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Gestalt

Adapting Ourselves, Instead of the Environment: An Inquiry into Human Enhancement for Function and Beyond
Döbler NA and Carbon CC
Technology enables humans not only to adapt their environment to their needs but also to modify themselves. Means of Human Enhancement - embodied technologies to improve the human body's capabilities or to create a new one - are the designated means of adapting ourselves instead of the environment. The debate about these technologies is typically fought on ethical soil. However, alarmist, utopian, and science fiction scenarios distract from the fact that Human Enhancement is a historical and pervasive phenomenon incorporated into many everyday practices. In the vein of disentangling conceptual difficulties, we claim that means of Human Enhancement are either physiologically or psychologically embodied, rendering the merging with the human user their most defining aspect. To fulfill its purpose, an enhancement must pass the test-in-the-world, i.e., assisting with effective engagement with a dynamic world. Even if failing in this regard: Human Enhancement is the fundamental and semi-targeted process of changing the users relationship with the world through the physical or psychological embodiment of a hitherto external object and/or change of one's body. This can potentially change the notion of being human. Drawing on a rich body of theoretical and empirical literature, we aim to provide a nuanced analysis of the transformative nature of this phenomenon in close proximity to human practice. Stakeholders are invited to apply the theory presented here to interrogate their perspective on technology in general and Human Enhancement in particular.
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant
Gnazzo M, Pascolini G, Parlapiano G, Petrizzelli F, Perrino D, Porco L, Bartuli A, Novelli A and Baban A
Usmani-Riazuddin syndrome (USRISR, MIM# 619548; USRISD, MIM#619467) is a very rare genetic condition. recently associated with deleterious variants in AP1G1 (MIM* 603533). It is characterized by multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, muscular tone disorders, seizures, limb defects, and unspecified facial gestalt. In this report, we describe this syndrome for the second time, in association to a novel AP1G1 variant identified in a toddler with multisystemic involvement including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation sequencing (NGS) analysis through clinical exome disclosed AP1G1: c.1969C>G (p.Leu657Val), de novo, likely pathogenic variant, according to ACMG classification criteria. Proband's facial features resembled the spectrum of chromatinopathies. Clinical pictures were analyzed and a clinical overlap was supported by DeepGestalt analysis (www.face2gene.com). The system identified 6 chromatin disorders out of 30 possible diagnoses. The remaining 24 included 9 miscellaneous cryptic chromosomal abnormalities (excluded due to normal microarray study). To the best of our knowledge, this is the first description of likely distinctive facial features in a patient with Usmani-Riazuddin syndrome. Further multicentric analyses are needed for a better definition of this aspect.
The correlation between sadomasochists' experience and their sadomasochistic behaviors and fantasies: A qualitative analysis of interviews
Liang W and Zhang Y
Lacking a comprehensive understanding of sadomasochism makes difficulties in judicial dispositions, clinical interventions, and mental health services. This study explores the correlation between sadomasochists' growth experience and their sadomasochistic behaviors and fantasies. We interviewed 51 sadomasochists from a Chinese subcultural website, coded and analyzed the interview records, conducted correlation and cluster analyses on the reference points of the nodes of impressive experience and sadomasochistic behaviors and fantasies, and constructed the model of Experience-Behaviors and Fantasies. We found that sadomasochists' typical impressive experiences are family parenting and sexual experience; sadomasochistic behaviors and fantasies can be classified into five categories: spirit, punishment, sex, canine, and excretion; and sadomasochistic behaviors and fantasies are partially correlated with sadomasochists' impressive experiences, indicating psychoanalytic theory is the leading theory for the driving processes of sadomasochism, while behaviorist and Gestalt theories also contribute.
The hidden fitness of the male zebra finch courtship song
Alam D, Zia F and Roberts TF
Vocal learning in songbirds is thought to have evolved through sexual selection, with female preference driving males to develop large and varied song repertoires. However, many songbird species learn only a single song in their lifetime. How sexual selection drives the evolution of single-song repertoires is not known. Here, by applying dimensionality-reduction techniques to the singing behaviour of zebra finches (Taeniopygia guttata), we show that syllable spread in low-dimensional feature space explains how single songs function as honest indicators of fitness. We find that this Gestalt measure of behaviour captures the spectrotemporal distinctiveness of song syllables in zebra finches; that females strongly prefer songs that occupy more latent space; and that matching path lengths in low-dimensional space is difficult for young males. Our findings clarify how simple vocal repertoires may have evolved in songbirds and indicate divergent strategies for how sexual selection can shape vocal learning.
The psychoanalytic setting: José Bleger's
Churcher J
José Bleger's paper on the setting () is integral to his 1967 book . Relevant concepts from the book are summarised before examining his view of the setting as a "non-process" consisting of "constants", complementing the "variables" of the analytic process. Process and setting are related as figure and ground in Gestalt psychology. The ideally maintained setting is studied as a thought experiment, uniting the categories of institution, personality, body schema, and body. Deposited in the setting, the psychotic part of the personality, or "agglutinated nucleus", is a remnant of early symbiosis with the mother. Bleger distinguishes two settings: the analyst's and the patient's. The latter can only be analysed by strictly maintaining the former. Ritualisation of the setting denies temporal reality. De-symbiotisation is not always possible. A concept of "internal" setting is suggested, but Bleger nowhere mentions this and the concept is problematic, leaving open the question of how to listen to the silence of the setting. Bleger's concept of can be applied to constants (invariants) in the wider world, the psychotic part of the personality being deposited in everything that is familiar and felt to be constant, including technology, which creates a "platform" for human activity.
Multidimensional signal detection modeling reveals Gestalt-like perceptual integration of face emotion and identity
Hosseini SS and Soto FA
Numerous studies have tested the hypothesis that facial identity and emotional expression are independently processed, but a solid conclusion has been difficult to reach, with the literature showing contradictory results. We argue that this is partly due to different researchers using different definitions of perceptual integration and independence, usually vague and/or simply operational, and also due to lack of proper stimulus control. Here, we performed a study using three-dimensional realistic computer-generated faces for which the discriminability of identities and expressions, the intensity of the expressions, and low-level features of the faces were controlled. A large number of participants, distributed across twelve experimental groups, performed identification tasks for the six basic emotional expressions and the neutral expression (between 2018 and 2019). A multidimensional signal detection model was utilized to analyze the data, which allowed us to dissociate between multiple formally defined notions of independence and holism. Results showed strong and robust violations of perceptual independence that were consistent across all experiments and suggest Gestalt-like perceptual integration of face identity and expression. To date, our results provide the strongest evidence for holistic/Gestalt processing found among face perception studies that have used formal definitions of independence and holism. (PsycInfo Database Record (c) 2024 APA, all rights reserved).
Investigating acoustic numerosity illusions in professional musicians
Pecunioso A, Spoto A and Agrillo C
Various studies have reported an association between musical expertise and enhanced visuospatial and mathematical abilities. A recent work tested the susceptibility of musicians and nonmusicians to the Solitaire numerosity illusion finding that also perceptual biases underlying numerical estimation are influenced by long-term music training. However, the potential link between musical expertise and different perceptual mechanisms of quantitative estimation may be either limited to the visual modality or universal (i.e., modality independent). We addressed this question by developing an acoustic version of the Solitaire illusion. Professional musicians and nonmusicians listened to audio file recordings of piano and trombone notes and were required to estimate the number of piano notes. The stimuli were arranged to form test trials, with piano and trombone notes arranged in a way to form the Solitaire pattern, and control trials, with randomly located notes to assess their quantitative abilities in the acoustic modality. In the control trials, musicians were more accurate in numerical estimation than nonmusicians. In the presence of illusory patterns, nonmusicians differed from musicians in the esteem of regularly arranged vs. randomly arranged notes. This suggests that the association between long-term musical training and different perceptual mechanisms underlying numerical estimation may not be confined to the visual modality. However, neither musicians nor nonmusicians seemed to be susceptible to the acoustic version of the Solitaire illusion, suggesting that the emergence of this illusion may be stimulus and task-dependent.
Silvia De Marchi (1929) on numerical estimation: A translation and commentary
Bertamini M and Bobbio A
Vittorio Benussi (1878-1927) is known for numerous studies on optical illusions, visual and haptic perception, spatial and time perception. In Padova, he had a brilliant student who carefully worked on the topic of how people estimate numerosity, Silvia De Marchi (1897-1936). Her writings have never been translated into English before. Here we comment on her work and life, characterized also by the challenges faced by women in academia. The studies on perception of numerosity from her thesis were published as an article in 1929. We provide a translation from Italian, a redrawing of its 23 illustrations and of the graphs. It shows an original experimental approach and an anticipation of what later became known as magnitude estimation.
Clinical practice, decision-making, and use of clinical decision support systems in invasive mechanical ventilation: a narrative review
Murali M, Ni M, Karbing DS, Rees SE, Komorowski M, Marshall D, Ramnarayan P and Patel BV
Invasive mechanical ventilation is a key supportive therapy for patients on intensive care. There is increasing emphasis on personalised ventilation strategies. Clinical decision support systems (CDSS) have been developed to support this. We conducted a narrative review to assess evidence that could inform device implementation. A search was conducted in MEDLINE (Ovid) and EMBASE. Twenty-nine studies met the inclusion criteria. Role allocation is well described, with interprofessional collaboration dependent on culture, nurse:patient ratio, the use of protocols, and perception of responsibility. There were no descriptions of process measures, quality metrics, or clinical workflow. Nurse-led weaning is well-described, with factors grouped by patient, nurse, and system. Physician-led weaning is heterogenous, guided by subjective and objective information, and 'gestalt'. No studies explored decision-making with CDSS. Several explored facilitators and barriers to implementation, grouped by clinician (facilitators: confidence using CDSS, retaining decision-making ownership; barriers: undermining clinician's role, ambiguity moving off protocol), intervention (facilitators: user-friendly interface, ease of workflow integration, minimal training requirement; barriers: increased documentation time), and organisation (facilitators: system-level mandate; barriers: poor communication, inconsistent training, lack of technical support). One study described factors that support CDSS implementation. There are gaps in our understanding of ventilation practice. A coordinated approach grounded in implementation science is required to support CDSS implementation. Future research should describe factors that guide clinical decision-making throughout mechanical ventilation, with and without CDSS, map clinical workflow, and devise implementation toolkits. Novel research design analogous to a learning organisation, that considers the commercial aspects of device design, is required.
Shape-Based Measures Improve Scene Categorization
Rezanejad M, Wilder J, Walther DB, Jepson AD, Dickinson S and Siddiqi K
Converging evidence indicates that deep neural network models that are trained on large datasets are biased toward color and texture information. Humans, on the other hand, can easily recognize objects and scenes from images as well as from bounding contours. Mid-level vision is characterized by the recombination and organization of simple primary features into more complex ones by a set of so-called Gestalt grouping rules. While described qualitatively in the human literature, a computational implementation of these perceptual grouping rules is so far missing. In this article, we contribute a novel set of algorithms for the detection of contour-based cues in complex scenes. We use the medial axis transform (MAT) to locally score contours according to these grouping rules. We demonstrate the benefit of these cues for scene categorization in two ways: (i) Both human observers and CNN models categorize scenes most accurately when perceptual grouping information is emphasized. (ii) Weighting the contours with these measures boosts performance of a CNN model significantly compared to the use of unweighted contours. Our work suggests that, even though these measures are computed directly from contours in the image, current CNN models do not appear to extract or utilize these grouping cues.
Improving Behavioral-Based Safety Training in Using Verbal Commands Through a Theory-Driven and Feedback-Based Nonimmersive Virtual Reality Game: Development and Usability Study
Atagbuzia C, Ng EH and Natarajan G
The construction, chemical, aviation, medical, and health care industries have used serious games for safety training. To our knowledge, serious games have not been developed focusing on behavioral change to improve safety through the use of verbal commands and instilling players with heightened awareness of their spatial proximity to other people in their surroundings.
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant
Schwartzmann S, Zhao M, Sczakiel HL, Hildebrand G, Ehmke N, Horn D, Mensah MA and Boschann F
Pathogenic variants in TRIO, encoding the guanine nucleotide exchange factor, are associated with two distinct neurodevelopmental delay phenotypes: gain-of-function missense mutations within the spectrin repeats are causative for a severe developmental delay with macrocephaly (MIM: 618825), whereas loss-of-function missense variants in the GEF1 domain and truncating variants throughout the gene lead to a milder developmental delay and microcephaly (MIM: 617061). In three affected family members with mild intellectual disability/NDD and microcephaly, we detected a novel heterozygous TRIO variant at the last coding base of exon 31 (NM_007118.4:c.4716G>A). RNA analysis from patient-derived lymphoblastoid cells confirmed aberrant splicing resulting in the skipping of exon 31 (r.4615_4716del), leading to an in-frame deletion in the first Pleckstrin homology subdomain of the GEF1 domain: p.(Thr1539_Lys1572del). To test for a distinct gestalt, facial characteristics of the family members and 41 previously published TRIO cases were systematically evaluated via GestaltMatcher. Computational analysis of the facial gestalt suggests a distinguishable facial TRIO-phenotype not outlined in the existing literature.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M and Tartaglia M
Autosomal dominant Kabuki syndrome (KS) is a rare multiple congenital anomalies/neurodevelopmental disorder caused by heterozygous inactivating variants or structural rearrangements of the lysine-specific methyltransferase 2D (KMT2D) gene. While it is often recognizable due to a distinctive gestalt, the disorder is clinically variable, and a phenotypic scoring system has been introduced to help clinicians to reach a clinical diagnosis. The phenotype, however, can be less pronounced in some patients, including those carrying postzygotic mutations. The full spectrum of pathogenic variation in KMT2D has not fully been characterized, which may hamper the clinical classification of a portion of these variants. DNA methylation (DNAm) profiling has successfully been used as a tool to classify variants in genes associated with several neurodevelopmental disorders, including KS. In this work, we applied a KS-specific DNAm signature in a cohort of 13 individuals with KMT2D VUS and clinical features suggestive or overlapping with KS. We succeeded in correctly classifying all the tested individuals, confirming diagnosis for three subjects and rejecting the pathogenic role of 10 VUS in the context of KS. In the latter group, exome sequencing allowed to identify the genetic cause underlying the disorder in three subjects. By testing five individuals with postzygotic pathogenic KMT2D variants, we also provide evidence that DNAm profiling has power to recognize pathogenic variants at different levels of mosaicism, identifying 15% as the minimum threshold for which DNAm profiling can be applied as an informative diagnostic tool in KS mosaics.
Early Physician Gestalt Versus Usual Screening Tools for the Prediction of Sepsis in Critically Ill Emergency Patients
Knack SKS, Scott N, Driver BE, Prekker ME, Black LP, Hopson C, Maruggi E, Kaus O, Tordsen W and Puskarich MA
Compare physician gestalt to existing screening tools for identifying sepsis in the initial minutes of presentation when time-sensitive treatments must be initiated.
The irreconcilability of insight
Shupe E
We are said to experience insight when we suddenly and unexpectedly become aware of the solution to a problem that we previously took ourselves to be unable to solve. In the field of comparative cognition, there is rising interest in the question of whether non-human animals are capable of insightful problem-solving. Putative cases of animals demonstrating insight have generally attracted two types of criticism: first, that insight is being conflated with other cognitive capacities (e.g., causal cognition, or mental trial and error); and, second, that the relevant performances merely reflect associative learning-and on the received understanding of insight within comparative cognition, insight necessarily involves non-associative processes. I argue that even if we grant that some cases of animal insight do withstand these two criticisms, these cases of purported animal insight cannot shed light on the nature of insightful problem-solving in humans. For the phenomenon studied by cognitive psychologists under the heading of insight is fundamentally different from that studied in comparative cognition. In light of this impasse, I argue that the reinterpretation of the extant research on animal insight in terms of other high-level cognitive capacities (means-end reasoning in particular) can improve the prospect of a successful comparative research program.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny AF, Casas-Alba D, Grinberg D, Balcells S, Serrano M, Rabionet R, Martin MA and Urreizti R
TRAF7-related cardiac, facial, and digital anomalies with developmental delay (CAFDADD), a multisystemic neurodevelopmental disorder caused by germline missense variants in the TRAF7 gene, exhibits heterogeneous clinical presentations.
Proteomic Analysis of the Senescence-Associated Secretory Phenotype: GDF-15, IGFBP-2, and Cystatin-C Are Associated With Multiple Aging Traits
Evans DS, Young D, Tanaka T, Basisty N, Bandinelli S, Ferrucci L, Campisi J and Schilling B
Cellular senescence, a hallmark of aging, results in a senescence-associated secretory phenotype (SASP) with an increased production of proinflammatory cytokines, growth factors, and proteases. Evidence from nonhuman models demonstrates that SASP contributes to tissue dysfunction and pathological effects of aging. However, there are relatively few human studies on the relationship between SASP and aging-related health outcomes. Proteins from the SASP Atlas were measured in plasma using aptamer-based proteomics (SomaLogic). Regression models were used to identify SASP protein associations with aging-related traits representing multiple aspects of physiology in 1 201 participants from 2 human cohort studies (BLSA/GESTALT and InCHIANTI). Traits examined were fasting glucose, C-reactive protein, interleukin-6, alkaline phosphatase, blood urea nitrogen, albumin, red blood cell distribution width, waist circumference, systolic and diastolic blood pressure, gait speed, and grip strength. Study results were combined with a fixed-effect inverse-variance weighted meta-analysis. In the meta-analysis, 28 of 77 SASP proteins were significantly associated with age. Of the 28 age-associated SASP proteins, 18 were significantly associated with 1 or more clinical traits, and 7 SASP proteins were significantly associated with 3 or more traits. Growth/differentiation factor 15, Insulin-like growth factor-binding protein 2, and Cystatin-C showed significant associations with inflammatory markers and measures of physical function (grip strength or gait speed). These results support the relevance of SASP proteins to human aging, identify specific traits that are potentially affected by SASP, and prioritize specific SASP proteins for their utility as biomarkers of human aging.
Spike synchrony as a measure of Gestalt structure
Zemliak V, Mayer J, Nieters P and Pipa G
The function of spike synchrony is debatable: some researchers view it as a mechanism for binding perceptual features, others - as a byproduct of brain activity. We argue for an alternative computational role: synchrony can estimate the prior probability of incoming stimuli. In V1, this can be achieved by comparing input with previously acquired visual experience, which is encoded in plastic horizontal intracortical connections. V1 connectivity structure can encode the acquired visual experience in the form of its aggregate statistics. Since the aggregate statistics of natural images tend to follow the Gestalt principles, we can assume that V1 is more often exposed to Gestalt-like stimuli, and this is manifested in its connectivity structure. At the same time, the connectivity structure has an impact on spike synchrony in V1. We used a spiking model with V1-like connectivity to demonstrate that spike synchrony reflects the Gestalt structure of the stimulus. We conducted simulation experiments with three Gestalt laws: proximity, similarity, and continuity, and found substantial differences in firing synchrony for stimuli with varying degrees of Gestalt-likeness. This allows us to conclude that spike synchrony indeed reflects the Gestalt structure of the stimulus, which can be interpreted as a mechanism for prior probability estimation.
Social perception of robots is shaped by beliefs about their minds
Momen A, Hugenberg K and Wiese E
Roboticists often imbue robots with human-like physical features to increase the likelihood that they are afforded benefits known to be associated with anthropomorphism. Similarly, deepfakes often employ computer-generated human faces to attempt to create convincing simulacra of actual humans. In the present work, we investigate whether perceivers' higher-order beliefs about faces (i.e., whether they represent actual people or android robots) modulate the extent to which perceivers deploy face-typical processing for social stimuli. Past work has shown that perceivers' recognition performance is more impacted by the inversion of faces than objects, thus highlighting that faces are processed holistically (i.e., as Gestalt), whereas objects engage feature-based processing. Here, we use an inversion task to examine whether face-typical processing is attenuated when actual human faces are labeled as non-human (i.e., android robot). This allows us to employ a task shown to be differentially sensitive to social (i.e., faces) and non-social (i.e., objects) stimuli while also randomly assigning face stimuli to seem real or fake. The results show smaller inversion effects when face stimuli were believed to represent android robots compared to when they were believed to represent humans. This suggests that robots strongly resembling humans may still fail to be perceived as "social" due pre-existing beliefs about their mechanistic nature. Theoretical and practical implications of this research are discussed.
Serial processing of proximity groups and similarity groups
Johansson RCG and Ulrich R
Proximity and feature similarity are two important determinants of perceptual grouping in vision. When viewing visual scenes conveying both grouping options simultaneously, people most usually detect proximity groups faster than similarity groups. This article demonstrates that perceptual judgments of grouping orientation guided by either proximity or contrast similarity are indicative of a sequential organization of grouping operations in the visual pathway, which lends a temporal processing advantage to proximity grouping (Experiment 1). Invoking the double-factorial paradigm, latent cognitive architecture for perceptual grouping is also investigated in a task with redundant signals (Experiment 2). Reaction time data from this task is assessed in terms of the race model inequality, workload capacity analysis, and interaction contrasts of means and survivor functions. Again, empirical benchmarks indicate serial processing of proximity groups and similarity groups, with a self-terminating stopping rule for processing. A subset of participants exhibit atypical performance metrics, hinting at possible individual differences in configural visual processing.
Self-image Building protocol for treating depression in hypnosis
Lankton S
This article explains the method of treating depression with an intervention called Self-Image Building. Several antecedents or correlates of depression are briefly discussed as they form a gestalt backdrop for the many therapeutic approaches that have been researched and promoted as treatment or solutions to depression. The rationale and construction of the intervention is illustrated with a brief case example. Self-Image Building is discussed in the context of other theories of self-image, over-generalization, negativity bias, and as an internal discriminative stimulus for performance. Self-Image Building is used to construct an actual referent and not a cognitive abstraction about how people make conclusions about themselves.
[The precarious balance of Gestalt change due to Franco Basaglia.]
Spinsanti S
Franco Basaglia's passionate battle to change the state of psychiatric care in Italy resembles the experiences we know as "Gestalt change". The health and well-being of the community, both family and social, constituted the dominant figure in the scenario of psychiatric disorders; the person of the sick person - and thus his rights, his dignity… - slipped into the background. The very health of the mentally ill person was seen as a function of social security. Health, that is, the very life of the person with psychiatric problems, became the object of our social gaze. Gestalt changes occur by slow and arduous cultural transformation. Just think of the not yet completed process of change in the relationship of male and female gender roles. However: Gestalt changes are not stable; the risk is that suddenly the figure we thought we had acquired forever becomes diluted, becoming background again. This uneasy balance suggests to exercise continuous vigilance.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, , Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH and Shinawi M
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease. Here, we present clinical and molecular characterization of 18 individuals with germline ZFX variants. Exome or genome sequencing revealed 11 variants in 18 subjects (14 males and 4 females) from 16 unrelated families. Four missense variants were identified in 11 subjects, with seven truncation variants in the remaining individuals. Clinical findings included developmental delay/intellectual disability, behavioral abnormalities, hypotonia, and congenital anomalies. Overlapping and recurrent facial features were identified in all subjects, including thickening and medial broadening of eyebrows, variations in the shape of the face, external eye abnormalities, smooth and/or long philtrum, and ear abnormalities. Hyperparathyroidism was found in four families with missense variants, and enrichment of different tumor types was observed. In molecular studies, DNA-binding domain variants elicited differential expression of a small set of target genes relative to wild-type ZFX in cultured cells, suggesting a gain or loss of transcriptional activity. Additionally, a zebrafish model of ZFX loss displayed an altered behavioral phenotype, providing additional evidence for the functional significance of ZFX. Our clinical and experimental data support that variants in ZFX are associated with an X-linked intellectual disability syndrome characterized by a recurrent facial gestalt, neurocognitive and behavioral abnormalities, and an increased risk for congenital anomalies and hyperparathyroidism.
Global trends and decision-making in the management of arachnoid cysts
Kakodkar P, Ragulojan M, Hayawi L, Tsampalieros A, Chee SS, Wu M, Makoshi Z, Singhal A, Steinbok P, Fallah A, Robison RA and Tu A
In pediatric patients, middle cranial fossa (MCF) arachnoid cysts are often discovered incidentally on imaging in asymptomatic patients during workup for other indications. This study aims to describe current management gestalt and threshold for surgical intervention by surveying an international cohort of neurosurgeons.
Exploiting the Features of Clinical Judgment to Improve Assessment of Disease Severity in the Emergency Department: An Acutelines Study
Visser M, Rossi D, Bouma HR and Ter Maaten JC
Clinical judgment, also known as gestalt or gut feeling, can predict deterioration and can be easily and rapidly obtained. To date, it is unknown what clinical judgement precisely entails. The aim of this study was to elucidate which features define the clinical impression of health care professionals in the ED.
Non-invasive Intracranial Pressure Waveform Analysis in Chiari Malformation Type 1: A Pilot Trial
Rusafa Neto E, Paiva WS, Brock RS, Hayashi CY, Nagumo MM, Segurado MO, Zaninotto AL and Amorim RL
This pilot study aimed to investigate the role of Posterior Fossa Decompression (PFD) on the intracranial pressure (ICP) waveform in patients with Chiari Malformation type 1 (CM1). It also sought to explore the relationship between symptom improvement and ICP waveform behavior.
External validation of the bedside score for the diagnosis of acute cholecystitis
Mahmoudzadeh F, Akhgar A and Mirfazaelian H
Objective: Acute cholecystitis usually presents with right upper quadrant (RUQ) abdominal pain. However, there are other conditions with similar findings which make the diagnosis difficult. The objective of this study is to prospectively validate the performance of the bedside score for the diagnosis of cholecystitis in patients presenting to the emergency department (ED) with possible acute cholecystitis.
Visuospatial memory in apraxia: Exploring quantitative drawing metrics to assess the representation of local and global information
Salo SK, Harries CA, Riddoch MJ and Smith AD
Neuropsychological evidence suggests that visuospatial memory is subserved by two separable processing systems, with dorsal underpinnings for global form and ventral underpinnings for the integration of part elements. Previous drawing studies have explored the effects of Gestalt organisation upon memory for hierarchical stimuli, and we here present an exploratory study of an apraxic dorsal stream patient's (MH) performance. We presented MH with a stimulus set (previously reported by Riddoch et al., Cognitive Neuropsychology, 20(7), 641-671, 2003) and devised a novel quantitative scoring system to obtain a finer grain of insight into performance. Stimuli possessed either good or poor Gestalt qualities and were reproduced in a copy condition and two visual memory conditions (with unlimited viewing before the model was removed, or with 3 s viewing). MH's copying performance was impaired in comparison to younger adult and age-matched older adult controls, with a variety of errors at the local level but relatively few at the global level. However, his performance in the visual memory conditions revealed impairments at the global level. For all participants, drawing errors were modulated by the Gestalt qualities of the stimuli, with accuracy at the global and local levels being lesser for poor global stimuli in all conditions. These data extend previous observations of this patient, and support theories that posit interaction between dorsal and ventral streams in the representation of hierarchical stimuli. We discuss the implications of these findings for our understanding of visuospatial memory in neurological patients, and also evaluate the application of quantitative metrics to the interpretation of drawings.
Outcomes of Patients Enrolled in a Prospective and Randomized Trial on Basis of Gestalt Assessment or ABC Score
Baird EW, Lammers DT, Abraham P, Hashmi ZG, Griffin RL, Stephens SW, Jansen JO and Holcomb JB
The Pragmatic Randomized Optimal Platelet and Plasma Ratios (PROPPR) trial rapidly enrolled patients based on an ABC ≥ 2 score, or Physician Gestalt (PG) when ABC score was <2. The objective of this study was to describe what patients were enrolled by the two methods and whether patient outcomes differed based these enrollments. We hypothesized that there would be no differences in outcomes based on whether patients were enrolled via ABC score or PG.
The Gestalt of functioning in autism revisited: First revision of the International Classification of Functioning, Disability and Health Core Sets
Bölte S, Alehagen L, Black MH, Hasslinger J, Wessman E, Lundin Remnélius K, Marschik PB, D'Arcy E, Crowson S, Freeth M, Seidel A, Girdler S and Zander E
Autistic people experience individual strengths and challenges as well as barriers and facilitators in their environment. All of these factors contribute to how well autistic people can cope in everyday life, fulfill the roles they choose, and meet their needs. The World Health Organization has developed a system aiming to capture the many factors within people (like how someone thinks and feels) and outside of people (things around a person) that influence their daily living, called the International Classification of Functioning, Disability and Health. The International Classification of Functioning, Disability and Health can be used for different purposes in research and practice to assess people's situations and plan support measures. Previously in 2019, the International Classification of Functioning, Disability and Health was adapted to autism by developing so-called Core Sets, which are shorter International Classification of Functioning, Disability and Health versions for use in specific conditions. Here, we present the first revisions of the International Classification of Functioning, Disability and Health Core Sets for autism, based on research, development results, and community feedback. Some factors influencing daily life for autistic people were added to the Core Sets, and other factors deemed less relevant were removed. Changes were also made in Core Sets designed for different age groups (0-5, 6-16, and ⩾17 years). Particularly, contents for sensory processing (like smell, touch, seeing, hearing) were added. We recommend these updated Core Sets for future use in autism research and practice. These changes to the Core Sets after 4 years indicate that there should be ongoing updates based on research and experience from practice and involvement of stakeholders.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR and El-Hattab AW
PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21-related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features.
How to Monitor Disease Activity of Axial Spondyloarthritis in Clinical Practice
Kumthekar A, Sanghavi N, Natu A and Danve A
Treatment guided by periodic and quantitative data assessment results in better outcomes compared to using clinical gestalt. While validated generic as well as specific disease activity measures for axial spondyloarthritis (axSpA) are available, there is vast scope to improve their actual utilization in routine clinical practice. In this review, we discuss available disease activity measures for axSpA, describe results from the survey conducted among general rheumatologists as well as Spondyloarthritis Research and Treatment Network (SPARTAN) members about disease activity measurement in daily practice, and discuss ways to improve axSpA disease activity using technological advances. We also discuss the definitions of active disease and target for the treatment of axSpA.
Science of forests and floods: The quantum leap forward needed, literally and metaphorically
Pham HC and Alila Y
A century of research has generated considerable disagreement on the effect of forests on floods. Here we call for a causal inference framework to advance the science and management of the effect of any forest or its removal on flood severity and frequency. The causes of floods are multiple and chancy and, hence, can only be investigated via a probabilistic approach. We use the stochastic hydrology literature to infer a blueprint framework which could guide future research on the understanding and prediction of the effects of forests on floods in environments where rain is the dominant form of precipitation. Drawing parallels from other disciplines, we show that the introduction of probability in forest hydrology could stimulate a gestalt switch in the science of forests and floods. In light of increasing flood risk caused by climate change, this probabilistic framework can help policymakers develop robust forest and water management plans based on a defensible and clear understanding of floods.
Diagnosis of Acute Aortic Syndrome in the Emergency Department (DAShED) study: an observational cohort study of people attending the emergency department with symptoms consistent with acute aortic syndrome
McLatchie R, Reed MJ, Freeman N, Parker RA, Wilson S, Goodacre S, Cowan A, Boyle J, Clarke B, Clarke E and
The diagnosis of acute aortic syndrome (AAS) is commonly delayed or missed in the ED. We describe characteristics of ED attendances with symptoms potentially associated with AAS, diagnostic performance of clinical decision tools (CDTs) and physicians and yield of CT aorta angiogram (CTA).
Comparing explicit and implicit ensemble perception: 3 stimulus variables and 3 presentation modes
Khayat N, Pavlovskaya M and Hochstein S
Visual scenes are too complex for one to immediately perceive all their details. As suggested by Gestalt psychologists, grouping similar scene elements and perceiving their summary statistics provides one shortcut for evaluating scene gist. Perceiving ensemble statistics overcomes processing, attention, and memory limits, facilitating higher-order scene understanding. Ensemble perception spans simple/complex dimensions (circle size, face emotion), including various statistics (mean, range), and inherently spans space and/or time, when sets are presented scattered across the visual scene, and/or sequentially in rapid series. Furthermore, ensemble perception occurs explicitly, when observers are asked to judge set mean, and also automatically/implicitly, when observers are engaged in an orthogonal task. We now study relationships among these ensemble-perception phenomena, testing explicit and implicit ensemble perception; for sets varying in circle size, line orientation, or disc brightness; and with spatial, temporal or spatio-temporal presentation. Following ensemble set presentation, observers were asked if a test image, or which of two test images, had been present in the set. Confirming previous results, responses reflected implicit mean perception, depending on test image distance from the mean, and on its being within or outside ensemble range. Subsequent experiments asked the same observers to explicitly judge whether test images were larger, more clockwise, or brighter than the set mean, or which of two test images was closer to the mean. Comparing implicit and explicit mean perception, we find that explicit ensemble averaging is more precise than implicit mean perception-for each ensemble variable and presentation mode. Implications are discussed regarding possible separate mechanisms for explicit versus implicit ensemble perception.
The contribution of difficulty of an irrelevant task to task conflict
Hershman R, Sapir A, Keha E, Wagner M, Weiss EM and Henik A
In the standard colour-word Stroop task, participants are presented with colour words and required to respond to their colour while ignoring their meaning. Two types of conflict might occur in such experiments: information conflict and task conflict. Information conflict reflects the processing of two contradicting pieces of information and is indicated by shorter reaction times (RTs) in congruent than in incongruent trials. Task conflict reflects the additional effort associated with performing two tasks, as opposed to one, and is indicated by shorter RTs in neutral trials than in congruent trials (termed reverse facilitation). While information conflict is commonly seen in Stroop and Stroop-like tasks, task conflict is rarely observed. In the present study, participants were presented with coloured segments that, by applying Gestalt principles, could be perceived as colour words. We found that incongruent trials were slower than congruent trials, suggesting that participants successfully perceived the colour words, which led to involuntary reading. In addition, reversed facilitation was found so that neutral trials (i.e., trials that only consist of one task) were faster than congruent trials (as well as incongruent trials; both consist of two tasks). The presence of both interference from the incongruent trials and reverse facilitation suggests that involuntary reading could also occur in scenarios requiring cognitive effort.
Enhancing Perceptual-Motor Skills in Sports: The Role of Ecological Sounds
Agostini T, Sors F, Murgia M and Galmonte A
Starting approximately from the beginning of the new millennium, a series of studies highlighted that auditory information deriving from biological motion can significantly influence the behavioral, cognitive and neurophysiological processes involved in the perception and execution of complex movements. In particular, it was observed that an appropriate use of sounds deriving from one's own movement promotes improvements in the movement execution itself. Two main approaches can be used, namely the sonification one or the ecological sound one; the former is based on the conversion of physiological and/or physical movement data into sound, while the latter is based on the use of auditory recordings of movement sounds as models. In the present article, some of the main applications of both approaches-especially the latter-to the domains of sport and motor rehabilitation are reviewed, with the aim of addressing two questions: Is it possible to consider rhythm as a Gestalt of human movement? If so, is it possible to build up cognitive strategies to improve/standardize movement performance from this Gestalt? As with most topics in science, a definitive answer is not possible, yet the evidence leads us to lean toward a positive answer to both questions.
Visual Perception Principles in Constellation Creation
Kelly BA, Kemp C, Little DR, Hamacher D and Cropper SJ
Many cultures share common constellations and common narratives about the stars in the night sky. Previous research has shown that this overlap in asterisms, minimal star groupings inside constellations, is clearly present across 27 distinct culture groups and can be explained in part by properties of individual stars (brightness) and properties of pairs of stars (proximity) (Kemp, Hamacher, Little, & Cropper, 2022). The same work, however, found no evidence that properties of triples (angle) and quadruples (good continuation) predicted constellation formation. We developed a behavioral experiment to explore how individuals form constellations under conditions that reduce cultural learning. We found that participants independently selected and connected similar stars, and that their responses were predicted by two properties of triples (angle and even spacing) in addition to the properties of brightness and proximity supported by previous work. Our findings lend further evidence to the theory that commonality of constellations across cultures is not a result of shared human history but rather stems from shared human nature.
Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome
Patrício Rodrigues I, Teixeira B, Capela AM, Almeida M and Falcão Reis C
Turnpenny-Fry Syndrome (TPFS) is a rare genetic disorder characterized by a severe developmental delay and a distinctive facial gestalt. It is caused by mutations in the Polycomb Group Ring Finger Protein 2 (PCGF2) gene, which is also known to play a role in numerous tumor types. Up to date, there have been no published case reports of patients with TPFS and concomitant malignancies. The present case describes the clinical evaluation and follow-up of a male infant with severe global developmental delay (GDD) and a distinctive phenotype. At 4 years of age, clinical exome sequencing confirmed the diagnosis of TPFS. Posteriorly, at 5 years of age, the patient was also diagnosed with T-cell acute lymphoblastic leukemia (ALL). Given the scarce literature regarding this syndrome, the authors expect that this case report will provide valuable information that could improve the follow-up of patients with TPFS. Furthermore, this case highlights the necessity for the appropriate diagnosis of developmental disorders, to ensure adequate care, surveillance of comorbidities and proper genetic counselling.
Broadening the capture of natural products mentioned in FAERS using fuzzy string-matching and a Siamese neural network
Dilán-Pantojas IO, Boonchalermvichien T, Taneja SB, Li X, Chapin MR, Karcher S and Boyce RD
Increased sales of natural products (NPs) in the US and growing safety concerns highlight the need for NP pharmacovigilance. A challenge for NP pharmacovigilance is ambiguity when referring to NPs in spontaneous reporting systems. We used a combination of fuzzy string-matching and a neural network to reduce this ambiguity. Our aim is to increase the capture of reports involving NPs in the US Food and Drug Administration Adverse Event Reporting System (FAERS). For this, we utilized Gestalt pattern-matching (GPM) and Siamese neural network (SM) to identify potential mentions of NPs of interest in 389,386 FAERS reports with unmapped drug names. A team of health professionals refined the candidates identified in the previous step through manual review and annotation. After candidate adjudication, GPM identified 595 unique NP names and SM 504. There was little overlap between candidates identified by each (Non-overlapping: GPM 347, SM 248). We identified a total of 686 novel NP names from FAERS reports. Including these names in the FAERS collection yielded 3,486 additional reports mentioning NPs.
Survey on Nutrition in Neurological Intensive Care Units (SONNIC)-A Cross-Sectional Survey among German-Speaking Neurointensivists on Medical Nutritional Therapy
Gehri L, Schmidbauer ML, Putz T, Ratkovic L, Maskos A, Zeisberger C, Zibold J, Dimitriadis K and On Behalf Of The Ignite Study Group
Medical nutritional therapy (MNT) in neurointensive care units (NICUs) is both particularly relevant and challenging due to prolonged analgosedation, immobilization, disorders of consciousness, and the high prevalence of dysphagia. Moreover, current guideline recommendations predominantly address the general intensive care unit (ICU) population, overlooking specific characteristics of neurological patients. We, therefore, conducted a web-based, cross-sectional survey for German-speaking neurointensivists mapping the clinical practices of MNT on NICUs to identify research gaps and common grounds for future clinical trials. A total of 25.9% (56/216) NICU representatives responded to our questionnaire. A total of 78.2% (43/55) were neurologist and 63% (34/54) held a leadership role. Overall, 80.4% (41/51) had established a standard operating procedure (SOP), largely based on the DGEM-Guideline (53.7%; 22/41), followed by the ESPEN-Guideline (14.6%; 6/41). Upon admission, 36% (18/50) conducted a risk stratification, with 83.3% primarily relying on past medical history (15/18) and clinical gestalt (15/18). Energy expenditure (EE) was measured or calculated by 75% (36/48), with 72.2% (26/36) using pragmatic weight-based equations. Indirect calorimetry was used by 19.4% (7/36). A total of 83.3% (30/36) used the patient's serum glucose level as the primary biomarker to monitor metabolic tolerance. SOPs regarding ICU-Acquired Weakness (ICUAW) were found in 8.9% (4/45) of respondents. Overall, guideline adherence was 47%. In summary, this is, to the best of our knowledge, the first study systematically describing the currently applied concepts of MNT on NICUs. The data reveal great variations in the implementation of guideline recommendations, indicating the need for further research and tailored approaches to optimize nutritional therapy in neurointensive care settings.
Conversational facial signals combine into compositional meanings that change the interpretation of speaker intentions
Trujillo JP and Holler J
Human language is extremely versatile, combining a limited set of signals in an unlimited number of ways. However, it is unknown whether conversational visual signals feed into the composite utterances with which speakers communicate their intentions. We assessed whether different combinations of visual signals lead to different intent interpretations of the same spoken utterance. Participants viewed a virtual avatar uttering spoken questions while producing single visual signals (i.e., head turn, head tilt, eyebrow raise) or combinations of these signals. After each video, participants classified the communicative intention behind the question. We found that composite utterances combining several visual signals conveyed different meaning compared to utterances accompanied by the single visual signals. However, responses to combinations of signals were more similar to the responses to related, rather than unrelated, individual signals, indicating a consistent influence of the individual visual signals on the whole. This study therefore provides first evidence for compositional, non-additive (i.e., Gestalt-like) perception of multimodal language.
Short-time AOIs-based representative scanpath identification and scanpath aggregation
Huang H, Doebler P and Mertins B
A new algorithm to identify a representative scanpath in a sample is presented and evaluated with eye-tracking data. According to Gestalt theory, each fixation of the scanpath should be on an area of interest (AOI) of the stimuli. As with existing methods, we first identify the AOIs and then extract the fixations of the representative scanpath from the AOIs. In contrast to existing methods, we propose a new concept of short-time AOI and extract the fixations of representative scanpath from the short-time AOIs. Our method outperforms the existing methods on two publicly available datasets. Our method can be applied to arbitrary visual stimuli, including static stimuli without natural segmentation, as well as dynamic stimuli. Our method also provides a solution for issues caused by the selection of scanpath similarity.
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, Alburaiky S, Hayes I, Oppermann H, Print C, Cooper ST and Le Quesne Stabej P
ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism. Proband-parent trio exome sequencing identified compound heterozygous ATP2B1 variants: a maternally inherited splice-site (c.3060+2 T > G) and paternally inherited missense c.2938 G > T; p.(Val980Leu). Reverse-transcription-PCR on the proband's fibroblast-derived mRNA showed aberrantly spliced ATP2B1 transcripts targeted for nonsense-mediated decay. All correctly-spliced ATP2B1 mRNA encoding p.(Val980Leu) functionally causes decreased cellular Ca extrusion. Immunoblotting showed reduced fibroblast ATP2B1. We conclude that biallelic ATP2B1 variants are the likely cause of the proband's phenotype, strengthening the association of ATP2B1 as a neurodevelopmental gene and expanding the phenotypic characterization of a biallelic loss-of-function genotype.
General movements assessment: A bibliometric analysis
Zhussupova Z, Ayaganov D, Tekebayeva L, Jaxybayeva A, Mamedbayli A, Tamadon A and Zharmakhanova G
This bibliometric analysis provides an in-depth exploration of the scholarly landscape in the field of Prechtl General Movement Assessment (GMA) research, spanning the period from 1961 to 2023. It offers valuable insights into the evolutionary trajectory and global impact of GMA. The study employs a longitudinal approach, meticulously tracking trends in scholarly output, international collaborations, and authorship patterns. Notably, our findings reveal a significant increase in GMA-related publications, highlighting the growing prominence of this field. The dominance of Australia and Austria in scholarly contributions underscores their pivotal roles. International collaborations are prominent, with active participation from European nations and the Americas. However, it is essential to acknowledge certain limitations, including potential data source biases and a reliance on English-language publications. This analysis serves as a valuable resource for stakeholders in the field, emphasizing the need for ongoing evaluation and collaborative efforts to enhance GMA applications and further our understanding of its clinical implications.
Predicting instabilities: an embodied perspective on unstable experiences with art and design
Muth C and Carbon CC
Predictive Processing (PP) provides a theoretical framework that describes perception as a process attempting to increase the predictability of stimulations by updating predictions or exploring new sensations. Moreover, perception and action are assumed to be closely linked within this process. While organisms seem to strive for predictability, we sometimes expose ourselves to objects and situations that challenge sense-making-such conditions often break perceptual habits or offer multiple possible meanings. This paper updates a previous qualification of these experiences of 'Semantic Instability' () by following an embodied and situated understanding of perception and cognition. We suggest that art perception essentially differs from problem-solving as in engaging with art, we typically integrate contradictory elements dynamically and without the ultimate goal of resolving the contradictions-on the contrary, itself can generate aesthetic hedonics and interest. We discuss how current embodied accounts of PP might help understand what motivates such unstable yet insightful and pleasurable nonlinear sense-making processes. This article is part of the theme issue 'Art, aesthetics and predictive processing: theoretical and empirical perspectives'.
The Impact of Generative Conversational Artificial Intelligence on the Lesbian, Gay, Bisexual, Transgender, and Queer Community: Scoping Review
Bragazzi NL, Crapanzano A, Converti M, Zerbetto R and Khamisy-Farah R
Despite recent significant strides toward acceptance, inclusion, and equality, members of the lesbian, gay, bisexual, transgender, and queer (LGBTQ) community still face alarming mental health disparities, being almost 3 times more likely to experience depression, anxiety, and suicidal thoughts than their heterosexual counterparts. These unique psychological challenges are due to discrimination, stigmatization, and identity-related struggles and can potentially benefit from generative conversational artificial intelligence (AI). As the latest advancement in AI, conversational agents and chatbots can imitate human conversation and support mental health, fostering diversity and inclusivity, combating stigma, and countering discrimination. In contrast, if not properly designed, they can perpetuate exclusion and inequities.
Comparing Diagnostic Performance of Short and Long [F]FDG-PET Acquisition Times in Giant Cell Arteritis
Nienhuis PH, van Nieuwland M, van Praagh GD, Markusiewicz K, Colin EM, van der Geest KSM, Wagenaar N, Brouwer E, Alves C and Slart RHJA
(1) Background: In giant cell arteritis (GCA), the assessment of cranial arteries using [F]fluorodeoxyglucose ([F]FDG) positron emission tomography (PET) combined with low-dose computed tomography (CT) may be challenging due to low image quality. This study aimed to investigate the effect of prolonged acquisition time on the diagnostic performance of [F]FDG PET/CT in GCA. (2) Methods: Patients with suspected GCA underwent [F]FDG-PET imaging with a short acquisition time (SAT) and long acquisition time (LAT). Two nuclear medicine physicians (NMPs) reported the presence or absence of GCA according to the overall image impression (gestalt) and total vascular score (TVS) of the cranial arteries. Inter-observer agreement and intra-observer agreement were assessed. (3) Results: In total, 38 patients were included, of whom 20 were diagnosed with GCA and 18 were without it. Sensitivity and specificity for GCA on SAT scans were 80% and 72%, respectively, for the first NMP, and 55% and 89% for the second NMP. On the LAT scans, these values were 65% and 83%, and 75% and 83%, respectively. When using the TVS, LAT scans showed especially increased specificity (94% for both NMPs). Observer agreement was higher on the LAT scans compared with that on the SAT scan. (4) Conclusions: LAT combined with the use of the TVS may decrease the number of false-positive assessments of [F]FDG PET/CT. Additionally, LAT and TVS may increase both inter and intra-observer agreement.
Edge-Driven Multi-Agent Reinforcement Learning: A Novel Approach to Ultrasound Breast Tumor Segmentation
Karunanayake N, Moodleah S and Makhanov SS
A segmentation model of the ultrasound (US) images of breast tumors based on virtual agents trained using reinforcement learning (RL) is proposed. The agents, living in the edge map, are able to avoid false boundaries, connect broken parts, and finally, accurately delineate the contour of the tumor. The agents move similarly to robots navigating in the unknown environment with the goal of maximizing the rewards. The individual agent does not know the goal of the entire population. However, since the robots communicate, the model is able to understand the global information and fit the irregular boundaries of complicated objects. Combining the RL with a neural network makes it possible to automatically learn and select the local features. In particular, the agents handle the edge leaks and artifacts typical for the US images. The proposed model outperforms 13 state-of-the-art algorithms, including selected deep learning models and their modifications.
Gestalt's Perspective on Insight: A Recap Based on Recent Behavioral and Neuroscientific Evidence
Vitello M and Salvi C
The Gestalt psychologists' theory of insight problem-solving was based on a direct parallelism between perceptual experience and higher-order forms of cognition (e.g., problem-solving). Similarly, albeit not exclusively, to the sudden recognition of bistable figures, these psychologists contended that problem-solving involves a restructuring of one's initial representation of the problem's elements, leading to a sudden leap of understanding phenomenologically indexed by the "Aha!" feeling. Over the last century, different scholars have discussed the validity of the Gestalt psychologists' perspective, foremost using the behavioral measures available at the time. However, in the last two decades, scientists have gained a deeper understanding of insight problem-solving due to the advancements in cognitive neuroscience. This review aims to provide a retrospective reading of Gestalt theory based on the knowledge accrued by adopting novel paradigms of research and investigating their neurophysiological correlates. Among several key points that the Gestalt psychologists underscored, we focus specifically on the role of the visual system in marking a discrete switch of knowledge into awareness, as well as the perceptual experience and holistic standpoints. While the main goal of this paper is to read the previous theory in light of new evidence, we also hope to initiate an academic discussion and encourage further research about the points we raise.
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S and Weis D
X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and respiratory failure. However, in a minority of XLMTM cases, patients present with milder phenotypes and achieve ambulation and adulthood. Notable facial dysmorphia is also present.
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in Detected through Very-High-Resolution Chromosomal Microarray Analysis
Abarca-Barriga HH, Punil Luciano R and Vásquez Sotomayor F
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported. A chromosomal microarray analysis of 6.5 million markers was performed in the proband and her parents. The results showed a de novo heterozygous microdeletion of exons 9-14 within , which confirmed the diagnosis of Cornelia de Lange syndrome type 4. Our patient did not show any neurologic phenotype (until the time of diagnosis), although neurodevelopmental disorders are frequently present in patients with Cornelia de Lange syndrome type 4, and despite carrying a deletion that was larger than previously reported. Therefore, unknown genetic modifiers or intrinsic mechanisms of variants may exist and should be studied.
Low Risk Meets High Stakes: Unraveling the Mystery of Low D-dimer Pulmonary Embolism
Kasanga S, Khashan A, Salik A, Aboshehata AM, Casillas S and Islam M
Pulmonary embolisms (PEs) are potentially life-threatening emergencies that carry significant morbidity and mortality. Advances in treatment options and the safety of existing procedures have effectively reduced the long-term and short-term effects of the condition. Therefore, it is important to make an early diagnosis so that treatment options can be thoroughly explored. The D-dimer is an important tool in the early diagnosis of PEs. It is especially useful in ruling out the diagnosis in patients with a low to moderate suspicion of the disease. We present a case of a 22-year-old male who presented with exertional dyspnea, congestion, and rhinorrhea for one day and was noted to have persistent hypoxia and tachycardia. The influenza test was positive, and he was started on oseltamivir. Due to persistent hypoxia, a CT pulmonary angiogram was ordered and revealed filling defects in the left lower lobe segmental vessels suggestive of PE, as well as multifocal multilobar bilateral ground-glass opacities. He was initially treated with a heparin drip and subsequently switched to eliquis. After a significant improvement in his hypoxia, he was discharged home for outpatient follow-up, including a hypercoagulable workup. This case demonstrates that despite the usefulness of the D-dimer as a diagnostic tool for PEs, it cannot solely or fully replace the full gamut of screening tools used to determine the risk of PE. Although rare, false-negative scores do occur; therefore, the tool should always be used in conjunction with other scoring systems, physician gestalt, and within the specific clinical context.
SETting up the genome: KMT2D and KDM6A genomic function in the Kabuki syndrome craniofacial developmental disorder
Shpargel KB and Quickstad G
Kabuki syndrome is a congenital developmental disorder that is characterized by distinctive facial gestalt and skeletal abnormalities. Although rare, the disorder shares clinical features with several related craniofacial syndromes that manifest from mutations in chromatin-modifying enzymes. Collectively, these clinical studies underscore the crucial, concerted functions of chromatin factors in shaping developmental genome structure and driving cellular transcriptional states. Kabuki syndrome predominantly results from mutations in KMT2D, a histone H3 lysine 4 methylase, or KDM6A, a histone H3 lysine 27 demethylase.
Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation
Kalshetty A and Chalikandy A
Multiple endocrine neoplasia, type 1 (MEN1) syndrome is an autosomal dominant disease characterized by tumors involving parathyroid, pituitary, and pancreas. The diagnosis is mostly clinical and by the presence of MEN1 gene mutation. We present a case with initial presentation of neuroendocrine tumor of pancreas whose ancillary findings on Ga-DOTATATE positron emission tomography-computed tomography helped in raising suspicion of MEN1, which was confirmed on genetic testing and family history. We emphasize the importance of using gestalt approach in such cases to avoid misdiagnosis or delay. Additionally, we describe the clinical profile of affected family members with their MEN1 gene mutation status, highlighting the gestalt approach again to uncover the unknowns.
A Gestalt account of human behavior is supported by evidence from switching between single and dual actions
Huestegge L, Pieczykolan A and Koch I
The question of how behavior is represented in the mind lies at the core of psychology as the science of mind and behavior. While a long-standing research tradition has established two opposing fundamental views of perceptual representation, Structuralism and Gestalt psychology, we test both accounts with respect to action representation: Are multiple actions (characterizing human behavior in general) represented as the sum of their component actions (Structuralist view) or holistically (Gestalt view)? Using a single-/dual-response switch paradigm, we analyzed switches between dual ([A + B]) and single ([A], [B]) responses across different effector systems and revealed comparable performance in partial repetitions and full switches of behavioral requirements (e.g., in [A + B] → [A] vs. [B] → [A], or [A] → [A + B] vs. [B] → [A + B]), but only when the presence of dimensional overlap between responses allows for Gestalt formation. This evidence for a Gestalt view of behavior in our paradigm challenges some fundamental assumptions in current (tacitly Structuralist) action control theories (in particular the idea that all actions are represented compositionally with reference to their components), provides a novel explanatory angle for understanding complex, highly synchronized human behavior (e.g., dance), and delimitates the degree to which complex behavior can be analyzed in terms of its basic components.
Gestalt neurons and emergent properties in visual perception: A novel concept for the transformation from local to global processing
Spillmann L, Hsu LC, Wang W, Chen CC, Yeh CI and Tseng CH
Gestalten in visual perception are defined by emergent properties of the whole, which cannot be predicted from the sum of its parts; rather, they arise by virtue of inherent principles, the Laws of Seeing. This review attempts to assign neurophysiological correlates to select emergent properties in motion and contour perception and proposes parallels to the processing of local versus global attributes by classical versus contextual receptive fields. The aim is to identify Gestalt neurons in the visual system to account for the Laws of Seeing in causal terms and to explain "Why do things look as they do" (Koffka, 1935, p. 76).
The Roles of Lifetime Enacted Stigma in Tic Symptoms among Young Adults with Tourette Syndrome
Shiu C, Chen WT, Kim B, Ricketts E, Stiede JT, Espil FM, Specht MW, Woods DW and Piacentini J
Although rarely framed as enacted stigma, adults with Tourette syndrome (ATS) have long suffered from discrimination associated with their tic symptoms. Given the high stress levels of enacted stigma that ATS experience, it is expected that their tic symptoms are profoundly impacted. However, the evidence linking enacted stigma to ATS's tic symptoms remains limited.
Neural representation of gestalt grouping and attention effect in human visual cortex
Wu H, Zuo Z, Yuan Z, Zhou T, Zhuo Y, Zheng N and Chen B
The brain aggregates meaningless local sensory elements to form meaningful global patterns in a process called perceptual grouping. Current brain imaging studies have found that neural activities in V1 are modulated during visual grouping. However, how grouping is represented in each of the early visual areas, and how attention alters these representations, is still unknown.
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33
Luo H, Chang R, Liu F and Gao X
Wolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) underwent amniocentesis at 18 weeks gestation because of the short nasal bone of the fetus on prenatal ultrasound. Chromosomal microarray analysis (CMA) on uncultured amniocytes revealed a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33, spanning from position 40 000 to 11 400 000 (hg19). After genetic counselling and being informed of the unfavorable prognosis, the parents decided to terminate the pregnancy. We provide a detailed description of a de novo 11.36-Mb deletion on chromosome 4p16.3p15.33 (Wolf-Hirschhorn syndrome). CMA has more advantages than karyotype analysis in detecting chromosomal microdeletions/microduplications. A combination of karyotype analysis, CMA, prenatal ultrasound, and genetic counseling is helpful for the prenatal diagnosis of chromosomal deletions/duplications.
Illusion as a Cognitive Clash Rooted in Perception
Zavagno D
Illusions are important 'tools' in the study of perceptual processes. Their conception is typically linked to the notion of veridicality in a dual-world framework, in which we either see the macro physical world as it is (ecological approaches) or we derive a faithful representation (cognitive approaches) of it. Within such theoretical views, illusions are errors caused by inadequate sensory information (because of poor quality, insufficient quantity, contradictory, etc.). From a phenomenological stance, however, experiencing an illusion does not relate to the physical quality of the distal or proximal stimulus; rather, it depends on a comparison between the actual perception and what one believes should be perceived given the knowledge s/he has gained about the physical stimulus. Within such a framework, illusions are still considered of extreme importance in the study of the processes underpinning perception, but they are not conceived as errors. They represent instead a cognitive clash between actual perception and hypothesized perception based on some sort of comparison, thus also showing their potential as a tool for studying the underpinnings of cognitive processes.
About the Need for a More Adequate Way to Get an Understanding of the Experiencing of Aesthetic Items
Carbon CC
We live in times when neuroscientific methods have become standard methods that many researchers can easily use. While this offers excellent opportunities to understand brain activities linked with aesthetic processing, we face the problem of using sophisticated techniques without a proper and valid theoretical foundation of aesthetics. A further problem arises from sophisticated methods often demanding strict constraints in presenting and experiencing aesthetic stimuli. However, when experiencing aesthetic items, contextual factors matter, e.g., social and situational affordances are essential in triggering a true and deep "Kunsterlebnis" (Experience of Art). Additionally, in Art, it is often not the artwork as an object that matters but the close relationship and the processing the artwork. However, art is only one facet of the whole aesthetic domain, beside, e.g., design, architecture, everyday aesthetics, dance, literature, music, and opera. In the present paper, I propose a dynamic and holistic aesthetic perspective that includes the respective context, situation, cognitive and affective traits and state of the beholder, ongoing processes of understanding, Zeitgeist, and other cultural factors, which can be applied to different aesthetic domains. When ignoring such temporal and dynamic factors, we will not understand the qualia of aesthetic processing. These considerations might help researchers in the field of aesthetics to better understand the experiencing of aesthetic items of all kinds-if we ignore these factors, we are missing the essence of experiencing aesthetic items, especially artworks. We aim to sensitize and inform readers about these ideas to inspire a deeper understanding of experiencing aesthetic items and the advancement of a theoretical framework addressing the experiencing of aesthetics from different domains.
Hierarchical motion perception as causal inference
Shivkumar S, DeAngelis GC and Haefner RM
Since motion can only be defined relative to a reference frame, which reference frame guides perception? A century of psychophysical studies has produced conflicting evidence: retinotopic, egocentric, world-centric, or even object-centric. We introduce a hierarchical Bayesian model mapping retinal velocities to perceived velocities. Our model mirrors the structure in the world, in which visual elements move within causally connected reference frames. Friction renders velocities in these reference frames mostly stationary, formalized by an additional delta component (at zero) in the prior. Inverting this model automatically segments visual inputs into groups, groups into supergroups, etc. and "perceives" motion in the appropriate reference frame. Critical model predictions are supported by two new experiments, and fitting our model to the data allows us to infer the subjective set of reference frames used by individual observers. Our model provides a quantitative normative justification for key Gestalt principles providing inspiration for building better models of visual processing in general.
Clinical gestalt in identifying pulmonary embolism: does one size fit all?
Zhu YJ and Huo Y
Journeying Apart: Exploring Informal Caregiver Experiences and Unmet Closures in Caring for COVID-19 Deceased
Kulkarni A, Salave M and Deuskar M
The current study investigates the experiences and expectations of informal caregivers who lost their loved ones to the COVID-19 virus. The unusual circumstances of the deaths including physical isolation from their loved ones during the final hours before death significantly impacted their grieving process. In this interpretative phenomenological study, caregivers' experiences are explored through the lens of grief models and Gestalt perspectives. By thematic coding, seven superordinate themes emerged: Inability to accept death, Unfair nature of death, Helplessness, Regret and self-blame, Shattering of assumptive world, Using work as a distraction and Lack of government facilities. The findings of this study suggest that a significant number of informal caregivers continue suffering through the distress caused by the death of their loved ones in the pandemic, highlighting the need for grief counselling interventions for such bereaved informal caregivers.
Prägnanz in visual perception
Van Geert E and Wagemans J
How do we perceptually and cognitively organize incoming stimulation? A century ago, Gestalt psychologists posited the law of Prägnanz: psychological organization will always be as 'good' as possible given the prevailing conditions. To make the Prägnanz law a useful statement, it needs to be specified further (a) what a 'good' psychological organization entails, (b) how the Prägnanz tendency can be realized, and (c) which conditions need to be taken into account. Although the Gestalt school did provide answers to these questions, modern-day mentions of Prägnanz or good Gestalt often lack these clarifications. The concept of Prägnanz has been (mis)understood in many different ways, and by looking back on the rich history of the concept, we will attempt to present a more fine-grained view and promote a renewed understanding of the central role of Prägnanz in visual perception and beyond. We review Gestalt psychology's answers to the questions listed above, and also discuss the four main uses of the Prägnanz concept in more detail: (a) a Prägnanz tendency in each organizational process, (b) Prägnanz as a property of a Gestalt, (c) Prägnanz steps as internal reference points, and (d) Prägnanz in relation to aesthetic appreciation. As a key takeaway, Prägnanz is a multifaceted Gestalt psychological concept indicating the "goodness" of an experienced organization. Both the removal of unnecessary details and the emphasis on characteristic features of the overall organization compared to a reference organization can contribute to the emergence of a 'better' Gestalt. The stimulus constellation is not the only factor in determining the goodness of an organization, also the stimulus' interaction with an individual in a specific spatial and temporal context plays a role. Taking the ideas on Prägnanz as a generative framework and keeping the original Gestalt psychological context in mind, future research on perceptual organization can improve our understanding of the principles underlying psychological organization by further specifying how different organizational principles interact in concrete situations. Public significance statement: This paper reviews what a 'good' psychological organization entails, and how the incoming stimulation is clarified in human perception to achieve the best possible psychological organization. The review debunks common misconceptions on the meaning of "goodness" and synthesizes the most important perspectives and developments on "goodness" from its conception until now.
Looking for the Edge of the World: How 3D Immersive Audio Produces a Shift from an Internalised Inner Voice to Unsymbolised Affect-Driven Ways of Thinking and Heightened Sensory Awareness
Sadia S and Carbon CC
In this practice-based case study, we investigate the subjective aesthetic and affective responses to a shift from 2D stereo-based modelling to 3D object-based Dolby Atmos in an audio installation artwork. Dolby Atmos is an infinite object-based audio format released in 2012 but only recently incorporated into more public-facing formats. Our analysis focuses on the artist Sadia Sadia's 30-channel audio installation 'Notes to an Unknown Lover', based on her book of free verse poetry of the same title, which was rebuilt and reformatted in a Dolby Atmos specified studio. We examine what effect altered spatiality with an infinite number of 'placements' has on the psychoacoustic and neuroaesthetic response to the text. The effectiveness of three-dimensional (3D) object-based audio is interrogated against more traditional stereo and two-dimensional (2D) formats regarding the expression and communication of emotion and what effect altered spatiality with an infinite number of placements has on the psychoacoustic and neuroaesthetic response to the text. We provide a unique examination of the consequences of a shift from 2D to wholly encompassing object-based audio in a text-based artist's audio installation work. These findings may also have promising applications for health and well-being issues.
Framing Slogans for Responsible Gambling Campaigns: A Tale of Two Models
Lim L and Wang VX
This study investigates the persuasive mechanism of slogans employed in responsible gambling campaigns. We analyse slogans from official posters in the U.S., Singapore, and Macau, focusing on two domains. First, the Theory of Planned Behaviour is applied to examine the intention to gamble expressed in the slogans to reveal how gambling is positioned in social contexts. Second, two framing devices-i.e., conceptual metaphors and the frame of gains/losses-are examined to understand how these framing devices reinforce the persuasive message while interacting with each other. Two models of persuasion emerge from our data-one encouraged 'grounded games' for enjoyment, while the other discouraged gambling due to its potentially 'harmful' consequences. We advocate for a gestalt view on the theoretical constructs that contribute to the overall effectiveness of persuasive messaging. These constructs should be integrated into an analytical framework, with particular attention given to the framing effect of conceptual metaphors and the gain/loss frame, and their interplay.
Improvements in Treatment Adherence after Family Psychoeducation in Patients Affected by Psychosis: Preliminary Findings
Iuso S, Severo M, Trotta N, Ventriglio A, Fiore P, Bellomo A and Petito A
(1) Background: Family psychoeducation is a well-recognized intervention which aims to improve the outcomes of illness in patients affected by psychosis. It has benefits in treatment adherence and leads to a reduction in relapses, higher levels of patient insight, and lower levels of stress within the family and among caregivers. (2) Methods: Eight patients and their families were recruited and randomly assigned to a Falloon-based family psychoeducation (FPP) intervention, and nine patients and their families were randomized to a Gestalt-based family intervention (GT). We compared the outcomes of these two treatment groups at a baseline assessment (T0), at the end of the programs (T1), and 6 and 12 months after the end of the programs (T2 and T3). The assessments included examinations of cognition (The Mini-Mental State Examination (MMSE) and The Five Point Test (5 Point)), the psychopathology and severity of illness (The Brief Psychiatric Rating Scale (BPRS), The Positive and Negative Syndrome Scale (PANSS), and The Clinical Global Impression Scale (CGI)), expressed emotion in families (Expressed Emotionality (Family Questionnaire-EE)), patient quality of life (The World Health Organization Quality of Life-BREF (WHOQOL-B)), social functioning (The Personal Social Performance (SPS)), aggression (Modified Overt Aggression Scale (MOAS)), and treatment adherence (The Brief Medication Adherence Report Scale (BMARS)). The primary aim was to test whether the FFP vs. GT program was more effective in improving treatment adherence over time. (3) Results: treatment adherence improved much more in the FFP group over time at any follow-up: +43.1% at T1, +24.0% at T2, and +41.6% at T3. Other characteristics, including psychopathology and the clinical stability of the subject, did not change over time. (4) Discussion: Family psychoeducation based on the Falloon program was effective at improving treatment adherence and contributed to avoiding relapses in the long term. Further studies on larger samples should be conducted to confirm this evidence, and similar psychoeducational programs should be routinely promoted in the clinical setting.
BMP2 is a potential causative gene for isolated dextrocardia situs solitus
Yogi A, Iemura R, Nakatani H, Takasawa K, Gau M, Yamauchi T, Yoshida M, Moriyama K, Ishii T, Hosokawa S, Yamada M, Suzuki H, Kosaki K, Kashimada K and Morio T
BMP2 (bone morphogenic protein-2) is a member of the TGF-β superfamily and has essential roles in the development of multiple organs, including osteogenesis. Because of its crucial role in organ and skeletal development, Bmp2 null mice is fetal lethal. The recent report has characterized multiple patients with BMP2 haploinsufficiency, describing individuals with BMP2 sequence variants and deletions associated with short stature without endocrinological abnormalities, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. However, due to a small number of reported patients with BMP2 haploinsufficiency, the genotype and phenotype correlations are not fully understood. We experienced a family of BMP2 haploinsufficiency with a novel frameshift variant NM_001200.4: c.231dup (p.Tyr78Leufs*38) which was predicted to be "pathogenic" by the American College of Genetics and Genomics (ACGM) criteria. In addition to short stature, impaired hearing ability and minor skeletal deformities, the proband exhibited isolated dextrocardia situs solitus without cardiac anomalies and abnormal locations of other visceral organs. Our study would shed light on the crucial role of BMP2 in determining the cardiac axis, and further studies are needed to assemble more cases to elucidate BMP2 role in human heart development.
Computational facial analysis for rare Mendelian disorders
Hsieh TC and Krawitz PM
With the advances in computer vision, computational facial analysis has become a powerful and effective tool for diagnosing rare disorders. This technology, also called next-generation phenotyping (NGP), has progressed significantly over the last decade. This review paper will introduce three key NGP approaches. In 2014, Ferry et al. first presented Clinical Face Phenotype Space (CFPS) trained on eight syndromes. After 5 years, Gurovich et al. proposed DeepGestalt, a deep convolutional neural network trained on more than 21,000 patient images with 216 disorders. It was considered a state-of-the-art disorder classification framework. In 2022, Hsieh et al. developed GestaltMatcher to support the ultra-rare and novel disorders not supported in DeepGestalt. It further enabled the analysis of facial similarity presented in a given cohort or multiple disorders. Moreover, this article will present the usage of NGP for variant prioritization and facial gestalt delineation. Although NGP approaches have proven their capability in assisting the diagnosis of many disorders, many limitations remain. This article will introduce two future directions to address two main limitations: enabling the global collaboration for a medical imaging database that fulfills the FAIR principles and synthesizing patient images to protect patient privacy. In the end, with more and more NGP approaches emerging, we envision that the NGP technology can assist clinicians and researchers in diagnosing patients and analyzing disorders in multiple directions in the near future.
Young People and the Future: School Students' Concerns and Hopes for the Future after One Year of COVID-19 in Austria-Findings of a Mixed-Methods Pilot Study
Fehkührer S, Humer E, Kaltschik S, Pieh C, Probst T, Diestler G and Jesser A
The COVID-19 pandemic resulted in enormous changes in everyday life and numerous burdens for adolescents. This pilot study focused on how young people look to the future in the face of these burdens. Responses to two open-ended questions on concerns and hopes for the future that were part of a larger online survey on the mental health of school students in Austria were analyzed using qualitative content analysis. Subsequently, differences in the experiences of boys and girls, young people with and without a migration background and psychologically stressed and non-stressed young people were examined by applying a mixed-methods approach. Data collection took place from 3 February to 28 February 2021. From a total survey sample of 3052 adolescents aged 14-20, a representative sample according to gender and migration background ( = 500) was drawn. Qualitative content analysis revealed several areas of concern about the future, including school-related concerns, concerns about the further development of the pandemic and the associated restrictions, concerns related to a lack of locus of control, health-related concerns and concerns about social relationships. The analysis also indicated young people's greatest hopes for the future, such as hopes related to further pandemic development, hopes regarding major life goals, school, social relationships and health. Young people's experiences differ according to gender, migration background and the extent of psychological distress. This study contributes to research on the psychological well-being of adolescents during the pandemic and provides important insights into the subjective experience of young people. It aims to gain a more comprehensive understanding of the concerns and hopes for the future of young people in a time marked by various challenges. The results of the study should be used to develop ideas for measures, such as the expansion of school psychological services and low-threshold support services for students, such as school social work and counseling.
[Vaskuläre Dyspnoe: Lungenembolie]
Arrigo MC and Huber LC
In clinical practice, the differentiation of pulmonary embolism from other entities often remains difficult. Of utmost importance is the estimation of the pretest probability of the disease: predictive scoring systems and the use of clinical gestalt are equally useful tools. Exclusion or confirmation of the disease requires the rationale use of additional investigations (laboratory, imaging). In this article, we provide clinical engrams and outline our diagnostic algorithm. Based on the latest recommendations, we summarize the therapeutic approach for patients with pulmonary embolism. The importance of follow-up visits after the initial event is discussed in the last part. The assessment of risk factors promoting the development of venous thromboembolism is crucial for estimating the risk of recurrence. Excessive screening (thrombophilia testing or tumor investigations) are of minor relevance.
Comparative evaluation of isoflurane and desflurane for postoperative cognitive decline in elderly patients: A prospective observational pilot study
Haritha D, Sarkar S, Maitra S, Kashyap S, Verma R, Satapathy S, Kashyap L, Singh AK, Singh L, Ray BR, Anand RK, Kumar S and Khanna P
Approximately 16%-62% of patients undergoing non cardiac surgeries develop postoperative cognitive dysfunction. We compared the incidence of postoperative cognitive dysfunction in older adults aged 60-80 years who underwent open abdominal surgeries under general anaesthesia using isoflurane or desflurane and correlated it with the serum concentration of interleukin 1, interleukin 6, tumour necrosis factor alpha, amyloid β and S100 on postoperative day 3.
Broadening the Capture of Natural Products Mentioned in FAERS Using Fuzzy String-Matching and a Siamese Neural Network
Dilán-Pantojas I, Boonchalermvichien T, Taneja S, Li X, Chapin M, Karcher S and Boyce RD
Increased sales of natural products (NPs) in the US and growing safety concerns highlight the need for NP pharmacovigilance. A challenge for NP pharmacovigilance is ambiguity when referring to NPs in spontaneous reporting systems. We used a combination of fuzzy string-matching and a neural network to reduce this ambiguity. We aim to increase the capture of reports involving NPs in the US Food and Drug Administration Adverse Event Reporting System (FAERS). Gestalt pattern-matching (GPM) and Siamese neural network (SM) were used to identify potential mentions of NPs of interest in 389,386 FAERS reports with unmapped drug names. We refined the identified candidates through manual review and annotation by health professionals. After adjudication, GPM identified 595 unique NP names and SM 504. There was little overlap between candidates identified by the approaches (Non-overlapping: GPM 347, SM 248). In total, 686 novel NP names were identified in the unmapped FAERS reports. Including these names in the FAERS collection yielded 3,486 additional reports mentioning NPs.
A survey of paediatric difficult peripheral intravenous access in the emergency department and use of point-of-care ultrasound
Lam C, Dunstan L, Sweeny A, Watkins S, George S and Snelling PJ
Peripheral intravenous catheter (PIVC) insertion can be challenging in children, with point-of-care ultrasound (POCUS) known to increase success rates. The objective of this study was to survey how emergency department (ED) clinicians identify and escalate paediatric patients with difficult intravenous access (DIVA), specifically the use of POCUS.
Gestalt theory in 20th-century history
Westheimer G
During the century from the 1890 publication of Ehrenfels's proposition on Gestaltqualitäten to the 1989 dissolution of the European states governed by Marxist orthodoxy, Gestalt theory was drawn into the political fray in several ways. It was grotesquely misappropriated during the Nazi regime in support of race, territorial expansion, and war aims. On the other side, because it was seen as having a subjectivist taint, the Gestalt approach was anathema where dialectical materialist dogma reigned. In contrast, close reading of the seminal 1912 Wertheimer paper and the 1920 Köhler book reveals that the Gestalt founders' views accord well with current Gestalt research.
Epigenetic signature of human immune aging in the GESTALT study
Roy R, Kuo PL, Candia J, Sarantopoulou D, Ubaida-Mohien C, Hernandez D, Kaileh M, Arepalli S, Singh A, Bektas A, Kim J, Moore AZ, Tanaka T, McKelvey J, Zukley L, Nguyen C, Wallace T, Dunn C, Wood W, Piao Y, Coletta C, De S, Sen J, Weng NP, Sen R and Ferrucci L
Age-associated DNA methylation in blood cells convey information on health status. However, the mechanisms that drive these changes in circulating cells and their relationships to gene regulation are unknown. We identified age-associated DNA methylation sites in six purified blood-borne immune cell types (naive B, naive CD4 and CD8 T cells, granulocytes, monocytes, and NK cells) collected from healthy individuals interspersed over a wide age range. Of the thousands of age-associated sites, only 350 sites were differentially methylated in the same direction in all cell types and validated in an independent longitudinal cohort. Genes close to age-associated hypomethylated sites were enriched for collagen biosynthesis and complement cascade pathways, while genes close to hypermethylated sites mapped to neuronal pathways. In silico analyses showed that in most cell types, the age-associated hypo- and hypermethylated sites were enriched for ARNT (HIF1β) and REST transcription factor (TF) motifs, respectively, which are both master regulators of hypoxia response. To conclude, despite spatial heterogeneity, there is a commonality in the putative regulatory role with respect to TF motifs and histone modifications at and around these sites. These features suggest that DNA methylation changes in healthy aging may be adaptive responses to fluctuations of oxygen availability.
Alcohol Withdrawal with Delirium Tremens
Schwebach C and Vempati A
Emergency medicine (EM) residents (1 year and 2 year levels), 4th year medical students and advanced practice providers.
Review: Non-surgical artificial insemination and embryo recovery as safe tools for genetic preservation in small ruminants
Souza-Fabjan JMG, Oliveira MEF, Guimarães MPP, Brandão FZ, Bartlewski PM and Fonseca JF
Artificial insemination (AI) and in vivo embryo production (or multiple ovulation and embryo transfer, MOET) programs are both instrumental in accelerating the propagation of genetically and economically superior goats and sheep. The aim of this review was to present the current gestalt of non-surgical AI and embryo recovery (NSER) procedures in small ruminants. Small body size, precluding rectal palpation, and highly limited penetrability of the uterine cervix in ewes are the major reasons for the scarce use of non-surgical assisted reproduction techniques in this species. As a result, AI and embryo recovery techniques in sheep mainly involve laparoscopy or laparotomy (LAP). In does, however, the Embrapa method of AI allows for successful intrauterine deposition of semen, resulting in pregnancy rates from 50 to 80% under field conditions (>3 000 goats inseminated) when frozen-thawed semen is used. After the administration of prostaglandin F (PGF), non-surgical (transcervical) embryo recovery is also feasible in goats, with the cervical penetration rate approaching 100%. There is a paucity of information on the efficacy of non-surgical AI using frozen semen in sheep, but the results are satisfactory with fresh, cooled, or chilled ram semen. An application of the NSER technique in ewes has greatly improved over the last decade, and cervical penetration rates of ∼90% can be achieved when a hormonal cervical dilation protocol using PGF, oxytocin, and/or estradiol ester (e.g., estradiol benzoate) is applied. In some genotypes of sheep, sufficient cervical dilation can be induced without estradiol ester included in the protocol. Several studies indicated that recovery of transferable quality ovine embryos using NSER is comparable to that employing a ventral midline laparotomy, and NSER is evidently a method of choice when animal welfare is concerned. Considering both the number of retrievable embryos and animal well-being, the NSER is a viable alternative for surgical procedures. With further developments, it has the makings of a primary, if not exclusive, embryo recovery technique in small ruminants worldwide.
The Effectiveness of Integrated Group Therapy on Prolonged Grief Disorder of Bereaved People from COVID-19 Randomized Controlled Trial
Bardideh F, Jarareh J, Mofrad M and Bardideh K
This study aimed to evaluate the integrated cognitive-behavioral group therapy and Gestalt empty chair technique on bereaved individuals with COVID-19-caused PGD (prolonged grief disease). Thirty-six patients with PGD resultant from COVID-19 were randomly assigned intervention and control groups. The intervention group underwent 16 90-minute integrated group therapy sessions twice a week. Both groups completed the BDI II depression, NAI anger, and GASP guilt scale before, after, and 2 months after the study's conclusion. The intervention and control groups significantly differed in the depression, anger, and guilt indices after the therapeutic intervention ( < .001). This difference remained in the follow-up phase. Integrated group therapy in treating could help with some of the symptoms of PGD resulting from the corona-caused loss of loved ones. This reduction in symptoms was also stable over time.
The dynamics of experiencing Gestalt and Aha in cubist art: pupil responses and art evaluations show a complex interplay of task, stimuli content, and time course
Spee BTM, Arato J, Mikuni J, Tran US, Pelowski M and Leder H
Gestalt perception refers to the cognitive ability to perceive various elements as a unified whole. In our study, we delve deeper into the phenomenon of Gestalt recognition in visual cubist art, a transformative process culminating in what is often described as an Aha moment. This Aha moment signifies a sudden understanding of what is seen, merging seemingly disparate elements into a coherent meaningful picture. The onset of this Aha moment can vary, either appearing almost instantaneously, which is in line with theories of hedonic fluency, or manifesting after a period of time, supporting the concept of delayed but more in-depth meaningful insight.
Factors contributing to the mental wellbeing of Afghan migrants in Iran during the COVID-19 pandemic
Khozaei F, Islam QU, Ramayah T, Ayub N and Carbon CC
This study aims to explore the factors contributing mental health of Afghan migrants residing in Iran during the COVID-19 pandemic. With a deep understanding of the unique challenges encountered by migrants, especially during times of crisis, this research delves into the influential factors of experienced anxiety, social cohesion, and stress and their significant contribution to the development of depression among Afghan migrants. The study included a sample of 469 individuals from the Afghan migrant community, aged 15 to 80 years. Data collection took place from December to March 2022 in Iran. The study revealed that anxiety and the burden of the COVID-19 pandemic significantly influenced the occurrence of depression among Afghan migrants. Furthermore, the relationship between these factors and depression was mediated by the experience of stress. Conversely, higher levels of perceived social cohesion in the host country were linked to reduced stress and depression among the migrants. As Afghan migrants in Iran face a heightened risk of developing depression, the importance of social support and integration is underscored by the association between higher levels of perceived social cohesion in the host country and reduced levels of stress and depression. Recognizing the vulnerabilities of this population, it becomes evident that fostering social support networks and promoting integration can play a crucial role in mitigating the negative impact of migration-related stressors and enhancing mental wellbeing among this population.
Common mental disorders in Gestalt therapy treatment: a multiple case study comparing patients with moderate and low integrated personality structures
Kaisler RE, Fede M, Diltsch U, Probst T and Schaffler Y
Empowerment is central to self-development and growth in Gestalt therapy. The self evolves through interactions with others, forming self- and object-relations, and ego-functions. Underlying structural functions build the ability to regulate, differentiate, and integrate experiences, leading to self-, and emotion-regulation. Our study examined the self-development of seven clients with prevalent mental health issues and structural challenges, all of whom underwent 30 sessions of Gestalt therapy in a real-world individual therapy context.
Rapid predictive dosimetry for Second Strike prescription based on whole body radioiodine kinetics in differentiated thyroid cancer
Kao YH
In systemic radionuclide therapy such as radioiodine (I-131) for differentiated thyroid cancer, post-therapy dosimetry is essential to verify pre-therapy predictions, which in turn informs the next treatment. However, post-therapy multi-time point dosimetry is resource intensive and unfeasible in many institutions. We devised a schema of rapid predictive dosimetry by circumventing post-First Strike multi-time point dosimetry with carefully assigned gestalt values of predicted kinetics to personalise the Second Strike prescription.
Gestalt formation promotes awareness of suppressed visual stimuli during binocular rivalry
Nikiforova MS, Cowell RA and Huber DE
Continuous flash suppression leverages binocular rivalry to render observers unaware of a static image for several seconds. To achieve this effect, rapidly flashing noise masks are presented to the dominant eye while a static stimulus is presented to the non-dominant eye. Eventually "breakthrough" occurs, wherein awareness shifts to the static image shown to the non-dominant eye. We tested the hypothesis that Gestalt formation can promote breakthrough. In two experiments, we presented pacman-shaped objects that might or might not align to form illusory Kanizsa objects. To measure the inception of breakthrough, observers were instructed to press a key at the moment of partial breakthrough. After pressing the key, which stopped the trial, observers reported how many pacmen were seen and where they were located. Supporting the Gestalt hypothesis, breakthrough was faster when the pacmen were aligned and observers more often reported pairs of pacmen if they were aligned. To address whether these effects reflected illusory shape perception, a computational model was applied to the pacman report distributions and breakthrough times for an experiment with four pacmen. A full account of the data required an increased joint probability of reporting all four pacmen, suggesting an influence of a perceived illusory cross.
Retracted: The Application of the Gestalt Theory in Music Psychotherapy for Piano
International OT
[This retracts the article DOI: 10.1155/2022/2119111.].
Neuromagnetic representation of musical roundness in chord progressions
Wöhrle SD, Reuter C, Rupp A and Andermann M
Musical roundness perception relies on consonance/dissonance within a rule-based harmonic context, but also on individual characteristics of the listener. The present work tackles these aspects in a combined psychoacoustic and neurophysiological study, taking into account participant's musical aptitude.
Probing the genomic landscape of human sexuality: a critical systematic review of the literature
Bragazzi NL, Converti M, Crapanzano A, Zerbetto R, Siri A and Khamisy-Farah R
Whether human sexuality is the result of nature or nurture (or their complex interplay) represents a hot, often ideologically driven, and highly polarized debate with political and social ramifications, and with varying, conflicting findings reported in the literature. A number of heritability and behavioral genetics studies, including pedigree-based investigations, have hypothesized inheritance patterns of human sexual behaviors. On the other hand, in most twin, adoption, and nuclear family studies, it was not possible to disentangle between underlying genetic and shared environmental sources. Furthermore, these studies were not able to estimate the precise extent of genetic loading and to shed light both on the number and nature of the putative inherited factors, which remained largely unknown. Molecular genetic studies offer an unprecedented opportunity to overcome these drawbacks, by dissecting the molecular basis of human sexuality and allowing a better understanding of its biological roots if any. However, there exists no systematic review of the molecular genetics of human sexuality. Therefore, we undertook this critical systematic review and appraisal of the literature, with the ambitious aims of filling in these gaps of knowledge, especially from the methodological standpoint, and providing guidance to future studies. Sixteen studies were finally retained and overviewed in the present systematic review study. Seven studies were linkage studies, four studies utilized the candidate gene approach, and five studies were GWAS investigations. Limitations of these studies and implications for further research are discussed.
Non-Surgical Treatment of Symptomatic, Oblique Strabismus: A Simplified Approach
Christoff A
Determining the correct power and orientation of prism to be prescribed for patients with symptomatic, oblique-angle strabismus can be challenging and confusing, prone more to clinician gestalt than science or methodology. The author shares a simplified, approach not previously described in the scientific literature that utilizes commercially available equipment and freely available on-line prism calculators for choosing the correct Press-On™ prism power, positioning the prism correctly on the spectacle lens, and ultimately determining the correct prism prescription to be incorporated into the patient's spectacles.
The golden ratio in baseball: the influence of historical eras on winning percentages in major league baseball
Cairney J, Townsend S, Brown DMY, Graham JD, Richard V and Kwan MYW
The golden section or golden ratio (61.8% or 0.618) is a mathematical phenomenon that appears in art, literature, music and nature with such ubiquity that it is thought to be a fundamental principle of aesthetic organisation. The golden ratio also manifests in sport, particularly as the proportion of wins to losses required to win a Major League Baseball championship. This study extends early work on the golden ratio in baseball by incorporating more than three decades of additional data.
Naturalistic face adaptation: How we adapt to freckles fast and sustainably
Utz S, Mueller R, Strobach T and Carbon CC
While sunbathing, our skin becomes susceptible to quite remarkable changes in visual appearance, that is, freckles appear or increase in intensity-most obviously on the face. Research on face adaptation repeatedly showed that the inspection of manipulated versions of faces (so-called adaptor faces) leads to robust and sustainable changes in the perception of subsequently presented faces. Therefore, during the adaptation phase of the present study, participants saw faces with either strongly increased or decreased intensities of freckles. After a 5-minute break, during the test phase, participants had to identify the veridical (non-manipulated) face out of two faces (a slightly manipulated face combined with a non-manipulated face). Results showed strong adaptation effects to increased and decreased levels of freckles. We conclude that updating facial representations in memory is relatively fast, and these representation updates seem to sustain over a certain time span (at least 5 minutes). Face-specificity of our effects will be discussed. The results align with our everyday experience that the appearance of freckles in spring is a salient change in a familiar face; however, we seem to not register these changes after a few exposures due to a loss of information quality.
An eye tracking study of the application of gestalt theory in photography
Chuang HC, Tseng HY and Tang DL
Photography is an art form where integration of the human visual perception and psychological experiences result in aesthetic pleasure. This research utilizes eye tracking to explore the impact of the properties of Gestalt in photography on people's visual cognitive process in order to understand the psychological processes and patterns of photography appreciation. This study found that images with Gestalt qualities can significantly affect fixation, sightline distribution, and subjective evaluation of aesthetics and complexity. Closure composition images seem to make cognition simpler, resulting in the least number of fixation and saccades, longer fixation duration, and more concentrated sightline indicating stronger feeling of beauty, while images which portray similarity results in the greatest fixation and saccades, longest saccade duration, and greater scattering of sightline, indicating feelings of complexity and unsightliness. The results of this research are closely related to the theories of art and design, and have reference value for photography theory and application.
Predictors of Readmission, for Patients with Chronic Obstructive Pulmonary Disease (COPD) - A Systematic Review
Chow R, So OW, Im JHB, Chapman KR, Orchanian-Cheff A, Gershon AS and Wu R
Chronic obstructive pulmonary disease (COPD) is the third-leading cause of death globally and is responsible for over 3 million deaths annually. One of the factors contributing to the significant healthcare burden for these patients is readmission. The aim of this review is to describe significant predictors and prediction scores for all-cause and COPD-related readmission among patients with COPD.
A Fundamental Question for Complementary Medicine: Are There Other Forces in the Natural World Besides the Physical Forces?
Kiene H and Hamre HJ
The integration of conventional and complementary medicine reflects the pluralism in science. Still, a critical issue is the conception of the natural world. Many complementary therapy systems seem to contradict the reductionist-atomistic paradigm that all of natural reality is essentially based on the physical interactions of atoms and molecules. Thus, a fundamental question about the natural world is: Do other than the physical forces exist?
To Reveal or Not to Reveal, That Is the Wrong Question: Thoughts about Clinical Writing in Psychoanalysis
Kanwal GS
This paper plays with the possibilities of writing about psychoanalytic work in different ways with different levels of disclosure about both patient and analyst. Various issues around anonymity, confidentiality, consent and identity are explored, highlighting the many questions that come up. These issues of how to write psychoanalytically are also addressed from the point of view of culture and the sociopolitical gestalt of our time.
Tracking Lexical and Semantic Prediction Error Underlying the N400 Using Artificial Neural Network Models of Sentence Processing
Lopopolo A and Rabovsky M
Recent research has shown that the internal dynamics of an artificial neural network model of sentence comprehension displayed a similar pattern to the amplitude of the N400 in several conditions known to modulate this event-related potential. These results led Rabovsky et al. (2018) to suggest that the N400 might reflect change in an implicit predictive representation of meaning corresponding to semantic prediction error. This explanation stands as an alternative to the hypothesis that the N400 reflects lexical prediction error as estimated by word surprisal (Frank et al., 2015). In the present study, we directly model the amplitude of the N400 elicited during naturalistic sentence processing by using as predictor the update of the distributed representation of sentence meaning generated by a sentence gestalt model (McClelland et al., 1989) trained on a large-scale text corpus. This enables a quantitative prediction of N400 amplitudes based on a cognitively motivated model, as well as quantitative comparison of this model to alternative models of the N400. Specifically, we compare the update measure from the sentence gestalt model to surprisal estimated by a comparable language model trained on next-word prediction. Our results suggest that both sentence gestalt update and surprisal predict aspects of N400 amplitudes. Thus, we argue that N400 amplitudes might reflect two distinct but probably closely related sub-processes that contribute to the processing of a sentence.
escheR: unified multi-dimensional visualizations with Gestalt principles
Guo B, Huuki-Myers LA, Grant-Peters M, Collado-Torres L and Hicks SC
The creation of effective visualizations is a fundamental component of data analysis. In biomedical research, new challenges are emerging to visualize multi-dimensional data in a 2D space, but current data visualization tools have limited capabilities. To address this problem, we leverage Gestalt principles to improve the design and interpretability of multi-dimensional data in 2D data visualizations, layering aesthetics to display multiple variables. The proposed visualization can be applied to spatially-resolved transcriptomics data, but also broadly to data visualized in 2D space, such as embedding visualizations. We provide an open source R package escheR, which is built off of the state-of-the-art ggplot2 visualization framework and can be seamlessly integrated into genomics toolboxes and workflows.
Routine investigations for patients with mental and behavioural disturbances
Jere SMKK, Van Koningsbruggen C, Du Toit M and Hendrikse C
The process of medical clearance aims to exclude a general medical condition as an underlying cause for mental and behavioural disorders and involves routine screening with special investigations. Current evidence, however, suggests that clinician gestalt should guide the need for special investigations and that there is no benefit to routine screening.
Neither entrepreneurship nor intrapreneurship: a review of how to become an innovative split-off start-up
Knossalla CE and Carbon CC
Splitting off departments from corporations in order to establish corporate start-ups has become of strategic importance for the performance and innovation of corporations. While the settlement process is widely practiced, there is a lack of knowledge of how entrepreneurship may exist in such split-offs. The main aim of this study was to explore how entrepreneurship in corporate start-ups can exist in order to contribute to corporate performance. Based on a systematic literature review from 2021 to 2023, which resulted in a total of 1,516 scientific, English-language articles in economic journals, a total of 150 articles were analyzed in-depth. Our research shows that it is of crucial importance that corporations position leaders with an appropriate mindset and behavior at all levels as early as starting the split-off process, which is, however, neither entrepreneurship nor intrapreneurship. The niche corporative start-up area shows that entrepreneurship is a continuum and requires a new definition of corporate start-up entrepreneurship (CSE). For corporate start-ups to be successful, we revealed that there needs to be (1) the appropriate legal form, which ensures ownership but also the risk of the leaders, (2) an explorative business rather than exploitation, (3) variable compensation rather than fixed and (4) corporate entrepreneurs rather than employees and managers. Implications of the findings for entrepreneurial leadership theory development and future research are discussed.
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