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Is adjunctive Cannabidiol effective in controlling seizures for adult patients with Lennox-Gastaut Syndrome? - A single centre long term follow up study
Elbadri M, Bose S, Elkider M, Hayton T, McCorry D, Sumangala S, Wysota B and Samarasekera S
Epileptic encephalopathies are a disabling and life-limiting cause of childhood-onset epilepsy. Lennox Gastaut syndrome (LGS) is a characteristic example. In spite of the development of multiple medical and surgical therapies, many patients with these conditions remain treatment refractory Cannabidiol was licenced by The National Institute for Health and Care Excellence (NICE) in December 2019 for the adjunctive treatment of seizures associated with Lennox Gastaut syndrome [TA 615]. As the largest complex epilepsy centre in the Midlands, we describe our findings from a single centre retrospective study in 50 adults (aged 16 and over) with LGS- associated epilepsy. Our outcome measure was the efficacy of Cannabidiol on seizures of differing types over a 6-24-month period. Patients were treated with adjunctive Cannabidiol (with Clobazam, as per NICE recommendations). Each patient's usual anti-seizure medications (ASMs) were continued. Patients with a Vagal Nerve Stimulator (VNS) in situ remained on this treatment. Gradual titration of Cannabidiol from 1 mg/kg/day up to 10 mg/ kg/ day reduced the frequency of both focal and generalised seizures with ≥ 50 % seizure reduction in 76 % of the cohort. No patients became seizure free. Cannabidiol was well tolerated; 94 % of the cohort remained on the drug at last follow up.
An investigation into the knowledge, attitudes, and practice of radiation protection in interventional radiology and cardiac catheter-laboratories
O'Rourke M, Moore N, Young R, Svetlic S, Bucknall H, McEntee MF and England A
According to current literature, there is a lack of information regarding the radiation protection (RP) practices of interventional radiology (IR) and cardiology catheter laboratory (CCL) staff. This study aims to determine the RP practices of staff within IR and CCLs internationally and to suggest areas for improvement.
Shifting perspectives: From "Epilepsy" to "Cerebroelectric Disorder"
Koh S, Pyo SI, Jang S, Kim G, Won Seo S, Huh K, Kwon SS and Young Choi J
Epilepsy has long been associated with stigma and misconceptions. In response, the Korean Epilepsy Society initiated the Epilepsy Renaming project in 2008 to replace the stigmatizing term with a neutral and scientifically grounded name, "cerebroelectric disorder". This study explores the impact of changing terminology on the public discourse surrounding epilepsy.
Executive function impairment is associated with low serum vitamin D levels in children with epilepsy
Wang S, Zhang H, Xia L, Liu Z, Xiao Z and Xiang D
Executive function (EF) impairment and vitamin D deficiency are common clinical features among children with epilepsy (CWE). Recently, vitamin D has become a potential modification factor that affects cognitive status in individuals with neurological disorders. In this study, we investigated the association between EF status and vitamin D levels in patients with CWE.
The traditional Chinese version of the Geriatric Anxiety Inventory: Psychometric properties and cutoff point for detecting anxiety
Pan RM, Chang HJ, Chi MJ, Wang CY and Chuang YH
The study aimed to translate the Geriatric Anxiety Inventory into traditional Chinese (GAI-TC), examine its psychometric properties, and identify the optimal cutoff point. This research recruited 337 older adults from two community activity centers. Structured questionnaires were used, including demographic information and characteristics, the GAI-TC, and the State-Trait Anxiety Inventory (STAI). Cronbach's α of the GAI-TC was 0.93. The intraclass correlation coefficient was 0.90. The content validity index was 1.0. An exploratory factor analysis revealed that three factors in the GAI-TC, including cognition anxiety, impact of anxiety, and somatic anxiety, explained 59.46 % of the variance. The criterion-related validity showed a significant positive correlation between the GAI-TC and STAI, with an optimal cutoff of 9/10 for detecting anxiety in older persons living in the community. The GAI-TC had good reliability and validity and can provide professionals with a tool for the early identification of anxiety among older adults.
Social media recruitment of participants in a female stress urinary incontinence trial: A feasibility study
de Graaf BC, Gerritse MBE, Michiels KCJ, Kluivers KB and van de Belt TH
This study explores the opportunities of social media advertisements as a recruitment strategy in women with stress urinary incontinence (SUI).
Application of LAMP assay for detection of carbapenem-resistant Acinetobacter calcoaceticus-Acinetobacter baumannii complex in ICU admitted sepsis patients: A rapid and cost-effective diagnostic tool
Sharma A, Azam M, Verma PK, Talwar V, Roy S, Veeraraghavan B, Singh R and Gaind R
Carbapenem-resistant significant members of Acinetobacter calcoaceticus-Acinetobacter baumannii (CR-SM-ACB) complex have emerged as an important cause of sepsis, especially in ICUs. This study demonstrates the application of loop-mediated-isothermal-amplification (LAMP) assay for detection of CR-SM-ACB-complex from patients with sepsis. Whole-blood and culture-broths(CB) collected from patients with culture-positive sepsis were subjected to LAMP and compared with PCR, and RealAmp. Vitek-2 system and conventional PCR results were used as confirmatory references. The sensitivity and specificity of LAMP(97 % & 100 %) and RealAmp(100 % & 100 %) for detection of CR-SM-ACB-complex from CB were better than PCR(87 % & 100 %). Diagnostic accuracy of LAMP, RealAmp, and PCR for detection of SM-ACB-complex from CB was 98.5 %, 100 %, and 88.5 % respectively. Turnaround time of Culture, LAMP, PCR, and RealAmp was 28-53, 6-20, 9-23, and 6-20hours, respectively. LAMP is a simple, inexpensive tool that can be applied directly to positive CB and may be customized to detect emerging pathogens and locally-prevalent resistance genes and to optimize antimicrobial use.
Bacterial vaginosis in pregnant women: A comparison of the Nugent Score with a multiplex PCR
Theiler T, Schoeler S, Möllers M, Schuler F, Olaru ID and Schaumburg F
We evaluated the Nugent score against a multiplex real-time PCR (reference) for diagnosing bacterial vaginosis (BV) in 140 pregnant women. The Nugent score had a sensitivity of 60 %, a specificity of 81 % and a negative predictive value of 92 % - therefore a tool to rule out BV in pregnant women.
Micro-/nanostructures for surface-enhanced Raman spectroscopy: Recent advances and perspectives
Chen R, Li S, Ren S, Han D, Qin K, Jia X, Zhou H and Gao Z
Surface-enhanced Raman spectroscopy (SERS) has great potential for the analysis of molecules adsorbed on metals with rough surfaces or substrates with micro-/nanostructures. Plasmonic coupling between metal nanoparticles and the morphology of the rough metal surface can produce "hot spots" that enhance Raman scattering by adsorbed molecules, typically at micro- to nanomolar concentrations, although high enhancement factors can also facilitate single-molecule detection. This phenomenon is widely applicable for chemical analysis and sensing in various fields. In this review, the latest research progress on SERS micro-/nanosensors is evaluated, and the sensors are classified according to their individual functions. Furthermore, the design principles and working mechanisms of reported SERS-active micro-/nanostructured substrates are analyzed, and the design features adopted to overcome the difficulties associated with precision detection are explored. Finally, challenges and directions for future development in this field are discussed. This review serves as a design guide for novel SERS-active substrates.
Multifunctional composite soluble microneedle patch based on "one stone, three birds" strategy for promoting the healing of infectious wounds
Yang W, Cao M, Wang W, Diao N, Liu X, Hu Y, Wang X, Sun T, Guo C and Chen D
The colonisation of microorganisms such as bacteria forms a biofilm barrier on the wound's surface, preventing or delaying the penetration of antibacterial drugs. At the same time, continuous bacterial infection can cause oxidative stress and an inflammatory response and hinder angiogenesis, resulting in difficult wound healing. Based on the "one stone, three birds" strategy, a multi-functional nanoparticle composite soluble microneedle was designed and developed to solve this dilemma better. Ginsenoside-liposomes(R-Lipo) were prepared by ginsenoside Rg3, which had the effect of promoting repair, instead of cholesterol, and loaded with berberine (Ber), the antibacterial component of Coptis, together with polydopamine (PDA), which had anti-inflammatory and antioxidant properties, into microneedles based on hyaluronic acid (PDA/R-Lipo@BerMN). PDA/R-Lipo@BerMN tip can penetrate and destroy the integrity of the biofilm, dissolve under the action of hyaluronidase in the skin, and gradually release the drug to achieve rapid antibacterial, anti-inflammatory, antioxidant, and proliferation. As expected, the PDA/R-Lipo@BerMN patch effectively cleared ROS during wound closure, further promoted M2 macrophage polarisation, eradicated bacterial infection, and regulated the immune microenvironment, promoting inflammation suppression, collagen deposition, angiogenesis, and tissue regeneration.
Biomimetic nanoplatforms constructed from dialkylaminostyryl hetarene dyes and phospholipids exhibiting selective fluorescent response to specific proteins
Akhmadeev B, Retyunskaya O, Islamova L, Fazleeva G, Kalinin A, Katsyuba S, Elistratova J, Sinyashin O and Mustafina A
The present work explores the specificity of supramolecular assemblies comprising dialkylaminostyrylhetarene dye molecules incorporated into phosphatidylcholine (PC) or phosphatidylserine (PS) aggregates. In PS-based assemblies, the dyes demonstrate a concentration-dependent fluorescent response, distinguishing anionic proteins such as bovine serum albumin (BSA) and pepsin from lysozyme (LYZ) in aqueous solutions. Conversely, no significant response is observed when the dyes are incorporated into the well-organized bilayers of neutral PC. The fluorescent response arises from the binding of dyes to proteins, leading to the detachment of dye molecules from the assemblies, rather than from the binding of proteins to the assemblies, although the latter process is facilitated by electrostatic attraction. Thus, both the poor ordering of PS molecules and the interfacial arrangement of the dyes are prerequisites for the fluorescent response of dye-PS aggregates. The structure of the dyes significantly impacts the spectral features of dye-PS and dye-protein assemblies. An optimal dye structure has been identified for the recognition of BSA, with a limit of detection (LOD) of 10.8 nM.
An iPSC-derived small intestine-on-chip with self-organizing epithelial, mesenchymal, and neural cells
Moerkens R, Mooiweer J, Ramírez-Sánchez AD, Oelen R, Franke L, Wijmenga C, Barrett RJ, Jonkers IH and Withoff S
Human induced pluripotent stem cell (hiPSC)-derived intestinal organoids are valuable tools for researching developmental biology and personalized therapies, but their closed topology and relative immature state limit applications. Here, we use organ-on-chip technology to develop a hiPSC-derived intestinal barrier with apical and basolateral access in a more physiological in vitro microenvironment. To replicate growth factor gradients along the crypt-villus axis, we locally expose the cells to expansion and differentiation media. In these conditions, intestinal epithelial cells self-organize into villus-like folds with physiological barrier integrity, and myofibroblasts and neurons emerge and form a subepithelial tissue in the bottom channel. The growth factor gradients efficiently balance dividing and mature cell types and induce an intestinal epithelial composition, including absorptive and secretory lineages, resembling the composition of the human small intestine. This well-characterized hiPSC-derived intestine-on-chip system can facilitate personalized studies on physiological processes and therapy development in the human small intestine.
A history of stereotactic radiosurgery may predict failure of procedure following percutaneous glycerol rhizotomy for trigeminal neuralgia
Nair SK, Oh HJ, Kalluri A, Ejimogu NE, Al-Khars H, Abdulrahim M, Xia Y, Yedavalli V, Jackson CM, Huang J, Lim M, Bettegowda C and Xu R
Both stereotactic radiosurgery (SRS) and percutaneous glycerol rhizotomy are excellent options to treat TN in patients unable to proceed with microvascular decompression. However, the influence of prior SRS on pain outcomes following rhizotomy is not well understood.
A 20-year serological survey of Toxoplasma gondii and Neospora caninum infection in dogs with neuromuscular disorders from urban areas in Argentina
Gos ML, Venturini MC, De Felice L, Dellarupe A, Rambeaud M, Pardini L, Campero LM, Bernstein M, Bacigalupe D, Basso W, Moré G and Unzaga JM
Toxoplasma gondii and Neospora caninum infections may be associated with neuromuscular disorders in dogs. The aim of this study was to assess the seroprevalence to these protozoan parasites in dogs with neuromuscular disease from urban areas of Buenos Aires province, Argentina, over a period of 20 years, and to evaluate the association of seropositivity and antibody titres with different variables such as sex, breed and age. For this, a total of 7238 serum samples from urban owned dogs were analysed by the indirect fluorescence antibody test (IFAT) for specific IgG antibodies. The observed seropositivity rates were 35.7 % for T. gondii and 25.7 % for N. caninum. Crossbred dogs had a significantly higher seroprevalence for T. gondii than purebred dogs (41 % vs. 29.3 %), while a trend towards significance was observed for N. caninum, which was slightly higher in purebred dogs (26 % vs. 23.6 %). Seroprevalence for both parasites increased with age and was higher in older animals. Regarding the distribution of specific antibody titres, the most frequent IFAT T. gondii titre found was 100 and for N. caninum it was ≥800. For toxoplasmosis, there was no association with age group, and low titres (50, 100 and 200) predominated in all groups. However, for neosporosis, age and titres were significantly associated for one age group, with dogs under 12 months of age having a higher proportion of high titres (400 and 800). The trend in the seroprevalence for T. gondii is increasing over the years and lower antibody titres predominate in the dogs studied, which may be more related to the presence of chronic infections and not necessarily to the clinical signs of the animals. Despite the generally low titres observed for toxoplasmosis in this study, it is important to highlight the high seroprevalence found in our region, as dogs can act as sentinels of environmental contamination and as indicators of possible human infection. In the case of neosporosis, although the trend in seroprevalence in dogs with signs appears to be decreasing over the years, our work shows that higher antibody titres predominate, and are probably related to the clinical signs presented by the dogs. This study provides the most recent epidemiological data and serological profiles of T. gondii and N. caninum infections in a large number of canine sera from urban areas in Argentina, providing relevant information for clinical veterinarians and epidemiologists in order to understand the circulation of the parasites.
Comparison of endoscopic versus focused parathyroidectomy in surgical management of single-gland primary hyperparathyroidism: a randomized clinical trial
Meshkati Yazd SM, Shahriarirad R, Nayebi S, Dehghan P, Abbasi A, Maghsoodloo F, Hamedani K and Nasiri S
Over recent years, various advanced minimally invasive techniques have been developed for parathyroidectomy, and there was a universal acceptance of these less invasive procedures by surgeons. This study is designed to compare overall outcomes between endoscopic versus focused, single gland parathyroidectomy using intraoperative rapid parathyroid hormone (ioPTH) changes under general anesthesia in primary hyperparathyroidism (PHPT) patients.
Risk of agranulocytosis with metamizole in comparison with alternative medications based on health records in Spain
Maciá-Martínez MÁ, Castillo-Cano B, García-Poza P and Martín-Merino E
We aimed to estimate the absolute (incidence) and relative (hazard ratio; HR) risk of agranulocytosis associated with metamizole in comparison with non-steroidal antiinflammatory drugs (NSAIDs).
Ferumoxtran-10-enhanced MRI for pre-operative metastatic lymph node detection in pancreatic, duodenal, or periampullary adenocarcinoma
Litjens G, Nakamoto A, Brosens LAA, Maas MC, Scheenen TWJ, Zámecnik P, van Geenen EJM, Prokop M, van Laarhoven KJHM and Hermans JJ
To assess 3-Tesla (3-T) ultra-small superparamagnetic iron oxide (USPIO)-enhanced MRI in detecting lymph node (LN) metastases for resectable adenocarcinomas of the pancreas, duodenum, or periampullary region in a node-to-node validation against histopathology.
Quality of life outcomes for informal carers of long-term care service users in Austria, England and Finland
Linnosmaa I, Nguyen L, Jokimäki H, Saloniki EC, Malley J, Trukeschitz B, Hajji A and Forder J
The provision and funding of long-term care (LTC) for older people varies between European countries. Despite differences, there is limited information about the comparative performance of LTC systems in Europe. In this study, we compared quality of life (QoL) of informal carers of home care service users in Austria, England and Finland.
What Really Matters in the Implementation of Evidence-based Practices in Community Mental Health? Insight and Recommendations from Experts, Providers, and Clients
Mora Ringle VA, Calloway A, Reich D, Oziel R, Walzer A, O'Connor S, Venti A, Comeau C, Williams T and Creed TA
Perceptions of evidence-based practices (EBPs) and implementation are inherent drivers of implementation outcomes. Most studies on implementation perceptions have focused on direct service providers, but clients and EBP experts may offer additional meaningful information about implementing EBPs in community settings. EBP providers (n = 21), EBP experts (n = 12), and clients who received EBPs (n = 6) participated in focus groups to ascertain their perceptions of and experiences with EBP implementation, as part of a program evaluation. Thematic analysis indicated that provider and expert perceptions of EBP implementation in community settings converged around themes of implementation supports and training and client outcomes, along with several subthemes. Client perceptions centered on themes regarding the importance of their personal experiences, their impressions of EBPs, as well as their recommendation for increasing public awareness and use of EBPs. Findings suggest that the perspectives of EBP providers and experts are closely aligned, focusing on system-level, individual-level, and training issues that impact EBP implementation within a public mental health system. The themes that were important to clients were primarily related to their experiences as recipients of an EBP which produced insightful recommendations for promoting EBPs in the community.
The Impact of Childhood Adversity on Life Course Alcohol Use Patterns and Health Status Among People Living with HIV
Gasik RE, Madkour AS, Skeen SJ, Clum G, Francis T, Felker-Kantor E, Ferguson T, Welsh DA, Molina PE and Theall KP
Adverse childhood experiences (ACEs) and financial hardship are associated with increased likelihood of heavier alcohol use and health challenges in adulthood among persons living with HIV (PWH). We examined whether retrospectively captured lifetime drinking trajectories are a pathway through which childhood hardships affect current health in a sample of 365 adult PWH. Childhood economic hardship and ACEs were used as main predictors. Measures of alcohol use included age at first drink and lifetime drinking trajectories. Health indicators included health-related quality of life, frailty, number of comorbidities, and symptoms of anxiety, depression, and post-traumatic stress disorder (PTSD). Structural equation modeling (SEM) was applied to estimate both direct and indirect pathways between childhood hardship and physical and mental health. Participants were mostly male; Black (84%); and averaged 48 years of age. SEM results supported both direct and indirect pathways between childhood experiences and adult health. ACEs were connected to physical health directly and mental health both directly and indirectly through age at first drink and drinking heaviness during ages 10-20. Childhood economic hardship related to mental health indirectly through higher drinking levels during ages 10-20. Childhood adverse experiences, economic hardship, and early drinking patterns appear to accumulate, resulting in later life physical and mental health concerns for PWH. Findings support taking a life course approach to health. This includes considering individual trauma histories in HIV care engagement and taking preventative approaches which support the economic and social well-being of vulnerable children to improve health in subsequent decades.
Dura mater and survival time determination in individuals who died after traumatic brain injury: a preliminary study
Benevento M, d'Amati A, Nicolì S, Ambrosi L, Baj J, Ferorelli D, Ingravallo G and Solarino B
Traumatic brain injury (TBI) is one of the major causes of morbidity and mortality among young people and is a matter of concern for forensic pathologists. Many authors have tried to estimate a person's survival time (ST) after TBI using different approaches.
Identification of weight loss interventions for translation among endometrial cancer survivors: A RE-AIM analysis
Harden SM, Brow K, Zoellner J and Armbruster SD
Interventions for obesity-related cancers that combine nutrition and physical activity for weight loss exist; however, their application to survivors of endometrial cancer is unknown. Furthermore, little is known about pre-implementation perceptions of existing programs from a variety of interested persons (physicians, researchers) who may be part of the implementation team. Adapting an existing intervention rather than developing a new intervention may speed the translational lag time as long as intervention characteristics and fit within the delivery system are considered during the planning phase. To describe the process of determining the core elements of obesity-related interventions for cancer survivors and determine which one might be best delivered by an urban healthcare system that predominantly serves individuals who live in rural areas of Virginia and West Virginia. A pragmatic review of the literature was conducted via PubMed and Google Scholar with broad search terms of cancer survivor AND weight loss AND health intervention. Identified interventions were scored related to the Practical, Robust Implementation and Sustainability Model-which is an extension of RE-AIM framework to guide the understanding of who, what, where, when, and how the intervention was conducted. Intervention characteristics are reported. In addition, ratings from three independent reviewers on the validated 5-point Likert scale of an intervention's acceptability, appropriateness, and feasibility in the intended delivery system were collected and summarized. Twelve interventions were identified with an average sample size of 241(±195) and a range of 48-683 participants. Target populations included survivors of colorectal, breast, and endometrial cancers as well as general cancer survivors and included both men and women or only women. Most participants (74%) identified as white/Caucasian and average age ranged from 47.1 to 65.9 years. Program duration ranged from 4 weeks to 18 months, with an average duration of 32 weeks. Intervention dosage ranged from three times a week to once a month. Intervention acceptability, appropriateness, and feasibility had average and standard deviation ratings of 3.52(±0.46), 3.41(±0.45), and 3.21(±0.46), respectively, out of 5. The four interventions with the highest combined acceptable, appropriate, and feasible scores are being considered for potential use as an obesity-related intervention for survivors of endometrial cancer. Future work is needed to determine relevant adaptations and efficacy among survivors of endometrial cancer with obesity. Our approach may be beneficial for other interventionists aiming to speed intervention development and implementation.
Topography of mutational signatures in non-small cell lung cancer: emerging concepts, clinical applications, and limitations
Jayakrishnan R, Kwiatkowski DJ, Rose MG and Nassar AH
The genome of a cell is continuously battered by a plethora of exogenous and endogenous processes that can lead to damaged DNA. Repair mechanisms correct this damage most of the time, but failure to do so leaves mutations. Mutations do not occur in random manner, but rather typically follow a more or less specific pattern due to known or imputed mutational processes. Mutational signature analysis is the process by which the predominant mutational process can be inferred for a cancer and can be used in several contexts to study both the genesis of cancer and its response to therapy. Recent pan-cancer genomic efforts such as "The Cancer Genome Atlas" have identified numerous mutational signatures that can be categorized into single base substitutions, doublet base substitutions, or small insertions/deletions. Understanding these mutational signatures as they occur in non-small lung cancer could improve efforts at prevention, predict treatment response to personalized treatments, and guide the development of therapies targeting tumor evolution. For non-small cell lung cancer, several mutational signatures have been identified that correlate with exposures such as tobacco smoking and radon and can also reflect endogenous processes such as aging, APOBEC activity, and loss of mismatch repair. Herein, we provide an overview of the current knowledge of mutational signatures in non-small lung cancer.
The cost of providing care by family and friends (informal care) in the last year of life: A population observational study
Johnson MJ, Currow DC, Chynoweth J, Weatherly H, Keser G, Hutchinson A, Jones A, Dunn L and Allgar V
Little is known about replacement costs of care provided by informal carers during the last year of life for people dying of cancer and non-cancer diseases.
Supporting Bereaved Family Members: A Qualitative Interview Study on the Experience of Bereavement Counselling by the Bereavement Network Lower Saxony (BNLS) in Germany for Parents Who Have Lost Children or Teenagers
Kruse RF, Stiel S and Schwabe S
The "Trauer Netzwerk Niedersachsen" ("Bereavement Network Lower Saxony" (BNLS)) aims at supporting families after the loss of a child or teenager due to various causes. This study aims to describe the experiences of bereaved family members with the BNLS counsellors. 12 semi-structured interviews were conducted with parents who had received or were currently receiving BNLS counselling. The interviews revealed the vital role counselling played aiding individuals cope with their grief. Participants valued the bereavement support, which was often lacking in their personal support networks. Counselling assisted parents in returning to daily life and caring for loved ones. Discussing "death" and "dying" helped participants find peace with their loss. Our findings suggest that bereavement counselling should be considered an essential component of healthcare for family members dealing with the loss of a child. Additionally, there is need for awareness and publicity for both the BNLS and its bereavement counselling services.
Novel Psychoactive Substance Use and Psychological Trauma: A Multimethodological Analysis
Csaszar F, B Erdos M, Ellis R, Kelemen G and Javor R
Authors discuss the connections between novel psychoactive substance (NPS) use and psychological trauma. The transition from classical substances to NPS, a paradigm change, poses a challenge for the treatment systems. Research evidence suggests difficulties in emotion regulation and trauma-related NPS-use. Authors explore some demographic and psychopathological characteristics related to such findings and examine the connections between emotion regulation deficiency and the choice of substance.
Near real-time patient experience feedback with data relay to providers: a systematic review of its effectiveness
Jesus TS, Struhar J, Zhang M, Lee D, Stern BZ, Heinemann AW, Jordan N and Deutsch A
Near Real-Time Feedback (NRTF) on the patient's experience with care, coupled with data relay to providers, can inform quality-of-care improvements, including at the point of care. The objective is to systematically review contemporary literature on the impact of the use of NRTF and data relay to providers on standardized patient experience measures. Six scientific databases and five specialty journals were searched supplemented by snowballing search strategies, according to the registered study protocol. Eligibility included studies in English (2015-2023) assessing the impact of NRTF and data relay on standardized patient-reported experience measures as a primary outcome. Eligibility and quality appraisals were performed by two independent reviewers. An expert former patient (Patient and Family Advisory Council and communication sciences background) helped interpret the results. Eight papers met review eligibility criteria, including three randomized controlled trials (RCTs) and one non-randomized study. Three of these studies involved in-person NRTF prior to data relay (patient-level data for immediate corrective action or aggregated and peer-compared) and led to significantly better results in all or some of the experience measures. In turn, a kiosk-based NRTF achieved no better experience results. The remaining studies were pre-post designs with mixed or neutral results and greater risks of bias. In-person NRTF on the patient experience followed by rapid data relay to their providers, either patient-level or provider-level as peer-compared, can improve the patient experience of care. Reviewed kiosk-based or self-reported approaches combined with data relay were not effective. Further research should determine which approach (e.g. who conducts the in-person NRTF) will provide better, more efficient improvements and under which circumstances.
Feasibility of telerehabilitation to address the orientation and mobility needs of individuals with visual impairment: perspectives of current guide dog users
Ogedengbe TO, Kreidy C, Gürke N, Twahirwa BN, Boateng MA, Eslahi M, Khodayari F, Nemargut JP, Martiniello N and Wittich W
To assess guide dog users' perspectives on the feasibility of telerehabilitation for their O&M needs.
Knowledge, perceptions, and practices of axial spondyloarthritis diagnosis and management among healthcare professionals: an online cross-sectional survey
Zimba O, Kocyigit BF, Kadam E, Haugeberg G, Grazio S, Guła Z, Strach M and Korkosz M
Spondyloarthritis (SpA) is a group of inflammatory disorders, including axial SpA (axSpA), characterized by inflammation in the spine and sacroiliac joints. Healthcare professionals have a crucial role in diagnosing and managing axSpA. Assessing their knowledge, perceptions, and practices is essential to enhance patient care. The objective of this study is to evaluate these factors by conducting an online survey. This online survey was performed using SurveyMonkey.com to assess healthcare professionals' knowledge, perceptions, and practices related to axSpA diagnosis, management, and monitoring. The questionnaire included questions about definitions, management strategies, monitoring approaches, treatment options, and barriers to care. Convenience sampling was used, and the data were analyzed descriptively by Microsoft Excel. One hundred sixty-four healthcare professionals participated; most respondents were rheumatologists from various geographic locations (27 countries). Most participants were familiar with axSpA definitions and diagnostic criteria, demonstrating high expertise. Variations were seen in follow-up intervals and diagnostic preferences, reflecting clinical heterogeneity. Seventy-two (43.9%) individuals had a multidisciplinary team, frequently including rheumatologists, physiotherapists, and radiologists. Of the participants, 73 (44.5%) had online/telephone follow-up sessions. The pharmacological and non-pharmacological treatment approaches varied, pointing to the importance of personalized care. Glucocorticoid use varied among countries. Recognizing inflammatory back pain, interpreting radiographs, and diagnosing early was essential to medical education. This study provides beneficial data on healthcare professionals' knowledge, perceptions, and practices regarding axSpA. While diagnostic familiarity and multidisciplinary approach are positives, there is a potential to standardize management, improve telemedicine services, remove barriers to physical activity, and optimize treatment options.
Prevalence and Severity of Central Sensitization in Post-Polio Syndrome: Associations with Clinical Measures and Quality of Life
On AY, Latifoglou E, Çınar E and Tanıgör G
To investigate the presence and severity of central sensitization (CS) and its associations with clinical measures and quality of life (QoL) in individuals with a history of paralytic poliomyelitis with and without post-polio syndrome (PPS).
Living with axial spondyloarthritis: a cross-sectional survey of patient knowledge and perceptions
Zimba O, Guła Z, Strach M and Korkosz M
Diagnosis and effective treatment of axial spondyloarthritis (AxSpA) are often delayed due to inadequate awareness and poor patient-physician communication. Some AxSpA patients fail to maintain an active lifestyle by exercising regularly, further worsening their disease management. The evolving concept of patient-centred care necessitates better understanding of patient awareness and their needs. We aimed to survey AxSpA patients to reflect on healthcare planning and management perspectives. Our self-administered questionnaire focused on perceptions of AxSpA diagnosis and management, particularly exploring issues of physical activity and active lifestyle. Satisfaction with AxSpA medical care and its accessibility, diagnostic delays, patient-physician communication, and support for disease management were also explored. This offline survey was arranged at the Department of Rheumatology, Immunology, and Internal Medicine of Jagiellonian University Medical College and Krakow University Hospital. We surveyed patients with AxSpA attending outpatient clinics between December 1st, 2023 and April 22nd, 2024. The questionnaire included questions on types of physical activities, barriers to exercising, satisfaction with medical care, patient-physician interactions, diagnostic delays, and use of teleconsultations. A total of 117 patients with AxSpA were enrolled (mean age 41.62 years). The majority (n = 93, 79.5%) were employed. There was a male predominance (69, 59%). The average diagnostic delay was 5.5 years. Notably, 104 (88.9%) responders perceived physical activity as a factor influencing their disease course. However, only 32 (27.35%) managed to exercise regularly (≥ 30 min, 2-3 times a week). The majority (70, 59.83%) were irregularly engaged in some form of physical activity, with 15 (12.8%) not exercising at all, and nearly half (48%) reported at least one barrier to maintaining a physically active lifestyle. Pain (32, 27.35%), fatigue (27, 23.08%), lack of motivation (17, 14.53%), and lack of time (12, 10.26%) were noted as barriers to exercising. The respondents preferred to exercise at home. The survey identified critical areas where patient dissatisfaction or uncertainty were notably prevalent: 38 (32.5%) were uncertain and 35 (30%) were dissatisfied with rehabilitation access. For spa therapy, 63 (53.85%) reported uncertainty and 23 (19.7%) expressed dissatisfaction. Only 48 (41%) were treated by a rehabilitation specialist last year. Only 23% of AxSpA patients took part in teleconsultations last year, and 65% preferred in-person visits. While AxSpA patients recognize the importance of physical activity, significant barriers exist to engaging them regularly in exercising. Addressing these barriers through personalized, motivational, and educational strategies could improve patient outcomes. Improving patient satisfaction with healthcare services, particularly in areas of rehabilitation and physician-patient communication, is crucial for improving the overall care of AxSpA patients.
Detecting and Predicting Cognitive Decline in Individuals with Traumatic Brain Injury: A Longitudinal Telephone-Based Study
Del Pozzo J, Spielman LA, Yew B, Shpigel D, Selmanovic E and Dams-O'Connor K
Traumatic brain injuries (TBIs) can lead to long-lasting cognitive impairments, and some survivors experience cognitive decline post-recovery. Early detection of decline is important for care planning, and understanding risk factors for decline can elucidate targets for prevention. While neuropsychological testing is the gold standard approach to characterizing cognitive function, there is a need for brief, scalable tools that are capable of detecting clinically significant changes in post-TBI cognition. This study examines whether clinically significant change can be detected using the Brief Test of Adult Cognition by Telephone (BTACT) in a sample of individuals with chronic TBI and investigates whether potentially modifiable factors are associated with cognitive decline. Ninety participants aged 40 or older with complicated mild to severe TBI participated in two telephone-based study visits approximately one year apart. Demographic, head trauma exposure, comorbid medical conditions, physical and psychosocial functioning data were collected via self-report. The BTACT, a brief measure of global cognitive function, was used to assess cognitive performance across six domains. A Reliable Change Index (RCI) for quantifying clinically significant changes in BTACT performance was calculated. Results revealed cognitive decline in 10% to 27% of participants across various cognitive domains. More specifically, only depressive symptoms, including depressed affect and anhedonia, were significantly associated with cognitive decline after correcting for multiple comparisons using FDR. Other factors such as the number of blows to the head, male gender, dyspnea, increased anxiety symptoms, seizures, illicit drug use, and fewer cardiovascular comorbidities should be considered hypothesis-generating. Importantly, age was not a significant predictor of cognitive decline, which challenges the assumption that cognitive decline is solely related to the natural aging process. It suggests that there are unique factors associated with TBI that impact cognitive function, and these factors can affect individuals across the lifespan. The BTACT is a brief and sensitive tool for identifying clinically meaningful changes in cognitive function over a relatively brief period (i.e., one year) in a sample of individuals in the chronic stages of TBI (i.e., x̅=6.7 years post-TBI). Thus, the BTACT may be useful in surveillance efforts aimed at understanding and detecting decline, particularly in situations where in-person cognitive screening is impractical or unfeasible. We also identified potentially modifiable targets for the prevention of post-TBI cognitive decline. These findings can offer insights into treatment goals and preventive strategies for individuals at risk for cognitive decline, as well as help to facilitate early identification efforts.
Isolation, characterization and whole-genome analysis of G9 group a rotaviruses in China: Evidence for possible Porcine-Human interspecies transmission
Ghonaim AH, Yi G, Lei M, Xie D, Ma H, Yang Z, Usama U, Wu H, Jiang Y, Li W and He Q
Group A rotaviruses (RVAs) are major causes of severe gastroenteritis in infants and young animals. To enhance our understanding of the relationship between human and animals RVAs, complete genome data are necessary. We screened 92 intestinal and stool samples from diarrheic piglets by RT‒PCR targeting the VP6 gene, revealing a prevalence of 10.9%. RVA was confirmed in two out of 5 calf samples. We successfully isolated two porcine samples using MA104 cell line. The full-length genetic constellation of the two isolates were determined to be G9-P[23]-I5-R1-C1-M1-A8-N1-T7-E1-H1, with close similarity to human Wa-like and porcine strains. Sequence analysis revealed the majority of genes were closely related to porcine and human RVAs. Phylogenetic analysis revealed that these isolates might have their ancestral origin from pigs, although some of their gene segments were related to human strains. This study reveals evidence of reassortment and possible interspecies transmission between pigs and humans in China.
The meaning of autistic movements
Petty S and Ellis A
Moving the body in 'stereotyped', 'repetitive', 'ritualised' or 'unusual' ways is part of the criteria for receiving a diagnosis of autism. However, the reasons for these movements and their personal value are not well understood. Certain ways of moving have become part of a disorder, and have received negative judgements, whereas other movements have not.We searched online blogs for descriptions of movement written by autistic adults, using their preferred language and definitions. The blog authors said that many types of movement attracted negative judgement, including mis-coordination shown during sports, dancing in unusual places or moving repetitively, such as when stimming. However, movement provided personal benefits, and could enhance thinking and focus, provide meaningful routine, contribute to sensory regulation, release energy, increase body awareness, emotion regulation and strengthen self-identity.Movement could be a well-being resource, used to reduce distraction, overwhelm, confusion and distress for autistic people. This should be considered within personal coping strategies and psychological therapies. The examples provided in this study could inform autism assessments, to ensure that the meanings of movements are considered alongside the appearances of movement. Some movements such as stimming have the same functions as many other ways of moving, including dancing and exercising, which could help to reduce stigma around being autistic if reflected in policy and practice. Improving understanding is important for informing how autism is assessed, and how personal experiences of being autistic are heard.
Prognostic factors for intravitreal conbercept in the treatment of choroidal neovascularization secondary to pathological myopia
Wang D, Wu K, Li X, Chen L and Huang W
To identify risk factors influencing visual outcomes in patients with pathological myopia-associated choroidal neovascularization (PM-CNV) following intravitreal injections of conbercept.
Identification of a novel MEF2C::SS18L1 fusion in childhood acute B-lymphoblastic leukemia
Chen C, Wang J, Kang M, Wu P, Zhu L, Fang Y and Xue Y
Leukemia-associated fusion genes are closely related to the occurrence, development, diagnosis, and treatment of leukemia. DNA microarrays and second-generation sequencing have discovered multiple B-ALL fusion genes. We identified a novel MEF2C::SS18L1 fusion gene in a child diagnosed with B-ALL. This study investigates the oncogenicity and prognosis of this fusion gene in B-ALL.
A longitudinal study of within-person trajectories in quality of life in patients receiving early palliative care
O'Connor BP and Pesut B
To reveal the within-person trajectories in quality of life (QOL) in patients receiving early palliative care. Previous studies have mostly focused aggregated trajectories, based on all research participants combined, whereas this study focused on within-person trajectories in QOL and on whether the variability in QOL trajectories across patients is substantial enough to raise doubts about aggregated trajectories.
Long non-coding RNAs in ferroptosis and cuproptosis impact on prognosis and treatment in hepatocellular carcinoma
Wang K, Yang C, Xie J, Zhang X, Wei T and Yan Z
Ferroptosis and cuproptosis are recently discovered forms of cell death that have gained interest as potential cancer treatments, particularly for hepatocellular carcinoma. Long non-coding RNAs (lncRNAs) influence cancer cell activity by interacting with various nucleic acids and proteins. However, the role of ferroptosis and cuproptosis-related lncRNAs (FCRLs) in cancer remains underexplored. Ferroptosis and cuproptosis scores for each sample were assessed using Gene Set Variation Analysis (GSVA). Weighted correlation network analysis identified the FCRLs most relevant to our study. A risk model based on FCRLs was developed to categorize patients into high-risk and low-risk groups. We then compared overall survival (OS), tumor immune microenvironment, and clinical characteristics between these groups. The IPS score and ImmuCellAI webpage were used to predict the association between FCRL-related signatures and immunotherapy response. Finally, we validated the accuracy of FCRLs in hepatocellular carcinoma cell lines using induction agents (elesclomol and erastin). Patients in different risk subgroups showed significant differences in OS, immune cell infiltration, pathway activity, and clinical characteristics. Cellular assays revealed significant changes in the expression of AC019080.5, AC145207.5, MIR210HG, and LINC01063 in HCC cell lines following the addition of ferroptosis and cuproptosis inducers. We created a signature of four FCRLs that accurately predicted survival in HCC patients, laid the foundation for basic research related to ferroptosis and cuproptosis in hepatocellular carcinoma, and provided therapeutic recommendations for HCC patients.
Rapid tests should be used with caution for HIV-1 primary infection screening
Guiraud V, Beaulieu Q, Fauchois A, Jean-Charles P, Costes MC, Labousse BL and Gautheret-Dejean PA
Rapid tests allow outpatient, low cost, reliable, screening for chronic HIV infection. However, data regarding their sensitivity on primary infection remain scarce. The objective of this study was to assess sensitivity of nine HIV rapid tests for primary HIV-1 infection screening. Seventy-five serum samples from patients during HIV-1 primary infection were included. Primary infection was diagnosed by a positive 4th generation ELISA and HIV-1 RNA positivity confirmed by Western blot patterns associated with HIV-1 primary infection. Early seroconversion was defined as the absence of antibodies on HIV-1 Western blot associated with HIV-1 RNA and p24-antigen positivity. An identical sensitivity (95% CI) of 76.7% (65.2-84.2%) was observed for HIV 1/2 STAT-PAK Assay (STAT-PAK), INSTI™ HIV-1/HIV-2 antibody Test (INSTI), SURE CHECK HIV 1/2 (SURE CHECK) and MULTISURE HIV rapid test (MULTISURE) with visual reading. Sensitivity was 74.7% (63.8-83.1%) for MULTISURE (automatic reading), 77.0% (66.3-85.1%) for FIRST RESPONSE Test VIH 1-2.O CARTE (FIRST RESPONSE), 83.8% (73.8-90.5%) for VIKIA HIV1/2 (VIKIA), 88.0% (78.7-93.6%) for Genie™ Fast HIV 1/2 (Genie Fast), 88.6% (79.0-94.1%) for Hexagon HIV (Hexagon), and 92.8% (83.6-96.3%) for Exacto TEST HIV Pro (Exacto). However, rapid tests performed poorly for the early seroconversion subgroup (n = 14), with sensitivities ranging from 7% (1.3-31.5%) for STAT-PAK, INSTI, SURE CHECK, MULTISURE (automatic reading), to 29% (12-55%) for FIRST RESPONSE, 31% (13-58%) for VIKIA, 43% (21-67%) for Hexagon and 57.1% (32.6-78.6%) for Exacto and Genie Fast. Overall, despite significant discrepancies in sensitivity, HIV rapid tests should be used with caution in the context of a suspected primary infection.
Efficacy of topical 5-Fluorouracil in the management of ocular surface squamous neoplasia: a study of 101 eyes
Bakal K, Molugu S, Machakuri K, Bejjanki KM, Kapoor AG and Kaliki S
To study the efficacy and side-effect profile of topical 5-Fluorouracil (5-FU) in the treatment of ocular surface squamous neoplasia (OSSN).
Epithelial thickness map-adjusted transepithelial photorefractive keratectomy for treatment of myopic astigmatism: 12-month results
Niknam S, Niknam J, Salouti R and Nowroozzadeh MH
To evaluate the refractive results of Transepithelial Photorefractive Keratectomy (t-PRK) with the Technolas Teneo2 Excimer laser platform.
What Should Personalised Mental Health Support Involve? Views of Young People with Lived Experience and Professionals from Eight Countries
Sheikh A, Jacob J, Vostanis P, Ruby F, Spuerck I, Stankovic M, Morgan N, Mota CP, Ferreira R, Eruyar Ş, Yılmaz EA, Fatima SZ and Edbrooke-Childs J
Research demonstrates that young people value mental health support that is tailored to their needs and preferences, rather than a "one size fits all" offer, which is often not equitably accessible (National Children's Bureau, 2021). Understanding young people's lived experiences across different sociocultural contexts is important. The aim of this research was to conduct an international qualitative study on the views of young people with lived experience and professionals, on proposed aspects of personalised support for anxiety and/or depression. Participatory action focus groups were conducted with N = 120 young people with lived experience of anxiety and/or depression (14-24 years) and with N = 63 professionals in Brazil, India, Kenya, Pakistan, Portugal, South Africa, Turkey, and the United Kingdom. Data were analysed using the rigorous and accelerated data reduction (RADaR) technique. Overall, although some country-specific differences were found in terms of what aspects of support young people found to be most important, individual preferences were considered stronger, furthering the view that support should be personalised to the needs of the individual young person. Young people experiencing anxiety and/or depression should be able to choose for themselves which aspects of support they would prefer in their own care and support plans, with families and mental health professionals providing guidance where appropriate, rather than removing the young person from the decision-making process altogether. It should also be ensured that the aspects of personalised support can be understood by young people and professionals from different contexts, including marginalised and minoritised groups and communities.
Correlation between super-high magnification (400x) dermoscopy and reflectance confocal microscopy for the diagnosis of melanosis and other pigmented genital lesions
Ravni E, Skowron F, David C, Cortez CD, Lima S, Tognetti L, Chazelle M, Habougit C, Vercherin P, Perrot M, Rubegni P, Cinotti E and Perrot JL
The clinical diagnosis of pigmented genital lesions is challenging. Reflectance confocal microscopy (RCM) is effective for diagnosis but is limited in its application due to elevated costs. A more affordable dermatoscope with a 400x magnification (D400) has recently been brought to market. The aim of our study was to compare these two imaging techniques for the analysis of pigmented genital tumours. An observational, prospective and mono-centric study was carried out from October 2017 to May 2019, in which clinical, dermatoscopic (20x and 400x) and RCM data from 207 pigmented genital lesions were collected. The images generated via D400 and RCM were analysed by three expert investigators. Similarities between the criteria observed using D400 and RCM were evaluated by each investigator. In total, 207 lesions were included: 183 melanosis, 19 nevi, one basal cell carcinoma (BCC), two condylomas and two melanomas in situ. Our series correlates well with data found in the literature especially for the distribution of different lesions, their topography, and their aspect using x20 dermatoscopy and RCM. Pattern and cell criteria defined using RCM largely paralleled those observed with D400 for all three investigators. Correlation between D400 and RCM was moderate to strong with regards to the identification of the ring pattern and clustered round cells, strong for dendritic and plump cells, and perfect for isolated round cells and spindle cells. D400 is an easy-to-use, cost-effective alternative for the analysis of pigmented genital lesions, particularly for melanosis.
Reflectance confocal microscopy for the early diagnosis of herpes zoster
Fu C, Tang Z, Jiang L, Chen J, Tong X and Lei L
For herpes zoster (HZ) infection, early diagnosis and treatment are important in order to shorten the course of the disease and reduce sequelae, however, there is a lack of non-invasive diagnostic methods. Reflectance confocal microscopy (RCM) is a non-invasive technique often used to diagnose dyspigmented dermatosis, skin tumours, human papillomavirus infectious dermatosis, etc. To evaluate the clinical value of RCM for the early diagnosis of HZ. We collected RCM images from 30 HZ patients with typical vesicles in order to analyse their features. We then utilized RCM to analyse early lesions of another 12 HZ patients, who presented with localized erythema or papules, but not typical vesicles. In addition, we recruited one patient with HZ and observed the lesions over 14 days also using RCM. RCM images showed that the typical lesions of HZ mainly involved oedema of the spinous layer, intraepidermal blister formation, ballooning multinucleated giant (BMG) cells, and dermal papillary oedema. Among them, BMG cells were of specific diagnostic value. Early lesions of HZ patients without typical vesicles showed BMG cells under RCM. A few BMG cells were observed during the early stage of HZ. However, the number of BMG cells increased significantly as typical clustered blisters gradually appeared in the lesions. With the regression of the lesions, the number of BMG cells decreased gradually. RCM, with the advantages of being non-invasive, rapid, and convenient, has an important role in monitoring the evolution of HZ.
Hydroa vacciniforme lymphoproliferative disorder: a retrospective study of 42 paediatric cases
Zhang Y, Liu Y, Xu J, Liang Y and Xu Z
Hydroa vacciniforme lymphoproliferative disorder (HVLPD) is a rare disease related to Epstein-Barr virus (EBV), mainly in children, and is an EBV-associated cutaneous T and natural killer (NK) cell lymphoproliferative disorder. The disorder in some patients may progress to EBV-associated systemic T or NK-cell lymphoma. To summarize the characteristics of HVLPD in Chinese paediatric patients and to examine the risk factors indicating poor prognosis. We performed a retrospective analysis of patients with HVLPD from the Department of Dermatology, Beijing Children's Hospital. Based on diagnosis, medical history, examination results, and immunophenotype, we analysed HVLPD in 42 paediatric cases in order to examine the clinical features, prognoses, and risk factors. Forty-two paediatric patients were enrolled, with a median onset age of five years. All patients presented with papulovesicular lesions, and 32 systemic HVLPD (sHVLPD) patients had systemic symptoms, including fever, lymphadenopathy, hepatomegaly, splenomegaly, and liver dysfunction. Of the sHVLPD cases, 13 also had severe mosquito bite allergy (SMBA). Twenty-five cases were T-type, and nine were CD56+-dominant type. Follow-up data showed that 12 patients had complete remission, and three patients died. SMBA is a risk factor for disease progression in patients with HVLPD, and the pathological CD56+-dominant phenotype is associated with poor prognosis.
Risk of vitiligo in patients with SARS-CoV-2 vaccination or infection: a nationwide cohort study
Kim JS, Jeong CY, Lee GJ, Yeom SW and Nam KH
As recent sporadic case reports of newly developed vitiligo after SARS-CoV-2 infection or vaccination have been -published, a convincing large-scale study addressing this association is warranted. To investigate the association between SARS-CoV-2 infection or vaccination and vitiligo using the Korean National Health Insurance Service database. SARS-CoV-2-positive patients and those vaccinated against SARS-CoV-2 were recruited. In studies 1 and 2, control groups were selected based on 1:1 propensity score matching with vaccinated and SARS-CoV-2-positive patients, respectively. The occurrence of vitiligo was the main outcome. Each individual was monitored for six months. The hazard ratio (HR) for vitiligo was calculated using the Cox proportional hazards model. In study 1, the incidence of vitiligo in the vaccination group was 2.22-fold higher than that in the non-vaccination group (adjusted HR [aHR]: 2.22; 95% confidence interval [CI]: 1.54-3.19). Rheumatoid arthritis was a risk factor for vitiligo (aHR: 1.99; 95% CI: 1.12-3.54). Conversely, two factors associated with decreased incidence of vitiligo were male sex (aHR: 0.58; 95% CI: 0.40-0.82) and rural residency (aHR: 0.68; 95% CI: 0.49-0.96). In study 2, the incidence of newly-diagnosed vitiligo was not significantly different between SARS-CoV-2-positive patients and uninfected controls (aHR: 0.95; 95% CI: 0.51-1.78). SARS-CoV-2 vaccination may increase the risk of developing vitiligo in South Korea, although additional studies in other countries or with extended periods are needed. Clinicians should be aware of the impact of SARS-CoV-2 infection and vaccination on autoimmune skin diseases, including vitiligo.
The efficacy of ixekizumab treatment in Chinese psoriasis patients: a short-term retrospective study
Yao X, Yuan J, Zhang Y and Li Y
Ixekizumab is a monoclonal antibody targeting interleukin-17A that has shown significant improvement in alleviating psoriasis. However, data is sparse on the efficacy of ixekizumab in psoriasis patients in China. To investigate the efficacy of ixekizumab in Chinese psoriasis patients. Patients with moderate-to-severe psoriasis were retrospectively investigated from April 2020 to October 2020. A total of 16 patients were treated with 80 mg ixekizumab every two weeks after a 160-mg loading dose. Efficacy was assessed using the Psoriasis Activity and Severity Index (PASI), static Physician's Global Assessment (sPGA) and Dermatology Life Quality Index (DLQI) at Weeks 0, 1, 2, 3, 4, 8, and 12. All patients showed excellent response to the treatment. Compared to baseline level, the improvement was significant and statistically significant at Week 1, 2, 4, 8 and 12 (p<0.05). Of the patients, 18.75% reported sPGA 0/1 (clear or almost clear skin) as early as Week 2, and the percentage of patients who reported sPGA 0/1 reached 100% at Week 12. Moreover, the DLQI decreased gradually coinciding with improvement in PASI and sPGA. The head/neck regions showed the fastest improvements, followed by the trunk and the arms/legs. During the 12-week period, no serious adverse effects occurred. Our results indicate that the treatment of ixekizumab was safe and effective in psoriasis patients in China.
Epidemiological, clinical and economic burden of alopecia areata in Spain: a real-world retrospective study. The PETALO study
Vañó-Galván S, Figueras-Nart I, Artime E, Díaz-Cerezo S, Núñez M, Iglesias C, Artés M and Huete T
Alopecia areata (AA) is a chronic autoimmune disease that causes non-scarring hair loss. Data are lacking on the epidemiology and clinical and economic burden of AA in Spain. To estimate the prevalence and incidence of AA in Spain and describe sociodemographic and clinical characteristics, treatment patterns, healthcare resource utilization (HCRU) and associated costs. This was an observational, retrospective, descriptive study based on the Health Improvement Network (THIN®) database (Cegedim Health Data, Spain). Patients with ICD9-Code 704.01 for AA, registered between 2014 and 2021, were identified. Prevalence (%) and incidence rates per 1,000 patient-years (IR) of AA were calculated and clinical characteristics, treatment characteristics and HCRU/costs were assessed. A total of 5,488 patients with AA were identified. The point prevalence of AA in 2021 was 0.44 (95% confidence interval [CI]: 0.43-0.45) overall, 0.48 (0.47-0.49) in adults, and 0.23 (0.21-0.26) in children ≤12 years. The 2021 IR for AA in adults was 0.55 (0.51-0.60). Of 3,351 adults with AA, 53.4% were female, mean (standard deviation [SD]) age was 43.1 (14.7) years, and 41.6% experienced comorbidities. Among adults, 2.7% used systemic treatment (0.5% immunosuppressants, 2.5% oral corticosteroids, 0.3% both). Laboratory tests and health care professional visits were the principal drivers of cost, which was €821.2 (1065.6)/patient in the first year after diagnosis. The epidemiology of AA in Spain is comparable with that reported for other countries, being more prevalent among adults. There is a significant burden of comorbidities and cost for patients, with limited use of systemic treatments, suggesting an unmet treatment need in this population.
Genetic overlap between psoriatic arthritis and ankylosing spondylitis in a Chinese population
Wang N, Guo X, Wang ZZ, Yu GQ, Zhao Q, Yang Q, Liu H and Zhang FR
Previous studies reveal that psoriatic arthritis (PsA) and ankylosing spondylitis (AS) share susceptibility genes, such as HLA-B27, demonstrating a degree of genetic overlap between these diseases. Recent studies have identified a number of novel AS and PsA genetic susceptibility loci, but data on these loci in Chinese PsA patients are limited. To identify candidate genes that confer susceptibility to PsA in Chinese patients with PsA, psoriasis vulgaris (PsV), and healthy controls. Sixteen susceptibility loci, reported in a genome-wide association study of AS, and nine susceptibility loci, reported in candidate gene studies of PsA, were examined. Single-nucleotide polymorphisms (SNPs) were genotyped in 503 patients with PsA, 496 patients with PsV, and 979 healthy controls using the SNPscanTM multiplex SNP genotyping platform. PLINK software and logistic regression analysis were used to estimate the statistical significance of associations. PPP2R3C (rs8006884) was shown to significantly associate with PsA+PsV (p = 1.92×10-3, OR = 1.28) and was suggested to associate with PsV (p = 0.03, OR = 1.19). A suggestive association was also observed between IL-23R (rs12141575) and PsA as well as with axial PsA based on subtype analysis, KIF3A (rs2897442) and PsV, and ERN1 (rs196941) or IFIH1 (rs984971) and axial PsA. Our results suggest that PPP2R3C confers susceptibility to PsA and PsV, and that this gene may be related to the pathogenesis of psoriatic lesions and arthritis. Moreover, our results indicate a possible association between IL-23R, ERN1, or IFIH1 and subtypes of PsA, and between KIF3A and PsV.
Genetic intratumour heterogeneity and clonal evolution in extramammary Paget's disease
Tanaka K, Kajihara I, Shimokawa K, Nakamura N, Kusaba Y, Sakamoto R, Maeda-Otsuka S, Yamada-Kanazawa S, Sawamura S, Kanemaru H, Makino K, Aoi J, Masuguchi S, Suzuki T and Fukushima S
All tumour cells in a patient have shared and non-shared genetic alterations, and the diversity of mutations is described as intratumoural heterogeneity (ITH). Multiregion sequencing is a genome sequencing analytical technique used for multiple, spatially-separated biopsy tissues that may further our understanding of ITH and tumour evolution. Although genetic mutations in extramammary Paget's disease (EMPD) have recently been detected by next-generation sequencing analysis, there have been no reports of ITH based on multiregion sequencing in EMPD. Thus, we clarified the landscape of ITH and tumour evolution in EMPD. We performed whole-exome sequencing on 35 tissues (30 tumour tissues and five normal skin samples as a paired control), collected from five patients with EMPD. The rate of private mutations was significantly higher than that of ubiquitous and shared mutations. Ubiquitous mutations were not present in driver genes, and most driver genes exhibited private and shared mutations. The most frequent base substitution was C>T in almost all lesions, and most mutational signatures corresponded to signature 1, 2, 3, and 8. The types of proposed aetiology in most lesions were based on age and AID/APOBEC family and BRCA1/BRCA2 mutations. Evolutionary trees were characterized by short trunks and long branches due to the extremely high ratio of private mutations. In contrast, pathogenic factors, such as base substitutions, mutational signatures, and proposed aetiology, were shared. Tumour evolution in EMPD appears to be characterized by a high level of genetic ITH with shared background factors.
The use of adalimumab to overcome delayed wound healing after wide excision for hidradenitis suppurativa
Chastagner M, Guillem P, Jullien D, Danset M and Villani AP
IgG4-related periarteritis in the superficial temporal artery, clinically mimicking giant cell arthritis
Kataoka K, Takemoto K, Makino T, Mizawa M, Yamaguchi S, Shinoda K, Toyomoto T and Shimizu T
Sexual dimorphism of the increment rate of age-specific incidence of actinic keratoses: an observational, single-centre study
Exadaktylou D, Ioannidou A, Spyridonos P, Tsele E and Bassukas I
Topical rapamycin (sirolimus) for the treatment of facial discoid dermatosis
Huang YW and Tsai TF
Pemphigus vegetans with autoantibodies against desmocollin and BP180
A case of pigmented Bartholin cyst mimicking mucosal melanoma
Park YJ, Baek DJ, Kim DC and Kim YC
Demographic characteristics of elderly Korean patients with plaque psoriasis, and effectiveness and safety of biological agents
Cha S, Shin BS, Shin JO, Lee J, Shin K, Kim H, Ko H, Kim MB and Kim B
Acute haemorrhagic oedema of infancy complicated by intestinal bleeding
Kobayashi T, Iinuma S, Kato S and Ishida-Yamamoto A
A case of urothelial carcinoma with successful continuation of enfortumab vedotin without dose reduction despite grade 3 diffuse erythema with fever
Yoshitani S, Kaneda K, Nishida M, Komura K, Moriwaki S and Fukunaga A
The use of oral colchicine as a therapeutic and prophylactic approach in a case of PFAPA syndrome with recurrent genital ulcers: an under-recognized manifestation?
Sekine S, Oyama N, Io K, Fuseda T and Hasegawa M
Late-onset Morbus Hailey-Hailey
Debeuf MPH, Verkouteren BJA, Gostyński AH, Hamid MA, Van Geel M, Steijlen PM and Verstraeten VLRM
Ablative 2940-nm Er: YAG fractional laser for the treatment of male androgenetic alopecia with predominantly frontal hairline recession
Chen SZ, Mao MQ, Miao YJ, Ding YX, Yang XS, Chen YH, Lu ZF and Jing J
[Not Available]
Jiang M, Kerkemeyer K and Newland K
Gianotti-Crosti syndrome with granulomatous changes in an infant, possibly induced by multiple hepatitis B virus vaccinations
Hioki T, Kamiya H, Yamada T, Matsunaga K and Kitajima Y
Diffuse hyperpigmentation with guttate hypopigmentation: a new pigmentary disorder
Zhang LW, Wu J, Li CH, Nie J, Li L, Zhang P, Lu YH and Chen T
Diffuse hyperpigmentation with guttate hypopigmentation (DHGH) is a new acquired pigmentary disorder. Only a few cases have previously been reported in the Chinese population, in Chinese. To summarise the clinical, dermoscopic, and histopathological findings of DHGH in the English literature, to improve the recognition and management of this condition. This was a retrospective study to summarise the clinical, dermoscopic, and pathological findings of nine cases of DHGH. All nine patients with DHGH were female. The age at onset varied from 6 to 24 years (median 17 years). Patients were generally in good health without systemic disease. The lesions were often generalised to the trunk and extremities without any discomfort. Typical lesions were characterised by multiple uniform hypopigmented spots, 2-5 mm in diameter, irregularly distributed over diffuse hyperpigmentation. Dermoscopy revealed multiple blurred patchy areas of brownish pigmentation, sparse linear and dotted vessels, and perifollicular pigmentation on a white to bright white background, surrounded by brown hyperpigmentation. Histopathological findings included mild abnormal pigment of the epidermis, focal vacuolar degeneration of the basal cells, mild pigment incontinence and perivascular lymphocytic infiltration in the dermis. DHGH is a new entity with distinctive clinical manifestations that differ from those of other known pigmentary disorders. So far, DHGH has only been reported in the Chinese population. It may not be uncommon and has not received much attention due to the few reports. The aetiology and pathogenesis of DHGH are still unknown and require further investigation.
Pseudo-Kaposi's sarcoma of the left lower extremity after endovascular catheterization for abdominal aortic aneurysm
Kubo M, Okano T, Tanaka M, Kadono T and Miyagaki T
Irregular facial scars treated with photoelectric therapy and triamcinolone acetonide injection packaging: a report of two cases
A case of anti-p200 pemphigoid after COVID-19 vaccination
Shimamoto K, Someda Y, Ushimura A, Tateishi C, Hayashi D, Tsuruta D, Hashimoto T and Goto H
Hypocapnia in women with fibromyalgia
Jonsson K, Pikwer A, Olsson EMG and Peterson M
The purpose of this study was to investigate whether people with fibromyalgia (FM) have dysfunctional breathing by examining acid-base balance and comparing it with healthy controls.
Does pain influence cognitive performance in patients with mild traumatic brain injury?
Oldenburg C, Bartfai A and Möller MC
Pain is still a neglected problem in mild traumatic brain injury (mTBI). In this cross-sectional study, we examined the frequency of musculoskeletal pain in a sample of adult patients with persistent cognitive symptoms after mTBI and whether pain level affected cognition.
Aspergillus tracheobronchitis
Carboni Bisso I, Navarro Rey L, González Anaya J, Rosciani F, Labanca MJ, Fernández Ceballos I and Las Heras M
[Frontal aslant tract: Anatomy and implications in brain glioma neurosurgery]
Villamil F, Catena Baudo M, Paolinelli PS, Domecq L, Cervio A and Bendersky M
The frontal aslant tract (FAT) connects the supplementary motor area (SMA) with the pars opercularis. Its role in language and its implications in glioma surgery remain under discussion. We present an anatomosurgical study of three cases with surgical resolution. Three patients with gliomas in the left frontal lobe were operated on using an awake patient protocol with cortical and subcortical mapping techniques, conducting motor and language evaluations. Tractography was performed using DSI Studio software. All three patients showed intraoperative language inhibition through subcortical stimulation of the FAT. Resection involving the FAT correlated with language deficits in all cases and movement initiation deficits in two cases. All patients recovered from their deficits at six months postoperatively. In conclusion, the tract has been successfully reconstructed, showing both anatomical and functional complexity, supporting the idea of its mapping and preservation in glioma surgery. Future interdisciplinary studies are necessary to determine the transient or permanent nature of the deficits.
Graph-Based Imputation Methods and Their Applications to Single Donors and Families
Israeli S, Maiers M and Louzoun Y
The outcome of Hematopoietic Stem Cell (HSCT) and organ transplant is strongly affected by the matching of the HLA alleles of the donor and the recipient. However, donors and sometimes recipients are often typed at low resolution, with some alleles either missing or ambiguous. Thus, imputation methods are required to detect the most probably high-resolution HLA haplotypes consistent with a typing. Such imputation algorithms require predefined haplotype frequencies. As such, the phasing of the typing is required for both imputation and frequency generation.We have developed a new approach to HLA haplotype and genotype imputation, where first all candidate phases of a typing are explicated, and then the ambiguity within each phase is solved. This ambiguity is solved through a graph structure of all partial haplotypes and the haplotypes consistent with them.This phasing approach was used to produce an imputation algorithm (GRIMM-Graph Imputation and Matching). GRIMM was then combined with the possibility of combining information from multiple races to produce MR-GRIMM (Multi-Race GRIMM). When family information is available, the phasing of each family member can be restricted by the others. We propose GRAMM (GRaph-bAsed faMily iMputation) to phase alleles in family pedigree HLA typing data and in mother-cord blood unit pairs. Finally, we combined MR-GRIMM with an expectation-maximization (EM) algorithm to estimate haplotype frequencies sharing information between races to produce MR-GRIMME (MR-GRIMM EM).We have shown that these algorithms naturally combine information between races and family members. The accuracy of each of these algorithms is significantly better than its current parallel methods. MR-GRIMM leads to high accuracy in matching predictions. GRAMM better imputes family members than either MR-GRIMM or any existing algorithm and has practically no phasing errors. MR-GRIMME obtains a higher likelihood than existing algorithms.MR-GRIMM, MR-GRIMME, and GRAMM are available as servers or through stand-alone versions in GITHUB and PyPi, as detailed in the appropriate sections.
[Takotsubo syndrome in dengue patient]
Saúl P, Lamberto Y, Chacón N, Sánchez Cunto M, Chediack V and Cunto E
Takotsubo syndrome, was described in Japan in 1990, it is a stress cardiomyopathy, predominantly in women, usually postmenopausal. Cardiac hypokinesia occurs, with involvement of multiple coronary territories. In intensive care unit (ICU), it is considered underdiagnosed. Manifestations of severe dengue fever include cardiovascular involvement, mainly arrhythmias and systolic dysfunction. A case of a 72-year-old man is presented, who was hospitalized in ICU for dengue fever, with plateletopenia (15000 cells/mm3) and dehydration. After fluid management the patient reported respiratory discomfort, auscultating crackling rales. A pulmonary ultrasound was made where bilateral B lines were found with B7 pattern compatible with interstitial syndrome and pulmonary edema. Basal hyperkinesia, medial and apical hypokinesia with an image consistent with apical ballooning were observed in the transthoracic echocardiogram. The electrocardiogram showed complete right bundle branch block. Chagas serology was negative and quantitative troponin I was increased. In the context of severe dengue, a Takotsubo syndrome was diagnosed. The patient evolved favorably. After discharge, a normalization of the cardiac function was stated in ultrasound images. The case is of clinical importance due to the low association of these two diseases and the need to screen for cardiac involvement in severe dengue.
[Successful treatment of Lepiota brunneoincarnata poisoning in Argentina]
Saracco AS and Lechner BE
Mushrooms containing amatoxins generate the highest number of fatal mycete poisonings on the planet. These toxins are produced not only by Amanita species, such as the well-known Amanita phalloides, but also by other genera, including Lepiota. In this work we report the treatment of a 51-year-old male patient weighing 79 kg who was referred to the hospital after 36 h of ingesting mushrooms. The mushrooms were identified as Lepiota brunneoincarnata, found for the first time in Argentina. The patient presented general malaise, nausea and repeated vomiting, abdominal pain, and diarrhea. Thanks to a quick anamnesis and early and accurate identification of the fungus, he was administered a nasogastric tube and serial activated charcoal. Additionally, N-acetylcysteine, phytomenadione and penicillin G EV were administered. The patient was discharged 11 days after admission. This case highlights the importance of obtaining a correct and sufficient anamnesis on fungi, enabling rapid analysis of them, and initiation of timely treatment for intoxication. Once again, the importance of having Toxicological Information and Advice Centers (CIAT) with experience and knowledge of micetisms is demonstrated.
[Intestinal pneumatosis and pneumoperitonum: not always a surgical indication]
Rotondaro JC, Maya M, Gutierrez M, Echavarria GL and Badariotti GH
Pneumatosis intestinalis and pneumoperitoneum are not pathological entities in themselves, they are radiological signs that result from some underlying condition. In general, these are associated with serious intra-abdominal processes that result in emergency surgeries with bowel resections. Below, we present the case of an 80-year-old woman, diagnosed with stage IV breast cancer under treatment with fulvestrant and ribociclib, who was admitted to our center due to abdominal pain and vomiting. She was diagnosed with intestinal pneumatosis and pneumoperitoneum, so she underwent exploratory laparotomy for suspected intestinal ischemia. There was no evidence of intestinal necrosis or perforation, so resection was not performed. She progressed satisfactorily during hospitalization and in the tomographic control one month after discharge there was complete resolution of the condition. Although this condition has been described in relation to episodes of increased intra-abdominal pressure, such as emesis, it has also been described in patients with neoplasms, mainly of the digestive tract, either due to local damage or toxicity associated with chemotherapy. We found no reports in the literature of pneumatosis intestinalis linked to this antineoplastic medication in humans. Probably in our case the etiology was multifactorial. It is possible that ribociclib played a role, either through an indirect mechanism associated with vomiting and immunosuppression or directly on the enterocyte due to its non-specific cellular mechanism of action.
[Ewing sarcoma/primitive hepatic neuroectodermal tumor]
Golemba AS, Aguirre Santamaría AA and García Tolosa RE
Ewing sarcoma (ES) and primitive neuroectodermal tumor (PNET) belong to the group of neoplasms called small round cell tumors. PNETs have been divided into central and peripheral. ES and peripheral PNETs arise from bones, soft tissues, or peripheral nerves. We present a case of hepatic ES/PNET in a healthy man that began four months before consultation with abdominal symptoms and weight loss. Upper gastrointestinal endoscopy and laboratory tests revealed no notable findings. The abdominal tomography revealed an enlarged liver due to a solid lesion that involved all its segments with intravenous contrast enhancement and large areas of necrosis. It compressed and displaced neighboring structures. Core needle biopsy of the liver lesion was performed: small round cell neoplasm. Immunohistochemistry revealed negativity for CD45, CKA1/A3, chromogranin, synaptophysin, and cytokeratins CK7 and CK20. Dim CD56 expression and CD99, FLI-1, and NKX2 positivity. He underwent chemotherapy treatment with carboplatin and etoposide for 6 cycles with clinical improvement and tolerance. Control images showed reduction of the mass with involvement of the right hepatic lobe, involvement of the inferior vena cava, infiltration of the right adrenal gland and upper pole of the right kidney. He was referred to hepatobiliary surgery for surgical resection of the residual lesion. The patient rejected the proposed surgical procedure. Our objective is to highlight the clinical and histological diagnostic challenge of this entity that requires ruling out other clinical entities.
[Cholestasis, delirium and pulmonary nocardiosis in a man with systemic lupus erythematosus of late onset]
Schuarzberg P, Gil Folgar M, Barakian BF, Falcón F, Barberis C and Barcia RE
A case is presented of a 64-year-old male patient who was admitted because of delirium, jaundice, a pattern of cholestasis in the liver profile and a right lung mass in the context of a constitutional syndrome and weight loss in the last eight months. The lung mass was punctured and the culture of the obtained material developed white colonies, identified by mass spectrometry (MALDI-TOF) as Nocardia cyriacigeorgica. Regarding the clinical diagnosis, it was considered as systemic lupus erythematosus (SLE), on the basis of fulfilling 8 criteria according to SLICC 2012 group, and 24 points according to EULAR/ACR 2019. The liver biopsy showed a mixt cellular infiltrate in portal spaces, with absence of interphase hepatitis and presence of peripheral ductular reaction. These findings were interpreted as liver compromise relate to SLE. Delirium was also considered as a neurological manifestation related to SLE on the basis of ruling out other causes. After being treated with antibiotics and documenting a reduction in the size of the lung mass he received cyclophosphamide in intravenous pulses, achieving normalization of his liver profile and his state of consciousness, and a progressively weight recovering. A year after he was in good health. The report of this case is justified because of the rare presenting form of late onset SLE, as well as the concomitant pulmonary nocardiosis in the absence of previous immunosuppressant treatment.
Chinese Herbal Medicine Combined With Liuzijue Exercise in Physiological Rehabilitation After Video-assisted Lung Lobectomy for Cancer: A Prospective Propensity Score Matching Study
Qi A, He Y, Gu Y, Zhang C, Qin X, Wang Y, Yang Y, Yao J, Zhou H, Yang W, Su L, Wang Q, Song J, Jiao L, Gong Y, Li J and Xu L
To observe the clinical efficacy of Chinese herbal medicine combined with Liuzijue exercise on the physiological symptoms and quality of life (QoL) in postoperative patients with early-stage lung cancer.
[Lung injury associated with vaping: A case report]
Mussio ML, Renom H and Di Fonzo G
Vaping is the practice of inhaling an aerosol created by heating a liquid with an electronic cigarette. These aerosols contain toxic, carcinogenic compounds and nicotine, an addictive substance. In Argentina, the commercialization of electronic cigarettes is prohibited. Acute lung injury associated with vaping (EVALI) is an acute respiratory disease that can be life threatening. An 18-year-old male patient, smoker, consulted for shortness of breath and fever. He presented with hypoxemic respiratory failure, and leukocytosis. The patient reported use of electronic cigarettes. Chest computed tomography (CT) showed extensive areas of ground glass opacities with areas of consolidation with air bronchogram. Antibiotic treatment was started and a fibrobronchoscopy was performed, which showed hematic debris, without endoluminal lesions. A diagnosis of EVALI was done and high doses systemic corticosteroids were prescribed. The patient evolved favorably, hewas discharged 48 hours after the end of treatment. In the control ambulatory CT was observed an improvement of the lesions. EVALI is an exclusion diagnosis, so it is necessary to rule out infectious diseases and pulmonary inflammatory processes. There are different scores that describe the probability of EVALI. The Centers for Disease Control and Prevention (CDC), developed in 2019 a definition of confirmed case based on vape exposure, imaging, clinical presentation and history. In 2019 was first reported an EVALI in Argentina. It is important to know the criteria for a confirmed case to initiate accurate and early treatment, considering the exponential increase in electronic cigarette use, mainly in the young population.
[Visual inspection with acetic acid and the control of cervical cancer in primary care]
Becerra-Canales B, Campos-Sobrino M, Campos-Sobrino M and Martinez-Muñante RD
Visual inspection with acetic acid (VIA) is a primary alternative to reduce cervical cancer (CaCu) incidence and mortality. The study aimed to determine the proportion of women aged 30-49 years who used VIA in the last two years and the factors associated with the use of the test in the primary care setting.
[Subacute ataxia associated with cerebellar ataxia, neuropathy and vestibular areflexia (CANVAS)]
Yacovino DA, Gomez A, Mayer MB and Fay F
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is a late onset neurodegenerative disorder. Its genetic basis has recently been identified in the gene encoding a subunit of the Replication Factor C (RFC1). We present the case of a 62-year-old woman who experienced a history of a biphasic presentation of imbalance and gait disorders, with rapid onset of symptoms followed by slow and progressive neurological deterioration. The diagnostic process was challenging, and numerous tests were conducted to rule out acquired and genetic causes of ataxia, leading to a diagnosis of late-onset idiopathic cerebellar ataxia. Subsequently, vestibular function tests identified severe bilateral vestibulopathy. This led to considering CANVAS among the diagnoses, which was ultimately confirmed through genetic testing (biallelic expansion of the pentanucleotide AAGGG in the RFC1 gene). This case highlights the importance of this new described genetic disease and its subacute presentation variant, emphasizing the relevance of objective vestibular function tests in idiopathic ataxias to achieve proper diagnosis and eventual genetic counseling for offspring.
Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease
Ferrari G, Kisinovsky I, Reisin R, Rozenfeld P, Neumann P, Finn V, Marchesoni C, Quieto P and
Fabry disease (FD) is an X-linked lysosomal storage disorder affecting glycosphingolipid metabolism. Most FD patients have cardiac involvement, mainly manifested as left ventricular hypertrophy (LVH), leading to early death due to complications (arrhythmias, valvular disease, vascular involvement). Early initiation of enzyme replacement therapy (ERT) before fibrosis development has been associated with better cardiac outcomes in terms of left ventricular mass index (LVMI) and functional parameters.
[Abscessed tuberculomas in immunocompetent patient]
Perez Allub MV, Reznik C, Saguier Padilla I, Aguirre AR, Folgar SS and Mercado FCB
[Immunogenicity and adverse events of SARS-CoV-2 vaccine in health workers]
Juárez V, Marina G, Ramón C, Parentis M, Mamaní L, Rúa GA, Crespo Espindola ME, Buschiazzo EA, Aciar MM, Belbruno LN, Lecumberri MB, Ralle AC, Luna Murillo JM, Delgado L, Miranda Cáceres I, Bonnal JP, Guzman VE and Eddelcop BA
The aim of this study was to evaluate the adverse effects and immune response associated with IgG anti S1 SAEA-CoV-2 antibodies among healthcare workers at Señor del Milagro Hospital in Salta city, after receiving two doses of COVID-19 vaccine.
[Pituitary metastases: a diagnostic and therapeutic challenge]
Loto MG, Rogozinski A, Alfieri A, Ballarino MC, Battistone MF, Chervin A, Danilowicz KD, Diez S, Fainstein Day P, Furioso A, Glerean M, Gonzalez Pernas M, Katz D, Mallea Gil MS, Martinez M, Miragaya KA, Sabate MI, Slavinsky P, Sosa S, Szuman G, Tkatch J, Vitale MN and Guitelman M
Sellar metastases (SM) are rare manifestations of malignancy. Breast and lung cancer are the most common primary tumors. Most cases are diagnosed in patients with advanced malignant disease; however, symptoms of pituitary involvement can precede the diagnosis of the primary tumor.
[Mortality in bacterial pneumonia due to pneumococcus]
Sousa Matias D, Fielli M, González A, Zurita Villarroel I and Fernández A
Despite improvements in health care, pneumonia-associated mortality remains high. The objective of this study was to analyze the factors associated with mortality in bacteremic pneumonia caused by pneumococcus.
[Potentially inappropriate medication in older adults with palliative care at home]
Mozeluk NB, Gallo Acosta CM, Cunha Ferre MF, Bobillo M, Donnianni IB, Bellomo MJ and Saimovici JM
Older adults with advanced chronic diseases and palliative care needs are more exposed to polypharmacy and use of potentially inappropriate medication, which generates a high risk of adverse events and impaired quality of life. The objective of this study was to describe the frequency of potentially inappropriate medication use among older adults with palliative care needs receiving home care services after hospital discharge.
[Diagnostic significance of C4d in membranous nephropathy]
Dorado EG, Zambrano León E, García Fernández MV, Khoury M and Rausch S
Membranous nephropathy (MN) is the most common cause of primary nephrotic syndrome in adults (20-30%). Light microscopy shows thickening of glomerular basement membrane with appearance of spikes. These histological findings are not evident in early forms, in which case the granular deposition pattern of IgG and/or C3 in the basement membrane by immunofluorescence (IF) constitutes the diagnostic tool that allows to differentiate it from minimal change disease (MCD). Complement system plays a key role in the pathophysiology of MN. C4d is a degradation product and a marker of the complement system activation. C4d labelling by immunohistochemical (HI) technique can help in the differential diagnosis between both glomerulopathies NM and MCD when the material for IF is insufficient and light microscopy is normal. Our objective was to explore the discrimination power of C4d to differentiate between MN and MCD in renal biopsy material.
[Cat-scratch disease, clinical features in adults]
Rodríguez Arias EA, Ortuño Lobo RG, Giardullo C and Sola MF
Cat-scratch disease (CSD) is caused by Bartonella henselae and it is under-recognized in adults because it mainly affects children. Clinical course is commonly benign and self-limited; occasionally, there may be systemic involvement.
Phenotype and genotype of patients with multiple endocrine neoplasia type 1 studied in Argentina
Fainstein-Day P, Serra MP, Fernandez Gianotti T, Bosco MB, Bell S and Vial ML
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1.
[Artificial Intelligence: accuracy for the diagnosis of precancerous lesions of the cervix]
Medina Ruiz L, Chahla RE, Vega IM, Ortega ES, Barrenechea GG and Ferre Contreras M
To compare the diagnostic sensitivity of artificial intelligence (AI) assisted videocolposcopy with standard videocolposcopy performed by specialist colposcopists.
Cardiovascular adaptive response to training in elite athletes. Comparison between endurance and non-endurance athletes
Prada EO, Morita LA, Longo AF, Cianciulli TF, Lax JA and Balardini ED
The different structural modifications that have been described in the heart of the high-performance athlete depend on factors such as age, gender, type of sport, and the intensity and time dedicated to training.
[Reduction of prescription error and its adverse effects in the pediatric intensive care area]
Fajreldines A, Pauluzzi A, Torres S and Pellizzari M
Prescription is the node of medication management and use that most frequently presents medication errors, according to various studies. This study aims to analyze prescriptions before and after the incorporation of a multidisciplinary round in the pediatric intensive care area and its implication in the occurrence of adverse drug events.
[Liver transplantation as treatment for acetaminophen poisoning]
Cervantes JG, Gasque RA, Lenz ME, Barbero M, Navarro L, Roca I, Cairo F, Mattera FJ and Quiñonez EG
Acetaminophen is a commonly used analgesic and antipyretic drug, which has experienced an increase in its consumption in recent years in our environment. There has also been an increase in the number of accidental and intentional overdoses that were treated by the health system. Its toxicity is dose-dependent and can cause fulminant liver failure, becoming one of the main reasons for liver transplantation in English-speaking countries. The case of a 28-year-old woman with a history of major depression and five previous suicide attempts, who deliberately ingested a significant amount of paracetamol tablets, is here presented. She developed fulminant liver failure and metabolic acidosis, for which she underwent an emergency liver transplant due to the severity of her condition, from which she evolved favorably. The decision to perform a liver transplant in serious cases like this and under a condition of severe psychiatric vulnerability is challenging and must be carefully considered. This particular case illustrates the importance of multidisciplinary care including psychiatric evaluation in patients with acetaminophen poisoning.
[Low back pain and referral to the spine specialist: situation and resources in Buenos Aires]
Besse M, Ricciardi G, Romagnoli J, Gaggiotti S, Cardahi F, Formaggin S, Salas Braconi J, Carrioli G and Sarotto AJ
90% of cases of acute low back pain have no specific underlying cause. International guidelines are available to help identify those individuals who require specialized care. However, in our country, there is a limited emphasis on primary healthcare, with the primary focus on hospital-based care. The aim of this study is to provide an overview of the diagnostic and therapeutic resources utilized in the initial care of patients experiencing low back pain at their first consultation with a specialist physician.
Assessing the Disruption Impact on Healthcare Delivery
Fatani M, Shamayleh A and Alshraideh H
Health emergency outbreaks such as the COVID-19 pandemic make it challenging for healthcare systems to ration medical resources and patient care. Such disastrous events have been increasing over the past years and are becoming inevitable, necessitating the need for healthcare to be well-prepared and resilient to unpredictable rises in demand. Quantitative and qualitative based decision support systems increase the effectiveness of planning, alleviating uncertainties associated with the crisis. This study aims to understand how the COVID-19 pandemic has affected the performance of healthcare systems in different areas and to address the associated disruption. A cross-sectional online survey was conducted in the Kingdom of Saudi Arabia and the United Arab Emirates among healthcare workers who worked during the pandemic. The pandemic-related disruption and its psychometric properties were assessed using Structural Equations Modeling (SEM) with 5 latent factors: Staff Mental Health, Communication Level, Planning and Readiness, Healthcare Supply Chain, and Telehealth. Responses from highly qualified participants with many years of experience in hospital settings were collected and analyzed. Results show that the model satisfactorily fits the data with a CLI of 0.91 and TLI of 0.88. The model indicates that enhancing supply chain management, planning, telehealth usage, and communication level across the healthcare system can mitigate the disruption. However, the lack of mental health management for healthcare workers can significantly disrupt the quality of delivered care. Staff mental health and healthcare supply chain, respectively, are the highest contributors to varying degrees of disruption in healthcare delivery. This study provides a direction for more research focusing on determinants of healthcare efficiency. It also provides decision-makers insights into the main factors leading to disruptions in healthcare systems, allowing them to shape their outbreak response and better prepare for future health emergencies.
Efficacy of switching from originator etanercept to biosimilar YLB113 in real-world patients with rheumatoid arthritis: A retrospective 12 months follow-up study
Sakane H, Yonemoto Y, Okamura K, Suto T, Inoue M, Mitomi H, Tsuchida K, Kaneko T, Tamura Y and Chikuda H
To investigate the disease activity in real-world patients with rheumatoid arthritis (RA) who switched from originator etanercept (ETN) to biosimilar YLB113. Forty one RA patients who switched from ETN to YLB113 were divided into 2 groups based on the Disease Activity Score based on the 28-joint count (DAS28) 12 months after switching (R group: DAS28 < 2.6, N group: DAS28 ≥ 2.6), and the baseline characteristics were statistically examined. A receiver operating characteristics (ROC) analysis was performed to estimate the cut-off value of DAS28 at baseline to achieve remission 12 months after switching. There was no significant difference in the DAS28 at baseline and 12 months after switching ( = .83). Sixteen out of the 20 patients in remission at baseline achieved remission after switching. A univariate analysis revealed the rheumatoid factor ( = .04) and DAS28 ( < .001) at baseline were significantly lower in the R group than in the N group. Furthermore, logistic regression analysis revealed DAS28 was an independent factor ( = .004) for achieving remission 12 months after switching. An ROC curve analysis showed the optimal cut-off value for DAS28 at baseline to achieve remission at 12 months after switching was 2.5. RA patients who achieved remission using originator ETN, were able to maintain remission even if they switched to YLB113.
[Intradural extramedular cervical schwannoma]
Romero N, Gutierrez Moyano A and Aransibia L
PIRCHE-II Risk and Acceptable Mismatch Profile Analysis in Solid Organ Transplantation
Niemann M, Matern BM and Spierings E
To optimize outcomes in solid organ transplantation, the HLA genes are regularly compared and matched between the donor and recipient. However, in many cases a transplant cannot be fully matched, due to widespread variation across populations and the hyperpolymorphism of HLA alleles. Mismatches of the HLA molecules in transplanted tissue can be recognized by immune cells of the recipient, leading to immune response and possibly organ rejection. These adverse outcomes are reduced by analysis using epitope-focused models that consider the immune relevance of the mismatched HLA.PIRCHE, an acronym for Predicted Indirectly ReCognizable HLA Epitopes, aims to categorize and quantify HLA mismatches in a patient-donor pair by predicting HLA-derived T cell epitopes. Specifically, the algorithm predicts and counts the HLA-derived peptides that can be presented by the host HLA, known as indirectly-presented T cell epitopes. Looking at the immune-relevant epitopes within HLA allows a more biologically relevant understanding of immune response, and provides an expanded donor pool for a more refined matching strategy compared with allele-level matching. This PIRCHE algorithm is available for analysis of single transplantations, as well as bulk analysis for population studies and statistical analysis for comparison of probability of organ availability and risk profiles.
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Psychiatry AI RAISR 4D System Psychiatry + Mental Health