Parkinson's Disease Gene Screening in Familial Cases from Central and South America.

BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations. OBJECTIVES: Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America. METHODS: We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture-sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed. RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population. CONCLUSIONS: This is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European-derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Embracing the illusion of explanatory depth: A strategic framework for using iterative prompting for integrating large language models in healthcare education.

Healthcare educators are exploring ways to integrate Large Language Models (LLMs) into the curriculum. At the same time, they are concerned about the negative impact on students' cognitive development. There is concern that the students will not learn to think and problem-solve by themselves and instead become dependent on LLMs to find answers. In addition, the students could start accepting the LLM generated responses at face value. The Illusion of Explanatory Depth (IoED) is a cognitive bias where humans believe they understand complex phenomena in more depth than they do. This illusion is caused when people rely on external sources of information rather than deeper levels of internalized knowledge. This illusion can be exposed by asking follow-up in depth questions. Using the same approach, specifically iterative prompting, can help students interact with LLM's while learning actively, gaining deeper levels of knowledge, and exposing the LLM shortcomings. The article proposes that educators encourage use of LLMs to complete assignments using a template, that promotes students' reflections on their interactions with LLMs, using iterative prompting. This process based on IoED, and iterative prompting will help educators integrate LLMs in the curriculum while mitigating the risk of students becoming dependent on these tools. Students will practice active learning and experience firsthand the inaccuracies and inconsistencies in LLM responses.

Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.

Introduction: Genetic testing is increasingly utilized in nephrology practice, but limited real-world data exist on variant reclassification following renal genetics testing. Methods: A cohort of patients at the Cleveland Clinic Renal Genetics Clinic who underwent genetic testing through clinical laboratories was assessed with their clinical and laboratory data analyzed. Results: Between January 2019 and June 2023, 425 new patients with variable kidney disorders from 413 pedigrees completed genetic testing through 10 clinical laboratories, including 255 (60%) females with median (25th, 75th percentiles) age of 36 (22-54) years. Multigene panel was the most frequently used modality followed by single-gene testing, exome sequencing (ES), chromosomal microarray (CMA), and genome sequencing (GS). At initial report, 52% of patients had ≥1 variants of uncertain significance (VUS) with or without concurrent pathogenic variant(s). Twenty amendments were issued across 19 pedigrees involving 19 variants in 17 genes. The overall variant reclassification rate was 5%, with 63% being upgrades and 32% downgrades. Of the reclassified variants, 79% were initially reported as VUS. The median time-to-amendments from initial reports was 8.4 (4-27) months. Following the variant reclassifications, 60% of the patients received a new diagnosis or a change in diagnosis. Among these, 67% of patients received significant changes in clinical management. Conclusion: Variant reclassification following genetic testing is infrequent but important for diagnosis and management of patients with suspected genetic kidney disease. The majority of variant reclassifications involve VUS and are upgrades in clinically issued amended reports. Further studies are needed to investigate the predictors of such events.

Impact and future of telemedicine amidst the COVID-19 pandemic: a systematic review of the state-of-the-art in Latin America / Impacto e futuro da telemedicina em meio à pandemia de COVID-19: uma revisão sistemática do estado da arte na América Latina

Abstract Significant progress has been made in using information and communication technologies in medicine, by impacting the quality of health-care delivery system and patient care, and paving the way for ground-breaking tools for e-health and clinical decision-support systems. This study investigates the extent to which the evolution of telemedicine applications has been used to support patient care in Latin America (LATAM) amidst the pandemic. Theoretically, the study applied the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology to identify the impact of telemedicine in the region. Practically, the paper provides a systematic mapping study of the different domain areas and methodological progress in Telemedicine that occurred during the pandemic, and applied a text mining technique to understand the intensities of the terms expressed by the analyzed studies. The results show that while telemedicine has not been extensively used, a greater percentage of the studies report that telemedicine was effective. Approximately 70% positive emotional valence score was found. The paper also provides an empirical discussion and recommendations for the next steps in ample adoption of telemedicine.

Resumo Foram feitos progressos significativos na utilização de tecnologias de informação e comunicação na medicina, com impacto no sistema de prestação de cuidados de saúde e nos cuidados aos doentes, e abrindo caminho a ferramentas inovadoras para sistemas eletrônicos de saúde e de apoio à decisão clínica. O presente estudo investiga até que ponto o crescimento das aplicações da telemedicina tem sido utilizado para apoiar os cuidados aos doentes na América Latina (LATAM) em meio da pandemia. Teoricamente, o estudo aplicou a metodologia Preferred Reporting Items for Systematic Reviews e Meta-Analyses (PRISMA) para identificar o impacto da telemedicina na região. Na prática, o artigo apresenta um estudo de mapeamento sistemático das diferentes áreas de domínio e progresso metodológico em telemedicina que ocorreram durante a pandemia, e aplicou uma técnica de text mining para compreender as intensidades dos termos expressos pelos pesquisas analisadss. Os resultados mostram que, embora a telemedicina não tenha sido amplamente utilizada, um maior percentual de estudos informa que a telemedicina foi eficaz. Foi encontrada uma pontuação de valência emocional positiva de aproximadamente 70%. O documento também traz uma discussão empírica para os próximos passos na adoção da telemedicina.

Impact and future of telemedicine amidst the COVID-19 pandemic: a systematic review of the state-of-the-art in Latin America.

Significant progress has been made in using information and communication technologies in medicine, by impacting the quality of health-care delivery system and patient care, and paving the way for ground-breaking tools for e-health and clinical decision-support systems. This study investigates the extent to which the evolution of telemedicine applications has been used to support patient care in Latin America (LATAM) amidst the pandemic. Theoretically, the study applied the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology to identify the impact of telemedicine in the region. Practically, the paper provides a systematic mapping study of the different domain areas and methodological progress in Telemedicine that occurred during the pandemic, and applied a text mining technique to understand the intensities of the terms expressed by the analyzed studies. The results show that while telemedicine has not been extensively used, a greater percentage of the studies report that telemedicine was effective. Approximately 70% positive emotional valence score was found. The paper also provides an empirical discussion and recommendations for the next steps in ample adoption of telemedicine.

Correction to: Cardiologists' Perception of Wearable Device Data in Patients with Heart Failure.

This paper originally published with problems in the metadata, the original article has been corrected.