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Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.
View Article and Find Full Text PDFFournier's Gangrene Severity Index and Charlson Comorbidity Index Predict Mortality, Intensive Care Unit Admission, and Length of Hospital Stay in Patients With Fournier's Gangrene: An Analysis of 264 Consecutive Patients.
Cureus
December 2024
Urology, SSM Health Saint Louis University Hospital, Saint Louis, USA.
Introduction Fournier's gangrene (FG) is a rapidly progressing necrotizing fasciitis. The Fournier's Gangrene Severity Index (FGSI), in conjunction with the Charlson Comorbidity Index (CCI), has been used as a mortality predictor during hospitalization. Patients with diabetes have also been shown to be at an increased risk for the development of FG.
View Article and Find Full Text PDFMalay translation and validation of modified checklist for autism in toddlers, revised with follow-up (M-CHAT-R/F).
Front Pediatr
December 2024
Child Development Centre (CDC), Department of Pediatrics, Universiti Kebangsaan Malaysia Medical Centre (UKMMC), Kuala Lumpur, Malaysia.
Introduction: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition diagnosed clinically based on phenotypic characteristics and criteria such as the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). Due to its significant social, emotional, and psychological impacts, early identification and diagnosis are crucial for starting early intervention and improving outcomes. A screening tool is imperative in identifying young children at risk so timely intervention can be instituted.
View Article and Find Full Text PDFBackground: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS.
View Article and Find Full Text PDFRecent advancements in large language models (LLMs) like ChatGPT and LLaMA have shown significant potential in medical applications, but their effectiveness is limited by a lack of specialized medical knowledge due to general-domain training. In this study, we developed Me-LLaMA, a new family of open-source medical LLMs that uniquely integrate extensive domain-specific knowledge with robust instruction-following capabilities. Me-LLaMA comprises foundation models (Me-LLaMA 13B and 70B) and their chat-enhanced versions, developed through comprehensive continual pretraining and instruction tuning of LLaMA2 models using both biomedical literature and clinical notes.
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