Rare Disease Detection by Sequence Modeling with Generative Adversarial Networks [PDF]
arXiv, 2019 Rare diseases affecting 350 million individuals are commonly associated with delay in diagnosis or misdiagnosis. To improve those patients' outcome, rare disease detection is an important task for identifying patients with rare conditions based on longitudinal medical claims.
arxiv
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Successful Intra-peritoneal Antibiotic Therapy for Primary Abdominal Nocardiosis in an Immunocompetent Young Female Masquerading as Carcinoma Ovary [PDF]
, 2012 Nocardiosis is a common opportunistic infection in the immunocompromised and in patients with chronic debilitating diseases,e.g continuous ambulatory peritoneal dialysis (CAPD) patients.
Bafna, UD +3 more
core
AutoRD: An Automatic and End-to-End System for Rare Disease Knowledge Graph Construction Based on Ontologies-enhanced Large Language Models [PDF]
arXivRare diseases affect millions worldwide but often face limited research focus due to their low prevalence. This results in prolonged diagnoses and a lack of approved therapies. Recent advancements in Large Language Models (LLMs) have shown promise in automating the extraction of medical information, offering potential to improve medical diagnosis and ...
arxiv
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
Rare coding SNP in DZIP1 gene associated with late-onset sporadic Parkinson's disease [PDF]
arXiv, 2011 We present the first application of the hypothesis-rich mathematical theory to genome-wide association data. The Hamza et al. late-onset sporadic Parkinson's disease genome-wide association study dataset was analyzed. We found a rare, coding, non-synonymous SNP variant in the gene DZIP1 that confers increased susceptibility to Parkinson's disease.
arxiv
Illustrations of Exceptional Symptoms and Examples of Rare Forms of Disease [PDF]
, 1886 Joanna Hutchinson
openalex +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Diffuse Tracheo-bronchial Amyloidosis: A Rare Variant of a Protean Disease [PDF]
, 1963 C. Barrington Prowse, R. I. K. Elliott
openalex +1 more source