Rare diseases - Open Access .click

Results 191 to 200 of about 11,812,623 (407)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source

Drugs for rare diseases [PDF]

, 1974
W H Lyle
openalex +1 more source

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki +5 more
wiley +1 more source

RareAgents: Advancing Rare Disease Care through LLM-Empowered Multi-disciplinary Team [PDF]

arXiv
Rare diseases, despite their low individual incidence, collectively impact around 300 million people worldwide due to the vast number of diseases. The involvement of multiple organs and systems, and the shortage of specialized doctors with relevant experience make diagnosing and treating rare diseases more challenging than common diseases.
arxiv

Letter: Drugs for rare diseases. [PDF]

, 1975
R H Johnson, H J Koegh, Rabindra K. Nanda +2 more
openalex +1 more source

Whole-genome sequencing of patients with rare diseases in a national health system

Nature, 2020
E. Turro +452 more
semanticscholar +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee +19 more
wiley +1 more source

Rare Disease Differential Diagnosis with Large Language Models at Scale: From Abdominal Actinomycosis to Wilson's Disease [PDF]

arXiv
Large language models (LLMs) have demonstrated impressive capabilities in disease diagnosis. However, their effectiveness in identifying rarer diseases, which are inherently more challenging to diagnose, remains an open question. Rare disease performance is critical with the increasing use of LLMs in healthcare settings.
arxiv

Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) in patients with CADASIL.
Xuejiao Men +11 more
wiley +1 more source

P-17 Importance of the ortopantomographic study for the detection of life-treatening rare diseases [PDF]

, 2016
A rapid diagnostic of some Rare Diseases (RD) can save the patent's life.
Adserias Garriga, Maria José +5 more
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