Case Report: Flow cytometric differential diagnosis of a peripheral T-cell lymphoma, NOS with complete loss of CD45 and dim expression of CD3. [PDF]
Szalóki G+7 more
europepmc +1 more source
Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention
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
HPDL Variant Type Correlates With Clinical Disease Onset and Severity
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
Development and prospective implementation of a large language model based system for early sepsis prediction. [PDF]
Shashikumar SP+8 more
europepmc +1 more source
Staged approach to managing aggressive clival lesions extending into occipital condyles illustrated by a rare urothelial carcinoma metastasis: illustrative case. [PDF]
Balasubramanian K, Zuccato JA, Dunn IF.
europepmc +1 more source
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade+8 more
wiley +1 more source
Effects of a novel differential diagnosis aid for managing patients with unexplained fatigue in primary care: a prospective randomized, controlled, open and multicenter study in primary care. [PDF]
von Känel R+11 more
europepmc +1 more source
Diagnosaurs: A Differential Diagnosis Resource, Vol.6 (4) July - August 2008 [PDF]
Houston Academy of Medicine-Texas Medical Center Library
core +1 more source
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini+24 more
wiley +1 more source
Endometriosis Can Cause Gastric Obstruction. [PDF]
Tahir S, Ilyas M, Gasem J.
europepmc +1 more source