Results 61 to 70 of about 13,927 (162)
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
ABSTRACT We describe a rare case of suspected delayed‐onset TA‐TMA with ocular and neurological involvement following allo‐HSCT. The condition was refractory to standard therapies; neurological improvement was temporally associated with ruxolitinib initiation, suggesting a possible GVHD overlap.
Lise‐Marie Pillet +13 more
wiley +1 more source
ABSTRACT Cytomegalovirus (CMV) is a prevalent herpesvirus that remains typically asymptomatic in immunocompetent individuals but can cause severe, potentially life‐threatening disease in immunocompromised patients. This study assessed the impact of CMV‐associated lower respiratory tract infections (LRTIs), diagnosed by polymerase chain reaction (PCR ...
Theodora Zouvani +10 more
wiley +1 more source
Fundoscopy on an Inpatient Neurology Service: An Observational Study
There is consensus among neurologists that fundoscopy is an essential part of the complete neurological examination. In theory, fundoscopy allows identification of disc swelling, vascular changes or retinal pathology that may have significant ...
Moran Levin; Robert Shin
core
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei +17 more
wiley +1 more source
Determining the minimum deliberate practice time for fundoscopy proficiency on canine models
Background Direct and indirect fundoscopy are Day One skills for new veterinary graduates, yet limited evidence exists on the practice time needed to achieve competency.
Elpida Artemiou +3 more
core +1 more source
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
Background Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagnosis compared to when using it ...
Ahra Cho +7 more
doaj +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
ABSTRACT Late‐onset neonatal meningitis due to Serratia marcescens is an uncommon but potentially life‐threatening healthcare‐associated infection in NICUs. We report a sporadic case in a preterm infant who developed fever on Day 17 of life after a prolonged hospital stay for feeding difficulties and neonatal jaundice.
Bunngeth Seng +2 more
wiley +1 more source

