Results 51 to 60 of about 1,515,123 (296)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay +13 more
wiley +1 more source
Annals of Pediatric Cardiology, 2023 The hemodynamics of anomalous origin of the pulmonary artery (PA) from the aorta is challenging. Different sources of blood supply to the lungs lead to a unique state of differential flow, pressure, and pulmonary vascular resistance in each lung.
Saurabh Kumar Gupta +4 more
doaj +1 more source
An anomalous origin of the middle meningeal artery [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1973 A human skull is described in which the middle meningeal artery probably arose bilaterally from the lacrimal artery. The branches of the middle meningeal vessels, however, were normal both in their position and distribution. This anomaly is a rare occurrence and is of neurosurgical importance.
G, Royle, R, Motson
openaire +2 more sources
Global Rather Than Vertical‐Selective Saccadic Abnormalities in Progressive Supranuclear Palsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To test whether vertical saccades are preferentially affected in Progressive Supranuclear Palsy (PSP). Methods PSP patients (n = 24) were compared to age‐matched controls (n = 94) and two degenerative groups (Alzheimer's disease, n = 20; Lewy body disease, n = 50).
Duy Duan Nguyen +6 more
wiley +1 more source
An evolutionary approach to anomalous intuition [PDF]
, 2011 Intuition has always been associated with a hint of the anomalous, with credible examples of intuitive knowledge that appear to arise from the future or from distant locations without sensory mediation.
Broughton, Richard S
core
Arthritis Care &Research, EarlyView.Objective This study aimed to describe real‐world trends in preconception and prenatal use of antirheumatic drugs among pregnant individuals with rheumatic diseases in Ontario, Canada. Methods We conducted a time‐series analysis using repeated cross‐sectional data to examine annual patterns of disease‐modifying antirheumatic drug (DMARD) use among ...
Shenthuraan Tharmarajah +6 more
wiley +1 more source
Indian Journal of Radiology and Imaging, 2014 Bilateral duplicated origin of V-1 segment of vertebral arteries is an extremely rare vascular variant and only two such cases have been reported so far.
CS Rameshbabu +3 more
doaj +1 more source
Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?
Arthritis Care &Research, EarlyView.Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet +11 more
wiley +1 more source
Echocardiographic imaging of anomalous origin of the coronary arteries
, 2010 In the past, coronary arterial anomalies have been difficult to diagnose by non-invasive methods. Identification of coronary arterial origins is now a routine part of the standard paediatric echocardiogram.
Meryl S. Cohen +2 more
core +1 more source