Results 61 to 70 of about 442,810 (314)

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

open access: yes
Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana   +8 more
wiley   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker   +9 more
wiley   +1 more source

Carotid Atherosclerotic Markers in CADASIL [PDF]

open access: yes, 2011
Purpose: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations of the NOTCH3 gene. Marked variations in disease severity have raised the hypothesis that
Aout, Mounir   +7 more
core   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara   +18 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Cost-Effectiveness Analysis of Endoscopic Ultrasound versus Magnetic Resonance Cholangiopancreatography in Patients with Suspected Common Bile Duct Stones. [PDF]

open access: yes, 2015
Patients with suspected common bile duct (CBD) stones are often diagnosed using endoscopic retrograde cholangiopancreatography (ERCP), an invasive procedure with risk of significant complications.
Davidson, BR   +3 more
core   +6 more sources

Clinical significance of microRNA-328-3p and bone metabolism biomarkers in gout patients with different musculoskeletal ultrasonography imaging

open access: yesJournal of Orthopaedic Surgery and Research
Aims MicroRNA (miRNA) participates in the pathophysiological processes of multiple metabolic diseases, including gout. In gout patients, there is concomitant derangement of bone metabolism.
Qingqing Song   +6 more
doaj   +1 more source

MicroRNA-217 attenuates intima–media complex thickness of ascending aorta measured by ultrasound bio-microscopy and inhibits inflammation and lipid metabolism in atherosclerotic models of ApoE−/− mice

open access: yesLipids in Health and Disease, 2018
Background Little investigation was done to test the efficiency of microRNA-217 (miR-217) on atherosclerosis in vivo. Methods ApoE−/− mice were used to construct atherosclerotic models and ultrasound bio-microscopy (UBM) was applied to detect the intima ...
Haina Liu   +3 more
doaj   +1 more source

The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp   +4 more
wiley   +1 more source

Noninvasive Assessment of Tumor Histological Grade in Invasive Breast Carcinoma Based on Ultrasound Radiomics and Clinical Characteristics: A Multicenter Study

open access: yesTechnology in Cancer Research & Treatment
Rationale and Objectives: We aimed to develop and validate prediction models for histological grade of invasive breast carcinoma (BC) based on ultrasound radiomics features and clinical characteristics.
Lifang Ge MD   +4 more
doaj   +1 more source

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