Results 161 to 170 of about 4,472,600 (290)

Impact of cannabis use on white matter hyperintensities in adults with and without chronic HIV disease. [PDF]

open access: yesJ Neurovirol
Shaji S   +5 more
europepmc   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

open access: yesClinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler   +5 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu   +5 more
wiley   +1 more source

A 58‐year‐old woman experiencing occasional dizziness, impaired awareness, and deep feeling of fear

open access: yes
Brain Pathology, EarlyView.
Alessandro Selvaggini   +5 more
wiley   +1 more source

Early tocilizumab and outcomes in acute necrotizing encephalopathy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Early tocilizumab and outcome in acute necrotising encephalopathy. Aim To evaluate the timing and safety of tocilizumab in acute necrotizing encephalopathy (ANE). Method This was a multicentre retrospective study evaluating outcomes (modified Rankin Scale [mRS]) in children with ANE treated with tocilizumab. A logistic regression model determined a cut‐
Velda X Han   +14 more
wiley   +1 more source

White matter hyperintensities in Alzheimer's disease in the era of anti-amyloid therapies. [PDF]

open access: yesAlzheimers Dement (Amst)
Garnier-Crussard A   +7 more
europepmc   +1 more source

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

open access: yesJournal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich   +3 more
wiley   +1 more source

Recognizing Signs of Abusive Head Trauma

open access: yesJournal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background Abusive head trauma (AHT) remains the leading cause of fatal traumatic brain injury in infants and young children. Diagnosis is frequently delayed or missed due to nonspecific clinical presentation and unreliable histories, making neuroimaging a critical component of the diagnostic process. Objective This review synthesises computed
Maísa Naomi Irie   +7 more
wiley   +1 more source

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