Results 161 to 170 of about 275,895 (351)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson   +3 more
wiley   +1 more source

Angioarchitecture Related to Hemorrhage in Cerebral Arteriovenous Malformations

open access: bronze, 1998
Shinji Hirai   +4 more
openalex   +2 more sources

Intraperitoneal hemorrhage due to segmental arterial mediolysis associated with cerebral vasospasm after subarachnoid hemorrhage [PDF]

open access: gold, 2022
Chie Matsuura   +5 more
openalex   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

Expression and Cell Distribution of SENP3 in the Cerebral Cortex After Experimental Subarachnoid Hemorrhage in Rats: A Pilot Study

open access: green, 2014
Yiqing Yang   +11 more
openalex   +2 more sources

Back Again to the Future: A New Era for Cerebroprotection

open access: yesAnnals of Neurology, EarlyView.
Cerebroprotection is a fresh framework for designing neurological therapy that targets glia and vascular cells, in addition to neurons. In the future, successful cerebroprotection will involve targeting all elements of the neurovascular unit. Preclinical trials must include functional outcomes, as well as lesion morphometry.
Patrick Lyden
wiley   +1 more source

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Lewy body disease (LBD) is a complex neurodegenerative disorder characterized by the accumulation of misfolded α‐synuclein in the brain. Neuroinflammation has long been implicated in LBD pathogenesis, and recent genetic studies in Parkinson's disease (a clinical manifestation of LBD) have shown consistent association with the human leukocyte ...
Marios Gavrielatos   +34 more
wiley   +1 more source

Timing of Peri‐Ictal MRI Abnormalities in Status Epilepticus – One Size Does Not Fit All

open access: yesAnnals of Neurology, EarlyView.
Objective We aimed to investigate timing of occurrence of peri‐ictal MRI abnormalities – a potential risk biomarker of status epilepticus‐related cerebral injury (t2). Methods This prospective study enrolled adult patients with status epilepticus and acute magnetic resonance imaging (MRI); patients with peri‐ictal MRI abnormalities underwent follow‐up ...
Pilar Bosque Varela   +12 more
wiley   +1 more source

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