Results 21 to 30 of about 3,123,862 (240)
Vascular endothelial‐cadherin as a marker of endothelial injury in preclinical Alzheimer disease
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1926-1940, December 2022., 2022 Abstract Objective Endothelial dysfunction is an early and prevalent pathology in Alzheimer disease (AD). We here investigate the value of vascular endothelial‐cadherin (VEC) as a cerebrospinal fluid (CSF) marker of endothelial injury in preclinical AD.
Rawan Tarawneh +5 more
wiley +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source
Brain magnetic resonance imaging predictors in anti‐N‐methyl‐D‐aspartate receptor encephalitis
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1974-1984, December 2022., 2022 Abstract Objective Brain magnetic resonance imaging (MRI) findings in anti‐N‐methyl‐D‐aspartate receptor (NMDAR) encephalitis are nonspecific and rarely have obvious associations with clinical characteristics and outcomes. This study aimed to comprehensively describe the MRI features of patients with NMDAR encephalitis, examine their associations with ...
Ying‐Ying Zhao +8 more
wiley +1 more source
Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1999-2009, December 2022., 2022 Abstract Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM) changes on brain MRI, which often trigger biochemical and genetic confirmation of the diagnosis. In early or pre‐symptomatic disease stages, these typical MRI changes might be absent, hampering early diagnosis.
Daphne H. Schoenmakers +7 more
wiley +1 more source
Sex Trouble: Common pitfalls in incorporating sex/gender in medical machine learning and how to avoid them [PDF]
, 2022 False assumptions about sex and gender are deeply embedded in the medical system, including that they are binary, static, and concordant. Machine learning researchers must understand the nature of these assumptions in order to avoid perpetuating them. In this perspectives piece, we identify three common mistakes that researchers make when dealing with ...
arxiv +1 more source
Consanguinity and Disorders of Sex Development [PDF]
Human Heredity, 2014 Disorders of sex development (DSD) are defined as 'congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical' [Lee et al., Pediatrics 2006;118:e488-e500]. Studies conducted in Western countries, with low rates of consanguinity, show that truly ambiguous genitalia have an estimated incidence of 1:5,000 births.
Anu Bashamboo, Ken McElreavey
openaire +3 more sources
Malignancy in disorders of sex development [PDF]
Translational Andrology and Urology, 2016 Disorders of sex development (DSD) represent a spectrum of conditions in which chromosomal, gonadal, or anatomic sex are atypical and affect 1 in 4,500-5,000 live births. The diagnosis of DSD raises concerns of tumor risk and treatment as well as future fertility preservation.
Thomas F. Kolon, Martin Kathrins
openaire +3 more sources
Violent suicide attempt history in elderly patients with bipolar disorder: The role of sex, abdominal obesity, and verbal memory: Results from the FACE-BD cohort (FondaMental Advanced center of Expertise for Bipolar Disorders) [PDF]
Journal of Affective Disorders, Elsevier, 2022, 296, pp.265-276, 2022 Background: Bipolar disorder (BD) is a chronic, lifelong condition, associated with increased risk of obesity, cognitive impairment, and suicidal behaviors. Abdominal obesity and a higher risk of violent suicide attempt (SA) seem to be shared correlates with older age, BD, and male sex until middle age when menopause-related female body changes occur ...
arxiv +1 more source
Global estimation and scenario-based projections of sex ratio at birth and missing female births using a Bayesian hierarchical time series mixture model [PDF]
Ann. Appl. Stat. 15 (3) 1499 - 1528, September 2021, 2020 The sex ratio at birth (SRB) is defined as the ratio of male to female live births. The SRB imbalance in parts of the world over the past several decades is a direct consequence of sex-selective abortion, driven by the co-existence of son preference, readily available technology of prenatal sex determination, and fertility decline.
arxiv +1 more source
Disorders of sex development [PDF]
Best Practice & Research Clinical Obstetrics & Gynaecology, 2018 Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors. These factors regulate the commitment of the unipotential gonad into the binary pathways governing normal sex development. Typically, the presence of the SRY gene on the Y chromosome triggers the cascade of
openaire +3 more sources