Results 81 to 90 of about 3,123,862 (240)
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown.
Robin W. van Steenhoven +14 more
wiley +1 more source
Jurnal Psikologi Undip, 2019 This study aims to explore coping strategies used by parents’ of children with mosaic sex chromosome Disorders of Sex Development (DSD). The study applied the sequential explanatory mixed-methods approach that collected quantitative data prior to ...
Iit Fitrianingrum +2 more
doaj +1 more source
Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)
Annals of Clinical and Translational Neurology, EarlyView.Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly +9 more
wiley +1 more source
International Brazilian Journal of Urology, 2012 PURPOSE:To assess the use of sigmoid colon in vaginal reconstruction of some patients with disorders of sex development. MATERIALS AND METHODS: The study included 31 patients with disorders of sex development of various causes. All were reared as females.
A Nowier, M Esmat, RT Hamza
doaj +1 more source
Exploring the effect of sex on an empirical fitness landscape [PDF]
American Naturalist 174 (2009) S15-S30 (with substantial
revisions), 2008 The nature of epistasis has important consequences for the evolutionary significance of sex and recombination. Recent efforts to find negative epistasis as source of negative linkage disequilibrium and associated long-term sex advantage have yielded little support.
arxiv
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks +20 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACTObjectiveCerebrospinal fluid (CSF) orexin‐A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin‐A is positively associated with CSF Aβ42, p‐tau181, and total tau (t‐tau) concentrations.
Ruijin Lu +13 more
wiley +1 more source
Management framework paradigms for disorders of sex development
Archives of Endocrinology and Metabolism, 2015 Until 2005, questions regarding medical treatment and diagnostic information on Disorders of Sex Development (DSD) were not systematically discussed with both the patients and their families; however, the way these patients are currently treated have ...
Mariana Telles-Silveira +2 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn +17 more
wiley +1 more source
Criteria of Clinical Diagnostics and Choice of Treatment Strategy in Children with Disoders of Sexual Development [PDF]
Саратовский научно-медицинский журнал, 2010 The number of patients with disorders of sexual development (DSD) has increased in 3.54 times during the last three years. The aim is to define the structure of intersexual disorders in children from Saratov, criteria of gender assignment and surgical ...
N.V. Bolotova +5 more
doaj