Results 81 to 90 of about 12,985,405 (284)

Leigh Disease

Iranian Journal of Child Neurology, 2013
Pls see PDF.
openaire   +1 more source

Tuberculosis in Malta : a case for sputum induction [PDF]

, 2013
Sputum induction is a procedure used to help patients expectorate samples of sputum for laboratory analysis. It is a simple, safe and standardised procedure which may avoid the use of more invasive and potentially harmful interventions such as fibreoptic
Farrugia, Brian
core  

Causes and assessment of faecal incontinence [PDF]

, 1999
Faecal incontinence remains a taboo subject and patients frequently conceal their symptoms, because of fear and embarrassment. Sensitive and appropriate assessment will encourage people to seek advice and treatment if required. This article discusses the
Chelvanayagam, Sonya
core   +1 more source

Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity [PDF]

, 2021
Ajibola B. Bakare, Joseph Dean, Qun Chen, Vedant Thorat, Yimin Huang, Thomas LaFramboise, Edward J. Lesnefsky, Shilpa Iyer   +7 more
openalex   +1 more source

Predicting six month follow‐up of suicidal thoughts and attempts among youth with anxiety presenting to an emergency department

JCPP Advances, EarlyView.
Abstract Background Previous research has established an association between anxiety disorders and suicidal thoughts and attempts; however, much remains unknown about the role of specific anxiety symptoms, anxiety severity, and the impact of co‐occurring depression and hopelessness.
Marianne G. Chirica, Lauren O’Reilly, Cheryl A. King, Steven A. Miller   +3 more
wiley   +1 more source

Mitochondrial cytopathy with rare double mutation of mitochondrial gene: one case report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To retrospectively analyze the clinical, imaging, pathological and genotypic characteristics of one case of mitochondrial cytopathy with rare double mutation of mitochondrial gene.
XU Tian, SHI Zhi-hong, ZHAO Wen-juan
doaj   +1 more source

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization

Research Involvement and Engagement
Background Leigh syndrome is a rare, progressive neurometabolic disorder caused by pathogenic variants in over 110 mitochondrial or nuclear genes. Its clinical and genetic heterogeneity creates challenges for diagnosis, care, and research.
Sophia Zilber, Melinda Burnworth, Titilola Afolabi, Jonathan R. Brestoff, Michal Minczuk, Alejandro Rodriguez Luis, Qinglan Ling, Alessandro Prigione, Isabella Tolle, Ibrahim Elsharkawi, Ethan Perlstein, Danielle Boyce, Simon Johnson, Kasey Woleben   +13 more
doaj   +1 more source

Schizophrenia-Like Psychotic Symptoms Associated to Leigh Syndrome

Case Reports in Psychiatry, 2023
Introduction. Leigh syndrome (LS) is a mitochondrial disease characterized by subacute necrotizing encephalomyelopathy with an estimated incidence of 1:40,000 births.
F. Jaballah, R. Ben Soussia Nouira, S. Mallouli, H. Boussaid, S. Younes, L. Zarrouk, S. Younes   +6 more
doaj   +1 more source

Large-scale analysis of disease pathways in the human interactome

, 2017
Discovering disease pathways, which can be defined as sets of proteins associated with a given disease, is an important problem that has the potential to provide clinically actionable insights for disease diagnosis, prognosis, and treatment ...
Agrawal, Monica, Leskovec, Jure, Zitnik, Marinka   +2 more
core   +1 more source

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. [PDF]

, 2006
Thousands die each year from sudden infant death syndrome (SIDS). Neither the cause nor basis for varied prevalence in different populations is understood.
Bowers, Peter N, Chen, Weidong, Goldstein, Steve AN, Kittles, Rick A, Liu, Qianyong, Morgan, Thomas, Plant, Leigh D, State, Matthew W, Zhang, Tingting   +8 more
core   +2 more sources