Results 31 to 40 of about 117,949 (253)

Defining an epidemic:The body mass index in British and American obesity research 1960-2000 [PDF]

open access: yes, 2014
Between the 1970s and the mid‐1990s the body mass index (BMI) became the standard means of assessing obesity both in populations and in individuals, replacing previously diverse and contested definitions of excess body weight.
Amsterdamska   +70 more
core   +1 more source

Disease and psychological status in ankylosing spondylitis. [PDF]

open access: yes, 2006
Objectives. Psychological factors may be important in the assessment and management of ankylosing spondylitis (AS). Our primary objective was to describe associations between disease and psychological status in AS, using AS-specific assessment tools and ...
Goodacre, J. A.   +5 more
core   +1 more source

Self-replicative mRNA-mediated generation of induced pluripotent stem cell line from a 1-year-old Leigh syndrome patient with mitochondrial DNA cytochrome b mutation

open access: yesStem Cell Research, 2021
Leigh syndrome is a progressive neurodegenerative disease due to defects in the mitochondrial genes, including mitochondrial DNA cytochrome b (MTCYB) mutation, that typically begins in infancy or early childhood.
Daryeon Son   +3 more
doaj   +1 more source

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

open access: yesFrontiers in Neurology, 2019
Background: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system.
Sunho Lee   +3 more
doaj   +1 more source

Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report

open access: yesArchives of Academic Emergency Medicine, 2017
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi   +3 more
doaj   +1 more source

Leigh Syndrome: A Tale of Two Genomes

open access: yesFrontiers in Physiology, 2021
Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity.
Ajibola B. Bakare   +4 more
doaj   +1 more source

Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature

open access: yesClinical Case Reports, 2022
Isoleucyl‐tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine‐tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease.
Jariya Upadia   +5 more
doaj   +1 more source

Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults. [PDF]

open access: yes, 2019
Thiamine (vitamin B1) is an essential nutrient that serves as a cofactor for a number of enzymes, mostly with mitochondrial localization. Some thiamine-dependent enzymes are involved in energy metabolism and biosynthesis of nucleic acids whereas others ...
Adams   +154 more
core   +2 more sources

Leigh syndrome: A rare mitochondrial disorder

open access: yesBangabandhu Sheikh Mujib Medical University Journal, 2016
Leigh syndrome is a rare, mitochondrial disorder of childhood . In most cases dysfunction of the respiratory chain enzymes is responsible for the disease. Raised lactate levels in blood and/or cerebrospinal fluid is noted.
Gopen Kumar Kundu   +3 more
doaj   +1 more source

Leigh syndrome global patient registry: uniting patients and researchers worldwide

open access: yesOrphanet Journal of Rare Diseases, 2023
Background Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA.
Sophia Zilber   +10 more
doaj   +1 more source

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