Results 131 to 140 of about 12,985,405 (284)

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 more sources

Health Economic Considerations for the Implementation of Artificial Intelligence‐Enabled Diabetic Retinopathy Screening: A Review

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Artificial intelligence (AI) has comparable accuracy to ophthalmologists for diabetic retinopathy (DR) screening, yet its cost‐effectiveness is crucial for implementation. Our review of 18 health economic analyses of AI versus manual grading for DR found significant methodological variation, with cost‐utility analysis and Markov modelling ...
James Leigh, Jocelyn Drinkwater, Angus Turner, Elizabeth‐Ann Schroeder   +3 more
wiley   +1 more source

CASE REPORT
Leigh disease: 9 years follow up of a Polish family harboring T8993C mitochondrial DNA mutation

Archives of Medical Science, 2005
Leigh disease (LD) or subacute necrotizing encephalomyelopathy (SNE) is a mitochondrial dysfunction. It can be caused by either mitochondrial or nuclear DNA mutations, which impair communication of the complexes of the human electron transporting chain ...
Bartłomiej Kisiel, Lech Korniszewski, Łukasz A. Małek   +2 more
doaj  

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant

Children
Leigh syndrome is a rare, progressive mitochondrial disorder of childhood. Early diagnosis is often challenging due to nonspecific clinical manifestations.
Minsoo Jeon, Shin-seung Yang, Sera Lee, Ja Young Choi   +3 more
doaj   +1 more source

Clonal expansion within pneumococcal serotype 6C after use of seven-valent vaccine [PDF]

, 2013
Streptococcus pneumoniae causes invasive infections, primarily at the extremes of life. A seven-valent conjugate vaccine (PCV7) is used to protect against invasive pneumococcal disease in children.
Chan, Jacqueline, Clarke, Stuart C, Constantinidou, Chrystala, Faust, Saul N, Gladstone, Rebecca A, Jefferies, Johanna M C, Loman, Nicholas, Loman, Nicholas J, O'Connor, Leigh, Pallen, Mark J, Tocheva, Anna S   +10 more
core   +2 more sources

Pioglitazone Ameliorates Mitochondrial Oxidative Stress and Inflammation via AMPK‐Dependent Inhibition of Mitochondrial Fission in Leigh Syndrome

Cell Proliferation, EarlyView.
Pioglitazone suppresses mitochondrial excessive ROS generation and COX‐2 level through inhibition of Drp‐1 mediated mitochondrial fission in an AMPK‐dependent manner in LS. ABSTRACT Loss of function mutations of NDUFS4 resulted in Leigh syndrome, which is a progressive neurodegenerative disease and characterized by mitochondrial oxidative stress ...
Jie Luo, Ling Chen, Xiaoxian Zhang, Qiang Su, Xiaoya Zhou, Qizhou Lian   +5 more
wiley   +1 more source

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil

Arquivos de Neuro-Psiquiatria
Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups:
Gabriela Palhares Campolina-Sampaio, Laura Maria de Lima Belizário Facury Lasmar, Beatriz Silva Vilela Ribeiro, Juliana Gurgel Giannetti   +3 more
doaj   +1 more source

Mortality from infectious pneumonia in metal workers: a comparison with deaths from asthma in occupations exposed to respiratory sensitizers [PDF]

, 2009
Introduction: national analyses of mortality in England and Wales have repeatedly shown excess deaths from pneumonia in welders. During 1979-1990 the excess was attributable largely to deaths from lobar pneumonia and pneumonias other than ...
Brown, Terry, Coggon, David, Cullinan, Paul, Palmer, Keith T., Rice, Simon   +4 more
core   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency

Nature Communications, 2016
Mitochondrial complex I deficiency is the most common respiratory chain defect in mitochondrial disease in children and currently there is no effective treatment.
Johannes K. Ehinger, Sarah Piel, Rhonan Ford, Michael Karlsson, Fredrik Sjövall, Eleonor Åsander Frostner, Saori Morota, Robert W. Taylor, Doug M. Turnbull, Clive Cornell, Steven J. Moss, Carsten Metzsch, Magnus J. Hansson, Hans Fliri, Eskil Elmér   +14 more
doaj   +1 more source