Results 61 to 70 of about 6,089,967 (287)

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

Mitochondrial complex I deficiency leads to the retardation of early embryonic development in Ndufs4 knockout mice [PDF]

PeerJ, 2017
Background The NDUFS4 gene encodes an 18-kD subunit of mitochondria complex I, and mutations in this gene lead to the development of a severe neurodegenerative disease called Leigh syndrome (LS) in humans.
Mei Wang, Ya-Ping Huang, Han Wu, Ke Song, Cong Wan, A-Ni Chi, Ya-Mei Xiao, Xiao-Yang Zhao   +7 more
doaj   +2 more sources

Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome [PDF]

, 2017
Barth syndrome (BTHS) is an X‐linked condition characterized by altered cardiolipin metabolism and cardioskeletal myopathy. We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with BTHS and unaffected
Altschuld, American College of Sports Medicine, Bahi, Barth, Bashir, Bione, Bissler, Cade, Cade, Chance, Chance, Conway, Edwards, El-Sharkawy, Gomez, Gonzalvez, Hiona, Hom, Hudsmith, Ingwall, Kemp, Kemp, Kemp, Kemp, Kushmerick, Lang, Lanza, Lanza, Larson-Meyer, Layec, Liu, Matthews, Meyer, Meyer, Minotti, Naressi, Nascimben, Neubauer, Powers, Ratel, Roussel, Sapega, Schlame, Sgobbo, Smith, Spencer, Spencer, Spoladore, Takahashi, Taylor, Taylor, Thaveau, Thompson, Tonson, Vanhamme, Wang, Wasserman, Waters, Xu, Yao, Zhang, Zoll   +61 more
core   +2 more sources

Genotype‐phenotype analysis of MT‐ATP6‐associated Leigh syndrome

Acta Neurologica Scandinavica, 2021
Mitochondrial DNA (mtDNA)‐associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes.
Ji-Hoon Na, Young-Mock Lee
semanticscholar   +1 more source

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Brain : a journal of neurology, 2022
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh ...
S. L. Stenton, M. Tesařová, N. Sheremet, C. Catarino, V. Carelli, E. Ciara, K. Curry, M. Engvall, Leah R Fleming, P. Freisinger, K. Iwanicka-Pronicka, E. Jurkiewicz, T. Klopstock, M. Koenig, H. Kolářová, B. Kousal, T. Krylova, C. La Morgia, Lenka Nosková, D. Piekutowska-Abramczuk, S. N. Russo, V. Stránecký, I. Tóthová, F. Träisk, H. Prokisch   +24 more
semanticscholar   +1 more source

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Endocrine Regulations, 2018
Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings ...
Danis Daniel, Brennerova Katarina, Skopkova Martina, Kurdiova Timea, Ukropec Jozef, Stanik Juraj, Kolnikova Miriam, Gasperikova Daniela   +7 more
doaj   +1 more source

Sub-cortical and brainstem sites associated with chemo-stimulated increases in ventilation in humans [PDF]

, 2010
We investigated the neural basis for spontaneous chemo-stimulated increases in ventilation in awake, healthy humans. Blood oxygen level dependent (BOLD) functional MRI was performed in nine healthy subjects using T2weighted echo planar imaging.
Ackland, Akopyan, Banzett, Bertrand, Bianchi, Brannan, Cavanna, Cechetto, Chamberlin, Chamberlin, Chen, Colebatch, Corfield, Corfield, Critchley, Dick, Douglas, Douglas, Douglas R. Corfield, Duvernoy, Duvernoy, Evans, Evans, Fink, Fink, Friston, Friston, Gandevia, Gaytan, Gray, Haines, Harper, Herbert, Heywood, Hugo D. Critchley, Isaev, Kevin Murphy, Kjaer, Koos, Kubin, Kumar, Lavezzi, Leanne C. McKay, Macey, McKay, McKay, McKay, Middleton, Mink, Nathan, Pattinson, Peiffer, Plum, Plum, Ramsay, Richard S.J. Frackowiak, Schmahmann, Schwarzacher, Severinghaus, Shea, Skatrud, Smith, Smith, Talairach, Wenninger, Worsley, Xu, Yokota   +67 more
core   +2 more sources

Spectrum of Magnetic Resonance Abnormalities in Leigh Syndrome with Emphasis on Correlation of Diffusion-Weighted Imaging Findings with Clinical Presentation

Annals of African medicine, 2022
Background: Leigh syndrome (LS) is a progressive neurodegenerative disorder of infancy/early childhood secondary to mitochondrial dysfunction. Imaging plays a pivotal role in the diagnosis of LS with certain typical magnetic resonance imaging (MRI ...
C. Kakkar, Seema A. Gupta, S. Kakkar, Kamini Gupta, K. Saggar   +4 more
semanticscholar   +1 more source

Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome [PDF]

, 2003
Background: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle ...
Burgdorf, Walter H. C., Itin, Peter H., Lautenschlager, Stephan, Rohwedder, A., Schaller, Jörg   +4 more
core   +1 more source

Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology [PDF]

, 2020
Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN.
Al-Chalabi, Ammar, Albertí Aguilo, Maria A., Anderson, Stuart J., Barritt, Andrew W., Bella, Eleonora Dalla, Broad, Rebecca, De Boer, Eva M.J., De Souza, Paulo V.S., Elamin, Marwa, Goedee, H. Stephan, Harschnitz, Oliver, Lauria, Giuseppe, Leigh, Peter N., Nisbet, Angus, Oliveira, Acary S.B., Pardo Fernandez, Julio, Parson, Malu, Pinto, Wladimir B.V.R., Povedano Panades, Mónica, Prudlo, Johannes, Toro, Camilo, Van Den Berg, Leonard H., Van Es, Michael A., Van Iersel, Joost, Vedeler, Christian A., Veldink, Jan H., Vázquez Costa, Juan F.   +26 more
core   +3 more sources