Results 71 to 80 of about 50,342 (212)

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation

Molecular Genetics and Metabolism Reports, 2016
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy.
Miguel Chuquilin, Raghav Govindarajan, Dawn Peck, Esperanza Font-Montgomery   +3 more
doaj   +1 more source

A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report

Molecular Genetics & Genomic Medicine, 2022
Background The NADH:ubiquinone oxidoreductase complex assembly factor gene (NDUFAF5) has been linked to the occurrence of Leigh syndrome, but few causative mutations have been identified. Here we report a rare case of Leigh syndrome in an infant who died
Yan Wen, Guoyan Lu, Lina Qiao, Yifei Li
doaj   +1 more source

Genetic Diversity and Impacts of Stocking on Cyprinus carpio Populations in Türkiye: Insights From Mitochondrial, Nuclear, and Microsatellite Markers

Fisheries Management and Ecology, EarlyView.
ABSTRACT Understanding genetic diversity and population structure is essential for the sustainable management of widely stocked freshwater species such as common carp (Cyprinus carpio). In this study, we conducted a comprehensive genetic assessment of C.
Meryem Cansu Yesiltaş, Rafet Çağrı Öztürk, Emre Keskin, Ilhan Altinok   +3 more
wiley   +1 more source

Leigh syndrome: A rare mitochondrial disorder

Bangabandhu 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, Amina Akhter, Shaheen Akhter, Md. Mizanur Rhaman   +3 more
doaj   +1 more source

Clinical syndromes associated with Coenzyme Q10 deficiency. [PDF]

, 2018
Primary Coenzyme Q deficiencies represent a group of rare conditions caused by mutations in one of the genes required in its biosynthetic pathway at the enzymatic or regulatory level.
Alc\ue1zar-Fabra, Maria, Brea-Calvo, Gloria, Trevisson, Eva   +2 more
core   +1 more source

Reversible cerebral vasoconstriction syndrome: A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objectives/Background This review summarizes current insights into Reversible cerebral vasoconstriction syndrome (RCVS) diagnosis, management, and outcomes. RCVS is a cerebrovascular disorder characterized by recurrent thunderclap headaches and transient segmental vasoconstriction of cerebral arteries, typically resolving within 3 months ...
Ícaro Araújo de Sousa, Abner da Silva Machado, Arthur de Oliveira Veras, Thiago Oscar Goulart, Sarah Galassi Tatsuta, Trajano Aguiar Pires Gonçalves, Eva Rocha, Octávio Marques Pontes‐Neto   +7 more
wiley   +1 more source

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

Annual Research Review: What processes are dysregulated among emotionally dysregulated youth? – a systematic review

Journal of Child Psychology and Psychiatry, Volume 66, Issue 4, Page 516-546, April 2025.
Proliferation of the term “emotion dysregulation” in child psychopathology parallels the growing interest in processes that influence negative emotional reactivity. While it commonly refers to a clinical phenotype where intense anger leads to behavioral dyscontrol, the term implies etiology because anything that is dysregulated requires an impaired ...
Joseph C. Blader, Amy S. Garrett, Steven R. Pliszka   +2 more
wiley   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism

The Journal of Clinical Investigation
Leigh syndrome is the most common inherited mitochondrial disease in children and is often fatal within the first few years of life. In 2020, mutations in the gene encoding sulfide:quinone oxidoreductase (SQOR), a mitochondrial protein, were identified ...
Eiki Kanemaru, Kakeru Shimoda, Eizo Marutani, Masanobu Morita, Maria Miranda, Yusuke Miyazaki, Claire Sinow, Rohit Sharma, Fangcong Dong, Donald B. Bloch, Takaaki Akaike, Fumito Ichinose   +11 more
doaj   +1 more source