Results 111 to 120 of about 27,503 (244)

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. [PDF]

J Inherit Metab Dis, 2020
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR, Banerjee R, Haack TB, Van Hove JLK.   +20 more
europepmc   +1 more source

A guide to diagnosis and treatment of Leigh syndrome

, 2013
Contains fulltext : 127558.pdf (Publisher’s version ) (Open Access)Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. However, also late-onset cases have been reported.
Baertling, F., Smeitink, J.A., Koopman, W.J., Morava, E., Schaper, J., Distelmaier, F., Rodenburg, R.J., Koopman, W.J.H., Morava, Eva, Smeitink, J., Mayatepek, E.   +10 more
core   +1 more source

Diagnosing primary ciliary dyskinesia in Australian adults: 10 years of testing

Internal Medicine Journal, EarlyView.
Abstract Primary ciliary dyskinesia (PCD) is a rare inherited disorder characterised by impaired ciliary function, leading to chronic upper and lower airway disease from early life. Limited awareness of the condition contributes to delayed diagnosis, with some individuals first diagnosed in adulthood following specialised testing. We describe 91 adults
P. J. Robinson
wiley   +1 more source

Who are people with disabilities [PDF]

This session of Grand Rounds explored opportunities for optimal quality of life for individuals with disabilities. One in 6 adult Americans lives with a disability when defined by a limitation in function.
Centers for Disease Control and Prevention (U.S.) Office of the Associate Director for Communication.
core   +1 more source

Social Isolation and Loneliness Among Older Asian Immigrants Through the Lens of Sense of Coherence: Systematic Review of Qualitative Studies

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aim To explore the meaning older Asian immigrants attribute to social isolation and loneliness, their management strategies, utilisation of resources and impact on health. Design Systematic review of qualitative studies. Data Sources AgeLine, CINAHL, MEDLINE, ProQuest, PsycINFO, Scopus, and Web of Science databases were searched in September ...
Della Maneze, Brandon W. Smith, Hadwan Aldahmashi, Alex Chan, Lucie Ramjan, Jed Montayre, Joby Alex, Yenna Salamonson   +7 more
wiley   +1 more source

A novel mutation in the Surf1 gene in a child with leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

, 2002
We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive
Minetti C., Bado M., Greco M., Lamba L. D., Rossi A., Bruno C., Biancheri R., Garavaglia B., Zeviani M., Biedi C.   +9 more
core   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Environmental Stress Drives Plasticity in Sexual Bimaturism in the Black Soldier Fly (Hermetia illucens Linnaeus, 1758)

Entomologia Experimentalis et Applicata, Volume 174, Issue 7, Page 736-749, July 2026.
We measured the plasticity in sexual bimaturism (SBM; differences between sexes in the timing of sexual maturity) in the black soldier fly (BSF) by exposing larvae to nutrient availability and humidity stress. Our results show that SBM can range between protandry and protogyny depending on the environmental quality. Additionally, we found the degree of
Luis Rodrigo Arce‐Valdés, Hayat Mahdjoub, Jordi Vilanova, Carlos López‐Manzano, Rassim Khelifa   +4 more
wiley   +1 more source

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome

Frontiers in Pediatrics
BackgroundThe MRPS36 gene encodes the E4 subunit of the 2-oxoglutarate dehydrogenase complex (OGDHC), a critical enzyme in the tricarboxylic acid cycle. OGDHC deficiency can lead to metabolic disorders with a clinical spectrum ranging from fatal neonatal
Huafang Jiang, Huafang Jiang, Chaolong Xu, Zhimei Liu, Ruoyu Duan, Xingfeng Yao, Xiaona Fu, Jiatong Xu, Xuejing Kang, Tenghui Yu, Yuanyuan Wang, Fang Fang   +11 more
doaj   +1 more source

Global survey on the utilisation and experiences with different retrobulbar anaesthesia techniques in horses

Equine Veterinary Journal, Volume 58, Issue 4, Page 1091-1102, July 2026.
Abstract Background Retrobulbar anaesthesia (RBA) is relevant for ocular surgery in standing sedated horses. Objectives Gathering insights on experiences with RBA techniques. Study Design Cross‐sectional survey. Methods An online survey collected information on the respondents' professional background, indications, injection methods, use of ultrasound ...
Simona Lieberth, Katharina Thieme, Christian Dancker, Roswitha Merle, Johanna Corinna Eule   +4 more
wiley   +1 more source