Results 61 to 70 of about 1,586 (183)

A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [PDF]

The Turkish Journal of Pediatrics, 2016
Celiac disease (CD) is a chronic disease involving a number of systems in addition to gastrointestinal tract. Although not clear, it has been supposed that the neurological symptoms of CD develop due to immune-mediated mechanisms. In this paper, we present a rare case diagnosed with CD at 12 years of age, and presented with a clinical picture ...
Erhan Aksoy, Serap Tıraş-Teber, Gülhis Deda   +2 more
openaire   +3 more sources

Pregnancy in women with mitochondrial disease—A literature review and suggested guidance for preconception and pregnancy care

Australian and New Zealand Journal of Obstetrics and Gynaecology, Volume 65, Issue 1, Page 30-36, February 2025.
Mitochondrial donation to reduce the risk of primary mitochondrial disease transmission from mother to child is now permitted under Australian law as part of a clinical trial. The energy demands of pregnancy have the potential to worsen mitochondrial disease symptoms and severity in affected women.
Lisa Hui, Pema Hayman, Ali Buckland, Michael C Fahey, David A Mackey, Andrew J Mallett, Daniel R Schweitzer, Clare P Stuart, Wai Yan Yau, John Christodoulou   +9 more
wiley   +1 more source

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross‐sectional study

Clinical Genetics, Volume 106, Issue 6, Page 733-744, December 2024.
The epidemiological study of 1351 Chinese patients with mitochondrial disease reveals that the most prevalent phenotypes are mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes (MELAS), chronic progressive external ophthalmoplegia (CPEO), and Leigh syndrome. Additionally, the study identified several rare phenotypes.
Yang Zhao, Xutong Zhao, Kunqian Ji, Junling Wang, Yuying Zhao, Jie Lin, Qiang Gang, Meng Yu, Yun Yuan, Haishan Jiang, Chong Sun, Fang Fang, Chuanzhu Yan, Zhaoxia Wang   +13 more
wiley   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

Gene therapy for mitochondrial disorders

Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 145-175, January 2024.
Abstract In this review, we detail the current state of application of gene therapy to primary mitochondrial disorders (PMDs). Recombinant adeno‐associated virus‐based (rAAV) gene replacement approaches for nuclear gene disorders have been undertaken successfully in more than ten preclinical mouse models of PMDs which has been made possible by the ...
Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman   +3 more
wiley   +1 more source

Chronic intestinal pseudo‐obstruction in adults: A practical guide to identify patient subgroups that are suitable for more specific treatments

Neurogastroenterology &Motility, Volume 36, Issue 1, January 2024.
Abstract Chronic intestinal pseudo‐obstruction is a rare and heterogeneous syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine with air/fluid levels in the absence of any mechanical occlusive lesion.
Guido Basilisco, Margherita Marchi, Marina Coletta   +2 more
wiley   +1 more source

Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity [PDF]

, 2005
Ramón Martí, Jan J.G.M. Verschuuren, Alan L. Buchman, Ikuo Hirano, Saba Tadesse, André B. P. Kuilenburg, Albert H. Gennip, Ben J. H. M. Poorthuis, Michio Hirano   +8 more
openalex   +1 more source

Validation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy [PDF]

, 2018
Michelle Levene, Dario Pacitti, Charlotte Gasson, Jamie Hall, M. Sellos-Moura, Bridget E. Bax   +5 more
openalex   +1 more source

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement [PDF]

, 2013
Bridget E. Bax, Murray Bain, Mauro Scarpelli, Massimiliano Filosto, Paola Tonin, Nicholas Moran   +5 more
openalex   +1 more source