Results 21 to 30 of about 1,276 (185)

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo-obstruction. [PDF]

J Intern Med
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Boschetti E, Neri I, Caporali L, Bonora E, Malagelada C, Fiorini C, Ormanbekova D, Berghella A, D'Angelo R, Rinaldi R, Caliceti C, Costanzini A, Falconi M, Stanghellini V, Ratti S, Manzoli L, Carelli V, De Giorgio R.   +17 more
europepmc   +2 more sources

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

Journal of Inherited Metabolic Disease, 2002
AbstractWe report the presence of the unusual nucleoside deoxyuridine in the urine of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (MIM 603041) due to thymidine phosphorylase (TP:EC 2.4.2.4) deficiency. Thymidine, uracil and thymine were also elevated.
Fairbanks, L.D., Marinaki, A.M., Carrey, E.A., Hammans, S.R., Duley, J.A.   +4 more
openaire   +6 more sources

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo-obstruction: A case series. [PDF]

J Pediatr Gastroenterol Nutr
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Wolfson S, Butrviengpunt M, Tjaden N, Benitez AJ, Kota AS, Webster J, Kapavarapu P, Mousa H, Heuckeroth RO.   +8 more
europepmc   +2 more sources

MNGIE: Diarrhea and leukoencephalopathy [PDF]

Neurology, 2002
A 47-year-old man had muscular atrophy, cachexia, and chronic diarrhea since age 12. At 33, he presented progressive hearing loss, ophthalmoplegia, and bilateral ptosis. Extended leukoencephalopathy was seen on MRI (figure, A). Muscle biopsy found ragged-red fibers …
P, Labauge, R, Durant, G, Castelnovo, A, Dubois   +3 more
openaire   +2 more sources

Pregnancy in MNGIE: a clinical and metabolic honeymoon [PDF]

Annals of Clinical and Translational Neurology, 2020
AbstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an inherited disease caused by a deficiency in thymidine phosphorylase and characterized by elevated systemic deoxyribonucleotides and gastrointestinal (GI) and neurological manifestations.
Pappalardo, Pauline, Benoist, Jean‐françois, Bax, Bridget, Carra‐dallière, Clarisse, Marelli, Cecilia, Levene, Michele, Begue, Laetitia, Rolland, Anne, Flori, Nicolas, Rivier, Francois, Blanchet, Catherine, Munnich, Arnold, Altwegg, Romain, Meyer, Pierre, Roubertie, Agathe   +14 more
openaire   +2 more sources

Regional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report

Brazilian Journal of Anesthesiology, 2021
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal-recessive disorder which is due to mutations in TYMP. The case reported here is of an 18-year-old male with MNGIE syndrome who presented for two different operations on two
Tayfun Sugur, Hayri Fatih Metinyurt, Ali Sait Kavakli, Nilgun Kavrut Ozturk, Sadik Ozmen   +4 more
doaj   +1 more source

Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations

Annals of Indian Academy of Neurology, 2019
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ...
Hongyan Huang, Xinglong Yang, Ling Liu, Yanming Xu   +3 more
doaj   +1 more source

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

, 2013
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive metabolic disorder caused by a deficiency of thymidine phosphorylase (TP, EC2.4.2.4) due to mutations in the nuclear gene TYMP.
Bax, BE, Tonin, P, Bax B. E., Moran N., SCARPELLI, Mauro, Tonin P., Scarpelli M., Filosto M., Bain, MD, TONIN, PAOLA, Scarpelli, M, Filosto, M, Moran, N, Bain M. D.   +13 more
core   +1 more source

Mitochondrial Neurogastrointestinal Encephalopathy Disease: A Rare Disease Diagnosed in Siblings with Double Vision

Case Reports in Ophthalmology, 2021
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal recessive condition characterized by gastrointestinal dysmotility, external ophthalmoplegia, leukoencephalopathy, and sensorimotor neuropathy.
Armin Farahvash, Charles D. Kassardjian, Jonathan A. Micieli   +2 more
doaj   +1 more source

The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG‐related disorders

IUBMB Life, Volume 75, Issue 12, Page 983-1002, December 2023., 2023
Abstract Most eukaryotes possess a mitochondrial genome, called mtDNA. In animals and fungi, the replication of mtDNA is entrusted by the DNA polymerase γ, or Pol γ. The yeast Pol γ is composed only of a catalytic subunit encoded by MIP1. In humans, Pol γ is a heterotrimer composed of a catalytic subunit homolog to Mip1, encoded by POLG, and two ...
Alexandru Ionut Gilea, Martina Magistrati, Ilenia Notaroberto, Natascia Tiso, Cristina Dallabona, Enrico Baruffini   +5 more
wiley   +1 more source