Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1053/j.gastro.2018.12.011 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis.
Gastroenterology
April 2019
INSERM U1016, CNRS UMR 8104, Université Paris 5, F-75014, Paris, France. Electronic address:
Gastrointestinal manifestations of mitochondrial disorders: a systematic review.
Therap Adv Gastroenterol
January 2017
First Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus, liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or obstruction of the GI tract, recurrent bowel perforations with intra-abdominal abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli.
View Article and Find Full Text PDFCognitive dysfunction in mitochondrial disorders.
Acta Neurol Scand
July 2012
Danube University Krems, Krems and Krankenanstalt Rudolfstiftung, Vienna, Austria.
Among the various central nervous system (CNS) manifestations of mitochondrial disorders (MIDs), cognitive impairment is increasingly recognized and diagnosed (mitochondrial cognitive dysfunction). Aim of the review was to summarize recent findings concerning the aetiology, pathogenesis, diagnosis and treatment of cognitive decline in MIDs. Among syndromic MIDs due to mitochondrial DNA (mtDNA) mutations, cognitive impairment occurs in patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes syndrome, myoclonus epilepsy with ragged-red fibres syndrome, mitochondrial chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, neuropathy, ataxia and retinitis pigmentosa syndrome and maternally inherited diabetes and deafness.
View Article and Find Full Text PDFAssociation of optic nerve hypoplasia with mitochondrial cytopathies.
J Child Neurol
November 2006
Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic Foundation, OH 44195, USA.
Ocular complications are common in the mitochondrial cytopathies and include optic atrophy and retinal degeneration. We retrospectively reviewed 80 patients with nonsyndromic mitochondrial cytopathies (ie, not Kearns-Sayre syndrome, myoclonus epilepsy associated with ragged red fibers [MERRF], mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes [MELAS], neuropathy ataxia and retinitis pigmentosa, Leigh disease, maternally inherited diabetes and deafness, and myoneurogastrointestinal disorder and encephalopathy) and found 10 cases of optic nerve hypoplasia. Optic nerve hypoplasia occurs in at least 12% of patients with nonsyndromic mitochondrial cytopathies.
View Article and Find Full Text PDF[Aspects of neuropathy in mitochondrial diseases].
Rev Neurol
September 2000
Servicio de Neurología, Hospital Sant Joan de Déu, Barcelona, España.
Introduction: The existence of neuropathy has been described in mitochondrial disorders such as MELAS, MERRF, Leigh's syndrome, the Kearns-Saye syndrome, myoneurogastro-intestinal encephalopathy and progressive external ophthalmoplegia and constitutes a basic component of the NARP (neuropathy, ataxia and retinosis pigmentosa). However, the general prevalence of the neuropathy and its characteristics within the mitochondrial encephalopathies is not well understood.
Objectives: To characterize the neuropathy and try to establish a genotype-phenotype correlation.