The Experts below are selected from a list of 54 Experts worldwide ranked by ideXlab platform
Cetin Kocaefe - One of the best experts on this subject based on the ideXlab platform.
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chronic intestinal pseudo obstruction and neurological manifestations in early adulthood considering MNGIE Syndrome in differential diagnosis
Journal of Gastrointestinal and Liver Diseases, 2010Co-Authors: Erkin Oztas, Yasemin Ozin, Fatih Oguz Onder, Ibrahim Koral Onal, Dilek Oguz, Cetin KocaefeAbstract:The mitochondrial neurogastrointestinal encephalomyopathy Syndrome (MNGIE) is a rare and life-threatening, autosomal recessive, multisystem disorder, caused by the mutations in the thymidine phosphorylase gene. Herein, we report a case of a 21 year-old male with a long history of intestinal pseudo-obstruction who was diagnosed with MNGIE Syndrome after an extensive examination. In this case, our objective was to bring the gastroenterologist's attention to this difficult to diagnose Syndrome in the coexistence of intestinal pseudo-obstruction and neurologic manifestations. The patient was a member of a consanguineous family of six children, in whom two sisters had died due to this disorder and one sister was affected and is still alive. The patient presented with cachexia, abdominal pain, diarrhea and muscle weakness, and was previously considered to have gluten sensitive enteropathy and treated with dietary solutions.
Victor L Fox - One of the best experts on this subject based on the ideXlab platform.
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diagnosis and management of MNGIE Syndrome in children case report and review of the literature
Journal of Pediatric Gastroenterology and Nutrition, 2002Co-Authors: Jonathan E Teitelbaum, Charles B Berde, Samuel Nurko, Carlo Buonomo, Antonio R Perezatayde, Victor L FoxAbstract:Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Syndrome is a rare disorder that presents in childhood; however, marked delay in diagnosis is common. We report a case and review the literature describing the typical features that should alert pediatricians to the diagnosis. We also describe a novel management strategy for providing symptomatic relief.
Erkin Oztas - One of the best experts on this subject based on the ideXlab platform.
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chronic intestinal pseudo obstruction and neurological manifestations in early adulthood considering MNGIE Syndrome in differential diagnosis
Journal of Gastrointestinal and Liver Diseases, 2010Co-Authors: Erkin Oztas, Yasemin Ozin, Fatih Oguz Onder, Ibrahim Koral Onal, Dilek Oguz, Cetin KocaefeAbstract:The mitochondrial neurogastrointestinal encephalomyopathy Syndrome (MNGIE) is a rare and life-threatening, autosomal recessive, multisystem disorder, caused by the mutations in the thymidine phosphorylase gene. Herein, we report a case of a 21 year-old male with a long history of intestinal pseudo-obstruction who was diagnosed with MNGIE Syndrome after an extensive examination. In this case, our objective was to bring the gastroenterologist's attention to this difficult to diagnose Syndrome in the coexistence of intestinal pseudo-obstruction and neurologic manifestations. The patient was a member of a consanguineous family of six children, in whom two sisters had died due to this disorder and one sister was affected and is still alive. The patient presented with cachexia, abdominal pain, diarrhea and muscle weakness, and was previously considered to have gluten sensitive enteropathy and treated with dietary solutions.
Nereo Bresolin - One of the best experts on this subject based on the ideXlab platform.
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partial depletion and multiple deletions of muscle mtdna in familial MNGIE Syndrome
Neurology, 1998Co-Authors: A Papadimitriou, Giacomo P Comi, Georgios M Hadjigeorgiou, Andreina Bordoni, M Sciacco, L Napoli, A Prelle, M Moggio, Gigliola Fagiolari, Nereo BresolinAbstract:Objective: To describe the unique combination of partial depletion and multiple deletions of mitochondrial DNA (mtDNA) on muscle DNA analysis of three siblings with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Background: MNGIE is a relatively homogeneous autosomal recessive disorder characterized by gastrointestinal dysmobility, ophthalmoparesis, peripheral neuropathy, mitochondrial myopathy, and altered white matter signal at brain imaging. Muscle multiple mtDNA deletions have been found in about half of the described cases. Methods: We studied three affected siblings (two were monozygotic twins) born to nonconsanguineous parents. Muscle mtDNA was investigated by quantitative Southern and Slot blot techniques and by PCR analysis. Morphologic confirmation in the muscle tissue was achieved by using in situ hybridization with a mtDNA probe complementary to an undeleted region and by DNA immunohistochemistry. Results: All three patient showed ragged red (RRF) and cytochrome c oxidase-negative fibers, as well as partial deficiency of complexes I and IV. Southern and Slot blot analyses showed mtDNA depletion in all patients. Multiple mtDNA deletions were also detected by PCR analysis. In situ hybridization demonstrated an overall signal weaker than controls, with a relatively higher signal in RRF. Antibodies against DNA showed a decreased cytoplasmic network. Conclusions: The muscle histopathology and respiratory chain enzyme defects may be accounted for by the decreased mtDNA amount and by the presence of mtDNA deleted molecules; however, relative levels of mtDNA seem to correlate with life span in these patients. The combination of partial depletion and multiple deletions of mtDNA might indicate the derangement of a common genetic mechanism controlling mtDNA copy number and integrity.
Ibrahim Koral Onal - One of the best experts on this subject based on the ideXlab platform.
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chronic intestinal pseudo obstruction and neurological manifestations in early adulthood considering MNGIE Syndrome in differential diagnosis
Journal of Gastrointestinal and Liver Diseases, 2010Co-Authors: Erkin Oztas, Yasemin Ozin, Fatih Oguz Onder, Ibrahim Koral Onal, Dilek Oguz, Cetin KocaefeAbstract:The mitochondrial neurogastrointestinal encephalomyopathy Syndrome (MNGIE) is a rare and life-threatening, autosomal recessive, multisystem disorder, caused by the mutations in the thymidine phosphorylase gene. Herein, we report a case of a 21 year-old male with a long history of intestinal pseudo-obstruction who was diagnosed with MNGIE Syndrome after an extensive examination. In this case, our objective was to bring the gastroenterologist's attention to this difficult to diagnose Syndrome in the coexistence of intestinal pseudo-obstruction and neurologic manifestations. The patient was a member of a consanguineous family of six children, in whom two sisters had died due to this disorder and one sister was affected and is still alive. The patient presented with cachexia, abdominal pain, diarrhea and muscle weakness, and was previously considered to have gluten sensitive enteropathy and treated with dietary solutions.