Results 1 to 10 of about 302 (96)

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

Case Reports in Gastrointestinal Medicine, 2021
MMIHS, also known as Berdon’s syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms ...
Mikołaj Danko, Ignasiak-Budzyńska Katarzyna, Janusz Ksiazyk   +2 more
exaly   +2 more sources

Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) due to a de novo ACTG2 mutation: A neonatal case report [PDF]

Intestinal Failure
Background: Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital visceral myopathy characterized by severe gastrointestinal dysmotility and bladder dysfunction, most commonly associated with ACTG2-mutations. Case report:
Tommaso Amato, Michele Maria Cantagalli, Marco Di Mitri, Riccardo Coletta, Antonino Morabito   +4 more
doaj   +2 more sources

Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study [PDF]

Orphanet Journal of Rare Diseases
Background Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare genetic visceral myopathy, with a historically high mortality rate. Its genetic and phenotypic variability and management options remain poorly characterized.
Johannes Hilberath, Ilias Tsiflikas, Anna Sanders, Justus Lieber, Tobias Luithle, Tobias B. Haack, Ekkehard Sturm, Jörg Fuchs, Steven Warmann, Christoph Slavetinsky   +9 more
doaj   +2 more sources

Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted [PDF]

Frontiers in Pediatrics
IntroductionThe diagnostic odyssey in rare diseases often involves the misinterpretation of genetic data, particularly when multidisciplinary approaches are lacking.
Minerva Montero-Hernández, Minerva Montero-Hernández, Nahuel Pérez-Moix, Nahuel Pérez-Moix, María-Carmen Carrascosa-Romero, María-Pilar López-Garrido, María-Pilar López-Garrido, Francisco Sánchez-Sánchez, Francisco Sánchez-Sánchez   +8 more
doaj   +2 more sources

Fertility intentions and influencing factors among women of reproductive age in Madhesh Province, Nepal: a population-based analysis of the 2022 Nepal demographic health survey [PDF]

Reproductive Health
Background Fertility intentions or desires for future childbearing are necessary variables in understanding reproductive behavior, particularly in transitioning societies like Nepal.
Bijaya Mani Devkota, Suman Chandra Gurung, Amshu Dhakal   +2 more
doaj   +2 more sources

Assessment of sports injury knowledge and preventive practices among national-level professional cricket players in nepal: a cross-sectional study [PDF]

BMC Sports Science, Medicine and Rehabilitation
Background Professional cricket players are at significant risk for injuries, yet research on injury prevention knowledge and practices in Nepal is limited.
Mobin Pandey, Rajan Bhusal, Aashish Acharya, Shreesti Sharma, Niraj Bhattarai, Alisha Acharya, Shambhu Jamarkattel, Amit Joshi   +7 more
doaj   +2 more sources

Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

Taiwanese Journal of Obstetrics and Gynecology
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band ...
Chih-Ping Chen
exaly   +3 more sources

Modified Martin Procedure for Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) [PDF]

Indian Journal of Pediatrics
Li Tian, Donghai Yu
exaly   +2 more sources

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Berdon’s syndrome - First Report in Romania [PDF]

Modern Medicine, 2023
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare motility disorder with high mortality rate described by Berdon in 1976.
Mihaela BIZUBAC, Luminita NINE, Andrada GEORGESCU, Loredana POPA, Andrei CAPITANESCU, Sebastian IONESCU, Carmen HERISEANU, Catalin CIRSTOVEANU   +7 more
doaj   +1 more source

Imaging findings of a twin male neonate with megacystis microcolon intestinal hypoperistalsis syndrome

Radiology Case Reports, 2021
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital defect of the bowel and bladder that is especially rare in males.
Jennifer Lim, BS, Jack Hua, MD, Christopher Arcement, MD   +2 more
doaj   +1 more source