Results 1 to 10 of about 1,807 (148)

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   +3 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   +3 more sources

Obstructive or non-obstructive megacystis: a prenatal dilemma [PDF]

Frontiers in Pediatrics
IntroductionDiagnosis of prenatal megacystis has a significant impact on the pregnancy, as it can have severe adverse effects on fetal and neonatal survival and renal and pulmonary function.
Martina Mandaletti, Martina Mandaletti, Elisa Cerchia, Elena Ruggiero, Elena Ruggiero, Elisabetta Teruzzi, Simona Bastonero, Annasilvia Pertusio, Marcello Della Corte, Marcello Della Corte, Andrea Sciarrone, Simona Gerocarni Nappo   +11 more
doaj   +3 more sources

Chromosomal abnormalities associated with fetal megacystis

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   +4 more sources

Pop-off mechanisms in fetal megacystis: extravasation, umbilical cord cyst, ureterocele and megaureter. [PDF]

Ultrasound Obstet Gynecol
To analyze comprehensively the incidence, antenatal ultrasound characteristics and prognostic implications of antenatal pop‐off mechanisms of the fetal urinary system in pregnancies with suspected fetal megacystis.
Brinkman LAM, Duin LK, Adama van Scheltema PN, Cohen-Overbeek TE, Pajkrt E, Bekker MN, Willekes C, Verweij EJT, Bilardo C, Fontanella F.   +9 more
europepmc   +2 more sources

Defying the Odds: A Case Report of ACTG2-Related Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome With Complete Recovery. [PDF]

Cureus
Visceral myopathy is a rare and complex congenital disorder primarily impacting the gastrointestinal and urologic systems. Among its manifestations, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) represents the most severe form ...
Almoosa N, Alshehabi N, Khan F, Elmiaari M, Magzoub A, Saleh M.   +5 more
europepmc   +2 more sources

A case of Crohn's disease in a patient with megacystis microcolon intestinal hypoperistalsis syndrome. [PDF]

JPGN Rep
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition resulting in symptoms of bowel and bladder pseudo‐obstruction.
Putzeys CC, House T, Iurilli J, Gomez A, Garg S, Wershba E, Silber G, Shub M, Williams D.   +8 more
europepmc   +2 more sources

Prenatal Diagnosis of ACTG2-Related Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome-Case Report and Systematic Review. [PDF]

J Clin Med
Background/Objectives: Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by smooth muscle dysfunction and results in severe bladder dilatation and intestinal dysmotility.
Ravi N, Kumar S, Ramachandran A.
europepmc   +2 more sources

A review of fetal megacystis: from diagnosis to long-term prognosis

Український журнал Перинатологія і педіатрія
Megacystis is a rare fetal condition characterized by an abnormal enlargement of the bladder, often associated with lower urinary tract obstructions, genetic mutations (e.g., ACTG2 in Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome), or ...
J.L. Herbert, K. Manuel, S. Subramanian, B. Ramamoorthy, M.J.H. Dowlath   +4 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 & 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
doaj   +2 more sources