Results 21 to 30 of about 1,107 (148)

An antenatal appearance of megacystis-microcolon-intestinal hypoperistalsis syndrome [PDF]

The Turkish Journal of Pediatrics, 2008
We herein present a megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) case followed by ultrasound (US) examinations before birth.
Yoichiro Oka, Koushi Asabe, Takayuki Shirakusa, Kazuki Nabeshima   +3 more
doaj   +1 more source

Waardenburg-Shah syndrome: A case of neonatal palliative care. [PDF]

Pediatr Discov
Pediatric Discovery, Volume 2, Issue 4, December 2024.
Colpani M, Rodriguez Perez MDC, Drera BA, Risso FM.   +3 more
europepmc   +2 more sources

Prenatal diagnostic and management of megacystis microcolon intestinal hypoperistalsis syndrome: A report on a rare case in Cipto Mangunkusumo Hospital, Jakarta, Indonesia

Majalah Obstetri dan Ginekologi, 2020
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or
Fita Maulina, Yuditiya Purwosunu
doaj   +2 more sources

Vanishing Gastroschisis: The Importance of Prenatal Diagnosis in a Seemingly Normal Abdomen [PDF]

European Journal of Pediatric Surgery Reports
A newborn of 32 + 6 weeks' gestational age with prenatal diagnosis of gastroschisis was born through elective caesarean section. Ultrasonography at 16 + 4 gestational weeks (GW) showed a gastroschisis with free bowel loops floating in amniotic fluid ...
Clara Massaguer, Irene De Haro Jorge, Laura Saura García, Jordi Prat Ortells, María Elena Muñoz Fernández, Xavier Tarrado   +5 more
doaj   +2 more sources

Síndrome de megavejiga-microcolon-hipoperistalsis intestinal: a propósito de un caso de supervivencia prolongada The megacystis-microcolon-intestinal hypoperistalsis syndrome: a propos of a case with prolonged survival

Nutrición Hospitalaria, 2008
El síndrome de megavejiga-microcolon-hipoperistaltismo intestinal (MMIHS) es una grave enfermedad congénita autosómica recesiva, caracterizada por distensión vesical e hipoperistaltismo intestinal que provoca obstrucción intestinal funcional en el ...
M. I. Magaña Pintiado, M. Al-Kassam Martínez, C. Bousoño García, E. Ramos Polo, M. E. Gómez Álvarez   +4 more
doaj   +1 more source

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn

Acta Medica Iranica, 2015
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or
Saeid Tarlan, Abolfazl Mahyar, Victoria Chegini, Venus Chegini   +3 more
doaj   +1 more source

Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Molecular Genetics & Genomic Medicine, 2020
Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS), or “visceral myopathy,” is a severe early onset disorder characterized by impaired muscle contractility in the bladder and intestines. Five genes are linked to MMIHS: primarily ACTG2, but
Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue   +5 more
doaj   +2 more sources

Diagnostic value of the microcolon using ultrasonography in small bowel atresia

BMC Pediatrics, 2022
Background Microcolon helps diagnose small bowel atresia (SBA) using contrast enema. However, there are no ultrasonography (US) microcolon criteria for diagnosing SBA.
Hao Ju, Shu Feng, Ying Huang
doaj   +1 more source

A case report of a 30-year-old male with megacystis-microcolon-intestinal hypoperistalsis syndrome with de novo ACTG2 gene mutation [PDF]

Hospital Pharmacology, 2023
Introduction: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a very rare genetic disorder of visceral motility of the gastrointestinal and genitourinary system.
Knežević Violeta V., Knežević Aleksandar D., Milijašević Dragana S., Božić Dušan Đ., Milijašević Boris Ž.   +4 more
doaj   +1 more source

Congenital multiple colonic atresias in the sigmoid colon and upper rectum

Journal of Pediatric Surgery Case Reports, 2023
Introduction: Congenital colonic atresia develops in 1 in 20,000 to 66,000 births, accounting for 1.8–15% of all intestinal atresias. Approximately 8.9% of patients with colonic atresia have multiple colonic atresias.
Kai Konishi, Tomoki Tsuda, Yuichi Togashi, Takuma Kawawaki, Atsuro Takimoto, Yuma Takeuchi   +5 more
doaj   +1 more source