Results 1 to 10 of about 855 (126)

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

Extremely Premature Infant and Digestive Malformations: Case Report of Atypical Postoperative Journeys [PDF]

Pediatric Reports
Background and Clinical Significance: Extremely premature infants face complex medical challenges requiring comprehensive multidisciplinary care. Gastrointestinal malformations, while rare, pose significant diagnostic and therapeutic challenges in this ...
Elena Roxana Matran, Alexandru Dinulescu, Ana Prejmereanu, Oana-Alexandra Peta, Radu-Ioan Tiron, Mirela Luminița Pavelescu   +5 more
doaj   +2 more sources

Congenital segmental dilatation of ascending colon with distal microcolon: A diagnostic dilemma

Journal of Indian Association of Pediatric Surgeons, 2023
A 5-day-old male presented with bilious vomiting, a grossly distended abdomen, and passage of a small amount of stool. The anal opening was at a normal position.
Ruchira Nandan, Vaibhav Pandey, Greeshma Suresh, Rajat Kumar Singh, Seth Kachhap   +4 more
doaj   +2 more sources

Enteric duplication cyst as a lead point for intrauterine segmental volvulus resulting in type IIIa ileal atresia: a neonatal case report and focused literature review [PDF]

Frontiers in Pediatrics
BackgroundJejunoileal atresia is most commonly attributed to intrauterine mesenteric vascular accidents. Both segmental volvulus and enteric duplication cysts are recognized yet uncommon causes of fetal vascular compromise capable of inducing intestinal ...
Mariam Marzouki, Malek Mezni, Yosra Ben Ahmed, Wiem Hammouda, Rim Ben Aziza, Imen Ben Ismail, Said Jlidi, Aya Khemir, Imen Abess   +8 more
doaj   +2 more sources

Contrast enema in suspected post-NEC intestinal strictures without direct stenosis signs: a retrospective study of 191 surgically confirmed cases [PDF]

Frontiers in Pediatrics
ObjectiveContrast enema (CE) is widely used for suspected post-NEC intestinal strictures, yet some surgically confirmed strictures show no direct stenosis on CE.
Jinfeng Hou, Yong Qin, Qingshuang Liu, Jinping Hou, Yi Wang, Zhenhua Guo, Wei Liu, Shengde Wu   +7 more
doaj   +2 more sources

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

JPGN Rep
ABSTRACT Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital condition resulting in symptoms of bowel and bladder pseudo‐obstruction. It carries severe morbidity and mortality; a minority of patients survive to adulthood.
Putzeys CC, House T, Iurilli J, Gomez A, Garg S, Wershba E, Silber G, Shub M, Williams D.   +8 more
europepmc   +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

A case of yogurt central line-associated bloodstream infection in a child with intestinal failure. [PDF]

Nutr Clin Pract
Abstract Central line‐associated bloodstream infections (CLABSI) are a significant cause of morbidity in children with intestinal failure (IF). Probiotic therapy is discouraged in patients with IF because of the increased risk of bacteremia with the probiotic organism.
Rahim N, Keller E, Wagner E, Berkemeyer A, Johnson T, Johnson D, Sentongo T.   +6 more
europepmc   +2 more sources

International Forum on Visceral Myopathy 2024: Advances in the Knowledge of the Disease. [PDF]

Neurogastroenterol Motil
As an orphan disease, where treatment is not curative and diagnosis is often slow, VSCM represents a serious health and social problem requiring research efforts in several directions. ABSTRACT Background Visceral myopathy (VSCM) is an ultra‐rare life‐threatening condition characterized by severe impairment of gastrointestinal (GI), genitourinary, and ...
de Santa Barbara P, Ceccherini I, Heuckeroth RO, Di Lorenzo C, Alves MM, Beyder A, Borrelli O, Cacopardo L, Ceron R, Chen J, Chiappori F, Contessa A, De Giorgio R, Diamanti A, Faticato MG, Faure S, Hashmi SK, Huizinga JD, Kapur RP, Lambe C, Lancon L, McManigal R, Mousa H, Palmitelli A, Perreaux V, Prato AP, Pitto M, Proietti E, Rendu J, Rybak A, Sanders KM, Sardar S, Stanghellini V, Tambucci R, Thapar N, Vanden Berghe P, Vassalli M, Wang Q, Wangler M, Wolfson S, Zada A, Zhou J, Viti F.   +42 more
europepmc   +2 more sources

Intestinal and Multivisceral Transplantation: Where We Stand Today. [PDF]

Pediatr Transplant
ABSTRACT Intestinal and multivisceral transplantation has evolved from an experimental to a life‐saving procedure for children and adults with complications of gut failure (GF). Suboptimal long‐term outcomes of transplant elicit recent advances in surgical and medical gut rehabilitation along with the introduction of glucagon‐like peptide‐2 (GLP‐2 ...
Maklad M, Osman M, Ismail M, Tajima T, Radhakrishnan K, Fujiki M.   +5 more
europepmc   +2 more sources