Results 11 to 20 of about 23,110 (126)
Congenital short bowel syndrome: Clinical aspects by systematic review. [PDF]
JPGN RepAbstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Remund B, Schibli S, Sokollik C.
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Adult Onset Hirschsprung's Disease With Overlapping Presentation of Sigmoid Volvulus: Two Case Reports With Literature Review at Tikur Ambessa Specialized Hospital, AAU, Ethiopia. [PDF]
Clin Case RepABSTRACT Adult‐onset Hirschsprung's disease (HSD) is uncommon and frequently leads to diagnostic difficulty after infancy. It is a congenital illness that causes intestinal obstruction due to a lack of ganglion cells. Approximately 1 in 5000 live newborns have this illness, and 95% of HSD cases are identified in infants.
Tesfaye AS +5 more
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Animals, 2021 RASopathies are a group of developmental disorders caused by dominant mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) cell signaling pathway.
Joana G. P. Jacinto +3 more
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Congenital pouch colon and segmental dilatation of the colon: A report of two unusual cases
Journal of Indian Association of Pediatric Surgeons, 2011 This report describes two unusual cases of anorectal malformation. The first had a type III congenital pouch colon with a colovesical fistula. In the other very similar case, segmental dilatation of the colon was present along with penoscrotal ...
Archana Puri +5 more
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Susceptibility of ECE1 polymorphisms to Hirschsprung's disease in southern Chinese children
Frontiers in Pediatrics, 2022 BackgroundHirschsprung's disease (HSCR) is currently considered to be a congenital gastrointestinal malformation caused mainly by genetic factors. Endothelin Converting Enzyme-1 (ECE1) has been reported to be associated with HSCR.
Chaoting Lan +7 more
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Congenital pouch colon: Our experience with coloplasty
African Journal of Paediatric Surgery, 2018 Background: Congenital pouch colon (CPC) or congenital short colon is an entity found mainly in Indian subcontinent. In CPC, colon is replaced with partially or completely abnormal pouch connected to the genitourinary tract by a fistula (colovesical ...
Sudhir Singh, J D Rawat, Piyush Kumar
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Disparities in the gut metabolome of post-operative Hirschsprung's disease patients
Scientific Reports, 2021 Hirschsprung's disease (HD) is a congenital structural abnormality of the colon seen in approximately 1 to 5000 live births. Despite surgical correction shortly after presentation, up to 60% of patients will express long-term gastrointestinal complaints,
Vera Plekhova +5 more
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Megacystis-Microcolon-intestinal hypoperistalsis syndrome
Journal of Pediatric Surgery Case Reports, 2019 Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital anomaly that presents with severe form of functional obstruction of the gastrointestinal tract which is usually fatal.
Ahmed Elrouby +3 more
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World Journal of Surgical Oncology, 2023 Background The diagnostic criteria and effect of persistent descending mesocolon (PDM) on sigmoid and rectal cancers (SRCs) remain controversial. This study aims to clarify PDM patients' radiological features and short-term surgical results.
Shiwen Mei +7 more
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The Influence of Neocate in Paediatric Short Bowel Syndrome on PN Weaning
Journal of Nutrition and Metabolism, 2010 Clinical management of short bowel syndrome remains a multistage process. Although PN is crucial, early introduction of enteral feeding is mandatory. We describe retrospectively 4 patients with an ultrashort bowel who could be weaned off PN on very short
E. De Greef +4 more
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