Type V Pouch Colon, Prune Belly Syndrome, and Congenital Anterior Urethrocutaneous Fistula.
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ABSTRACT:
SUBMITTER: Raj P
PROVIDER: S-EPMC5538604 | biostudies-other | 2017 Apr-Jun
REPOSITORIES: biostudies-other
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Project description:Congenital Pouch Colon (CPC) is a rare anorectal anomaly common to northwestern India, specifically Rajasthan. Despite efforts to understand the clinical genetic makeup of CPC, no attempt on identifying non-coding RNAs was done. We have earlier reported CPC's rare variants from whole exome sequencing (WES) across 18 affected samples in a total of 64 subjects. A Smith?Waterman algorithm was used to infer a couple of lncRNAs from WES samples of CPC with predictions from the Noncode database. Further screening and quantification using polymerase chain reaction (PCR), we ascertained interactions using Micro Scale Thermophoresis (MST). We report the role of lnc-EPB41-1-1 shown to be promiscuously interacting with KIF13A substantiating their role in regulation.
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Project description:BackgroundCongenital pouch colon (CPC) is a rare congenital abnormality associated with anorectal malformations with high incidence of complications and mortality. The aim of this study is to describe the various types of congenital colon pouch, their management aspects, complications of surgery, and the best management options.ResultsThe incidence of congenital pouch colon in the present study was 5.3% (18 patients) of all anorectal malformations. Sixteen cases (88.8%) were males and 2 cases (12.5%) were females, (M: F ratio was 8:1). The age of presentation was ranged from 1day to 1year; 17 cases were presented in first week of life. Preoperative diagnosis of congenital pouch colon was done in 7 patients. As an initial procedure tabularization of the pouch with end colostomy was done in 15 cases, window colostomy was done in 2 cases, and excision of the pouch and proximal ileostomy was done in one patient. As a definitive procedure, abdomino-perineal pull-through of the tabularized pouch was done in 15 cases, ileo-anal anastomosis after pouch excision was done in 3 cases.ConclusionsPouch tabularization and end colostomy had better outcome than other types of interventions. Abdomino-perineal pull through of the tabularized pouch was the definitive surgical procedure for treatment of complete pouch colon in our study.
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Project description:We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1 associated with colon, neural/brain muscles and Dyskeratosis Congenita maladies. Furthermore, the stop gain mutations in the form of JAG1,OR5AR1,SLC22A24,PEX16,TSPAN32,TAF1B,MAP2K3 and SLC25A19 appears to be localized to Chromosomes 2, 11, 17 and 20 in addition to the three stop lost mutants across three genes, viz. OAS2, GBA3 and PKD1L2 affecting the colon tissue. While our results have paved way for transcendence of monogenic traits in identifying the genes underlying rare genetic disorders, it will provide helpful clues for further investigating genetic factors associated with anorectal anomalies, particularly CPC.
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Project description:BackgroundH type tracheoesophageal fistula (H-TEF) is a rare congenital anomaly. Management may be complicated by late diagnosis and variation(s) in the therapeutic strategy. A systematic review of published studies explores the utility of diagnostic studies, operations and postoperative complications.MethodsMedline and PubMed database(s) were searched for ALL studies reporting H-TEF during 1997-2020. Using PRISMA methodology, manuscripts were screened for eligibility and reporting.ResultsForty-seven eligible studies were analysed. Primary diagnosis varied widely with surgeons performing oesophagography and trachea-bronchoscopy. Preoperative localisation techniques included fluoroscopy, guidewire placement and catheterisation. A cervical approach (209 of 272 cases), as well as thoracotomy, thoracoscopy and endoscopic fistula ligation, were all described. Morbidity included fistula recurrence (1.7%), leak (2%), tracheomalacia (3.4%) and respiratory sequelae (1%). The major adverse complication in all studies was vocal cord palsy secondary to laryngeal nerve injury (18.5%) yet strikingly few centres routinely reported undertaking vocal cord screening pre or postoperatively.ConclusionThis study shows that paediatric surgeons record low volume activity with H type tracheoesophageal fistula. Variation(s) in clinical practice are widely evident. Laryngeal nerve injury and its subsequent management warrant special consideration. Care pathways may offset attendant morbidity and define 'best practice.'
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