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.
| S-EPMC6690573 | biostudies-literature
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:Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygous missense variants, and further discovered variants of unknown significance (VUS) which could provide insights into CPC manifestation. From whole exome sequencing (WES) performed earlier, the trio exomes were analyzed from those who were admitted to J.K. Lon Hospital, SMS Medical College, Jaipur, India, between 2011 and 2017. The proband exomes were compared with the unaffected sibling/family members, and we sought to ask whether any variants of significant interest were associated with the CPC manifestation. The WES data from a total of 64 samples including 16 affected neonates (11 male and 5 female) with their parents and unaffected siblings were used for the study. We examined the role of rare allelic variation associated with CPC in a 16 proband/parent trio family, comparing the mutations to those of their unaffected parents/siblings. We also performed RNA-Seq as a pilot to find whether or not the genes harboring these mutations were differentially expressed. Our study revealed extremely rare variants, viz., TAF1B, MUC5B and FRG1, which were further validated for disease-causing mutations associated with CPC, further closing the gaps of surgery by bringing intervention in therapies.
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Project description:Accurate microcatheter placement for anterior condylar arteriovenous fistula (AVF) enables selective transvenous embolization (TVE) and helps to avoid hypoglossal nerve palsy. Anterior condylar AVF has a shunted pouch within the condylar vascular and osseous structures. Detailed anatomical comprehension of the shunted pouch is essential, in addition, we believe that it is important to have a strategy for where in the shunted pouch to start filling with coils. Specifically, we consider that it is important to structurally understand the more upstream location (arterial side) within the shunted pouch (called "shunted pouch entry zone"), guide the microcatheter there, and embolize from that site. Although several studies have discussed the usefulness of intraoperative cone-beam computed tomography (CBCT) for treating anterior condylar AVF, there are no studies which have mentioned the importance of microcatheter position before coil embolization in selective TVE as in this study. Intraoperative localization of the shunted pouch entry zone is often difficult. Herein, the authors report that cone-beam computed tomography (CBCT) can assist accurate microcatheter tip placement at the shunted pouch entry zone before staring embolization. This is the novel application of intraoperative CBCT to treat anterior condylar AVF successfully treated with precise and selective TVE.
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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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