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Anorectal malformation

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https://www.readbyqxmd.com/read/29778545/a-descriptive-model-for-a-multidisciplinary-unit-for-colorectal-and-pelvic-malformations
#1
Alejandra Vilanova-Sanchez, Devin R Halleran, Carlos A Reck-Burneo, Alessandra C Gasior, Laura Weaver, Meghan Fisher, Andrea Wagner, Onnalisa Nash, Kristina Booth, Kaleigh Peters, Charae Williams, Sarah Mayer Brown, Peter Lu, Molly Fuchs, Karen Diefenbach, Jeffrey R Leonard, Geri Hewitt, Kate McCracken, Carlo Di Lorenzo, Richard J Wood, Marc A Levitt
INTRODUCTION: Patients with anorectal malformations (ARM), Hirschsprung disease (HD), and colonic motility disorders often require care from specialists across a variety of fields, including colorectal surgery, urology, gynecology, and GI motility. We sought to describe the process of creating a collaborative process for the care of these complex patients. METHODS: We developed a model of a devoted center for these conditions that includes physicians, psychologists, social workers, nurses, and advanced practice nurses...
April 19, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29778302/impact-of-low-anorectal-malformation-on-parenting-stress-a-mixed-method-study
#2
Helena Wigander, Maria Öjmyr-Joelsson, Björn Frenckner, Tomas Wester, Margret Nisell
The purpose of this study was to investigate parenting stress among parents of children with low ARM. STUDY AIMS: 1) Compare parenting stress among parents of children with low ARM, with parents of healthy children using questionnaires. 2) Identify subscales within the questionnaire which needed to be further explored. 3) Use semi-structured interviews with parents of children with low ARM, to explore parenting stress and to explain, expand and or support the quantitative findings. DESIGN AND METHODS: An explanatory sequential mixed methods design was used in this follow up study...
May 17, 2018: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/29776939/outcomes-of-transanal-endorectal-pull-through-for-rectal-atresia
#3
Mutaz Gieballa, Nawaf AlKharashi, Mohammed Al-Namshan, Saud AlJadaan
Rectal atresia is a rare anorectal malformation, and it has been reported to represent 1%-2% of all anorectal malformations. We report three newborns who were admitted to the neonatal intensive care unit for abdominal distention, bilious vomiting and failure to pass meconium. The external anus and genitalia were normal and well formed. Digital rectal examination showed a blind-ending anal canal. All three infants were initially managed with diverting colostomy and then transanal resection of the rectal atresia with primary anastomosis, followed by colostomy closure...
May 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29769508/total-colonic-duplication-associated-with-anorectal-malformation-in-a-male-boy
#4
L H Chowdhury, U K Nag, N A Sheuli, U Roy
Complete colorectal tubular duplication is very rare congenital anomaly and its association with anorectal malformation is extremely rare. Preoperative diagnosis is very difficult and management is also challenging. We report a case of a newborn present as a bucket handle variety of anorectal malformation which was per-operatively diagnosed as an ARM with rectal duplication. At his 14th months of age on laparotomy patient was diagnosed as a case of ARM with total colonic duplication with single appendix. We managed the case successfully without extensive bowel resection in staged procedure...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29751372/self-efficacy-beliefs-faecal-incontinence-and-health-related-quality-of-life-in-patients-born-with-anorectal-malformations
#5
Caterina Grano, Mariana Fernandes, Silvia Bucci, Dalia Aminoff, Fabio Lucidi, Cristiano Violani
AIM: Anorectal malformations (ARM) are rare congenital colorectal anomalies with long lasting consequences, among which faecal incontinence is one of the most relevant since it may strongly affects patients' health-related quality of life (HRQoL). Although a growing body of literature supports the importance of self-efficacy in chronic disease health outcomes, only few studies have focused on self-efficacy in anorectal malformations and in faecal incontinence. The purpose of the present study is to examine the mediational role of self-efficacy in the path between faecal incontinence and health-related quality of life in patients born with in anorectal malformations...
May 11, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
https://www.readbyqxmd.com/read/29750290/neonatal-intestinal-obstruction-syndrome
#6
Manuel Gil Vargas, Mariana L Miguel-Sardaneta, Michelle Rosas-Téllez, Dayana Pereira-Reyes, Jaime M Justo-Janeiro
Neonatal intestinal obstruction is caused by an anatomical abnormality that produces bowel movement failure. Intestinal obstruction presents with three classic clinical signs: vomiting, abdominal distention, and failure to pass meconium. Intestinal obstruction is one of the most common causes for admitting a pediatric patient to the pediatric surgery unit in his or her first weeks of postnatal life. Congenital obstruction of the digestive tract in neonates is a common problem, with the most frequent cause being anorectal malformations (41%), followed by esophageal obstruction (24%), and duodenal obstruction (20%)...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29747656/maternal-drug-use-and-the-risk-of-anorectal-malformations-systematic-review-and-meta-analysis
#7
REVIEW
Nadine Zwink, Ekkehart Jenetzky
BACKGROUND: Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk factor, however, has not been reviewed systematically. METHODS: Studies published between 1977 and April 2017 were reviewed through systematic search in PubMed, ISI Web of Knowledge and Scopus databases. Furthermore, related and cross-referencing publications were reviewed...
May 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29741982/one-stage-laparoscopic-assisted-anorectoplasty-for-neonates-with-anorectal-malformation-and-recto-prostatic-or-recto-bulbar-fistula-according-to-the-krickenbeck-classification
#8
Hui Xiao, Long Chen, Xiang-Hai Ren, Rui Huang, Mei Diao, Long Li
BACKGROUND: Congenital recto-urethral fistula (RUF) is the most common form of anorectal malformations (ARMs) found in boys. The aim of this study is to review our experience with one-stage laparoscopic procedure in the management of ARMs with recto-prostatic fistula and recto-bulbar fistula. METHODS: Seventeen boys with congenital RUF who underwent one-stage laparoscopy-assisted anorectoplasty (LAARP) between July 2012 and June 2015 were retrospectively in the study...
May 9, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29731315/multiple-neurosurgical-treatments-for-different-members-of-the-same-family-with-currarino-syndrome
#9
N Serratrice, L Fievet, F Albader, D Scavarda, H Dufour, S Fuentes
INTRODUCTION: Currarino's syndrome (CS) is an autosomal dominant disorder of embryonic development causing a rare malformating syndrome characterized by a triad of an anorectal malformations, presacral mass (most commonly an anterior sacral meningocele) and sacral bony defects. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. Family screening is obligatory. The diagnosis is usually made during childhood and rarely in adulthood...
May 3, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29726261/-artificial-bowel-sphincter-ten-years-later
#10
J Hoch, R Škába, Z Jech
INTRODUCTION: Congenital anorectal malformation is the most common cause of fecal incontinence in children and young adults. Surgical treatment options are limited. One of the treatment methods is the implantation of an artificial bowel sphincter. The goal of this study was to investigate the efficacy of the artificial bowel sphincter in reaching long-term fecal continence in patients with anorectal malformation. METHODS: Young adults with fecal incontinence due to anorectal malformation were included in the study...
2018: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/29704302/familial-autosomal-dominant-severe-ankyloglossia-with-tooth-abnormalities
#11
Anaëlle Lenormand, Roman Khonsari, Pierre Corre, Jean Philippe Perrin, Cécile Boscher, Mathilde Nizon, Olivier Pichon, Albert David, Cedric Le Caignec, Helios Bertin, Bertrand Isidor
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29704291/a-missense-mutation-in-ebf2-was-segregated-with-imperforate-anus-in-a-family-across-three-generations
#12
Shinn Young Kim, Hyun-Sun Ko, Namshin Kim, Seon-Hee Yim, Seung-Hyun Jung, Jiwoong Kim, Myung-Duk Lee, Yeun-Jun Chung
The etiology of imperforate anus, a major phenotype of anorectal malformation (ARM), is still unknown and not a single gene has been reported to be associated with it. We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). This mutation is completely segregated with the disease phenotype in the family and is evolutionarily highly conserved among diverse vertebrates...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29681693/anorectal-malformations-in-adolescent-females-a-retrospective-study
#13
Jiledar Rawat, Sudhir Singh, Nitin Pant
Context: While most of the females with anorectal malformations (ARMs) present in either neonatal period or early infancy, a small percentage presents in their adolescence. Aim: The aim is to study the causes of delay in presentation, management, and postoperative outcome in these cases. Settings and Design: This is a retrospective observational study conducted in the Department of Paediatric Surgery, King George's Medical University, Lucknow...
April 2018: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/29680275/can-sacral-development-as-a-marker-for-caudal-regression-help-identify-associated-urologic-anomalies-in-patients-with-anorectal-malformation
#14
Alejandra Vilanova-Sanchez, Carlos A Reck, Yuri V Sebastião, Molly Fuchs, Devin R Halleran, Laura Weaver, D Gregory Bates, Alessandra C Gasior, Tassiana Maloof, Erin J Hoover, Jordan Jaggers, Renae Gagnon, Christina C Ching, Daniel Dajusta, Venkata R Jayanthi, Marc A Levitt, Richard J Wood
BACKGROUND AND AIM: The sacral ratio (SR) is a well-established tool to quantify sacral development in patients with anorectal malformations (ARM) and can be used as a predictor of fecal continence. We hypothesized that a lower SR correlated with the presence of urologic and renal malformations. METHODS: We retrospectively reviewed the medical records of patients with ARM treated at our center from 2014 to 2016. We measured the lateral SR as a marker for sacral development and assessed the spine for the presence of tethered cord (TC)...
March 23, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29653440/long-term-outcome-after-dynamic-graciloplasty-for-treatment-of-persistent-fecal-incontinence-in-patients-with-anorectal-malformations
#15
Johan Danielson, Urban Karlbom, Tomas Wester, Wilhelm Graf
PURPOSE:  Dynamic graciloplasty (DGP) has been used to treat severe fecal incontinence since the 1980s. Previous studies have shown an inferior outcome in patients with anorectal malformations (ARMs). Our experience has been that DGP has been appreciated by ARM -patients. The objective of the study was to evaluate the long-term outcome of DGP in our patients with ARM compared with patients with other underlying conditions. MATERIALS AND METHODS:  Twenty-three patients operated with DGP at our institution from 1996 to 2010 were sent validated bowel function and quality of life questionnaires...
April 13, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29629723/comparison-between-the-pouch-perineum-distance-in-neonates-with-a-low-type-anorectal-malformation-with-and-without-an-opened-fistula-pitfall-of-measuring-the-pouch-perineum-distance-on-sonography
#16
Takahiro Hosokawa, Hiroaki Takahashi, Yutaka Tanami, Yumiko Sato, Yujiro Tanaka, Hiroshi Kawashima, Mayumi Hosokawa, Eiji Oguma, Yoshitake Yamada
OBJECTIVE: An anorectal malformation (ARM) in neonates requires urgent surgery, with the type of surgery being dependent on the type of malformation (low, intermediate, or high). Distal rectal pouch and perineum (pouch-perineum) distance is reported to be useful for differentiating the type of ARM; however, the impact of an opened fistula on pouch-perineum distance is not well known. The purpose of this study was to evaluate the difference in pouch-perineum distance between neonates with a low-type ARM with and without an opened fistula...
April 9, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29605261/reality-check-what-happens-when-patients-with-anorectal-malformations-grow-up-a-pilot-study-of-medical-care-transition-from-the-adult-patient-perspective
#17
Annelotte van der Bent, Eileen M Duggan, Laurie N Fishman, Belinda Hsi Dickie
BACKGROUND: There has been an increased focus on transition of pediatric and adolescent patients to adult centered care. For patients with rare and complex conditions, such as anorectal malformations (ARM), difficulties are compounded by the absence of structured transition protocols and lack of adult provider expertise. We sought to explore the actual experiences of adult patients with ARM and distinguish if there are factors that influence the ability to achieve satisfactory transition to adult centered medical care...
March 2, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29602552/screening-practices-and-associated-anomalies-in-infants-with-anorectal-malformations-results-from-the-midwest-pediatric-surgery-consortium
#18
Peter C Minneci, Rashmi S Kabre, Grace Z Mak, Devin R Halleran, Jennifer N Cooper, Amin Afrazi, Casey M Calkins, Cynthia D Downard, Peter Ehrlich, Jason Fraser, Samir K Gadepalli, Michael A Helmrath, Jonathan E Kohler, Rachel Landisch, Matthew P Landman, Constance Lee, Charles M Leys, Daniel L Lodwick, Rodrigo Mon, Beth McClure, Beth Rymeski, Jacqueline M Saito, Thomas T Sato, Shawn D St Peter, Richard Wood, Marc A Levitt, Katherine J Deans
BACKGROUND: This study evaluates screening practices and the incidence of associated anomalies in infants with anorectal malformations (ARM). METHODS: We performed a multi-institutional retrospective cohort study of children born between 2007 and 2011 who underwent surgery for ARM at 10 children's hospitals. ARM type was classified based on the location of the distal rectum, and all screening studies were reviewed. RESULTS: Among 506 patients, the most common ARM subtypes were perineal fistula (40...
March 7, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29588075/surgical-management-of-functional-constipation-an-intermediate-report-of-a-new-approach-using-a-laparoscopic-sigmoid-resection-combined-with-malone-appendicostomy
#19
Alessandra Gasior, Carlos Reck, Alejandra Vilanova-Sanchez, Karen A Diefenbach, Desalegn Yacob, Peter Lu, Karla Vaz, Carlo Di Lorenzo, Marc A Levitt, Richard J Wood
INTRODUCTION: We previously reported our surgical technique for functional constipation for patients who have failed medical management using a novel collaborative approach with gastroenterology input, pre-operative contrast enema, colonic manometry, and laxative protocol combined with a laparoscopic colonic resection with Malone appendicostomy. Now we report our intermediate outcomes. METHODS: Patients who failed bowel management program for functional constipation were reviewed from 3/2014-2/2017...
March 7, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29557351/acute-mechanical-intestinal-obstruction-in-children-at-zinder-national-hospital-niger-aetiologies-and-prognosis
#20
Harissou Adamou, Ibrahim Amadou Magagi, Oumarou Habou, Ousseini Adakal, Kabirou Ganiou, Magagi Amadou
Background: To describe the aetiological and prognostic aspects of acute mechanical intestinal obstruction (AMIO) in children at Zinder National Hospital (Niger). Materials and Methods: This was a cross-sectional study on a period to January 2013-June 2015. The database included all children under 15 years of age with a surgical diagnosis of mechanical intestinal obstruction. P < 0.05 was considered statistically significant for analysis. Results: AMIOs represent 21...
July 2017: African Journal of Paediatric Surgery: AJPS
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