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Anorectal malformations

Manoochehr Ghorbanpoor, Behzad Dehvan, Siavash Rahimi, Azar Pirdehghan
Background: Fecal incontinence is one of the worst functional complications of posterior sagittal anorectoplasty for treatment of anorectal malformation. Objectives: In this study, we aimed to identify the prevalence of fecal incontinence in patients with the diagnosis of high or low anorectal malformation who underwent three-stage posterior sagittal anorectoplasty surgery in our center. Patients and Methods: Children with the diagnosis of anorectal malformation who underwent posterior sagittal anorectoplasty at the Department of Pediatric Surgery of Besat Hospital, Hamadan University of Medical Sciences, Iran, from 2012 to 2016 were enrolled in the study...
2018: Scientifica
Craig C Teerlink, Ryan Bernhisel, Lisa A Cannon-Albright, Michael D Rollins
Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identified from among the two largest healthcare providers in Utah with linked genealogy data using International Classification of Diseases, Ninth Revision (ICD-9) diagnosis codes. The genealogical index of familiality (GIF) statistic, which compares the average pair-wise relatedness of cases to sets of matched controls, was used to test excess familial clustering...
July 6, 2018: Journal of Human Genetics
Zhonghua Yang, Huimin Jia, Yuzuo Bai, Weilin Wang
Although there are improvements in treatment of anorectal malformations (ARMs), patients can still develop fecal incontinence, constipation, and soiling with loss in quality of life. Recent evidence suggests that malformations in the lumbosacral spinal cord are one of the factors that affect postoperative anorectal function. However, the underlying mechanism that produces these malformations has yet to be elucidated. The bone morphogenetic proteins (BMPs) comprise a large group of highly conserved molecules that are involved in multiple processes and play important roles in the formation, development, and differentiation of the spinal cord...
June 27, 2018: International Journal of Developmental Neuroscience
Dhanya Mullassery, Roberta Iacona, Kate Cross, Simon Blackburn, Edward Kiely, Simon Eaton, Joe Curry, Paolo De Coppi
AIM OF THE STUDY: Divided colostomy (DC) has been recommended in anorectal malformations (ARMs) with previously reported advantages of decreasing overflow into the distal limb and urinary tract infections (UTIs). Skin bridge loop colostomy (LC) is a technically easier alternative without an increase in these complications. We report our institutional experience of LC in ARM. METHODS: Retrospective study (Institution-approved Clinical Audit) reviewing the clinical records of all patients with ARM undergoing stoma formation in a single UK tertiary pediatric surgical center (2000-2015)...
June 1, 2018: Journal of Pediatric Surgery
Emanuele Ausili, A Marte, G Brisighelli, P Midrio, G Mosiello, E La Pergola, L Lombardi, B D Iacobelli, E Caponcelli, M Meroni, E Leva, C Rendeli
PURPOSE: We assessed short- and mid-long-term clinical efficacy of transanal irrigation (TAI) and its effect on the quality of life of children with spina bifida (SB) and anorectal malformations (ARM). METHODS: Seventy-four pediatric patients (age 6-17 years) with SB and ARM with neurogenic bowel dysfunction were enrolled for a prospective and multicentric study. Patients were evaluated before the beginning of TAI (T0), after 3 months (T1) and after at least 2 years (range 24-32 months) (T2) using a questionnaire assessing bowel function, the Bristol scale, and two validated questionnaires on quality of life: the CHQ-PF50 questionnaire for the parents of patients aged 6-11 years and the SF36 questionnaires for patients aged between 12 and 18 years...
June 12, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Muhammad Umar Nisar, Nadeem Akhtar, Mudassar Fiaz Gondal, Samer Sikander, Sana Viqar
Aphallia or penile agenesis is very rare congenital anomaly of unknown cause occurring 1 in 30 million live births. Very little has been written in literature about aphallia. There is absent phallus and urethra may open abnormally in perineum or into rectum posing various surgical, social and psychological implications as the child grows. We are presenting 03 cases of aphallia with associated congenital anomalies such as unilateral renal agenesis, bilateral undescended testes, anorectal malformation and rectovasical fistula...
April 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Laura V Veras, Pranit N Chotai, Andrew Z Tumen, Ankush Gosain
BACKGROUND: Cloaca, Hirschsprung disease, and anorectal malformations (CHARM) are congenital anomalies of the hindgut. Small series have suggested that children suffering from one of these anomalies may be at risk for growth impairment. We sought to expand on these findings in a comprehensive cohort, hypothesizing that patients with Medicaid insurance or African-American (AA) race would be at higher risk for poor growth. METHODS: Following Institutional Review Board (IRB) approval, single-institution retrospective review of children with CHARM anomalies was performed (2009-2016)...
September 2018: Journal of Surgical Research
Anna Svenningsson, Anna Gunnarsdottir, Tomas Wester
PURPOSE: The aim of this study was to assess maternal risk factors and perinatal characteristics of patients with anorectal malformations (ARM) in Sweden. METHODS: Population-based case-control study including all patients with ARM born in Sweden 1973-2014. Patients were identified from the Swedish National Patient Register, and data on possible maternal risk factors and perinatal characteristics were obtained from the Swedish Medical Birth Register. The association between study variables and ARM was analyzed using conditional logistic regression...
April 17, 2018: Journal of Pediatric Surgery
Ali Alsaadi, Hamdi A Alsufiani, Mohammad D Allugmani, Altaf Hussain Gora
Esophageal lung is a rare communicating bronchopulmonary foregut malformation in which the main bronchus arising from the trachea is absent. The affected lung is usually hypoplastic and aerated via an anomalous airway originating from the esophagus. Other anomalies such as esophageal atresia with tracheoesophageal fistula or VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association can co-exist. The initial radiographic findings may be normal, but subsequent imaging usually shows progressive and recurrent lung collapse, probably because of recurrent aspiration through the anomalous airway and poor compliance of the affected lung during breathing...
April 2018: Radiology Case Reports
Saurabh Saxena, Mitchell Gibbons, Kaveer Chatoorgoon, Gustavo A Villalona
OBJECTIVE: To present a case series of pediatric patients who underwent a laparoscopic-assisted divided colostomy for anorectal malformations, describe our technique, and provide a review of the literature on laparoscopic-assisted colostomy in pediatric patients. METHODS: We performed a retrospective review of six patients born with anorectal malformations, who received a laparoscopic-assisted colostomy from 2012 to 2016 at Cardinal Glennon Children's Medical Center...
June 5, 2018: Pediatric Surgery International
Lucia Cococcioni, Susanna Paccagnini, Elena Pozzi, Luigina Spaccini, Elisa Cattaneo, Serena Redaelli, Francesca Crosti, Gian Vincenzo Zuccotti
BACKGROUND: Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. CASE PRESENTATION: We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities...
May 25, 2018: Italian Journal of Pediatrics
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
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
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
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
C Grano, M Fernandes, S Bucci, D Aminoff, F Lucidi, C Violani
AIM: Anorectal malformations (ARMs) are rare congenital colorectal anomalies with long lasting consequences, among which faecal incontinence is one of the most relevant since it may strongly affect 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 ARMs 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 HRQoL in patients born with ARMs...
May 11, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
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
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
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
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
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