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Anorectal malformations

Alexander J M Dingemans, Wilfried Krois, Juan Craniotis Rios, Richard J Wood, Marc A Levitt, Carlos A Reck-Burneo
BACKGROUND/PURPOSE: We conduct an annual medical mission to Hospital Ruth Paz para Niños Quemados y Cirugía Pediátrica in Honduras to operate on cases of anorectal malformations (ARM). To improve our knowledge of these patients, we compared their health-related quality of life (HRQoL), and the health literacy of their caregivers from this hospital and ours in the United States. METHODS: The BRIEF Health Literacy Screen (BHLS) and Pediatric Quality of Life Inventory 4...
February 23, 2018: Journal of Pediatric Surgery
Kailas P Bhandarkar, Dinesh H Kittur, Santosh V Patil, Sudhakar S Jadhav
Objective: Epididymo-orchitis (EO) is a well-known complication of urinary tract infections (UTI) in children. This is commonly seen in children who had hypospadias repair or in those who had surgery for anorectal malformation especially when it results in urethral stricture. However EO occurring as a complication of urethral stricture in adults operated for hypospadias in childhood is not well documented in the literature. Material and methods: This is a retrospective review of four adults who had proximal hypospadias repair in childhood...
March 2018: Turkish Journal of Urology
Mohammed Khalifa, Khalid Shreef, Mohammad Ahmad Al Ekrashy, Tarek Abdelazim Gobran
Background: Rectovestibular fistula (RVF) is the most common type of anorectal malformations in females. The need for a diverting colostomy during correction of defect has ignited a heated debate. In this study, we reviewed the girls with RVF that had been treated by either one or two stage procedure in the past 10 years in our institution to define whether one stage or two stage procedures is safer and more beneficial for the patients. Materials and Methods: Seventy girls with RVF that had been operated from January 2005 to January 2015 were studied retrospectively...
April 2017: African Journal of Paediatric Surgery: AJPS
J Lévy, D Haye, N Marziliano, G Casu, F Guimiot, C Dupont, N Teissier, B Benzacken, P Gressens, E Pipiras, A Verloes, A-C Tabet
Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a de novo variant in EFNB2 and a family in which segregates a 610-kb deletion at chromosome 13q33 encompassing only ARGLU1 and EFNB2 genes. The de novo variant was observed in a patient with anal stenosis, hypoplastic left ventricle and mild developmental delay. The deletion was identified in 2 sibs with congenital heart defect and mild developmental delay...
March 6, 2018: Clinical Genetics
Xiao Bing Tang, Huan Li, Jin Zhang, Wei Lin Wang, Zheng Wei Yuan, Yu Zuo Bai
Purpose: This study was performed to investigate the expression pattern of Wnt inhibitory factor 1 (Wif1) and β-catenin during anorectal development in normal and anorectal malformation (ARM) embryos and the possible role of Wif1 and β-catenin in the pathogenesis of ARM. Methods: ARM was induced with ethylenethiourea on the 10th gestational day in rat embryos. Cesarean deliveries were performed to harvest the embryos. The expression pattern of Wif1 and β-catenin protein and mRNA was evaluated in normal rat embryos ( n  = 288) and ARM rat embryos ( n  = 306) from GD13 to GD16 using immunohistochemical staining, Western blot, and real time RT-PCR...
2018: PeerJ
Ziyad M Binsalamah, Charles D Fraser, Carlos M Mery
Pulmonary artery slings and vascular rings are very rare congenital anomalies. It is even rarer to have both anomalies in the same setting. We present a case of a toddler who was diagnosed with a left pulmonary artery sling and a vascular ring as part of the screening process for the VACTERL association - co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb malformations. He underwent a successful surgical repair via median sternotomy and on cardiopulmonary bypass with an uneventful postoperative course...
March 1, 2018: Cardiology in the Young
Dhanya Mullassery, Sumita Chhabra, Ashik Muhamed Babu, Roberta Iacona, Simon Blackburn, Kate M Cross, Paolo Decoppi, Colin Tennant Baillie, Simon Kenny, Joe I Curry
AIM:  Regular anal dilatations are commonly recommended in the postoperative management following posterior sagittal anorectoplasty (PSARP) in anorectal malformations (ARM). We hypothesized that routine postoperative dilatations may not affect surgical outcomes following PSARP. We compare surgical outcomes of routine postoperative dilatations versus no routine postoperative dilatations from two United Kingdom tertiary pediatric surgical centers. METHODS:  This is retrospective records review of patients undergoing definitive surgery for ARM in two tertiary surgical centers in the UK over 5 years...
February 28, 2018: European Journal of Pediatric Surgery
Richard J Wood, Marc A Levitt
Anorectal malformation are common congenital problems occurring in 1 in 5,000 births and have a spectrum of anatomical presentations, requiring individualized treatments for the newborn, sophisticated approaches to the definitive reconstruction, and management of long-term treatments and outcomes. Associated anomalies related to the cardiac, renal, gynecologic, orthopedic, spinal, and sacral systems impact care and prognosis. Long-term results are good provided there is an accurate anatomical reconstruction and a focus on maximizing of functional results...
March 2018: Clinics in Colon and Rectal Surgery
Michael R Mallmann, Heiko Reutter, Birte Mack-Detlefsen, Ingo Gottschalk, Annegret Geipel, Christoph Berg, Thomas M Boemers, Ulrich Gembruch
BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017)...
February 23, 2018: Fetal Diagnosis and Therapy
M J Witvliet, S van Gasteren, D van den Hondel, E Hartman, Lwe van Heurn, Afw van der Steeg
AIM: The aim of this study was to examine the prevalence of sexual dysfunction and distress and to assess whether sexual functioning could be predicted by psychosocial factors in childhood and adolescence in patients with an anorectal malformation or Hirschsprung disease. MATERIAL AND METHODS: In 1998 patients completed a psychosocial questionnaire: The Self-Perception profile. To assess the prevalence of sexual distress and sexual functioning in adulthood (2015) the Female Sexual Function Index (FSFI), The Female Sexual Distress Scale (FSDS) and the International Index of Erectile Functioning (IIEF) were used...
January 31, 2018: Journal of Pediatric Surgery
Bethany J Slater, Saundra Kay, Steven S Rothenberg
OBJECTIVE: Laparoscopic anorectoplasty (LARRP) for the treatment of select anorectal malformations has gained popularity due to enhanced visualization of the fistula and the ability to place the rectum within the sphincter complex while minimizing division of muscles and the perineal incision. However, given the technical challenges and reported complications of ligation, a number of techniques have been described, including using clips, suture ligation, endoloops, or division without closure...
February 15, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar, Andi Dwihantoro
BACKGROUND: Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to investigate the SK3 expression's impact in HSCR patients after a properly performed pull-through surgery in an Indonesian population, a genetically distinct group within Asia...
February 13, 2018: BMC Medical Genetics
Sarah B Cairo, Alessandra Gasior, Michael D Rollins, David H Rothstein
BACKGROUND: Anorectal malformations are one of the most common congenital intestinal anomalies affecting newborns. Despite advances in neonatal care and surgical techniques, many patients with a history of anorectal malformations are affected by long-term challenges involving bowel and bladder dysfunction, sexual dysfunction, and psychosocial issues. These outcomes or challenges are additionally exacerbated by the lack of a structured transition of care from the pediatric to the adult setting...
March 2018: Diseases of the Colon and Rectum
Seungjun Lee, Eun Jin Kim, Sung Im Cho, Hyunwoong Park, Soo Hyun Seo, Moon Woo Seong, Sung Sup Park, Sung Eun Jung, Seong Cheol Lee, Kwi Won Park, Hyun Young Kim
BACKGROUND: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement involving the 7q36 region is associated with CS. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS...
May 2018: Annals of Laboratory Medicine
Stephanie Dukhovny, Carla M Van Bennekom, David R Gagnon, Sonia Hernandez Diaz, Samantha E Parker, Marlene Anderka, Martha M Werler, Allen A Mitchell
INTRODUCTION: We assessed associations between first-trimester metformin use for pregestational diabetes and specific major birth defects. METHODS: We compared risks associated with first-trimester metformin use by diabetic women to nondiabetic women on no diabetes medication; we calculated crude odds ratios by exact logistic regression and adjusted by inverse probability weighting. Confounding by diabetes was assessed by comparing risks for metformin-exposed diabetic women to those for insulin-exposed diabetics and nondiabetics treated with metformin for subfertililty...
February 1, 2018: Birth Defects Research
Giulia Brisighelli, Francesco Macchini, Dario Consonni, Antonio Di Cesare, Anna Morandi, Ernesto Leva
PURPOSE: To evaluate bowel function in patients with anorectal malformations (ARM) comparing existing scoring systems. METHODS: Parents of ARM patients treated at our institution were asked to fill in Holschneider, Kricknebeck, and Rintala questionnaires. Scores obtained from the questionnaires were expressed per cent and analyzed depending on the age and type of ARM according to Krickenbeck classification. Patients younger than 3 years of age or with developmental delay were excluded...
December 27, 2017: Journal of Pediatric Surgery
Arlene Muzira, Nasser Kakembo, Phyllis Kisa, Monica Langer, John Sekabira, Doruk Ozgediz, Tamara N Fitzgerald
INTRODUCTION: Multiple pediatric surgical conditions require ostomies in low-middle-income countries. Delayed presentations increase the numbers of ostomies. Patients may live with an ostomy for a prolonged time due to the high backlog of cases with insufficient surgical capacity. In caring for these patients in Uganda, we frequently witnessed substantial socioeconomic impact of their surgical conditions. METHODS: The operative log at the only pediatric surgery referral center in Uganda was reviewed to assess the numbers of children receiving ostomies over a 3-year period...
January 24, 2018: Pediatric Surgery International
Hui Xiao, Long Chen, Shuli Liu, Xin Li, Mei Diao, Long Li
OBJECTIVE: To compare the efficacy of laparoscopic-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) for high and intermediate anorectal malformation (ARM). METHODS: Clinical data 60 children with high and intermediate ARM who underwent LAARP (40 cases of three-port laparoscopy, 20 cases of transumbilical single incision laparoscopy ) between January 2010 to December 2014 were retrospectively analyzed. Clinical data of 36 children with high and intermediate ARM who underwent PSARP between January 1992 to December 2002 were used as control...
January 25, 2018: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
Shigenobu Emoto, Manabu Kaneko, Koji Murono, Kazuhito Sasaki, Kensuke Otani, Takeshi Nishikawa, Toshiaki Tanaka, Keisuke Hata, Kazushige Kawai, Hideaki Imai, Nobuhito Saito, Hiroshi Kobayashi, Sakae Tanaka, Masako Ikemura, Tetsuo Ushiku, Hiroaki Nozawa
BACKGROUND: The Currarino triad is a rare hereditary syndrome comprising anorectal malformation, sacral bony defect, and presacral mass. Most of the patients are diagnosed during infancy. CASE PRESENTATION: A 44-year-old man was diagnosed with Currarino triad, with a huge presacral teratoma and meningocele. One-stage surgery via posterior approach was successful. CONCLUSIONS: Treatment of the presacral mass in the Currarino triad, diagnosed in adulthood, is challenging...
January 19, 2018: Surgical Case Reports
Sanjay Sinha, Mehul A Shah, Dilip M Babu
Introduction: Sacral agenesis (SA) is a caudal regression anomaly that can cause neurogenic bladder but is not generally recognized as high risk. We studied the clinical presentation, upper urinary tract, bone and spine abnormalities, and urodynamic findings in patients with SA and compared them with related high-risk conditions, anorectal malformation (ARM), and cloacal malformation. Materials and Methods: Patient records between May 2011 and December 2015 were identified and grouped into isolated SA without an overt anomaly (Group I), SA with overt caudal regression anomalies (Group II), and ARM or cloacal malformation without the SA (Group III)...
January 2018: Indian Journal of Urology: IJU: Journal of the Urological Society of India
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