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Anorectal Anomaly

Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth
Anorectal anomalies (ARA) are common congenital anomalies. The etiology of ARA is unclear and its pathogenesis is controversial. Cases with ARA often have other non-ARA-associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with ARA were collected in all live births, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
December 12, 2018: American Journal of Medical Genetics. Part A
Lisa B E Shields, Dennis S Peppas, Eran Rosenberg
Cloacal anomalies (persistent cloaca) represent the most severe form of anorectal malformations in girls where the rectum, urethra, and vagina remain fused together inside the pelvis and drain into a single common perineal orifice. Infants with cloacal anomalies often succumb to poor lung development due to oligohydramnios. Cloacal anomaly in discordant monozygotic twins has rarely been reported in the literature. In this review, we present the first case of persistent cloaca and complete urinary tract obstruction in discordant monoamniotic twins...
December 12, 2018: Urologia Internationalis
Alejandra Vilanova-Sánchez, Carlos Albert Reck, Richard J Wood, Cristina Garcia Mauriño, Alessandra C Gasior, Robert E Dyckes, Katherine McCracken, Laura Weaver, Devin R Halleran, Karen Diefenbach, Dennis Minzler, Rebecca M Rentea, Christina B Ching, Venkata Rama Jayanthi, Molly Fuchs, Daniel Dajusta, Geri D Hewitt, Marc A Levitt
Aim of the study: Many patients with an anorectal malformation (ARM) or pelvic anomaly have associated urologic or gynecologic problems. We hypothesized that our multidisciplinary center, which integrates pediatric colorectal, urologic, gynecologic and GI motility services, could impact a patient's anesthetic exposures and hospital visits. Methods: We tabulated during 2015 anesthetic/surgical events, endotracheal intubations, and clinic/hospital visits for all patients having a combined procedure. Main results: Eighty two patients underwent 132 combined procedures (Table 1)...
2018: Frontiers in Surgery
Pritesh Jain, Debansu Sarkar, Krishnendu Maiti, Sandeep Gupta, Dilip Kumar Pal
OBJECTIVE: Purpose of our study was to aggregate and analyse rare cases of Ectopic Ureter (EU), their association with other anomalies, clinical features, diagnosis and management. MATERIAL AND METHODS: A total of nine patients with rare presentation of EU were evaluated. Combination of endoscopic and imaging modalities was used as required to define the anatomy and devise the best surgical approach in these cases. RESULTS: Among six females and three males with EU, four cases had bilateral EU, four unilateral EU and one case had EU of a solitary kidney...
November 21, 2018: Turkish Journal of Urology
Lindel Dewberry, Alberto Peña, David Mirsky, Jill Ketzer, Andrea Bischoff
PURPOSE: Sacral abnormalities range from missing the coccyx, a few sacral vertebrae, or hemi-sacrum, to complete absence with fused iliac bones. The purpose of this study was to review the association between sacral agenesis and fecal incontinence to help inform patient prognosis. METHODS: A retrospective review was performed of patients who presented for bowel management due to sacral agenesis at a tertiary care children's hospital between 2016 and 2017 (n = 10)...
November 3, 2018: Pediatric Surgery International
Takehiro Michikawa, Shin Yamazaki, Masaji Ono, Tatsuo Kuroda, Shoji F Nakayama, Eiko Suda, Tomohiko Isobe, Miyuki Iwai-Shimada, Yayoi Kobayashi, Kenji Tamura, Junzo Yonemoto, Toshihiro Kawamoto, Hiroshi Nitta
Current evidence suggests that the aetiology of congenital gastrointestinal (GI) tract atresia is multifactorial, and not based solely on genetic factors. However, there are no established modifiable risk factors for congenital GI tract atresia. We used data from a Japanese nationwide birth cohort study launched in 2011, and examined whether fish consumption in early pregnancy was associated with congenital GI tract atresia. We analysed data of 89 495 women (mean age at delivery=31·2 years) who delivered singleton live births without chromosomal anomalies...
October 29, 2018: British Journal of Nutrition
Alejandra Vilanova-Sanchez, Katherine McCracken, Devin R Halleran, Richard J Wood, Carlos A Reck-Burneo, Marc A Levitt, Geri Hewitt
BACKGROUND: Patients born with complex anorectal malformations often have associated Mullerian anomalies, which may impact both fertility and obstetrical outcomes. Other VACTERL associations, such as renal or cardiac anomalies, could also impact pregnancy intention, fertility rates, and recommendations about mode of delivery or obstetrical outcomes. Associated conditions present at birth, like hydrocolpos, could also potentially impact fertility. Depending on the complexity of the anomaly, primary reconstruction may include vaginoplasty, vaginal interposition, perineal body reconstruction, and extensive pelvic dissection...
October 24, 2018: Journal of Pediatric and Adolescent Gynecology
Chen Qian, Zhongluan Wu, Roy Chun-Laam Ng, Maria-Mercè Garcia-Barceló, Zheng-Wei Yuan, Kenneth Kak Yuen Wong, Paul Kwong Hang Tam, Vincent Chi Hang Lui
In mammals, urorectal development starts at early embryonic stage, defective urorectal development results in anorectal malformations, which are common congenital developmental defects of the anus and the urethra in newborns. The etiology and embryology of the defects are still largely unknown. Platelet-derived growth factor receptor alpha (Pdgfra) is a cell surface receptor tyrosine kinase, upon binding to its ligands (Pdgfa-d), mediates intracellular signaling and regulates embryonic development. The expression of Pdgfra is tightly regulated in the developing urorectal mesenchyme, and its dysregulation is associated with urorectal defects in animals with urorectal defects...
October 15, 2018: Cell Death and Differentiation
Yi-Ming Su, Yan Lin, Shu-Qiang Chen, Hong-Yi Yang, Guo-Rong Lv, Jin-Rong Lin
OBJECTIVES: To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia. METHODS: Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20-38 weeks), including low- and high-risk populations using 2-dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum...
October 2, 2018: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Laura V Veras, Justin R Smith, Ankush Gosain
INTRODUCTION: Patients with anorectal malformations (ARM) often have associated congenital anomalies and should undergo several screening exams in the first year of life. We hypothesized that racial and socioeconomic disparities exist in the screening processes for these patients. METHODS: After IRB approval, a retrospective review of patients with ARM born between 2005 and 2016 was performed at a quaternary care children's hospital. Demographics including gender, race, insurance, and zip code were collected...
November 2018: Journal of Surgical Research
Tetsuya Ishimaru, Hiroshi Kawashima, Takahisa Tainaka, Keisuke Suzuki, Shohei Takami, Tomo Kakihara, Reiko Katoh, Tomohiro Aoyama, Hiroo Uchida, Tadashi Iwanaka
AIM: This study aimed to compare the surgical outcomes of patients with the intermediate-type imperforate anus who underwent laparoscopically assisted anorectoplasty (LAARP; L group) with those of patients who underwent sacroperineal anorectoplasty (S group). MATERIALS AND METHODS: The medical records of patients with intermediate-type imperforate anus at a single institution between April 1983 and April 2017 were retrospectively reviewed. Fecal continence was evaluated using the clinical assessment score for fecal continence developed by the Japanese Study Group of Anorectal Anomalies (maximum score, 8)...
October 2, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
Simón Pedro Lubián López, Amaya Zuazo Ojeda, Gema Jimenez Gómez, Isabel Benavente Fernández
Background  Neonatal encephalopathy with seizures after general anesthesia not occurring in infants undergoing cardiac or major neurosurgery is very uncommon. An ischemic origin due to cerebral hypoperfusion from perioperative hypotension has been suggested, but there is a lack of a consensus definition for intraoperatory hypotension in neonates. Case Report  We report the first case of neonatal encephalopathy with seizures in a neonate with anorectal malformation. He underwent a colostomy with caudal anesthesia combined with light general anesthesia...
July 2018: American Journal of Perinatology Reports
Sonal Gupta, Nidhi Gupta, Pradeep Tiwari, Saji Menon, Praveen Mathur, Shanker Lal Kothari, Sivaramaiah Nallapeta, Krishna Mohan Medicherla, Prashanth Suravajhala
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)...
September 17, 2018: Biomolecules
Peter Mallett, Caroline Hart, Josip Marjanovic, Damian Maguire, Majella McCullagh, Andrew Thompson
QUESTION 1: Which procedure may have been most appropriate to offer an initial clue to her diagnosis? Abdominal X-ray. Digital rectal examination. Perianal swab for streptococcal infection. Sweat test. Ultrasound scan of the abdomen. At 6 months of age, she presented with a second abscess, constipation and poor weight gain. QUESTION 2: What is the most likely diagnosis?  Congenital anorectal anomaly. Cow's milk protein allergy. Hirschsprung's disease. Immunodeficiency disorder. Infantile perianal Crohn's disease...
September 3, 2018: Archives of Disease in Childhood. Education and Practice Edition
Andrea Bischoff, John Bealer, Alberto Peña
Anorectal malformations are uncommon but complex congenital anomalies that require an individualised strategy of care for each step of the treatment process. These steps, which include preoperative evaluation, operative reconstruction, and postoperative care, are each unique and vitally important to overall patient outcomes. In this Review, we discuss some of the pivotal decisions that should be made at each stage of patient care. Through this process, we highlight some of the more controversial aspects of caring for patients with anorectal malformation and offer insights into various management philosophies...
December 2017: Lancet Child & Adolescent Health
Boris Groisman, María Paz Bidondo, Santiago Duarte, Agostina Tardivo, Pablo Barbero, Rosa Liascovich
The objective of the study is to present the frequency of congenital anomalies (CA) reported to the National Network of Congenital Anomalies of Argentina (RENAC) in the year 2016, as part of its monitoring activities. RENAC is an official, national and hospital-based surveillance system of CA. The case definition includes newborns with major structural CA, external or internal, identified from birth until hospital discharge and detected by physical examination, complementary studies, interventions or autopsy...
2018: Medicina
Michael D Cearns, Samantha Hettige, Paolo De Coppi, Dominic N P Thompson
OBJECTIVE It is well established that Currarino syndrome (CS) may be associated with spinal dysraphism. Here, the authors report on 10 CS patients with dysraphic anomalies who had undergone a combined neurosurgical and general surgical approach to repair the dysraphic anomalies and resect the presacral mass in a single operation. They discuss the spectrum of spinal dysraphism that may coexist in CS in the context of its developmental etiology. METHODS Children with a confirmed CS diagnosis who had undergone the combined operative approach were identified from a departmental database...
August 10, 2018: Journal of Neurosurgery. Pediatrics
A K Ebert, N Zwink, E Jenetzky, R Stein, T M Boemers, M Lacher, C Fortmann, F Obermayr, M Fisch, K Mortazawi, E Schmiedeke, V Eisenschmidt, M Schäfer, K Hirsch, W H Rösch, H Reutter
OBJECTIVES: To further investigate associated anomalies in EEC patients CURE-Net database was systematically screened. In literature the exstrophy-epispadias complex (EEC) comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields. PATIENTS AND METHODS: 73 prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analysed...
August 1, 2018: Urology
Madhusmita, Rohini G Ghasi, M K Mittal, Deepak Bagga
Purpose: To evaluate the spectrum of magnetic resonance imaging (MRI) findings in pediatric patients with anorectal malformation (ARM) and compare the accuracy of MRI and distal cologram (DC) findings using surgery as reference standard. Materials and Methods: Thirty pediatric patients of age less than 14 years (19 boys and 11 girls) with ARM underwent preoperative MRI. MRI images were evaluated for the level of rectal pouch in relation to the pelvic floor, fistula, and development of sphincter muscle complex (SMC)...
April 2018: Indian Journal of Radiology & Imaging
Yasmine Yousef, Angela Lee, Frehun Ayele, Dan Poenaru
BACKGROUND: The purpose of this study was to estimate the unmet burden of surgically correctable congenital anomalies in African low- and middle-income countries (LMICs). METHODS: We conducted a chart review of children operated for cryptorchidism, isolated cleft lip, hypospadias, bladder exstrophy and anorectal malformation at an Ethiopian referral hospital between January 2012 and July 2016 and a scoping review of the literature describing the management of congenital anomalies in African LMICs...
June 27, 2018: Journal of Pediatric Surgery
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