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Anorectal Anomaly

Robin T Petroze, Pramod S Puligandla
Preoperative assessment of surgical neonates often relates to issues of prematurity, low birth weight, or associated malformations. This review explores the preoperative cardiopulmonary evaluation in specific newborn surgical populations, the role of echocardiography in congenital diaphragmatic hernia perioperative management, the impact of bronchopulmonary dysplasia in the ex-preterm surgical neonate and a brief discussion on the risk of general anesthesia and specific anesthetic considerations for any surgical neonate...
February 2019: Seminars in Pediatric Surgery
S Islam, S A Talukder, A A Mahmud, S C Das, S Bari, M S Ali, A B Shamsuzzaman, A S Hasnuzzaman
The standard treatment of high variety anorectal malformation (ARM) is the staged approach. A growing interest in one stage correction of high variety ARM was noted recently. The aim of this study was to examine the feasibility, safety and outcome of single stage correction of High variety ARM. This prospective study was carried out in the Department of Paediatric Surgery, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh from July 2012 to September 2013. It was conducted among 30 patients, all having high ARM...
January 2019: Mymensingh Medical Journal: MMJ
Marjolein Husen, Pauline C Schut, Adriana C H Neven, Nagma Yousoufi, Nanko de Graaf, Cornelius E J Sloots, Alex J Eggink, Titia E Cohen-Overbeek
OBJECTIVE: To investigate the origin and outcome in a cohort of male and female fetuses with intra-abdominal cysts, in order to provide recommendations on management and to improve prenatal counselling. METHODS: From 2002 to 2016, intra-abdominal cysts were detected by ultrasound in 158 fetuses. Cases with an umbilical vein varix were excluded. Fetal, neonatal, and maternal characteristics were retrieved from electronic patient files. RESULTS: In female fetuses (n = 114), intra-abdominal cysts were diagnosed at a later gestational age compared with male fetuses (n = 44) (median 32...
January 10, 2019: Fetal Diagnosis and Therapy
Jessica Diaz, Blanche Chavers, Srinath Chinnakotla, Priya Verghese
In this single-center retrospective study, we analyzed kidney transplant outcomes in nine pediatric patients with VACTERL [vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities] association-making this the largest study of its kind. Of 743 pediatric kidney transplant recipients at our center (1980-2017), nine had documented diagnoses of VACTERL association. All nine had congenital anorectal malformations and renal anomalies, five had vertebral defects, and one had a bifid thumb and tracheoesophageal fistula...
March 2019: Pediatric Transplantation
Dawn H Siegel
Infantile hemangiomas (IH) are the most common vascular tumor of infancy with an estimated 80,000 annual diagnoses in the United States. The genetic mechanisms underlying IH and the related multi-organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain malformations, segmental facial Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies, and sternal clefting or supraumbilical raphe) and LUMBAR (an acronym for Lower body hemangiomas, Urogenital anomalies, Myelopathy, Bone deformities, Anorectal malformations/Arterial anomalies, Renal anomalies) remain unsolved...
December 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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)...
February 2019: 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
Patients born with complex anorectal malformations often have associated Müllerian anomalies, which might affect fertility and obstetrical outcomes. Other vertebral-anorectal-tracheoesophageal-renal-limb associations, such as renal or cardiac anomalies, could also affect pregnancy intention, fertility rates, and recommendations about mode of delivery or obstetrical outcomes. Associated conditions present at birth, like hydrocolpos, could also potentially affect fertility. Depending on the complexity of the anomaly, primary reconstruction might include vaginoplasty, vaginal interposition, perineal body reconstruction, and extensive pelvic dissection...
February 2019: 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
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