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https://www.readbyqxmd.com/read/28456592/whole-exome-sequencing-of-sporadic-patients-with-currarino-syndrome-a-report-of-three-trios
#1
Ingunn Holm, Mari Spildrejorde, Barbro Stadheim, Kristin L Eiklid, Pubudu S Samarakoon
Currarino Syndrome is a rare congenital malformation syndrome described as a triad of anorectal, sacral and presacral anomalies. Currarino Syndrome is reported to be both familial and sporadic. Familial CS is today known as an autosomal dominant disorder caused by mutations in the transcription factor MNX1. The aim of this study was to look for genetic causes of Currarino Syndrome in sporadic patients after ruling out other causes, like chromosome aberrations, disease-causing variants in possible MNX1 cooperating transcription factors and aberrant methylation in the promoter of the MNX1 gene...
April 26, 2017: Gene
https://www.readbyqxmd.com/read/28446132/pcsk5-is-required-in-the-early-cranio-cardiac-mesoderm-for-heart-development
#2
Dorota Szumska, Milena Cioroch, Angela Keeling, Annik Prat, Nabil G Seidah, Shoumo Bhattacharya
BACKGROUND: Loss of proprotein convertase subtilisin/kexin type 5 (Pcsk5) results in multiple developmental anomalies including cardiac malformations, caudal regression, pre-sacral mass, renal agenesis, anteroposterior patterning defects, and tracheo-oesophageal and anorectal malformations, and is a model for VACTERL/caudal regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects)...
April 26, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28413309/type-v-congenital-pouch-colon-an-extremely-rare-variant-of-anorectal-malformations
#3
J D Rawat, Sudhir Singh, Nitin Pant, Digamber Chaubey
Type V is the rarest form of congenital pouch colon with only four cases reported till date. We report this anomaly in a 6-month-old boy. He was managed successfully with excision of distal pouch and coloplasty of proximal pouch along with abdominoperineal posterior sagittal anorectoplasty. We recommend preservation of proximal pouch in such cases.
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413307/laparoscopic-assisted-anorectoplasty-a-single-center-experience
#4
Rajamani Gurusamy, S Vijay Raj, Raghul Maniam, S R Regunandan
AIM: To assess the modifications in the technique of laparoscopic-assisted anorectal pull-through (LAARP) practiced at our institute and to analyze the postoperative outcome and associated complications. MATERIALS AND METHODS: A retrospective study was done to analyze the results for LAARP procedure done for high anorectal malformations (ARMs) from January 2001 to May 2016. A total of 68 patients had undergone LAARP, with 62 male and 6 female children. Staged procedure was done in 55 patients and one child with rectovestibular fistula of 5 months of age had a single-stage procedure...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413305/solitary-functioning-kidney-in-high-anorectal-malformation
#5
Kanishka Das, Srinivas Raju Rajkiran
AIM: A solitary functioning renal unit in high anorectal malformation may harbor anomalies in the upper/lower urinary tract that further compromise renal function and accelerate hyperfiltration injury. We aimed to analyze the clinical course, management, and outcome of children with a solitary renal unit and high anorectal malformation. MATERIALS AND METHODS: A cohort of solitary renal units in anorectal malformation managed between 2000 and 2015 with a defined protocol at a pediatric nephro-urology clinic are included in the study...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413304/simultaneous-single-staged-repair-of-anorectal-malformation-with-tracheoesophageal-fistula-lessons-learned
#6
Ajay Narayan Gangopadhyay, Vaibhav Pandey
INTRODUCTION: Anorectal malformation (ARM) associated esophageal atresia (EA) with tracheoesophageal fistula (TEF) spawns special therapeutic propositions. The outcome of these patients banks on numerous factors. We performed this study with an aim to compare the outcome of single-staged simultaneous primary repair of both anomalies versus staged repair of these disorders. MATERIALS AND METHODS: Retrospective review of cases with ARM and associated EA with TEF managed over a period of 5 years from July 2010 to June 2015 after ethical approval was undertaken...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413301/anorectal-malformations-in-males-pros-and-cons-of-neonatal-versus-staged-reconstruction-for-high-and-intermediate-varieties
#7
Prema Menon, Katragadda Lakshmi Narasimha Rao, Amit Kumar Sinha, K Lokesha, Ram Samujh, Jai Kumar Mahajan, Ravi Prakash Kanojia, Monika Bawa
BACKGROUND: High and intermediate types of anorectal malformations (ARMs) in male neonates may be managed either by primary neonatal reconstruction without colostomy cover or by traditional policy of staged reconstruction after neonatal colostomy. Posterior sagittal anorectoplasty (PSARP) is the current widely practiced reconstructive technique with varied results. AIM: To assess our functional results of PSARP without colostomy in male neonates with high and intermediate ARMs compared to 3-stage (neonatal colostomy - PSARP - colostomy closure) methodology in a high volume tertiary care institution of a developing country...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413300/anorectal-agenesis-with-rectovaginal-fistula-a-rare-regional-variant
#8
Subhasis Roy Choudhury, Niyaz Ahmed Khan, Pinaki Ranjan Debnath, Partap Singh Yadav, Shalu Shah, Rajiv Chadha
AIMS AND OBJECTIVES: The anatomical types of female anorectal malformation (ARM) are complex and include several rare and regional variants. The aim of this report is to highlight the diagnosis and management of cases of anorectal agenesis with rectovaginal fistula (RVF). MATERIALS AND METHODS: This is a retrospective chart review of cases of RVF who underwent definitive surgery between November 2000 and September 2016 in a single institution. RESULTS: Of the 244 female patients with anorectal anomalies treated in our institution over a 16-year period, there were 15 cases of RVF with anorectal agenesis giving it an incidence of 6%...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28399120/sotos-syndrome-associated-with-hirschsprung-s-disease-a-new-case-and-exome-sequencing-analysis
#9
Cherry Ann Sio, Kyuwhan Jung, Jeong-Hyun Kim, Hyun Sub Cheong, Eun Shin, Hyejin Jang, Miok Yoon, Huijeong Jang, Hyoung Doo Shin
BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR) and subsequent genetic analysis.MethodsA 2-year-old boy with SoS experienced constipation since infancy and ultimately showed an aganglionic segment in the histopathologic examination, which was followed by exome-sequencing analysis...
May 3, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#10
Yue-Ping Wang, Da-Jia Wang, Zhi-Bin Niu, Wan-Ting Cui
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31‑qter; 20...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28319023/isolated-bilateral-simplex-ureteric-ectopia-bladder-capacity-as-an-indicator-of-continence-outcome
#11
Vasilis Stavrinides, Paul Charlesworth, Dan Wood, Divyesh Desai, Abraham Cherian, Imran Mushtaq, Peter Cuckow, Naima Smeulders
INTRODUCTION: Isolated bilateral simplex ectopic ureters (BSEUs) are rare but pose a therapeutic challenge: ureteric reimplantation alone does not accomplish continence in all. Identifying the patients needing additional procedures for continence early could prevent multiple operations. OBJECTIVE: Potential preoperative indicators for postoperative continence are explored in eight BSEU girls without cloacal, anorectal, or spinal anomalies. STUDY DESIGN: With institutional approval, all patients with BSEU between 1985 and 2012 were retrospectively reviewed...
March 6, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28280513/spectrum-of-congenital-anomalies-among-surgical-patients-at-a-tertiary-care-centre-over-4-years
#12
Arushi Agarwal, K N Rattan, Ankur Dhiman, Ananta Rattan
Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted...
2017: International Journal of Pediatrics
https://www.readbyqxmd.com/read/28242026/surgical-approach-for-fecal-incontinence-with-a-patulous-anus-after-transanal-pull-through-for-hirschsprung-disease
#13
Yoshitomo Yasui, Syoichi Nishida, Tsubasa Shironomae, Miwa Satomi, Tsuyoshi Kuwahara, Miyuki Kohno
BACKGROUND: We have performed transanal pull-through (TAPT) for Hirschsprung disease since 1998. Some of our patients after TAPT showed a patulous anus and suffered from severe true fecal incontinence. We performed anal canal plasty for these patients and evaluated its efficacy in restoring anorectal function. METHODS: Thirty-one patients who were ≥5years old were previously operated on for Hirschsprung disease, and seven (22.5%) of these were indicated for this procedure...
February 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28216077/prenatal-diagnosis-and-outcome-of-fetal-gastrointestinal-obstruction
#14
Patricio E Lau, Stephanie Cruz, Christopher I Cassady, Amy R Mehollin-Ray, Rodrigo Ruano, Sundeep Keswani, Timothy C Lee, Oluyinka O Olutoye, Darrell L Cass
INTRODUCTION: The purpose of this study was to evaluate the accuracy of prenatal diagnosis for fetuses with gastrointestinal (GI) obstruction with correlation to postnatal outcomes. METHODS: Fetuses diagnosed with GI obstruction (excluding esophageal and duodenal) were reviewed for those evaluated between 2006 and 2016. Prenatal diagnosis and imaging studies were compared to postnatal findings. Outcomes evaluated included diagnostic accuracy, rate of other anomalies, neonatal length of stay, incidence of short bowel syndrome, and discharge with TPN or gastrostomy...
May 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28128702/new-classification-of-spinal-lipomas-based-on-embryonic-stage
#15
Nobuhito Morota, Satoshi Ihara, Hideki Ogiwara
OBJECTIVE Spinal lipomas are generally thought to occur as a result of failed primary neurulation. However, some clinical features cannot be explained by this theory. The authors propose a novel classification of spinal lipomas based on embryonic changes seen during primary and secondary neurulation. METHODS A total of 677 patients with occult spinal dysraphism underwent 699 surgeries between August 2002 and May 2015 at the National Center for Child Health and Development and Tokyo Metropolitan Children's Medical Center...
April 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28103464/-perineal-groove-a-rare-congenital-anomaly
#16
Manuel Barbosa, Nuno Alves, Natacha Fontes
Perineal groove is a rare congenital anorectal malformation, with incidence yet undetermined. It is almost exclusive to the female newborn and its embryogenic origin remains uncertain. We present a case-report of a newborn girl that was discharged from the nursery without complications. At her first appointment at primary care we noted a wet sulcus connecting the posterior vaginal commissure and the anus. This case report emphasizes the rarity of the perineal groove and the importance of a good quality history and physical examination at primary care...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28099464/laparoscopically-assisted-anorectal-pull-through-versus-posterior-sagittal-anorectoplasty-for-high-and-intermediate-anorectal-malformations-a-systematic-review-and-meta-analysis
#17
Yijiang Han, Zhaobo Xia, Shikun Guo, Xiangbo Yu, Zhongrong Li
OBJECTIVE: Anorectal malformations (ARMs) are one of the commonest anomalies in neonates. Both laparoscopically assisted anorectal pull-through (LAARP) and posterior sagittal anorectoplasty (PSARP) can be used for the treatment of ARMs. The aim of this systematic review and meta-analysis is to compare these two approaches in terms of intraoperative and postoperative outcomes. METHODS: MEDLINE, Embase, Web of Science and the Cochrane Library were searched from 2000 to August 2016...
2017: PloS One
https://www.readbyqxmd.com/read/28081578/birth-prevalence-of-anorectal-malformations-for-the-western-cape-province-south-africa-2005-to-2012
#18
Andre Theron, Alp Numanoglu
Introduction Anorectal malformations (ARMs) are a major birth anomaly worldwide. South Africa has ethnically and geologically diverse populations. A recent publication indicated an increased birth prevalence of ARMs in the Witwatersrand referral area between 2005 and 2010. The purpose of this study was to determine the birth prevalence of ARM and its various subtypes in the Western Cape referral district over an 8-year period. Methods For an 8-year period from January 1, 2005, to December 31, 2012; retrospective data were collected from the Pediatric Surgical Departments of Red Cross War Memorial Children's Hospital, Tygerberg Children's Hospital, as well as the private sector health registries...
January 12, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28065719/the-currarino-triad-what-pediatric-surgeons-need-to-know
#19
Amr Abdelhamid AbouZeid, Shaimaa Abdelsattar Mohammad, Mohammad Abolfotoh, Ahmed Bassiouny Radwan, Mohamed Mohamed ElSayed Ismail, Tarek Ahmed Hassan
PURPOSE: We report our experience in managing a group of patients with Currarino syndrome, highlighting diagnostic challenges, surgical techniques, in addition to a review of current neurosurgical options. PATIENTS AND METHODS: The study included patients with Currarino syndrome who presented to our pediatric surgery department during the period 2010 through 2016. The 'sacral scimitar' in plain X-ray provided the clue for the diagnosis; while MRI examination was essential to define the nature of the presacral mass and associated spinal anomalies...
December 27, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28057877/previous-miscarriages-and-gli2-are-associated-with-anorectal-malformations-in-offspring
#20
Romy van de Putte, Charlotte H W Wijers, Ivo de Blaauw, Carlo L M Marcelis, Cornelius E J Sloots, Alice S Brooks, Paul M A Broens, Nel Roeleveld, Loes F M van der Zanden, Iris A L M van Rooij
STUDY QUESTION: Are anorectal malformations (ARMs) associated with previous miscarriages or single nucleotide polymorphisms (SNPs) in the Bone Morphogenetic Protein 4 (BMP4) and GLI family zinc finger 2 (GLI2) genes? SUMMARY ANSWER: The SNP rs3738880 in GLI2 and miscarriages were associated with ARM, especially in patients with multiple congenital anomalies (MCA). WHAT IS KNOWN ALREADY: ARM are one of the most common birth defects of the gastrointestinal tract...
January 5, 2017: Human Reproduction
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