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Anorectal malformations

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https://www.readbyqxmd.com/read/28320521/differential-mirna-expression-analysis-during-late-stage-terminal-hindgut-development-in-fetal-rats
#1
Shuguang Jin, Junxiang Wang, Hong Chen, Bo Xiang
BACKGROUND: Terminal hindgut deformity is the leading digestive tract malformation, however, the etiology and pathogenesis remained unknown. To date, gene expression abnormalities were considered the primary cause of these diseases. miRNAs have been found to play an important role in regulating the expression of genes. METHODS: A total of 24 pregnant rats were randomly divided into two groups. The experimental group (n=12) received 1% ethylenethiourea (125mg/kg) by gavage on gestational day 11, while the control group (n=12) received the same volume of distilled water...
March 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28302363/new-surgical-technique-for-creation-of-a-continent-appendicostomy-invaginated-appendicostomy
#2
Maria Zornoza, Alejandro Ruiz-Montañez, Guillermo Victoria-Morales, Luis De la Torre-Mondragón
INTRODUCTION: The main complications of appendicostomy are stenosis and stomal fecal leakage. Although many authors report that the appendix is naturally continent, it is recommended to perform a plication of the cecum with the appendix to prevent stomal fecal leakage. We present here the creation of a different continent mechanism. Our technique is advantageous when the anatomy, vascularity, or the length of the appendix does not allow for a standard plication procedure. DESCRIPTION OF OPERATIVE TECHNIQUE: During 2014-2016 we performed four appendicostomies in patients with anorectal malformations with fecal incontinence that requested an "Antegrade Continent Enema" procedure after a successful bowel management program in the Colorectal Center for Children of Mexico...
March 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28289973/a-novel-laparoscopic-technique-for-anorectal-malformation-with-low-recto-bulbar-fistulae
#3
Mei Diao, Long Li, Kao-Ping Guan, Zhen Zhang, Wei Cheng
BACKGROUND: The repair of anorectal malformation (ARM) with low recto-bulbar fistula (bowel-to-skin distance: 1-1.5 cm) is contraindicated for laparoscopy due to the difficulty in exposing the fistulae. Posterior or anterior sagittal anorectoplasty is thus conventionally carried out for low recto-bulbar fistula repair. However, these procedures carry the potential risk of wound infection/dehiscence and incontinence. We have developed a single-incision laparoscopic-assisted perineal anorectoplasty (SILPARP) technique...
March 13, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28280513/spectrum-of-congenital-anomalies-among-surgical-patients-at-a-tertiary-care-centre-over-4-years
#4
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/28260053/spatiotemporal-expression-of-wnt3a-during-striated-muscle-complex-development-in-rat-embryos-with-ethylenethiourea-induced-anorectal-malformations
#5
Yuanyuan Geng, Jie Mi, Hong Gao, Huimin Jia, Weilin Wang
Numerous patients with anorectal malformations (ARMs) continue to experience fecal incontinence and constipation following surgical procedures. One of the most important factors that influences defecation is the striated muscle complex (SMC). Wnt signaling regulates the expression of myogenic regulatory factors, which serve an important role in muscle development. Therefore, the present study aimed to investigate the expression pattern of Wnt3a protein (by immunohistochemistry and western blot analysis) and mRNA [by reverse transcription‑quantitative polymerase chain reaction (RT-qPCR)] in the SMC of ARM model rats that were exposed to ethylenethiourea...
February 15, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28259380/loop-versus-divided-colostomy-for-the-management-of-anorectal-malformations-a-systematic-review-and-meta-analysis
#6
Fouad Youssef, Ghaidaa Arbash, Pramod S Puligandla, Robert J Baird
BACKGROUND: The ideal colostomy type for patients with anorectal malformations (ARM) is undetermined. We performed a systematic review and meta-analysis of short-term complications comparing loop and divided colostomies. METHODS: After review registration (PROSPERO: CRD42016036481), multiple databases were searched for comparative studies without language or date restrictions. Gray literature was sought. Complications investigated included stomal prolapse/hernia/retraction, wound infections, and urinary tract infections (UTIs)...
February 20, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28257310/prenatal-diagnosis-of-vesicorectal-fistula
#7
Patricia Correia, Marta Moreira, Maria Rodrigues, Gonçalo Inocêncio
Anorectal malformations are a rare condition difficult to diagnose in the prenatal period. It can be suspected if distal bowel appears dilated in the first-trimester ultrasound or if intraluminal echogenic foci are detected during the second-trimester scan. We report a case with these ultrasound signs (dilated sigmoid at the first trimester and intraluminal echogenic calcifications at the second trimester), in which a vesicorectal fistula image was obtained. This is the first published prenatal image of a vesicorectal fistula...
March 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28255963/erratum-menstrual-sexual-and-obstetrical-outcomes-after-vaginal-replacement-for-vaginal-atresia-associated-with-anorectal-malformation
#8
Clare Skerritt, Alejandra Vilanova Sánchez, Victoria Alison Lane, Richard J Wood, Geri D Hewitt, Lesley L Breech, Marc Levitt
No abstract text is available yet for this article.
March 2, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28209955/-the-complications-of-intestinal-stoma-in-children
#9
S V Minaev, N I Bykov, A V Isaeva, A V Kachanov, E A Tovkan, N V Filip'yeva, I N Gerasimenko
AIM: To investigate the complications of intestinal stoma in children and to develop measures for decrease of their incidence. MATERIAL AND METHODS: The study included 152 children with congenital and acquired gastrointestinal pathology requiring surgical treatment with the imposition of intestinal stoma. Atresia of intestinal tube was observed in 28 (18.4%) children, meconium ileus - in 10 (6.6%) cases, Hirschsprung's disease - in 11 (7.2%)cases, anorectal malformations - in 39 (25...
2017: Khirurgiia
https://www.readbyqxmd.com/read/28191911/mutations-of-myh14-are-associated-to-anorectal-malformations-with-recto-perineal-fistulas-in-a-small-subset-of-chinese-population
#10
Zhongxian Zhu, Lei Peng, Guanglin Chen, Weiwei Jiang, Ziyang Shen, Chunxia Du, Rujin Zang, Yang Su, Hua Xie, Hongxing Li, Yankai Xia, Weibing Tang
Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. Here, we first performed whole-exome sequencing in a non-consanguineous Chinese family and the result revealed a homozygous mutation (GenBank: NM_001077186; c.5393C>A[p.Ala1806Asp]) in MYH14, which encodes one of the NM II heavy chain (NMHC II) proteins playing vital roles in cell adhesion and migration...
February 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28129770/validation-of-the-french-versions-of-the-hirschsprung-s-disease-and-anorectal-malformations-quality-of-life-haql-questionnaires-for-adolescents-and-adults
#11
Corine Baayen, Fanny Feuillet, Pauline Clermidi, Célia Crétolle, Sabine Sarnacki, Guillaume Podevin, Jean-Benoit Hardouin
BACKGROUND: The Hirschsprung's disease Anorectal malformation QoL questionnaire (HAQL) is a disease-specific quality of life (QoL) questionnaire for patients with Hirschsprung's disease (HD) or anorectal malformations (ARM). It was originally proposed in Dutch and is currently being translated into other languages to obtain an internationally standardized instrument. In this work we validate a French adaptation of the HAQL for adolescents and adults. METHODS: The questionnaires were translated into French and sent to patients aged 12 years and older, followed for HD or ARM at three French university hospitals...
January 28, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28115405/residual-terminal-bowel-fistulating-into-the-alimentary-tract-a-hitherto-unreported-complication-of-surgery-for-anorectal-malformation
#12
Sudipta Sen, Pavai Arunachalam, Cenita J Sam, Harshjeet Singh Bal
The residual terminal bowel after pull-through surgery for anorectal malformation has been reported to cause urinary complications. We report two boys where residual bowel has fistulated postoperatively into the alimentary tract causing metabolic and septic complication in one and a large pelvic mass with urinary and rectal obstruction in the other.
January 23, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28103464/-perineal-groove-a-rare-congenital-anomaly
#13
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
#14
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
#15
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/28070723/anorectal-malformations-definitive-surgery-during-adulthood
#16
M P J Lopez, V I Encila, S G Alamo, H J Monroy Iii, M F T Roxas
BACKGROUND: Anorectal malformations (ARMs) are rarely seen in adults, since majority of cases are corrected in infancy or childhood. The aim of this study was to describe the profile of patients who underwent definitive surgery to correct their ARM in adulthood, and to discuss the outcomes of surgery (morbidity, mortality, and function). METHODS: This retrospective study included patients 18 years old and above, managed surgically by the Division of Colorectal Surgery at the Philippine General Hospital, University of the Philippines, Manila, from January 1, 2004, to December 31, 2012...
January 9, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28065717/muscle-complex-saving-posterior-sagittal-anorectoplasty
#17
Maher Zaiem, Feras Zaiem
INTRODUCTION: Posterior sagittal anorectoplasty (PSARP) published by DeVries and Peña in 1982 had become the preferred surgical technique for the management of anorectal malformations (ARM). The original technique is based upon complete exposure of the anorectal region by means of a median sagittal incision that runs from the sacrum to the anal dimple, cutting through all muscle structures behind the rectum by dividing the levator muscle and the muscle complex. Then, the rectum is located in front of the levator and within the limits of the muscle complex...
December 27, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28057877/previous-miscarriages-and-gli2-are-associated-with-anorectal-malformations-in-offspring
#18
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
https://www.readbyqxmd.com/read/28051043/experience-with-neonatal-hydrometrocolpos-in-the-niger-delta-area-of-nigeria-upsurge-or-increased-recognition
#19
Philemon Ekemenye Okoro, C Obiorah, C E Enyindah
BACKGROUND: Hydrometrocolpos (HMC) is a clinical condition in which there is a cystic distension of the vagina (hydrocolpos), uterus and sometimes, fallopian tubes (hydrosalpinx) with fluid. This study described our experience with cases of HMC seen in our practice, and highlighted the flare in our practice. PATIENTS AND METHODS: A retrospective study of cases of HMC managed at the University of Port Harcourt Teaching Hospital between September 2010 and August 2012...
October 2016: African Journal of Paediatric Surgery: AJPS
https://www.readbyqxmd.com/read/28035463/sacral-nerve-stimulation-for-faecal-incontinence-in-patients-with-sacral-malformation
#20
M Brunner, Z Cui, K E Matzel
INTRODUCTION: Sacral nerve stimulation (SNS) is a common and effective treatment for faecal incontinence (FI), but accessibility of the sacral nerves is mandatory. In some cases, electrode placement fails for unknown reasons. A frequent cause could be sacral malformations, which have a high incidence (up to 24.1%) and can be unsuspected. METHODS AND RESULTS: We report two patients with FI consequent to congenital anorectal malformation and associated sacral malformation...
December 30, 2016: International Journal of Colorectal Disease
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