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Anorectal malformations

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https://www.readbyqxmd.com/read/28209955/-the-complications-of-intestinal-stoma-in-children
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28018799/caudal-duplication-syndrome-the-vital-role-of-a-multidisciplinary-approach-and-staged-correction
#13
Inbal Samuk, Marc Levitt, Elena Dlugy, Dragan Kravarusic, David Ben-Meir, Gustavo Rajz, Osnat Konen, Enrique Freud
Caudal duplication syndrome is a rare entity that describes the association between congenital anomalies involving caudal structures and may have a wide spectrum of clinical manifestations. A full-term male presented with combination of anomalies including anorectal malformation, duplication of the colon and lower urinary tract, split of the lower spine, and lipomyelomeningocele with tethering of the cord. We report this exceptional case of caudal duplication syndrome with special emphasis on surgical strategy and approach combining all disciplines involved...
December 2016: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28000199/-meta-analysis-of-incidence-of-postoperative-complications-for-the-modified-posterior-sagittal-anorectoplasty-treatment-of-intermediate-or-high-anorectal-malformations
#14
Liqiong Duan, Hongxia Ren, Xiaobing Sun
OBJECTIVE: To evaluate the incidence of postoperative complications of children with intermediate or high anorectal malformations treated by one-stage modified posterior sagittal anorectoplasty(PSARP) by meta-analysis. METHODS: Cases with intermediate or high anorectal malformations treated by one-stage modified PSARP nearly a decade at home and abroad were collected by searching in Wanfang Data, CNKI, and PubMed database, then all the papers that recorded the number of cases of postoperative complications were screened out according to inclusion and exclusion criteria...
December 25, 2016: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/27989362/complications-in-colorectal-surgery
#15
Jason S Frischer, Beth Rymeski
Colorectal pediatric surgery is a diverse field that encompasses many different procedures. The pullthrough for Hirschsprung disease, the posterior sagittal anorectoplasty for anorectal malformations including complex cloaca reconstructions and the ileal pouch anal anastomosis for ulcerative colitis and familial adenomatous polyposis present some of the most technically challenging procedures pediatric surgeons undertake. Many children prevail successfully following these surgical interventions, however, a small number of patients suffer from complications following these procedures...
December 2016: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/27928719/correlation-between-quality-of-life-and-functional-outcomes-in-operated-children-with-anorectal-malformations-using-the-krickenbeck-consensus
#16
V Shankar Raman, Sandeep Agarwala, Veereshwar Bhatnagar
OBJECTIVE: To correlate the functional outcomes in children operated for anorectal malformations (ARM) using the Krickenbeck consensus and their quality of life (QOL). METHODS: Thirty-three children operated at a tertiary care Pediatric surgery centre were studied 2 y after completion of all the surgeries and if more than 3 y of age. The functional stooling outcomes, type of anomalies and surgical procedures were tabulated using the Krickenbeck classification. The QOL questionnaire consisted of five parameters (Social habit, school attendance, daily activity, relation to peers and feeling) and the scoring ranged between 0 and 12: Good (8-12), Fair (5-7) and Poor (0-4)...
December 8, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27916192/long-term-outcome-of-bowel-function-for-110-consecutive-cases-of-hirschsprung-s-disease-comparison-of-the-abdominal-approach-with-transanal-approach-more-than-30years-in-a-single-institution-is-the-transanal-approach-truly-beneficial-for-bowel-function
#17
COMPARATIVE STUDY
Shun Onishi, Kazuhiko Nakame, Kouji Yamada, Waka Yamada, Takafumi Kawano, Motoi Mukai, Tatsuru Kaji, Satoshi Ieiri
BACKGROUND: We compared the long-term outcomes of the bowel function (BF) in Hirschsprung's disease (HD) patients who underwent transanal endorectal pull-through (TA) with those who underwent the Soave-Denda (SD) procedure. METHODS: Patient data were collected from 1984 to 2015 from 110 HD patients who underwent definitive diagnosis and operation. The follow-up data were analyzed retrospectively. BF was evaluated according to the evacuation score (ES) of the Japan Society of Anorectal Malformation Study Group at 3, 5, 7, 9, and 11years of age...
December 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27915340/2q33-1q34-deletion-in-a-girl-with-brain-anomalies-and-anorectal-malformation
#18
Luisa Ronzoni, Antonio Novelli, Giulia Brisighelli, Angela Peron, Fabio Triulzi, Vera Bianchi, Ernesto Leva, Maria F Bedeschi
2q33 deletions are considered to constitute a distinct clinical entity (Glass syndrome or 2q33 microdeletion syndrome) with a characteristic phenotype. Most patients have moderate to severe developmental delay, speech delay, a particular behavioural phenotype, feeding problems, growth restriction, a typical facial appearance, thin and sparse hair, tooth abnormalities, and skeletal anomalies. Here, we report on a patient with a 2q33.1q34 deletion spanning 8.3 Mb of genomic DNA. Although her clinical features are very reminiscent of the 2q33 microdeletion syndrome, she also presented with brain and anorectal malformations...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27911064/-intestinal-stomas-are-they-as-simple-as-they-seem
#19
P Bragagnini Rodríguez, Y González Ruiz, R Fernández Atuán, N González Martínez-Pardo, P Burgués Prado, J Elías Pollina
OBJECTIVES: To examine the morbidity and mortality of the formation and closure of enterostomies. METHODS: Retrospective study between 2000-2014 of patients younger than 14 years old who underwent an enterostomy. We evaluated: surgical technique, underlying pathology, general and stoma complications, sex, age and weight at the time of formation. At the closure we evaluated: surgical technique, age, weight, hemoglobin, hematocrit and albumin, as well as complications...
January 25, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27903011/transition-risk-assessment-score-to-stratify-health-care-needs-and-interventions-in-adolescents-with-anorectal-malformations-a-pilot-study
#20
Martin J Connor, Laurie Rigueros Springford, Stefano Giuliani
Introduction Anorectal malformations (ARMs) are a complex collection of congenital disorders of the anus, rectum, and genitourinary system with possible active morbidities beyond adolescence. Aims To create the first evidence-based inclusive transition risk assessment score (TRAS) to stratify health care needs and interventions in teenagers with ARM transitioning to adult health care. Method MEDLINE, EMBASE, and the Cochrane Library were searched electronically for original articles containing published scoring systems evaluating children with ARM from January 1, 1990 to December 31, 2013...
November 30, 2016: European Journal of Pediatric Surgery
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