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Anorectal malformation

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https://www.readbyqxmd.com/read/28616723/post-operative-strictures-in-anorectal-malformation-trends-over-15%C3%A2-years
#1
Charlotte Holbrook, Devesh Misra, Indre Zaparackaite, Stewart Cleeve
AIM: For decades, paediatric surgeons have employed the standard posterior sagittal anorectoplasty (PSARP) approach to deal with patients with anorectal malformations (ARM). In recent years, we noted an apparent increase in the incidence of anal stricture after surgical repair of ARM following the introduction of laparoscopic pull-through and techniques aiming to preserve the internal sphincter-the internal sphincter sparing approach (ISSA). We decided to analyse our data to find out if these new trends had added to the problem of post-operative strictures...
June 14, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28612626/carcinoid-transformation-of-presacral-dermoid-cyst-in-patient-with-currarino-syndrome-a-case-report
#2
Francesca Colombo, Petr Janous, Neil Buxton
Currarino syndrome (CS) is a congenital disorder characterized by partial sacral agenesis, anorectal malformation and a presacral mass. Only three cases of carcinoid transformation of the presacral mass have been described in the literature. We present a case of carcinoid transformation of presacral dermoid cyst in patient with Currarino syndrome.
June 14, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28612139/anorectal-malformations-associated-congenital-anomalies-and-their-investigation-in-a-south-african-setting
#3
Elmarie Vd Merwe, S Cox, A Numanoglu
PURPOSE: This study was undertaken to investigate the types of anorectal malformations (ARM), incidence of associated abnormalities and investigative methods used in patients treated at Red Cross War Memorial Children's Hospital and to determine whether these are in keeping with recent literature. Mortality rates were also reviewed. METHODS: A retrospective review of patients with ARM between 1993 and 2016 was undertaken. Clinical notes were reviewed and correlated with radiology and cardiac databases...
June 13, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28605140/array-based-molecular-karyotyping-in-115-vater-vacterl-and-vater-vacterl-like-patients-identifies-disease-causing-copy-number-variations
#4
Rong Zhang, Florian Marsch, Franziska Kause, Franziska Degenhardt, Eeberhard Schmiedeke, Stefanie Märzheuser, Bernd Hoppe, Haitham Bachour, Thomas M Boemers, Matthias Schäfer, Nicole Spychalski, Jörg Neser, Johannes Leonhardt, Ferdinand Kosch, Benno Ure, Barbara Gómez, Martin Lacher, Oliver J Deffaa, Markus Palta, Boris Wittekindt, Katharina Kleine, Andrea Schmedding, Sabine Grasshoff-Derr, Amelie van der Ven, Stefanie Heilmann-Heimbach, Nadine Zwink, Ekkehart Jenetzky, Michael Ludwig, Heiko Reutter
BACKGROUND: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes...
June 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28601900/embryological-and-clinical-implications-of-the-association-between-anorectal-malformations-and-spinal-dysraphisms
#5
Giorgia Totonelli, Raffaella Messina, Francesco Morini, Giovanni Mosiello, Paolo Palma, Marianna Scuglia, Barbara D Iacobelli, Pietro Bagolan
PURPOSE: To describe the association of anorectal malformation (ARM) and spinal dysraphism (SD) in terms of impact on the management of SD and embryogenetic implications. METHODS: Patients with SD associated with (A) or without (B) ARM were included. The two groups were further divided into operated on (A1/B1) or not (A2/B2) for SD. Groups A and B were compared for type of SD (embryogenetic classification) and prevalence of neurosurgery; Groups A1 vs. A2 for type of ARM (Wingspread classification); Groups A1 vs...
June 10, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28600851/neonatal-surgery-in-a-developing-country-outcome-of-co-ordinated-interdisciplinary-collaboration
#6
Sebastian O Ekenze, Victor O Modekwe, Obinna V Ajuzieogu, Isaac O Asinobi, Jubril Sanusi
AIM: Neonatal surgery in low-income and middle-income countries has a poorer outcome when compared with high-income countries. This study evaluated the management challenges and outcomes of neonatal surgery before and after the introduction of focused interdisciplinary team management in 2013. METHODS: We retrospectively analysed neonatal surgery undertaken at two referral hospitals in Enugu, south-eastern Nigeria from January 2011 to November 2015. Cases managed prior to July 2013 (group A) were compared with those managed from July 2013 (group B)...
June 10, 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/28600661/controversy-of-single-versus-staged-management-of-anorectal-malformations
#7
Ajay Narayan Gangopadhyay, Vaibhav Pandey
Anorectal malformations' (ARMs) management has taken strides over the past few decades. The advent of Posterior sagittal anorectoplasty (PSARP) and its acceptance by most people across the globe as standard procedure has given way to a debate of single vs. three-staged repair. After initial hesitancy and lot of skepticism, single-staged repair has very well established its role because of its advantages over the staged procedure. There is enough evidence which suggests that single-staged repair has got equally good outcome as that of staged repair (if not better)...
June 10, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28585787/-home-training-as-a-treatment-of-faecal-incontinence-and-sphincter-dyssynergia
#8
G V Vivas Colmenares, M J Moya Jiménez, S Roldán Pérez, R Granero Cendón, J Vinuesa Salgueiro, M López Alonso
OBJECTIVE: The defecation disorders represents the 3% of consultations in pediatrics patients. Our goal was to demonstrate the effectiveness and efficiency of the reeducation of the defecation maneuver through home training in patients with encopresis and sphincter dyssynergia. MATERIAL AND METHODS: Study of patients with fecal incontinence treated with home training at our center between 2014-2015. Anorectal manometry was performed and was valued defecation maneuver by expulsion of rectal probe with or without the ball...
January 25, 2017: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28584680/multidisciplinary-surgical-treatment-of-presacral-meningocele-and-teratoma-in-an-adult-with-currarino-triad
#9
Daniel Chakhalian, Arunprasad Gunasekaran, Gautam Gandhi, Lucas Bradley, Jason Mizell, Noojan Kazemi
BACKGROUND: Currarino syndrome (CS) is a rare genetic condition that presents with the defining triad of anorectal malformations, sacral bone deformations, and presacral masses, which may include teratoma. Neurosurgeons are involved in the surgical treatment of anterior meningoceles, which are often associated with this condition. The accepted surgical treatment is a staged anterior-posterior resection of the presacral mass and obliteration of the anterior meningocele. CASE DESCRIPTION: This case involved a 36-year-old female who presented with late onset of symptoms attributed to CS (e...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28537946/gastrointestinal-manifestations-of-pelvic-floor-disorders-in-adolescents-a-diagnostic-framework-for-the-general-practitioner
#10
Anita Kochikar Pai, Sonia Arora Ballal
PURPOSE OF REVIEW: Pelvic floor disorders (PFDs) can present with gastrointestinal complaints in the adolescent patient, and identification of PFDs is aided by clues in the history and physical examination apparent to the knowledgeable clinician. The aim of this article is to provide a framework for the diagnostic evaluation of the adolescent patient with a PFD and introduce management strategies. RECENT FINDINGS: Patients with PFDs can present with gastrointestinal symptoms, including abdominal pain, constipation, incomplete evacuation, and fecal incontinence or nongastrointestinal complaints around genitourinary symptoms or sexual health...
May 19, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28528713/sociodemographics-and-the-impact-of-a-colostomy-to-indigent-families-and-children-with-colorectal-disorders-in-honduras
#11
W Krois, A J M Dingemans, P X Hernández, M L Metzelder, J Craniotis Rios, C A Reck-Burneo
INTRODUCTION: To describe the social impact of a colostomy on indigent families and affected children with anorectal malformations (ARM) or Hirschsprung's disease (HD) in San Pedro Sula, Honduras, we specifically targeted very low-income households that attended an international medical brigade for ARM and HD in 2016. METHODS: The impact of a colostomy on the families and children's daily life was analyzed by personal interviews with a questionnaire. RESULTS: Twenty families with children were included in the study...
May 12, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28516189/improving-the-rigour-of-vacterl-screening-for-neonates-with-anorectal-malformations
#12
Richard John England, Bala Eradi, Govind V Murthi, Jonathan Sutcliffe
PURPOSE: Screening investigations for the vertebral, anorectal, cardiac, tracheo-oesophageal, renal and limb (VACTERL) association form an important part of the management of neonates with anorectal malformations (ARMs). We developed a proforma to define investigations and indications for referral. The aim of the current study was to determine if the proforma could improve screening rigour. METHODS: Four centres performed a 3-year retrospective audit of neonates with ARM...
May 17, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28501111/laparoscopic-dissection-and-division-of-distal-fistula-in-boys-with-rectourethral-fistula
#13
Chen Wang, Mei Diao, Long Li, Shuli Liu, Zheng Chen, Xu Li, Wei Cheng
BACKGROUND: Congenital rectourethral fistula (RUF) is the most common form of anorectal malformations found in boys. The aim of this study is to review our experience with dissection and division of distal fistula using laparoscopic surgery in the management of RUF, especially rectourethral bulbar fistula. METHODS: One hundred and two consecutive boys with congenital RUF who underwent conventional or single-incision laparoscopic surgery between July 2008 and June 2015 were enrolled in the study...
May 1, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28457523/underdiagnosis-of-mild-congenital-anorectal-malformations
#14
Jara E Jonker, Monika Trzpis, Paul M A Broens
OBJECTIVE: To determine whether the frequency and severity of congenital anorectal malformations (CARMs) differs by sex. STUDY DESIGN: We included 129 patients (0-319 weeks old) diagnosed with CARMs, who had been referred to our Department of Pediatric Surgery between 2004 and 2013. Rectoperineal and rectovestibular fistulas were classified as mild CARMs, all others as severe. If a patient was diagnosed with CARM within 48 hours after birth, this was considered an early diagnosis, all others as late...
April 27, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28456592/whole-exome-sequencing-of-sporadic-patients-with-currarino-syndrome-a-report-of-three-trios
#15
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...
August 15, 2017: Gene
https://www.readbyqxmd.com/read/28446132/pcsk5-is-required-in-the-early-cranio-cardiac-mesoderm-for-heart-development
#16
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/28440360/anorectal-malformation-as-a-cause-of-recurring-perineal-abscesses-value-of-anorectal-endosonography-and-magnetic-resonance-imaging-a-case-report
#17
Małgorzata Kołodziejczak, Giulio A Santoro, Jacek Sobocki, Tomasz Szopiński, Anna Wiączek, Iwona Sudoł-Szopińska
Malformations of the rectum and urinary tract frequently coexist, and the prevalence of urogenital defects in patients with a rectal defect ranges from 20 to 54%. In most patients, anorectal malformations are diagnosed and treated surgically in early childhood. In this report, we present a case of a 52-year-old male with a history of urological operations in infancy due to a congenital urethral malformation and multiple recurrent episodes of perineal abscesses with urinary retention. Anorectal endosonography and magnetic resonance imaging revealed the presence of a large cystic lesion adjacent to the rectal wall which became smaller at the level of the puborectalis...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28413310/females-with-externally-visible-but-stenosed-fecal-orifice-low-or-high-anorectal-malformation
#18
Pavai Arunachalam, Sudipta Sen, Cenita J Sam, B Meenalosani
We report four female children with externally visible but stenosed fecal orifice which proved to be a high anorectal malformation (Type IV pouch colon). They were managed by an abdominoperineal approach with excellent results. We emphasize the correct recognition of this pathology.
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413309/type-v-congenital-pouch-colon-an-extremely-rare-variant-of-anorectal-malformations
#19
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
#20
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
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