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Anorectal malformation

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https://www.readbyqxmd.com/read/28733158/clinical-and-urodynamic-outcomes-in-children-with-anorectal-malformation-subtype-of-recto-bladder-neck-fistula
#1
A C Strine, B A VanderBrink, Z Alam, M Schulte, P H Noh, W R DeFoor, E Minevich, C A Sheldon, J S Frischer, P P Reddy
INTRODUCTION: Patients with anorectal malformations (ARMs) have a high incidence of genitourinary anomalies. Those with a recto-bladder neck fistula may represent a high-risk group, but their long-term urologic outcomes are poorly described. OBJECTIVE: To evaluate the clinical and urodynamic outcomes in a large cohort of patients with an ARM subtype of recto-bladder neck fistula. MATERIALS AND METHODS: A retrospective cohort study was performed of patients who had been treated for a recto-bladder neck fistula at the present institution since 2007...
July 10, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28712050/spatiotemporal-expression-of-bcl-2-bax-and-neural-cell-apoptosis-in-the-developing-lumbosacral-spinal-cord-of-rat-fetuses-with-anorectal-malformations
#2
Zhonghua Yang, Yuanyuan Geng, Zhiya Yao, Huimin Jia, Yuzuo Bai, Weilin Wang
Fecal incontinence and constipation still remain the major complications after procedures for anorectal malformations (ARMs). Previous studies have demonstrated a decrease of neural cell in lumbosacral spinal cord of ARMs patients and rat models. However, the underlying mechanism remains elusive. In this study, the neural cell apoptosis and Bcl-2/Bax expression were explored during lumbosacral spinal cord development in normal and ARMs fetuses. ARMs rat fetuses were induced by treating pregnant rats with ethylenethiourea on embryonic day 10...
July 15, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28696502/linking-brain-arteriovenous-malformations-with-anorectal-hemorrhoids-a-clinical-and-anatomical-review
#3
REVIEW
Joshua A Cuoco, Christopher L Hoehmann, Kyle Hitscherich, Sherry M Zakhary, Joerg R Leheste, German Torres
Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease...
July 11, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28695882/institutional-experience-with-laparoscopic-assisted-anorectal-pull-through-in-a-series-of-17-cases-a-retrospective-analysis
#4
Madhu Ramasundaram, Jegadeesh Sundaram, Prakash Agarwal, Raj Kishore Bagdi, Selvapriya Bharathi, Apurva Arora
AIMS: To retrospectively analyse the results of laparoscopically-assisted anorectal pull-through (LAARP) for high anorectal malformation (ARM) in male children in our institution. MATERIALS AND METHODS: We analysed the hospital records of patients who had undergone LAARP from October 2010 to December 2015 in terms of age, operative time, length of hospital stay and post-operative complications. RESULTS: Of 17 cases, 13 (76%) were in 6‒12 months age group, whereas rest of them were in 12‒18 months age group...
July 7, 2017: Journal of Minimal Access Surgery
https://www.readbyqxmd.com/read/28689883/currarino-syndrome-does-the-presence-of-a-genetic-anomaly-correlate-with-a-more-severe-phenotype-a-multicentre-study
#5
Sara Costanzo, Luigina Spaccini, Luca Pio, Girolamo Mattioli, Calogero Virgone, Patrizia Dall'Igna, Barbara Iacobelli, Alessandro Inserra, Giulia Brisighelli, Anna Maria Fagnani, Ernesto Leva, Giulia Giannotti, Maurizio Cheli, Paolo Frumento, Giovanna Riccipetitoni
BACKGROUND/PURPOSE: Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients...
June 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28688794/transition-of-care-in-patients-with-anorectal-malformations-consensus-by-the-arm-net-consortium
#6
REVIEW
Stefano Giuliani, Caterina Grano, Dalia Aminoff, Nicole Schwarzer, Mariette Van De Vorle, Celia Cretolle, Michel Haanen, Giulia Brisighelli, Stefanie Marzheuser, Martin Connor
OBJECTIVES: To develop the first consensus to standardize the management of patients with Anorectal Malformations (ARMs) transitioning from childhood to adulthood. METHODS: A dedicated task force of experts performed an extensive literature review and multiple meetings to define the most important aspects of transition of care. The findings were discussed with all ARM-net consortium members and a set of practical recommendations agreed upon at the annual meeting in 2016...
June 23, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28674948/transitional-health-care-for-patients-with-hirschsprung-disease-and-anorectal-malformations
#7
M J Witvliet, N Petersen, E Ekkerman, C Sleeboom, E van Heurn, A F W van der Steeg
BACKGROUND: Hirschsprung disease (HD) and anorectal malformations (ARM) are congenital disorders with potentially lifelong consequences. Although follow-up is performed in most pediatric patients, transfer to adult health care is often problematic. This study assesses transitional care with the help of questionnaires in consultation with adult patients. METHODS: This study was conducted in an outpatient clinic of a pediatric surgical center in the Netherlands. All patients born and treated for ARM or HD before 1992 were invited to visit our clinic...
July 3, 2017: Techniques in Coloproctology
https://www.readbyqxmd.com/read/28674920/tethered-cord-in-patients-affected-by-anorectal-malformations-a-survey-from-the-arm-net-consortium
#8
María Fanjul, I Samuk, P Bagolan, E Leva, C Sloots, C Giné, D Aminoff, P Midrio
PURPOSE: The goal of this study was to determine the degree of consensus in the management of spinal cord tethering (TC) in patients with anorectal malformation (ARM) in a large cohort of European pediatric centers. METHODS: A survey was sent to pediatric surgeons (one per center) members of the ARM-Net Consortium. RESULTS: Twenty-four (86%) from ten different countries completed the survey. Overall prevalence of TC was: 21% unknown, 46% below 15, and 29% between 15 and 30%...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28616723/post-operative-strictures-in-anorectal-malformation-trends-over-15%C3%A2-years
#9
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...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28612626/carcinoid-transformation-of-presacral-dermoid-cyst-in-patient-with-currarino-syndrome-a-case-report
#10
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
#11
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...
August 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
#12
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
#13
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...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28600851/neonatal-surgery-in-a-developing-country-outcome-of-co-ordinated-interdisciplinary-collaboration
#14
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
#15
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)...
August 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28585787/-home-training-as-a-treatment-of-faecal-incontinence-and-sphincter-dyssynergia
#16
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
#17
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
#18
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...
August 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
#19
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
#20
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...
July 2017: Pediatric Surgery International
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