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Anorectal malformation

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https://www.readbyqxmd.com/read/29127963/minimally-invasive-surgery-in-the-management-of-anorectal-malformations
#1
REVIEW
Sarah B Cairo, David H Rothstein, Carroll M Harmon
Imperforate anus, a variant of anorectal malformation (ARM), is a common congenital anomaly requiring surgical attention in the newborn period. It may present with a variety of anatomic configurations, largely dependent on the presence and location of a fistula. The location (or characteristics) of a fistula, which usually lies between the gastrointestinal tract and the genitourinary tract or perineum, is often used in determining the type and timing of operative management. This article discusses the work-up and management, modes of treatment and their postoperative outcomes, and continued controversy regarding the use of minimally invasive surgical approaches to ARM...
December 2017: Clinics in Perinatology
https://www.readbyqxmd.com/read/29110831/long-term-bowel-function-quality-of-life-and-sexual-function-in-patients-with-anorectal-malformations-treated-during-the-psarp-era
#2
Kristiina Kyrklund, Mikko P Pakarinen, Risto J Rintala
Anorectal malformations are an important group of congenital anomalies that vary widely in their anatomical characteristics and complexity. Understanding the long-term functional outcomes after modern treatments, and how these compare to the general population, are essential for ensuring that patients receive optimal, evidence-based care. With increasing appreciation of the wider impact of the illness on patients and their families, minimizing social disability from fecal incontinence and enabling normal social integration from the outset are key management concerns...
October 2017: Seminars in Pediatric Surgery
https://www.readbyqxmd.com/read/29110636/phenotypic-and-genotypic-aspects-of-townes-brock-syndrome-case-report-of-patient-in-southern-brazil-with-a-new-sall1-hotspot-region-nonsense-mutation
#3
Paulo Breno Noronha Liberalesso, Mara L Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect...
November 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29094201/a-review-of-genetic-factors-contributing-to-the-etiopathogenesis-of-anorectal-malformations
#4
REVIEW
Kashish Khanna, Shilpa Sharma, Noel Pabalan, Neetu Singh, D K Gupta
BACKGROUND: Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. MATERIALS AND METHODS: Literature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included...
November 1, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29079318/transitions-in-care-from-pediatric-to-adult-general-surgery-evaluating-an-unmet-need-for-patients-with-anorectal-malformation-and-hirschsprung-disease
#5
Sarah B Cairo, Priscilla P L Chiu, Roshni Dasgupta, Karen A Diefenbach, Allan M Goldstein, Nicholas A Hamilton, Andrea Lo, Michael D Rollins, David H Rothstein
BACKGROUND: The provision of timely and comprehensive transition of care from pediatric to adult surgical providers for patients who have undergone childhood operations remains a challenge. Understanding the barriers to transition from a patient and family perspective may improve this process. METHODS: A cross-sectional survey was conducted of patients with a history of anorectal malformation (ARM) or Hirschsprung Disease (HD) and their families. The web-based survey was administered through two support groups dedicated to the needs of individuals born with these congenital abnormalities...
October 7, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29062381/a-rare-case-of-pulmonary-artery-sling-with-the-vacterl-association-in-a-20-month-old-infant
#6
Yazdan Ghandi, Akbar Shafiee, Mehrazad Sharifi, Najmeh Sadat Bolandnazar
The VACTERL association, co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, genitourinary, and limb malformations, is a rare congenital anomaly. Several cardiac anomalies have been reported as a part of the VACTERL association, particularly ventricular and atrial septal defects. Pulmonary artery sling is a rare congenital abnormality in which the left pulmonary artery arises from the right pulmonary artery. This anomaly is not frequently observed in the VACTERL association and has been rarely reported...
July 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/29059696/social-morbidity-in-relation-to-bowel-functional-outcomes-and-quality-of-life-in-anorectal-malformations-and-hirschsprung-s-disease
#7
Kristiina Kyrklund, Malla I Neuvonen, Mikko P Pakarinen, Risto J Rintala
No abstract text is available yet for this article.
October 23, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29027581/unusual-case-of-coronal-complete-bladder-duplication-associated-with-rectoprostatic-fistula-to-duplicated-prostatic-urethra
#8
Jennifer Y Lam, Steven R Lopushinsky, Kyle C Kurek, Paul Beaudry
Anorectal malformations are a common congenital anomaly, while bladder duplication is rare. Bladder duplications are classified as complete or incomplete and sagittal or coronal. We present a rare case of coronal complete bladder duplication with rectoprostatic fistula to the blind ending prostatic urethra of the duplicated bladder.
October 13, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29021649/follow-up-urodynamics-in-patients-with-neurogenic-bladder
#9
REVIEW
Sanjay Sinha
INTRODUCTION: Neurogenic bladder patients are at long-term risk of secondary upper urinary tract damage. Symptoms are unreliable and follow-up urodynamics is the only method of ascertaining safety of bladder pressures. This review examines the recommendations, shortcomings and utilization of existing guidelines. The evidence with regard to follow-up urodynamics in different settings relevant to neurogenic bladder is evaluated and an algorithm is proposed. METHODS: A pubmed search was conducted for studies on follow-up urodynamics in patients with neurogenic bladder...
October 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28994873/anal-imperforation-in-adults-diagnostic-difficulties-and-therapeutic-options
#10
Houcine Maghrebi, Rachid Ksantini, Amin Makni, Helmi Slama, Meriem Jrad, Amine Daghfous, Wael Rebai, Fadhel Fteriche, Faouzi Chebbi, Mohamed Jouini, Kacem Montassar, Zoubeir Ben Safta
Anorectal malformations are congenital anomalies ranging from simple perineal fistulas to complex malformations. They are usually treated inchildhood, and exceptionally in adult. We herein report the case of a 22 years aged patient and relate the diagnosis difficulties and therapeuticoptions. She consulted for anal imperforation discovered since birth. Initially, His parents refused the surgical management. It was an analimperforation with a vestibular fistula. The patient was operated by a low approach. She had a disconnection of the recto-vestibular fistula,dissection of the anal canal and a perineal posterior transposition...
November 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28983458/a-rare-association-of-anorectal-malformation-with-bladder-agenesis-bilateral-ectopic-ureter-and-left-pelviureteric-junction-obstruction
#11
Müslim Yurtçu, Alaeddin Dilsiz
No abstract text is available yet for this article.
November 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28975535/spatiotemporal-expression-of-proprotein-convertase-subtilisin-kexin-type-5-in-the-development-of-anorectal-malformations-in-fetal-rats
#12
Xiao Bing Tang, Li Chen, Wei Lin Wang, Zheng Wei Yuan, Yu Zuo Bai
This study examined the expression patterns of proprotein convertase subtilisin/kexin type 5 (Pcsk5) during anorectal development in normal and anorectal malformations (ARM) rat embryos, determine the possible role of Pcsk5 in the pathogenesis of ARM. An ARM rat model was developed by the administration of ethylenethiourea gestational day 10 (GD10). Embryos were harvested by surgical excision from GD13 to GD16, and the spatiotemporal expression of Pcsk5 was evaluated, using immunohistochemistry staining, Western blotting and real time RT-PCR...
December 2017: Journal of Molecular Histology
https://www.readbyqxmd.com/read/28946162/tethered-cord-and-anorectal-malformations-a-case-series
#13
Francesca Destro, Lorena Canazza, Milena Meroni, Giorgio Selvaggio, Cecilia Parazzini, Laura Valentini, Giovanna Riccipetitoni
No abstract text is available yet for this article.
September 25, 2017: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28944335/successful-management-without-protective-colostomy-in-an-adult-patient-with-anorectal-mal-formation
#14
Cengiz Tavusbay, Hüdai Genç, İrfan Karaca, Kemal Atahan, Mehmet Hacıyanlı, Erdal Türk
Anorectal malformations are rare occurrences characterized by the absence or abnormal localization of the anus. Clinical manifestations can vary from mild forms that require only minor surgery to more complicated cases that must be managed with multi-staged surgery. In this report, our aim is to present the clinical characteristics, management, and treatment outcome of an adult patient with an anorectal malformation with a vestibular fistula that was successfully repaired by posterior sagittal anorectoplasty (PSARP) and to discuss the case in the light of the relevant literature...
2017: Turk J Surg
https://www.readbyqxmd.com/read/28924534/image-of-the-month-clinical-features-in-a-newborn-with-covered-cloacal-exstrophy
#15
Alejandra Vilanova-Sánchez, Christina B Ching, Alessandra C Gasior, Karen Diefenbach, Richard J Wood, Marc Levitt
Cloacal exstrophy is the most severe type of anorectal malformations that belongs to the bladder-exstrophy-epispadias complex of genitourinary malformations. Interestingly, its variant, the covered cloacal exstrophy, is often missed. The clinical findings of this variant may include an imperforate anus, low lying umbilicus, thick pubic bone, and pubic diastasis but with an intact abdominal wall. We present an interesting case of covered cloacal exstrophy with a side-by-side duplicated bladder and discuss important considerations for the time of colostomy creation in the newborn period...
January 2017: European Journal of Pediatric Surgery Reports
https://www.readbyqxmd.com/read/28920029/exstrophy-bladder-with-low-anorectal-malformation-a-rare-association
#16
Aditya Pratap Singh, Vinay Mathur, Ramesh Tanger, Arun Kumar Gupta
No abstract text is available yet for this article.
July 2017: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/28916047/anorectal-malformation-hirschsprung-s-disease-a-cross-sectional-comparison-of-quality-of-life-and-bowel-function-to-healthy-controls
#17
Shireen Anne Nah, Caroline C P Ong, Seyed Ehsan Saffari, Lin Yin Ong, Te-Lu Yap, Yee Low, Anette S Jacobsen
BACKGROUND: Patients with anorectal malformation (ARM) and Hirschsprung's disease (HD) face long-term disturbance in bowel function even after definitive surgery. This study evaluates the quality of life (QOL) of patients with ARM and HD, and compares them to healthy controls using self-report questionnaires. METHODOLOGY: A prospective study was performed recruiting patients with ARM or HD from September 2013 to December 2014 who had primary surgery done in our institution at least 2 years prior to participation...
August 25, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28876575/neonatal-surgery-a-study-of-two-years-at-nelson-mandela-academic-hospital-mthatha-eastern-cape
#18
A Delgado, A Cejas, D Bangasa
BACKGROUND: Advances in diagnostic techniques and perioperative care have greatly improved the outcome of neonatal surgery. Despite this, disparity still exists in the outcome of neonatal surgery between developed and developing countries. METHOD: We performed a prospective study of neonates admitted and treated due to surgical congenital diseases and other conditions in our hospital from April 2015 to April 2017. RESULTS: There were 19 (28,7%) females and 47 (70,3%) males in this group...
September 2017: South African Journal of Surgery. Suid-Afrikaanse Tydskrif Vir Chirurgie
https://www.readbyqxmd.com/read/28871380/mri-of-anal-canal-common-anal-and-perianal-disorders-beyond-fistulas-part-2
#19
REVIEW
Ayşe Erden
A broad spectrum of disease, from benign processes to life-threatening pathologies, can cause anal pain. MR imaging (MRI) has become increasingly widely used method over the past two decades for the evaluation of individuals with anorectal symptoms. Although imaging is rarely necessary to determine the etiology of the majority of cases, MRI is particularly useful as a noninvasive method of excluding severe neoplastic conditions. In this article, MRI findings of a number of pathologies such as anal and perianal neoplasms, hemorrhoidal disease, arteriovenous malformation of the perianal region, and anal sphincter lesions (defects, scarring, atrophy) which may lead to fecal incontinence are presented...
September 4, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28857374/histology-with-immunohistochemistry-of-the-fistula-region-in-female-anorectal-malformation-can-it-be-used-for-neo-anus-reconstruction
#20
Anand Pandey, Pinky Pandey, Shailendra P Singh, Savita Agarwal, Vipin Gupta, Rajesh Verma
AIM: Female anorectal malformation is characterised by communication to the exterior by a fistula. There are conflicting reports of the presence of normal anus in the fistula region. This study was undertaken to assess the histopathology and immunohistochemical correlation of the terminal portion of the fistula in female patients and suitability of fistula incorporation in the reconstruction of the neo-anus. METHODS: This prospective study included 13 patients of female anorectal malformation...
August 30, 2017: Journal of Paediatrics and Child Health
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