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Anorectal malformations

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https://www.readbyqxmd.com/read/28537946/gastrointestinal-manifestations-of-pelvic-floor-disorders-in-adolescents-a-diagnostic-framework-for-the-general-practitioner
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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...
April 26, 2017: Gene
https://www.readbyqxmd.com/read/28446132/pcsk5-is-required-in-the-early-cranio-cardiac-mesoderm-for-heart-development
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28413305/solitary-functioning-kidney-in-high-anorectal-malformation
#12
Kanishka Das, Srinivas Raju Rajkiran
AIM: A solitary functioning renal unit in high anorectal malformation may harbor anomalies in the upper/lower urinary tract that further compromise renal function and accelerate hyperfiltration injury. We aimed to analyze the clinical course, management, and outcome of children with a solitary renal unit and high anorectal malformation. MATERIALS AND METHODS: A cohort of solitary renal units in anorectal malformation managed between 2000 and 2015 with a defined protocol at a pediatric nephro-urology clinic are included in the study...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413304/simultaneous-single-staged-repair-of-anorectal-malformation-with-tracheoesophageal-fistula-lessons-learned
#13
Ajay Narayan Gangopadhyay, Vaibhav Pandey
INTRODUCTION: Anorectal malformation (ARM) associated esophageal atresia (EA) with tracheoesophageal fistula (TEF) spawns special therapeutic propositions. The outcome of these patients banks on numerous factors. We performed this study with an aim to compare the outcome of single-staged simultaneous primary repair of both anomalies versus staged repair of these disorders. MATERIALS AND METHODS: Retrospective review of cases with ARM and associated EA with TEF managed over a period of 5 years from July 2010 to June 2015 after ethical approval was undertaken...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413303/role-of-interferential-therapy-in-children-with-fecal-incontinence-postanorectal-malformation-surgeries
#14
Prince Raj, Yogesh Kumar Sarin, Prachi Raj
BACKGROUND: Anorectal malformation (ARM) is one of the most common pediatric surgical problems dealt in day-to-day practice. Although the outcome of surgery has improved a great deal over the last three decades fecal incontinence (FI) is still a common long-term morbidity that affects the quality of life of these patients. Bowel wash (BW) program with pelvic floor exercise are standard care of management for these patients. This study was undertaken to assess the role of interferential therapy (IFT) along with BW compared to BW alone in the management of FI...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413302/primary-definitive-procedure-versus-conventional-three-staged-procedure-for-the-management-of-low-type-anorectal-malformation-in-females-a-randomized-controlled-trial
#15
Alisha Gupta, Sandeep Agarwala, Vishnubhatla Sreenivas, Madhur Srinivas, Veereshwar Bhatnagar
INTRODUCTION: Females with Krickenbeck low-type anorectal malformations - vestibular fistula (VF) and perineal fistula (PF) - are managed either by a primary definitive or conventional three-staged approach. Ultimate outcome in these children may be affected by wound dehiscence leading to healing by fibrosis. Most of the literature favors one approach over other based on retrospective analysis of their outcomes. Whether a statistically significant difference in wound dehiscence rates between these approaches exists needed to be seen...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413301/anorectal-malformations-in-males-pros-and-cons-of-neonatal-versus-staged-reconstruction-for-high-and-intermediate-varieties
#16
Prema Menon, Katragadda Lakshmi Narasimha Rao, Amit Kumar Sinha, K Lokesha, Ram Samujh, Jai Kumar Mahajan, Ravi Prakash Kanojia, Monika Bawa
BACKGROUND: High and intermediate types of anorectal malformations (ARMs) in male neonates may be managed either by primary neonatal reconstruction without colostomy cover or by traditional policy of staged reconstruction after neonatal colostomy. Posterior sagittal anorectoplasty (PSARP) is the current widely practiced reconstructive technique with varied results. AIM: To assess our functional results of PSARP without colostomy in male neonates with high and intermediate ARMs compared to 3-stage (neonatal colostomy - PSARP - colostomy closure) methodology in a high volume tertiary care institution of a developing country...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413300/anorectal-agenesis-with-rectovaginal-fistula-a-rare-regional-variant
#17
Subhasis Roy Choudhury, Niyaz Ahmed Khan, Pinaki Ranjan Debnath, Partap Singh Yadav, Shalu Shah, Rajiv Chadha
AIMS AND OBJECTIVES: The anatomical types of female anorectal malformation (ARM) are complex and include several rare and regional variants. The aim of this report is to highlight the diagnosis and management of cases of anorectal agenesis with rectovaginal fistula (RVF). MATERIALS AND METHODS: This is a retrospective chart review of cases of RVF who underwent definitive surgery between November 2000 and September 2016 in a single institution. RESULTS: Of the 244 female patients with anorectal anomalies treated in our institution over a 16-year period, there were 15 cases of RVF with anorectal agenesis giving it an incidence of 6%...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413299/congenital-pouch-colon
#18
REVIEW
Rajiv Chadha, Niyaz Ahmed Khan
Congenital pouch colon (CPC) is an unusual abnormality in which a pouch-like dilatation of a shortened colon is associated with an anorectal malformation. It is categorized into four subtypes (Types I-IV) based on the length of normal colon proximal to the colonic pouch. In males, the pouch usually terminates in a colovesical fistula just proximal to the bladder neck. In girls, the terminal fistula opens either into the urethra or in the vestibule, close to the urethral opening. Girls usually have a double vagina with a wide inter-vaginal bridge, a monocornuate uterus on each side, and urinary incontinence due to a widely open bladder neck...
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28413298/anorectal-malformation-issues-beyond-definitive-surgery
#19
EDITORIAL
Prema Menon
No abstract text is available yet for this article.
April 2017: Journal of Indian Association of Pediatric Surgeons
https://www.readbyqxmd.com/read/28399120/sotos-syndrome-associated-with-hirschsprung-s-disease-a-new-case-and-exome-sequencing-analysis
#20
Cherry Ann Sio, Kyuwhan Jung, Jeong-Hyun Kim, Hyun Sub Cheong, Eun Shin, Hyejin Jang, Miok Yoon, Huijeong Jang, Hyoung Doo Shin
BackgroundSotos syndrome (SoS) is an overgrowth disorder with various congenital anomalies and is usually accompanied by other clinical problems. However, anorectal malformations have not been documented as part of the SoS entity. Our objective is to report on a case of SoS associated with Hirschsprung's disease (HSCR) and subsequent genetic analysis.MethodsA 2-year-old boy with SoS experienced constipation since infancy and ultimately showed an aganglionic segment in the histopathologic examination, which was followed by exome-sequencing analysis...
May 3, 2017: Pediatric Research
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