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Imperforate anus

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https://www.readbyqxmd.com/read/29725927/how-to-establish-a-successful-bowel-management-programme-in-children-a-tertiary-paediatric-centre-experience
#1
Ann M Costigan, Stephanie Orr, Abdulrahman E Alshafei, Brice A Antao
BACKGROUND: Bowel management is a term used to describe a medical approach to the management of faecal incontinence. AIMS: To present the outcomes of an individualised bowel management programme developed by a tertiary paediatric centre and evaluate contributory factors for successful bowel management in children. METHODS: A retrospective review of children attending a bowel management clinic in a tertiary centre in Dublin, Ireland, over 5 years (2010-2015)...
May 3, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29704304/loss-of-function-ift27-variants-associated-with-an-unclassified-lethal-fetal-ciliopathy-with-renal-agenesis
#2
Chloé Quélin, Philippe Loget, Lucile Boutaud, Nadia Elkhartoufi, Joelle Milon, Sylvie Odent, Mélanie Fradin, Florence Demurger, Laurent Pasquier, Sophie Thomas, Tania Attié-Bitach
Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c...
April 27, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29704291/a-missense-mutation-in-ebf2-was-segregated-with-imperforate-anus-in-a-family-across-three-generations
#3
Shinn Young Kim, Hyun-Sun Ko, Namshin Kim, Seon-Hee Yim, Seung-Hyun Jung, Jiwoong Kim, Myung-Duk Lee, Yeun-Jun Chung
The etiology of imperforate anus, a major phenotype of anorectal malformation (ARM), is still unknown and not a single gene has been reported to be associated with it. We studied a Korean family with six affected members with imperforate anus across three generations by whole exome sequencing and identified a missense mutation in the EBF2 gene (c.215C > T; p.Ala72Val). This mutation is completely segregated with the disease phenotype in the family and is evolutionarily highly conserved among diverse vertebrates...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29686952/mermaid-syndrome-a-case-report-in-mauritius
#4
Kamleshun Ramphul, Stephanie G Mejias, Yogeshwaree Ramphul-Sicharam
Sirenomelia is a rare congenital malformation that results in the fusion of the lower limbs together with multiple visceral anomalies. We report a case of sirenomelia observed in Mauritius and the different findings seen in the baby. The baby had fused lower extremities and bony structures for each leg were present. The umbilical cord consisted of a single artery and one vein. The external genitalia was absent and an imperforate anus was also seen. An x-ray revealed poorly expanded lungs and two distinct sets of femur and tibia were seen on imaging...
February 20, 2018: Curēus
https://www.readbyqxmd.com/read/29673064/successful-pregnancy-and-delivery-after-simultaneous-islet-kidney-transplantation
#5
Michela Assalino, Michele Podetta, Sandrine Demuylder-Mischler, Katyuska Francini, Nadine Pernin, Jean-Pierre Randin, Domenico Bosco, Axel Andres, Thierry Berney
Allogeneic islet of Langerhans transplantation is a recognized beta-cell replacement therapy for patients affected by type 1 diabetes mellitus. Type 1 diabetes mellitus is a condition associated with an increased risk of adverse outcomes for pregnant women and fetuses. We report the case of a 29-year-old woman with type 1 diabetes mellitus, who underwent successful allogeneic islet transplantation with simultaneous kidney transplantation. She achieved durable insulin independence after 2 islet infusions. Pregnancy was desired and planned 2 years after the last islet infusion...
April 19, 2018: American Journal of Transplantation
https://www.readbyqxmd.com/read/29575628/congenital-sodium-diarrhea-and-chorioretinal-coloboma-with-optic-disc-coloboma-in-a-patient-with-biallelic-spint2-mutations-including-p-tyr163cys
#6
Kristin E Hirabayashi, Anthony T Moore, Bryce A Mendelsohn, Ryan J Taft, Aditi Chawla, Denise Perry, Duncan Henry, Anne Slavotinek
Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29446703/use-of-the-5-mm-endoscopic-stapler-for-ligation-of-fistula-in-laparoscopic-assisted-repair-of-anorectal-malformation
#7
Bethany J Slater, Saundra Kay, Steven S Rothenberg
OBJECTIVE: Laparoscopic anorectoplasty (LARRP) for the treatment of select anorectal malformations has gained popularity due to enhanced visualization of the fistula and the ability to place the rectum within the sphincter complex while minimizing division of muscles and the perineal incision. However, given the technical challenges and reported complications of ligation, a number of techniques have been described, including using clips, suture ligation, endoloops, or division without closure...
February 15, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29416290/omphalocele-exstrophy-of-cloaca-imperforate-anus-and-spinal-defect-complex-multiple-major-reconstructive-surgeries-needed
#8
Nada Neel, Mohmoud Salem Tarabay
OEIS complex is a rare combination of serious birth defects including omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects. The aim of managements has shifted from merely providing survival to improve patient outcomes and quality of life with higher level of physical and social independence. Multiple complicated reconstructive surgeries always needed for achieving the goals of treatment. In this case report, we aimed to present our surgical approach for this rare abnormality to achieve functionally and socially acceptable outcome...
January 2018: Urology Annals
https://www.readbyqxmd.com/read/29379239/a-rare-case-of-oeis-complex-newer-approach-to-diagnosis-of-exstrophy-bladder-by-color-doppler-and-its-differentiation-from-simple-omphalocele
#9
Kavita Aneja
The objective of this article is to present a new approach to diagnose and differentiate similar ventral masses by color Doppler. Two cases of ventral masses, a rare case of OEIS complex (Omphalocele-exstrophy-imperforate anus-spinal defects) with unusual presentation of exstrophy bladder and another of simple omphalocele, were studied by color Doppler for diagnosis and differentiation between the nature of similar masses. Ventral mass with absent bladder, normal kidneys, and normal amniotic fluid index raised the suspicion of exstrophy bladder...
October 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29370894/continence-after-posterior-sagittal-anorectoplasty-for-anorectal-malformations-comparison-of-different-scores
#10
Giulia Brisighelli, Francesco Macchini, Dario Consonni, Antonio Di Cesare, Anna Morandi, Ernesto Leva
PURPOSE: To evaluate bowel function in patients with anorectal malformations (ARM) comparing existing scoring systems. METHODS: Parents of ARM patients treated at our institution were asked to fill in Holschneider, Kricknebeck, and Rintala questionnaires. Scores obtained from the questionnaires were expressed per cent and analyzed depending on the age and type of ARM according to Krickenbeck classification. Patients younger than 3 years of age or with developmental delay were excluded...
December 27, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29336759/robotic-rectopexy-for-rectal-prolapse-in-pediatric-patients
#11
David J Hiller, Jaime L Bohl, Kristen A Zeller
Rectal prolapse is the protrusion of the rectum out of the anus. Surgical correction can be accomplished via open and minimally invasive abdominal approaches, as well as from the perineum. Robotic rectopexy is an option for minimally invasive treatment of rectal prolapse. There are no studies that have established the efficacy of robotic rectopexy for rectal prolapse in the pediatric population. The aim of this study was to review the experience of robotic rectopexy at a single institution. This is a retrospective review of our pediatric robotic rectopexy experience from 2012 to 2015...
December 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#12
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29216522/case-of-urethral-duplication-seen-by-voiding-urosonography
#13
Hanisha Patel, Christopher Watterson, Jeanne S Chow
A 3-month-old premature male infant with imperforate anus and hypospadias underwent contrast-enhanced voiding urosonography (ceVUS) followed by voiding cystourethrography (VCUG). Images from the ceVUS demonstrated a distinct linearity arising dorsally from the posterior urethra that partially opacified with contrast. VCUG confirmed a urethral duplication. To our knowledge, this exceedingly rare anomaly has yet to be reported by ceVUS.
December 1, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/29127963/minimally-invasive-surgery-in-the-management-of-anorectal-malformations
#14
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/29125001/hypoxia-due-to-positive-pressure-ventilation-in-edwards-syndrome-a-case-report
#15
Sun Kyung Hoon, Seung-Woo Kang, Sang-Hyun Kwak, Joungmin Kim
Edwards' syndrome also known as trisomy 18 is a congenital disorder associated with cardiovascular issues including ventricular septal defect (VSD), atrial septal defect (ASD) and patent duct arteriosus (PDA). An emergency colostomy was performed on a neonate born with an imperforate anus. Pre-operative transthoracic echocardiography showed presence of VSD, a patent foramen ovale (PFO) or ASD. Even though the baby had a good general condition and optimal peripheral oxygen saturation (SpO2 ), during positive pressure ventilation, she suffered severe hypoxia (50% SpO2 )...
February 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29112640/distance-between-the-distal-rectal-pouch-and-perineum-in-neonates-of-low-birth-weight-with-imperforate-anus
#16
Takahiro Hosokawa, Mayumi Hosokawa, Yutaka Tanami, Hiroaki Takahashi, Shinya Hattori, Yumiko Sato, Yujiro Tanaka, Hiroshi Kawashima, Eiji Oguma, Yoshitake Yamada
This study was to evaluate the correlation between birth weight and the distance between distal rectal pouch and perineum (P-P distance) and to determine a cutoff value for P-P distance to diagnose low-type imperforate anus in neonates with low-birth weight (LBW).We included 15 neonates with LBW (mean weight, 2012 ± 470 g; range, 906-2452 g) and imperforate anus (surgically confirmed: 11 low type and 3/1 intermediate/high type), who underwent ultrasonography on the day after birth. Type of imperforate anus was defined based on the International Classification of Anorectal Anomalies...
March 2018: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29103788/sclerotherapy-for-the-management-of-rectal-prolapse-in-children
#17
Scott C Dolejs, Justin Sheplock, Robert J Vandewalle, Mathew P Landman, Frederick J Rescorla
PURPOSE: Rectal prolapse is a commonly occurring and usually self-limited process in children. Surgical management is indicated for failures of conservative management. However, the optimal approach is unknown. The purpose of this study is to determine the efficacy of sclerotherapy for the management of rectal prolapse. METHODS: This was a retrospective review of children <18years with rectal prolapse who underwent sclerotherapy, predominantly with peanut oil (91%), between 1998 and 2015...
October 10, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29037560/application-of-non-invasive-prenatal-testing-in-late-gestation-in-a-pregnancy-associated-with-intrauterine-growth-restriction-and-trisomy-22-confined-placental-mosaicism
#18
Chih-Ping Chen, Chris Tsai, Ming-Huei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Wen-Lin Chen, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present the application of non-invasive prenatal testing (NIPT) in late gestation in a pregnancy associated with intrauterine growth restriction (IUGR) and trisomy 22 confined placental mosaicism (CPM). CASE REPORT: A 35-year-old pregnant woman underwent chorionic villus sampling (CVS) at 12 weeks of gestation. The pregnancy was conceived by in vitro fertilization and intracytoplasmic sperm injection. CVS revealed a karyotype of 47,XY,+22 in all of 15 cultured chorionic villi cells...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28977304/children-with-multiple-congenital-defects-what-are-the-limits-between-therapeutic-obstinacy-and-the-treatment-of-uncertain-benefit
#19
Patricia Souza Valle Cardoso Pastura, Marcelo Gerardin Poirot Land
OBJECTIVE: Therapeutic approach of children with multiple malformations poses many dilemmas, making it difficult to build a line between the treatment of uncertain benefit and therapeutic obstinacy. The aim of this paper was to highlight possible sources of uncertainty in the decision-making process, for this group of children. CASE DESCRIPTION: An 11-month-old boy, born with multiple birth defects and abandoned by his parents, has never been discharged home. He has complex congenital heart disease, main left bronchus stenosis and imperforate anus...
January 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28951012/is-measuring-the-residual-rectourethral-fistula-during-laparoscopically-assisted-anorectal-pull-through-for-male-high-intermediate-type-imperforate-anus-beneficial-mid-term-follow-up
#20
Hiroyuki Koga, Manabu Okawada, Go Miyano, Takashi Doi, Geoffrey J Lane, Atsuyuki Yamataka
BACKGROUND/PURPOSE: We evaluated routine intraoperative residual rectourethral fistula measurement (IRRFM) in 20 consecutive male imperforate anus with recto-bulbar (RB; n=12) or recto-prostatic (RP; n=8) fistula during laparoscopically assisted anorectal pull-through (LAARP) for preventing incomplete fistula excision (IFE) on mid-term follow-up. METHODS: Twenty consecutive LAARP performed at a mean age of 10months (range: 3-30) followed-up for a mean of 4.8years (range: 1...
December 2017: Journal of Pediatric Surgery
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