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Imperforate anus

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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/29125001/hypoxia-due-to-positive-pressure-ventilation-in-edwards-syndrome-a-case-report
#2
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)...
January 1, 2017: 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
#3
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...
November 6, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29103788/sclerotherapy-for-the-management-of-rectal-prolapse-in-children
#4
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
#5
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
#6
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
#7
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...
September 4, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28944335/successful-management-without-protective-colostomy-in-an-adult-patient-with-anorectal-mal-formation
#8
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
#9
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/28904925/a-rare-case-of-transvesical-cesarean-section
#10
Sunil Kumar Juneja, Pooja Tandon, Bakul Kochhar, Harman Deep Singh, Bhanupriya Sharma
Cesarean section, also commonly known as C-section, is a surgical procedure in which incision is made through a mother's abdomen and uterus to deliver one or more babies. According to urgency, they are classified either as elective or emergency. According to technique, they have been classified as classical, lower uterine segment and cesarean hysterectomy. Intentional transvesical cesarean though not a routinely practiced technique is used for delivery in women born with imperforate anus, ectopic intravaginal urethra, vaginal and urethral strictures, and bladder adherent completely over the uterus...
July 2017: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/28892921/a-rare-case-of-genital-malformation-with-omphalocele-exstrophy-of-bladder-imperforate-anus-and-spinal-defect-complex-autopsy-findings
#11
K Mamatha, B R Yelikar, Varsha R Deshpande, B S Disha
Omphalocele, Exstrophy of cloaca, Imperforate anus and Spinal defects (OEIS) is a severe manifestation of exstrophy-epispadias sequence with a combination of defects including OEIS. It results from improper closure of anterior abdominal wall and defective development of cloaca and urogenital septum due to defect in blastogenesis during the 4(th) week of gestation. Identification of this complex is important through foetal autopsy as this condition can recur in siblings. Prenatal diagnosis also helps to prevent foetal death with appropriate management in the less severe cases...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28840291/augmented-pressure-distal-colostogram-the-most-important-diagnostic-tool-for-planning-definitive-surgical-repair-of-anorectal-malformations-in-boys
#12
Steven J Kraus, Marc A Levitt, Alberto Peña
There is little current literature on the augmented-pressure distal colostogram, the single most important diagnostic study performed in boys with imperforate anus prior to definitive repair. Accurate understanding of the anatomy of the anorectal malformation including an associated fistulous communication between the rectum and the urogenital tract is essential for optimal surgical management. Specifically, the position of the rectal pouch and recto-urinary fistula relative to posterior sagittal structures of the perineum, especially the sacral spine, dictates the operative approach...
August 24, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#13
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#14
Yang-Qing Xu, Xiao-Hong Yang, Xin-Lin Chen, Xiu-Qiin Ji, Sheng Zhao
Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#15
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
November 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28707775/giant-fetal-hydrometrocolpos-associated-with-cloacal-anomaly-causing-postnatal-respiratory-distress
#16
Tatsuhito Kanda, Takashi Iizuka, Rena Yamazaki, Junpei Iwadare, Masanori Ono, Hiroshi Fujiwara
Persistent cloaca is a rare presentation wherein the urethra, vagina, and rectum converge into a common channel with a single perineal opening. Fetal hydrometrocolpos can result if fluid accumulates behind an obstruction of this common channel. A 29-year-old woman (G4P1021) was referred at 36 2/7 weeks of gestation for evaluation of a fetal abdominal cystic mass. Detailed ultrasonography and magnetic resonance imaging showed two symmetric cystic masses, bilateral hydronephrosis, and oligohydramnios. Elective cesarean delivery was performed at 37 0/7 weeks; the baby weighed 4043 g with Apgar scores of 5 and 6 at 1 and 5 min...
July 14, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28690994/delayed-diagnosis-of-22q11-deletion-syndrome-due-to-late-onset-hypocalcemia-in-a-11-year-old-girl-with-imperforated-anus
#17
Dong-Yoon Yoo, Hae Jung Kim, Kee Hyun Cho, Eun Byul Kwon, Eun-Gyong Yoo
Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28617177/discordant-anomalies-with-combined-features-of-pentalogy-of-cantrell-and-oeis-complex-a-case-report-in-monochorionic-twins
#18
Nique Kunapinun, Jitsupa Treetipsatit
INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins...
October 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28616723/post-operative-strictures-in-anorectal-malformation-trends-over-15%C3%A2-years
#19
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/28582959/supernumerary-nostril-two-years-follow-up
#20
Amir Labib, Ahmed Elshahat
Supernumerary nostril is a very rare congenital anomaly of the nose. Since the first patient reported by Lindsay in 1906, few number of patients were reported in the literature. Various types had been described with different surgical modalities for correction. It can be isolated or associated with other malformations such as facial cleft, esophageal atresia, and imperforate anus. Most of the patients are unilateral, but it may be bilateral. It may have a communication with a normal nasal cavity or not.In this study, the authors present a case of a 1-year-old male with a positive perinatal history of teratogen exposure had isolated supernumerary left nostril with communication to the nasal cavity...
June 2017: Journal of Craniofacial Surgery
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