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Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M Boemers, Karin Hirsch, Carlo Marcelis, Wouter F J Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M Nöthen, Heiko Reutter, Michael Ludwig, Markus Draaken
BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. METHODS: To detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, 22q11.21 duplications were excluded using multiplex ligation-dependent probe amplification...
2016: BMC Medical Genetics
V L Dronova
Complex of extrophy--epispadias--a rare inborn malformation of genitourinary system, abdominal wall muscles and pelvic bones. The observation was adduced, concerning an urinary bladder extrophy in a girl in combination with vaginal agenesia after noneffective primarily--postponed closure of urinary bladder, osteotomy (in the age of 4 yrs old), with consequent ureterosygmostomy. In the patient there was conducted a reconstructive operation for vagina creation, using nonfunctioning bladder, right-sided nephrectomy for severe ureterohydronephrosis, reconstruction of anterior abdominal wall and external genitalia...
May 2015: Klinichna Khirurhiia
Wolfgang Jäger, Anne-Odette Viertmann, Claudia Janßen, Frank Birklein, Joachim W Thüroff, Raimund Stein
Intermittent hyperammonemic encephalopathy after ureterosigmoidostomy is a rare, but if unrecognized, potentially lethal condition. Ureterosigmoidostomy was performed in a male patient with bladder extrophy. After 35 years, he developed hyperammonemic encephalopathy. Diagnostic procedures did not reveal hepatic nor metabolic disorders. Despite administration of preventive medical treatment, several episodes recurred. A durable prevention was finally achieved by conversion into an ileal conduit. Intermittent hyperammonemic encephalopathy can occur decades after ureterosigmoidostomy...
2015: Central European Journal of Urology
Ghassan Sa Salama, Mahmoud Af Kaabneh, Mohamed K Al-Raqad, Ibrahim Mh Al-Abdallah, Ayoub Ga Shakkoury, Ruba Aa Halaseh
INTRODUCTION: Cyclopia (alobar holoprosencephaly) (OMIM% 236100) is a rare and lethal complex human malformation, resulting from incomplete cleavage of prosencephalon into right and left hemispheres occurring between the 18th and the 28th day of gestation. Holoprosencephaly occurs in 1/16,000 live births, and 1/250 during embryogenesis. Approximately 1.05 in 100,000 births are identified as infants with cyclopia, including stillbirths. Cyclopia typically presents with a median single eye or a partially divided eye in a single orbit, absent nose, and a proboscis above the eye...
2015: Clinical Medicine Insights. Pediatrics
Irfan Karaca, Erdal Turk, A Basak Ucan, Derya Yayla, Gulcin Itirli, Derya Ercal
Diphallus (penile duplication) is very rare and seen once every 5.5 million births. It can be isolated, but is usually accompanied by other congenital anomalies. Previous studies have reported many concurrent anomalies, such as bladder extrophy, cloacal extrophy, duplicated bladder, scrotal abnormalities, hypospadias, separated symphysis pubis, intestinal anomalies and imperforate anus; no penile duplication case accompanied by omphalocele has been reported. We present the surgical management of a patient with multiple anomalies, including complete penile duplication, hypo-gastric omphalocele and extrophic rectal duplication...
September 2014: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
Ana M Herrera, Martin J Cohn
Genital malformations occur at a high frequency in humans, affecting ~1:250 live births. The molecular mechanisms of external genital development are beginning to be identified; however, the origin of cells that give rise to external genitalia is unknown. Here we use cell lineage analysis to show that the genital tubercle, the precursor of the penis and clitoris, arises from two populations of progenitor cells that originate at the lateral edges of the embryo, at the level of the posterior hindlimb buds and anterior tail...
2014: Scientific Reports
Emanuela Altobelli, Alfredo M Bove, Federico Sergi, Maurizio Buscarini
OBJECTIVE: To report a case of severe hydronephrosis 20 years after bladder exstrophy (BE) repair, managed by bilateral ureteral tapering and secondary ureteroneocystostomy. CASE PRESENTATION: A 21-year-old woman with a history of BE and ureteral reimplantation, presented with hematuria-dysuria syndrome and recurrent febrile urinary tract infections. After counselling, she elected to undergo bilateral ureteral tapering and second ureteroneocystostomy. CONCLUSION: Hydronephrosis secondary to ureteralvesical stricture in BE patients can be successfully managed with ureteral reimplantation associated to ureteral tapering even after a prior reimplantation...
February 2013: Current Urology
Belachew Dejene
BACKGROUND: Bladder exstrophy is a rare congenital malformation which presents a defect of anterior lower mid abdominal wall, with anteriorly deficient bladder wall, widening of symphysis pubis, and epispadias. Management includes single or multiple stage repairs and urinary diversion procedures aimed at preservation of renal function, maintenance of continence to urine, normal appearing external genitalia and satisfactory sexual function. OBJECTIVE: To review the experience of Bladder extrophy management at Tikur Anbessa University Hospital, Addis Ababa, Ethiopia, in five years...
July 2013: Ethiopian Medical Journal
Ao Takure, Vc Onuora, W Akerele
A 58-year-old Nigerian male had open prostatectomy undertaken in a private hospital 3 months before presenting at our out-patient clinic with leakage of urine and a widening supra pubic defect of 10 weeks duration. Examination showed the posterior bladder wall and visible trigone. Subsequently the defect was closed and he remained continent at follow up.
2010: Open Access Journal of Urology
P Mazeau, S Curinier, A Kandem-Simo, A Delabaere, H Laurichesse, D Lemery, D Gallot
Prenatal ultrasonographic features of patent urachus consist in anechoic proximal cord cyst communicating with the bladder associated with large umbilicus. Distinction should be made with omphalocele and bladder extrophy. Spontaneous evolution leads to rupture during mid-trimester and bladder protrusion. Karyotyping is not mandatory in isolated typical cases. Early postnatal surgery is usually required.
May 2014: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
Seyed Mohammad Vahid Hosseini, Mohammad Zarenezhad, Sakineh Falahi, Ali Amir Ahmadi, Babak Sabet, Ahmad Reza Rasekhi
BACKGROUND: Role of pelvic osteotomy in surgical management of bladder exstrophy is controversial But pelvic rim closure importantly. Bulking agents have been used for perineal and pelvic dysfunction in adults. In this study, bladder extrophy repair was performed without pubic closure And bulking agent injections were used as the strut of anterior pelvis for prevention of Organ prolapse and other functions in this series. PATIENTS AND METHODS: During the period 2008-2012, twenty-five exstrophy-epispadias complex patients with a mean age of 14 months underwent surgical reconstruction...
January 2013: African Journal of Paediatric Surgery: AJPS
S Holz, J Moyson, B Henriet, M Idrissi-Kaitouni, T Quackels, M Van den Bosche, T Roumeguère
We report the case of a 24-year old man with a past history of vesical extrophy and ureterosigmoidostomy in childhood, admitted with acute left flank pain and acute renal failure. The complaints started the day following the endoscopic resection of a sigmoid polyp. The stricture of the ureterosigmoid junction was diagnosed by intravenous urography. Conservative treatment with endo-ureteral dilatation was successfully performed. At 2 years of follow-up, the patient is still asymptomatic, without any residual hydronephrosis...
March 2013: Progrès en Urologie
Seyed Mohammad Vahid Hosseini, Ali Bahador, Hamid Reza Foroutan, Babak Sabet, Bita Geramizadeh, Mohammad Zarenezhad
Surgical glues have been used in pediatric surgery because of the fragility of tissue, and to prevent major surgeries. The present report describes our experience with using a new cyanoacrylate Glubran 2 (Viareggio, Italy) in the treatment of five cases of tracheoesophageal atresia with fistula (one fistula protection, three recurrent fistula, and one unstable patients), two cases of hypospadias, one case of vesicutanouse fistula after bladder extrophy, and one case of cloacal extrophy from January-December 2008...
March 2011: Iranian Journal of Medical Sciences
Wajid Jawaid, Benjamin Chan, Edwin C Jesudason
BACKGROUND: Subspecialization defined pediatric surgery using Alder Hey innovations in neonatal surgical units (Rickham) and anesthesia (Jackson-Rees). In neonatal surgery, United Kingdom subspecialization for cloacal extrophy and biliary atresia acknowledges their dependence on multidisciplinary management and the desirability of caseload for training. We phased in regional subspecialization for esophageal atresia (EA) repair and replacement surgery while trainee numbers increased nationally to reduce hours...
July 2012: Journal of Pediatric Surgery
A Nikolov, P Markov, S Chanachev
Authors present two cases of pregnancy and delivery of patients with bladder extrophy. Both had undergone various and different reconstructive surgical operations in childhood, which gave them the opportunity to lead a normal life, to become pregnant and deliver. A total of three deliveries are observed--one with Caesarian, one--normal vaginal delivery and one--normal delivery with breech presentation. Bladder extrophy is a rare and severe innate anomaly of the genital-urinary tract, associated with genital, urologic and orthopedic malformations...
2011: Akusherstvo i Ginekologii︠a︡
Punit Bansal, Aman Gupta, Ritesh Mongha, Anup Kumar Kundu
Bladder exstrophy is rare and associated with an increased incidence of bladder cancer. Unreconstructed bladder extrophy presenting in an adult is very rare as most of the patients undergo repair in childhood. Most of the cancers are adenocarcinomas. We report a rare case of squamous cell carcinoma occurring in exstrophic unreconstructed bladder in a 58-year-old male patient.
January 2012: Saudi Journal of Kidney Diseases and Transplantation
Jeffrey J Tomaszewski, Marc C Smaldone, Glenn M Cannon, Francis X Schneck, David J Hackam, Steven G Docimo
Variant presentations of cloacal exstrophy are exceedingly rare. Historically, genetic males with cloacal extrophy were re-assigned to the female gender due to phallic inadequacy. Early recognition of intravesical phallic structures in cloacal exstrophy cases may impact gender reassignment discussions and long-term gender outcomes. We report the case of a male infant with cloacal exstrophy presenting with an intravesical phallus, review and compare the presenting anatomical features of the three previously reported cases, and discuss the potential impact of these findings on gender reassignment in these complex children...
August 2012: Journal of Pediatric Urology
A T Tadzhibaev, Zh K Beknazarov
A new less traumatic method of pubic bone approximation in extrophy of the urinary bladder in children is proposed. To ascertain efficacy of the method, results of 3-stage reconstructive plastic operations with pubic bone approximation without osteotomy (group 1, n=27), one-stage reconstructive plastic operations with transversal suturing of the anterior abdominal wall (group 2, n=19), and one-stage reconstructive plastic operations according to the new techniques of pubic bone approximation (group 3, n=9) were compared...
March 2011: Urologii︠a︡
Alev Atis, Gokhan Demirayak, Burcu Saglam, Figen Aksoy, Cihat Sen
A case of cranioraschischisis including incomplete pentalogy of Cantrell (PC) is described. The female fetus had a large omphalocele with evisceration of the heart, left lung, liver, stomach, and intestines accompanying anencephaly, cervical, thoracal lumbar, spina bifida. The fetus had ectopia cordis and diaphragmatic agenesia with an intact sternum. We present a case of a neonate with the stigmata for PC with the exception of a sternal defect. A literature review is also included. Sonographers should check for ventral and dorsal anomalies with PC because they may occur simultaneously...
2011: Fetal and Pediatric Pathology
Stefanie Maerzheuser, Ekkehart Jenetzky, Nadine Zwink, Heiko Reutter, Enrika Bartels, Sabine Grasshoff-Derr, Stefan Holland-Cunz, Stuart Hosie, Eberhard Schmiedeke, Nicole Schwarzer, Nicole Spychalski, Gabriel Goetz, Dominik Schmidt
OBJECTIVE: The aim of the German Network for Congenital Uro-REctal Malformations is to collect data of affected patients with anorectal malformation (ARM) or extrophy-epispadias complex, and to investigate molecular causes, clinical implications, and psychosocial outcome. The current issue was to assess the postoperative sequelae related to lower urinary tract dysfunction in patients with ARM. MATERIALS AND METHODS: Two hundred and sixty-seven patients with ARM (112 females, 155 males, median age 6 years, range 0-56 years) were investigated via standardized case report forms comprising interview, analysis of medical data, and personal questionnaires...
October 2011: Pediatric Surgery International
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