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Cloacal malformations

M Di Grazia, S Pellizzoni, L G Tonegatti, W Rigamonti
INTRODUCTION: Bladder-exstrophy-epispadias complex (BEEC) represents a spectrum of urogenital step-wise malformations: epispadias, complete exstrophy, and cloacal exstrophy. Psychosexual development in adolescent patients with BEEC may become especially problematic. At present, there are few contributions in the literature investigating the validity of psychosexual treatment in order to tackle this particularly emotional and personal development phase. OBJECTIVE: The study aimed at verifying the efficacy of an intervention methodology for psychosexual support of a group of adolescents with BEEC...
June 9, 2016: Journal of Pediatric Urology
Zhongxian Zhu, Lei Peng, Guanglin Chen, Weiwei Jiang, Ziyang Shen, Chunxia Du, Rujin Zang, Yang Su, Hua Xie, Hongxing Li, Yankai Xia, Weibing Tang
Anorectal malformations (ARMs) are among the most commonly congenital abnormalities of distal hindgut development, ranging from anal stenosis to anal atresia with or without fistulas and persistent cloaca. The etiology remains elusive for most ARM cases and the majority of genetic studies on ARMs were based on a candidate gene approach. Here, we first performed whole-exome sequencing in a non-consanguineous Chinese family and the result revealed a homozygous mutation (GenBank: NM_001077186; c.5393C>A[p.Ala1806Asp]) in MYH14, which encodes one of the NM II heavy chain (NMHC II) proteins playing vital roles in cell adhesion and migration...
February 13, 2017: Clinical Genetics
M Schneider, I Schmeh, A Fruth, C Whybra-Trümpler, E Mildenberger
Monozygotic twins were previously regarded as "identical". By now an increasing number of case reports of monozygotic but discordant twins have been reported, and therefore discordance between monozygotic twins is being investigated intensively. We report a case of female preterm monozygotic twins who were discordant for fetal megacystis due to cloacal dysgenesis. Pregnancy was achieved after intracytoplasmatic sperm injection and transfer of 2 embryos. By the first trimester fetal megacystis with consecutive oligohydramnios and hypoplasia of the lungs was diagnosed...
October 2016: Zeitschrift Für Geburtshilfe und Neonatologie
C T Hsieh
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Pedro Acién, Maribel Acién
UNLABELLED: To help physicians and radiologists in the diagnosis of female genito-urinary malformations, especially of complex cases, the embryology of the female genital tract, the basis for Müllerian development anomalies, the current classifications for such anomalies and the comparison for inclusion and cataloguing of female genital malformations are briefly reviewed. The use of the embryological system to catalogue female genito-urinary malformations may ultimately be more useful in correlations with clinical presentations and in helping with the appropriate diagnosis and treatment...
October 2016: Insights Into Imaging
Xiao Bing Tang, Jin Zhang, Wei Lin Wang, Zheng Wei Yuan, Yu Zuo Bai
The aim of this study was to determine Bmpr1a and Bmp2 expression patterns during anorectal development in normal and anorectal malformation (ARM) embryos with a view to establishing the possible role of Bmpr1a and Bmp2 in ARM pathogenesis. ARM was induced with ethylenethiourea on the 10th gestational day (GD10) in rat embryos. The embryos were harvested by Cesarean deliveries. The expression of Bmpr1a and Bmp2 was evaluated in normal rat embryos (n=213) and ARM embryos (n=236) from GD14 to GD16. Immunohistochemical staining revealed, in normal embryos, that Bmpr1a and Bmp2 was mainly expressed on the epithelium of the urorectal septum (URS) and the cloacal membrane (CM) on GD14 and GD15...
August 2016: Experimental and Molecular Pathology
K D Suson, B Inouye, A Carl, J P Gearhart
INTRODUCTION: Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. OBJECTIVE: The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies...
August 2016: Journal of Pediatric Urology
Bruno Martinez-Leo, Patrick Chesley, Shumyle Alam, Jason S Frischer, Marc A Levitt, Jeffrey Avansino, Belinda Hsi Dickie
INTRODUCTION: Intestinal malrotation is a known association of anorectal malformations (ARM). Exact incidence, prognosis and surgical implications related to ARM are unknown. The aim of this study was to identify relevant associations between ARM and the presence of malrotation. METHODS: Records of patients from two referral centers were retrospectively analyzed looking for malrotation associated to ARM and its management, as well as factors for functional prognosis...
August 2016: Journal of Pediatric Surgery
Congxing Lin, Ralf Werner, Liang Ma, Jeffrey H Miner
Hypospadias, a congenital malformation of the penis characteristic of an abnormal urethral orifice, affects 1 in every 125 boys, and its incidence is rising. Herein we test the hypothesis that the basement membrane protein laminin α5 (LAMA5) plays a key role in the development of the mouse genital tubercle, the embryonic anlage of the external genitalia. Using standard histological analyses and electron microscopy, we characterized the morphology of the external genitalia in Lama5 knockout (LAMA5-KO) mouse embryos during both androgen-independent genital tubercle development and androgen-mediated sexual differentiation...
August 2016: Mechanisms of Development
Prashant Sadashiv Patil, Paras Kothari, Abhaya Gupta, Rahul Gupta, Geeta Kekre, Vishesh Dikshit, Ravi Kamble
Cloacal exstrophy is a very rare and complex malformation. We report a neonate of cloacal exstrophy with mature teratoma presenting as a component of exstrophy. To our knowledge this has not been reported in the literature.
April 2016: Journal of Neonatal Surgery
Ty Higuchi, Gundela Holmdahl, Martin Kaefer, Martin Koyle, Hadley Wood, Christopher Woodhouse, Dan Wood
OBJECTIVE: To provide a comprehensive overview of genital anomalies encountered among adolescents, including late effects of problems addressed earlier in childhood. MATERIALS AND METHODS: The major congenital genital anomalies encountered in pediatric urology were identified. They include hypospadias, exstrophy-epispadias, cloacal malformations, disorders of sexual development, undescended testes, and some acquired penile anomalies seen in adolescence (priapism, adolescent varicocele)...
August 2016: Urology
Tianshen Hu, Travis Browning, Kristen Bishop
Several theories have been put forth to explain the complex yet symmetrical malformations and the myriad of clinical presentations of caudal duplication syndrome. Hereby, reported case is a 28-year-old female, gravida 2 para 2, with congenital caudal malformation who has undergone partial reconstructive surgeries in infancy to connect her 2 colons. She presented with recurrent left lower abdominal pain associated with nausea, vomiting, and subsequent feculent anal discharge. Imaging reveals duplication of the urinary bladder, urethra, and colon with with cloacal malformations and fistulae from the left-sided cloaca, uterus didelphys with separate cervices and vaginal canals, right-sided aortic arch and descending thoracic aorta, and dysraphic midline sacrococcygeal defect...
March 2016: Radiology case reports
Risto J Rintala
Persistent cloaca remains a challenge for pediatric surgeons and urologists. Reconstructive surgery of cloacal malformations aims to repair the anorectum, urinary tract, and genital organs, and achieve fecal and urinary continence as well as functional genital tract capable for sexual activity and pregnancy. Unfortunately, even in most experienced hands these goals are not always accomplished. The endpoint of the functional development of bowel, urinary, and genital functions is the completion of patient's growth and sexual maturity...
April 2016: Seminars in Pediatric Surgery
Brian T Caldwell, Duncan T Wilcox
Cloacal anomalies are the most complex and severe form of congenital anorectal malformations (ARM) and urogenital malformations, and it has been well documented that increased severity of ARM leads to worse outcomes. While short-term data on persistent cloaca are available, a paucity of data on long-term outcomes exists, largely because of a lack of uniform terminology, inclusion with other ARM and evolution of the operative technique. On comprehensive review of the published literature on long-term urological outcomes in patients with cloacal anomalies, we found a significant risk of chronic kidney disease and incontinence, however, with improvements in surgical technique, outcomes have improved...
April 2016: Seminars in Pediatric Surgery
Manish N Patel
Complex cloacal malformations are associated with a wide spectrum of anatomic defects involving the gastrointestinal, urinary, and gynecologic tracts; the variety and complexity of these defects complicate surgical planning and repair. Rotational fluoroscopy with 3-D reconstruction provides precise anatomic detail, particularly regarding length of the common channel, appearance/location of the vagina(s) and bladder, which facilitates surgical planning and determination of prognosis.
April 2016: Seminars in Pediatric Surgery
Lesley Breech
Children with anorectal malformations (ARM) constitute a significant group within a pediatric surgery practice. It is important with female cases of anorectal malformations to consider the association of gynecologic anomalies, especially at the time of the definitive repair. However, it is critical to consider the association of such gynecologic anomalies when caring for patients with a cloacal anomaly. If not recognized, an opportunity to diagnose and treat such anomalies may be missed with the possibility of negative implications for future reproductive capacity...
April 2016: Seminars in Pediatric Surgery
Brian A VanderBrink, Pramod P Reddy
Cloacal malformations represent one of the most complex conditions among anorectal malformations. Urologic conditions occur with an increased frequency in cloaca patients compared to patients with other types of ARM. The morbidity of the upper and lower urinary tract dysfunction/malformations at times can be severe; manifested by urinary tract infection, lower urinary tract symptoms, urinary incontinence, chronic kidney disease, and even end stage renal disease. Long-term follow-up of patients with cloaca has described significant chronic kidney disease and end-stage renal disease...
April 2016: Seminars in Pediatric Surgery
Jose L Peiro, Federico Scorletti, Lourenco Sbragia
Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition...
April 2016: Seminars in Pediatric Surgery
Alberto Peña
This is a summary of the milestones in the history of the treatment of cloacal malformations. It is based in a comprehensive literature review of the subject, from the early times, followed by a description of the evolution of the surgical maneuvers that were created, to be able to deal with the different anatomical variants of this complex congenital malformation.
April 2016: Seminars in Pediatric Surgery
Aureen Ruby D'Cunha, Jujju Jacob Kurian, Tarun John K Jacob
Female hypospadias is a rare anomaly of the female urethra where it opens on the anterior vaginal wall anywhere between the introitus and the fornix. It is often associated with other genitourinary anomalies such as Cloacal malformation, female pseudohermaphroditism, nonneurogenic neurogenic bladder and urethral duplication. Idiopathic female pseudohermaphroditism is extremely rare, and most cases occur secondary to adrenogenital syndrome or maternal androgen exposure. We report a unique case of a 1-year and 4-month-old girl who presented with ambiguous genitalia and renal failure secondary to a non-neurogenic neurogenic bladder...
March 10, 2016: BMJ Case Reports
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