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Cloacal malformations

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https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#1
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/28797517/gynecologic-anatomic-abnormalities-following-anorectal-malformations-repair
#2
Alejandra Vilanova-Sanchez, Carlos A Reck, Kate A McCracken, Victoria A Lane, Alessandra C Gasior, Richard J Wood, Marc A Levitt, Geri D Hewitt
BACKGROUND/AIM: Patients may present with gynecologic concerns after previous posterior sagittal anorectoplasty (PSARP) for repair of an anorectal malformation (ARM). Common findings include an inadequate or shortened perineal body, as well as introital stenosis, retained vaginal septum, and remnant rectovestibular fistula. An inadequate or shortened perineal body may impact fecal continence, sexual function and recommendations regarding obstetrical mode of delivery. We describe our experience with female patients referred to our center for evaluation of their previously repaired ARM, with a specific focus on perineal body anatomy and concomitant gynecologic abnormalities...
July 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28753873/comment-on-neurogenic-bladder-in-a-girl-after-surgery-for-cloacal-malformation
#3
Raimund Stein, Nina Huck
In children with a neurogenic bladder and bowel, all options for continent and incontinent diversions have to be discussed in detail including all advantages and disadvantages with the patient, parents, caregivers and all disciplines involved.
July 5, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28753841/case-presentation-neurogenic-bladder-in-a-girl-after-surgery-for-cloacal-malformation
#4
Goedele M A Beckers, R Jeroen A van Moorselaar
A girl born in 2006 has been under close surveillance in our pediatric urology unit since birth. Besides cloacal malformation, she has associated spinal cord dysraphism, uterus didelphys, and a vaginal septum.
July 4, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28739627/reconstruction-of-urethra-using-appendix-in-a-patient-with-cloacal-malformation
#5
Sandeep Gupta, Barun Kumar, Sandip Basu, Dilip Kumar Pal
We report a case of 21-year-old young woman with congenital cloacal malformation. She was operated at the age of 1.5 years separating the rectum from common opening as a two-stage repair. She was incontinent in the earlier part of her life but she became continent to some extent later in early adulthood. She presented with urinary stress incontinence following delivery of dead fetus of 6 months. She underwent multiple investigations revealing common opening of bladder neck and vagina. A multidisciplinary evaluation was done and she underwent closure of common channel and neourethra reconstruction using pedicled appendix...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28696998/evaluation-and-management-of-vaginoplasty-complications
#6
Anne-Marie Amies Oelschlager, Anna Kirby, Lesley Breech
PURPOSE OF REVIEW: Indications for vaginoplasty include congenital conditions such as adrenal hyperplasia, cloacal malformations, and Müllerian agenesis, acquired conditions including stenosis from radiation or surgical resection for malignancy, and gender affirmation. All vaginoplasty techniques carry significant risk of both immediate and long-term complications. RECENT FINDINGS: The purpose of this study is to provide a review of the evaluation and management of the neovagina, addressing management of human papilloma virus infections and complications including stenosis, fistula, prolapse, and neovaginal colitis...
July 10, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28673795/use-of-3d-reconstruction-cloacagrams-and-3d-printing-in-cloacal-malformations
#7
Jennifer J Ahn, Margarett Shnorhavorian, Anne-Marie E Amies Oelschlager, Beth Ripley, Giridhar M Shivaram, Jeffrey R Avansino, Paul A Merguerian
INTRODUCTION: Cloacal anomalies are complex to manage, and the anatomy affects prognosis and management. Assessment historically includes examination under anesthesia, and genitography is often performed, but these do not consistently capture three-dimensional (3D) detail or spatial relationships of the anatomic structures. Three-dimensional reconstruction cloacagrams can provide a high level of detail including channel measurements and the level of the cloaca (<3 cm vs. >3 cm), which typically determines the approach for surgical reconstruction and can impact long-term prognosis...
June 20, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28671963/effects-of-selective-and-combined-activation-of-estrogen-receptor-%C3%AE-and-%C3%AE-on-reproductive-organ-development-and-sexual-behaviour-in-japanese-quail-coturnix-japonica
#8
Anna Mattsson, Björn Brunström
Excess estrogen exposure of avian embryos perturbs reproductive organ development in both sexes and demasculinizes the reproductive behaviors of adult males. We have previously shown that these characteristic effects on the reproductive organs also can be induced by exposure of Japanese quail (Coturnix japonica) embryos to selective agonists of estrogen receptor alpha (ERα). In contrast, the male copulatory behavior is only weakly affected by developmental exposure to an ERα agonist. To further elucidate the respective roles of ERα and ERβ in estrogen-induced disruption of sexual differentiation, we exposed Japanese quail embryos in ovo to the selective ERα agonist 16α-lactone-estradiol (16αLE2), the selective ERβ agonist WAY-200070, or both substances in combination...
2017: PloS One
https://www.readbyqxmd.com/read/28616723/post-operative-strictures-in-anorectal-malformation-trends-over-15%C3%A2-years
#9
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/28601900/embryological-and-clinical-implications-of-the-association-between-anorectal-malformations-and-spinal-dysraphisms
#10
Giorgia Totonelli, Raffaella Messina, Francesco Morini, Giovanni Mosiello, Paolo Palma, Marianna Scuglia, Barbara D Iacobelli, Pietro Bagolan
PURPOSE: To describe the association of anorectal malformation (ARM) and spinal dysraphism (SD) in terms of impact on the management of SD and embryogenetic implications. METHODS: Patients with SD associated with (A) or without (B) ARM were included. The two groups were further divided into operated on (A1/B1) or not (A2/B2) for SD. Groups A and B were compared for type of SD (embryogenetic classification) and prevalence of neurosurgery; Groups A1 vs. A2 for type of ARM (Wingspread classification); Groups A1 vs...
August 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28254239/psychosexual-development-management-of-bladder-exstrophy-epispadias-in-complex-patients
#11
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
https://www.readbyqxmd.com/read/28191911/mutations-of-myh14-are-associated-to-anorectal-malformations-with-recto-perineal-fistulas-in-a-small-subset-of-chinese-population
#12
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
https://www.readbyqxmd.com/read/27764886/-female-preterm-monozygotic-twins-discordant-for-fetal-megacystis-due-to-cloacal-dysgenesis-after-conception-by-intracytoplasmatic-sperm-injection-case-report-and-review-of-literature
#13
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
https://www.readbyqxmd.com/read/27647502/ep10-37-prenatal-diagnosis-of-cloacal-malformation-with-vater-syndrome-a-case-report
#14
C T Hsieh
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27507534/diagnostic-imaging-and-cataloguing-of-female-genital-malformations
#15
REVIEW
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
https://www.readbyqxmd.com/read/27477499/the-expression-analysis-of-bmpr1a-and-bmp2-during-hindgut-development-in-rat-embryos-with-anorectal-malformations
#16
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
https://www.readbyqxmd.com/read/27363330/congenital-renal-anomalies-in-cloacal-exstrophy-is-there-a-difference
#17
COMPARATIVE STUDY
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
https://www.readbyqxmd.com/read/27238502/the-association-of-the-severity-of-anorectal-malformations-and-intestinal-malrotation
#18
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
https://www.readbyqxmd.com/read/27208857/requirement-for-basement-membrane-laminin-%C3%AE-5-during-urethral-and-external-genital-development
#19
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
https://www.readbyqxmd.com/read/27123401/cloacal-exstrophy-with-mature-teratoma-a-rare-association-in-a-neonate
#20
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
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