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Genital malformation

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https://www.readbyqxmd.com/read/29126846/sexual-function-and-quality-of-life-in-adult-male-individuals-with-exstrophy-epispadias-complex-a-survey-of-the-german-cure-network
#1
J Traceviciute, N Zwink, E Jenetzky, H Reutter, K Hirsch, R Stein, W H Rösch, A K Ebert
OBJECTIVE: To investigate sexual function and quality of life (QoL) in adult male individuals with exstrophy-epispadias complex (EEC). Data from the German network for congenital uro-rectal malformations (CURE-Net) were used. PATIENTS AND METHODS: 51 males (≥18 years) recruited by CURE-Net between 2009 and 2012 were re-contacted per mail and asked to fill out four questionnaires including International Index of Erectile Function (IIEF-5), Cologne assessment of Erectile Dysfunction (KEED), the Short-Form 36 (SF-36) and one self-designed questionnaire about their medical history, current health status, sexual experience...
November 7, 2017: Urology
https://www.readbyqxmd.com/read/29126155/isl1-mediates-mesenchymal-expansion-in-the-developing-external-genitalia-via-regulation-of-bmp4-fgf10-and-wnt5a
#2
Saunders T Ching, Carlos R Infante, Wen Du, Amnon Sharir, Sungdae Park, Douglas B Menke, Ophir D Klein
Genital malformations are among the most common human birth defects, and both genetic and environmental factors can contribute to these malformations. Development of the external genitalia in mammals relies on complex signaling networks, and disruption of these signaling pathways can lead to genital defects. Islet-1 (ISL1), a member of the LIM/Homeobox family of transcription factors, has been identified as a major susceptibility gene for classic bladder exstrophy in humans, a common form of the bladder exstrophy-epispadias complex (BEEC), and is implicated in a role in urinary tract development...
November 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29112520/maternal-diabetes-mellitus-and-genital-anomalies-in-male-offspring-a-nationwide-cohort-study-in-two-nordic-countries
#3
Linn Håkonsen Arendt, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Sven Cnattingius, Gunnar Petersson, Erik Thorlund Parner, Cecilia Høst Ramlau-Hansen
BACKGROUND: Diabetes in pregnancy has been associated with an increased risk of congenital malformations overall, but studies on genital anomalies in boys are conflicting and possible causal mechanisms are not well understood. Previous studies have mainly assessed pre-gestational and gestational diabetes in combination. Yet considering the vulnerable time windows for the genital anomalies, associations could well differ between types of diabetes and between the two genital anomalies and we therefore aimed to study this further...
November 6, 2017: Epidemiology
https://www.readbyqxmd.com/read/29082625/charged-with-neural-crest-defects
#4
REVIEW
Silke Pauli, Ruchi Bajpai, Annette Borchers
Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest-derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established a role of CHD7 in neural crest development...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#5
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29033484/congenital-malformation-and-autism-spectrum-disorder-insight-from-a-rat-model-of-autism-spectrum-disorder
#6
Rakesh K Ruhela, Phulen Sarma, Shringika Soni, Ajay Prakash, Bikash Medhi
AIMS AND OBJECTIVES: The primary aim was an evaluation of the pattern of gross congenital malformations in a rat model of autism spectrum disorder (ASD) and the secondary aim was characterization of the most common gross malformation observed. MATERIALS AND METHODS: In females, the late pro-oestrous phase was identified by vaginal smear cytology, and then, they were allowed to mate at 1:3 ratio (male: female). Pregnancy was confirmed by the presence of sperm plug in the vagina and presence of sperm in the vaginal smear...
May 2017: Indian Journal of Pharmacology
https://www.readbyqxmd.com/read/29030159/obstructive-m%C3%A3-llerian-anomalies-in-menstruating-adolescent-girls-a-report-of-22-cases
#7
Karina Kapczuk, Zbigniew Friebe, Kinga Iwaniec, Witold Kędzia
STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche DESIGN: A retrospective case series of adolescents who between 2009 and 2016 were treated for vaginal or uterine obstructive malformations diagnosed after menarche SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland PARTICIPANTS: Twenty-two patients who, at the age of 11.4-18.2 (median 13.1) years, between 2 and 74 (median 7.5) months after menarche, underwent surgical repair of obstructive genital anomaly MAIN OUTCOME MEASURES: Müllerian defect type, presentation, radiologic findings, pre- and postoperative course RESULTS: Eighteen patients (81...
October 10, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28989925/genital-tract-cavernous-hemangioma-as-a-rare-cause-of-postpartum-hemorrhage
#8
Bo Ram Yu, Ga Eul Lee, Dong Hyu Cho, Young Ju Jeong, Jeong Heon Lee
Cavernous hemangiomas rarely involve the female genital tract. It is difficult to identify vascular malformations when these lesions are concealed in the vagina or deep vulva area. We present a rare case of vaginal cavernous hemangioma in a 30-year-old primiparous woman with an early severe postpartum hemorrhage (PPH) and delayed continuous bleeding from the episiotomy site. She was treated successfully with transarterial embolization of the left vaginal artery. To our knowledge, this is the first reported case of PPH caused by rupture of a vaginal hemangioma during vaginal delivery in English literature...
September 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28982617/ointment-fistulography-introducing-a-novel-technique-for-single-or-multiple-urethrocutaneous-fistula-diagnosis-after-hypospadias-surgery
#9
Sarah Mozafarpour, Abdol-Mohammad Kajbafzadeh, Reza Abbasioun, Ali Akbar Habibi, Behnam Nabavizadeh
INTRODUCTION AND OBJECTIVE: Hypospadias is a common congenital malformation of the male genital tract. The most frequent complication after hypospadias repair is urethrocutaneous fistula.(1) Its incidence has been reported up to 35% worldwide.(2) The diagnosis of these fistulas is sometimes challenging particularly with tiny and multiple fistulas. Usually, parents complain of urinary spraying, sprinkling, or passing a single stream of urine from the undersurface of the penis after the surgery...
August 2017: Urology
https://www.readbyqxmd.com/read/28947713/a-missense-mutation-of-hoxa13-underlies-hand-foot-genital-syndrome-in-a-chinese-family
#10
Lihua Cao, Chen Chen, Yunji Leng, Lulu Yan, Shusen Wang, Xue Zhang, Yang Luo
Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability of HOXA13 to activate transcription of the human EPHA7 promoter...
September 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28937050/preoperative-evaluation-for-complex-female-genital-tract-malformation-using-three-dimensional-printing-technology
#11
Shu Wang, Shan Deng, Lan Zhu, Jing-Jing Lu, Yue Wang, Jing-He Lang
No abstract text is available yet for this article.
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-with-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#12
Anne Elodie Millischer, David Grevent, Véronique Rousseau, Neil O'Gorman, Pascale Sonigo, Bettina Bessieres, Yves Ville, Nathalie Boddaert, Laurent J Salomon
OBJECTIVE: To compare the accuracy of magnetic resonance imaging (MRI) and ultrasound (US) to diagnose and characterize congenital obstructive genital abnormalities. METHOD: Retrospective cohort of 20 fetuses who underwent a fetal MRI following a US diagnosis of obstructive urogenital malformation. We compared MRI and US findings and their correlation with the definitive diagnosis. RESULT: The correct diagnosis was obtained in 6/20 (30%) cases and 19/20 cases (95%) with US and MRI, respectively...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28914079/co-infection-of-human-herpesvirus-type-2-hhv-2-and-human-immunodeficiency-virus-hiv-among-pregnant-women-in-rio-de-janeiro-brazil
#13
Lyana Rodrigues Pinto Lima, Luis Eduardo Barros Costa Fernandes, Daniel A M Villela, Mariza Gonçalves Morgado, José Henrique Pilotto, Vanessa Salete de Paula
Pregnant women who are infected with the Human Immunodeficiency Virus (HIV) are particularly vulnerable to severe and recurrent infections with Human Herpesvirus 2 (HHV-2). Neonatal transmission of HHV-2 has been associated with malformations and neurological sequelae in infants, which makes it very important to perform antenatal monitoring for genital herpes. In the study, 134 pregnant women infected with HIV were tested for HHV-2 IgM and IgG using an enzyme-linked immunosorbent assay (ELISA) and had HHV-2 DNA analyzed by Real Time Polymerase Chain Reaction (qPCR)...
September 15, 2017: AIDS Care
https://www.readbyqxmd.com/read/28893003/spectrum-of-mri-appearance-of-mayer-rokitansky-kuster-hauser-mrkh-syndrome-in-primary-amenorrhea-patients
#14
Deb Kumar Boruah, Shantiranjan Sanyal, Bidyut Bikash Gogoi, Kangkana Mahanta, Arjun Prakash, Antony Augustine, Sashidhar Achar, Hiranya Baishya
INTRODUCTION: Mayer-Rokitansky-Kuster-Hauser (MRKH) synd-rome is a malformation in female genital tract due to interrupted embryonic development of para-mesonephric ducts leading to uterine and proximal vagina aplasia or hypoplasia. AIM: To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: A cross-sectional study comprising of 11 patients of MRKH syndrome presented in a tertiary care centre from March 2016 to February 2017 evaluated in 1...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
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
#15
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/28863937/maternal-endometriosis-and-genital-malformations-in-boys-a-danish-register-based-study
#16
Linn Håkonsen Arendt, Morten Søndergaard Lindhard, Tine Brink Henriksen, Axel Forman, Jørn Olsen, Cecilia Høst Ramlau-Hansen
OBJECTIVE: To investigate the association between maternal endometriosis and occurrence of the genital anomalies cryptorchidism and hypospadias in sons. DESIGN: Population-based cohort study. SETTING: Not applicable. PATIENT(S): All live-born singleton boys born from 1978 to 2012. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Cryptorchidism and hypospadias in boys based on information from the Danish National Patient Register...
October 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28713005/steroid-5-alpha-reductase-type-2-srd5a2-gene-v89l-polymorphism-and-hypospadias-risk-a-meta-analysis
#17
K Zhang, Y Li, Y Mao, M Ma
BACKGROUND: Hypospadias is a common congenital malformation in males, in which the urethral orifice is found on the ventral side of the penis as a result of incomplete fusion of urethral folds. The etiology of hypospadias is poorly understood, and may be multifactorial, including genetic, endocrine and environmental factors. The steroid 5-alpha-reductase type 2 (SRD5A2) gene, which is mainly expressed in the ventral side of the urethra in the process of male genital development, plays an important role in urethral shaping...
June 28, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28666494/quadro-cornuate-uterus
#18
Yasmeen Nauman, Samia Husain
Congenital malformations of the female genital tract are a group of miscellaneous deviations from normal anatomy with diverse spectrum. Mullerian anomalies are thought to be present in 0.5% of female population. Three quarter of women remain asymptomatic, the remaining quarter presents with a variety of symptoms including primary amenorrhea, cyclical pain, severe dysmenorrhea, pelvic mass, ectopic pregnancy, infertility and recurrent miscarriages. The American Fertility Society (AFS) classification has been the most widely used classification for categorizing these abnormalities...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28647574/a-rare-uterine-malformation-asymmetric-septate-uterus
#19
Alper Biler, Ali Akdemir, Nuri Peker, Fatih Sendag
STUDY OBJECTIVE: To demonstrate a step by step surgical hysteroscopy technique in a patient with asymmetric uterine septum and transverse uterine septum that was not previously described in the literature. DESIGN: Resection of an asymmetric uterine septum by laparoscopy and ultrasound-guided hysteroscopy (Canadian Task Force classification III). The video was assumed exempt from official review by our institutional review board. SETTING: A septate uterus is defined as the uterus in which the uterine cavity is longitudinally divided by the septum [1]...
June 22, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28615173/risk-of-major-congenital-malformations-in-relation-to-maternal-overweight-and-obesity-severity-cohort-study-of-1-2-million-singletons
#20
Martina Persson, Sven Cnattingius, Eduardo Villamor, Jonas Söderling, Björn Pasternak, Olof Stephansson, Martin Neovius
Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy.Design Population based cohort study.Setting Nationwide Swedish registries.Participants 1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages...
June 14, 2017: BMJ: British Medical Journal
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