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Genital malformation

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https://www.readbyqxmd.com/read/29237851/micrornas-regulate-the-sesquiterpenoid-hormonal-pathway-in-drosophila-and-other-arthropods
#1
Zhe Qu, William G Bendena, Wenyan Nong, Kenneth W Siggens, Fernando G Noriega, Zhen-Peng Kai, Yang-Yang Zang, Alex C Koon, Ho Yin Edwin Chan, Ting Fung Chan, Ka Hou Chu, Hon Ming Lam, Michael Akam, Stephen S Tobe, Jerome Ho Lam Hui
Arthropods comprise the majority of all described animal species, and understanding their evolution is a central question in biology. Their developmental processes are under the precise control of distinct hormonal regulators, including the sesquiterpenoids juvenile hormone (JH) and methyl farnesoate. The control of the synthesis and mode of action of these hormones played important roles in the evolution of arthropods and their adaptation to diverse habitats. However, the precise roles of non-coding RNAs, such as microRNAs (miRNAs), controlling arthropod hormonal pathways are unknown...
December 20, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/29231253/internal-venous-anomalies-in-patients-with-a-genital-venous-malformation
#2
Caitlin M Peterman, Patricia S Todd, Anna P Lillis, Steven J Fishman, Marilyn G Liang
BACKGROUND: Cutaneous venous malformation (VM) can be associated with internal vascular anomalies. Our objective was to investigate the frequency of internal vascular anomalies in patients with an isolated genital venous malformation to assess the utility of screening for internal findings. METHODS: We retrospectively reviewed our Vascular Anomalies Center database for patients with a focal genital venous malformation presenting between 1999 and 2016. Abdominal and pelvic imaging reports were reviewed for internal vascular anomalies...
December 12, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29223670/cystourethroscopy-versus-contrast-studies-in-urogenital-sinus-and-cloacal-anomalies-in-children
#3
Khaled Ashour, Sameh Shehata, Ahmed Osheba
BACKGROUND: Cloacal malformation is a spectrum of diseases affecting females, resulting in abnormal confluence of the urinary system, genital system, and/or gastrointestinal system. Proper reconstruction depends mainly on accurate preoperative illustration of the abnormal anatomy. Among the various modalities to delineate the urogenital sinus and the distances to confluence, lies the radiological contrast study, as well as the preoperative diagnostic cystourethroscopy. AIM OF THE STUDY: The aim of this study was to compare the accuracy of the contrast study and diagnostic cystourethroscopy in the demonstration of the exact changes in anatomy resulting from urogenital sinus / cloacal abnormalities...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29221468/fever-in-pregnancy-and-the-risk-of-congenital-malformations-a-cohort-study
#4
L Sass, S K Urhoj, J Kjærgaard, J W Dreier, K Strandberg-Larsen, A-M Nybo Andersen
BACKGROUND: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester was associated with an increased risk of congenital malformations in the offspring...
December 8, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29205164/genital-reconstruction-with-integra%C3%A2-artificial-dermis-after-radical-resection-in-a-boy-with-diffuse-lymphangiomatosis
#5
Ana Rosa Tardáguila Calvo, José María Angulo Madero, Alberto Parente, Rosa María Romero, Susana Rivas
OBJECTIVE: Lymphangiomatosis is a rare disease affecting lymphatic vessels that causes a marked increase of them in the affected area. The final objective of treatment of the genital disease is to preserve sexual function and voiding with a satisfactory aesthetic result with the aim to minimize the emotional impact. METHODS: For the first time in children, we report a case of local reconstruction using artificial dermis after the excision of a genital lymphatic malformation in an eight year old patient...
December 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/29204238/crossed-fused-renal-ectopia-case-report-and-review-of-the-literature
#6
Anna Mudoni, Francesco Caccetta, Maurizio Caroppo, Fernando Musio, Antonella Accogli, Maria Dolores Zacheo, Maria Domenica Burzo, Vitale Nuzzo
Crossed fused renal ectopia is a rare congenital anomaly, and is mostly detected incidentally. A 45-year-old man, during investigation for recurrent abdominal pain, was found to have an empty left renal fossa and right crossed renal ectopia with fusion on ultrasonography. In the present case, there were no abnormalities and/or alteration of the renal function. Abdominal tomography scan with contrast medium confirmed the diagnosis. Ectopic kidney is often associated with other abnormal situations such as agenesis, vascular malformation, incontinence, a palpable abdominal mass, urinary tract infection, high incidence of stone formation, and genital anomalies...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29177010/7p15-deletion-as-the-cause-of-hand-foot-genital-syndrome-a-case-report-literature-review-and-proposal-of-a-minimum-region-for-this-phenotype
#7
Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria Del Castillo, Sara Frías
Background: Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region. Case presentation: We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties...
2017: Molecular Cytogenetics
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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