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https://www.readbyqxmd.com/read/29082726/-differential-diagnosis-and-management-of-abnormal-uterine-bleeding-in-adolescence
#1
Tiziano Motta, Antonio S Laganà, Gaetano Valenti, Valentina L LA Rosa, Marco Noventa, Amerigo Vitagliano, Benito Chiofalo, Agnese M Rapisarda, Diego Rossetti, Salvatore G Vitale
Abnormal uterine bleeding (AUB) is defined as any atypical genital bleeding originating from the uterine cavity, without the characteristics of normal menstrual period. AUB is an important symptom both for adolescents and their parents, and it usually leads to a state of anxiety. Although about 95% of AUB could be considered as a dysfunctional disorder, AUB requires well-defined diagnostic procedures in order to detect a physical cause, ruling out complex or systemic diseases, including oncological ones. Diagnostic procedures require the acquisition of a full and detailed history, and it is also crucial to obtain as much compliance from the patient as possible...
December 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/29082625/charged-with-neural-crest-defects
#2
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/29081625/sodium-glucose-transporter-2-inhibitors-and-diabetic-ketoacidosis-in-three-patients-with-diabetes-underlying-causation
#3
Jordan L Kelley, Matthew Strum, Daniel M Riche, Andrew M Chandler
Sodium glucose transporter 2 inhibitors (SGLT2i) inhibit the reabsorption of glucose in the renal tubules reducing glycemia and increasing glucosuria. The increased glucosuria causes a shift in normal flora and colonization of pathogenic microorganisms leading to an increase in mycotic genital infections. Recent Food and Drug Administration reported cases of diabetic ketoacidosis (DKA) after initiation of SGLT2i probes the question of safety with such agents. The mechanisms of ketoacidosis and the breakdown of lipids are often misunderstood, and blame is placed on lack of insulin or on medications used to treat diabetes...
July 2017: Journal of Pharmacology & Pharmacotherapeutics
https://www.readbyqxmd.com/read/29055448/a-case-of-mog-antibody-positive-bilateral-optic-neuritis-and-meningoganglionitis-following-a-genital-herpes-simplex-virus-infection
#4
Masataka Nakamura, Yuko Iwasaki, Toshiyuki Takahashi, Kimihiko Kaneko, Ichiro Nakashima, Takenobu Kunieda, Satoshi Kaneko, Hirofumi Kusaka
BACKGROUND: Myelin oligodendrocyte glycoprotein (MOG) antibody-positive optic neuritis (ON) and myelitis are recognized as important differential diagnosis of aquaporin-4 (AQP4) antibody-positive neuromyelitis optica (NMO)/NMO spectrum disorder (NMOSD). Similar to NMO/NMOSD associated with AQP4 antibodies, preceding infections have been reported in patients with MOG antibody-positive ON. This is the first report of bilateral ON following a herpes simplex virus (HSV) infection associated with a positive MOG antibody...
October 2017: Multiple Sclerosis and related Disorders
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/29017374/prevalence-of-sexually-transmitted-infections-and-their-risk-factors-among-female-sex-workers-in-isfahan-iran-a-cross-sectional-study
#6
Maryam Nasirian, Sina Kianersi, Shervin Ghaffari Hoseini, Nazila Kassaian, Majid Yaran, Parisa Shoaei, Behrooz Ataei, Reza Fadaei, Marjan Meshkati, Alireza Emami Naeini, Mojtaba Rostami Jalilian
OBJECTIVES: Female sex workers (FSWs) are at high risk of sexually transmitted infections (STIs) and form a core group to facilitate STI spreading. We aimed to estimate the prevalence of STIs among FSWs who attended Female Harm Reduction Center of Isfahan, Iran, and to determine the association between risky behaviors and STIs. STUDY DESIGN: In a cross-sectional study, 99 FSWs were recruited and interviewed about demographic characteristics and risky behaviors. A trained midwife examined FSWs for genital ulcer, abnormal vaginal discharge, and cervicitis...
January 1, 2017: Journal of the International Association of Providers of AIDS Care
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#7
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28973573/further-description-of-helicoverpa-zea-lepidoptera-noctuidae-male-genitalia-and-new-genetic-evidence-of-synonymy-with-respect-to-the-anomalous-form-heliothis-stombleri
#8
Emilia I Balbi, Fernando M Flores, Daniela S Tosto, Joel D Arneodo
The Helicoverpa/Heliothis complex can cause serious damage to agricultural crops. Phenotypic similarity makes it difficult to discriminate between closely related Helicoverpa species. Currently, morphology of the male genitalia complemented with molecular techniques constitutes the best approach for species identification. In this work, a broad microscopic examination of adult Helicoverpa zea (Boddie) males (n = 200) captured in central Argentina was carried out in order to provide a detailed description of the valvae and the phallus...
May 1, 2017: Journal of Insect Science
https://www.readbyqxmd.com/read/28970142/pathological-findings-in-explanted-vaginal-mesh
#9
Li Li, Xiaoyuan Wang, Ji Young Park, Hao Chen, Yiying Wang, Wenxin Zheng
In light of the legal issues and the shortage of data on histopathological findings, we summarized our experience on how explanted vaginal mesh specimens were managed in a surgical pathology practice during the last 5years. Clinical history and pathology reports were collected from 155 women undergoing transvaginal tape excision. The degree of chronic inflammation, fibrosis, foreign-body giant cell reactions, the number of capillary vessels and nerve fibers, and the presence or absence of adipose tissue were recorded...
September 29, 2017: Human Pathology
https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-with-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#10
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/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#11
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28857140/say-barber-biesecker-young-simpson-syndrome-and-genitopatellar-syndrome-lumping-or-splitting
#12
REVIEW
Fortunato Lonardo, Maria Serena Lonardo, Fabio Acquaviva, Matteo Della Monica, Francesca Scarano, Gioacchino Scarano
The Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) and Genitopatellar syndrome (GTPTS) are two rare but clinically well-described diseases caused by de novo heterozygous sequence variants in the KAT6B gene. Both phenotypes are characterized by significant global developmental delay/intellectual disability, hypotonia, genital abnormalities, and patellar hypoplasia/agenesis. In addition, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies are common to both phenotypes...
August 30, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28844360/marital-violence-and-sexually-transmitted-infections-among-women-in-post-revolution-egypt
#13
Seema Vyas
OBJECTIVES: To explore the relationship between past year physical or sexual partner violence against women and women's self-report of sexually transmitted infection (STI) symptoms in post-revolution Egypt; and to examine the effects of men's and women's risky sexual behavioural characteristics and structural dimensions of poverty and gender inequality on this relationship. STUDY DESIGN: This study uses the nationally representative cross-sectional demographic and health survey data conducted in 2014...
October 2017: Sexual & Reproductive Healthcare: Official Journal of the Swedish Association of Midwives
https://www.readbyqxmd.com/read/28834996/uterine-extramedullary-plasmacytoma-as-a-primary-manifestation-of-multiple-myeloma
#14
Ana Codorniz, Renato Cunha, Fernando Fernandes, Maria João Pais, Tiago Neves, Carlos Quintana
The association between plasmacytomas and multiple myeloma (MM) is well-described, and in about one third of the cases of plasmacytoma the additional study will lead to the diagnosis of MM. The finding of plasmacytomas in the genital tract is extremely rare, with sparse cases described in the literature, and these cases pose a challenge regarding the optimal guidance and treatment. This paper describes a case of uterine extramedullary plasmacytoma in a 79-year-old woman with complaints of postmenopausal abnormal uterine bleeding...
September 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28832285/prevalence-of-anogenital-hpv-infection-related-disease-and-risk-factors-among-hiv-infected-men-in-inner-city-johannesburg-south-africa-baseline-findings-from-a-cohort-study
#15
Admire Chikandiwa, Lucy Chimoyi, Pedro T Pisa, Matthew F Chersich, Etienne E Muller, Pamela Michelow, Philippe Mayaud, Sinead Delany-Moretlwe
BACKGROUND: Persistent high-risk human papillomavirus (HR-HPV) infection is associated with the development of anogenital cancers, particularly in men living with HIV (MLWH). We describe the prevalence of anogenital HPV infection, abnormal anal cytology and anogenital warts (AGWs) in MLWH in Johannesburg, and explore whether HPV infection and receipt of antiretroviral treatment is associated with detection of abnormal anal cytology and AGWs. METHODS: We enrolled a cohort of 304 sexually-active MLWH ≥18 years, who completed a questionnaire and physical examination...
July 4, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28825590/high-prenatal-exposure-to-bisphenol-a-reduces-anogenital-distance-in-healthy-male-newborns
#16
Emil Mammadov, Murat Uncu, Ceyhun Dalkan
OBJECTIVE: To estimate the relationship between cord blood BPA levels and anogenital measurements in healthy newborns. METHODS: Pregnancy and birth history together with body mass and length data, anogenital measurements, penile measurements and cord blood samples were obtained from healthy newborns. Total serum concentration of BPA was analyzed by sandwich enzyme - linked immunosorbent assays (ELISA) kit (General Bisphenol A ELISA, MyBioSource, Inc., San Diego, CA, USA) with a Spectramax M5 Series Multi-Mode Microplate Reader (Molecular Devices, Sunnyvale, CA, USA)...
August 21, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28820733/pubertal-assessment-targeted-educational-intervention-for-pediatric-trainees
#17
Aditi Khokhar, Sairaman Nagarajan, Yagnaram Ravichandran, Sheila Perez-Colon
Background Timely and periodic pubertal assessment in children is vital to identify puberty related disorders. Pediatricians need to have working knowledge of puberty time and tempo. Pediatric residency is an important platform to acquire physical examination skills including pubertal assessment. Objective An educational intervention for teaching pubertal assessment was piloted on pediatric residents at our institution. Methods The intervention comprised of interactive lecture series, ID badge size Tanner stage cards and Tanner posters placed in residents' continuity clinics...
August 18, 2017: International Journal of Adolescent Medicine and Health
https://www.readbyqxmd.com/read/28820420/alterations-in-placenta-redox-status-during-experimental-model-of-hypoxia-induced-preeclampsia
#18
A Sharashenidze, L Panchulidze, T Sanikidze
An important pathogenetic link of preeclampsia (PE) is hypoxia of uterine-placental tissues, accompanied by damage of the vascular endothelium and the release of vasoactive mediators, violate vascular tone and microcirculation in the maternal organism and placenta and development of a number of pathological processes in the mother's and fetus body. The aim of the study was to establish metabolic abnormalities of oxidative metabolism of the placenta during experimental model of PE (uterine/placental hypoxia)...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28777848/-phenotypic-and-genetic-analysis-of-four-patients-with-13q33-q34-microdeletion
#19
Huanhuan Wang, Bing Xiao, Xing Ji, Jingmin Zhang, Ying Cao, Lin Ni, Hui Ye, Lixiao Shen
OBJECTIVE: To explore the correlation between 13q33-q34 microdeletion and clinical phenotype. METHODS: Routine chromosomal banding was performed to analyze the karyotype, while array-based comparative genomic hybridization (aCGH array) and single nucleotide polymorphism array(SNP array) were employed to investigate the genome copy number variations. RESULTS: The karyotype of patient 1 was 46, XY, 9qh+,13qs. Patient 2 showed 46, XX, der (13)...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28746933/androgen-regulates-dimorphic-f-actin-assemblies-in-the-genital-organogenesis
#20
Liqing Liu, Kentaro Suzuki, Eunice Chun, Aki Murashima, Yuki Sato, Naomi Nakagata, Toshihiko Fujimori, Shigenobu Yonemura, Wanzhong He, Gen Yamada
Impaired androgen activity induces defective sexual differentiation of the male reproductive tract, including hypospadias, an abnormal formation of the penile urethra. Androgen signaling in the urethral mesenchyme cells (UMCs) plays essential roles in driving dimorphic urethral development. However, cellular events for sexual differentiation remain virtually unknown. In this study, histological analyses, fluorescent staining, and transmission electron microscopy (TEM) were performed to reveal the cellular dimorphisms of UMCs...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
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