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Genital abnormality

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https://www.readbyqxmd.com/read/28921932/fetal-mri-compared-to-ultrasound-for-the-diagnosis-of-obstructive-genital-malformations
#1
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 an ultrasound 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28744074/multimodality-imaging-of-vaginal-rhabdomyosarcoma
#12
Richa S Chauhan, Dheeraj K Singh, Bishwarup Guha, Ishan Kumar, Ashish Verma
Rhabdomyosarcoma (RMS) is a malignant mesenchymal tumor arising from the embryonal muscle cells (rhabdomyoblasts), and is the most common soft tissue sarcoma in children and young adults accounting for 4-6% of all malignancies in this age group. Though rare overall, embryonal rhabdomyosarcoma is the most common malignancy arising in the pediatric female genitourinary tract with sarcoma botryoides being the most common variant of the tumor. In young and adolescent individuals, the cervix and uterus are affected; whereas in infants, vaginal lesions are more common...
April 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28739302/comparison-of-the-analytical-and-clinical-performance-of-five-tests-for-the-detection-of-human-papillomavirus-genital-infection
#13
M Del Pino, I Alonso, A Rodriguez-Trujillo, S Bernal, D Geraets, N Guimerà, A Torne, J Ordi
HPV-based screening provides greater protection against cervical cancer (CC) than cytology-based strategies. Currently, several molecular diagnostic assays for the detection of human papillomavirus (HPV) are available. In this study, we analyzed 5 different HPV testing and genotyping techniques (Hybrid Capture 2 [HC2; Qiagen, Hilden, Germany], AnyplexTMII HPV28 [Anyplex; Seegene, Seoul, Korea], Linear Array [Roche, Branchburg, NJ, USA], GP5+/6+ PCR-EIA-RH [Labo Bio-medical Products, Rijswijk, The Netherlands] and CLART2 [Genomica, Madrid, Spain]) in 295 women referred to the hospital Colposcopy Clinic from 2007 to 2008 due to positive HPV test results or an abnormal Pap test...
October 2017: Journal of Virological Methods
https://www.readbyqxmd.com/read/28725910/preoperative-quality-of-life-questionnaires-are-an-adequate-tool-to-select-women-with-genital-prolapse-for-laparoscopic-sacrocolpopexy
#14
Enora Laas, Mattieu Haddad, Joël Muhlstein, Sofiane Bendifallah, Marcos Ballester, Emile Darai
INTRODUCTION AND HYPOTHESIS: No clear consensus exists on the selection of patients with pelvic organ prolapse (POP) for surgery. There is a need to preoperatively identify candidates who will benefit from surgery as there is no strict correlation between POP anatomical abnormalities and changes in symptoms and quality of life (QOL) after surgical treatment. Therefore, our objectives were to evaluate the changes in QOL after laparoscopic sacrocolpopexy (LSC) for POP using validated questionnaires and to assess their relevance in selecting women for surgery...
July 19, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28721066/clinical-importance-of-serum-he4-and-mmp2-levels-in-endometrial-cancer-patients
#15
Aneta Cymbaluk-Płoska, Anita Chudecka-Głaz, Ewa Pius-Sadowska, Agnieszka Sompolska-Rzechuła, Bogusław Machaliński, Anna Surowiec, Janusz Menkiszak
INTRODUCTION: Endometrial cancer is the one of the most common cancers of the genital organ. HE4 and MMP2 are both proteins whose serum levels increase in endometrial cancer. AIM: To explore the diagnostic potential of the serum levels of HE4 and MMP2 in patients with endometrial cancer and benign endometrial diseases. To assess the relationship between the serum levels of HE4 and MMP2 and the typical prognostic factors in patients with endometrial cancer. MATERIALS AND METHODS: Included in the study was a group of 112 patients presenting with bleeding abnormalities at the Pomeranian Medical University in years 2012-2016...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28709890/a-novel-collaborative-protocol-for-successful-management-of-penile-pain-mediated-by-radiculitis-of-sacral-spinal-nerve-roots-from-tarlov-cysts
#16
Irwin Goldstein, Barry R Komisaruk, Rachel S Rubin, Sue W Goldstein, Stacy Elliott, Jennifer Kissee, Choll W Kim
INTRODUCTION: Since 14 years of age, the patient had experienced extreme penile pain within seconds of initial sexual arousal through masturbation. Penile pain was so severe that he rarely proceeded to orgasm or ejaculation. After 7 years of undergoing multiple unsuccessful treatments, he was concerned for his long-term mental health and for his future ability to have relationships. AIM: To describe a novel collaboration among specialists in sexual medicine, neurophysiology, and spine surgery that led to successful management...
September 2017: Sexual Medicine
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#17
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28685873/three-cases-of-klinefelter-s-syndrome-with-unilateral-absence-of-vas-deferens
#18
E C Akinsal, N Baydilli, H Imamoglu, O Ekmekcioglu
Genital abnormalities such as congenital uni/bilateral absence of the vas deferens are very rare in Klinefelter's syndrome. Here, we report three cases of Klinefelter's syndrome with unilateral absence of the vas deferens. All cases had small testicles, and unilateral vas deferentia were not palpable. Hormonal evaluations revealed hypergonadotropism. One case had elevated prolactin level, and pituitary adenoma was detected by magnetic resonance imaging. All cases were diagnosed as Klinefelter's syndrome (one of them had mosaicism) cytogenetically, and some CFTR gene mutations were detected...
July 7, 2017: Andrologia
https://www.readbyqxmd.com/read/28685798/cyto-colpo-histologic-correlation-about-an-analytical-study-of-120-colposcopies
#19
Olfa Slimani, Riadh Ben Temim, Tahar Makhlouf, Nabil Mathlouthi, Leila Attia
PROBLEM: Cervical cancer is the second gynecological cancer Tunisian women after breast. This is a sexually transmitted disease including the role of HPV has been proven. Cervical cancer screening is possible due to the accessibility of the cervix with a speculum examination and implementation of cervical smear. AIM OF THE WORK: To study the epidemiological and clinical data of patients, analyze the results of the Pap test, colposcopy and cervical biopsy staging are the lesions observed in colposcopy, compare the results of smears, colposcopy and cervical biopsy...
October 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28684328/genetics-of-gynaecological-disorders
#20
REVIEW
Dragana J Josifova
From genomic imbalances associated with developmental abnormalities of the female genital tract to the molecular mechanisms underpinning endometriosis and uterine leiomyomatosis, new technologies have allowed the exploration of the genetic contribution and mapping the molecular pathways underpinning common and rare gynaecological conditions. While some of these conditions have historically been considered sporadic, recent research has demonstrated their potentially heritable nature linked to single genes or copy number variants...
July 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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