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https://www.readbyqxmd.com/read/28746933/androgen-regulates-dimorphic-f-actin-assemblies-in-the-genital-organogenesis
#1
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...
July 27, 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
#2
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
#3
M Del Pino, I Alonso, A 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...
July 21, 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
#4
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
#5
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
#6
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...
July 12, 2017: Sexual Medicine
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28681204/association-of-asymptomatic-bacterial-vaginosis-with-persistence-of-female-genital-human-papillomavirus-infection
#11
K Kero, J Rautava, K Syrjänen, S Grenman, S Syrjänen
More data are needed on the role of abnormal vaginal microbiota in the natural history of cervical human papillomavirus (HPV) infections. Our purpose was to study the prevalence of mixed flora (MF), bacterial vaginosis (BV) and yeast infection in women with known HPV outcomes during the 72-month follow-up (FU). Asymptomatic pregnant women (N = 329) were enrolled in the third trimester of their pregnancy. Pap smears and HPV genotyping samples were taken at baseline and at 12-, 24-, 36- and 72-month FU visits, with one additional sample at 2 months for HPV...
July 5, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28666494/quadro-cornuate-uterus
#12
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/28663791/human-papillomavirus-vaccination-the-population-impact
#13
REVIEW
Lai-Yang Lee, Suzanne M Garland
We currently have the knowledge and experience to prevent much of human papillomavirus (HPV)-related disease burden globally. In many countries where prophylactic HPV vaccination programs have been adopted as highly effective public health programs with good vaccine coverage, we are already seeing, in real-world settings, reduction of vaccine-related HPV-type infections, genital warts and cervical pre-cancers with potential reductions in vulvar, vaginal and anal pre-cancers. Moreover, we are seeing a change in cervical screening paradigms, as HPV-based screening programs now have strong evidence to support their use as more sensitive ways to detect underlying cervical abnormalities, as compared with conventional cervical cytology...
2017: F1000Research
https://www.readbyqxmd.com/read/28647574/a-rare-uterine-malformation-asymmetric-septate-uterus
#14
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 a 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 21, 2017: Journal of Minimally Invasive Gynecology
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#15
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28632892/maternal-overweight-and-obesity-and-genital-anomalies-in-male-offspring-a-population-based-swedish-cohort-study
#16
Linn Håkonsen Arendt, Cecilia Høst Ramlau-Hansen, Morten Søndergaard Lindhard, Tine Brink Henriksen, Jørn Olsen, Yongfu Yu, Sven Cnattingius
BACKGROUND: Overweight and obese pregnant women face higher risk of several critical birth outcomes, including an overall increased risk of congenital abnormalities. Only few studies have focused on associations between maternal overweight and the genital anomalies in boys, cryptorchidism and hypospadias, and results are inconclusive. METHODS: We performed a population-based cohort study and assessed the associations between maternal body mass index (BMI) in early pregnancy and occurrence of cryptorchidism and hypospadias...
June 20, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28631704/-beh%C3%A3-et-s-disease-intracardiac-thrombosis-a-description-of-two-cases-and-a-review-of-literature
#17
Z S Alekberova, P S Ovcharov, T A Lisitsyna, A V Volkov, T V Popkova
Behçet's disease (BD) is systemic vasculitis of unknown etiology, which is more common in the countries located along the Great Silk Road. The disease is diagnosed if a patient has 4 key diagnostic signs: aphthous stomatitis, genital sores, and eye and skin lesions. Vascular diseases referred to as minor criteria for BD are characterized by the formation of aneurysms and thrombosis, predominantly in the venous bed. In venous disorders, a blood clot can form in any vessel, including caval, cerebral, pulmonary, and other veins...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28630018/the-modified-ulaanbaatar-procedure-reduced-complications-and-enhanced-cosmetic-outcome-for-the-most-severe-cases-of-hypospadias
#18
V R Jayanthi, C B Ching, D G DaJusta, D J McLeod, S A Alpert
INTRODUCTION/OBJECTIVE: Proximal hypospadias is one of the most challenging conditions that pediatric urologists have to deal with. Many procedures have been devised over the years, but nothing has been proven to be the best option. Although there have been some attempts at correcting severe hypospadias in one procedure, most have advocated a staged approach. The classic approach - laying penile skin or a graft within a split glans followed by glanuloplasty at the second stage - by definition requires two operations on the glans...
May 18, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28625744/the-anterior-sagittal-transrectal-approach-astra-for-cases-associated-with-rectal-implantation-of-the-urethra-a-retrospective-review-of-six-cases
#19
A Macedo, M I S Silva, J A Pompermaier, S L Ottoni, R de Castro, M Leal da Cruz
INTRODUCTION: Severe genital abnormalities such as urogenital sinus and urethral duplication with ectopic urethra in the rectum represent a major challenge in reconstructive urology. OBJECTIVE: We aimed to review our cases presenting with functional ectopic urethra implanted in the rectum that were treated through an ASTRA approach. METHODS: We reviewed the medical records of all patients who had undergone an ASTRA approach from 2005-2016...
May 17, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#20
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
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