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Genitourinary syndrome

Molla Taye, Mekbeb Afework, Wondwossen Fantaye, Ermias Diro, Alemayehu Worku
BACKGROUND: Birth defects are defined as structural and functional defects that develop during the organogenesis period and present at birth or detected later in life. They are one of the leading causes of infant and child mortality, morbidity, and long term disability. The magnitude of birth defects varies from country to country and from race/ethnicity to race/ethnicity, and about 40-60% of their causes are unknown. The known causes of birth defects are genetic and environmental factors which may be prevented...
2016: PloS One
Amine Slaoui, Souhail Regragui, Abdelouahad Lasri, Tarik Karmouni, Khalid El Khader, Abdellatif Koutani, Ahmed Ibn Attya
BACKGROUND: Congenital malformations of the seminal vesicle are uncommon, and most of them are cystic malformations. If an insult occurs between the 4th and the 13 h gestational week, the embryogenesis of the kidney, ureter, seminal vesicle, and vas deferens could be altered. Cysts of the seminal vesicle may appear with a mass effect, dysuria, epididymitis, or obstruction of the gastrointestinal and genitourinary tracts. Approximately two thirds of them are associated with ipsilateral renal agenesis, because both the ureteral buds and seminal vesicles originate from the mesonephric (Wolffian) duct...
2016: Basic and Clinical Andrology
Emir Tas, Jessica Sebastian, Suneeta Madan-Khetarpal, Philip Sweet, Alexander N Yatsenko, Nijole Pollock, Aleksandar Rajkovic, Francis X Schneck, Svetlana A Yatsenko, Selma Feldman Witchel
Hand-Foot-Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss-of-function mutations in the HOXA13 gene. HOXA13 plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589 kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies...
September 20, 2016: American Journal of Medical Genetics. Part A
Kristen Wigby, Cheryl D'Epagnier, Susan Howell, Amy Reicks, Rebecca Wilson, Lisa Cordeiro, Nicole Tartaglia
Triple X syndrome (47, XXX) occurs in approximately 1:1,000 female births and has a variable phenotype of physical and psychological features. Prenatal diagnosis rates of 47, XXX are increasing due to non-invasive prenatal genetic testing. Previous studies suggest that prenatal diagnosed females have better neurodevelopmental outcomes. This cross-sectional study describes diagnosis, physical features, medical problems, and neurodevelopmental features in a large cohort of females with 47, XXX. Evaluation included review of medical and developmental history, physical exam, cognitive, and adaptive testing...
November 2016: American Journal of Medical Genetics. Part A
Laura M Thornton, Hunna J Watson, Andreas Jangmo, Elisabeth Welch, Camilla Wiklund, Yvonne von Hausswolff-Juhlin, Claes Norring, Barry K Herman, Henrik Larsson, Cynthia M Bulik
OBJECTIVE: To evaluate associations between binge-eating disorder (BED) and somatic illnesses and determine whether medical comorbidities are more common in individuals who present with BED and comorbid obesity. METHOD: Cases (n = 850) were individuals with a BED diagnosis in the Swedish eating disorders quality registers. Ten community controls were matched to each case on sex, and year, month, and county of birth. Associations of BED status with neurologic, immune, respiratory, gastrointestinal, skin, musculoskeletal, genitourinary, circulatory, and endocrine system diseases were evaluated using conditional logistic regression models...
September 19, 2016: International Journal of Eating Disorders
T M Yates, C L S Turner, H V Firth, J Berg, D T Pilz
Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) [BRWS; MIM #243310, 614583] is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations...
September 13, 2016: Clinical Genetics
Raul S Gonzalez, Nicole D Riddle
Certain tumors suggest the possibility of a patient harboring a genetic syndrome, particularly in children. Syndrome-associated tumors of the gastrointestinal tract, genitourinary tract, gynecologic tract, heart, lungs, brain, eye, endocrine organs, and hematopoietic system will be briefly discussed.
June 2016: Journal of Pediatric Genetics
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G Wilson, Xiaodong Cheng
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood...
September 4, 2016: Nucleic Acids Research
S Athanasiou, E Pitsouni, S Antonopoulou, D Zacharakis, S Salvatore, M E Falagas, T Grigoriadis
OBJECTIVES: To assess the effect of microablative fractional CO2 laser (MFCO2-Laser) therapy on the vaginal microenvironment of postmenopausal women. METHODS: Three laser therapies at monthly intervals were applied in postmenopausal women with moderate to severe symptoms of genitourinary syndrome of menopause, pH of vaginal fluid >4.5 and superficial epithelial cells on vaginal smear <5%. Vaginal fluid pH values, fresh wet mount microscopy, Gram stain and aerobic and anaerobic cultures were evaluated at baseline and 1 month after each subsequent therapy...
October 2016: Climacteric: the Journal of the International Menopause Society
Adrian Gaspar, Hugo Brandi, Valentin Gomez, Daniel Luque
OBJECTIVES: The objective of this prospective comparative cohort study was to establish the effectiveness and safety of Erbium:YAG (Er:YAG) laser treatment for genitourinary syndrome of menopause and to compare it with an established topical estriol treatment. METHODS: Fifty patients with genitourinary syndrome of menopause were divided into two groups. The estriol group received a treatment of 0.5 mg estriol ovules for 8 weeks and the laser group was first treated for 2 weeks with 0...
August 22, 2016: Lasers in Surgery and Medicine
Cheryl B Iglesia
PURPOSE OF REVIEW: The purpose of this review is to describe new terminology for vulvovaginal atrophy and female sexual dysfunction and to highlight recent findings related to vaginal moisturizers, lubricants and prescription estrogen preparations. RECENT FINDINGS: Sexual health is a marker for overall health. A minority (40%) of healthcare providers routinely ask about sexual problems and its impact on quality of life. New terminology by the American Psychiatric Association divides female sexual disorders into three categories: arousal/interest disorder, orgasmic disorder and genital pain and penetration disorder...
October 2016: Current Opinion in Obstetrics & Gynecology
André F Carvalho, Manu S Sharma, André R Brunoni, Eduard Vieta, Giovanni A Fava
Newer generation antidepressant drugs (ADs) are widely used as the first line of treatment for major depressive disorders and are considered to be safer than tricyclic agents. In this critical review, we evaluated the literature on adverse events, tolerability and safety of selective serotonin reuptake inhibitors, serotonin noradrenaline reuptake inhibitors, bupropion, mirtazapine, trazodone, agomelatine, vilazodone, levomilnacipran and vortioxetine. Several side effects are transient and may disappear after a few weeks following treatment initiation, but potentially serious adverse events may persist or ensue later...
2016: Psychotherapy and Psychosomatics
Chiara Bondi, Simone Ferrero, Carolina Scala, Emanuela Tafi, Annalisa Racca, Pier Luigi Venturini, Umberto Leone Roberti Maggiore
INTRODUCTION: Ospemifene is a selective estrogen receptor modulator recently approved by the FDA for the treatment postmenopausal women experiencing moderate-to-severe dyspareunia and by the EMA for the treatment of moderate-to-severe symptomatic genitourinary syndrome of menopause (GSM) in women who are not suitable candidates for local vaginal estrogen therapy. AREAS COVERED: This review offers an explanation of the pharmacodynamics and of the pharmacokinetics of ospemifene, and gives readers a complete overview of Phase II and III studies on the clinical efficacy, tolerability and safety of this agent in the setting of GSM...
October 2016: Expert Opinion on Drug Metabolism & Toxicology
Jason Gandhi, Andrew Chen, Gautam Dagur, Yiji Suh, Noel Smith, Brianna Cali, Sardar Ali Khan
Genitourinary syndrome of menopause (GSM) is a hypoestrogenic condition with external genital, urological, and sexual implications that affects over 50% of postmenopausal women. Due to sexual embarrassment and the sensitive nature of discussing symptoms, GSM is greatly underdiagnosed. The current literature pertaining to clinical manifestations, etiology, pathogenesis, evaluation, and management of GSM is reviewed. Early detection and appropriate pharmacologic or nonpharmacologic treatment is paramount for not only improving quality of life but also for preventing exacerbation of symptoms in women suffering from GSM...
July 26, 2016: American Journal of Obstetrics and Gynecology
David H Martin, Jeanne M Marrazzo
This article summarizes the highlights of the expert technical consultation on bacterial vaginosis (BV), sponsored by the National Institute of Allergy and Infectious Disease and held in Washington, DC, on 8-9 April 2015. Many issues touched on in this article are discussed in much greater detail in the 6 preceding articles in this supplement to The Journal of Infectious Diseases There was a consensus among the meeting attendees concerning the most important research issues in the field: the pathogenesis of the syndrome, way to optimize treatment, and the relative roles of sexual transmission and endogenous infection in BV epidemiology...
August 15, 2016: Journal of Infectious Diseases
Agnieszka Szmigielska, Grażyna Krzemień, Maria Roszkowska-Blaim, Ewa Obersztyn
UNLABELLED: The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of obesity. We present the case of a boy with pathological obesity and Bardet-Biedl syndrome (BBS). BBS is a ciliopathy, a heterogeneous group of rare disorders associated with defects in primary cilia...
April 2016: Developmental Period Medicine
Eve Miller-Hodges
For more than 30 years, WT1 mutations have been associated with complex developmental syndromes involving the kidney. Acting as a transcription factor, WT1 is expressed throughout the nephron and controls the reciprocal interactions and phenotypic changes required for normal renal development. In the adult, WT1 expression remains extremely high in the renal podocyte, and at a lower level in the parietal epithelial cells. Wt1-null mice are unable to form kidneys [1]. Unsurprisingly, WT1 mutations lead to significant abnormalities of the renal and genitourinary tract, causing a number of human diseases including syndromes such as Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome...
2016: Methods in Molecular Biology
Eric R Sokol, Mickey M Karram
OBJECTIVES: The aim of the study was to assess the safety and efficacy of a novel fractional CO2 laser for the treatment of genitourinary syndrome of menopause (GSM). METHODS: Women presenting with GSM and meeting study criteria were enrolled. Examinations at baseline and follow-up (3 mo after final treatment) evaluated dilator tolerance and vaginal pH. Visual analog scales were used to assess pain, vaginal burning, vaginal itching, vaginal dryness, dyspareunia, and dysuria; Vaginal Health Index scores were completed before each treatment and at follow-up; Female Sexual Function Index and Short Form 12 questionnaires were also completed...
October 2016: Menopause: the Journal of the North American Menopause Society
JoAnn V Pinkerton, Andrew G Bushmakin, Lucy Abraham, Joseph C Cappelleri, Barry S Komm
OBJECTIVE: Conjugated estrogens/bazedoxifene (CE/BZA) is indicated to treat moderate/severe menopausal vasomotor symptoms and prevent postmenopausal osteoporosis. This analysis examines the impact of the most bothersome vaginal symptom at baseline on effects of CE/BZA. METHODS: This post hoc analysis used data from a 12-week clinical trial of nonhysterectomized postmenopausal women (n = 664) randomly assigned to double-blind treatment with CE/BZA (0.45/20 mg and 0...
October 2016: Menopause: the Journal of the North American Menopause Society
Oliver K Glass, Sundhar Ramalingam, Michael R Harrison
The use of targeted therapies in patients with genitourinary malignancies has significantly improved outcomes. For example, androgen receptor (AR) pathway inhibitors have improved outcomes for patients with prostate cancer, and antiangiogenic agents have improved outcomes for those with kidney cancer. However, these advances have been accompanied by musculoskeletal side effects that manifest as physical dysfunction. Although the effects of androgen deprivation therapy on skeletal muscle are well-known, an additional concern is that the muscle loss associated with these newer drugs-especially AR pathway inhibitors-may result in insulin resistance and metabolic syndrome, thus increasing the risk for cardiovascular events and diabetes...
June 2016: Clinical Advances in Hematology & Oncology: H&O
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