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Genitourinary syndrome

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https://www.readbyqxmd.com/read/29465581/atypical-microdeletion-in-22q11-deletion-syndrome-reveals-new-candidate-causative-genes-a-case-report-and-literature-review
#1
Huiping Shi, Zhaoyue Wang
RATIONALE: 22q11 deletion syndrome, the most common chromosomal microdeletion disease, is caused by megabase-sized deletions on chromosome 22q11.2. It is characterized by a wide spectrum of congenital anomalies in velopharyngeal and facial, cardiac, genitourinary, vertebroskeletal, respiratory, digestive, and central nervous systems. Phenotype-genotype studies have revealed several causative genes that regulate the development of the third and fourth pharyngeal arches in human. However, the exact pathogenesis of this syndrome remains unknown...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29452831/painless-urethral-bleeding-during-penile-erection-in-an-adult-man-with-klippel-trenaunay-syndrome-a-case-report
#2
Hongen Lei, Xing Guan, Hu Han, Xiaosong Qian, Xiaoguang Zhou, Xiaodong Zhang, Long Tian
INTRODUCTION: Klippel-Trenaunay syndrome (KTS) is a rare congenital vascular disorder characterized by a triad of cutaneous port wine capillary malformations, varicose veins, and hemihypertrophy of bone and soft tissues. AIMS: To report on a rare case of KTS in an adult man manifested by painless urethral bleeding during penile erection briefly review the clinical presentation and management of the genitourinary forms of this syndrome. METHODS: On presentation, the clinical features of this patient, including medical history, signs and symptoms, and imaging examinations, were recorded...
February 13, 2018: Sexual Medicine
https://www.readbyqxmd.com/read/29436235/long-term-effects-of-vaginal-erbium-laser-in-the-treatment-of-genitourinary-syndrome-of-menopause
#3
M Gambacciani, M Levancini, E Russo, L Vacca, T Simoncini, M Cervigni
OBJECTIVES: To evaluate the long-term efficacy of a second generation of vaginal laser treatment, the vaginal erbium laser, as a non-ablative photothermal therapy for the management of genitourinary syndrome of menopause. METHODS: The study was performed using an erbium laser crystal yttrium-aluminum-garnet (XS Fotona Smooth™, Fotona, Ljubljana, Slovenia) with a wavelength of 2940 nm. Postmenopausal women (n = 205) were treated with three laser applications at 30-day intervals...
February 13, 2018: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/29434541/the-influence-of-early-life-experience-on-visceral-pain
#4
REVIEW
Isabella M Fuentes, Julie A Christianson
Pain is the most reported and troublesome symptom of nearly all functional disorders affecting the genitourinary and gastrointestinal organs. Patients with irritable bowel syndrome (IBS), interstitial cystitis/painful bladder syndrome (IC/PBS), vulvodynia, and/or chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS; collectively termed chronic pelvic pain syndromes) report pain severe enough to impact quality of life and often suffer from symptoms of or are diagnosed with more than one of these syndromes...
2018: Frontiers in Systems Neuroscience
https://www.readbyqxmd.com/read/29419532/management-of-menopausal-symptoms-for-women-who-are-at-high-risk-of-thrombosis
#5
Joann V Pinkerton, Andra H James
For women at elevated risk of thrombosis, clinicians are challenged to relieve menopausal symptoms without increasing the risk of thrombosis. Oral menopausal hormone therapy increases the risk of venous thromboembolism by 2-fold to 3-fold. Observational studies suggest less thrombotic risk with transdermal therapies and with progesterone over synthetic progestogens (progestins), but the data are limited. Beneficial nonpharmacologic therapies include cognitive behavioral therapy and clinical hypnosis, whereas beneficial nonhormonal pharmacologic therapies include selective serotonin reuptake inhibitors and serotonin-norepinephrine reuptake inhibitors...
February 6, 2018: Clinical Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29411644/genitourinary-syndrome-of-menopause-prevalence-and-quality-of-life-in-spanish-postmenopausal-women-the-genisse-study
#6
E Moral, J L Delgado, F Carmona, B Caballero, C Guillán, P M González, J Suárez-Almarza, S Velasco-Ortega, C Nieto
OBJECTIVE: To determine the prevalence of genitourinary syndrome of menopause (GSM) and urogynecological conditions associated with menopause, and to evaluate the impact of GSM on quality of life in a cohort of Spanish postmenopausal women. METHODS: Multicenter, cross-sectional, and observational study involving 430 women. RESULTS: The prevalence of GSM was 70%. GSM was diagnosed in 60.2% of women with no known diagnosis of vulvovaginal atrophy or GSM...
February 7, 2018: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/29406425/vulvar-and-vaginal-fractional-co2-laser-treatments-for-genitourinary-syndrome-of-menopause
#7
Lauren F Streicher
Many healthcare providers are offering women treatment with the fractionated CO2 laser for a myriad of gynecologic issues, including genitourinary syndrome of menopause (GSM). Because existing data are limited, providing guidance is challenging. This Practice Pearl addresses what we know and don't know about the use of the fractionated CO2 laser for the treatment of GSM.
February 5, 2018: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/29402732/female-sexual-dysfunction-a-systematic-review-of-outcomes-across-various-treatment-modalities
#8
REVIEW
James M Weinberger, Justin Houman, Ashley T Caron, Jennifer Anger
BACKGROUND: Female sexual dysfunction (FSD) is a highly prevalent condition. Nevertheless, the scientific literature has only recently begun to accumulate evidence for treatment modalities that address the underlying etiologies of FSD. AIM: The purpose of this systematic review is to elucidate what treatments are effective across the various symptom complexes of FSD. METHODS: Utilizing Meta-analysis of Observational Studies in Epidemiology guidelines, we conducted a systematic review of PubMed, EMBASE, clinicaltrials...
February 3, 2018: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/29383834/nonsense-mutations-in-fzd2-cause-autosomal-dominant-omodysplasia-robinow-syndrome-like-phenotypes
#9
Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi, Hiromi Nyuzuki, Sunao Sasaki, Yohei Ogawa, Akihiko Saitoh
Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid nasal tip, and long philtrum), and variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that of AD type Robinow syndrome. Recently, a mutation in FZD2 encoding a Frizzled Class Receptor 2 has been identified in a family with AD omodysplasia (an affected girl and her affected mother)...
January 31, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29381086/treatment-of-vaginal-atrophy-with-estriol-and-lactobacilli-combination-a-clinical-review
#10
A O Mueck, X Ruan, V Prasauskas, P Grob, O Ortmann
In recent years, a vast quantity of clinical data has been accumulated on the pathophysiology of symptomatic vulvovaginal atrophy (VVA)/genitourinary syndrome of menopause (GSM) in peri- and postmenopausal women and on the treatment options for these conditions. Guidelines from several societies have recently been updated in favor of VVA/GSM vaginal therapy with the lowest possible doses of estrogens. The combination of a vaginal ultra-low dose of 0.03 mg of estriol (E3) and lyophilized, viable Lactobacillus acidophilus KS400 (0...
January 30, 2018: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/29371146/couplepause-a-new-paradigm-in-treating-sexual-dysfunction-during-menopause-and-andropause
#11
REVIEW
Emmanuele A Jannini, Rossella E Nappi
BACKGROUND: At midlife and beyond, both men and women face organic changes that can affect sexual functioning. For women, ovarian exhaustion causes estrogen deficiency, leading to genitourinary syndrome of menopause, which may include vaginal dryness, irritation/itching, inadequate lubrication, and dyspareunia. Hypoactive sexual desire disorder also can result from biopsychosocial factors. For men, erectile dysfunction prevalence increases with age, and some men develop testosterone deficiency...
January 19, 2018: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/29367168/does-vaginal-estriol-make-urodynamic-changes-in-women-with-overactive-bladder-syndrome-and-genitourinary-syndrome-of-menopause
#12
Maria Grazia Matarazzo, Salvatore Caruso, Giuliana Giunta, Gaetano Valenti, Giuseppe Sarpietro, Antonio Cianci
OBJECTIVES: OAB is a common finding in postmenopausal women. Hypoestrogenism is the root cause of many signs and symptoms of Genitourinary Syndrome of Menopause (vaginal dryness, atrophy, dyspareunia, urinary disorders, etc.). As such the aim of this study was to evaluate the urodynamic effects of ultralowdose estriol vaginal gel formulation to treat women with Genitourinary Syndrome of Menopause and Overactive Bladder Syndrome. STUDY DESIGN: This open-labeled, single center, prospective study involved 37 women with OAB recruited in our Urogynecological Unit between January and July 2016...
January 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29364367/new-therapeutic-option-in-genitourinary-syndrome-of-menopause-pilot-study-using-microablative-fractional-radiofrequency
#13
Márcia Farina Kamilos, Celso Luiz Borrelli
OBJECTIVE: To evaluate the clinical response of patients with symptoms of genitourinary syndrome of menopause after application of microablative fractional radiofrequency in the vagina and vaginal introitus. METHODS: Fourteen patients with symptoms of genitourinary syndrome of menopause underwent three applications of microablative fractional radiofrequency with a 30-day interval, using the Wavetronic 6000HF-FRAXX device and a fractional vaginal electrode. The questionnaires World Health Organization Quality of Life (for quality of life evaluation), Female Sexual Function Index and Quality of Life Adapted Questionnaire in the Domain of Sexual Satisfaction (for sexual function and satisfaction evaluation) were administered before and after the applications (30 to 60 days after the last procedure), in addition to the satisfaction questionnaire after procedure...
October 2017: Einstein
https://www.readbyqxmd.com/read/29363110/women-s-sexual-health-and-aging
#14
Lisa Granville, Janet Pregler
Older women are often sexually active, but physicians caring for older women rarely address sexual concerns. Although women's desire for sex declines with age, a majority of older women rate sex as having importance in their lives. Women identify emotional intimacy as an important reason for engaging in sexual relationships. Women are less likely than men to have an available spousal or intimate partner and more likely to have a partner with sexual difficulties of their own. Up to half of sexually active older women report a distressing sexual problem, with low desire and problems related to genitourinary syndrome (vulvovaginal atrophy) being most common...
January 24, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#15
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29343077/delayed-onset-of-sleep-in-adolescents-with-pax6-haploinsufficiency
#16
Alyson E Hanish, Joan C Han
OBJECTIVE: PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome. Given the role of PAX6 in pineal development and circadian regulation, adolescents with PAX6+/- may experience sleep-wake disturbances. The purpose of this observational study was to explore sleep-related phenotypes in adolescents with PAX6+/-...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29290212/the-sexual-health-approach-in-postmenopause-the-five-minutes-study
#17
Marcos J Cuerva, Daniel Gonzalez, Marta Canals, Borja Otero, Jose Angel Espinosa, Francisca Molero, Levent M Senturk, Nicolas Mendoza
OBJECTIVES: To determine whether actively addressing sexuality in a gynaecological consultation with menopausal patients improves the diagnosis of sexual problems. STUDY DESIGN: A multi-centre analytical cross-sectional study was conducted at 12 Spanish hospitals. In gynaecological consultations the usual medical histories were taken, except that, initially, issues relating to sexuality were omitted, unless the patients raised them. Then, after 5min, gynaecologists offered the possibility of talking about sexuality and asked about possible sexual problems...
February 2018: Maturitas
https://www.readbyqxmd.com/read/29284359/rare-incidence-of-tumor-lysis-syndrome-in-metastatic-prostate-cancer-following-treatment-with-docetaxel
#18
Sharonlin Bhardwaj, Seema Varma
Tumor lysis syndrome is a serious and sometimes lethal complication of cancer treatment that is comprised of a set of metabolic disturbances along with clinical manifestations. Initiating chemotherapy in bulky, rapidly proliferating tumors causes rapid cell turnover that in turn releases metabolites into circulation that give rise to metabolic derangements that can be dangerous. This syndrome is usually seen in high-grade hematological malignancies. Less commonly, tumor lysis syndrome can present in solid tumors and even rarely in genitourinary tumors...
January 1, 2017: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29278234/diagnostic-and-treatment-guidelines-for-gastrointestinal-and-genitourinary-endometriosis
#19
Stacy Young, Megan Kennedy Burns, Lucia DiFrancesco, Azadeh Nezhat, Camran Nezhat
Endometriosis is commonly misdiagnosed, even among many experienced gynecologists. Gastrointestinal and genitourinary endometriosis is particularly difficult to diagnose, and is commonly mistaken for other pathologies, such as irritable bowel syndrome, interstitial cystitis, and even psychological disturbances. This leads to delays in diagnosis, mismanagement, and unnecessary testing. In this review, we will discuss the diagnosis and management of genitourinary and gastrointestinal endometriosis. Medical management may be tried first, but often fails in cases of urinary tract endometriosis...
December 15, 2017: Journal of the Turkish German Gynecological Association
https://www.readbyqxmd.com/read/29242658/quadratus-lumborum-block-for-post-operative-pain-relief-in-patient-with-prune-belly-syndrome
#20
Chitra Garg, Sangeeta Khanna, Yatin Mehta
Abdominal field blocks are commonly used as part of multimodal analgesia for post-operative pain relief in patients undergoing abdominal surgery. Conventionally, transversus abdominis plane block is used, but has the disadvantage of limited spread only to T10-T12 segments, providing only partial pain relief. The new quadratus lumborum (QL) block has the advantage of providing wider sensory block from T6 to L1 and thus has an evolving role in opioid-free anaesthesia. Opioid-induced cough depression, urinary retention, and drowsiness can be problematic in patients with Prune belly syndrome, who have deficient abdominal muscles and myriad of genitourinary problems...
October 2017: Indian Journal of Anaesthesia
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