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Genitourinary syndrome

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https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#1
Nadia Skauli, Sean Wallace, Samuel C C Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27882234/dysgerminoma-developing-from-an-ectopic-ovary-in-a-patient-with-wagr-syndrome-a-case-report
#2
Rie Miura, Yoshihito Yokoyama, Tatsuhiko Shigeto, Masayuki Futagami, Hideki Mizunuma, Akira Kurose, Kazushi Tsuruga, Shinya Sasaki, Kiminori Terui, Etsuro Ito
WAGR syndrome is caused by an 11p13 deletion and includes Wilms' tumor, aniridia, genitourinary anomalies and mental retardation. We encountered a case of a dysgerminoma originating in an ectopic ovary in a woman with WAGR syndrome. Our patient was a 24-year-old nulliparous woman who was diagnosed with WAGR syndrome. The patient had undergone left nephrectomy for a Wilms' tumor and postoperative chemotherapy at the age of 7 months. She also had a history of glaucoma surgery in both eyes, and was followed up at the Department of Pediatrics for diabetes mellitus, hypertension, liver dysfunction and hyperuricemia...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27876429/can-polyacrylic-acid-treat-sexual-dysfunction-in-women-with-breast-cancer-receiving-tamoxifen
#3
P T Juliato, A T Rodrigues, R Stahlschmidt, C R T Juliato, P G Mazzola
OBJECTIVE: There is a lack of safety data supporting the use of hormone therapy in women who have had breast cancer and who have complained of genitourinary syndrome of menopause (GSM). The objective was to test the efficacy of two non-hormonal therapies for vaginal dryness. METHODS: This was a randomized trial with 52 women with breast cancer who were being treated with tamoxifen and who complained of vaginal dryness. The volunteers answered two questionnaires to evaluate sexual function (Female Sexual Function Index, FSFI) and a customized GSM questionnaire...
November 23, 2016: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/27864031/fractional-co2-laser-treatment-of-the-vestibule-for-patients-with-vestibulodynia-and-genitourinary-syndrome-of-menopause-a-pilot-study
#4
Filippo Murina, Mickey Karram, Stefano Salvatore, Raffaele Felice
INTRODUCTION: Chronic vulvar pain and burning remains one of the most perplexing problems faced by practicing gynecologists. AIM: To evaluate the effectiveness and safety of the application of micro-ablative fractional CO2 laser to the vulvar vestibule in the management of patients with vulvar pain from vestibulodynia or genitourinary syndrome of menopause. METHODS: Patients (N = 70) underwent fractional micro-ablative CO2 laser treatment for vestibular pain plus vestibulodynia (n = 37) or genitourinary syndrome of menopause (n = 33)...
December 2016: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/27832265/prevalence-of-semicircular-canal-hypoplasia-in-patients-with-charge-syndrome-3c-syndrome
#5
Andre Wineland, Maithilee D Menezes, Joshua S Shimony, Marwan S Shinawi, Timothy E Hullar, Keiko Hirose
Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. Objective: To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition...
November 10, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27823733/microablative-fractional-co2-laser-therapy-and-the-genitourinary-syndrome-of-menopause-an-observational-study
#6
Eleni Pitsouni, Themos Grigoriadis, Angeliki Tsiveleka, Dimitris Zacharakis, Stefano Salvatore, Stavros Athanasiou
OBJECTIVES: This study aimed to assess the effect of the Microablative Fractional CO2 Laser (CO2-laser) therapy on vaginal pathophysiology and the symptoms of the Genitourinary Syndrome of Menopause (GSM). METHODS: Postmenopausal women with moderate to severe symptoms of GSM underwent three sessions of CO2-laser therapy at monthly intervals. Participants were evaluated at baseline and 4 weeks after the last treatment. MAIN OUTCOME MEASURES: The primary outcomes were Vaginal Maturation Value (VMV) and Vaginal Health Index Score (VHIS)...
December 2016: Maturitas
https://www.readbyqxmd.com/read/27819754/urological-cancer-related-to-familial-syndromes
#7
Walter Henriques da Costa, George Jabboure, Isabela Werneck da Cunha
Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC), succinate de¬hydrogenase kidney cancer (SDH-RCC), and more recently BAP1 germline mutation re¬lated RCC...
November 2, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27801954/the-who-2016-classification-of-testicular-non-germ-cell-tumours-a-review-and-update-from-the-international-society-of-urological-pathology-testis-consultation-panel
#8
REVIEW
Muhammad T Idrees, Thomas M Ulbright, Esther Oliva, Robert H Young, Rodolfo Montironi, Lars Egevad, Daniel Berney, John R Srigley, Jonathan I Epstein, Satish K Tickoo
The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of the germ cell tumours; however, several modifications were also initiated for the non-germ cell tumours...
November 1, 2016: Histopathology
https://www.readbyqxmd.com/read/27799571/evaluation-of-sacroiliac-joint-mri-for-pelvic-venous-congestion-signs-in-women-clinically-suspected-of-sacroiliitis
#9
Canan Cimsit, Tevfik Yoldemir, Derya Tureli, Mustafa Erkin Aribal
BACKGROUND: Pelvic congestion syndrome (PCS) is a commonly overlooked condition which is a potential cause of chronic pelvic pain. Magnetic resonance imaging (MRI) of the sacroiliac joint (SIJ) may demonstrate unexpected conditions that can mimic sacroiliitis (SI). Awareness of MRI-defined pelvic venous congestion (PVC) may help in identifying PCS, where vascular abnormality may be the sole manifestation of SIJ pain. PURPOSE: To detect incidental MRI-defined PVC in patients who underwent SIJ-MRI for presumed SI and define the variance of its incidence...
October 31, 2016: Acta Radiologica
https://www.readbyqxmd.com/read/27706169/magnitude-of-birth-defects-in-central-and-northwest-ethiopia-from-2010-2014-a-descriptive-retrospective-study
#10
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
https://www.readbyqxmd.com/read/27672439/zinner-s-syndrome-report-of-two-cases-and-review-of-the-literature
#11
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
https://www.readbyqxmd.com/read/27649277/familial-deletion-of-the-hoxa-gene-cluster-associated-with-hand-foot-genital-syndrome-and-phenotypic-variability
#12
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
https://www.readbyqxmd.com/read/27644018/expanding-the-phenotype-of-triple-x-syndrome-a-comparison-of-prenatal-versus-postnatal-diagnosis
#13
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
https://www.readbyqxmd.com/read/27642179/binge-eating-disorder-in-the-swedish-national-registers-somatic-comorbidity
#14
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
https://www.readbyqxmd.com/read/27625340/baraitser-winter-cerebrofrontofacial-syndrome
#15
REVIEW
T M Yates, C L 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
https://www.readbyqxmd.com/read/27617151/syndrome-associated-tumors-by-organ-system
#16
REVIEW
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
https://www.readbyqxmd.com/read/27596598/denys-drash-syndrome-associated-wt1-glutamine-369-mutants-have-altered-sequence-preferences-and-altered-responses-to-epigenetic-modifications
#17
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...
December 1, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27558459/the-effect-of-microablative-fractional-co2-laser-on-vaginal-flora-of-postmenopausal-women
#18
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
https://www.readbyqxmd.com/read/27546524/efficacy-of-erbium-yag-laser-treatment-compared-to-topical-estriol-treatment-for-symptoms-of-genitourinary-syndrome-of-menopause
#19
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
https://www.readbyqxmd.com/read/27517339/what-s-new-in-the-world-of-postmenopausal-sex
#20
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
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