keyword
MENU ▼
Read by QxMD icon Read
search

Genitourinary syndrome

keyword
https://www.readbyqxmd.com/read/28098598/science-of-intracrinology-in-postmenopausal-women
#1
Fernand Labrie, Alain Bélanger, Georges Pelletier, Céline Martel, David F Archer, Wulf H Utian
OBJECTIVE: To illustrate the marked differences between classical endocrinology that distributes hormones to all tissues of the body through the bloodstream and the science of intracrinology, whereby each cell of each peripheral tissue makes a small and appropriate amount of estrogens and androgens from the inactive precursor dehydroepiandrosterone (DHEA), DHEA being mainly of adrenal origin. Because only the inactivated sex steroids are released in the blood, influence in the other tissues is avoided...
January 16, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28094084/incontinence-and-psychological-symptoms-in-individuals-with-mowat-wilson-syndrome
#2
Justine Niemczyk, Stewart Einfeld, David Mowat, Monika Equit, Catharina Wagner, Leopold Curfs, Alexander von Gontard
BACKGROUND: Mowat-Wilson Syndrome (MWS) is caused by deletion/mutation of the ZEB2 gene on chromosome 2q22. MWS is characterized by a distinctive facial appearance, severe intellectual disability and other anomalies, e.g. seizures and/or Hirschsprung disease (HSCR). Most individuals have a sociable demeanor, but one third show psychological problems. AIMS: The aim was to investigate incontinence and psychological problems in MWS. METHODS AND PROCEDURES: 26 children (4-12 years), 13 teens (13-17 years) and 8 adults (>18years) were recruited through a MWS support group...
January 13, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28054444/heterozygous-pathogenic-variant-in-dact1-causes-an-autosomal-dominant-syndrome-with-features-overlapping-townes-brocks-syndrome
#3
Bryn D Webb, Sanjeeva Metikala, Patricia G Wheeler, Mingma D Sherpa, Sander M Houten, Marko E Horb, Eric E Schadt
A heterozygous nonsense variant was identified in dapper, antagonist of beta-catenin, 1 (DACT1) via whole exome sequencing in family members with imperforate anus, structural renal abnormalities, genitourinary anomalies, and/or ear anomalies. The DACT1 c.1256G>A;p.Trp419* variant segregated appropriately in the family consistent with an autosomal dominant mode of inheritance. DACT1 is a member of the Wnt signaling pathway, and mice homozygous for null alleles display multiple congenital anomalies including absent anus with blind-ending colon and genitourinary malformations...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28054101/management-of-bilateral-wilms-tumours
#4
REVIEW
Alastair J W Millar, Sharon Cox, Alan Davidson
Wilms tumour is named after Max Wilms. It is an embryonal tumour derived from the metanephros. It is the commonest childhood renal tumour and the third commonest paediatric malignancy. Synchronous bilateral Wilms tumours (BWT) represent 4-7% of all Wilms tumours (WT) and present at a younger age than unilateral Wilms tumours. At least 10% of synchronous BWTs have unfavourable histology, and up to 22% are associated with genitourinary abnormalities, aniridia, WAGR syndrome, Denys-Drash Syndrome, hemihypertrophy, or one of the other overgrowth syndromes...
January 4, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#5
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28003925/fetal-valproate-syndrome-with-limb-defects-an-indian-case-report
#6
Manisha Goyal, Ashok Gupta, Manish Sharma, Priyanshu Mathur, Naresh Bansal
Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS), comprising typical facial features, developmental delay, and a variety of malformations such as neural tube defects, cardiac and genitourinary malformations, and limb defects...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27999827/cauda-equina-syndrome-an-emergency-some-unexpected-severe-symptoms-and-conservative-treatment
#7
Philip Grammaticos, Nikitas Papadopoulos, Labib Tarazi, Dimosthenis Katsarkas
An 83 years old physician, doing only office work and no exercise, presented with cauda equine, due to a large intervertebral disk hernia between L1-L2 vertebrae, after an unorthodox movement. He also had a facet syndrome, a muscular spasm in the gluteus, a small fracture in the periphery of the body of the L2 vertebra and pain in the L4-L5, due to a previous vertebral hernia five years ago. All L1-L5 left lateral area was painful. He felt an unbearable pain. He also had a degree of paralysis of the gastrointestinal (GI) and the genitourinary system...
September 2016: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/27980495/probiotics-and-disease-a-comprehensive-summary-part-1-mental-and-neurological-health
#8
REVIEW
Keren E Dolan, Heather J Finley, Cathleen M Burns, Margaret G Gasta, Crystal M Gossard, Emily C Parker, Jessica M Pizano, Christy B Williamson, Elizabeth A Lipski
This article series provides a literature review of the disease-specific probiotic strains studied in published clinical trials in humans and animals. The goal of the series is to provide clinically useful tools. The table designs allow for quick access to supportive data related to disease states and will be helpful as a guide for both researchers and clinicians. This first article (part 1) focuses on mental health and neurological conditions. Future articles in this series will review conditions related to cardiometabolic and fatigue syndromes; ear, nose, throat, respiratory, and infectious diseases; immune and dermatological conditions; cancer, gastrointestinal and genitourinary; followed by an article focused on food-based probiotic strains and nutritional supplements...
October 2016: Integrative Medicine
https://www.readbyqxmd.com/read/27939779/comparative-immunomorphology-of-testicular-sertoli-and-sertoliform-tumors
#9
Hector Mesa, Scott Gilles, Milton W Datta, Paari Murugan, Wendy Larson, Susan Dachel, Juan C Manivel
Sertoli cell (SC) and sertoliform tumors of the testis are very uncommon; for this reason their differential diagnosis and classification can be challenging. We applied an extensive immunophenotypic panel that included androgenic hormones, enzymes and receptors, neuroendocrine, lineage and genitourinary markers to a series of these lesions to determine if and which immunostains can aid in their diagnostic workup. Study cases included: 2 androgen insensitivity syndrome associated SC-adenomas, 3 SC tumors not otherwise specified (SCT-NOS), 3 sclerosing-SCT, 2 large cell calcifying-SCT, 1 SCT with heterologous-sarcomatous elements, 1 malignant SCT, and 1 sertoliform rete testis adenoma (sertoliform-RTA)...
December 7, 2016: Human Pathology
https://www.readbyqxmd.com/read/27929271/hormone-therapy-and-other-treatments-for-symptoms-of-menopause
#10
D Ashley Hill, Mark Crider, Susan R Hill
The results of large clinical trials have led physicians and patients to question the safety of hormone therapy for menopause. In the past, physicians prescribed hormone therapy to improve overall health and prevent cardiac disease, as well as for symptoms of menopause. Combined estrogen/progestogen therapy, but not estrogen alone, increases the risk of breast cancer when used for more than three to five years. Therefore, in women with a uterus, it is recommended that physicians prescribe combination therapy only to treat menopausal symptoms such as vasomotor symptoms (hot flashes) and vaginal atrophy, using the smallest effective dosage for the shortest possible duration...
December 1, 2016: American Family Physician
https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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-world-health-organization-2016-classification-of-testicular-non-germ-cell-tumours-a-review-and-update-from-the-international-society-of-urological-pathology-testis-consultation-panel
#18
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 germ cell tumours; however, several modifications were also made for non-germ cell tumours. Among sex cord-stromal tumours, sclerosing Sertoli cell tumour (SCT) is no longer recognized as a separate entity but as a morphological variant of SCT not otherwise specified (NOS), as CTNNB1 gene mutations have been noted in both neoplasms but not in the other forms of SCT...
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
#19
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
#20
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
keyword
keyword
113093
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"