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Genitourinary syndrome

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https://www.readbyqxmd.com/read/28220946/light-and-energy-based-therapeutics-for-genitourinary-syndrome-of-menopause-consensus-and-controversies
#1
Yona Tadir, Adrian Gaspar, Ahinoam Lev-Sagie, Macrene Alexiades, Red Alinsod, Alex Bader, Alberto Calligaro, Jorge A Elias, Marco Gambaciani, Jorge E Graviria, Cheryl B Iglesia, Ksenija Selih-Martinec, Patricia L Mwesigwa, Urska B Ogrinc, Stefano Salvatore, Paolo Scollo, Nicola Zerbinati, John Stuart Nelson
Gynecologist and plastic surgeons pioneered the application of lasers in medicine and surgery almost 5 decades ago, initially used to treat cervical and vaginal pathologies. Ever since, energy-based devices have been deployed to treat pelvic pathologies and improve fertility. Recent technological developments triggered an unprecedented wave of publications, assessing the efficacy of fractional laser, and radiofrequency on the vaginal wall in reversing natural aging processes. Studies have shown that a certain degree of thermal energy deposited on the vaginal wall stimulates proliferation of the glycogen-enriched epithelium, neovascularization, and collagen formation in the lamina propria, and improves natural lubrication and control of urination...
February 21, 2017: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/28217872/craniosynostosis-delayed-closure-of-the-fontanelle-anal-genitourinary-and-skin-abnormalities-cdags-syndrome-first-report-in-a-mexican-patient-and-review-of-the-literature
#2
Rodrigo Pastrana-Ayala, Gretty L Peña-Castro, Adriana M Valencia-Herrera, Carlos A Mena-Cedillos, Sonia Toussaint-Caire, Yumiko I Akaki-Carreño, Constanza García-Delgado, Veronica F Morán-Barroso, Mirna Toledo-Bahena
INTRODUCTION: Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal recessive entity with only 10 cases reported; no associated gene has been identified so far. CASE REPORT: The proband is a 2-year-old Mexican female with brachycephaly, cleft palate, anal malformation with rectovestibular fistula, and clinodactyly of the third toe overlapping the second...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28214126/pulmonary-nodules-in-african-migrants-caused-by-chronic-schistosomiasis
#3
REVIEW
Federico Gobbi, Dora Buonfrate, Andrea Angheben, Anna Beltrame, Matteo Bassetti, Luca Bertolaccini, Giuseppe Bogina, Simone Caia, Silvia Duranti, Maria Gobbo, Valentina Marchese, Stefania Marocco, Maria Merelli, Geraldo Monteiro, Alberto Terzi, Zeno Bisoffi
Schistosomiasis is a neglected tropical disease that can cause mainly hepatic and genitourinary damage, depending on the species. Involvement of the lungs has been commonly described in acute infection (Katayama syndrome) and chronic infection (pulmonary hypertension). Although rarely reported in the scientific literature, cases of lung nodules due to chronic schistosome infection are also possible and are probably more frequent than commonly thought. Here we report seven cases of African migrants who were diagnosed with chronic schistosomiasis and pulmonary nodules due to deposition of schistosome eggs, and we compare our findings to the case reports found in the scientific literature...
February 14, 2017: Lancet Infectious Diseases
https://www.readbyqxmd.com/read/28207006/papillary-transitional-cell-bladder-carcinoma-and-systematized-epidermal-nevus-syndrome
#4
Adekemi Akingboye, Heather Schultz, Gina A Taylor
Epidermal nevus syndrome (ENS), also known as Solomon syndrome, is a rare neurocutaneous disorder defined by mosaicism. Epidermal nevus syndrome may be associated with a variety of systemic findings, several of which have been described in the literature, including but not limited to central nervous system abnormalities and internal malignancies. There is a paucity of reports of patients with both epidermal nevi and papillary transitional cell bladder carcinoma in the literature. We present a rare case of systematized epidermal nevi associated with development of papillary transitional cell bladder carcinoma in a young woman...
January 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28197023/genitourinary-sarcoidosis-an-essential-review-for-the-practicing-clinician
#5
REVIEW
Norman L Block, Bruce R Kava
INTRODUCTION: Sarcoidosis is a multisystem disease that commonly involves the lungs, but may also present with extrapulmonary manifestations. Genitourinary (GU) tract involvement has been traditionally thought to be rare, but that view may underestimate the true prevalence of the disease due to the often, silent presentation thereof. METHODS: The literature pertaining to sarcoidosis from the general systemic point of view, etiology and therapy and with regard to specific organs was reviewed by identifying key words in a PubMed search...
January 2017: Indian Journal of Urology: IJU: Journal of the Urological Society of India
https://www.readbyqxmd.com/read/28185617/mycobacterium-kansasii
#6
James C Johnston, Leslie Chiang, Kevin Elwood
The incidence of Mycobacterium kansasii varies widely over time and by region, but this organism remains one of the most clinically relevant isolated species of nontuberculous mycobacteria. In contrast to other common nontuberculous mycobacteria, M. kansasii is infrequently isolated from natural water sources or soil. The major reservoir appears to be tap water. Infection is likely acquired through the aerosol route, with low infectivity in regions of endemicity. Human-to-human transmission is thought not to occur...
January 2017: Microbiology Spectrum
https://www.readbyqxmd.com/read/28169913/use-of-a-novel-fractional-co2-laser-for-the-treatment-of-genitourinary-syndrome-of-menopause-1-year-outcomes
#7
Eric R Sokol, Mickey M Karram
OBJECTIVES: To assess safety and efficacy of a fractional CO2 laser therapy for the treatment of genitourinary syndrome of menopause (GSM) with follow-up to 1 year posttreatment. METHODS: Women presenting with GSM and meeting inclusion criterion were enrolled. Visual Analog Scales were used to grade vaginal pain, burning, itching, dryness, dyspareunia, and dysuria. Dilators were used to rate vaginal elasticity at baseline and at each follow-up visit. Before each treatment and at follow-up, Vaginal Health Index scoring and Female Sexual Function Index questionnaires were completed...
February 6, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/28166087/genitourinary-malformations-an-under-recognized-feature-of-ectrodactyly-ectodermal-dysplasia-and-cleft-lip-palate-syndrome
#8
Zerin Hyder, Victoria Beale, Ruth O'Connor, Jill Clayton-Smith
The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood...
February 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28154914/laser-therapy-as-a-treatment-modality-for-genitourinary-syndrome-of-menopause-a-critical-appraisal-of-evidence
#9
Angamuthu Arunkalaivanan, Hervinder Kaur, Oseka Onuma
Interest in laser therapy as a nonhormonal option for the treatment of genitourinary syndrome of menopause (GSM) has increased. We conducted a systematic review of the use of laser therapy for the relief of GSM symptoms. Six electronic databases were searched and conference abstracts were searched manually from the introduction of laser therapy to the present date. The keywords used were: "genitourinary syndrome", "vulvovaginal atrophy", "postmenopausal symptoms", "laser therapy" and "fractional laser treatment"...
February 2, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28127865/potocki-shaffer-syndrome-in-a-child-without-intellectual-disability-the-role-of-phf21a-in-cognitive-function
#10
Caroline McCool, Adiaha Spinks-Franklin, Lenora M Noroski, Lorraine Potocki
Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28098598/science-of-intracrinology-in-postmenopausal-women
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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