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Genitourinary syndrome

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https://www.readbyqxmd.com/read/29234255/influence-of-orally-administered-probiotic-lactobacillus-strains-on-vaginal-microbiota-in-women-with-breast-cancer-during-chemotherapy-a-randomized-placebo-controlled-double-blinded-pilot-study
#1
Julian Marschalek, Alex Farr, Marie-Louise Marschalek, Konrad J Domig, Wolfgang Kneifel, Christian F Singer, Herbert Kiss, Ljubomir Petricevic
Background: Due to chemotherapy and estrogen deprivation therapy, genitourinary syndrome of menopause is a common condition in breast cancer patients. We aimed to determine the effect of an orally administered Lactobacillus preparation on the vaginal microbiota in breast cancer patients. Methods: Postmenopausal breast cancer patients receiving chemotherapy, with vaginal atrophy and an intermediate vaginal microbiota (Nugent score 4-6), were either randomized to the intervention group receiving probiotic capsules of 4 Lactobacillus species or to the control group receiving placebo twice daily for 2 weeks...
October 2017: Breast Care
https://www.readbyqxmd.com/read/29202940/genitourinary-syndrome-of-menopause-management-strategies-for-the-clinician
#2
REVIEW
Stephanie S Faubion, Richa Sood, Ekta Kapoor
Genitourinary syndrome of menopause (GSM), previously known as atrophic vaginitis or vulvovaginal atrophy, affects more than half of postmenopausal women. Caused by low estrogen levels after menopause, it results in bothersome symptoms, including vaginal dryness, itching, dyspareunia, urinary urgency and increased frequency, and urinary tract infections. Even though women with GSM can have sexual dysfunction that interferes with partner relationships, women are often embarrassed to seek treatment, and health care professionals do not always actively screen for GSM...
December 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29184855/dealing-with-complex-overactive-bladder-syndrome-patient-profiles-with-focus-on-fesoterodine-in-or-out-of-the-eau-guidelines
#3
REVIEW
John Heesakkers, Montserrat Espuña Pons, Philip Toozs Hobson, Emmanuel Chartier-Kastler
Overactive bladder (OAB) syndrome is a common, complex, and challenging condition. To assist the management of these patients, the European Association of Urology (EAU) updates its guidelines annually. This review reports the presentations from the symposium titled "Dealing with complex OAB patient profiles: in or out of the EAU guidelines?" held at the 32nd EAU Annual Congress in March 2017 in London. The symposium focused on three groups of OAB patients: women who may also suffer pelvic organ prolapse, stress urinary incontinence, the genitourinary syndrome of menopause (GSM); patients at risk of cognitive impairment; and elderly patients...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/29184791/comprehensive-pelvic-floor-physical-therapy-program-for-men-with-idiopathic-chronic-pelvic-pain-syndrome-a-prospective-study
#4
Thomas A Masterson, John M Masterson, Jessica Azzinaro, Lattoya Manderson, Sanjaya Swain, Ranjith Ramasamy
Background: Male chronic pelvic pain syndrome (CPPS) is a heterogeneous constellation of symptoms that causes significant impairment and is often challenging to treat. In this prospective study, we evaluated men with CPPS who underwent comprehensive pelvic floor physical therapy (PFPT) program. We used the previously validated Genitourinary Pain Index (GUPI) to measure outcomes. Methods: We included 14 men who underwent physical therapy for idiopathic CPPS from October 2015 to October 2016...
October 2017: Translational Andrology and Urology
https://www.readbyqxmd.com/read/29177010/7p15-deletion-as-the-cause-of-hand-foot-genital-syndrome-a-case-report-literature-review-and-proposal-of-a-minimum-region-for-this-phenotype
#5
Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria Del Castillo, Sara Frías
Background: Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS caused by interstitial deletions in this region. Case presentation: We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29169895/additional-features-of-gillespie-syndrome-in-two-brazilian-siblings-with-a-novel-itpr1-homozygous-pathogenic-variant
#6
Daniel R Carvalho, João Eugenio G Medeiros, Daniela Sebestyan M Ribeiro, Bernardo Jaf Martins, Nara L M Sobreira
Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and intellectual disability. The typical iris anomaly is considered necessary to the diagnosis of GS. Recently, variants in ITPR1 were described causing GS. Non-neurological features were reported in few patients. Here we describe two consanguineous siblings with GS and a novel homozygous ITPR1 pathogenic variant (p.N984fs). They also present a cardiac defect (pulmonary valve stenosis) and one sib had a genitourinary malformation (ureteropelvic junction obstruction)...
November 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29160006/kaufman-oculocerebrofacial-syndrome-novel-ube3b-mutations-and-clinical-features-in-four-unrelated-patients
#7
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130549/concomitant-idh-wildtype-glioblastoma-and-idh1-mutant-anaplastic-astrocytoma-in-a-patient-with-constitutional-mismatch-repair-deficiency-syndrome
#8
Francesca Galuppini, Enrico Opocher, Uri Tabori, Isabella Mammi, Melissa Edwards, Britany Campbell, Jacalyn Kelly, Alessandra Viel, Michele Quaia, Francesca Rivieri, Domenico D'Avella, Antonella Arcella, Felice Giangaspero, Matteo Fassan, Marina Paola Gardiman
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predisposition syndrome, presenting with both extracranial and malignant brain tumours that occur in children and/or young adults [1]. The genetic defects underlying this disease are biallelic germline mutations in one of the DNA mismatch repair (MMR) genes leading to a constitutional DNA repair defect that causes a cancer predisposition syndrome with early onset [2]. This mechanism is different from Lynch syndrome (LS) where a heterozygous germline loss-of-function mutation is observed and the patients are more prone to develop colon and genitourinary cancers as adults [1]...
November 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29115370/-febrile-syndromes-in-the-traveler-returning-from-tropical-regions-admitted-in-a-monographic-unit
#9
N Moya Notario, M Hernández-Cabrera, C Carranza-Rodríguez, E Pisos-Álamo, N Jaén-Sánchez, J L Pérez-Arellano
OBJECTIVE: The aim was to analyse those syndromes with fever in travellers who return from tropical regions evaluated at our Department of Infectology and Tropical Medicine. Clarifying these conditions intends to reach earlier diagnoses and, perhaps, to avoid the emergence and spread of imported diseases, as well as to establish appropriate preventive measures. METHODS: An observational descriptive transversal study was performed, selecting those patients who returned from tropical regions with fever, amongst all travellers evaluated in our department between 1998 and 2013...
November 8, 2017: Revista Española de Quimioterapia: Publicación Oficial de la Sociedad Española de Quimioterapia
https://www.readbyqxmd.com/read/29113255/acute-renal-failure-due-to-small-cell-neuroendocrine-carcinoma-of-the-left-kidney-a-case-report
#10
Hakan Bahadir Haberal, Şenol Tonyali, Dilek Ertoy Baydar, Cenk Yücel Bilen
The majority of small cell carcinoma (SCC) cases originate from the lungs. SCC of the kidneys is rare. Among genitourinary tumors, renal cell carcinoma is the most common type of tumor to be associated with paraneoplastic syndromes. The majority of paraneoplastic syndromes disappear following nephrectomy in renal cell carcinoma cases. The present case involved the assessment of a female patient with SCC of the left kidney. The patient was diagnosed with acute renal failure and underwent a laparoscopic left radical nephrectomy...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29110636/phenotypic-and-genotypic-aspects-of-townes-brock-syndrome-case-report-of-patient-in-southern-brazil-with-a-new-sall1-hotspot-region-nonsense-mutation
#11
Paulo Breno Noronha Liberalesso, Mara L Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect...
November 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29082627/gastrointestinal-and-feeding-difficulties-in-charge-syndrome-a-review-from-head-to-toe
#12
REVIEW
Kim D Blake, Alexandra S Hudson
CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29064335/overall-safety-of-ospemifene-in-postmenopausal-women-from-placebo-controlled-phase-2-and-3-trials
#13
James A Simon, Corrado Altomare, Susannah Cort, Wei Jiang, JoAnn V Pinkerton
OBJECTIVE: To evaluate the safety of daily oral ospemifene 60 mg, estrogen agonist/antagonist, used to treat moderate-to-severe dyspareunia due to postmenopausal vulvovaginal atrophy, which is part of genitourinary syndrome of menopause. METHODS: Post hoc analysis of safety data (treatment-emergent adverse events [TEAEs]) pooled from six phase 2 and 3 randomized, double-blind, multicenter placebo-controlled studies, evaluating the effects of ospemifene 60 mg on the breast, cardiovascular system, and bone in postmenopausal women...
October 24, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/29062322/whole-gene-deletion-of-ebf3-supporting-haploinsufficiency-of-this-gene-as-a-mechanism-of-neurodevelopmental-disease
#14
Fátima Lopes, Gabriela Soares, Miguel Gonçalves-Rocha, Jorge Pinto-Basto, Patrícia Maciel
Mutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the literature. However, small deletions (<1 MB) affecting almost exclusively EBF3 are not commonly reported...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29061165/sustained-endocrine-profiles-of-a-girl-with-wagr-syndrome
#15
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
BACKGROUND: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. CASE PRESENTATION: We report a 5-year-old girl with the typical phenotype of WAGR syndrome...
October 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29054895/lemierre-s-syndrome-variant-of-the-gut
#16
Thomas E Mellor, Natalie Mitchell, Jessica Logan
Infectious suppurative thrombophlebitis of the portal venous system, referred to as pylephlebitis, is a rare complication of intra-abdominal inflammatory processes. Advances in diagnostics and antibiotics have improved survival, but mortality remains remarkably high even in the most recent literature. The majority of patients have concomitant bacteraemia on presentation most commonly with typical gastrointestinal (GI) organisms. On rare occasion, patients have culture positive Fusobacterium, which has recently been associated with occult GI and genitourinary malignancies...
October 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29046629/cerebellar-vermis-and-midbrain-hypoplasia-upon-conditional-deletion-of-chd7-from-the-embryonic-mid-hindbrain-region
#17
Alex P A Donovan, Tian Yu, Jacob Ellegood, Kimberley L H Riegman, Christa de Geus, Conny van Ravenswaaij-Arts, Cathy Fernandes, Jason P Lerch, M Albert Basson
Reduced fibroblast growth factor (FGF) signaling from the mid-hindbrain or isthmus organizer (IsO) during early embryonic development results in hypoplasia of the midbrain and cerebellar vermis. We previously reported evidence for reduced Fgf8 expression and FGF signaling in the mid-hindbrain region of embryos heterozygous for Chd7, the gene mutated in CHARGE (Coloboma, Heart defects, choanal Atresia, Retarded growth and development, Genitourinary anomalies and Ear defects) syndrome. However, Chd7(+/-) animals only exhibit mild cerebellar vermis anomalies...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29040373/nonsurgical-vulvovaginal-rejuvenation-with-radiofrequency-and-laser-devices-a-literature-review-and-comprehensive-update-for-aesthetic-surgeons
#18
Ali A Qureshi, Marissa M Tenenbaum, Terence M Myckatyn
Nonsurgical vulvovaginal rejuvenation (NVR) is growing in popularity as a treatment for restoration of youthful female genitalia. Numerous radiofrequency (RF) and laser devices have entered the market claiming improvement in vaginal laxity and genitourinary syndrome of menopause. There is a paucity of evidence existing concerning the effectiveness of these devices for both pre- and postmenopausal women with laxity and/or atrophy at the histologic and clinical level. Therefore, the goal of this review is to scrutinize the peer-reviewed data on NVR with RF and laser devices, identify gaps in existing literature, and propose opportunities for further investigation...
September 20, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29040220/vaginal-estrogen-in-the-treatment-of-genitourinary-syndrome-of-menopause-and-risk-of-endometrial-cancer-an-assessment-of-recent-studies-provides-reassurance
#19
JoAnn V Pinkerton, Andrew M Kaunitz, JoAnn E Manson
No abstract text is available yet for this article.
October 16, 2017: Menopause: the Journal of the North American Menopause Society
https://www.readbyqxmd.com/read/29040217/shining-the-light-on-genitourinary-syndrome-of-menopause-in-survivors-of-breast-cancer
#20
Sheryl Kingsberg, Lisa Larkin
No abstract text is available yet for this article.
October 16, 2017: Menopause: the Journal of the North American Menopause Society
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