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https://www.readbyqxmd.com/read/29680080/no-358-intravaginal-laser-for-genitourinary-syndrome-of-menopause-and-stress-urinary-incontinence
#1
Jens-Erik Walter, Annick Larochelle
OBJECTIVE: This technical bulletin reviews the evidence relating to risks and benefits of using intravaginal laser technology in the management of genitourinary syndrome of menopause and stress urinary incontinence. INTENDED USERS: Gynaecologists, urogynaecologists, urologists, and other health care professionals who assess, counsel, and provide care for women with genitourinary syndrome of menopause and stress urinary incontinence. TARGET POPULATION: Adult women with genitourinary syndrome of menopause and stress urinary incontinence seeking complementary or alternative treatment options to topical estrogen, non-hormonal vaginal moisturizers, physiotherapy, intravaginal devices, and surgery...
April 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29672306/effects-of-bladder-training-and-pelvic-floor-muscle-training-in-female-patients-with-overactive-bladder-syndrome-a-randomized-controlled-trial
#2
Raheela Mohsin Rizvi, Novera Ghayoor Chughtai, Naheed Kapadia
OBJECTIVE: The purpose of our study was to see the efficacy of 3 different modes of treatment for overactive bladder (OAB) in symptoms reduction and quality of life improvement. METHODS: We conducted a 12-week single-blinded randomized controlled trial of women aged 22-65 years with clinical diagnosis of OAB. Arm A (n = 47) received bladder training, arm B (n = 50) received pelvic floor muscle training (PFMT), and arm C (n = 50) received PFMT with biofeedback. Bladder diary was used to assess the difference in urinary frequency, urgency, and leak accidents before and after treatment...
April 19, 2018: Urologia Internationalis
https://www.readbyqxmd.com/read/29669767/haematometrocolpos-and-acute-pelvic-pain-associated-with-cyclic-uterine-bleeding-ohvira-syndrome
#3
Mayank Aranke, Kim Long Nguyen, Richard D Wagner, Robert P Kauffman
Obstructed hemivagina and ipsilateral renal agenesis syndrome is a complex urogenital malformation usually presenting with obstructed menses and pelvic pain during female adolescence. The diagnosis can be established preoperatively with relative certainty by MRI or ultrasonography, and outcomes are usually satisfactory following surgical resection of the septal portion of the obstructed hemivagina. Such cases are best managed in referral centres with expertise in anatomical disorders of the female genital tract...
April 18, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29575616/autosomal-dominant-robinow-syndrome-associated-with-a-novel-dvl3-splice-mutation
#4
Magdalena Danyel, Fanny Kortüm, Katarina Dathe, Kerstin Kutsche, Denise Horn
Robinow syndrome is a clinically and genetically heterogeneous disorder characterized by mesomelic limb shortening, distinctive facial features, and variable oral, cardiac, vertebral, and urogenital malformations. We identified the novel de novo splice acceptor mutation c.1715-2A > C in DVL3 in a 15-year-old female patient with typical features of Robinow syndrome. By studying DVL3 transcripts in this patient, we confirmed expression of both wild-type and mutant alleles. Mutant DVL3 mRNAs were found to harbor a deletion of four nucleotides at the beginning of exon 15 and encode a protein product with a distinct -1 reading-frame C-terminus...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29574432/primary-male-factor-infertility-due-to-asthenospermia-in-maturity-onset-diabetes-of-the-young-type-5-mody-5-uncommon-presentation-of-an-uncommon-disease
#5
Partha Pratim Chakraborty, Shinjan Patra, Sugata Narayan Biswas, Himanshu Barman
Mutations in hepatocyte nuclear factor-1β gene result in a multisystemic syndrome where a monogenic form of diabetes (maturity-onset diabetes of young type 5; MODY 5) and renal anomalies, usually bilateral multiple cysts are the most characteristic findings. Many of them have pancreatic structural abnormalities as well. A plethora of extrapancreatic manifestations like altered liver function tests, hypomagnesaemia, hyperuricaemia with/without gout and urogenital malformations, particularly in females are also components of the syndrome...
March 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29573596/lemierre-s-syndrome-following-perianal-abscess-a-case-report
#6
Qusai Aljarrah, Yara Khazaleh, Mooath Al-Jarrah, Jordan W Oldbury, Ahmad K Abou-Foul
INTRODUCTION: Lemierre's syndrome (LS) is a rare and life-threatening condition characterized by suppurative thrombophlebitis of the internal jugular vein (IJV), and a history of head and neck (H&N) sepsis. LS is usually caused by Fusobacterium necrophorum, which is part of the normal flora in the oro-pharynx, and the digestive and urogenital tracts. We here report the first case of LS following perianal sepsis. PRESENTATION OF CASE: A 60-year-old man with a painful left neck swelling, dysphagia and worsening sepsis was referred from a peripheral unit where he had an incision and drainage of a perianal abscess a week earlier...
March 16, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29572885/health-problems-associated-with-irritable-bowel-syndrome-analysis-of-a-primary-care-registry
#7
E Clevers, B Vaes, S Henrard, G Goderis, J Tack, H Törnblom, M Simrén, L Van Oudenhove
BACKGROUND: Associations between irritable bowel syndrome and other health problems have been described, but comprehensive reports are missing, especially in primary care. AIMS: To investigate which health problems are associated with irritable bowel syndrome, how they cluster together and when they are typically diagnosed relative to irritable bowel syndrome. METHODS: We used Intego, a general practice registry in Flanders, Belgium. Patients with an irritable bowel syndrome diagnosis (n = 13 701) were matched with controls without gastrointestinal diagnosis and controls with organic gastrointestinal disease...
March 24, 2018: Alimentary Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29551555/genitoplasty-in-newborn-females-with-adrenogenital-syndrome-focus-on-the-reconstruction-technique-and-its-outcomes
#8
Marjan Waterloos, Tom Claeys, Maxime Sempels, Erik Van Laecke, Piet Hoebeke, Anne-Françoise Spinoit
The adrenogenital syndrome is an autosomal recessive disorder in which an enzyme defect in the steroid pathway leads to excessive prenatal exposure of androgens. In the female fetus, masculinization of the external genitalia is observed. Surgery aims for functional and aesthetical reconstruction. Many techniques have been described. A video of our modified pull-through reconstruction technique is hereby presented. A retrospective descriptive database was created with patients who underwent genitoplasty for a CAH-associated genital condition...
March 8, 2018: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29549674/a-case-of-masson-s-tumor-of-the-penis-presenting-as-chronic-pelvic-pain-syndrome
#9
Krasimir Yanev, Aleksander Krastanov, Marincho Georgiev, Andrian Tonev, Alexander Timev, Angel Elenkov
The intravascular papillary endothelial hyperplasia (IPEH) or Masson's tumor is an unusual and rare benign disease.It is histologically characterized by papillary and anastomosing channel-like structures lined by proliferating e n dothelium. Radiologically, it is usually presented as a heterogenic solid mass with contrast enhancement, withareas resembling necrosis and thrombosis. These signs can easily be attributed to malignancy. The urogenital tractis extremely rarely affected with only 8 cases described in the kidneys and one of the penis...
March 17, 2018: Urology Journal
https://www.readbyqxmd.com/read/29539909/re-combined-therapy-with-adipose-derived-mesenchymal-stem-cells-and-ciprofloxacin-against-acute-urogenital-organ-damage-in-rat-sepsis-syndrome-induced-by-intrapelvic-injection-of-cecal-bacteria
#10
https://www.readbyqxmd.com/read/29502244/a-rare-case-of-hydrometrocolpos-from-persistent-urogenital-sinus-in-patient-affected-by-adrenogenital-syndrome
#11
REVIEW
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
https://www.readbyqxmd.com/read/29478043/prenatal-diagnosis-of-hydro-metro-colpos-a-series-of-20-cases
#12
Michael R Mallmann, Heiko Reutter, Birte Mack-Detlefsen, Ingo Gottschalk, Annegret Geipel, Christoph Berg, Thomas M Boemers, Ulrich Gembruch
BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017)...
February 23, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29468003/obstructed-hemivagina-and-ipsilateral-renal-anomaly-ohvira-syndrome
#13
Aziza Al Ghafri, Alaeddin Fida, Abdulaziz Al-Gharras
Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare congenital abnormality of the female urogenital tract. We reported OHVIRA syndrome in a 15-year-old girl, who was referred to King Faisal Specialist Hospital and Research Centre, due to hematocolpos and an imperforate hymen. The patient was diagnosed as having an absent right kidney since childhood. She presented with progressive development of lower abdominal discomfort and an abdominopelvic mass. She had no history of urinary complaints...
January 2018: Oman Medical Journal
https://www.readbyqxmd.com/read/29456211/risk-factors-associated-with-acute-kidney-injury-in-newborns
#14
Emad E Ghobrial, Salma Z Elhouchi, Sarah S Eltatawy, Lilian O Beshara
Acute kidney injury (AKI) in the newborn is a common problem in the neonatal intensive care unit with many underlying factors such as asphyxia, respiratory distress syndrome (RDS), and urogenital anomalies. The aim of this study is to highlight possible risk factors and profile of neonates developing AKI in the Neonatal Intensive Care Unit (NICU) of Cairo University Pediatric Hospital. The study was carried out on 90 neonates (30 patients and 60 controls), among neonates admitted to NICU. The study was done over two months, from January 2015 to March 2015...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29446546/de-novo-variants-in-myelin-regulatory-factor-myrf-as-candidates-of-a-new-syndrome-of-cardiac-and-urogenital-anomalies
#15
Hailey Pinz, Louise C Pyle, Dong Li, Kosuke Izumi, Cara Skraban, Jennifer Tarpinian, Stephen R Braddock, Aida Telegrafi, Kristin G Monaghan, Elaine Zackai, Elizabeth J Bhoj
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis...
February 15, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29237379/male-urogen%C3%A4-tal-d%C3%A4-sorders-and-metabol%C3%A4-c-syndrome-poss%C3%A4-ble-l%C3%A4-nks-character%C3%A4-st%C3%A4-cs-and-potent%C3%A4-al-treatment-strateg%C3%A4-es
#16
Cetin Volkan Oztekin, Ecem Kaya, Didem Yilmaz-Oral, Serap Gur
BACKGROUND: Metabolic syndrome (MetS), as a cluster of metabolic derangements which is major risk factors for vascular disease, is one of the most important threats to public health. Although the epidemiological and limited amount of basic science and clinical evidence link MetS to several male urogenital disorders, a holistic approach aiming to define common mechanistic pathways and new possible therapeutic targets are lacking. OBJECTIVE: The current review has focused on providing scientific evidence on the role of MetS and its components on male urogenital disorders and the definition of new therapeutic targets...
December 12, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29193617/clinical-and-molecular-characterization-of-an-emerging-chromosome-22q13-31-microdeletion-syndrome
#17
Pietro Palumbo, Maria Accadia, Maria P Leone, Teresa Palladino, Raffaella Stallone, Massimo Carella, Orazio Palumbo
Microdeletion of chromosome 22q13.31 is a very rare condition. Fourteen patients have been annotated in public databases but, to date, a clinical comparison has not been done and, consequently, a specific phenotype has not been delineated yet. We describe a patient showing neurodevelopmental disorders, dysmorphic features, and multiple congenital anomalies in which SNP array analysis revealed an interstitial 3.15 Mb de novo microdeletion in the 22q13.31 region encompassing 21 RefSeq genes and seven non-coding microRNAs...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29163546/glucose-6-phosphatase-catalytic-subunit-3-g6pc3-deficiency-associated-with-autoinflammatory-complications
#18
Anoop Mistry, Thomas Scambler, David Parry, Mark Wood, Gabriela Barcenas-Morales, Clive Carter, Rainer Doffinger, Sinisa Savic
G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c.130 C>T mutation, but who have clinical phenotypes that are typical for a systemic autoinflammatory syndrome. The index case presented with combination of unexplained fevers, severe mucosal ulcers, abdominal symptoms, and inflammatory arthritis. He eventually fully responded to anti-TNF therapy...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#19
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29081386/molecular-approaches-to-diagnose-diamond-blackfan-anemia-the-eurodba-experience
#20
REVIEW
Lydie Da Costa, Marie-Françoise O'Donohue, Birgit van Dooijeweert, Katarzyna Albrecht, Sule Unal, Ugo Ramenghi, Thierry Leblanc, Irma Dianzani, Hannah Tamary, Marije Bartels, Pierre-Emmanuel Gleizes, Marcin Wlodarski, Alyson W MacInnes
Diamond-Blackfan anemia (DBA) is a rare congenital erythroblastopenia and inherited bone marrow failure syndrome that affects approximately seven individuals in every million live births. In addition to anemia, about 50% of all DBA patients suffer from various physical malformations of the face, hands, heart, or urogenital region. The disorder is almost exclusively driven by haploinsufficient mutations in one of several ribosomal protein (RP) genes, although for ∼30% of diagnosed patients no mutation is found in any of the known DBA-linked genes...
October 26, 2017: European Journal of Medical Genetics
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