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https://www.readbyqxmd.com/read/28693936/sirenomelia-associated-with-discoid-adrenal-and-lumbar-meningocoele-an-autopsy-report
#1
Nelofar Islam, Bappa Mandal, Ram Narayan Das, Goutam Bera, Suchandra Mukherjee, Uttara Chatterjee
Mermaid syndrome or Sirenomelia is a rare congenital deformity in which the legs are fused and bears resemblance to mermaid's tail. It carries a poor prognosis, due to associated urogenital and gastrointestinal abnormalities. An early antenatal diagnosis using Magnetic Resonance Imaging (MRI) can help in termination of pregnancy. Embryologically, it is considered as the extreme form of caudal regression syndrome due to the persistence of vitelline artery. Here, we report a case of Sirenomelia associated with bilateral renal agenesis along with the rare findings of discoid adrenal, lumbar meningocoele and abnormalities of the hand...
June 17, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28680642/long-lasting-response-to-oral-therapy-in-a-young-male-with-monogenic-diabetes-as-part-of-hnf1b-related-disease
#2
Elena Carrillo, Amparo Lomas, Pedro J Pinés, Cristina Lamas
Mutations in hepatocyte nuclear factor 1β gene (HNF1B) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28646847/prevalence-of-birth-defects-in-iran-a-systematic-review-and-meta-analysis
#3
Yadollah Zahed Pasha, Amin Vahedi, Mohammad Zamani, Reza Alizadeh-Navaei, Ermia Zahed Pasha
INTRODUCTION: Birth defects are a series of disorders that occur during embryonic life. In Iran, no national situation analysis is available to show the rate of congenital disorders. We aimed to estimate the prevalence of structural birth defects in Iran. METHODS: We searched for English studies on PubMed, Scopus and Google Scholar from January 1990 to July 2016. The search for Persian articles was performed in Scientific Information Database and Magiran. Two reviewers assessed the identified articles independently...
June 1, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28626108/-a-case-of-partial-deletion-of-the-long-arm-of-chromosome-7
#4
Lin Yang, Ying Cheng, Qian Lin, Hong Zhang
Partial deletion of the long arm of chromosome 7 is a rare disease and is prone to missing the diagnosis or being misdiagnosed. Here we present a case of a 13-year-old boy that showed symptoms such as growth-retardation, moderate intellectual disability, hypotelorism, microcephaly, epicanthal folds, genu varum and lumbar vertebral cleft, but it did not show serious symptoms like cleft lip, urogenital malformation and hypotonia. He was eventually diagnosed as partial deletion of the long arm of chromosome 7 syndrome through gene analysis...
May 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28608793/the-immunopathogenesis-of-mycoplasma-genitalium-infections-in-women-a-narrative-review
#5
Patricia M Dehon, Chris L McGowin
Mycoplasma genitalium is a common, predominately asymptomatic, and often undiagnosed sexually transmitted infection that is associated with inflammatory urogenital and reproductive tract disease syndromes of men and women. Without programmatic screening in the United States, and with increasing resistance to antibiotics used in empiric sexually transmitted infection management, undiagnosed M. genitalium infections put many women at risk for cervicitis and pelvic inflammatory disease. Chronic infection may also lead to tubal-factor infertility, adverse pregnancy outcomes in expectant mothers, and is a risk factor for acquisition and transmission of human immunodeficiency virus...
July 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#6
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
June 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28554330/rho-associated-protein-kinase-2-rock2-a-new-target-of-autoimmunity-in-paraneoplastic-encephalitis
#7
Stoyan Popkirov, Ilya Ayzenberg, Stefanie Hahn, Jan Bauer, Yvonne Denno, Nicole Rieckhoff, Christiane Radzimski, Volkmar H Hans, Sebastian Berg, Florian Roghmann, Joachim Noldus, Christian G Bien, Sabine Skodda, Jörg Wellmer, Winfried Stöcker, Christos Krogias, Ralf Gold, Uwe Schlegel, Christian Probst, Lars Komorowski, Ramona Miske, Ingo Kleiter
Onconeural antibodies are associated with cancer and paraneoplastic encephalitis. While their pathogenic role is still largely unknown, their high diagnostic value is undisputed. In this study we describe the discovery of a novel target of autoimmunity in an index case of paraneoplastic encephalitis associated with urogenital cancer.A 75-year-old man with a history of invasive bladder carcinoma 6 years ago with multiple recurrences and a newly discovered renal cell carcinoma presented with seizures and progressive cognitive decline followed by super-refractory status epilepticus...
May 29, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28538420/prediction-of-the-outcome-of-bladder-dysfunction-based-on-electrically-induced-reflex-findings-in-patients-with-cauda-equina-syndrome-a-retrospective-study
#8
Dong Gyu Lee, Sang Gyu Kwak, Min Cheol Chang
The evaluation of the electrically induced bulbocavernosus reflex (BCR) using electromyography (EMG) is a useful tool for evaluating the integrity of sacral spinal segments 2 to 4, and that of their afferent and efferent connections in the urogenital region. In the current retrospective study, the value of this technique in predicting the outcome of bladder dysfunction was investigated in patients with cauda equina syndrome (CES). Electrically induced BCR (E-BCR) was evaluated in 40 patients with bladder dysfunction due to CES at the subacute stage (7-90 days)...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28500690/tumour-necrosis-factor-receptor-associated-periodic-syndrome-mimicking-chronic-spontaneous-urticaria
#9
LETTER
S Aurich, J C Simon, R Treudler
No abstract text is available yet for this article.
May 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28495235/prenatal-detection-of-megacystis-not-always-an-adverse-prognostic-factor-experience-in-25-consecutive-cases-in-a-tertiary-referral-center-with-complete-neonatal-outcome-and-follow-up
#10
Marcella Pellegrino, Daniela Visconti, Vincenzo Davide Catania, Luisa D'Oria, Carlo Manzoni, Maria Giovanna Grella, Alessandro Caruso, Lucia Masini, Giuseppe Noia
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012...
April 14, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28488229/chronic-prostatitis-and-its-detrimental-impact-on-sperm-parameters-a-systematic-review-and-meta-analysis
#11
R A Condorelli, G Ivan Russo, A E Calogero, G Morgia, S La Vignera
PURPOSE: Prostatitis is a very common urogenital disease of the male with prevalence ranging from 2.2 to 9.7% worldwide. Interestingly, some recent evidences have showed a significant association between chronic prostatitis (CP) and male infertility including a detrimental effect on sperm parameters, reduction of zinc concentration on semen sperm and production of anti-semen antibodies (ASAs). The aim of the current meta-analysis was to evaluate the association between CP and alteration of semen parameters...
May 9, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28469738/herlyn-werner-wunderlich-syndrome-sonographic-and-magnetic-resonance-mr-imaging-findings-of-this-rare-urogenital-anomaly
#12
Sukriye Yilmaz, Adalet Elcin Yildiz, Suat Fitoz
BACKGROUND: Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. Children usually have progressive pelvic pain after menarche, palpable mass due to hemihaemato(metro)colpos or pelvic inflammatory disease. The diagnosis usually requires a suspicion of this rare genitourinary syndrome. CASE REPORTS: We present ultrasonography and MR imaging findings of this rare anomaly in two cases...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28455899/persistent-genital-arousal-disorder-a-case-report
#13
Monika Hrynko, Roman Kotas, Anna Pokryszko-Dragan, Marta Nowakowska-Kotas, Ryszard Podemski
The persistent genital arousal disorder (PGAD) may coexist with restless legs syndrome and overactive bladder syndrome and share some similarities with these conditions. Thus, the new term: restless genital syndrome (RGS) is proposed. The purpose of this paper is to present a case of PGAD, including the description of the etiology, the diagnostics and the treatment of the disorder. The described patient meets the criteria for PGAD. Organic lesions within nervous and urogenital system were excluded and the psychogenic background of the syndrome was assumed in this case...
February 26, 2017: Psychiatria Polska
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#14
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28401276/-chronic-pelvic-pain-syndrome-treatment-options-using-osteopathy
#15
S Marx
Urogenital problems are dramatically increasing; especially chronic pelvic pain syndrome (CPPS) poses a major challenge for physicians and therapists. Few forms of therapy have been able to promise relief because the cause of CPPS remains unclear. Functional complaints are increasingly discussed as triggers. Osteopathic treatment has been reported to help many patients in recent years. In this article, the approach and osteopathic point of view of functional complaints are presented. In addition, possible causes for the development of CPPS and important anatomical structures that are directly involved in it are explained...
April 11, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28398665/both-a-frameshift-and-a-missense-mutation-of-the-stra6-gene-observed-in-an-infant-with-the-matthew-wood-syndrome
#16
Samantha Sadowski, Nicolas Chassaing, Zuzanna Gaj, Ewa Czichos, Jan Wilczynski, Dorota Nowakowska
BACKGROUND: The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. CASE: A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters...
March 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#17
Yue-Ping Wang, Da-Jia Wang, Zhi-Bin Niu, Wan-Ting Cui
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of the deleted region. The present study investigated 2 patients with 13q terminal (13qter) deletion syndrome, which manifested as anal atresia with rectoperineal fistula, complex type congenital heart disease, esophageal hiatus hernia with gastroesophageal reflux, facial anomalies and developmental and mental retardation. Array comparative genomic hybridization identified 2 regions of deletion on chromosome 13q31‑qter; 20...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28383366/a-novel-case-of-autosomal-dominant-cutis-laxa-in-a-consanguineous-family-report-and-literature-review
#18
Mehmet B Duz, Emre Kirat, Paul J Coucke, Erkan Koparir, Alper Gezdirici, Anne De Paepe, Bert Callewaert, Mehmet Seven
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema...
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28375917/urogenital-symptoms-in-neurologic-patients
#19
Jalesh N Panicker
PURPOSE OF REVIEW: Lower urinary tract and sexual dysfunction are commonly reported sequelae of neurologic disease and have a significant impact on quality of life. This article presents an up-to-date summary of the clinical presentation, investigations, and treatment options for urogenital dysfunction in patients with neurologic disease. RECENT FINDINGS: The pattern of lower urinary tract dysfunction is influenced by the site of the neurologic lesion. The risk for developing upper urinary tract damage is considerably less in patients with slowly progressive nontraumatic neurologic disorders, as compared to those with spinal cord injury or spina bifida...
April 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28367302/the-frequency-of-staphylococcus-aureus-isolated-from-endocervix-of-infertile-women-in-northwest-iran
#20
Mohammad Taghi Akhi, Aylin Esmailkhani, Javid Sadeghi, Behrooz Niknafs, Laya Farzadi, Aydin Akhi, Elmira Najafi Nasab
BACKGROUND: Infertility is one of the major social issues. Due to the asymptomatic cervical infection associated with Staphylococcus aureus (S. aureus), the majority of patients remain undiagnosed. The present study intended to assess the frequency of S. aureus isolated from infertile women's endocervix in northwest Iran. MATERIALS AND METHODS: In a descriptive cross sectional study, specimens were randomly collected during vagina examination using a sterile speculum and swabbing...
April 2017: International Journal of Fertility & Sterility
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