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urogenital syndrome

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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
#1
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
#2
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...
November 28, 2017: 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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/29079542/aapt-diagnostic-criteria-for-chronic-abdominal-pelvic-and-urogenital-pain-irritable-bowel-syndrome
#6
QiQi Zhou, Ursula Wesselmann, Lynn Walker, Linda Lee, Lonnie Zeltzer, G Nicholas Verne
In conjuction with the Analgesic, Anesthetic, and Addiction Clinical Trial Translations, Innovations, Opportunities, and Networks (ACTTION) public-private partnership with the US Food and Drug Administration and the American Pain Society (APS), the ACTTION-APS Pain Taxonomy (AAPT) initiative strove to develop the characteristics of a diagnostic system useful for clinical and research purposes across disciplines and types of chronic pain conditions. Following the establishment of these characteristics, a working group of clinicians and clinical and basic scientists with expertise in abdominal, pelvic, and urogenital pain began generating core diagnostic criteria and defining the related extraintestinal somatic pain and other symptoms experienced by patients...
October 24, 2017: Journal of Pain: Official Journal of the American Pain Society
https://www.readbyqxmd.com/read/29033614/fusion-of-lower-limbs-with-severe-urogenital-malformation-in-a-newborn-a-rare-congenital-clinical-syndrome-case-report
#7
Fatemah Al Hadhoud, Abeer H Kamal, Abdulmohsen Al Anjari, Michael Fe Diejomaoh
BACKGROUND: Fused lower limbs combined with severe urogenital malformation, also known as sirenomelia, is a rare congenital clinical syndrome. The etiology is unknown, and the outcome for the affected fetus is rather uncertain. CASE REPORT: Mrs RB, a Kuwaiti woman primigravida, married to a non-consanguineous husband, had uneventful antenatal care in a private health service, until she was admitted to the Maternity Hospital, Kuwait, at 31 weeks of gestation with a 3-hour history of ruptured membranes...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29022095/laparoscopic-portoenterostomy-for-biliary-atresia-single-center-experience-and-review-of-literatures
#8
Joel Cazares, Hiroyuki Koga, Hiroshi Murakami, Hiroki Nakamura, Geoffrey Lane, Atsuyuki Yamataka
AIM: The aim of this report was to present the laparoscopic portoenterostomy (LapPE) procedure developed by the Department of Pediatric General and Urogenital Surgery, Juntendo University School of Medicine (JLapPE). We also attempted to obtain an understanding of the current status of laparoscopic portoenterostomy in the world as reported in the English literature to compare with our experience. METHODS: There were 22 BA patients who had JLapPE between 2009 and 2016...
December 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/28964675/the-congenital-undescended-scapula-syndrome-sprengel-and-the-cleithrum-a-case-series-and-hypothesis
#9
Rishi Dhir, Kuen Chin, Simon Lambert
BACKGROUND: Sprengel deformity is a rare congenital shoulder girdle anomaly characterized by scapula malposition, periscapular muscle atrophy, and limited shoulder movement. Traditionally, it has been managed by omovertebral bar excision and muscle transplantation procedures guided by age and Cavendish grade. We present a unique observation in humans: a case series with Sprengel deformity possessing a cleithrum, an ancestral remnant of shoulder girdle development found in archaic bony fish...
September 27, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28947713/a-missense-mutation-of-hoxa13-underlies-hand-foot-genital-syndrome-in-a-chinese-family
#10
Lihua Cao, Chen Chen, Yunji Leng, Lulu Yan, Shusen Wang, Xue Zhang, Yang Luo
Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identify causative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability of HOXA13 to activate transcription of the human EPHA7 promoter...
September 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28943081/a-large-retrospective-review-of-persistent-proteinuria-in-children
#11
Chingying Chang-Chien, Gwo-Tsann Chuang, I-Jung Tsai, Bor-Luen Chiang, Yao-Hsu Yang
BACKGROUND: Proteinuria is a common finding in children. It may be due to a benign cause, but it can also represent early renal injury. Of children with persistent proteinuria noted in mass urine screening programs, 35% have a urine protein level greater than 100 mg/dl and many of them are associated with many underlying renal diseases. The aim of this study was to identify the etiology and prognosis of persistent proteinuria in children. METHODS: We collected data on urine protein from January 2011 to December 2016 in a tertiary medical center...
September 21, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28935188/liver-transplantation-for-nash-cirrhosis-is-not-performed-at-the-expense-of-major-post-operative-morbidity
#12
Eline H van den Berg, Rianne M Douwes, Vincent E de Meijer, Tim C M A Schreuder, Hans Blokzijl
BACKGROUND: Non-alcoholic steatohepatitis (NASH) is an emerging indication for liver transplantation (LT) and coexists with multiple comorbidities. Obese and cirrhotic patients experience more perioperative complications. Limited data exist about short-term complications after LT for NASH cirrhosis. AIM: Investigate short-term complications in patients transplanted for NASH cirrhosis. METHODS: Single center retrospective cohort study including patients >18years who underwent LT between 2009-2015...
August 12, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28924546/sirenomelia-associated-with-hypoplastic-left-heart-in-a-newborn
#13
H Turgut, R Ozdemir, I K Gokce, C Karakurt, A Karadag
Sirenomelia, also known as "mermaid malformation/syndrome," is a rare, serious congenital anomaly characterized by variable degrees of fusion of the lower limbs and associated with severe malformations of vertebral, genitourinary, cardiovascular system and single umbilical artery. The first pregnancy of a 25-year-old woman resulted in one twin born by Cesarian section at 32 weeks' gestation, who was referred to our hospital with cyanosis, a congenital anomaly and respiratory distress. On physical examination, there was no urogenital region and anal fissure and gender was indeterminate...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#14
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28904187/genomic-characterization-of-urethritis-associated-neisseria-meningitidis-shows-that-a-wide-range-of-n-meningitidis-strains-can-cause-urethritis
#15
Kevin C Ma, Magnus Unemo, Samo Jeverica, Robert D Kirkcaldy, Hideyuki Takahashi, Makoto Ohnishi, Yonatan H Grad
Neisseria meningitidis, typically a resident of the oro- or nasopharynx and the causative agent of meningococcal meningitis and meningococcemia, is capable of invading and colonizing the urogenital tract. This can result in urethritis, akin to the syndrome caused by its sister species N. gonorrhoeae, the etiologic agent of gonorrhea. Recently, meningococcal strains associated with outbreaks of urethritis were reported to share genetic characteristics with gonococcus, raising the question of the extent to which these strains contain features that promote adaptation to the genitourinary niche, making them gonococcal-like and distinguishing them from other N...
September 13, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28900682/treatment-of-staphylococcus-aureus-infections
#16
Michael Z David, Robert S Daum
Staphylococcus aureus, although generally identified as a commensal, is also a common cause of human bacterial infections, including of the skin and other soft tissues, bones, bloodstream, and respiratory tract. The history of S. aureus treatment is marked by the development of resistance to each new class of antistaphylococcal antimicrobial drugs, including the penicillins, sulfonamides, tetracyclines, glycopeptides, and others, complicating therapy. S. aureus isolates identified in the 1960s were sometimes resistant to methicillin, a ß-lactam antimicrobial active initially against a majority S...
September 13, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28854582/incidence-prevalence-diagnostic-delay-morbidity-mortality-and-socioeconomic-status-in-males-with-46-xx-disorders-of-sex-development-a-nationwide-study
#17
A Berglund, T H Johannsen, K Stochholm, L Aksglaede, J Fedder, M H Viuff, K M Main, C H Gravholt
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER: 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. WHAT IS KNOWN ALREADY: 46,XX DSD males are rare and estimates of prevalence and incidence are limited...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28838864/pelvic-abscess-secondary-to-mycoplasma-hominis-following-vaginal-laceration
#18
Vini Vijayan, Gail L Woods, Dale R Donnell, José R Romero
BACKGROUND: Mycoplasma hominis frequently colonizes the urogenital and respiratory tracts of healthy individuals. It has also been associated with genitourinary tract and extra-genital syndromes. CASE: We present a 14-year-old girl who developed a pelvic abscess secondary to M. hominis following a vaginal laceration during sexual intercourse. Despite drainage and broad spectrum antimicrobial therapy, the patient remained symptomatic until M. hominis was identified and specific therapy instituted...
August 21, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28838077/the-unique-microbiology-and-molecular-pathogenesis-of-mycoplasma-genitalium
#19
REVIEW
Chris L McGowin, Patricia A Totten
Mycoplasma genitalium is increasingly appreciated as a common cause of sexually transmitted disease syndromes, including urethritis in men and cervicitis, endometritis, pelvic inflammatory disease, and possibly preterm birth, tubal factor infertility, and ectopic pregnancy in women. Despite these disease associations, which parallel those of Chlamydia trachomatis and Neisseria gonorrhoeae, the mechanisms by which this pathogen elicits inflammation, causes cellular damage, and persists in its only natural host (humans) are unique and are not fully understood...
July 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28791270/herlyn-werner-wunderlich-syndrome-an-unusual-presentation-with-pyocolpos
#20
Eun Jung Jung, Moon Hyeong Cho, Da Hyun Kim, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Kyung Bok Lee
Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information...
July 2017: Obstetrics & Gynecology Science
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