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https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#1
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28293790/deconstructing-the-genitourinary-syndrome-of-menopause
#2
Pedro Vieira-Baptista, Claudia Marchitelli, Hope K Haefner, Gilbert Donders, Faustino Pérez-López
The concept of genitourinary syndrome of menopause (GSM) was recently introduced and has been gaining widespread use. While some justifications for its introduction are straightforward, others may be questionable. Numerous unspecific symptoms and signs were included in the definition of the syndrome, but the minimum number required for diagnosis was not established. While the GSM definition is designed to facilitate identifying vulvovaginal and urinary estrogen-deprivation-associated symptoms and signs, several concerns have evolved: (1) the syndrome may result in the underdiagnosis of vulvar and urinary pathology; and (2) serious conditions (e...
March 14, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28265850/a-general-description-for-chinese-medicine-in-treating-premature-ovarian-failure
#3
Jing Lin, Xue-Lian Li, Hui Song, Qian Li, Ming-Yan Wang, Xue-Min Qiu, Da-Jin Li, Ling Wang
Premature ovarian failure (POF) is a kind of gynecological disease that causes amenorrhea, infertility, menopause and urogenital symptoms. Currently hormone replacement therapy (HRT) is the most popular choice for women with POF to get rid of menopausal syndrome. However, as the popularization of Chinese herbs made Chinese medicine (CM) shine new lights, physicians are able to treat POF with both meno-herbs and integrated therapy. HRT has its own indications and contraindications. For example, unexplained vaginal bleeding, acute liver damage, liver dysfunction, vascular embolization, and breast cancer are all contraindications of HRT, and CM is taken by more physicians as an adjuvant therapy...
February 2017: Chinese Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28261938/mast-cell-disorders-in-ehlers-danlos-syndrome
#4
REVIEW
Suranjith L Seneviratne, Anne Maitland, Lawrence Afrin
Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes...
March 6, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28247634/-anthropomorphic-features-of-patients-with-tuberculosis-of-the-prostate
#5
A V Osadchii, E V Kulchavenya, E V Brizhatyuk
INTRODUCTION: Modern TB patient has lost the physical appearance (habitus phtisicus) typical for the previous years. Moreover, patients with different tuberculosis localizations also have different anthropomorphic characteristics. MATERIAL AND METHODS: To determine anthropomorphic characteristics of patients with tuberculosis of the prostate, several parameters were compared between 95 male patients with pulmonary tuberculosis and 49 patients with prostatic tuberculosis...
August 2016: Urologii︠a︡
https://www.readbyqxmd.com/read/28217167/russell-silver-syndrome-associated-with-low-conus-medullaris
#6
Larisa Gabor, Huseyin Canaz, Gokhan Canaz, Nursu Kara, Ibrahim Alatas, Hakan Bozkus
Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28129759/demography-maternal-health-and-the-epidemiology-of-malaria-and-other-major-infectious-diseases-in-the-rural-department-tsamba-magotsi-ngounie-province-in-central-african-gabon
#7
R Zoleko Manego, G Mombo-Ngoma, M Witte, J Held, M Gmeiner, T Gebru, B Tazemda, J Mischlinger, M Groger, B Lell, A A Adegnika, S T Agnandji, P G Kremsner, B Mordmüller, M Ramharter, P B Matsiegui
BACKGROUND: Sub-Saharan Africa is undergoing an epidemiological transition from a predominance of infectious diseases to non-communicable and lifestyle related conditions. However, the pace of this transition and the pattern of disease epidemiology are uneven between affluent urban and rural poor populations. To address this question for a remote rural region located in the central African rainforest region of Gabon, this study was conducted to assess reasons for health care attendance and to characterize the epidemiology of malaria and other major infectious diseases for the department of Tsamba Magotsi...
January 28, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28128702/new-classification-of-spinal-lipomas-based-on-embryonic-stage
#8
Nobuhito Morota, Satoshi Ihara, Hideki Ogiwara
OBJECTIVE Spinal lipomas are generally thought to occur as a result of failed primary neurulation. However, some clinical features cannot be explained by this theory. The authors propose a novel classification of spinal lipomas based on embryonic changes seen during primary and secondary neurulation. METHODS A total of 677 patients with occult spinal dysraphism underwent 699 surgeries between August 2002 and May 2015 at the National Center for Child Health and Development and Tokyo Metropolitan Children's Medical Center...
January 27, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28107899/childhood-trauma-perpetrated-by-close-others-psychiatric-dysfunction-and-urological-symptoms-in-patients-with-interstitial-cystitis-bladder-pain-syndrome
#9
Chui-De Chiu, Ming-Huei Lee, Wei-Chih Chen, Hoi Lam Ho, Huei-Ching Wu
BACKGROUND: A psychosocial phenotype of interstitial cystitis/bladder pain syndrome (IC/BPS), a urogenital condition without known organic causes, was proposed. While psychosocial variables, including interpersonal maltreatment and negative affect, were studied in association with IC/BPS, the specificities of the relationships between childhood trauma by close others, psychiatric dysfunctions (negative affect and post-traumatic psychopathology), and urogenital symptoms have not been established...
February 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28007035/sacral-agenesis-a-pilot-whole-exome-sequencing-and-copy-number-study
#10
Robert M Porsch, Elisa Merello, Patrizia De Marco, Guo Cheng, Laura Rodriguez, Manting So, Pak C Sham, Paul K Tam, Valeria Capra, Stacey S Cherny, Maria-Mercè Garcia-Barcelo, Desmond D Campbell
BACKGROUND: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes. METHOD: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations...
December 22, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27966802/zika-virus-a-new-threat-to-human-reproduction
#11
REVIEW
David Baud, Didier Musso, Manon Vouga, Marco P Alves, Nicolas Vulliemoz
Zika virus (ZIKV) was first isolated in 1947 in a rhesus monkey from the Zika forest of Uganda. Until 2007, only 14 human cases were reported. The first large human outbreak occurred in 2007 (Yap Island, Federated States of Micronesia, Pacific) followed by French Polynesia in 2013 and Brazil in 2015. The virus is mainly transmitted through Aedes mosquito bites, but sexual and post-transfusion transmissions have been reported. Symptoms include low-grade fever, maculopapular rash, conjunctivitis, myalgia, arthralgia, and asthenia...
February 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/27965957/22q11-deletion-syndrome-and-urogenital-manifestations-a-clinicopathological-case-report
#12
M Vachette, G E Grant, J Bouquet de la Joliniere, M Jotterand, N Ben Ali, A Feki, R Capoccia Brugger
BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#13
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27920841/wolffian-origin-of-vagina-unfolds-the-embryopathogenesis-of-ohvira-obstructed-hemivagina-and-ipsilateral-renal-anomaly-syndrome-and-places-ohvira-as-a-female-counterpart-of-zinner-syndrome-in-males
#14
Yashant Aswani, Ravi Varma, Pradeep Choudhary, Reeta B Gupta
BACKGROUND: The classical theory of Müllerian origin of upper vagina fails to explain complex urogenital malformations like OHVIRA syndrome; the Acien's hypothesis, however, unravels the hidden embryopathogenesis. As per Acien, Wolffian (mesonephric) ducts instead of Müllerian ducts and sinovaginal bulbs, give rise to the vagina. The new hypothesis, however, retains the concept of origin of the ureters (with ureters inducing renal development) by the former and the uterus by Müllerian ducts...
2016: Polish Journal of Radiology
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#15
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27882259/right-lung-agenesis-with-tracheal-stenosis-due-to-complete-tracheal-rings-and-postpneumonectomy-like-syndrome-treated-with-tissue-expander-placement
#16
Yashwant Agrawal, Sandeep Patri, Jagadeesh K Kalavakunta
Congenital lung agenesis is an extremely rare condition with an estimated prevalence of 34 in 1,000,000 live births. It is often associated with other congenital malformations of the skeletal, cardiovascular, urogenital, and gastrointestinal systems. We discuss the case of a 5-month-old who presented with increasing stridor over 1 month. Imaging revealed right lung agenesis, complete dextromalposition of heart, and compression of distal trachea. An intrathoracic saline tissue expander was placed which marked improved distal tracheal stenosis...
2016: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/27845140/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
#17
https://www.readbyqxmd.com/read/27823733/microablative-fractional-co2-laser-therapy-and-the-genitourinary-syndrome-of-menopause-an-observational-study
#18
Eleni Pitsouni, Themos Grigoriadis, Angeliki Tsiveleka, Dimitris Zacharakis, Stefano Salvatore, Stavros Athanasiou
OBJECTIVES: This study aimed to assess the effect of the Microablative Fractional CO2 Laser (CO2-laser) therapy on vaginal pathophysiology and the symptoms of the Genitourinary Syndrome of Menopause (GSM). METHODS: Postmenopausal women with moderate to severe symptoms of GSM underwent three sessions of CO2-laser therapy at monthly intervals. Participants were evaluated at baseline and 4 weeks after the last treatment. MAIN OUTCOME MEASURES: The primary outcomes were Vaginal Maturation Value (VMV) and Vaginal Health Index Score (VHIS)...
December 2016: Maturitas
https://www.readbyqxmd.com/read/27803827/a-case-of-type-2-youssef-s-syndrome-following-caesarean-section-for-placenta-previa-totalis
#19
Sefa Kurt, Funda Obuz
Vesicouterine fistula is a rare type of urogenital fistulas. It is most commonly observed after cesarean section (C/S) due to iatrogenic reasons. In this article, a case of a vesicouterine fistula which developed after C/S operation is presented. This was the patient's second C/S and this time placenta previa totalis was the primary pathology. Since it is a rare complication, we found it interesting, and, in this article, this clinical problem was discussed with details about diagnosis and treatment in light of the literature...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27745762/-lower-urinary-tract-symptoms-related-to-benign-prostatic-hyperplasia-and-erectile-dysfunction-a-systematic-review
#20
Benoît Peyronnet, Thomas Seisen, Véronique Phé, Vincent Misrai, Alexandre de la Taille, Morgan Rouprêt
AIM: To provide a systematic review of epidemiological data regarding the association between erectile dysfunction (ED) and lower urinary tract symptoms (LUTS) in men. SEARCH STRATEGY: A research has been conducted on the Medline database using the keywords: ("erectile dysfunction" or "sexual dysfunction") and ("benign prostatic hyperplasia" or "lower urinary tract symptoms"). The eligibility of studies was defined using the PICOS method in accordance with the PRISMA statement...
October 10, 2016: La Presse Médicale
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