keyword
MENU ▼
Read by QxMD icon Read
search

urogenital syndrome

keyword
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
#1
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...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28401276/-chronic-pelvic-pain-syndrome-treatment-options-using-osteopathy
#2
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
#3
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 Res
https://www.readbyqxmd.com/read/28393221/chromosome-13q-deletion-syndrome-involving-13q31%C3%A2-qter-a-case-report
#4
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...
April 3, 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
#5
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...
April 5, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28375917/urogenital-symptoms-in-neurologic-patients
#6
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
#7
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
https://www.readbyqxmd.com/read/28365908/spinal-adrenal-cortical-adenoma-associated-with-beckwith-wiedemann-syndrome-case-report-and-review-of-the-literature
#8
Javier Giner, Isabel Esteban, Fernando Carceller, Javier Saceda, R M Regojo
PURPOSE: Ectopic adrenal cortical adenoma in the spinal region is extremely rare. The majority of cases of ectopic adrenocortical tissue are found along the path of embryonic migration within the urogenital tract. Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development, including adrenal lesions. To date, only eight spinal cases have been reported. This is the third reported case in pediatric population, the first one associated with genetic syndrome and the first benign to recur...
April 1, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#9
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
#10
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
#11
REVIEW
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
#12
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
#13
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
#14
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
#15
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
#16
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...
April 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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
113092
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"