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https://www.readbyqxmd.com/read/29334204/detection-of-chlamydia-trachomatis-in-pap-smear-samples-from-south-khorasan-province-of-iran
#1
Davod Javanmard, Mahmoodreza Behravan, Malaknaz Ghannadkafi, Alireza Salehabadi, Masood Ziaee, Mohammad Hasan Namaei
Background: Chlamydia trachomatis (CT), the most common bacterial sexually transmitted infection (STI), leads to pelvic inflammatory disease, infertility and chronic pelvic pain in women as well as an increased risk of vertical transmission, conjunctivitis and pneumonitis in infants. It may also be a co-factor along with human papillomavirus (HPV) in cervical cancer progression. We aimed to determine the prevalence of CT genotypes in genital specimens of women from South Khorasan, Iran and to test the association between CT and cytology statistics...
April 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29330890/audit-of-referrals-for-concern-regarding-labial-appearance-at-the-royal-children-s-hospital-2000-2012
#2
Sarah K McQuillan, Yasmin Jayasinghe, Sonia R Grover
AIM: To audit the clinical features and outcomes for all patients referred to our centre with concerns regarding labial appearance. METHODS: Young females referred to a paediatric/adolescent gynaecology tertiary centre between 2000 and 2012 with concerns regarding their labial appearance were retrospectively identified. Adolescents presenting with anomalies were excluded. Retrospective chart review was undertaken to identify reasons for referral, patient characteristics, outcome of referral and concurrent health problems...
January 13, 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29317407/a20-haploinsufficiency-ha20-clinical-phenotypes-and-disease-course-of-patients-with-a-newly-recognised-nf-kb-mediated-autoinflammatory-disease
#3
Florence A Aeschlimann, Ezgi D Batu, Scott W Canna, Ellen Go, Ahmet Gül, Patrycja Hoffmann, Helen L Leavis, Seza Ozen, Daniella M Schwartz, Deborah L Stone, Annet van Royen-Kerkof, Daniel L Kastner, Ivona Aksentijevich, Ronald M Laxer
OBJECTIVES: The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). METHODS: Data for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms. RESULTS: A total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included...
January 9, 2018: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29315635/association-between-paternal-alcohol-consumption-before-conception-and-anogenital-distance-of-offspring
#4
Ruilan Xia, Longmei Jin, Dekun Li, Hong Liang, Fen Yang, Jianping Chen, Wei Yuan, Maohua Miao
BACKGROUND: There are limited studies on the effects of paternal alcohol consumption, before conception, on the reproductive development of offspring. Anogenital distance (AGD), the distance from the center of the anus to the genitals, is a sensitive biomarker of reproductive hormone abnormalities during the critical developmental window. The relationship between paternal alcohol consumption and AGD of human offspring has not been studied yet. METHODS: This cohort study included 1,292 pregnant women recruited in Shanghai...
January 6, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29311329/dysregulation-of-cotranscriptional-alternative-splicing-underlies-charge-syndrome
#5
Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, Guillaume Bernas, Philippe M Campeau, Seema R Lalani, Donna M Martin, Stephanie Bielas, Amanda Moccia, Anshika Srivastava, David W Silversides, Nicolas Pilon
CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in CHD7 (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible for CHD7 mutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29278518/identification-of-an-ar-mutation-in-klinefelter-syndrome-during-evaluation-for-penoscrotal-hypospadias
#6
Sezer Acar, Hale Tuhan, Elçin Bora, Korcan Demir, Hüseyin Onay, Derya Erçal, Ece Böber, Ayhan Abacı
Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia...
July 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29259388/genital-tract-infections-in-an-isolated-community-100-women-of-the-pr%C3%A3-ncipe-island
#7
Pedro Vieira-Baptista, Svitrigaile Grinceviciene, Gert Bellen, Carlos Sousa, Conceição Saldanha, Davy Vanden Broeck, John-Paul Bogers, Gilbert Donders
Objective: To characterize the vaginal microbiome and the rate of sexually transmitted infections (STIs) in the women of Príncipe (São Tomé and Príncipe). Methods: Cross-sectional study of 100 consecutive women, invited for a free appointment and cervical cancer screening. A vaginal slide (wet mount microscopy) and a cervical sample (ThinPrep®) (Pap test, high risk human papillomavirus [HR-HPV], N. gonorrhea [NG], T. vaginalis [TV], and C. trachomatis [CT]) were obtained...
2017: Infectious Diseases in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29240636/the-etiology-of-genital-ulcer-disease-and-coinfections-with-chlamydia-trachomatis-and-neisseria-gonorrhoeae-in-zimbabwe-results-from-the-zimbabwe-sti-etiology-study
#8
More Mungati, Anna Machiha, Owen Mugurungi, Mufuta Tshimanga, Peter H Kilmarx, Justice Nyakura, Gerald Shambira, Vitalis Kupara, David A Lewis, Elizabeth Gonese, Beth A Tippett Barr, H Hunter Handsfield, Cornelis A Rietmeijer
BACKGROUND: In many countries, sexually transmitted infections (STIs) are treated syndromically. Thus, patients diagnosed as having genital ulcer disease (GUD) in Zimbabwe receive a combination of antimicrobials to treat syphilis, chancroid, lymphogranuloma venereum (LGV), and genital herpes. Periodic studies are necessary to assess the current etiology of GUD and assure the appropriateness of current treatment guidelines. MATERIALS AND METHODS: We selected 6 geographically diverse clinics in Zimbabwe serving high numbers of STI cases to enroll men and women with STI syndromes, including GUD...
January 2018: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/29226760/the-diagnostic-performance-of-the-beta-glucan-assay-in-the-detection-of-intra-amniotic-infection-with-candida-species
#9
Percy Pacora, Roberto Romero, Offer Erez, Eli Maymon, Bogdan Panaitescu, Juan Pedro Kusanovic, Adi L Tarca, Chaur-Dong Hsu, Sonia S Hassan
INTRODUCTION: A bioassay based on the detection of beta-glucan, a constituent of the cell wall of fungi, has been successfully used to diagnose fungal infections in a variety of biological fluids but not yet in the amniotic fluid. OBJECTIVE: To determine the diagnostic performance of a beta-glucan bioassay in the detection of Candida species in the amniotic fluid. METHODS: The study population comprised women who had a singleton pregnancy without congenital or chromosomal abnormalities, who experienced preterm labor or preterm prelabor rupture of the fetal membranes, and who underwent transabdominal amniocentesis for clinical indications...
December 10, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29223670/cystourethroscopy-versus-contrast-studies-in-urogenital-sinus-and-cloacal-anomalies-in-children
#10
Khaled Ashour, Sameh Shehata, Ahmed Osheba
BACKGROUND: Cloacal malformation is a spectrum of diseases affecting females, resulting in abnormal confluence of the urinary system, genital system, and/or gastrointestinal system. Proper reconstruction depends mainly on accurate preoperative illustration of the abnormal anatomy. Among the various modalities to delineate the urogenital sinus and the distances to confluence, lies the radiological contrast study, as well as the preoperative diagnostic cystourethroscopy. AIM OF THE STUDY: The aim of this study was to compare the accuracy of the contrast study and diagnostic cystourethroscopy in the demonstration of the exact changes in anatomy resulting from urogenital sinus / cloacal abnormalities...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29204238/crossed-fused-renal-ectopia-case-report-and-review-of-the-literature
#11
Anna Mudoni, Francesco Caccetta, Maurizio Caroppo, Fernando Musio, Antonella Accogli, Maria Dolores Zacheo, Maria Domenica Burzo, Vitale Nuzzo
Crossed fused renal ectopia is a rare congenital anomaly, and is mostly detected incidentally. A 45-year-old man, during investigation for recurrent abdominal pain, was found to have an empty left renal fossa and right crossed renal ectopia with fusion on ultrasonography. In the present case, there were no abnormalities and/or alteration of the renal function. Abdominal tomography scan with contrast medium confirmed the diagnosis. Ectopic kidney is often associated with other abnormal situations such as agenesis, vascular malformation, incontinence, a palpable abdominal mass, urinary tract infection, high incidence of stone formation, and genital anomalies...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29201065/a-medical-calculator-to-determine-testicular-volumes-matching-ultrasound-values-from-the-width-of-the-testis-obtained-in-the-scrotum-with-a-centimeter-ruler
#12
Juan F Sotos, Naomi J Tokar
The determination of the testicular volume is of considerable importance to assess the onset, progression and disorders of puberty, abnormal testicular development, and a number of other conditions; and in adults, assessment of fertility. A number of clinical methods have been used for the measurement of testicular volumes in the scrotum: a centimeter ruler, sliding calipers, and orchidometers. All the clinical methods calculate the volumes by the ellipsoid equation, grossly overestimate ultrasound (US) volumes by 70 to 80% for adults, to 150 to 250% for prepubertal subjects, mainly because the inclusion of the scrotal skin and epididymis and may not be accurate of reproducible...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29195026/effects-of-the-insulin-like-growth-factor-system-on-testicular-differentiation-and-function-a-review-of-the-literature
#13
REVIEW
R Cannarella, R A Condorelli, S La Vignera, A E Calogero
We recently described the occurrence of cryptorchidism, oligoasthenoteratozoospermia, and genital abnormalities in patients with distal 15q chromosome structural abnormalities. This observation brought us to hypothesize that insulin-like growth factor (IGF) receptor (IGF1R), mapping on the 15q 26.3 chromosomal band, may be involved in testicular function. To further evaluate this topic, we reviewed in vitro and in vivo studies exploring the role of the IGF system [IGF1, IGF2, IGF1R, insulin receptor substrates (IRS)] at the testicular level both in animals and in humans...
December 1, 2017: Andrology
https://www.readbyqxmd.com/read/29179868/prevalence-and-correlates-of-cervical-hpv-infection-in-a-clinic-based-sample-of-hiv-positive-hispanic-women
#14
A P Ortiz, V Tamayo, A Scorsone, M Soto-Salgado, I Febo, P Piovanetti, H L Venegas-Ríos, Y Yamamura, C Zorrilla
OBJECTIVES: Puerto Rico (PR), is the fifth highest jurisdiction of the United States of America (US) with respect to HIV prevalence and the leading in cervical cancer incidence. This cross-sectional study describes the prevalence and correlates of cervical HPV infection among a clinic-based sample of 302 women living with HIV/AIDS in PR. METHODS: Data collection included questionnaires, blood and cervical samples. Multivariable logistic regression models were used to estimate the magnitude of association (adjusted Prevalence odds ratio [aPOR]) between HPV cervical infection and other covariates...
December 2017: Papillomavirus Research
https://www.readbyqxmd.com/read/29177237/the-etiologies-of-dna-abnormalities-in-male-infertility-an-assessment-and-review
#15
REVIEW
Soheila Pourmasumi, Parvin Sabeti, Tahereh Rahiminia, Esmat Mangoli, Nasim Tabibnejad, Ali Reza Talebi
The sperm DNA damage may occur in testis, genital ducts, and also after ejaculation. Mechanisms altering chromatin remodeling are abortive apoptosis and oxidative stress resulting from reactive oxygen species. Three classifications of intratesticular, post-testicular, and external factors have been correlated with increased levels of human sperm DNA damage which can affect the potential of fertility. Lifestyle, environment, medical, and iatrogenic factors might be considered to cause dysmetabolism to make distracting interactions and endocrine disrupting compounds...
June 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://www.readbyqxmd.com/read/29168327/distinct-cerebellar-foliation-anomalies-in-a-chd7-haploinsufficient-mouse-model-of-charge-syndrome
#16
Danielle E Whittaker, Sahrunizam Kasah, Alex P A Donovan, Jacob Ellegood, Kimberley L H Riegman, Holger A Volk, Imelda McGonnell, Jason P Lerch, M Albert Basson
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29166928/effects-of-long-term-weekly-iron-and-folic-acid-supplementation-on-lower-genital-tract-infection-a-double-blind-randomised-controlled-trial-in-burkina-faso
#17
Loretta Brabin, Stephen A Roberts, Sabine Gies, Andrew Nelson, Salou Diallo, Christopher J Stewart, Adama Kazienga, Julia Birtles, Sayouba Ouedraogo, Yves Claeys, Halidou Tinto, Umberto d'Alessandro, E Brian Faragher, Bernard Brabin
BACKGROUND: Provision of routine iron supplements to prevent anaemia could increase the risk for lower genital tract infections as virulence of some pathogens depends on iron availability. This trial in Burkina Faso assessed whether weekly periconceptional iron supplementation increased the risk of lower genital tract infection in young non-pregnant and pregnant women. METHODS: Genital tract infections were assessed within a double blind, controlled, non-inferiority trial of malaria risk among nulliparous women, randomised to receive either iron and folic acid or folic acid alone, weekly, under direct observation for 18 months...
November 23, 2017: BMC Medicine
https://www.readbyqxmd.com/read/29158370/ovarian-and-uterine-functions-in-female-survivors-of-childhood-cancers
#18
REVIEW
Ozgur Oktem, Samuel S Kim, Ugur Selek, Glenn Schatmann, Bulent Urman
Adult survivors of childhood cancers are more prone to developing poor reproductive and obstetrical outcomes than their siblings and the general population as a result of previous exposure to chemotherapy and radiation during childhood. Chemotherapy drugs exert cytotoxic effects systemically and therefore can damage the ovaries, leading to infertility, premature ovarian failure, and, to a lesser extent, spontaneous abortions. They have very limited or no deleterious effects on the uterus that can be recognized clinically...
November 20, 2017: Oncologist
https://www.readbyqxmd.com/read/29082726/-differential-diagnosis-and-management-of-abnormal-uterine-bleeding-in-adolescence
#19
Tiziano Motta, Antonio S Laganà, Gaetano Valenti, Valentina L LA Rosa, Marco Noventa, Amerigo Vitagliano, Benito Chiofalo, Agnese M Rapisarda, Diego Rossetti, Salvatore G Vitale
Abnormal uterine bleeding (AUB) is defined as any atypical genital bleeding originating from the uterine cavity, without the characteristics of normal menstrual period. AUB is an important symptom both for adolescents and their parents, and it usually leads to a state of anxiety. Although about 95% of AUB could be considered as a dysfunctional disorder, AUB requires well-defined diagnostic procedures in order to detect a physical cause, ruling out complex or systemic diseases, including oncological ones. Diagnostic procedures require the acquisition of a full and detailed history, and it is also crucial to obtain as much compliance from the patient as possible...
December 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/29082625/charged-with-neural-crest-defects
#20
REVIEW
Silke Pauli, Ruchi Bajpai, Annette Borchers
Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest-derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established a role of CHD7 in neural crest development...
October 30, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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