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https://www.readbyqxmd.com/read/28088311/prevalence-of-preoperative-penile-abnormalities-among-voluntary-male-medical-circumcision-patients-in-swaziland
#1
Anthony R Oddo, Elizabeth Ruedrich, Christopher Zust, Lindsey Marugg, Echo VanderWal, Harry VanderWal, Rebekah Sartori, Ronald Markert, Mary C McCarthy
BACKGROUND: Circumcision has been found to be an effective strategy for lowering the transmission of HIV in Africa. The Luke Commission, a mobile hospital outreach program, has used this information to decrease the rate of HIV in Swaziland by performing voluntary male medical circumcisions throughout the country. During many of these circumcisions, genital medical conditions and penile abnormalities are simultaneously discovered and corrected. PURPOSE: The goal of our study was to evaluate the prevalence of penile abnormalities discovered and treated during voluntary male medical circumcisions performed by The Luke Commission (TLC) throughout rural Swaziland...
January 3, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28081536/wt1-haploinsufficiency-supports-milder-renal-manifestation-in-two-patients-with-denys-drash-syndrome
#2
Mara S Guaragna, Juliana G Ribeiro de Andrade, Bárbara de Freitas Carli, Vera M S Belangero, Andréa T Maciel-Guerra, Gil Guerra-Júnior, Maricilda P de Mello
Denys-Drash syndrome (DDS) is characterized by nephropathy, genital abnormalities, and predisposition to Wilms' tumor. DDS patients usually present heterozygous de novo germline WT1 mutations. The WT1 gene comprises 10 exons encoding the N-terminal transactivation and the C-terminal DNA-binding regions. Two unrelated patients with genital ambiguity and Wilms' tumor were analyzed by sequencing of the WT1 gene, and 3 mutations in exon 1 were identified of which 2 are novel. Patient 1 carried a c.555delC mutation that causes a frameshift and a premature stop codon...
January 13, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28074107/frequency-of-chlamydia-trachomatis-infection-in-cervical-intraepithelial-lesions-and-the-status-of-cytological-p16-ki-67-dual-staining
#3
R Robial, A Longatto-Filho, C M Roteli-Martins, M F Silveira, D Stauffert, G G Ribeiro, I M Linhares, M Tacla, M A Zonta, E C Baracat
BACKGROUND: Chlamydia trachomatis (Ct) is not a disease subject to mandatory reporting in Brazil, and the prevalence rate of this genital infection varies according to the region in which studies are conducted, as well as by the detection technique employed. Ct has been associated with persistence of Human papillomavirus (HPV) infection and the facilitation of cervical carcinoma development. We evaluated the Chlamydia trachomatis infection and its association with cytology, p16/Ki-67 dual-stained cytology and cervical intraepithelial lesions status in a screening cohort in Brazil...
2017: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/28059674/coronal-clival-cleft-in-charge-syndrome
#4
Eman Mahdi, Matthew T Whitehead
CHARGE syndrome is a genetic disorder with multi-systemic congenital anomalies, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome has been refined over the years. However, there are limited reports describing skullbase and craniocervical junction abnormalities. These osseous malformations are often under recognized, especially on MRI. We report here a case of CHARGE syndrome with colobomas, cleft lip and palate, patent ductus arteriosus, undescended testes, and a coronal clival cleft which has not been previously depicted in CHARGE syndrome...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28033262/primary-pulmonary-choriocarcinoma-in-a-male-that-was-successfully-diagnosed-and-treated-a-case-report-and-review-of-the-literature
#5
Ran Zhu, Congwei Jia, Jie Yan, Yufeng Luo, Zhen Huo
INTRODUCTION: Primary pulmonary choriocarcinoma (PPC) is extremely rare, especially in males. It is characterized by a poor response to therapy and shortened survival times. Here, we report a successful diagnosis and modified treatment for PPC in a male and a review of the literature. CASE PRESENTATION: This case report describes a 67-year-old male who was discovered to have a left pulmonary mass. The patient underwent a pulmonary lobectomy. Pathological examination showed a poorly biphasic differential tumor...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28027612/nonobliteration-of-the-processus-vaginalis-sonography-of-related-abnormalities-in-children
#6
Vasileios Rafailidis, Sotirios Varelas, Foteini Apostolopoulou, Dimitrios Rafailidis
The objective of this pictorial essay is to systematically classify processus vaginalis-related disorders in the light of embryology and present illustrative sonograms with corresponding diagrams. Failure of the processus vaginalis to obliterate during gestation results in a wide spectrum of anomalies, including communicating and noncommunicating hydroceles and inguinal and inguinoscrotal hernias, along with other related disorders of the genital system. There are varying classifications in the literature regarding the aforementioned entities...
April 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28018429/408-cases-of-genital-ambiguity-followed-by-single-multidisciplinary-team-during-23-years-etiologic-diagnosis-and-sex-of-rearing
#7
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations...
2016: International Journal of Endocrinology
https://www.readbyqxmd.com/read/27989796/altered-sox9-genital-tubercle-enhancer-region-in-hypospadias
#8
REVIEW
Rajini Sreenivasan, Christopher T Gordon, Sabina Benko, Robb de Iongh, Stefan Bagheri-Fam, Stanislas Lyonnet, Vincent Harley
Human mutations in the SOX9 gene or its regulatory region can disrupt testicular development, leading to disorders of sex development (DSDs). Our previous work involving the genomic analysis of isolated DSD patients revealed a 78kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. It was postulated that RevSex contains a gonadal enhancer. However, the most highly conserved sub-region within RevSex, called SR4, was neither responsive to sex determining factors in vitro nor active in the gonads of transgenic mice, suggesting that SR4 may not be functioning as a testicular enhancer...
October 28, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#9
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27941184/should-we-be-more-aware-of-endometrial-cancer-in-adolescents
#10
Krzysztof Gałczyński, Łukasz Nowakowski, Tomasz Rechberger, Andrzej Semczuk
Although endometrial cancer is generally diagnosed in women after menopause, it may incidentally develop in young women or even in adolescents. Diagnostic tools should be applied in young teenage girls complaining of abnormal genital bleeding, particularly those with hereditary cancer syndromes (such as Cowden or Lynch syndromes). Adolescents affected by polycystic ovary syndrome and obesity may also be at increased risk for the development of atypical endometrial hyperplasia and endometrial cancer, and should be carefully managed when the distressing symptoms occur...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27927095/genital-autocleaning-in-the-male-cricket-gryllus-bimaculatus-1-structure-and-function-of-the-genital-membrane
#11
Mikihiko Kumashiro, Masaki Sakai
We found that the genitalia of the male cricket Gryllus bimaculatus are equipped with an autocleaning system. The cricket keeps its genitalia clean by removing foreign matter and endogenous waste. Morphological study showed that the membrane complex consists of a median pouch and a genital chamber floor covered by small scales, each of which has a base of approximately 10 µm in width and a fringe with 5-10 spines 3-20 µm in length. The scales are arranged symmetrically about the midline, curving gradually in the lateral direction and continuing to the lateral pouch serving as a trash container...
December 2016: Zoological Science
https://www.readbyqxmd.com/read/27925677/prenatal-anogenital-distance-is-shorter-in-fetuses-with-hypospadias
#12
Yinon Gilboa, Sharon Perlman, Zvi Kivilevitch, Baruch Messing, Reuven Achiron
OBJECTIVES: Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies...
January 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27921005/primary-tuberculosis-of-cervix-a-coincidental-finding
#13
Nalini Sharma, Ahanthem Santa Singh, Yookarin Khonglah, Jaya Mishra
BACKGROUND: 95% of Tuberculosis (TB) of the female genital tract (FGT) is located in tissues other than the cervix. A rare case of primary TB of the cervix which was diagnosed coincidently in a patient of endometrioma was reported in this study. CASE PRESENTATION: A 34 year old nullipara, a diagnosed case of endometrioma had a small cervical growth. Pap smear and biopsy was taken and sent for histopathological examination. Her histopathological examination revealed multiple epitheloid cell granuloma and langerhans type giant cell caeseation...
October 2016: Journal of Reproduction & Infertility
https://www.readbyqxmd.com/read/27887710/supplementation-with-progestogens-in-the-first-trimester-of-pregnancy-to-prevent-miscarriage-in-women-with-unexplained-recurrent-miscarriage-a-systematic-review-and-meta-analysis-of-randomized-controlled-trials
#14
Gabriele Saccone, Corina Schoen, Jason M Franasiak, Richard T Scott, Vincenzo Berghella
OBJECTIVE: To investigate whether treatment with progestogens in the first trimester of pregnancy would decrease the incidence of miscarriage in women with a history of unexplained recurrent miscarriage. DESIGN: Systematic review and meta-analysis. SETTING: Not applicable. PATIENT(S): Women with a history of unexplained recurrent miscarriage. INTERVENTION(S): Randomized, controlled trials were identified by searching electronic databases...
November 22, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27882232/metastatic-gastric-cancer-to-the-female-genital-tract
#15
Hiroshi Matsushita, Kazushi Watanabe, Akihiko Wakatsuki
Metastases to the female genital tract from gastric cancer are rare, but they significantly worsen the prognosis of such patients. The potential routes for metastasis to the female genital tract from gastric cancer include hematogenous spread, lymphatic spread and surface implantation. The rate of lymphatic metastasis to the ovary from gastric cancer has been reported to be higher compared with that from colorectal cancer. Uterine or Fallopian tube metastases are usually secondary to ovarian metastases, which are typically identified prior to the detection of gastric cancer in half of all synchronous cases, with complaints of abdominal distention, pain, palpable mass, or abnormal uterine bleeding...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27881329/oral-features-and-computerized-rehabilitation-of-a-young-patient-with-charge-syndrome-using-minimally-invasive-long-term-interim-cad-cam-restorations
#16
Anja Liebermann, Caroline Freitas Rafael, Daniel Edelhoff, Marc Ramberger, Josef Schweiger, Claudia Angela Maziero Volpato, Reza Saeidi Pour
Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies. Their treatment depends on the specific type of manifestation. To perform the complex oral rehabilitation and achieve a conservative, esthetic, and functional exploration of the definitive treatment goal, computer-aided design and computer-aided manufacturing (CAD-CAM) polymers can be used as long-term interim restorations...
October 27, 2016: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/27862890/de-novo-microdeletions-and-point-mutations-affecting-sox2-in-three-individuals-with-intellectual-disability-but-without-major-eye-malformations
#17
Nicola Dennert, Hartmut Engels, Kirsten Cremer, Jessica Becker, Eva Wohlleber, Beate Albrecht, Julia K Ehret, Hermann-Josef Lüdecke, Mohnish Suri, Giulia Carignani, Alessandra Renieri, Guido M Kukuk, Thomas Wieland, Joris Andrieux, Tim M Strom, Dagmar Wieczorek, Anne Dieux-Coëslier, Alexander M Zink
Loss-of-function mutations and deletions of the SOX2 gene are known to cause uni- and bilateral anophthalmia and microphthalmia as well as related disorders such as anophthalmia-esophageal-genital syndrome. Thus, anophthalmia/microphthalmia is the primary indication for targeted, "phenotype first" analyses of SOX2. However, SOX2 mutations are also associated with a wide range of non-ocular abnormalities, such as postnatal growth retardation, structural brain anomalies, hypogenitalism, and developmental delay...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27858857/primary-amenorrhea-after-bone-marrow-transplantation-and-adjuvant-chemotherapy-misdiagnosed-as-disorder-of-sex-development-a-case-report
#18
He Huang, Qinjie Tian
INTRODUCTION: Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. Majority of patients present clinical characteristics of primary amenorrhea, absent secondary sex characters, and abnormal hormone level. A female appearance patient with primary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We report the case of an 18-year-old girl with primary amenorrhea and 46 XY karyotype misdiagnosed as Y-chromosome-related DSD...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27856158/abnormal-vaginal-bleeding-in-women-with-gynaecological-malignancies
#19
REVIEW
Tracey Adams, Lynette Denny
Abnormal vaginal bleeding is a common gynaecological symptom, and most causes are benign. International Federation of Gynaecology and Obstetrics proposed a PALM-COEIN classification in 2011 to decrease heterogeneity in studies. The gynaecological malignancies that present with abnormal bleeding vary according to the age of the patient and the origin (upper versus lower genital tract). It is important that a thorough history and examination is performed to make this distinction. The common malignancies presenting symptoms and treatment are discussed in this article according to the age of the patient...
October 26, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/27854250/association-of-urogenital-symptoms-with-history-of-water-contact-in-young-women-in-areas-endemic-for-s-haematobium-a-cross-sectional-study-in-rural-south-africa
#20
Hashini Nilushika Galappaththi-Arachchige, Ingrid Elise Amlie Hegertun, Sigve Holmen, Erik Qvigstad, Elisabeth Kleppa, Motshedisi Sebitloane, Patricia Doris Ndhlovu, Birgitte Jyding Vennervald, Svein Gunnar Gundersen, Myra Taylor, Eyrun Floerecke Kjetland
Female genital schistosomiasis is a neglected tropical disease caused by Schistosoma haematobium. Infected females may suffer from symptoms mimicking sexually transmitted infections. We explored if self-reported history of unsafe water contact could be used as a simple predictor of genital schistosomiasis. In a cross-sectional study in rural South Africa, 883 sexually active women aged 16-22 years were included. Questions were asked about urogenital symptoms and water contact history. Urine samples were tested for S...
November 14, 2016: International Journal of Environmental Research and Public Health
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