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Genital abnormality

Tim B van der Houwen, P Martin van Hagen, Wilhemina M C Timmermans, Sophinus J W Bartol, King H Lam, Jasper H Kappen, Menno C van Zelm, Jan A M van Laar
OBJECTIVES: Behçet's disease (BD), an auto-inflammatory vasculitis with oro-genital ulcerations, skin lesions and uveitis, is regarded as T cell mediated. A successful trial with rituximab suggests an additive role for B cells in the pathogenesis. Therefore, we studied B cell abnormalities in BD patients and the effect of TNF-blocking therapy. METHODS: B cells in blood (n = 36) and tissue (n = 6) of BD patients were analysed with flow cytometry and/or immunohistochemistry and compared with healthy controls (n = 22)...
October 15, 2016: Rheumatology
Floor Hinten, Luuk B Hilbrands, Kim A Meeuwis, Muriël C van Bergen-Verkuyten, Brigitte F Slangen, Michelle M van Rossum, Janette Rahamat-Langendoen, Leon F Massuger, Joanne A de Hullu, Willem J Melchers
OBJECTIVES: Female renal transplant recipients (RTRs) have increased risk for developing human papillomavirus (HPV)-related (pre)malignancies of the lower genital tract. Annual cervical screening is advised for RTRs, but the participation rate is low. The aim of this study is to investigate whether HPV self-sampling is suitable for gynecological screening of RTRs to increase participation rate. METHODS: A large cohort of 253 RTRs was investigated for the prevalence of HPV...
October 12, 2016: Journal of Lower Genital Tract Disease
Tulio M Prado, Lionel J Dawson, Jim Schumacher
Reproductive surgical techniques are considered by practitioners of theriogenology to be the best method to manage infertility-causing conditions or diseases of the bull. Injury or diseases of the reproductive tract may cause abnormalities that may result in substantial losses to the producers of beef and dairy cattle. The most cost-effective method of dealing with reproductive conditions or diseases of the bull is culling and replacement. Some injuries, diseases, or conditions are amenable to surgical management...
November 2016: Veterinary Clinics of North America. Food Animal Practice
Michael J Nathenson, Vinod Ravi, Nicole Fleming, Wei-Lien Wang, Anthony Conley
Adenosarcomas are rare malignancies of the female genital tract, accounting for approximately 5 % of uterine sarcomas. Occasionally, adenosarcoma occurs in the ovaries or in extra-uterine tissue, which may be related to endometriosis. These tumors are characterized by benign epithelial elements and a malignant mesenchymal component. Pathologic diagnosis is dependent on the identification of the characteristic morphologic features. The most common immunohistochemical markers for adenosarcoma are CD10 and WT1, but these are not specific...
November 2016: Current Oncology Reports
Hannah Cohen, Deepa R J Arachchillage, Jan Beyer-Westendorf, Saskia Middeldorp, Rezan A Kadir
Direct oral anticoagulants (DOACs) provide an effective, safe, and convenient therapeutic alternative to warfarin and other vitamin K antagonists (VKAs), and are now established for a wide range of indications. The use of DOACs in women merits special consideration due to two main situations: first, in relation to fertility, pregnancy, and lactation in women of reproductive age; second, because of their bleeding risk, leading to abnormal uterine and/or other genital tract bleeding. This review focuses on these two clinical situations, including approaches to management in the context of available information...
October 5, 2016: Seminars in Thrombosis and Hemostasis
Maryam Sadat Hosseini, Tahereh Ashrafganjoei, Ainaz Sourati, Morteza Tabatabeifar, Mahdiss Mohamadianamiri
INTRODUCTION: Rhabdomyosarcoma has known as a highly malignant soft tissue sarcoma. It has been the most common soft tissue sarcoma in childhood, accounting for about 3 to 4 % of all cases of childhood cancer. Rhabdomyosarcoma was rare in adults, accounting for 3% of all soft-tissue sarcomas. embryonal rhabdomyosarcoma of female genital tract including uterine cervix in an adult was rare. CASE PRESENTATION: This study has reported a 33-year-old woman presented with abnormal vaginal discharge...
June 2016: Iranian Journal of Cancer Prevention
Gian Mario Tiboni, Adalisa Ponzano
Aromatase inhibitors (AIs) are a class of drugs that act by blocking the production of estrogens from androgens. The current review concentrates on the prenatal developmental toxicity of AIs in experimental models. Available data indicate that AIs may affect pregnancy at human therapeutic or lower doses. The window of vulnerability to AIs is not limited to organogenesis, but also includes the preimplantation stage and fetal periods. Decreased embryo/fetal survival was the prominent treatment-related effect...
September 30, 2016: Reproductive Toxicology
H Suzuki, S Matsushita, K Suzuki, G Yamada
Androgen is an essential factor involved in masculinization of external genitalia. Failure of the exposure to 5α-dihydrotestosterone (DHT) causes a hypoplastic penile size and urethral abnormality. The main pathology of hypospadias is defective urethral closure on the ventral side of the penis. Hormone-dependent genes are suggested as the causative factors. However, the detailed mechanisms of DHT functions on urethral tube formation remain unknown. Androgen is both a positive and negative regulator of cell proliferation...
October 1, 2016: Andrology
Pentti K Heinonen
OBJECTIVE: This study assessed the distribution of Müllerian duct anomalies in two verified classifications of female genital tract malformations, and the presence of associated renal defects. STUDY DESIGN: 621 women with confirmed female genital tract anomalies were retrospectively grouped under the European (ESHRE/ESGE) and the American (AFS) classification. The diagnosis of uterine malformation was based on findings in hysterosalpingography, two-dimensional ultrasonography, endoscopies, laparotomy, cesarean section and magnetic resonance imaging in 97...
September 20, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Elisa Maseroli, Egidia Fanni, Sarah Cipriani, Irene Scavello, Francesca Pampaloni, Cesare Battaglia, Massimiliano Fambrini, Edoardo Mannucci, Emmanuele A Jannini, Mario Maggi, Linda Vignozzi
INTRODUCTION: The relation between sexual and cardiovascular health in women is not well defined. Clitoral color Doppler ultrasound (CDU) with assessment of the pulsatility index (PI), reflecting resistance to blood flow, has been proposed as an objective measurement of sexual functioning. AIM: To investigate associations between clitoral PI and cardiometabolic risk factors, sexual and intrapsychic parameters, and self-perception of body image. METHODS: Seventy-one adult heterosexual women in a stable relationship attending our clinic for sexual dysfunction were consecutively recruited...
September 27, 2016: Journal of Sexual Medicine
Charalampos Theofanakis, Nikolaos Thomakos, Maria Sotiropoulou, Alexandros Rodolakis
INTRODUCTION: Perivascular Epithelioid Cell tumor (PEComa) is a rare neoplasm of mesenchymal origin, with the uterus being the most common site of appearance, regarding the female genital tract. CASE REPORT: We present two cases of PEComas of the uterus in patients aged 57 and 42-years-old, presented to our department with palpable abdominal masses and abnormal vaginal bleeding. During follow up period, both patients are free of recurrent disease one and two years after surgery, respectively, without receiving any adjuvant treatment...
September 24, 2016: International Journal of Surgery Case Reports
Alpana Singh, Garima Vats, A G Radhika, Pragati Meena, Gita Radhakrisnan
Xanthogranuloma is a non-neoplastic presentation of chronic inflammation commonly seen in gallbladder, kidney and rarely seen in genital organs. Only one case has been reported in cervix. Here, we report a case of 60-year-old postmenopausal lady who presented with history of fever and purulent discharge per-vaginum. On speculum examination, cervix had an ulcer extending from 3 to 5 o'clock position. Uterus was bulky. On probing the ulcer, a 1-cm deep sinus was identified. Ultrasound showed enlarged uterus and fluid collection suggestive of pyometra...
September 2016: Obstetrics & Gynecology Science
Inas A Mazen
This article reviews the literature on intersexuality (disorders of sex development [DSD]) and transsexuality in Egypt. Egypt's resources for the diagnosis and treatment of rare conditions, such as DSD and transsexualism, are quite limited. The birth of a child with a DSD is likely to be stressful, especially in regard to decisions on gender assignment, and genital abnormalities are associated with stigma and shame. Gender assignment may be biased toward the male gender, because female infertility precludes marriage and female gender adversely affects employment prospects and inheritance...
September 20, 2016: Archives of Sexual Behavior
Qi Li, Lei Wang, Shinong Pan, Hong Shu, Ying Ma, Zaiming Lu, Xihu Fu, Bo Jiang, Qiyong Guo
AIM OF THE STUDY: To investigate the magnetic resonance imaging (MRI) features of skeletal muscle metastases (SMM). MATERIAL AND METHODS: The records of 31 patients with proven SMM were retrospectively reviewed. Clinical history, type of primary malignancy, location of metastases, and MRI features of SMM were evaluated. Based on MRI findings, SMM were divided into three MRI types. The correlation between MRI types with ages and pathology category, between MRI types of SMM and ages, as well as MRI types of SMM and pathology category were analysed with Spearman's rho...
2016: Contemporary Oncology Współczesna Onkologia
Shun Zhang, Qing-Ming Wang, Xian-Ping Ding, Tao Wang, Xue-Mei Mu, Zu-Yi Chen
PURPOSE: Idiopathic Asthenozoospermia (AZS) is a common symptom of male infertility described as reduced forward motility or absence of sperm motility. The PATE1 is generally expressed in male genital tract and related to sperm development, maturation and fertilization. However, the single nucleotide polymorphisms (SNPs) of the PATE1 gene which contribute to AZS were still unknown. For this reason, the possible association between the single nucleotide polymorphisms of the PATE1 gene and idiopathic asthenozoospermia was investigated in this research...
September 1, 2016: Journal of Reproductive Immunology
R El-Khairi, L Vallier
Heterozygous mutations in the gene that encodes the transcription factor hepatocyte nuclear factor 1β (HNF1B) result in a multi-system disorder. HNF1B was initially discovered as a monogenic diabetes gene; however, renal cysts are the most frequently detected feature. Other clinical features include pancreatic hypoplasia and exocrine insufficiency, genital tract malformations, abnormal liver function, cholestasis and early-onset gout. Heterozygous mutations and complete gene deletions in HNF1B each account for approximately 50% of all cases of HNF1B-associated disease and may show autosomal dominant inheritance or arise spontaneously...
September 2016: Diabetes, Obesity & Metabolism
Gabriella Gazdagh, Edward S Tobias, S Faisal Ahmed, Ruth McGowan
A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and genotypic data from the UK-wide Deciphering Developmental Disorders (DDD) study. Our objectives were to determine the frequency and range of DSD phenotypes observed in participants in the DDD study and to identify novel genetic associations. We found that of 7,439 DDD participants, 603 (8%) had at least one genital abnormality...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Hideharu Hashimoto, Xing Zhang, Yu Zheng, Geoffrey G Wilson, Xiaodong Cheng
Mutations in human zinc-finger transcription factor WT1 result in abnormal development of the kidneys and genitalia and an array of pediatric problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance. Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). These conditions vary in severity from individual to individual; they can be fatal in early childhood, or relatively benign into adulthood...
September 4, 2016: Nucleic Acids Research
Jacques C Giltay, Aart J Klijn, Tom P V M de Jong, Peter Kats, Marjolijn van Breugel, Susan Lens, Martijn Vromans, Lars T van der Veken, Ron Hochstenbach
Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with severe penoscrotal hypospadias and a coloboma of the left eye but with normal growth, normal psychomotor development, and without dysmorphisms. We considered a local, mosaic sex chromosomal aneuploidy as a possible cause of his genital anomaly and performed karyotyping in cultured fibroblasts from the genital skin, obtained during surgical correction...
July 2016: Molecular Syndromology
Rachel Heslop, Helen Roberts, Deralie Flower, Vanessa Jordan
BACKGROUND: Genital herpes is incurable, and is caused by the herpes simplex virus (HSV). First-episode genital herpes is the first clinical presentation of herpes that a person experiences. Current treatment is based around viral suppression in order to decrease the length and severity of the episode. OBJECTIVES: To determine the effectiveness and safety of the different existing treatments for first-episode genital herpes on the duration of symptoms and time to recurrence...
2016: Cochrane Database of Systematic Reviews
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