Search results for "female genital diseases and pregnancy complications"
showing 10 items of 310 documents
The von Hippel-Lindau tumor suppressor gene
1997
Abstract The von Hippel-Lindau (VHL) disease is an inherited tumor susceptibility syndrome featuring a high variety of benign and malignant tumors. The gene has been localized and cloned at 3p25-26. Recent functional analysis defined the VHL gene product as an inhibitor of the transcription elongation process. Its possible involvement in the vascularization process may explain the histologic features of VHL tumors providing insight into basic mechanism of tumorigenesis. Direct genetic testing is available for patients affected with VHL. Seventy to eighty percent of the germline mutations expected could be detected. As first geno/phenotype correlations have been established, we are now begin…
Mutational analysis ofBRCA1andBRCA2in Mediterranean Spanish women with early-onset breast cancer: Identification of three novel pathogenic mutations
2003
In Spain, the contribution of BRCA mutations to the population incidence of early-onset breast cancer was unknown. We carried out a mutational analysis of the BRCA1 and BRCA2 genes in 124 Spanish women diagnosed with breast cancer before the age 41 and who were not selected for a family history of this disease. The genetic study was performed by PCR-SSCP analysis and DNA sequencing. We identified 6 pathogenic BRCA mutations in 7 unrelated probands (5.6%; 95% CI=2.3% to 11.3%): 1 BRCA1 (c.2080delA) and 5 BRCA2 (p.Y3006X, p.Q1994X, c.9204_9217del14, c.9254_9258del5 and c.295+2T>C). Three out of 6 mutations were novel (BRCA2 p.Y3006X, c.9204_9217del14, and c.295+2T>C), and two further mutation…
Extreme Methylation Values of Imprinted Genes in Human Abortions and Stillbirths
2010
Imprinted genes play an important role in fetal and placental development. Using quantitative bisulfite pyrosequencing assays, we determined the DNA methylation levels at two paternally methylated (H19 and MEG3) and four maternally methylated (LIT1, NESP55, PEG3, and SNRPN) imprinted regions in fetal muscle samples from abortions and stillbirths. Two of 55 (4%) spontaneous abortions and 10 of 57 (18%) stillbirths displayed hypermethylation in multiple genes. Interestingly, none of 34 induced abortions had extreme methylation values in multiple genes. All but two abortions/stillbirths with multiple methylation abnormalities were male, indicating that the male embryo may be more susceptible t…
Molecular and Cellular Insights into the Development of Uterine Fibroids
2021
Uterine leiomyomas represent the most common benign gynecologic tumor. These hormone-dependent smooth-muscle formations occur with an estimated prevalence of ~70% among women of reproductive age and cause symptoms including pain, abnormal uterine bleeding, infertility, and recurrent abortion. Despite the prevalence and public health impact of uterine leiomyomas, available treatments remain limited. Among the potential causes of leiomyomas, early hormonal exposure during periods of development may result in developmental reprogramming via epigenetic changes that persist in adulthood, leading to disease onset or progression. Recent developments in unbiased high-throughput sequencing technolog…
Predictive Factors of Response to Sunitinib in Imatinib-Resistant Gastrointestinal Stromal Tumors (GISTs): A Multi-Institutional Study
2019
Imatinib 400 mg is the standard of care for medical treatment of advanced GISTs. In the majority of cases, however, GISTs eventually develop resistance to imatinib. The optimal second line treatment has not been established yet and imatinib dose escalation (800 mg) or sunitinib represent two feasible options. The objective of this retrospective, multi-institutional, study is to analyze the validity of several parameters as possible predictive factors of response to sunitinib after imatinib failure. We reviewed 128 metastatic GISTs treated with sunitinib between January 2007 to June 2017. Primary tumour site, metastatic site, c-KIT/PDGFR-α mutational status, PET-FDG status and type…
UROEPITHELIAL DEFENSE IN CHILDREN WITH URINARY TRACT INFECTIONS (UTI)
1985
It is well accepted that obstructive uropathy causes UTI.In patients without urological anomalies a host defense defect of the uroepithelial cells (UEC) may result in increased susceptibility to bacterial infections.Even in patients with vesicourethral reflux (VUR) and recurrent UTI the postulated defense mechanism may be impaired since a significant proportion of these patients still suffer from UTI after surgical therapy.Therefore the influence of UEC on bacterial growth was investigated in 5 groups of children: healthy donors,children with neurogenic bladder due to myelomeningocele (MMC),patients with asymptomatic bacteriuria (ABU;without obstructive uropathy) and patients with VUR after…
Hypoxia inducible factor-1 alpha expression is increased in infected positive HPV16 DNA oral squamous cell carcinoma and positively associated with H…
2011
Abstract Background There is increasing evidence for the role of High Risk (HR) Human PapillomaVirus (HPV) in the pathogenesis of Oral Squamous Cell Carcinoma (OSCC). The E6 and E7 oncogenes from HR HPVs are responsible for the deregulation of p53 and pRB proteins involved in cell cycle and apoptotic pathways. In cell lines experiments, the HPV E7 protein seems to be able to enhance Hypoxia Inducible Factor-1 alpha (HIF-1α) activity, normally involved in the response to hypoxia and able to enhance angiogenesis. Results We studied tumor specimens from 62 OSCC; a higher prevalence of tumors in TNM stage II and also in pT2 class between OSCC infected positive HPV16 DNA than non-infected ones w…
The diagnosis of polycystic ovary syndrome in adolescents
2010
In women, the definition of polycystic ovary syndrome (PCOS) has become broad and includes several possible phenotypes. Because several features of PCOS may be in evolution in adolescents, we suggest that only firm criteria should be used to make a diagnosis of PCOS during adolescence. Hyperandrogenism, oligomenorrhea, and ovarian morphology change during adolescence and are discussed individually. Adolescents with incomplete criteria for a firm diagnosis of PCOS should be followed up carefully and may be diagnosed at a later time.
Ovarian function following radiation and chemotherapy for cancer
2004
High-dose chemotherapy and radiotherapy have increased the long-term survival of young patients with cancer; nevertheless, the toxic effects on ovarian function causing amenorrhoea, premature menopause and infertility, are still severe.
Reproductive System Outcome Among Patients with Polycystic Ovarian Syndrome.
2015
Polycystic ovarian syndrome (PCOS) may present with different clinical patterns and the anovulatory phenotype may not be the most common. Data suggest that anovulation in PCOS is not the consequence of increased androgen ovarian secretion but rather of a severe derangement of early follicle development. Other mechanisms may be operative in subgroups of patients and may contribute to the arrest of follicle growth and anovulation. At least 50% of anovulatory patients with PCOS become ovulatory in their late reproductive age. There is also evidence that menopause may occur later in women with PCOS. Finally, a strategy for treatment of infertility in PCOS is presented.