Search results for "genital diseases"
showing 10 items of 669 documents
Genitourinary Symptoms—Patient Help-Seeking and General Practitioner Management: An Outpatient Based Survey at a Tertiary Hospital in Southern Italy
2015
Abstract Introduction General knowledge of most common genitourinary diseases is often lacking. In this survey we evaluated the attention given by patients and general practitioners to genitourinary symptoms, and particularly to hematuria and potential early signs of genitourinary cancer. Methods A structured self-administered questionnaire was administered to outpatients before the urological consultation. The questionnaire consisted of 4 multiple choice questions to record the level of patient awareness of urological symptoms, the importance given to gross hematuria, the interval between the onset and the visit, the regularity of physical examination and the first-level investigations ind…
Relationships between absence of functional swimbladder, calculosis and larval mortality in hatcheryreared gilthead sea bream, Sparus aurata L.
1993
Abstract. The relationship between absence of functional swim-bladder, calculosis and larval mortality of hatchery-reared sea bream, Sparus aurata L., was observed. There was a temporal variation in the main causes of mortality, i.e. not inflated swim-bladder appears to be the main cause up to the 47th day, and the presence of calculi around the 55th day. Histological sections, semi-quantitative analysis and scanner electron microscope photographs were carried out.
Remplacement total de l’articulation temporo-mandibulaire par prothèse
2013
Summary Introduction The temporomandibular joint (TMJ) may be the location for tumoral, post-traumatic, degenerative, inflammatory, or congenital diseases requiring a prosthetic replacement. We present a technical note for total TMJ replacement with a Biomet ® Microfixation prosthesis (Jacksonville, FL, USA). Technical note The preoperative data includes dental panoramic X-ray, MRI of the TMJ, and CT-scan (or cone beam) of the facial skeleton. The last two mentioned examinations allow three-dimensional reconstructions and stereo-lithographic models required for surgical planning. The prosthetic device includes a temporal ultra-high density polyethylene component and a mandibular chrome-coba…
New perspectives on the renal slit diaphragm protein podocin.
2011
Podocin is a critical component of the glomerular filtration barrier, its mutations causing recessive steroid-resistant nephrotic syndrome. A GenBank analysis of the human podocin (NPHS2) gene resulted in the possible existence of a new splice variant of podocin in the kidney, missing the in-frame of exon 5, encoding the prohibitin homology domain. Using RT–polymerase chain reaction and immunoblotting followed by sequence analysis, we are for the first time able to prove the expression of a novel podocin isoform (isoform 2), exclusively and constitutively expressed in human podocytes. Furthermore, we reveal singular extrarenal podocin expression in human and murine testis. Our data show the…
WT1 isoform expression pattern in acute myeloid leukemia.
2013
WT1 plays a dual role in leukemia development, probably due to an imbalance in the expression of the 4 main WT1 isoforms. We quantify their expression and evaluate them in a series of AML patients. Our data showed a predominant expression of isoform D in AML, although in a lower quantity than in normal CD34+ cells. We found a positive correlation between the total WT1 expression and A, B and C isoforms. The overexpression of WT1 in AML might be due to a relative increase in A, B and C isoforms, together with a relative decrease in isoform D expression.
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…
A national study on the physical and mental health of intersex adults in the U.S.
2020
ObjectivesTo describe the health of intersex adults (people with differences of sex development) in the U.S. using community-based research methods.MethodsIn July-September 2018, we conducted a national health study of intersex adults aged 18 and older in the U.S., using a survey hosted on Qualtrics. The study describes the physical and mental health experiences of intersex adults, including differences by age (18 to 39 vs. 40 and older). Questions were derived from national (Behavioral Risk Factor Surveillance System) and intersex-related health studies.ResultsA non-probability sample of 198 intersex adults completed the survey over three months. Over 43% of participants rated their physic…