Search results for "GENI"
showing 10 items of 6843 documents
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
2011
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…
Real-time ultrasound of normal adrenal glands and small tumors.
1984
The adrenals were studied prospectively with real-time ultrasound in a series of 60 healthy individuals and 13 patients with small adrenal masses sized 8-20 mm in diameter. In only one of the 60 healthy subjects was a normal adrenal gland delineated as a distinct hypoechoic structure. In all other instances only the highly echogenic suprarenal fat could be displayed. Visualization of small tumors was successful in 12 of 13 patients. The suprarenal area and small lesions were best demonstrated by a lateral intercostal approach using longitudinal and transverse scanning planes. The best access was through the 9th/10th intercostal space at the junction with the anterior and middle axillary lin…
Premature ejaculation: Pharmacotherapy vs group psychotherapy alone or in combination
2017
Objectives: Premature Ejaculation (PE), the commonest sexual dysfunction in males, is generally treated with local anesthetic and SSRI (Dapoxetine). The aim of our study was investigate Group Psychotherapy as an alternative treatment for PE and compare the efficacy of pharmacological treatment and psychotherapy, either alone or in combination, in terms of response and improved Quality of Life (QoL). From a male outpatient population screened for PE, those who received a diagnosis of PE were proposed for the study, enrolled and divided into 3 groups (A, B and C). Each group was treated with Dapoxetine, Group Psychotherapy alone and Dapoxetine and Group Psychotherapy, respectively. Materials …
Prevalence and genomic variability of transfusion transmitted virus in Italian cryptogenic chronic liver disease and healthy blood donors
2002
Abstract Background. Infection with transfusion transmitted virus, a new member of the Parvoviridae family, has been found in patients both with chronic and fulminant post-transfusion cryptogenic hepatitis. Aim. To evaluate the prevalence and clinical impact of transfusion transmitted virus infection in Italy. Patients and Methods. Studies were carried out on 256 patients and control subjects from three centres from Northern, Central and Southern Italy (92 nonA-nonC chronic hepatitis, 10 acute non fulminant cryptogenic hepatitis, 41 hepatitis C virus-related chronic hepatitis and 113 blood donors). Serum transfusion transmitted virus was detected by nested polymerase chain reaction using tw…
D2-40 negative pyogenic granuloma-like Kaposi's sarcoma: Diagnostic features and histogenetic hypothesis of an uncommon skin tumor in HIV-negative pa…
2015
Locate full-text(opens in a new window)|View at Publisher| Export | Download | Add to List | More... Pathology Research and Practice Volume 211, Issue 7, July 01, 2015, Pages 528-532 D2-40 negative pyogenic granuloma-like Kaposi's sarcoma: Diagnostic features and histogenetic hypothesis of an uncommon skin tumor in HIV-negative patients (Article) Cabibi, D.a, Giannone, A.G.a , Guarnotta, C.a, Schillaci, O.b, Franco, V.a a Department of Sciences for Promotion of Health and Mother and Child Care, University of Palermo, Palermo, Italy b Servizio di Anatomia Patologica, Dipartimento Oncologico di III livello, La Maddalena Casa di Cura di Alta Specialità, Palermo, Italy View references (20) Abst…
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
2013
Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more AC…
Escalating doses of paclitaxel and epirubicin in combination with cisplatin in advanced ovarian epithelial carcinoma: a phase I–II study
2003
Our objective was to identify a new active three-drug combination regimen consisting of paclitaxel (PTX), epirubicin (EPI) and cisplatin as first-line line chemotherapy for advanced ovarian carcinoma. A phase I study was carried out to evaluate the dose-limiting toxicity (DLT) and the maximally tolerated dose (MTD) of PXT and EPI in combination with a fixed dose of cisplatin every 4 weeks. Side-effects were recorded according to the NCI Common Toxicity Criteria. Patients were treated in cohorts of three with fixed-dose cisplatin 80 mg/m 2 and EPI 80 → 100 mg/ m 2 and PXT 100 → 160 mg/m 2 until DLT was reached. Once MTD was identified, a single-step phase II study was therefore carried out t…
Calf Blood Compound (CFC) and Homeopathic Drug Induce Differentiation of Primary Human Skeletal Muscle Cells.
2019
AbstractThe use of injections to treat structural muscle injuries is controversially discussed. In our controlled in vitro study, we investigated the biological impact of Actovegin and Traumeel alone and in combination on primary human skeletal muscle cells. Cells were characterized by immunofluorescence staining for myogenic factor 5 (Myf5) and MyoD, and cultured with or without Actovegin and / or Traumeel. The effects of these agents were assayed by cell viability and gene expression of the specific markers MyoD, Myf5, neural adhesion molecule (NCAM), and CD31. Myotube formation was determined by myosin staining. Neither Actovegin nor Traumeel showed toxic effects or influenced cell viabi…
Role of cytomegalovirus (CMV)-specific polyfunctional CD8+ T-cells and antibodies neutralizing virus epithelial infection in the control of CMV infec…
2015
The role of cytomegalovirus (CMV)-specific polyfunctional CD8+ T-cells and that of antibodies neutralizing virus epithelial infection (AbNEI) in the control of CMV DNAemia were investigated in 39 CMV-seropositive allogeneic stem-cell transplant (Allo-SCT) recipients with (n = 24) or without (n = 15) CMV DNAemia. AbNEI levels were monitored prospectively by means of a neutralization assay employing retinal epithelial cells (ARPE-19) and the recombinant CMV strain BADrUL131-Y4. Quantification of CMV-specific polyfunctional CD8+ T-cells (expressing two or three of the following markers: IFN-γγ, TNF-α and CD107a) in whole blood was performed by flow cytometry for intracellular cytokine staining…
Advancement genioplasty in Class I patients: predictability and stability of facial profile changes
2011
This retrospective study evaluated the skeletal and soft tissue facial profile changes as well as the predictability and the short-term stability of the soft-tissue response to advancement genioplasty in Class I dental arch relationship patients. The study included 14 adult patients who presented a Class I dental arch but a Class II skeletal arch relationship and underwent advancement genioplasty exclusively. Lateral cephalograms taken immediately preoperatively (T1), immediately postoperatively (T2) and 1 year postoperatively (T3) were analysed. The hard tissue pogonion was sagittally advanced by an average of 7.9 mm (p0.001) (T1-T2). The soft tissue chin followed the sagittal skeletal chi…