Search results for "CA [MG]"
showing 10 items of 2161 documents
Intravascular ultrasound detected classification of coronary lesions as a predictor of dissections after balloon angioplasty.
1996
Dissection after balloon angioplasty of coronary arteries may give rise to an unfavourable early outcome. Compared with coronary angiography, intravascular ultrasound (IVUS) allows more detailed characterisation of dissections. We investigated the incidence and type of dissections after balloon angioplasty in calcified coronary lesions. IVUS was performed in 43 patients with 48 lesions before and after percutaneous balloon angioplasty. Significant calcification was defined as an arc of more than 90 degrees with typical acoustic shadowing. Dissections were classified as type A when the media was not involved by the dissection and as type B when media involvement had occurred. In the group wi…
Intra-renal hemodynamics and carotid intima-media thickness in the metabolic syndrome.
2009
Aims: Metabolic syndrome (MetS) is associated with increased cardiovascular risk. We hypothesize that early vascular changes are already present at the time of diagnosis of MetS. The relationship of different measures of early vascular impairment with body fat distribution and the natural progression of MetS was examined in newly diagnosed subjects non-pharmacologically treated. Methods: 246 consecutively enrolled subjects were categorized according to the presence of MetS and type 2 diabetes (T2D). Intra-renal Doppler flow was used to ascertain resistive (RI) and pulsatility (PI) indices as markers of vascular resistance. Carotid intima-media thick- ness (IMT), cutis-rectis (CR) and rectis…
Demographic and behavioural profiles of patients with common oral mucosal lesions by a homogeneity analysis
2012
Objective: The aim of this study is to assess the main oral mucosal lesions (OMLs) within a hospital base and to provide an anamnestic, diagnostic model based on homogeneity analysis of some variables. Methods: The demographic and behavioural data (i.e. gender, age, smoking status, alcohol consumption and therapeutic drug usage) of 1753 patients with at least one OML were considered. Multiple correspondence analysis (MCA) and multivariate tests of the simultaneous marginal homogeneity hypothesis (SMH) were used to analyse the evidence of any differences between the demographic and behavioural profiles relating to OMLs diagnoses. Statistical significance of P<0.05 was chosen. Results: With r…
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
2012
Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 …
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily
2005
Summary Background Lipoid proteinosis (LP), also known as Urbach–Wiethe disease, is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin infiltration and scarring. Mutations within the extracellular matrix protein 1 (ECM1) gene cause LP. Objectives We report the molecular analysis of the ECM1 gene in a Sicilian patient with LP in order to extend the mutation spectrum of this genodermatosis. Methods We studied a 32-year-old female born from consanguineous parents who was diagnosed at the age of 11 years as having LP. She has a clinical phenotype corresponding to Urbach–Wiethe disease characterized by papules/nodules, indurated plaques and sometimes ulcerated les…
Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss
2014
Objective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutations were found. The hearing impairment was profound in the 64.72% of probands (mean PTA 0.25 – 4 kHz of 88.82 26.52 dB HL). A total of 81.37% of patients harboured at least one c.35delG allele; c.167delT and c…
Older age and markers of inflammation are strong predictors of clinical events in women with asymptomatic carotid lesions
2007
OBJECTIVE: Limited information exists regarding the association between markers of inflammation, such as high-sensitivity C-reactive protein (hs-CRP) and fibrinogen, and adverse events in postmenopausal women with subclinical atherosclerosis. Therefore, we investigated the prognostic impact of traditional risk factors and inflammation on adverse cardiac events in women with asymptomatic carotid lesions. DESIGN: We studied 250 postmenopausal women who were free of cardiovascular disease. Traditional cardiovascular risk factors were investigated, and laboratory analysis included measurement of plasma lipids, fibrinogen, and hs-CRP. The early phases of carotid atherosclerosis were assessed by …
Prevalence of cervical human papillomavirus infection and types among women immigrated to Sicily, Italy.
2009
We determined the prevalence of human papillomavirus (HPV) cervical infection and HPV genotypes among 115 women immigrating to Sicily (Italy), with regard to abnormal cytology and socio-behavioral characteristics in a cross-sectional, observational study. Information was collected with the help of cultural mediators/translators. HPV-DNA was assayed by the INNOLiPA HPV assay and a nested PCR/sequencing method. Sixty (52.2%) women came from sub-Saharan Africa and 55 (47.8%) from Eastern Europe. HPV infection was found in 55 (47.8%) women. The most frequent types were the oncogenic types HPV-16 (7.8%), HPV-18 and 51 (6.0% each), HPV-52 (5.2%), 31, 53, and 68 (4.3% each). Twenty-seven (23.5%) w…
Nuevas terminaciones para nuevas realidades: performatividad, afiliación y atenuación en la comunidad de habla LGTBI
2021
Este artículo presenta un estudio sobre las terminaciones -i/-is y -e/-es en la comunidad de habla LGTBI. La motivación de esta investigación viene de la representación del género no binario en la lengua española, marcado recientemente por las terminaciones en -e, que además es utilizado para crear un plural inclusivo que evite el masculino genérico. En la misma línea, se han detectado usos, dentro de la comunidad de habla LGTBI, de otro grupo de terminaciones (-i/-is) que parecen anular la distinción de género. Los datos han sido extraídos de una encuesta sociolingüística elaborada por el autor de este trabajo. En la parte sociolingüística se pretende perfilar el tipo de usuario de estas t…