Search results for "FREQUENCY"
showing 10 items of 2158 documents
Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus
2018
Background Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. Material and Methods Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained f…
Vascular endothelial growth factor gene polymorphisms in Behçet's disease
2004
Objective. To evaluate potential associations of vascular endothelial growth factor (VEGF) gene polymorphisms with Behçet's disease (BD) and disease expression. Methods. Case patients were 122 consecutive Italian patients with BD followed at the Rheumatology, Ophthalmology, and Neurology Units in Bologna, Ferrara, Milano, Palermo, Potenza, Prato, Reggio Emilia, and Trento over a 3-year period (1997-99) and who satisfied the International Study Group criteria for BD. Also selected as a control group were 200 healthy age and sex matched blood donors. All patients with BD and controls were genotyped by polymerase chain reaction and allele-specific oligonucleotide techniques for +936 C/T (rs302…
Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behcet's disease and deep vein thrombosis
2004
OBJECTIVE: To evaluate the frequency and type of vascular lesions and to study the association of factor V gene G1691A (Leiden) and prothrombin gene G20210A polymorphisms with venous thrombosis in Italian patients with Behçet's disease (BD). METHODS: Included were 118 consecutive Italian BD patients followed over a 3-year period (1997-1999) who satisfied the International Study Group criteria for BD. The control group consisted of 132 healthy Italian blood donors. All BD patients and controls were genotyped by polymerase chain reaction and allele-specific restriction enzyme techniques for factor V Leiden and prothrombin gene G20210A polymorphisms. RESULTS: Vascular lesions were observed in …
Safety and feasibility of a neuromuscular electrical stimulation chronaxie-based protocol in critical ill patients: A prospective observational study
2017
International audience; Purpose: The aim of this study was to evaluate the safety and feasibility of a neuromuscular electrical stimulation (NMES) protocol based on neuromuscular excitability and applied in numerous muscle groups of critical ill patients.Materials and methods: We performed a prospective observational study using an NMES applied daily and bilaterally into 5 muscle groups in lower limbs for 3 consecutive days. The characteristics of NMES were 90 contractions per muscle, pulse width equal to chronaxie, and a pulse frequency of 100 Hz. We assessed safety with central venous oxygen saturation, serum lactate, and creatine phosphokinase measurements. To evaluate feasibility, we re…
Evaluation of Physiological Parameters on Discomfort Glare Thresholds Using LUMIZ 100 Tool
2021
Purpose To assess the links between discomfort glare sensitivity and physiological factors such as eye biometry, refraction, skin phototype, age, and gender among a large sample of healthy human subjects. Methods A total of 489 participants who were 20 to 70 years old (241 men, 248 women) underwent discomfort glare threshold measurements via the LUMIZ 100. Eye biometry and optical quality were measured using a Zeiss IOLMaster 700 biometer and i.Profiler aberrometer. Iris color, skin tone, age, gender, eyeglasses use, chronotype, fatigue level, self-evaluation of light sensitivity, and time spent outdoors were determined. Statistical analysis was carried out using nonparametric Mann–Whitney …
The Atrial Natriuretic Peptide Genetic Variant rs5068 Is Associated With a Favorable Cardiometabolic Phenotype in a Mediterranean Population
2013
OBJECTIVE We hypothesized that the minor allele of the atrial natriuretic peptide (ANP) genetic variant rs5068 is associated with a favorable cardiometabolic phenotype in a general Mediterranean population. RESEARCH DESIGN AND METHODS We genotyped a random sample of the residents of Ventimiglia di Sicilia, Sicily, for rs5068. RESULTS Genotype frequencies of rs5068 are AA, 93.5%; AG, 6.4%; and GG, 0.1%. All subsequent analyses are AA versus AG+GG. After adjusting for age and sex, the minor G allele is associated with lower BMI (estimate [SE]: −1.7 kg/m2 [0.8], P = 0.04). In the AG+GG group, males with HDL cholesterol levels <40 mg/dL are less frequent (P = 0.05) and obesity tends to …
Enhancing the efficacy of integrative improvisational music therapy in the treatment of depression : study protocol for a randomised controlled trial
2019
Abstract Background Depression is among the leading causes of disability worldwide. Not all people with depression respond adequately to standard treatments. An innovative therapy that has shown promising results in controlled trials is music therapy. Based on a previous trial that suggested beneficial effects of integrative improvisational music therapy (IIMT) on short and medium-term depression symptoms as well as anxiety and functioning, this trial aims to determine potential mechanisms of and improvements in its effects by examining specific variations of IIMT. Methods/design A 2 × 2 factorial randomised controlled trial will be carried out at a single centre in Finland involving 68 adu…
Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population.
2001
Classes I and II human leukocyte antigens (HLA) genes encode highly polymorphic heterodimeric glycoproteins involved in the control of immune responses. The HLA class I gene HFE seemingly no longer participates in immunity because it has lost its ability to bind peptides and it has acquired the ability to form complex with the receptor for iron-binding transferrin by regulating iron uptake by intestinal cells. Thus, it indirectly regulates immune responses too, because iron availability plays a role in specific and non-specific immune responses. The distribution of HFE polymorphisms in Sicilian centenarians and nonagenarians was studied to evaluate if HFE alleles might be represented differ…
Role of proinflammatory alleles in longevity and atherosclerosis: results of studies performed on -1562C/T MMP-9 in centenarians and myocardial infar…
2007
Centenarians are characterized by marked delay or escape from age-associated diseases that cause mortality at earlier ages. Jointly, atherosclerosis and its complications, such as myocardial infarction (AMI), significantly contribute to mortality in the elderly. Inflammation is a key component of atherosclerosis and inflammatory genes are good candidates for the risk of the development of atherosclerosis. Genetic traits contribute to the risk of AMI and allelic variations in inflammatory genes should boost the risk of disease. If proinflammatory genotypes significantly contribute to the risk of AMI, alleles associated with disease susceptibility should not be included in the genetic backgro…
Diseño de una nueva prueba para medir la función de sensibilidad al contraste con iPad
2015
[EN] Purpose: To introduce a new application (ClinicCSF) to measure Contrast Sensitivity Function (CSF) with tablet devices, and to compare it against the Functional Acuity Contrast Test (FACT). Methods: A total of 42 subjects were arranged in two groups of 21 individuals. Different versions of the ClinicCSF (.v1 and .v2) were used to measure the CSF of each group with the same iPad and the results were compared with those measured with the FACT. The agreements between ClinicCSF and FACT for spatial frequencies of 3, 6, 12 and 18 cycles per degree (cpd) were represented by Bland---Altman plots. Results: Statistically significant differences in CSF of both groups were found due to the change…