Search results for "FREQUENCY"
showing 10 items of 2158 documents
Polymorphism of immunoglobulin enhancer element HS1,2A: allele *2 associates with systemic sclerosis. Comparison with HLA‐DR and DQ allele frequency
2007
OBJECTIVE: To investigate the relationship of the polymorphic enhancer HS1,2 central to the 3' enhancer complex regulatory region (IgH3'EC) of the immunoglobulin heavy chain genes with systemic sclerosis (SSc) disease and compare it with HLA-DR and DQ associations. METHODS: A total of 116 patients with SSc were classified as diffuse (dSSc) or limited (lSSc), and as carriers of antitopoisomerase I (anti-Scl70) or anticentromere (ACA) antibodies. Allele and genotype frequencies were assessed in the population as a whole and in the two major subsets, dSSc and lSSc. The concentration of peripheral blood immunoglobulin levels was also determined and analysed according to the genotypes. RESULTS: …
Test-retest repeatability of questionnaire for pain symptoms for school children aged 10–15 years
2019
Abstract Background and aims There is a growing body of evidence, that pain is common at school age. Less is known about the repeatability of pain questionnaires for children. This study aimed to assess the test-retest repeatability of the Finnish version of the electronic pain questionnaire for school-aged children. Methods Primary (n = 79) and lower secondary (n = 127) schoolchildren aged 10–15 years from two schools from the Jyväskylä region of Finland, filled in an electronic questionnaire twice in an interval of 2 weeks. It captured the frequency of pain symptoms with a five-point Likert-scale questionnaire covering nine areas of the body for the last 3 months. The intraclass correlati…
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
2010
Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene.We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c…
Computer game as a tool for training the identification of phonemic length.
2013
Computer-assisted training of Finnish phonemic length was conducted with 7-year-old Russian-speaking second-language learners of Finnish. Phonemic length plays a different role in these two languages. The training included game activities with two- and three-syllable word and pseudo-word minimal pairs with prototypical vowel durations. The lowest accuracy scores were recorded for two-syllable words. Accuracy scores were higher for the minimal pairs with larger rather than smaller differences in duration. Accuracy scores were lower for long duration than for short duration. The ability to identify quantity degree was generalized to stimuli used in the identification test in two of the childr…
Dynamic Fast Imaging Employing Steady State Acquisition Magnetic Resonance Imaging of the Vocal Tract in One Overtone Male Singer: Our Preliminary Ex…
2022
Summary Aims To demonstrate physiological changing of vocal tract's structures during overtone singing with commercial magnetic resonance imaging (MRI) Fast Imaging Employing Steady State Acquisition (FIESTA) dynamic sequence. Methods and Materials A 1.5 T MRI with a 16 channel head-and-neck coil and a FIESTA sequence were used. A temporal resolution of 0.155 sec (7 image/s). A single professional singer was studied. The MR acquisition is made while the singer performed a predetermined singing sequence. Three different overtone singing techniques were examined (L-technique, J-technique, and NG technique) and one effect (Ezengileer) applied to L-technique. For each overtone technique we eval…
Comparison of short-term heart rate variability indexes evaluated through electrocardiographic and continuous blood pressure monitoring
2019
Heart rate variability (HRV) analysis represents an important tool for the characterization of complex cardiovascular control. HRV indexes are usually calculated from electrocardiographic (ECG) recordings after measuring the time duration between consecutive R peaks, and this is considered the gold standard. An alternative method consists of assessing the pulse rate variability (PRV) from signals acquired through photoplethysmography, a technique also employed for the continuous noninvasive monitoring of blood pressure. In this work, we carry out a thorough analysis and comparison of short-term variability indexes computed from HRV time series obtained from the ECG and from PRV time series …
Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population
2010
BackgroundAlbeit several studies pointed out the pivotal role that CD4+T cells have in Multiple Sclerosis, the CD8+ T cells involvement in the pathology is still in its early phases of investigation. Proteasome degradation is the key step in the production of MHC class I-restricted epitopes and therefore its activity could be an important element in the activation and regulation of autoreactive CD8+ T cells in Multiple Sclerosis.Methodology/principal findingsImmunoproteasomes and PA28-alphabeta regulator are present in MS affected brain area and accumulated in plaques. They are expressed in cell types supposed to be involved in MS development such as neurons, endothelial cells, oligodendroc…
Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from southern Brazil: the Kaingang and the Guarani.
1997
Population genetic studies of the major histocompatibility complex (MHC) class III region, comprising C2, BF and C4 phenotypes, and molecular genetic data are rarely available for populations other than Caucasoids. We have investigated three Amerindian populations from Southern Brazil: 131 Kaingang from Ivaí (KIV), 111 Kaingang (KRC) and 100 Guarani (GRC) from Rio das Cobras. Extended MHC haplotypes were derived after standard C2, BF, C4 phenotyping and restriction fragment length polymorphism (RFLP) analysis with TaqI, together with HLA data published previously by segregation analysis. C2 and BF frequencies corresponded to other Amerindian populations. C4B*Q0 frequency was high in the GRC…
Fenofibrate effect on triglyceride and postprandial response of apolipoprotein A5 variants: the GOLDN study.
2007
Objective— Apolipoprotein A5 ( APOA5 ) is a key determinant of plasma triglyceride (TG) concentrations. Genetic variation at the APOA5 locus could be responsible for some of the observed differences in response to fenofibrate therapy. Methods and Results— We examined the association between tag SNPs (−1131T>C and 56C>G) at APOA5 and TG and HDL-C response to fenofibrate and a postprandial lipid challenge in 791 men and women participating in the GOLDN study. After 3-week drug treatment, APOA5 56G carriers displayed significant decrease in TG ( P =0.006), and increase in HDL-C ( P =0.002) levels relative to their basal values in the fasting state when compared with noncarriers (a TG re…
TRIB1 constitutes a molecular link between regulation of sleep and lipid metabolism in humans.
2012
Epidemiological studies show association between sleep duration and lipid metabolism. In addition, inactivation of circadian genes induces insulin resistance and hyperlipidemia. We hypothesized that sleep length and lipid metabolism are partially controlled by the same genes. We studied the association of total sleep time (TST) with 60 genetic variants that had previously been associated with lipids. The analyses were performed in a Finnish population-based sample (N = 6334) and replicated in 2189 twins. Finally, RNA expression from mononuclear leucocytes was measured in 10 healthy volunteers before and after sleep restriction. The genetic analysis identified two variants near TRIB1 gene th…