Search results for "PROB"
showing 10 items of 8859 documents
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…
Identification of D179H, a novel missense GJB2 mutation in a Western Sicily family
2013
The main purpose of this study was to describe a novel missense mutation (p.D179H) found in a Western Sicily family and to examine the genetic and audiologic profiles of all family members by performing a GJB2 and GJB6 mutations analysis and a complete audiologic assessment. The proband was a 3-month-old infant with a congenital profound sensorineural hearing loss; direct sequencing of the GJB2 revealed the presence of a c.35delG mutation in the heterozygous state and a heterozygous G[C transition at nucleotide 535 in trans; this novel mutation, called p.D179H, resulted in an aspartic acid to histidine change at codon 179. It was also evidenced in the heterozygous state in two members of th…
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent
2006
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…
Oral status and Candida colonization in patients with Sjogren s Syndrome
2009
Objective: To determine the oral status, salivary flow rate, Candida carriage in saliva, and prevalence of Candida albicans colonization in several areas of the mouth in patients with primary and secondary Sjögren?s syndrome as opposed to those of healthy subjects. Study design: Thirty-seven patients with Sjögren?s syndrome (SS), [14 patients with primary SS (SS-1) and 23 patients with secondary SS (SS-2)], along with 37 healthy controls were examined in regard to number of teeth, pro-bing pocket depth (PPD), approximal plaque index (API), bleeding on probing (BOP), presence of prosthetic appliances and smoking habits. Salivary flow rate (SFR), Candida carriage in saliva, presence of Candid…
Blocking by word frequency and neighborhood density in visual word recognition: A task-specific response criteria account
2004
International audience; Effects of blocking words by frequency class (high vs. low) and neighborhood density (high vs. low) were examined in two experiments using progressive demasking and lexical decision tasks. The aim was to examine the predictions of a task-specific response criteria account of list-blocking effects. Distinct patterns of blocking effects were obtained in the two tasks. In the progressive demasking task, a pure-list disadvantage was obtained to low frequency-high density words, whereas high frequency-low density produced a trend toward a pure-list advantage. In lexical decision, high-frequency words showed a pure-list advantage that was strongest in high-density words, w…
Optimal selection of individuals for repeated covariate measurements in follow-up studies
2016
Repeated covariate measurements bring important information on the time-varying risk factors in long epidemiological follow-up studies. However, due to budget limitations, it may be possible to carry out the repeated measurements only for a subset of the cohort. We study cost-efficient alternatives for the simple random sampling in the selection of the individuals to be remeasured. The proposed selection criteria are based on forms of the D-optimality. The selection methods are compared with the simulation studies and illustrated with the data from the East–West study carried out in Finland from 1959 to 1999. The results indicate that cost savings can be achieved if the selection is focuse…
Flapless application of enamel matrix derivative in periodontal retreatment: A multicentre randomized feasibility trial
2021
AIM To investigate the potential benefit of enamel matrix derivative (EMD) as adjunct to re-instrumentation of residual pockets persisting after steps 1 and 2 of periodontal therapy. MATERIAL AND METHODS 44 adult patients participated in a multicentre feasibility randomized clinical trial with split-mouth design. They had presented at re-evaluation after initial non-surgical periodontal therapy (steps 1 and 2 of periodontal therapy) for generalized periodontitis with at least 2 teeth with residual probing pocket depths (PPD) ≥5 and ≤8 mm, with bleeding on probing (BOP). Two teeth with similar PPD were randomized to receive re-instrumentation either with (test) or without (control) adjunctiv…
Biomonitoring of bisphenols A, F, S in human milk and probabilistic risk assessment for breastfed infants
2019
The present study addresses the presence of bisphenols A (BPA) and its analogs bisphenol F (BPF) and S (BPS) in milk of 120 mothers living in Valencia (Spain) and participating in the BETTERMILK project (year 2015). We also studied the factors that could influence the BPA levels and estimated the exposure and the risk for breast fed infants. The frequency of detection of total (conjugated + unconjugated) and unconjugated-BPA were 83% and 77%. with a geometric mean of 0.29 ng/mL and 0.15 ng/mL, respectively. The frequency of detection was much lower for total-BPF (22%) and total-BPS (1.1%). The place of residence of the mother and the use of personal care products showed significant associat…
Hepatitis B vaccination of relatives of hepatitis B virus DNA positive carriers: an experience with plasma-derived vaccine.
1989
We assessed in a western population the efficacy of a plasma-derived hepatitis B vaccine in relatives of highly infectious hepatitis B virus (HBV) carriers. A consecutive group of 103 HbsAg, anti-HBs and anti-HBc negative household relatives of 45 HBV-DNA positive chronic carriers received a 5 micrograms dose of plasma-derived vaccine at 0, 1, 2 and 12 months. Protective levels of immunity developed in 101 subjects (97.8%) 3 months after boosting. Low responders to the vaccine were mostly found among parents and spouses of carriers, whilst offspring and siblings were usually high responders. The main discriminant in predicting a good response was age below 12 years. Hyporesponsiveness did n…
Moderating Effects of Trait Anxiety on Electrodermal Reactions in Different Learning Conditions
1984
This study examined the control of the effects of trait anxiety on GSR during a problem-solving task under different conditions. Of 84 subjects, 39 men and 49 women of mean age 21 yr., 42 were classified as high in anxiety, 42 as low in anxiety. Subjects solved concept-formation tasks at different degrees of difficulty under one of three learning conditions. Low tone, unpleasant loud tone, and unpleasant electric shock provided the three kinds of error feedback. For the ‘low tone’ and ‘electric shock’ as feedback on errors significant differences in GSR values resulted for groups high and low in anxiety with the latter showing higher scores. The relevance of physiological patterns in multi…