Search results for "Names"
showing 10 items of 6843 documents
A retrospective follow up study on maternal age and infant mortality in two Sicilian districts
2011
Abstract Background Infant mortality rate (IMR) is a key public health indicator. Maternal age is a well-known determinant of pregnancy and delivery complications and of infant morbidity and mortality. In Italy the Infant Mortality Rate was 3.7/1000 during 2005, lower than the average IMR for the European Union (4.94/1000). Sicily is the Italian region with the highest IMR, 5/1000, and neonatal mortality rate (NMR), 3.8/1000, with substantial variation among its nine districts. The present study compared a high IMR/NMR district (Messina) with a low IMR/NMR district (Palermo) during the period 2004-2006 to evaluate potential determinants of the IMRs' differences between the two districts and…
On-eye optical quality of daily disposable contact lenses for different wearing times
2012
Purpose To quantify the optical quality of various daily disposable contact lenses in vivo and to ascertain its variation in terms of wearing time by means of objective non-invasive determination of wavefront patterns. Methods The crx1 adaptive-optics system was used to measure the wavefront aberrations in 15 myopic eyes before and at 2-h intervals after contact lens fitting, over a 12-h wearing period. Seven types of contact lenses having different material, water content and lens design were evaluated in this study: Dailies Total1, Dailies AquaComfort Plus, Proclear 1 Day, 1-Day Acuvue TruEye, 1-Day Acuvue moist, SofLens daily disposable and Clariti 1-Day. The aberration data were analyse…
Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
2020
Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…
Concurrent Criterion-related Validity, Reliability, and Responsiveness to Treatment of the Figure-of-Four Position for Measurement of Anterior Hip Jo…
2018
Abstract Objective The objective of this study was to examine the intra- and intertester reliability, concurrent criterion-related validity, and responsiveness to treatment of the “figure-of-four” position. Methods A total of 52 asymptomatic male soccer players participated in this study. The intraclass correlation coefficient (2, 1) was used to determine intra- and intertester reliability of the figure-of-four position. Pearson product moment correlation coefficients examining the association between the figure-of-four position and goniometric measurements of hip extension and external rotation were used to establish concurrent validity. To evaluate responsiveness to treatment, the figure-…
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach
2015
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17 000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established. The genome-wide association (GWA) study was performed on 249 very young FH cases with CHD and 217 old FH controls without CHD (above 65 years for males and 70 years of age for females) using the Ill…
Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods
2015
International audience; Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. For the detection of the CALR mutations, three methods were compared in parallel: high-resolution melting-curve analysis (HRM), product-sizing analysis and Sanger sequencing. The sensitivity for the HRM, product-sizing analysis and Sanger sequencing was 96.4%, 98.2% and 89.3% re…
Image-Guided Transcranial Doppler Ultrasound for Monitoring Posthemorrhagic Vasospasms of Infratentorial Arteries: A Feasibility Study
2019
Background A considerable number of patients with subarachnoid hemorrhage (SAH) develop vasospasms of the infratentorial arteries. Transcranial Doppler sonography (TCD) is used to screen for vasospasm. In this study, we used a technical modification that combines TCD with an image guidance device that the operator can use to navigate to the ultrasonic window and to predefined intracranial vascular targets. Our aim was to analyze the feasibility, spatial precision, and spatial reproducibility of serial image-guided TCD of infratentorial and—for comparison—supratentorial arteries in the clinical setting of monitoring for vasospasm after SAH. Methods The study included 10 SAH patients, who eac…
The Role of Work Group in Individual Sickness Absence Behavior
2008
The purpose of our two-year follow-up study was to examine the effect of the social components of the work group, such as group absence norms and cohesion, on sickness absence behavior among individuals with varying attitudes toward work attendance. The social components were measured using a questionnaire survey, and data on sickness absence behavior were collected from the employers' records. The study population consisted of 19,306 Finnish municipal employees working in 1,847 groups (78% women). Multilevel Poisson regression modeling was applied. The direct effects of work group characteristics on sickness absence were mostly insignificant. In contrast, both of the social components of …
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
2018
Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …
Nonlinear analysis of sleep EEG data in schizophrenia: calculation of the principal Lyapunov exponent
1995
The generating mechanism of the electroencephalogram (EEG) points to the hypothesis that EEG signals derive from a nonlinear dynamic system. Hence, the unpredictability of the EEG might be considered as a phenomenon exhibiting its chaotic character. The essential property of chaotic dynamics is the so-called sensitive dependence on initial conditions. This property can be quantified by calculating the system's first positive Lyapunov exponent, L1. We calculated L1 for sleep EEG segments of 13 schizophrenic patients and 13 control subjects that corresponded to sleep stages I, II, III, IV and REM (rapid eye movement), as defined by Rechtschaffen and Kales, for the lead positions Cz and Pz. Du…