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The calculation of the first positive Lyapunov exponent in sleep EEG data
1993
To help determine if the EEG is quasiperiodic or chaotic we performed a new analysis by calculating the first positive Lyapunov exponent L1 from sleep EEG data. Lyapunov exponents measure the mean exponential expansion or contraction of a flow in phase space. L1 is zero for periodic as well as quasiperiodic processes, but positive in case of chaotic processes expressing the sensitive dependence on initial conditions. We calculated L1 for sleep EEG segments of 15 healthy male subjects corresponding to sleep stages I, II, III, IV and REM (according to Rechtschaffen and Kales). Our investigations support the assumption that EEG signals are neither quasiperiodic waves nor simple noise. Moreover…
Effectiveness of lingual versus labial fixed appliances in adults according to the Peer Assessment Rating index.
2019
Introduction: The purpose of this study was to compare the effectiveness of lingual treatment and labial fixed appliances in the treatment of adult orthodontic patients. Methods: We conducted a retrospective study of 72 patients. The Peer Assessment Rating (PAR) index was measured at the start (T0) and end (T1) of treatment. Significant differences between treatment means were determined by means of analysis of variancewith the Bonferroni correction or with the use of Fisher exact test. Results: The lingual group had a mean pretreatment age of 28.6 ± 6.7 years, and the labial group had a pretreatment age of 26.6 ± 9.5 years. This difference was statistically not significant. The mean pre- a…
Reduction of Interstitial Cells of Cajal (ICC) Associated With Neuronal Nitric Oxide Synthase (n-NOS) in Patients With Achalasia
2007
The etiology of achalasia is still unknown. The current theories of chronic inflammation leading to autoimmune response with destruction and loss of the inhibitory myenteric ganglion cells enlighten its pathogenesis in a limited way only. Interstitial cells of Cajal (ICC) have been shown to be involved in nitrergic neurotransmission of the lower esophageal sphincter (LES).To investigate the significance of ICC and neuronal nitric oxide synthase (n-NOS) in esophageal wall tissue of patients undergoing surgery for achalasia.In 53 patients with a median age of 45 (6-78) yr undergoing surgery for achalasia, the immunoreactivity of ICC (CD117/c-kit) and n-NOS was assessed. In 42 patients, biopsi…
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
2013
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All thr…
Long-term Evolution of Hepatocellular Adenomas at MRI Follow-up.
2020
Background Hepatocellular adenomas (HCAs) are rare benign liver tumors. Guidelines recommend continued surveillance of patients diagnosed with HCAs, but these guidelines are mainly based on small studies or expert opinion. Purpose To analyze the long-term evolution of HCAs, including solitary and multiple lesions, and to identify predictive features of progression with MRI. Materials and Methods In a retrospective study, patients diagnosed with pathologically proven solitary or multiple HCAs between January 2004 and December 2015 were included; β-catenin-mutated HCAs and HCAs with foci of malignancy were considered to be at risk for progression. MRI examinations were analyzed, and tumor evo…
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…