Search results for "Adolescent"
showing 10 items of 6718 documents
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
2011
Abstract Background Autosomal dominant hypercholesterolemias (ADHs) are characterised by increased plasma levels of total and LDL cholesterol, predisposing to premature atherosclerosis. ADHs comprise several diseases with undistinguishable phenotype, caused by mutations in different genes: LDLR, APOB and PCSK9. Genetic studies are usually performed in patients with altered cholesterol levels. However, some persons carrying pathogenic mutations are normocholesterolemic and there are no further studies about this subject. We have studied the frequency of families and individuals carrying ADH mutations who do not present the disease in Spanish population. Methods We have analysed genes known t…
Acute Myocardial Infarction and Proinflammatory Gene Variants
2007
We identified four genetic risk sets for acute myocardial infarction (AMI) from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE ε2/3/4; 316 patients and 461 healthy subjects, all Italian. Putative risk alleles are shown underlined. The sets were identified using grade-of-membership analysis. Membership scores in the sets are automatically generated for individuals. The ''low intrinsic risk'' set had alleles that downregulate inflammation and cholesterol synthesis (IL6, TNF, ILl0, HMGCR). ''AMI across a broad age range'' carried multiple pr…
Apolipoprotein E Genotypic Frequencies Among Down Syndrome Patients Imply Early Unsuccessful Aging for ApoE4 Carriers
2007
Down syndrome (DS) might be considered a model for unsuccessful and early aging, possibly accelerated for those who carry the APOE4 allele associated with common age-related diseases, e.g., Alzheimer's disease and a poor prognosis after acute myocardial infarction, causing lower ApoE4 frequencies among the very old in general populations. We compared ApoE genotypic frequencies found for healthy adults (n = 211, age 90) to those found for DS patients (n = 106, mean age 9 years), all living in western Sicily. We found that the frequency of the ApoE23 genotype increased with age among the healthy adults (8.5%, 6.4%, 19.7%; p = 0.024) while ApoE34 frequency decreased (16.1%, 12.6%, 4.1%; p = 0.…
Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atrophy in early multiple sclerosis
2019
Background: The course of multiple sclerosis (MS) shows substantial inter-individual variability. The underlying determinants of disease severity likely involve genetic and environmental factors. Objective: The aim of this study was to assess the impact of APOE and HLA polymorphisms as well as smoking and body mass index (BMI) in the very early MS course. Methods: Untreated patients ( n = 263) with a recent diagnosis of relapsing-remitting (RR) MS or clinically isolated syndrome underwent standardized magnetic resonance imaging (MRI). Genotyping was performed for single-nucleotide polymorphisms (SNPs) rs3135388 tagging the HLA-DRB1*15:01 haplotype and rs7412 (Ɛ2) and rs429358 (Ɛ4) in APOE. …
Goldmann Applanation Tonometry Using Sterile Disposable Silicone Tonometer Shields
1996
Abstract Purpose: Placement of a sterile single-use cover over the tonometer tip may be a convenient and safe alternative method to repeated chemical disinfection. This study was undertaken to evaluate the accuracy and performance of Goldmann applanation tonometry using a sterile disposable silicone tonometer shield over the biprism tip. Methods: The same investigator measured intraocular pressure in 120 eyes with and without the shield. The eyes were tested randomly first with either the uncovered or the covered tonometer to control for the possible effects of repeated tonometry influencing measurement differences. Readings were recorded independently in a masked fashion. Results: The intr…
The relationship between central corneal thickness and Goldmann applanation tonometry
2003
The aim of this study was to investigate the relationship between Goldmann applanation tonometry and central corneal thickness in a large sample of healthy eyes.Five hundred eyes of 500 subjects (253 women, 50.6 per cent and 247 men, 49.4 per cent) were analysed in a prospective healthy population study. Mean age of the sample was 31 +/- 8 years. Goldmann applanation tonometry was carried out by one physician. Tonometric values were the mean of three consecutive readings. Subsequently, another physician carried out ultrasonic pachymetry with the DGH 2000 AP ultrasonic pachymeter (DGH Technology Inc, San Diego, USA). Ten measurements were made at the centre of the cornea of each eye. The low…
Metabolism of [3-14C]coumarin to polar and covalently bound products by hepatic microsomes from the rat, Syrian hamster, gerbil and humans.
1992
The metabolism of 0.19 and 2.0 mM-[3-14C]coumarin to polar products and covalently bound metabolites has been studied with hepatic microsomes from the rat, Syrian hamster, Mongolian gerbil and humans. [3-14C]Coumarin was metabolized by liver microsomes from all species to a number of polar products and to metabolite(s) that became covalently bound to microsomal proteins. The polar products included 3-, 5- and 7-hydroxycoumarins, o-hydroxyphenylacetaldehyde and o-hydroxyphenylacetic acid. Coumarin 7-hydroxylation was observed in all species except the rat. With 0.19 mM-[3-14C]coumarin, 7-hydroxycoumarin was the major metabolite in human liver microsomes, whereas in the other species with 0.1…
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical …
2008
Abstract The objective of this study was to evaluate the long-term clinical benefits and safety of recombinant human arylsulfatase B (rhASB) treatment of mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome), a lysosomal storage disease. Fifty-six patients derived from 3 clinical studies were followed in open-label extension studies for a total period of 97–260 Weeks. All patients received weekly infusions of rhASB at 1mg/kg. Efficacy was evaluated by (1) distance walked in a 12-minute walk test (12MWT) or 6-minute walk test (6MWT), (2) stairs climbed in the 3-minute stair climb (3MSC), and (3) reduction in urinary glycosaminoglycans (GAG). Safety was evaluated by compliance, adve…
Preference for attractiveness and thinness in a partner: Influence of internalization of the thin ideal and shape/weight dissatisfaction in heterosex…
2009
This study assesses whether characteristics of one's own body image influences preferences of attractiveness in a partner. The role of gender and sexual orientation is also considered. Heterosexual women (n=67), lesbian women (n=73), heterosexual men (n=61) and gay men (n=82) participated in an internet survey assessing attitudes towards the body and preferences of attractiveness in a partner. Men in particular were found to prefer attractive partners, regardless of sexual orientation. Weight/shape dissatisfaction was found to be a negative predictor for heterosexual men and women. For gay men, preferences were better explained by internalization and weight/shape dissatisfaction. No such as…
The Effect of Adaptive Nonlinear Frequency Compression on Phoneme Perception
2017
Purpose This study implemented a fitting method, developed for use with frequency lowering hearing aids, across multiple testing sites, participants, and hearing aid conditions to evaluate speech perception with a novel type of frequency lowering. Method A total of 8 participants, including children and young adults, participated in real-world hearing aid trials. A blinded crossover design, including posttrial withdrawal testing, was used to assess aided phoneme perception. The hearing aid conditions included adaptive nonlinear frequency compression (NFC), static NFC, and conventional processing. Results Enabling either adaptive NFC or static NFC improved group-level detection and recognit…