Search results for "FRAM"
showing 10 items of 2142 documents
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
2001
We identified three distinct mutations and six mutant alleles in GDAP1 in three families with axonal Charcot-Marie-Tooth (CMT) neuropathy and vocal cord paresis, which were previously linked to the CMT4A locus on chromosome 8q21.1. These results establish the molecular etiology of CMT4A (MIM 214400) and suggest that it may be associated with both axonal and demyelinating phenotypes.
Goals and Principles of Providers Working with People Experiencing Homelessness: A Comparison Between Housing First and Traditional Staircase Service…
2019
Contains fulltext : 207157.pdf (Publisher’s version ) (Open Access) The implementation and adaptation of the Housing First (HF) model represented profound changes the structure and delivery, goals, and principles of homeless services. These features of homeless services directly influence providers, their work performance and the clients' outcomes. The present research, conducted in eight European countries, investigated how social providers working in HF or TS (Traditional Staircase) describe and conceptualize the goals and the principles of their services. Data were collected through 29 focus group discussions involving 121 providers. The results showed that HF and TS had similar and diff…
Coronary artery disease: seeing or foreseeing?
2013
This editorial refers to ‘Discordance between Framingham Risk Score and atherosclerotic plaque burden’, by A. Pen et al., doi:10.1093/eurheartj/ehs473 The prevention of cardiovascular disease (CVD) has been a major priority and challenge for policy-makers and healthcare workers for at least five decades. In this ‘co-ordinated set of actions, at public and individual level, aimed at eradicating, eliminating, or minimizing the impact of CVDs and their related disability’,1 the capacity to predict the presence of coronary atherosclerosis obviously plays a central role. Studies show that the combination of a few major risk factors is an easily accessible proxy for risk stratification: the Europ…
Combined effects of type and depth of counting chamber, and rateof image frame capture, on bull sperm motility and kinematics
2019
Semen quality assessment requires accurate, reliable and objective methods for examination of sperm variables including sperm motility. For preparation of semen samples for artificial insemination, as a genetic resource, samples that are used for insemination need to have the capacity to result in a highly acceptable fertility rate. Several methods have been developed for evaluation of bull sperm in laboratory conditions and for preparation of doses for artificial insemination. Computer-assisted semen analyses can provide objective information on various sperm variables. Nevertheless, this equipment requires fine-calibrations considering differences among species, breeds and conditions for …
Generation and characterization of three monoclonal IgM antiphospholipid antibodies recognizing different phospholipid antigens.
2005
Antiphospholipid antibodies (APLs) might be involved in the pathogenesis of the antiphospholipid syndrome (APS). This study analyzes the structural characteristics of monoclonal APLs derived from patients with this disease. Patient-derived B cells were immortalized using Epstein-Barr virus transformation and subsequent fusion to the myeloma cell line CB-F7. APL-producing hybridomas were cloned to obtain cell lines producing monoclonal APL. DNA encoding the variable region of heavy and light chains of the antibodies was sequenced and analyzed regarding their usage within the V-gene family and the existence of somatic hypermutation. Binding patterns of APL to various phospholipids and beta-2-…
Homocysteine and long-term recurrent infarction following an acute coronary syndrome.
2021
En Cardiology Journal. Gdańsk (Polonia) : Via Medica. Vol. 28, n. 4 (01 jul. 2021), pp. 598-606. ISSN 1897-5593. e-ISSN 1898-018X. Este artículo se encuentra disponible en la siguiente URL: https://journals.viamedica.pl/cardiology_journal/article/view/CJ.a2020.0170/52602 En este artículo de investigación también participan: Maria Marco, Teresa García-Ballester, Begoña Zorio, Eduardo Núñez, Francisco J. Chorro, Juan Sanchis y Julio Núñez. Background: There are no well-established predictors of recurrent ischemic coronary events after an acute coronary syndrome (ACS). Higher levels of homocysteine have been reported to be associated with an increased atherosclerotic burden. The primary endpoi…
Hunter disease before and during enzyme replacement therapy.
2011
Mucopolysaccharidosis type II (Hunter disease) is a lysosomal storage disease attributable to X-linked deficiency of the enzyme α-L-iduronate-sulfatase. Because of this deficiency, glycosaminoglycanes accumulate in various tissues and body fluids. We describe three patients representing the broad spectrum of Hunter disease and their response to enzyme replacement therapy. Patient 1 did not manifest central nervous system involvement, patient 2 manifested moderate neurologic disease, and patient 3 had already manifested a severe neurologic course during early infancy. In all patients, improvements in visceral organ size, physical capacity, and gastrointestinal functioning were reported. More…
Insufficient control of heart rate in stable coronary artery disease patients in Latvia
2014
Background and objective:\ud Heart rate (HR) ≥70 beats per minute (bpm) increases cardiovascular risk in coronary artery disease (CAD) patients. The objective of the analysis is to characterize HR as well as other clinical parameters in outpatients with stable CAD in Latvia.<p></p>\ud \ud Materials and methods:\ud CLARIFY is an ongoing international registry of outpatients with established CAD. Latvian data regarding 120 patients enrolled in CLARIFY and collected at baseline visit during 2009–2010 were analyzed.<p></p>\ud \ud Results:\ud The mean HR was 67.7 ± 9.5 and 66.9 ± 10.7 bpm when measured by pulse palpation and electrocardiography, respectively. HR …
Development of a Risk Score for Atrial Fibrillation in the Community; The Framingham Heart Study
2009
Atrial fibrillation contributes to substantial increases in morbidity and mortality. We aimed to develop a risk score to predict individuals' absolute risk of developing the condition, and to provide a framework for researchers to assess new risk markers.We assessed 4764 participants in the Framingham Heart Study from 8044 examinations (55% women, 45-95 years of age) undertaken between June, 1968, and September, 1987. Thereafter, participants were monitored for the first event of atrial fibrillation for a maximum of 10 years. Multivariable Cox regression identified clinical risk factors associated with development of atrial fibrillation in 10 years. Secondary analyses incorporated routine e…
Polyunsaturated fatty acids interact with the PPARA-L162V polymorphism to affect plasma triglyceride and apolipoprotein C-III concentrations in the F…
2005
Peroxisome proliferator-activated receptor alpha (PPARalpha) is a nuclear transcription factor regulating multiple genes involved in lipid metabolism. It was shown that a common leucine to valine (L162V) substitution at the PPARalpha gene (PPARA) is functional and affects transactivation activity of PPARalpha ligands, such as PUFA, on a concentration-dependent basis. The current study examined this gene-nutrient interaction in relation to plasma lipid variables in a population-based study consisting of 1003 men and 1103 women participating in the Framingham cohort and consuming their habitual diets. We found significant gene-nutrient interactions between the L162V polymorphism and total PUF…