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Blood Spot Samples (blood + spot_sample)
Selected AbstractsUse of supervised injection facilities and injection risk behaviours among young drug injectorsADDICTION, Issue 4 2009María J. Bravo ABSTRACT Aims To study the use of supervised injection facilities (SIFs) as a predictor of safer injecting practices. Design Cross-sectional study conducted with face-to-face interview using a structured questionnaire with computer-assisted personal interviewing. Dried blood spot samples were collected for human immunodeficiency virus (HIV) and hepatitis C virus (HCV) antibody testing. Setting All participants were street-recruited by chain referral methods in Madrid and Barcelona. Participants A total of 249 young heroin drug injectors recruited by the ITINERE cohort study in two Spanish cities with SIFs. Measurements The main outcome measures were self-reported injecting behaviours and SIFs attendance. Results SIF users were more marginalized socially than non-users. They were also more often regular injectors (weekly or more versus sporadic) [odds ratio (OR) = 4.9, 95% confidence interval (CI): 2.7,8.8], speedball users (OR = 2.5, 95% CI: 1.5,4.3) and anti-HCV-positive (OR = 3.1, 95% CI: 1.4,7.1). In the logistic regression analysis, using SIFs was associated independently with not borrowing used syringes (OR = 3.3, 95% CI: 1.4,7.7). However, no significant association was found between SIF use and not sharing injection equipment indirectly (OR = 1.1, 95% CI: 0.5,2.2). Conclusions SIFs attract highly disadvantaged drug injectors who engage none the less in less borrowing of used syringes than non-users of these facilities. The risks of indirect sharing should be emphasized when counselling SIF attendees. [source] Newborn screening in Fragile X syndromeJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 10 2008F. Tassone Background: Screening for the FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified. However, Fragile X has not been recommended for newborn screening mainly because of the lack of an accurate screening test and of data on potential benefits. We have recently developed an improved Polymerase Chain Reaction (PCR) method for the identification of premutation and full mutation alleles for the FMR1 gene. Method: The method is inexpensive, accurate and quick and can be performed on a number of sample templates including, importantly, blood spots. We have applied this method for international screening. Specifically, we have screened 5267 anonymous blood spot samples from newborn males from the centre-northwest region of Spain. We have also used this technology to a pilot ,high risk' screening program of individuals with autism and/or intellectual disabilities and family members of a proband with fragile X initiated in Guatemala. This project is a prototype for future screening endeavours. Results: One important outcome from this study is that the frequency of premutation alleles (1 per 250) appears to be higher than previously reported. This is of importance, especially in view of the different phenotypic involvement observed in carriers of premutation alleles, including neurological problems such as FXTAS. Here, we present data on the frequency of premutation/full alleles found in this population and their size distribution. Conclusion: This project is a prototype for future screening endeavours. Results from our pilot program in both Spain and Guatemala will lend strong support for implementing this technology for rapid screening to a much larger scale population screening. [source] First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean populationMOVEMENT DISORDERS, Issue 6 2007Mélissa Frédéric MS Abstract The c.907delGAG mutation in the TOR1A gene (also named DYT1) is the most common cause of early-onset primary dystonia. The mutation frequency and prevalence have so far been only estimated from rare clinical epidemiological reports in some populations. The purpose of this study was to investigate the incidence at birth of the c.907delGAG mutation in a French-representative mixed population of newborn from South-Eastern France. We applied an automated high-throughput genotyping method to dried blood spot samples from 12,000 newborns registered in Hérault between 2004 and 2005. Only one allele was found to carry the mutation, which allows to determine its incidence at birth as 1/12,000 per year in this area. © 2007 Movement Disorder Society [source] Developmental changes in the relationship between leptin and adiposity among Tsimané children and adolescentsAMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 4 2008Katherine C. B. Sharrock Leptin is thought to signal energy stores, thus helping the body balance energy intake and expenditure. However, the strong relationship between leptin and adiposity in populations with adequate nutrition or common obesity is not universal across ecologic contexts, and leptin often correlates only weakly, or not at all, with adiposity in populations of lean or marginally-nourished males. To clarify whether the relationship between adiposity and leptin changes during development, this study examines leptin and body fat among children and adolescents of lowland Bolivia. Anthropometric measures of body composition and dried blood spot samples were collected from 487 Tsimane' ranging from 2 to 15 years of age. Leptin was assayed using an enzyme immunoassay protocol validated for use with blood spot samples. In this population, leptin concentrations were among the lowest reported in a human population (mean ± SD: 1.26 ± 0.5 and 0.57 ± 0.3 in females and males). In addition, the relationship between leptin and adiposity follows distinct developmental trajectories in males and females. In males, leptin is weakly correlated with most measures of body composition at all ages investigated. However, in females, the level of body fat and the strength of the correlation between body fat and leptin (a measure of its strength as a signal of energy stores) both increase markedly with age. These findings suggest a more important role of leptin as a signal of energy stores among females as they approach reproductive maturity, while raising questions about the function of this hormone in lean males. Am. J. Hum. Biol., 2008. © 2008 Wiley-Liss, Inc. [source] Congenital cytomegalovirus infection: the impact of cerebral cortical malformationsACTA PAEDIATRICA, Issue 9 2010M-L Engman ABSTRACT Aim:, Cytomegalovirus has been suggested to have a teratogenous influence during the migration of neural cells from the ventricular zones to the cortex during the gestational period. The aim of this study was to investigate the prevalence of congenital cytomegalovirus infections in a cohort of children with neurological disability and cerebral cortical malformations recognized by neuroimaging. Methods:, Twenty-six children with neurological disability and cerebral cortical malformations were investigated retrospectively for congenital cytomegalovirus infection by analysing the dried blood spot samples for cytomegalovirus deoxynucleic acid using qualitative polymerase chain reaction. Results:, CMV DNA in the dried blood spot samples was found in four out of 26 children. Two of these four had severe disabilities with mental retardation, autism, spastic cerebral palsy, epilepsy and deafness. A third child had epilepsy and unilateral cerebral palsy, while the fourth had a mild motor coordination dysfunction and hearing deficit. Conclusion:, In our study, the number of congenital cytomegalovirus infections in children with cerebral cortical malformations was higher (4/26) than expected with reference to the birth prevalence (0.2,0.5%) of congenital cytomegalovirus infection in Sweden. We thus conclude that congenital cytomegalovirus infection should be considered in children with cortical malformations of unknown origin. [source] | ||||||||||