1,721,189 research outputs found
Water and ion homeostasis in the developing brain: using disease models to understand physiology: A study of megalencephalic leukoencephalopathy with subcortical cysts (MLC)
Full text linkKnaap, M.S. van der [Promotor]Mansvelder, H.D. [Promotor]Min, R. [Copromotor]Bugiani, M. [Copromotor
Investigating indicators and determinants of asthma in young adults
No full textIn epidemiological studies on asthma determinants an extreme variability in results exists, probably due to different criteria utilised for defining of an asthma 'case' and for measuring determinants. We aimed to assess multiple indicators and multiple determinants of asthma in young adults by applying latent variable mixture models (LVMMs), a novel statistical modelling with hidden (or latent) variables. METHODS: We consider the pooled data of 1103 subjects (aged 20-44 years) from the three Italian centres of the European Community Respiratory Health Survey (ECRHS 1), a standardised database. Underlying multiple asthma indicators (clinicians' diagnosis, self-report symptoms, respiratory trials) both a latent two-class of asthma syndrome, and three continuous latent variables (severity of diagnosed asthma, severity of asthma symptoms, and severity of respiratory function) were investigated. RESULTS: Family history was the more relevant predictor of the two-class of asthma syndrome with a risk increase of about 60% per 1 relative with early life events (OR = 1.60, 95% CI: 1.30-1.97). Smoking, active and passive, are predictive for the indicators of severity of asthma symptoms. On average the risk increase of about 10% (OR = 1.10, 95%CI: 1.01-1.20) either per 1 source point of environmental tobacco smoke (ETS) or per 1 packet a day per 10 years. While, the risk of the indicators of both severity of asthma symptoms (OR = 1.59, 95%CI: 1.23-2.06) and severity of respiratory function (OR = 1.37, 95%CI: 1.03-1.82) increase in women compared to men, the risk of the indicators of severity of diagnosed asthma (OR = 0.57, 95%CI: 0.35-0.91) decreases. CONCLUSIONS: Considering latent modelling perspective for formulating plausible hypotheses in asthma research, this study highlighted that the host (genetic) component measured as number of relatives with life-events of asthma and/or allergies seems to be the primary determinants of overall observed asthma indicators summarised by hidden two-class of asthma syndrome. Furthermore, a secondary (or trigger) role of smoking on the continuous latent variable of severity of asthma symptoms, and a gender reversal effect were suggested
Test di provocazione bronchiale con metacolina (TPBM). Riflessioni sulle linee guida ATS 1999 – confronti con le linee guida ERS 1993.
No full textNovel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
No full textBACKGROUND: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. METHODS: We describe a patient with atypical, long surviving Leigh syndrome carrying two novel mutations in the COX15 gene, which encodes an enzyme involved in the biosynthesis of heme A. RESULTS: Only two COX15 mutated patients, one with severe neonatal cardiomyopathy, the other with rapidly fatal Leigh syndrome, have been described to date. In contrast, our patient had a slowly progressive course with no heart involvement. COX deficiency was mild in muscle and a normal amount of fully assembled COX was present in cultured fibroblasts. CONCLUSIONS: The clinical and biochemical phenotypes in COX15 defects are more heterogeneous than in other conditions associated with COX deficiency, such as mutations in SURF1
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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