196,445 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)
Knaap, M.S. van der [Promotor]Mansvelder, H.D. [Promotor]Min, R. [Copromotor]Bugiani, M. [Copromotor
Erratum: An undetected burden of asthma in Italy: The relationship between clinical and epidemiological diagnosis of asthma (European Respiratory Journal 1998, 11:599-605)
This study aimed to compare questions and tests used in asthma epidemiology with clinical diagnosis of current asthma and to assess the extent of undiagnosed asthma in Italy. Thus, 811 attenders to the second stage of the European Community Respiratory Health Survey were classified by panels of respiratory physicians as current asthmatics or not. Among those with a clinical diagnosis of asthma (n=105), 69% reported current wheezing and 68% asthma with their lifetime (ever asthma), while asthma attacks in the previous year and/or current treatment for asthma (self-reported current asthma) were mentioned by only 37%. Thirty two per cent did not mention asthma at any time, but nevertheless presented a rate of hospitalization close to that of people with self-reported current asthma. On the hand, almost no subjects labelled nonasthmatics by clinicians (n=706) presented self-reported current asthma (5%) or current wheezing (9%). A model simulation showed that, in its usual range (0-15%), asthma prevalence is markedly overestimated by the question on wheezing and underestimated by the questions of self-reported current asthma, with respect to clinical judgement. Prevalence estimates close to those obtained by clinical judgement where achieve by combining asthma-like symptoms in the previous year with the results of lung function and allergological tests, but especially by using the single questions on ever asthma. In conclusion, the present results suggest that the question on ever asthma gives prevalence estimates close to those obtained by clinical judgement and that asthma is greatly underdiagnosed in Italy
Distribution and damage caused by Halyomorpha halys in Italy
Since the first occurrence of Halyomorpha halys (Heteroptera: Pentatomidae) in Italy in 2012, the pest has spread in the Po Valley causing severe damage in summer 2015, particularly in pear orchards. At present, populations of H. halys have been reported in the regions of Emilia-Romagna (Modena, Reggio Emilia and Bologna provinces), Piedmont, Lombardy, Veneto and Friuli. The damage caused by H. halys is typical of pentatomids and is aggravated by the pest's polyphagy and by the behaviour of adults which move continuously from plant to plant, from hedges or herbaceous crops to fruit orchards. The unpredictability of H. halys’ movements, along with the effect of the aggregating pheromone that concentrates the pest in certain areas of the orchards, therefore making chemical spraying complicated
Investigating indicators and determinants of asthma in young adults
In 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
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
BACKGROUND: 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
Test di provocazione bronchiale con metacolina (TPBM). Riflessioni sulle linee guida ATS 1999 – confronti con le linee guida ERS 1993.
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