Spirometry reference equations for central European populations from school age to old age.

Spirometry reference values are important for the interpretation of spirometry results. Reference values should be updated regularly, derived from a population as similar to the population for which they are to be used and span across all ages. Such spirometry reference equations are currently lacking for central European populations. To develop spirometry reference equations for central European populations between 8 and 90 years of age. We used data collected between January 1993 and December 2010 from a central European population. The data was modelled using "Generalized Additive Models for Location, Scale and Shape" (GAMLSS). The spirometry reference equations were derived from 118'891 individuals consisting of 60'624 (51%) females and 58'267 (49%) males. Altogether, there were 18'211 (15.3%) children under the age of 18 years. We developed spirometry reference equations for a central European population between 8 and 90 years of age that can be implemented in a wide range of clinical settings

Protective and risk factors for childhood asthma in observational birth cohorts : the role of vitamin D and allergic rhinitis

Summary Background: Asthma is an inflammatory disease of the airways of the lung. There has been an increase in the prevalence of asthma and other allergic diseases over the past decades and, due to its high prevalence, it is of major public health concern. The reasons for this increase are still largely unknown, but interactions between various types of environmental exposures in populations with different genetic backgrounds have been proposed. Complicating matters, childhood asthma is not one disease but rather a syndrome characterised by several distinct wheezing phenotypes, rendering research even more challenging. The best way to research risk and protective factors is with birth cohorts that follow children from birth over the first years of their life, allowing temporal sequence of exposure and the development of asthma or allergic diseases to be analysed. Aim: The aim of the present thesis was to achieve an overview of birth cohorts on asthma and allergic diseases; to investigate potential risk and potential protective factors for the development of asthma in childhood; and to determine whether a tool to help monitor children with respiratory diseases throughout their life would be necessary and helpful. Methods: The overview of birth cohorts was achieved with a systematic PubMed search of all existing birth cohorts on asthma and allergic diseases. Vitamin D was investigated as a potential protective factor within the Protection against Allergy-Study in Rural Environments (PASTURE) birth cohort, which is an ongoing observational birth cohort on the development of allergic diseases in 5 European countries. Over 1,100 pregnant women were enrolled and their offspring is being followed up to the age of 6 years. Allergic rhinitis was investigated as a potential risk factor within the German Multicentre Atopy (MAS) study which is another observational birth cohort on the development of atopic diseases in early childhood in five German cities. Over 1,300 children were followed from birth to the age of 13 years. Lung function reference equations were developed using data from the LuftiBus project, (Germany, Switzerland, Austria, Finland and France)which is a mobile bus equipped with flow-sensing spirometers that tours the greater Zurich (Switzerland) area and offers spirometry measurements to the general population. Spirometry data are recorded electronically along with data on basic health and lifestyle information. Results: An overview of birth cohorts on asthma and allergic diseases with special emphasis on risk and protective factors is presented. Within the PASTURE cohort, vitamin D supplementation during pregnancy was shown to increase cord blood mRNA levels of Immunoglobulin-Like Transcripts (ILT)3 and ILT4, which are two inhibitory receptors on tolerogenic dendritic cells. This finding may point towards an early induction of tolerogenic immune responses by maternal vitamin D intake, potentially influencing the prenatal immune system and possibly the development of atopic diseases. Within the MAS cohort, allergic rhinitis in preschool children was shown to be a predictor for subsequent wheezing onset. Preschool children with rhinitis might thus benefit from early assessment of allergic sensitization to identify the children at high risk of wheezing. Within the LuftiBus project, the lung function data allowed the development of spirometry reference equations for a central European population between 8 and 90 years of age that can be implemented in a wide range of clinical settings. Conclusion: During the last decades many risk and protective factors for the development of asthma were identified but only a few have enough evidence to issue population based recommendations. As protective factor, vitamin D supplementation during pregnancy may influence the prenatal immune system and play a role in the development of atopic diseases. As risk factor, allergic rhinitis was found to be a precursor for subsequent wheezing onset. Both factors can be influenced and prospective studies are needed to determine whether they may change the prevalence of asthma and other allergic diseases. The spirometry reference equations developed are a useful tool for clinicians working in central Europe and following patients over years. As they spans across all ages they are practical to track disease progression from childhood to adulthood and assess effectiveness of therapy over time. The PhD thesis allowed a few more insights to be added to the complex entity of respiratory diseases in childhood, helping to understand risk and protective factors. The spirometry tool developed may help clinicians monitor children with respiratory diseases throughout their life. In the years to come, more research is needed to determine whether the protective and risk factors studied can be influenced and whether their alteration has any effect on the incidence of asthma

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review

We report on a 26-year-old male with profound psychomotor retardation and a pattern of dysmorphic features and malformations characteristic for duplication of the short arm of chromosome 16. He has an elongated face, sparse hair, upslanting palpebral fissures, anteverted nostrils, hypoplastic thumbs on both hands, and dislocation of several joints. His chromosome aberration was diagnosed at birth and was due to an unbalanced segregation of a maternal translocation t(2;16)(q36;p11). At 26 years of age he is, to the best of our knowledge, the oldest patient with duplication of 16p reported to date. We present a long-term observation of growth, psychomotor development, dysmorphic features and evolution of his skeletal and joint defects as well as a review of the literature

Characteristics of the study population.

<p>For age we reported medians and inter-quartile range (in brackets) since the distribution was skewed.</p><p>Other diseases include all non-lung diseases such as diabetes, heart diseases, etc.</p

Age distribution of the reference population.

<p>A comparison with the age distribution of the Swiss population in 2011 is made.</p

Comparison between the four health groups.

<p>The lung function parameter FEV1 is compared between the four health groups at ages between 8–90 years old. For this comparison only men of 175 cm and women of 165 cm were included. The 5^th quantile indicates the lower limit of normal for each group. FEV1: forced expiratory volume in one second. The four health groups are: healthy/non-smoker, healthy/smoker, sick/non-smoker and sick/smoker.</p