Prenatal features of Noonan syndrome: prevalence and prognostic value.

OBJECTIVE: Noonan syndrome (NS) is a common autosomal dominant developmental disorder, mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. We have reviewed the prenatal findings in NS and we have correlated them with genotype and postnatal phenotype. METHODS: The cohort consisted of 47 patients with molecular diagnosis of NS. Prenatal and postnatal phenotypes were assessed by analysis of medical records, and clinical follow-up. Postnatal clinical phenotype, congenital heart disease, neuropsychomotor development, and growth pattern were arbitrarily scored in terms of severity. RESULTS: Mean age at diagnosis of NS was 7 years (ranging from birth to 38 years). Abnormal maternal serum triple screen was present in 36% of cases, nuchal translucency > 2.5 mm in 41%, polyhydramnios in 38% and fetal anomalies at prenatal ultrasonography in 21%. No statistical association was observed between prenatal findings and NS genotype or scores of postnatal clinical phenotype, congenital heart disease, neuropsychomotor development, or short stature. Presence of morphologic fetal anomalies at ultrasonography was associated with developmental delay/intellectual disabilities (p < 0.001) and juvenile myelomonocytic leukaemia (p = 0.006). CONCLUSIONS: Abnormal prenatal findings are frequent in NS pregnancies, though they are not specific and most are not useful for the prediction of the postnatal phenotype.

Reported prevalence and co-morbidity of asthma, chronic bronchitis and emphysema: a pan-European estimation.

OBJECTIVE: Comparable population-based data exist at the European level for asthma but not for chronic obstructive pulmonary disease. Data from the World Health Organization's Large Analysis and Review of European Housing and Health Status Study conducted in random samples from eight European cities were used 1) to describe the prevalence of chronic bronchitis and emphysema (CBE) and asthma according to socio-demography, addictions, physical activities and body mass index; and 2) to identify the co-morbidities of these respiratory diseases. DESIGN: A total of 6915 adults filled out a standardised questionnaire on health outcomes, including major respiratory diseases and individual characteristics. RESULTS: Data showed that in the year preceding the survey, 3.3% of individuals had been diagnosed or treated for asthma and 6.2% for CBE. One per cent suffered simultaneously from both. Large variations were observed between cities. Physical activities and never smoking were inversely associated with CBE, independently of socio-cultural differences between the eight cities. Furthermore, both asthma and CBE were significantly related to several non-respiratory diseases, after adjustment for potential confounders. CONCLUSION: Population-based data from eight European cities show that there is a link between chronic respiratory diseases and various non-respiratory co-morbidities that needs further investigation.

Air pollution and atopy.

Relationships between air pollutants and atopy can be studied within 3 different settings. In vitro, exposure of pollen to air pollutants induce morphological changes and seems to facilitate extrusion on allergenic material out of the pollen grain. In animal as well as in human experiments, air pollutants, especially diesel exhaust particulates, are able to trigger an IgE-response. Epidemiological surveys also show that air pollutants trigger symptoms in patients. In contrast, whether or not air pollutants can induce de novo allergic diseases is still a matter of debate. Some surveys suggest that, in humans also, air pollutants, especially diesel-exhaust particulates, could trigger allergic sensitization and development of atopic diseases. At home, other pollutants can be involved: volatile organic compounds have pro-inflammatory properties and favour T-cell sensitization. Relationship between exposure to secondhand tobacco smoke or occupational hazards and atopic sensitization have led to discordant results.

Wall relative humidity: a simple and reliable index for predicting Stachybotrys chartarum infestation in dwellings.

UNLABELLED: Because the indoor mold Stachybotrys chartarum has been considered as potentially responsible for serious health effects, its identification in dwellings with water damages is of utmost importance. As such dwellings are many, it would be of great value to have a simple and reliable index for predicting its presence. The aim of the study was to compare measurements of wall relative humidity (RH) to mold identification in 458 samples from 100 dwellings. Mold identification was performed by direct microscopic examination of a sample collected on the wall by the gummed paper technique. Mean (+/- s.d.) wall RH (%) was much higher (97.0 +/- 6.1) on the 30 samples where S. chartarum was identified compared with the 291 samples where other molds were identified (41.8 +/- 36.9) and to the 137 samples where no molds were identified (38.9 +/- 34.8). There was no straightforward relationship between wall and room RH. In conclusion, this study clearly demonstrate that the simple measurement of wall RH can be used as a reliable index for discarding and suspecting S. chartarum infestation in dwellings. PRACTICAL IMPLICATIONS: This paper suggests that very high relative humidity (RH) within walls is a strong risk factor for their infestation with the 'toxic mold' Stachybotrys chartarum. Besides, data from the literature demonstrate that other molds are able to produce mycotoxins when RH is very high. Thus, measurement of wall RH, which is easy to perform and very cheap, could be used as a screening tool to select those dwellings where mold identification should be performed and remediation should be promptly carried out.

Visits to the emergency room for asthma attacks and short-term variations in air pollution. A case-crossover study.

BACKGROUND: The 'case-crossover' design is a strategy fitted to studying transient effects of intermittent exposure on acute-onset disease occurring shortly after exposure. It has the important advantage of eliminating most confounding variables, allowing a stronger causality inference. OBJECTIVES: The objective of the study was to evaluate the relationships between emergency room (ER) visits for asthma attacks and gaseous air pollution changes. METHODS: The study included 549 individuals, 3-49 years old, visiting the ER during 1 year. Exposure to gaseous air pollutants (SO2, NO2, O3) on the same day and up to 4 days before was computed according to the patient's address. The statistical analysis included meteorological data as potential confounding variables. RESULTS: No association could be shown between ER visits and SO2 or NO2 levels. In contrast, there was a statistically significant association between ER visits and mean O3 levels, on the day of admission and also on D -2 and D -3. For an increase of 10 microg/m3, the risk of requiring an ER admission increased by 6-10%. CONCLUSIONS: Using this new strategy, we confirmed that ozone changes lead to a moderate increase in risk of requiring an ER admission in asthmatic subjects.