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Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a familial cryptic translocation segregating in three generations. A balanced translocation was present in the mother, the maternal uncle, the aunt and the grandmother. A female first cousin with dysmorphisms, hydrocephalus and mental retardation was a carrier of a partial trisomy 1p and a partial monosomy 6q. Multiple miscarriages were present in the family pedigree. Parents of the foetus had three other pregnancies: a male with a balanced translocation, and two foetuses with 1p36.3–pter monosomy and 6q25.2–qter trisomy. Copyright © 2003 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

Night and shift work might be risk factors for metabolic and cardiovascular disorders due to interference with diet, circadian metabolic rhythms, and lifestyle. The relationship between permanent night work and metabolic and cardiovascular risk factors was explored in a retrospective longitudinal study of workers employed in a large municipal enterprise in charge of street cleaning and domestic waste collection. All subjects who had worked night shifts between 1976 and 2007 as hand sweepers, motor sweepers, and delivery tricar drivers were compared with subjects who always worked the same jobs but on day shifts. From the periodical medical surveillance files, we identified 488 male workers who had been examined on average five times (minimum 2, maximum 14) during the study period, for a total of 2,328 medical examinations; 157 always had worked day shifts, 12 always the night shift, and 319 both (initially day and subsequently night shifts). Their age ranged from 22 to 62 yrs, and work experience varied from 1 to 28 yrs. Lifestyle habits (smoking, alcohol consumption), body mass index, serum glucose, total cholesterol, tryglicerides, hepatic enzymes, blood pressure, resting electrocardiogram, diabetes, coronary heart disease, hypertension, and related drugs were taken into consideration for the analysis. We used generalized estimating equations (GEE) models (exchangeable correlation matrix) to analyze the relationship between night work and health effects while accounting for within-subject correlations and adjusting for study period, job, age, and lifestyle variables. As a whole, night workers smoked more and had significantly higher BMI, serum total cholesterol, and triglycerides than day workers. Both the inter-individual comparison between day and night workers and the intra-individual comparison among the workers, who were day workers at the beginning of their employment and later became night workers, showed a significant increase in BMI, total cholesterol, and tryglicerides associated with night work. No consistent effect was seen on fasting glucose, hepatic enzymes, and blood pressure, whereas a higher incidence of coronary heart disease was recorded in night workers.

A study was made via a clinical approach in the absence of environmental data with the aim of demonstrating a possible past exposure to asbestos in a working population that had never been examined before nor had ever undergone any specific health checks. It was deemed useful to compare this working population with a control population not exposed to asbestos. The population under study consisted of 126 employees of a single (thermonuclear) department of a metal engineering industry who reported having used asbestos as insulation material in all heat processes up to the beginning of the 1980's. Pleural plaques were observed in 13 workers that were also confirmed by high resolution TC (HRTC) except in one case. The control group consisted of subjects seen at the Clinica del Lavoro of Milan for non-asbestos related diseases in whom a fibrobronchoscopy with broncho-alveolar lavage (BAL) was performed for diagnostic purposes. In each group asbestos bodies were counted in the BAL liquid using a method with a detection limit of 0.1 bodies/ml. The asbestos bodies detected in the alveolar liquid of subjects in the control group were between a maximum of 0.25 and a minimum of 0 bodies/ml of liquid (mean = 0.03; SD = 0.64) whereas in the sample of subjects from the population under study who underwent BAL the results gave a concentration of asbestos bodies in the BAL liquid between a maximum of 9.0 and a minimum of 0.15 bodies/ml of liquid (mean = 2.38; SD = 2.72). In order to obtain a statistically significant difference between the control population, which was certainly not exposed, and the sample of subjects undergoing BAL from the population for which an occupational exposure was assumed, we applied the non-parametric Wilcoxon-Mann-Whitney test for independent samples in view of the asymmetric distribution of the values of asbestos body concentration in the alveolar liquid: the result was a statistically significant difference (p < 0.001) between the two populations. We also calculated the total asbestos bodies recovered in the BAL liquid of subjects from both populations. In the control group total asbestos bodies were between a maximum of 15 and a minimum of 0 (mean = 1.8; SD = 3.9) while in the group under study the concentration of total asbestos bodies recovered in BAL liquid was between a maximum of 990 and a minimum of 12.7 (mean = 206.5; SD = 270). The Wilcoxon-Mann-Whitney test was also applied to these data, the result of which was that the difference in exposure between the two populations was statistically significant (p < 0.001). Concluding, the study demonstrates the importance of asbestos body count in BAL liquid as an objective indicator of past occupational exposure to asbestos, thus providing documented proof that overcomes any doubts arising from case history and any lack of environmental data that could prove exposure.