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Yersinia enterocolitica: serotypes and biotypes isolated from humans and the environment in Quebec, Canada.

Thirty-one strains of Yersinia enterocolitica were isolated from food and surface water. During the period of January 1975 to June 1977, 157 strains from 143 human cases were also isolated. Among the different serotypes from nonhuman sources, serotypes 6,30 and 4,32 were the most common. Serotype 4,32 was present only in food and not in water. Serotype 3 was isolated only from humans. Among the different serotypes from human cases, 73.9% belonged to serotype 3. Only serotype 3 was isolated from children under 4 years old. The presence of other serotypes increased and that of serotype 3 decreased in frequency as the age progressed. No serotype 3 was isolated from human cases aged 50 years and more.

Adolescent↗

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

BACKGROUND: A 3 bp deletion located at the 5' end of exon 3 of MLH1, resulting in deletion of exon 3 from RNA, was recently identified. HYPOTHESIS: That this mutation disrupts an exon splicing enhancer (ESE) because it occurs in a purine-rich sequence previously identified as an ESE in other genes, and ESEs are often found in exons with splice signals that deviate from the consensus signals, as does the 3' splice signal in exon 3 of MLH1. DESIGN: The 3 bp deletion and several other mutations were created by polymerase chain reaction mutagenesis and tested using an in vitro splicing assay. Both mutant and wild type exon 3 sequences were cloned into an exon trapping vector and transiently expressed in Cos-1 cells. RESULTS: Analysis of the RNA indicates that the 3 bp deletion c.213_215delAGA (gi:28559089, NM_000249.2), a silent mutation c.216T-->C, a missense mutation c.214G-->C, and a nonsense mutation c.214G-->T all cause varying degrees of exon skipping, suggesting the presence of an ESE at the 5' end of exon 3. These mutations are situated in a GAAGAT sequence 3 bp downstream from the start of exon 3. CONCLUSIONS: The results of the splicing assay suggest that inclusion of exon 3 in the mRNA is ESE dependent. The exon 3 ESE is not recognised by all available motif scoring matrices, highlighting the importance of RNA analysis in the detection of ESE disrupting mutations.

Adaptor Proteins, Signal Transducing↗

Birth distribution in cystic fibrosis in Saguenay-Lac-St-Jean, Quebec, Canada.

Although a seasonal trend in the birth distribution has been reported in cystic fibrosis (CF), this finding is still very controversial. The birth distribution of 113 patients with cystic fibrosis born in Saguenay-Lac-St-Jean (complete ascertainment) was analysed using two different statistical methods. Our results showed no monthly or seasonal birth variation. It is likely that a bias owing to incomplete ascertainment might explain why some previous studies found a seasonal trend in the birth distribution of cystic fibrosis.

Cystic Fibrosis↗

Primary osteoarthritis and occupation in the Quebec national health and social survey.

BACKGROUND: The scientific evidence available is consistent in linking osteoarthritis (OA) and occupation but is lacking information regarding preventable risks in the workplace. AIMS: To explore the effect of different dimensions of physical demand in the relation between self reported OA and occupation. METHODS: Nationwide population survey of employed and self employed adults aged 25-64. RESULTS: Of the 11,44 workers surveyed, 3.1% (two females for one male) reported a problem with OA (any site). They reported some degree of limitations in their daily activities in a proportion that was six times higher (26.8%) than the rest of the population of the same age without OA and twice as high for absence from work in the previous year (23.8%). Of the different dimensions of risks used in the survey and controlling for age, body mass index, and smoking, "use of force with tools or machines" showed a statistically significant association with OA in males and females. In occupations significant risks of OA were identified in male unskilled labourers and skilled labourers, and in female technicians, and workers in the services sector. CONCLUSIONS: Results of the present survey indicated that occupational stresses associated with OA may differ substantially between male and female workers and that specific risks may affect the younger workforce (25-44 years old) in some occupations, including housekeeping and other ill defined skilled and unskilled labour.

Adult↗

Factors influencing the development of serum precipitins to farmer's lung antigen in Quebec dairy farmers.

A total of 888 randomly selected dairy farmers participated in an epidemiological study to evaluate the prevalence of precipitins to farmer's lung antigens, and the socioeconomic factors associated with their presence. Precipitins were present in 75 farmers (8.4%) (65 to Micropolyspora faeni, seven to Aspergillus spp, two to both Aspergillus and Micropolyspora faeni, and one to Aspergillus and Thermoactinomyces vulgaris). The titres ranged from a dilution of 1/32 to a concentration of X 2 (Ouchterlony's double diffusion method). In the study population there were 544 who had never smoked, 146 ex-smokers, and 198 smokers. Sixty nine precipitin positive subjects were either never smokers or ex-smokers; only six were smokers. The negative relationship between cigarette smoking and precipitins was highly significant (p = 0.004). Factors positively associated with positive precipitin reactions were: size of farm, time spent in the barn, and the presence of a family member previously diagnosed as having farmer's lung disease. Interestingly, positive precipitin reactions were not associated with any of the following: use of silos, hay conditioners, or hay dryers; the presence or quantity of mouldy hay; or the presence of respiratory symptoms. It is concluded that precipitin analysis is not useful as a screening method for farmer's lung, though it can be of diagnostic value in acute farmer's lung disease.

Adult↗