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The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone.

Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited cancer syndrome caused by a mutation in one of the mismatch repair genes, most frequently MLH1 or MSH2. The rate of mutation detection is influenced by many factors, including the diagnostic methods used. Large deletions, which occur frequently in MLH1 and MSH2, are not detected by exon-by-exon screening methods. Here, we describe three mutations in mismatch repair genes detected using a screening protocol that combines protein truncation test (PTT) analysis and multiplex ligation-dependent probe amplification (MLPA) with genomic and cDNA sequencing. Two of these mutations consist of large deletions in MLH1 that were detected by both MLPA and PTT but that would have been missed by genomic DNA sequencing. The third is a large deletion in MSH2 that could not be detected by PTT because of its location relative to the primers used to amplify the cDNA, or by sequencing. This mutation was detected by MLPA.

Base Pair Mismatch↗

The Quebec complaint examination system: stakeholder perspectives on the purpose and intake of complaints.

Québec's complaint examination system has devoted considerable effort to supporting dissatisfied users who may wish to register complaints. It is open to question, however, whether this level of effort has, in fact, aided users in filing their complaints, and whether, once filed, the intake and processing of complaints has been rigorous and fair. Has the intake and handling of complaints at least improved? This is the question we shall attempt to answer here by presenting the results of our study concerning the impact of the Complaint Assistance and Support Centers (CAAPs) on the intake of complaints. The results show that the Québec complaint examination system and its Complaint Assistance and Support Centers help make complaints more admissible and ensure that each complaint is examined. However, the system is also hindered by differences and conflicting interpretations among the various stakeholders regarding the legitimacy of complaints, respect for users' rights, and the mission of the system. Although complaint examination systems seek to encourage users to express their points of view, users' voices are still only partly audible.

Counseling↗

Pathology and toxicology of beluga whales from the St. Lawrence Estuary, Quebec, Canada. Past, present and future.

An indigenous population of 450-500 beluga whales (Delphinapterus leucas) inhabiting the St. Lawrence Estuary has been exposed chronically for more than 50 years to a complex mixture of industrial pollutants including organochlorinated compounds (OC), polycyclic aromatic hydrocarbons (PAH) and heavy metals. From 1983 to 1990, we have necropsied 45 well preserved carcasses out of a total of 120 beluga whales reported dead over this period. Of these 45 animals, nine were affected by 10 malignant neoplasms. Fifteen animals (33%) were affected by pneumonia. Milk production was compromised in eight of 17 mature females (41%), by inflammatory changes (seven animals) and cancer (one animal) which affected the mammary glands. Opportunistic bacteria were found in pure culture, and/or in significant amounts in at least two organs in 20 belugas (44%). The concentrations of both total PCBs and highly chlorinated PCB congeners were much higher in St. Lawrence animals than in Arctic beluga whales. OC-induced immunosuppression has been repeatedly demonstrated in a wide variety of animal species. Therefore, it is probable that the immune functions of St. Lawrence beluga whales are impaired. Benzo[a]pyrene adducts were detected in 10 of the 11 St. Lawrence beluga whales of which tissues (six livers, 10/11 brains) were analyzed by a method based on HPLC. No such adducts were found in four Arctic animals. Since benzo[alpha]pyrene is one of the most potent chemical carcinogens known to man, these compounds might be responsible for some of the cancers observed in that population. Overall, our findings contrast vividly with those of others who found that cancers are exceedingly rare in free-ranging odontocete populations and that the major causes for mortalities in these populations are bacteria, parasites, and trauma.

Animals↗

Unusually high blood cadmium associated with cigarette smoking among three subgroups of the general population, Quebec, Canada.

Blood cadmium levels were measured in 554 persons without any known professional exposure to this metal. They were grouped in three samples; one entirely of 142 Inuit, one of 212 caucasian city dwellers and one of 200 caucasian rural residents. While blood cadmium levels measured in non-smokers are comparable to those reported in published reports, those of current cigarette smokers were 10-20 times higher than non-smokers. These blood cadmium values stand in sharp contrast to what has been published so far and make the average smokers of Canadian-made cigarettes medically unfit for employment in jobs associated with potential cadmium exposure.

Adolescent↗

The other face of development: native population, health status and indicators of malnutrition--the case of the Cree and Inuit of northern Quebec.

The cultural setting of the isolated Cree Indian and Inuit communities is described and measures of their health examined. Questionnaires were employed to consider both epidemiological and socio-cultural facets and physical examination evaluated serological indicators of nutritional status. Changes of lifestyle toward store purchased food and a lessened reliance on hunting and fishing along with the non-native nature of the health services available seem to be leading to heart conditions, hypertension and diabetes all of which give cause for concern.

Adolescent↗

[Pesticides and cancer in a Quebec rural farming population: a geographical interpretation].

Data on the use of pesticides in agriculture and three types of cancer among the rural farm population were compiled for 34 drainage basins of the province of Québec for 1982 and 1983. The basins were divided following three categories of exposure (low, intermediate, high) on the basis of the level of pesticides sales. Results at the scale of the three categories show that among women living in rural farm areas, the relative risk (RR) for cancers of the lymphatic tissues is of 1.62 when highly exposed basins were compared to low exposed basins (95% Confidence Interval = 1.16; 2.25), and of 1.63 (95% CI = 1.08; 2.45) when they were compared to basins with intermediate exposure. For women of 35-64 age group, RR values are respectively of 3.15 (95% CI = 1.67; 5.93) in the first case, and 3.73 (95% CI = 1.54; 9.01) in the second case. By another way, at the level of the 34 drainage basins, correlation analysis have shown statistically significant positive associations between several variables representing pesticides utilization in agriculture and geographic variations of some cancers, according to sex and age groups, especially for the following: men, cancer of the brain (1-14 and 15-34 age groups), cancers of the lymphatic tissues (34-64) and leukaemia (1-14); for women, cancer of the brain (35-64), the lymphatic tissues (35-64, 65 and more, all ages) and leukaemia (15-34, 35-64, 65 and more and all ages). After that, principal components analysis has been performed using variables representing pesticides utilization and socio-economic status by basin. Height factors have been produced, including two socio-economic and six pesticides-factors. Factor scores have been introduced in multiple regression analysis to see the role of each factor in the explanation of spatial distribution of those cancers who had been identified in the correlation analysis before. Results have shown that in most of the cases, only pesticides-factors have significant relationship with those cancers. Socio-economic factors play a significant role only for the following cancers: men, lymphatic tissues, 65 years old and more; women, cancer of the brain all ages, leukaemia 1-14 and 65 years old and more. However, these results must be interpreted with caution for the goal of the study is to describe potential relationships.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

[Spatial distribution of cancer incidence by anatomic site in Quebec].

Knowledge of the spatial distribution of diseases provides useful information in etiologic research and in implementation of preventive activities in community health. Spatial autocorrelation analysis is one of the various methods that enables to determine spatial clustering of diseases. This method has not been applied to lung, stomach and colon cancer in Québec. These cancers are frequent and are associated with environmental factors. The objectives of the study are to determine spatial distribution of incidence rates of these cancer sites by sex and to help generate etiologic hypotheses. Community health departments (CHDs) of residence are considered as risk markers since their population and environment may be related to the selected cancer sites. Data were obtained from Québec Cancer Registry. Rates were standardized by the direct method. Autocorrelation analysis was done through BW coefficient and Moran's coefficient I for correlograms. Results of standardized rates were compared to those of non standardized rates. Rates yielded the same results for the BW coefficient. Conversely, results were quite different for the correlograms. This implies that results from standardized rates should be kept since the age structure of CHD populations are different. Important variation in the level of spatial autocorrelation was found among the six sex-specific cancer sites. For male lung cancer and male stomach cancer first-order neighbouring CHDs showed similar incidence rates according to a geographic gradient. Female lung cancer exhibited spatial autocorrelation. Absence of spatial autocorrelation for colon cancer suggests that CHD is not the appropriate scale for study of this cancer and allows use of conventional epidemiologic methods. These results are discussed in relation to current etiologic hypotheses.(ABSTRACT TRUNCATED AT 250 WORDS)

Cluster Analysis↗

Epidemiological study of parasite infection in a cow-calf beef herd in Quebec.

The patterns of gastrointestinal and pulmonary nematode infections in a previously untreated Aberdeen Angus cow-calf herd were observed between May 1988 and December 1990. The cow-calf herd and replacement heifers were on separate pastures. The relatively high mean faecal egg counts of cows and heifers at the time of turnout were mainly owing to the maturation of hypobiotic worms. The strongyle egg counts of calves began to rise soon after turnout onto pasture and reached peak levels at the end of the grazing season. The number of infective larvae on pasture was highest during September/October. Ostertagia, Cooperia and Nematodirus were the most prevalent genera found at necropsy and on pasture. Larvae of these nematodes were able to overwinter on pasture and Ostertagia larvae, additionally, were able to overwinter in the host as arrested early fourth stage larvae. The high egg output of cows at the time of turnout may serve as a source of infection for their calves and be responsible for the late-season rise in pasture larval counts.

Animals↗