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PubMed1996

Autosomal recessive disorders in Saguenay-Lac-Saint-Jean (Quebec, Canada): a study of inbreeding.

Saguenay Lac-Saint-Jean (SLSJ) is a geographically isolated region of northeastern Quebec in which several autosomal recessive disorders have a high incidence. We calculated the inbreeding coefficients of 567 probands and compared them to 1701 matched control individuals. The mean inbreeding coefficient of the group containing all 567 probands was 2.73 times higher than that of the controls (0.001772 versus 0.00065). Thirteen percent (75/567) of the probands were inbred, but only 5% were born to matings between spouses related as second-degree cousins or closer. No marriage between uncle and niece and only two marriages between first-degree cousins were identified in the disorder group. These results strongly suggest that the high incidence of the autosomal recessive disorders in SLSJ is the result of a founder effect.

Consanguinity↗
PubMed1996

A study of inbreeding and kinship in intracranial aneurysms in the Saguenay Lac-Saint-Jean region (Quebec, Canada).

The genealogies of 533 individuals with an intracranial aneurysm (IA) born in the Saguenay-Lac-Saint-Jean region, a geographically isolated area located in northeastern Quebec, were reconstructed using a population-based register. A control group consisting of three individuals of the same sex and born on the same day and in the same municipality than the IA patients was created; the genealogies of the 1599 controls were also reconstructed. The coefficients of inbreeding and kinship were calculated. Familial aggregation, i.e. the presence of IA in two or more first- to third-degree relatives, was also sought. The mean inbreeding coefficient was lower in the IA group than in the control group (7.92 x 10(-4) versus 10.04 x 10(-4)). The mean kinship coefficient was higher in the IA group than in the control group (2.17 x 10(-4) versus 1.55 x 10(-4)). Forty-eight IA patients (9.0%) were first-degree relatives compared to only 1.9% of the control individuals. The proportion of individuals showing familial aggregation was higher in the IA group than in the control group (29.8% and 18.6% respectively). These results strongly suggest that some IA are genetically determined in this population.

Consanguinity↗
PubMed2006

Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis.

BACKGROUND: The Quebec platelet disorder (QPD) is inherited and characterized by delayed-onset bleeding following hemostatic challenge. Other characteristics include increased expression and storage of active urokinase-type plasminogen activator (u-PA) in platelets in the setting of normal to increased u-PA in plasma. There is also consumption of platelet plasminogen activator inhibitor-1 and increased generation of plasmin in platelets accompanied by proteolysis of stored alpha-granule proteins, including Factor V. AIMS AND METHODS: Although fibrinolysis has been proposed to contribute to QPD bleeding, the effects of QPD blood and platelets on clot lysis have not been evaluated. We used thromboelastography (TEG), biochemical evaluations of whole blood clot lysis, assessments of clot ultrastructure, and perfusion of blood over preformed fibrin to gain insights into the disturbed hemostasis in the QPD. RESULTS: Thromboelastography was not sensitive to the increased u-PA in QPD blood. However, there was abnormal plasmin generation in QPD whole blood clots, generated at low shear, with biochemical evidence of increased fibrinolysis. The incorporation of QPD platelets into a forming clot led to progressive disruption of fibrin and platelet aggregates unless drugs were added to inhibit plasmin. In whole blood perfusion studies, QPD platelets showed normal adherence to fibrin, but their adhesion was followed by accelerated fibrinolysis. CONCLUSIONS: The QPD is associated with "gain-of-function" abnormalities that increase the lysis of forming or preformed clots. These findings suggest accelerated fibrinolysis is an important contributor to QPD bleeding.

Blood Platelet Disorders↗
PubMed1992

Prevalence of non-cavitated and cavitated carious lesions in a random sample of 7-9-year-old schoolchildren in Montreal, Quebec.

This report describes the prevalence of non-cavitated and cavitated carious lesions in 911 randomly selected children in grades one through three on the Island of Montreal, Quebec, Canada. The criteria for diagnosis were developed for a longitudinal epidemiological study of restorative treatment decisions by dentists practising under a provincial dental insurance program for children. The intra- and inter-examiner reliability correlation coefficients of the two examiners were excellent (Kappa > or = 0.80). The most frequent carious lesion found in the examined children were non-cavitated carious lesions (incipient) within 1.5 of the gingival line on smooth tooth surfaces, and stained or non-cavitated carious lesions on pits and fissures. Out of 911 children in the study, 19.6% had sealants. Children whose parents completed a university education had a significantly lower prevalence of non-cavitated and cavitated carious lesions and fillings, and a significantly higher mean number of sealants than children whose parents had only primary school education. Education status of the parents was a significant risk marker of children with high caries experience and these children had a significantly higher mean number of non-cavitated carious lesions. This study has found that non-cavitated carious lesions are significantly more prevalent than cavitated carious lesions in children.

Chi-Square Distribution↗
PubMed1979

Clinical measurement in Quebec chrysotile miners: use for future protection of workers.

There is a relationship between dust exposure, on the one hand, and serious disease and death, on the other, in chrysotile asbestos mine and mill workers of Quebec. Studies in current working populations indicate that prevalence of abnormality increases with increasing exposure. However, the relationship is weak and offers only a partial explanation of between-subject variability. In addition, there is no certain way to detect or predict change. Because of the relative nonspecificity of the health measurements examined and their poor relationship to exposure, control should be based on environmental monitoring, with biologic monitoring considered in a complementary role. This leaves the clinician with the dilemma of how best to advise the worker in whom questionable changes have been detected. At present, there appears little doubt that the decision must remain essentially clinical, based, on one hand, on all available information about the man, his job, and the plant or mine in which he works, from which an estimate of likely outcome must be made, and, on the other hand, on the social and human factors concerned, including the fact that removal from exposure does not necessarily prevent the appearance of abnormality.

Asbestos↗
PubMed2000

pncA mutations as a major mechanism of pyrazinamide resistance in Mycobacterium tuberculosis: spread of a monoresistant strain in Quebec, Canada.

Pyrazinamide (PZA) is an important first-line tuberculosis drug that is part of the currently used short-course tuberculosis chemotherapy. PZA is a prodrug that has to be converted to the active form pyrazinoic acid by pyrazinamidase (PZase) activity, encoded by the pncA gene of Mycobacterium tuberculosis, and loss of PZase activity is associated with PZA resistance. To further define the genetic basis of PZA resistance and determine the frequency of PZA-resistant strains having pncA mutations, we sequenced the pncA gene from a panel of 59 PZA-resistant clinical isolates from Canada, the United States, and Korea. Two strains that did not contain pncA mutations and had positive PZase turned out to be falsely resistant. Three PZase-negative strains (MIC, >900 microgram of PZA per ml) and one PZase-positive strain (strain 9739) (MIC, >300 microgram of PZA per ml) did not have pncA mutations. The remaining 53 of the 57 PZA-resistant isolates had pncA mutations, confirming that pncA mutation is the major mechanism of PZA resistance. Various new and diverse mutations were found in the pncA gene. Interestingly, 20 PZA-monoresistant strains and 1 multidrug-resistant isolate from Quebec, Canada, all had the same pncA mutation profile, consisting of an 8-nucleotide deletion and an amino acid substitution of Arg140-->Ser. Strain typing indicated that these strains are highly related and share almost identical IS6110 patterns. These data strongly suggest the spread of a PZA-monoresistant strain, which has not previously been described.

Amidohydrolases↗
PubMed1986

Phage types of Staphylococcus aureus received at the Quebec Public Health Laboratory from 1976 to 1983.

Phage typing of 13,579 clinical and environmental strains of Staphylococcus aureus received at the Quebec Public Health Laboratory between 1976 and 1983 was routinely performed to assess the distribution of lytic groups. Strains susceptible to phages 94, 95, and 96 predominated and accounted for 25% of the specimens. The distribution of strains in lytic groups varied with time and specimen source.

Bacteriophage Typing↗
PubMed2001

Surveillance of invasive Streptococcus pneumoniae infection in the province of Quebec, Canada, from 1996 to 1998: serotype distribution, Antimicrobial susceptibility, and clinical characteristics.

In the province of Quebec, Canada, from 1996 to 1998, 3,650 invasive Streptococcus pneumoniae infections were reported. A total of 1,354 isolates were serotyped and tested for antimicrobial susceptibility. The distribution of serotypes remained stable over the 3 years, with serotypes 14, 6B, 4, 9V, 23F, and 19F accounting for 61% of the isolates. Overall, 90% of isolates were included in the current 23-valent vaccine and 67% were included in the 7-valent conjugate vaccine. We were able to determine that resistance to penicillin and to other antibiotics is increasing.

Adolescent↗
PubMed2005

Understanding the dimensions of socioeconomic status that influence toddlers' health: unique impact of lack of money for basic needs in Quebec's birth cohort.

STUDY OBJECTIVES: To examine the unique impact of financial difficulties as measured by a lack of money for basic needs on the occurrence of health problems between the ages of 17 and 29 months, controlling for mother's level of education and neonatal health problems. DESIGN AND PARTICIPANTS: Analyses were performed on the 29 month data of the Quebec longitudinal study of child development. This longitudinal study followed up a birth cohort annually. Interviews were conducted in the home with the mother in 98.8% of cases. This information was supplemented with data from birth records. At 29 months, the response rate was 94.2% of the initial sample (n = 1946). The main outcome measures were mothers' report of acute health problems, asthma episodes, and hospitalisation as well as growth delay and a composite index of health problems (acute problems, asthma attack, growth delay). MAIN RESULTS: Children raised in a family experiencing a serious lack of money for basic needs during the preceding year were more likely to be reported by their mothers as presenting acute health problems, a growth delay, two or more health problems, and to have been hospitalised for the first time within the past few months as compared with babies living in a family not experiencing a lack of money for basic needs regardless of the mother's level of education and of neonatal health problems. CONCLUSION: Financial difficulties as measured by a lack of money for basic needs have a significant and unique impact on toddlers' health.

Acute Disease↗
PubMed1980

Radiological findings as predictors of mortality in Quebec asbestos workers.

Two cohorts of chrysotile miners and millers in Quebec were selected to study the extent to which chest radiographs taken while still employed predict mortality. The paper presents mainly findings in much the larger cohort, which consisted of 4559 men (two-thirds past workers) whose latest radiograph had been assessed by one of six experienced readers into what became the UICC/Cincinnati (U/C) classification; by the end of 1975 there had been 1543 deaths in this cohort. The findings were generally confirmed in the other cohort, comprising 988 current male workers, who had been examined in 1967-8 by questionnaires on respiratory symptoms and smoking and by lung function tests, and for whom all six readers had assessed their 1966 radiographs into the U/C classification; 130 men had died by the end of 1975. Men with any radiographic abnormality, heavy dust exposure, or a history of cigarette smoking had relative risks (RRs) of total mortality greater than unity. Death from pneumoconiosis was associated with small parenchymal opacities, usually irregular, of profusion l/l or more, and with heavy dust exposure but not with smoking. Most who died from lung cancer had smoked cigarettes, or had been heavily exposed to dust, or both. Small parenchymal opacities were present in most but not all the excess deaths due to lung cancer. Deaths from other malignant diseases showed no consistent dust or x-ray patterns. RRs of deaths from most other causes were raised for certain radiographic features. Failures in forecasting mortality were primarily due to deaths in which asbestos-related disease was not the primary cause but may have been a contributing factor. The main findings validated the U/C classification convincingly, particulary as the films had been taken as routine and were of modest quality. Despite objective rules for the reading and the fact that all six readers were contributing to the development of the classification, there was inevitably some observer variation. The importance of radiographic technique and the need for careful control of the reading is evident. Our results provide support for the use of the chest radiograph for surveillance of asbestos workers, and for environmental monitoring. Its protective value for individual workers, however, is limited to the extent that radiological progression continues after withdrawal from exposure, and by the carcinogenic risk associated with dust already retained.

Adult↗
PubMedDate not supplied

Selected plant species from the Cree pharmacopoeia of northern Quebec possess anti-diabetic potential.

Type II diabetes is a major health problem worldwide. Some populations, such as aboriginal peoples, are particularly at risk for this disease. In the Cree Nation of Quebec, Canada, prevalence in adults is approaching 20%, and the consequences are compounded by low compliance with modern medicine. In 2003, we conducted an ethnobotanical study of Cree medicinal plants used for the treatment of symptoms of diabetes. This served as the basis for a project designed to identify efficacious complementary treatment options more readily accepted by this population. The present study assesses the in vitro anti-diabetic potential of extracts from the 8 most promising plants to emerge from the ethnobotanical study. Cell-based bioassays were employed to screen for (i) potentiation of glucose uptake by skeletal muscle cells (C2C12) and adipocytes (3T3-L1); (ii) potentiation of glucose-stimulated insulin secretion (GSIS) and insulin production by pancreatic beta cells (INS 832/13); (iii) potentiation of triglyceride accumulation in differentiating 3T3-L1 cells; (iv) protection against glucose toxicity and glucose deprivation in pre-sympathetic neurons (PC12-AC). Additionally, anti-oxidant activity was measured biochemically by the diphenylpicrylhydrazyl (DPPH) reduction assay. All plant extracts potentiated basal or insulin-stimulated glucose uptake to some degree in muscle cells or adipocytes. Adipocyte differentiation was accelerated by 4 extracts. Five extracts conferred protection in PC12 cells. Three extracts displayed free radical scavenging activity similar to known anti-oxidants. None of the plant extracts enhanced GSIS or insulin content in INS 832/13 beta cells. It is concluded that the Cree pharmacopoeia contains several plants with significant anti-diabetic potential.

3T3-L1 Cells↗
PubMed1981

Teleradiology in northern Quebec.

A two-way television network using the Canadian satellite ANIK-B was utilized to transmit radiographic images from Northern Quebec to Montreal. The accuracy of the radiologist's interpretation and his satisfaction with the TV system were studied using a series of 67 preselected cases and 425 current clinical cases. The four participating radiologists gave correct TV interpretations in 81% of the 39 selected cases presented at the beginning of the experiment. This value reached 94% for the other 28 selected cases presented after three months of regular use of the TV system. With current clinical cases, the agreement between TV and direct interpretations was 93%. Although magnification was available, correct identification of very small lesions proved to be the major source of error. On the whole, the radiologists were satisfied with the TV system.

Adult↗
PubMed1989

Familial factors in Alzheimer's disease (IMAGE project). A case-control study in the Saguenay-Lac-St-Jean region (Quebec, Canada).

Alzheimer's disease is now recognized as a major public health problem. Many hypotheses have tried to explain the etiology of Alzheimer's disease and, among them, genetic factors are considered one of the most plausible. A case-control study of familial factors, including sex distribution, age at onset, birth order, parental age, fertility, mortality, inbreeding and kindship, was conducted on 130 clinically diagnosed patients born in the Saguenay-Lac-St-Jean region (Quebec, Canada). The cases were screened by the IMAGE project. Our results showed that most factors studied are not associated with Alzheimer's disease. Inbreeding was found to be slightly increased in the Alzheimer group. Kindship was higher in the Alzheimer group than in the control groups, therefore confirming that familial predisposition is a very important risk factor.

Adult↗
PubMed1997

Cross-trait familial resemblance for body fat and blood lipids: familial correlations in the Quebec Family Study.

In an attempt to better understand the genetic basis of the metabolic syndrome, we have undertaken a series of studies on the familial aggregation in the clustering of the coronary heart disease risk factors which characterize this syndrome. In the present study, the hypothesis of shared genetic (pleiotropy) and/or environmental factors between body fat and blood lipids is investigated by examining cross-trait (eg, father's body fat with his son's blood lipid) familial resemblance between 4 indicators of body fat (body mass index [BMI], sum of 6 skin folds [SF6]) and fat distribution (the ratio of the trunk to extremity skin folds adjusted [TER-sf] and unadjusted [TER] for SF6), and 5 blood lipid variables (total cholesterol [CH], triglycerides [TG], cholesterol associated with high-density lipoproteins [HDL], the CH/ HDL ratio and the difference between CH and HDL [CH-HDL]) measured in 1239 individuals from 309 families participating in the Quebec Family Study. A bivariate correlation model was used to obtain maximum likelihood estimates of cross-trait spouse, parent-offspring, and sibling correlations after adjustment of body fat and lipid data for the effects of age, separately in the four sex-by-generation groups. Likelihood ratio tests revealed the presence of significant (P < .05) cross-trait resemblance between body fat (BMI and SF6) and all lipid traits except CH and also between fat distribution (TER and TER-sf) and CH/HDL and CH-HDL. Only sibling cross-trait correlations were significant for all body fat-lipid pairs of measures, with bivariate familiality estimates (i.e., shared genetic and/or environmental factors) ranging from 8% to 40%. Although the hypothesis of genetic pleiotropy cannot be ruled out from the pattern of cross-trait correlations found in the present study, we conclude that environmental factors shared within sibships are probably more important than common genes in determining the covariation between body fat and blood lipids.

Adolescent↗
PubMed1991

Changing rates of stroke in the province of Quebec, Canada: 1981-1988.

Using more than 37,000 hospital discharges attributed to hemorrhagic or occlusive stroke in the province of Quebec, Canada, we analyzed trends in stroke incidence during the period 1981-1988. There were large and statistically significant (p less than 0.05) increases in the rates of hemorrhagic stroke over this period. Dramatic increases occurred among men in the rates of both intracerebral (International Classification of Diseases--Ninth Revision [ICD9] code 431) and intracranial (ICD9 code 432) hemorrhagic strokes (40-204% depending on age). In contrast, the rates of occlusion of the precerebral arteries (ICD9 code 433) declined in younger men and women but increased substantially (107%) in older men. Rates of occlusion of the cerebral arteries (ICD9 code 434) declined in men over the age of 50 years and in women aged 50-79 years. Despite the decline in the rate of occlusion of the cerebral arteries, the rate of hemorrhagic stroke appears to have increased. Changes in the hospitalization rates for hemorrhagic stroke were not accompanied by consistent decreases in the case-fatality rate. This finding tends to support the hypothesis of an actual increase in the hospitalization rate fo hemorrhagic stroke rather than an artifactually elevated rate due to enhanced diagnosis by computed tomography.

Adolescent↗
PubMed1997

Airway function among Inuit primary school children in far northern Quebec.

The study of the prevalence and determinants of asthma and allergy in different populations may provide clues to their etiology. We describe airway function and its determinants among Inuit schoolchildren living in far Northern Quebec. We assessed the presence of airways hyperresponsiveness (AHR), defined as a 15% drop in FEV1 with exercise, airflow obstruction, as judged by a reduced FEV1/FVC, and atopy, as evidenced by skin test positivity to inhaled aeroallergens, among 509 Inuit aged mostly from 6 to 13 yr. Smoking by the children (31.9%) and their parents was common, including maternal smoking during pregnancy (79.5%). Atopy was found in only 5.3% of children. Apart from age, there were no significant associations between AHR and any of the determinants examined. Airflow obstruction was present among 7.7% of children and occurred most commonly among children with higher levels of salivary cotinine and in those with four or more lower respiratory illnesses in the first 2 yr of life. Asthma and atopy were uncommon in this population whereas evidence of chronic airflow obstruction was frequently found. Measures to reduce the spread of respiratory infection and prevention of smoking are likely to be of most benefit in improving respiratory health in these isolated communities.

Adolescent↗
PubMed2003

Tuberculosis in the Inuit community of Quebec, Canada.

In low-incidence countries targeting tuberculosis (TB) elimination, TB remains a problem of a few high-risk groups. In Canada, Aboriginals, and particularly the Arctic Inuit communities, have witnessed dramatic decreases in TB during the 1960s to 1970s, but rates remain at least 10 to 20 times higher than the national average. We are describing the results of an integrated traditional and molecular epidemiology study of all culture-positive Mycobacterium tuberculosis cases in the Arctic Inuit communities of Quebec from 1990 until 2000. The demographic characteristics of the 46 TB cases included in the study were most notable for a bimodal age distribution (48% under 25 years). Genotyping analysis using multiple modalities (IS6110 restriction fragment length polymorphism, spoligotype, mycobacterial interspersed repetitive units-variable number tandem repeats) showed that 76% (35/46) of TB cases were clustered (six clusters, median size four cases) and estimated that at least 62.5% of TB cases were due to ongoing transmission. By integrating the epidemiologic and genotyping data, we observed that the genotyping clustering results were concordant with recognized epidemiologic links but most notably identified previously unrecognized intervillage transmission. This study demonstrates significant ongoing transmission in a geographically isolated, low-density population. In a resource-rich country such as Canada, these communities illustrate some of the persistent challenges of TB control and elimination.

Adolescent↗
PubMed1999

Practices of recycling assistive technology in Quebec.

The aim of this study was to document professional factors to be considered in implementing a provincial policy of recycling assistive technology in Quebec. A qualitative study was conducted with 22 experts from various sectors: health professionals (including occupational therapists), industry and community. They were interviewed using a semi-structured questionnaire. Data collection also involved observing recycling practices and analyzing working documents. Implementation strategies were considered from the perspectives of health professionals, the commercial sector, users of assistive technology and government administrators. Factors that contribute to tension between occupational therapists and other players are discussed. It is recommended that occupational therapists take a united position on this issue such that their voices may have more weight in intersectoral collaborations.

Data Collection↗