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Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by bi-allelic pathogenic variants in the microsomal triglyceride transfer protein (MTTP) gene. This disease is characterized by a deficiency in the secretion of apolipoprotein B-containing lipoproteins. Patients with ABL present with neurological, hematological, and gastrointestinal symptoms due to fat malabsorption and a deficiency in liposoluble vitamins. In this report, we present a total of four ABL cases, including three new cases, all originating from the same French-Canadian founder population in Saguenay-Lac-Saint-Jean, Québec, Canada. These individuals are homozygous for the same pathogenic variant in the MTTP gene (c.419dup, p.Asn140Lysfs*2). We found that this variant is more common than anticipated in this population, with an estimated carrier frequency of 1:203. Early diagnosis is essential to initiate treatment known to prevent complications associated with ABL. Population carrier screening or newborn screening for ABL should be considered in this French-Canadian founder population., Competing Interests: Declaration of competing interest AB received research grants from Akcea, Amgen, Astra Zeneca, Fondation Leducq, Fondation Yvan Morin, Merck Frosst, and Sanofi. He has participated in clinical research protocols from Acasti Pharma Inc., Akcea, Amgen, Arrowhead Pharmaceuticals, Astra Zeneca, Ionis Pharmaceuticals, Inc., ISIS Pharmaceuticals, The Medicines Company, Merck Frosst, Novartis, Pfizer, Regeneron Pharmaceuticals Inc., and Sanofi. He has served on advisory boards and received honoraria for symposia from Akcea, Amgen, and Sanofi. SPG, MP, LG, GG, VD, VP, and LB have no conflict of interest to declare., (Copyright © 2024. Published by Elsevier Inc.)

The population of the Saguenay-Lac-Saint-Jean (SLSJ) region, located in the province of Quebec, Canada, is recognized as a founder population, where some rare autosomal recessive diseases show a high prevalence. Through the clinical and molecular study of 82 affected individuals from 60 families, this study outlines 12 diseases identified as recurrent in SLSJ. Their carrier frequency was estimated with the contribution of 1059 healthy individuals, increasing the number of autosomal recessive diseases with known carrier frequency in this region from 14 to 25. We review the main clinical and molecular features previously reported for these disorders. Five of the studied diseases have a potential lethal effect and three are associated with intellectual deficiency. Therefore, we believe that the provincial program for carrier screening should be extended to include these eight disorders. The high-carrier frequency, together with the absence of consanguinity in most of these unrelated families, suggest a founder effect and genetic drift for the 12 recurrent variants. We recommend further studies to validate this hypothesis, as well as to extend the present study to other regions in the province of Quebec, since some of these disorders could also be present in other French-Canadian families., (© 2023 Wiley Periodicals LLC.)

The Saguenay-Lac-Saint-Jean (SLSJ) region located in the province of Quebec was settled in the 19th century by pioneers issued from successive migration waves starting in France in the 17th century and continuing within Quebec until the beginning of the 20th century. The genetic structure of the SLSJ population is considered to be the product of a triple founder effect and is characterised by a higher prevalence of some rare genetic diseases. Several studies were performed to elucidate the historical, demographic and genetic background of current SLSJ inhabitants to assess the origins of these rare disorders and their distribution in the population. Thanks to the development of new sequencing technologies, the genes and the variants responsible for the most prevalent conditions were identified. Combined with other resources such as the BALSAC population database, identifying the causal genes and the pathogenic variants allowed to assess the impacts of some of these founder mutations on the population health and to design precision medicine public health strategies based on carrier testing. Furthermore, it stimulated the establishment of many public programmes.We report here a review and an update of a subset of inherited disorders and founder mutations in the SLSJ region. Data were collected from published scientific sources. This work expands the knowledge about the current frequencies of these rare disorders, the frequencies of other rare genetic diseases in this population, the relevance of the carrier tests offered to the population, as well as the current available treatments and research about future therapeutic avenues for these inherited disorders., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

The study aimed at documenting motivational orientations for the regulation of eating as defined by self-determination theory and their association with sociodemographic characteristics and overall diet quality. As part of the PREDISE study, French-speaking women (n = 550) and men (n = 547), aged 18-65 years, living in the Province of Québec, Canada, completed online validated questionnaires. The Regulation of Eating Behavior Scale, based on the self-determination theory, assessed self-determined and non-self-determined motivation to regulate one's eating behavior. Three web-based 24-h food recalls were completed and used to compute the Canadian Healthy Eating Index 2007 (C-HEI), an indicator of the overall adherence to Canadian guidelines for healthy eating. Multiple linear regressions were performed to assess how regulation styles are associated with the C-HEI. Model 1 included no covariate, model 2 included sociodemographic covariates, and fully adjusted model 3 included as covariates sociodemographic variables as well as variables that were previously associated with diet quality, namely nutrition knowledge and social support for healthy eating. Women (p < 0.0001), older individuals (p = 0.0002), those with a higher education level (p < 0.0001), and non-smokers (p < 0.0001) reported higher self-determined motivation score than their counterparts. Self-determined motivation was positively (model 1: B = 4.67, p < 0.0001; model 2: B = 3.82, p < 0.0001; model 3: B = 3.61, p < 0.0001) and non-self-determined motivation was negatively (model 1: B = -1.62, p = 0.0009; model 2: B = -1.63, p = 0.0006; model 2: B = -1.49, p = 0.0022) associated with C-HEI. The present study suggests that some subgroups of the general adult population show more self-determined motivation for eating, which is associated with a better diet quality independently of individual characteristics and other individual and social determinants of healthy eating. Strategies to help individuals internalize the regulation of eating should be further investigated., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Purpose: To assess whether angioplasty of hemodialysis access (HA) stenosis with a drug-coated balloon (DCB) would prevent restenosis in comparison with plain-balloon percutaneous transluminal angioplasty (PTA)., Materials and Methods: This prospective randomized clinical trial enrolled 120 patients with dysfunctional arteriovenous fistulae (n = 109) and grafts (n = 11), due to a ≥50% stenosis between March 2014 and April 2018. All patients underwent high-pressure balloon angioplasty and were then randomized to either DCB (n = 60) or PTA (n = 60). Patients were followed-up for 1 year, and angiography was performed 6 months after angioplasty. The primary endpoint was the late lumen loss (LLL) at 6 months. Secondary endpoints included other angiographic parameters at 6 months and HA failures, adverse event, and mortality at 12 months. Continuous variables were compared with a Student t-test, and Kaplan-Meier curves were used for freedom from HA failure and for mortality., Results: LLL in the DCB and in the PTA group were 0.64 mm ± 1.20 and 1.13 mm ± 1.51, respectively (P = .082, adjusted P = .0498). DCB was associated with lower percentage stenosis (54.2% ± 19.3 vs 61.7% ± 18.2; P = .047) and binary restenosis ≥50% (56.5% vs 81.1%; P = .009) than PTA. The number of HA failures after 12 months was lower for DCB than for PTA (45% vs 66.7%; P = .017). Mortality at 12 months was 10% and 8.3% in the DCB and PTA groups, respectively (P = .75)., Conclusions: Despite LLL improvement that failed to reach statistical significance, this study demonstrated decreased incidence and severity of restenosis with DCB compared with PTA to treat dysfunctional HA., (Copyright © 2020 SIR. Published by Elsevier Inc. All rights reserved.)

Purpose: To assess how nutrition knowledge is associated with global diet quality and to investigate whether sociodemographic characteristics (ie, sex, age, education, income, marital status, and living with children or not) moderate this association., Design: Cross-sectional web-based study., Participants: The PREDISE study aims at identifying correlates of adherence to healthy eating guidelines in French-speaking adults from the Province of Quebec, Canada., Subjects: A probability sample of 1092 participants (50% female)., Measures: The Nutrition Knowledge Questionnaire and 24-hour food recalls from which the Canadian Healthy Eating Index (C-HEI) was calculated., Analysis: Multiple linear regressions performed to assess how nutrition knowledge is associated with the C-HEI. Interaction terms tested to evaluate whether sociodemographic characteristics moderate the association between nutrition knowledge and the C-HEI., Results: Nutrition knowledge (B = 0.141 [95% CI: 0.075-0.208], P < .0001) was identified as a significant correlate of the C-HEI. Education significantly moderated the association between nutrition knowledge and the C-HEI ( P interaction = .0038), with a significative association among participants with a lower education level (B = 0.295 [95% CI: 0.170-0.421], P < .0001) but not among participants with a higher education level (B = 0.077 [95% CI: -0.004 to 0.157], P = .06). Whether participants lived with or without children also significantly moderated the association ( P interaction = 0.0043); nutrition knowledge was associated with the C-HEI only in participants who were not living with children (B = 0.261 [95% CI: 0.167 to 0.355], P < .0001)., Conclusion: This study suggests that the association between nutrition knowledge and adherence to healthy eating guidelines is not the same in different subgroups of the population. Interventions aiming at increasing nutrition knowledge may be a promising approach to improve diet quality, especially among individuals with a lower education.

Purpose: This study evaluated the safety and efficacy of the JETi8 peripheral thrombectomy system in treating acute deep vein thrombosis (DVT)., Materials and Methods: A retrospective study was conducted in 18 consecutive patients (mean age, 41 years old [range, 15-74 years old]; 5 men and 13 women). There were 21 instances of DVTs (9 iliofemoral, 10 axillosubclavian, and 2 portal), which were treated using the JETi8 thrombectomy device between November 2016 and July 2018. Thrombus was laced with recombinant tissue plasminogen activator (r-TPA) (9.3 mg, on average; range, 2-12 mg) in 17 procedures (81%) prior to thrombectomy. Technical success was defined as restoration of antegrade flow using the JETi8 with or without additional treatment of an underlying obstructive lesion. Procedural success was defined as technical success with or without the addition of overnight catheter-directed thrombolysis (CDT) RESULTS: Mean procedure time was 83 minutes (range, 30-160 minutes), and mean thrombus reduction with the JETi8 alone was 92% (range, 60%-100%). Stent placement was required in 6 procedures (29%). Technical success using the JETi8 system alone was 76% (16 of 21 procedures), whereas 5 procedures (24%) required subsequent overnight CDT in the intensive care unit. Procedural success rate was 100% (20 of 20 procedures). Mean aspirated volume was 531 mL (range, 250-1,230 mL). The only adverse event was a subsegmental pulmonary embolism. Seven patients (33%) were discharged the same day. Recurrent thrombosis was observed in 5 patients (24%), of whom 3 were successfully treated with the JETi8 system., Conclusions: The JETi8 system may be a safe and effective option for thrombectomy of acute DVT., (Copyright © 2019 SIR. Published by Elsevier Inc. All rights reserved.)

The objectives were to assess whether social support for healthy eating and perceived food environment are associated with diet quality, and to investigate if sociodemographic characteristics moderate these associations. A probability sample of French-speaking adults from the Province of Québec, Canada, was recruited in the context of the PREDISE study. Participants reported their perceptions of supportive and non-supportive actions related to healthy eating from close others at home and outside of home ( n = 952), and of the accessibility to healthy foods ( n = 1035). The Canadian Healthy Eating Index (C-HEI) was calculated based on three Web-based 24 h food recalls. Multiple linear regression models showed that supportive (B = 1.50 (95% CI 0.46, 2.54)) and non-supportive (B = -3.06 (95% CI -4.94, -1.18)) actions related to healthy eating from close others at home were positively and negatively associated with C-HEI, respectively, whereas actions from close others outside of home were not. The negative association between non-supportive actions occurring at home and C-HEI was stronger among participants with lower (vs. higher) levels of education ( p interaction = 0.03). Perceived accessibility to healthy foods was not associated with C-HEI ( p > 0.05). These results suggest that the social environment may have a stronger influence on healthy eating than the perceived physical environment. This adds support for healthy eating promotion programs involving entire families, especially for more socioeconomically disadvantaged individuals, whose efforts to eat healthily may be more easily thwarted by non-supportive households.

Background and Aims: The "Life's Simple 7" (LS7) metrics were developed by the American Heart Association (AHA) to assess and promote cardiovascular health in the American population. The purpose of this study was to assess the overall cardiovascular health of French-speaking adults from the Province of Quebec using the LS7 score., Methods and Results: A total of 777 age and sex-representative participants of five different administrative regions in the Province of Quebec (387 men and 390 women; mean age ± SEM: 41.9 ± 0.1 years) were included in these analyses. Metrics of the LS7 score (smoking, physical activity, diet, body mass index, blood pressure, fasting total cholesterol and blood glucose) were analysed to generate a final score ranging from 0 to 7. Only 0.5% of participants met all criteria for ideal cardiovascular health. The diet metric showed the lowest prevalence of "ideal" scores (4.8%) whereas not smoking was the metric with the highest prevalence (88.1%). Women had a higher LS7 score than men, while age and education level (negative and positive association, respectively; p < 0.0001) were also associated with the LS7 score., Conclusion: Consistent with studies conducted among other populations, very few French-speaking adults from the Province of Quebec achieve an ideal cardiovascular health. These data indicate that further public health efforts aimed at promoting the LS7 metrics, focusing primarily on diet, are urgently needed. Specific groups, including older adults and those with lower levels of education, should be targeted when developing cardiovascular health promotion interventions., (Copyright © 2019 The Italian Society of Diabetology, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition, and the Department of Clinical Medicine and Surgery, Federico II University. Published by Elsevier B.V. All rights reserved.)

Background: Regular monitoring of the population's food and nutrient intake is essential to develop effective nutrition-focused public health policies. The aim of this study was to provide dietary intake estimates using an age- and sex-representative sample of French-speaking adults with Internet access from 5 administrative regions in the province of Quebec, Canada., Methods: PRÉDicteurs Individuels, Sociaux et Environnementaux (PREDISE) is a multicentre cross-sectional study that used a Web-based approach to collect individual, social, and environmental data on factors associated with adherence to dietary recommendations. Dietary intake was estimated from the average of 3 validated Web-based 24-hour recalls., Results: Mean (± SD) age of the 1147 participants (50.2% women) was 43.2 ± 4.6 years and median body mass index was 26.3 (interquartile range, 23.3-30.3). Less than 25% of participants met Canada's Food Guide recommendations for vegetables and fruit intake (prevalence, 23.6%; 95% confidence interval [CI], 21.1-26.0). Most participants reported consuming more than 2300 mg of sodium (prevalence, 80.5%; 95% CI, 78.2-82.7) and more than 10% energy as saturated fats (prevalence, 74.2%; 95% CI, 71.6-76.7). Mean Canadian Healthy Eating Index score on a scale of 0-100 was 54.5 (95% CI, 53.8-55.2), reflecting relatively poor diet quality according to current dietary recommendations., Conclusions: Self-reported dietary intakes measured using a new validated Web-based 24-hour recall in this sample of French-speaking adults from Quebec and with access to Internet suggest low adherence to current Canadian dietary guidelines. These data emphasize the need for more effective nutrition-focused public health policies to maximize cardiovascular disease prevention at the population level., (Copyright © 2018 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Prenatal exposure to maternal cigarette smoking (prenatal smoke exposure) had been associated with altered DNA methylation (DNAm) at birth., Objective: We examined whether such alterations are present from birth through adolescence., Methods: We used the Infinium HumanMethylation450K BeadChip to search across 473,395 CpGs for differential DNAm associated with prenatal smoke exposure during adolescence in a discovery cohort (n = 132) and at birth, during childhood, and during adolescence in a replication cohort (n = 447)., Results: In the discovery cohort, we found five CpGs in MYO1G (top-ranking CpG: cg12803068, p = 3.3 × 10-11) and CNTNAP2 (cg25949550, p = 4.0 × 10-9) to be differentially methylated between exposed and nonexposed individuals during adolescence. The CpGs in MYO1G and CNTNAP2 were associated, respectively, with higher and lower DNAm in exposed versus nonexposed adolescents. The same CpGs were differentially methylated at birth, during childhood, and during adolescence in the replication cohort. In both cohorts and at all developmental time points, the differential DNAm was in the same direction and of a similar magnitude, and was not altered appreciably by adjustment for current smoking by the participants or their parents. In addition, four of the five EWAS (epigenome-wide association study)-significant CpGs in the adolescent discovery cohort were also among the top sites of differential methylation in a previous birth cohort, and differential methylation of CpGs in CYP1A1, AHRR, and GFI1 observed in that study was also evident in our discovery cohort., Conclusions: Our findings suggest that modifications of DNAm associated with prenatal maternal smoking may persist in exposed offspring for many years-at least until adolescence.

Background: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved., Methods: We identified 5 ZS patients from SLSJ diagnosed by peroxisome dysfunction between 1990-2010 and sequenced all coding exons of known PEX genes in one patient using Next Generation Sequencing (NGS) for diagnostic confirmation., Results: A homozygous mutation (c.802&#95;815del, p.[Val207&#95;Gln294del, Val76&#95;Gln294del]) in PEX6 was identified and then shown in 4 other patients. Parental heterozygosity was confirmed in all. Incidence of ZS was estimated to 1 in 12,191 live births, with a carrier frequency of 1 in 55. In addition, we present data suggesting that this mutation abolishes a SF2/ASF splice enhancer binding site, resulting in the use of two alternative cryptic donor splice sites and predicted to encode an internally deleted in-frame protein., Conclusion: We report increased incidence of ZS in French-Canadians of SLSJ caused by a PEX6 founder mutation. To our knowledge, this is the highest reported incidence of ZS worldwide. These findings have implications for carrier screening and support the utility of NGS for molecular confirmation of peroxisomal disorders.

Obesity is a major health problem that can be influenced by eating behaviors. Evidence suggests that the sensory properties of food influence eating behaviors and lead to overeating and overweight. A previous genome-wide linkage scan for eating behavior traits assessed with the Three-Factor Eating Questionnaire (cognitive dietary restraint, disinhibition and hunger) performed in the Quebec Family Study (QFS) revealed a quantitative trait locus for disinhibition on chromosome 19p13. This region encodes a cluster of seven olfactory receptor (OR) genes, including OR7D4, previously associated with odor perceptions. Direct sequencing of the OR7D4 gene revealed 16 sequence variants. Nine OR7D4 sequence variants with minor allele frequency (MAF)>1% as well as 100 SNPs spanning the cluster of OR genes on 19p13 were tested for association with age- and sex-adjusted eating behaviors as well as adiposity traits in 890 subjects. One OR7D4 sequence variant (rs2878329 G>A) showed evidence of association with reduced levels of adiposity (p=0.03), cognitive dietary restraint (p=0.05) and susceptibility to hunger (p=0.008). None of the OR7D4 SNPs was associated with disinhibition, but a SNP (rs2240927) in another OR gene (OR7E24) showed evidence of association (p=0.03). Another SNP in the OR7G3 gene (rs10414255) was also found to be associated with adiposity and eating behaviors. These results are the first to suggest that variations in human olfactory receptor genes can influence eating behaviors and adiposity. The associations reported in the present study should be interpreted with caution considering the number of tests performed and considered as potential new hypotheses about the effects OR polymorphisms on eating behaviors and obesity that need to be further explored in other populations., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Purpose: To evaluate the efficacy and safety of percutaneous renal artery embolization (RAE) of iatrogenic vascular kidney injuries and the effects of RAE on renal function and arterial blood pressure (BP)., Materials and Methods: Over a 12-year period, 50 consecutive patients with severe hemorrhage after iatrogenic arterial kidney injuries underwent RAE. Technical success was defined as occlusion of the bleeding site, and clinical success was defined as complete bleeding cessation. The effects on renal function and arterial BP were assessed by comparing the estimated glomerular filtration rate (eGFR), renal function stage (National Kidney Foundation scale), systolic BP, and BP stage (European Society of Hypertension classification) before and after RAE., Results: RAE was technically successful in 49 patients (98%). Two patients were lost to follow-up after RAE. Clinical success was obtained in 40 (83%), 45 (94%), and 47 patients (98%), respectively, at 24, 48, and 96 hours after RAE. Three patients (6%) had minor complications, and one patient (2%) died within 30 days after RAE. Follow-up renal function data (mean, 4 mo) were available for 33 patients (66%). No statistically significant differences in eGFR (P = .186) or renal function stage (P = .183) were apparent after RAE. Follow-up BP data (mean, 3 mo) were available for 28 patients (56%). There were no significant differences in systolic BP (P = .233) or BP stage (P = .745) after RAE., Conclusions: Embolization of iatrogenic renal artery injuries is safe and associated with high technical and clinical success rates. It is not associated with a significant worsening of renal function or increase in BP., (Copyright © 2011 SIR. Published by Elsevier Inc. All rights reserved.)

The purpose of this phenomenological study was to describe the experience of sexuality of middle-aged Quebec women living with cervical cancer. Ten women accepted to take part in the study. The findings reveal a new outlook on sexuality, as these women refocus their positions on their lives, their conjugal relationships and the adverse effects of therapies. The participants expressed the will to combine feelings of love with sexual pleasures. They all felt the need to talk about the embarrassing and traumatizing effects of treatment on their sexuality. These findings raise the need for nurses to recognize these women's sexual concerns and to further research in this area.

Existing literature indicates peer support is beneficial for people with mental illnesses and plays an important role in recovery. While many studies in the mental health field have focused on formalized peer support within the community, none have explored the experience of peer support among hospitalized patients. The purpose of the current study was to explore the perceptions and experiences of naturally occurring peer support among adult mental health inpatients. In-depth interviews were conducted with ten inpatients across four mental health units, two acute and two long-term. Interviews were transcribed verbatim and analyzed using a qualitative descriptive design. The data show that peer support among inpatients is extensive and beneficial, and occurs independently of staff involvement. The findings illustrate that peer support is a thoughtful process that involves observing, reflecting, taking action, and evaluating outcomes. Supportive actions include helping with activities of daily living, sharing material goods, providing information and advice, sharing a social life, and offering emotional support. This leads to various positive outcomes for providers and recipients of peer support, such as improved mental health outcomes and quality of life. Attempts to provide supportive interactions occur within a particular context, which can hinder or facilitate peer support. The new insights from this study could provide health professionals with an increased recognition of peer support and an appreciation for the unique role patients play in their own and in their peers' recovery. These findings have important implications for establishing collaborative working partnerships with mental health inpatients.

The objective of this study was to describe the experience of caring for individuals at the end of life by five nurses working in curative care units. Semi-structured interviews were conducted to gain a better understanding of the meaning nurses give to this experience. The analysis of results, based on Giorgi's phenomenological method (1997), highlighted a central meaning: it is a human experience fraught with paradoxes where the bedside nurse feels both privileged to be accompanying these individuals at the end of their lives and torn between the medical priority given to curative care and the lesser priority given to palliative care. This study offers relevant options for nurse managers wanting to improve these nurses' work environment and the quality of care for individuals at the end of life.

Objective: In the present study, we undertook a two-step fine mapping of a 20-megabase region around a quantitative trait locus previously reported on chromosome 15q26 for abdominal subcutaneous fat (ASF) in an extended sample of 707 subjects from 202 families from the Quebec Family Study., Research Methods and Procedure: First, 19 microsatellites (in addition to the 7 markers initially available on 15q24-q26; total = 26) were genotyped and tested for linkage with abdominal total fat, abdominal visceral fat, and ASF assessed by computed tomography and with fat mass (FM) using variance component-based approach on age- and sex-adjusted phenotypes. Second, 16 single nucleotide polymorphisms (SNPs) were genotyped and tested for association using family-based association tests., Results: After the fine mapping, the peak logarithm of odds ratio (LOD) score (marker D15S1004) increased from 2.79 to 3.26 for ASF and from 3.52 to 4.48 for FM, whereas for abdominal total fat, the peak linkage (marker D15S996) decreased from 2.22 to 1.53. No evidence of linkage was found for abdominal visceral fat. Overall, for genotyped SNPs, three variants located in the putative MCTP2 gene were significantly associated with FM and the three abdominal fat phenotypes (p

Background: Several candidate genes have been associated with obesity, but very few studies have tested more than one gene simultaneously., Methods: In this study, 15 polymorphisms in 10 candidate genes of obesity were tested for association with changes in adiposity measured over a period of 6-10 years in a maximum of 332 adult subjects with a wide range of adiposity (17.5or=40 years)., Results: In the whole sample, the variance in age-related adiposity changes explained by the candidate gene polymorphisms ranged from 3.1% (BMI, P<0.05) to 8.5% (fat mass (FM), P

Cardiovascular (CVD) risk factors are under the influence of environmental and genetic factors. Human upstream transcription factor 1 gene (USF1) encodes for a transcription factor, which modulates the expression of genes involved in lipid and carbohydrate metabolic pathways. The aim of this study was to test the hypothesis that USF1 gene variants are associated with CVD risk factors in the Quebec Family Study (QFS). USF1 has been sequenced in 20 QFS subjects with high plasma apolipoprotein B100 (APOB) levels (>1.14 g/l) and small, dense low-density lipoprotein (LDL) particles (> or =250.7 Angstroms and < or =255.9 Angstroms), as well as in five subjects with larger LDL particles. Ten variants were identified in non-coding regions of USF1. Two of these polymorphisms (intron 7 c.561-100 G>A, and exon 11 c.*187 C>T) as well as the c.-56 A>G polymorphism, were genotyped and analyzed in 760 subjects from QFS. Association studies showed that women with c.561-100 A/A and c.*187 T/T genotypes had more favorable adiposity indices (<0.04). In summary, significant associations between relatively common USF1 genetic variants and CVD risk factors were observed in French Canadians.

Background: Prostate cancer challenges not only the men with the disease, but also their partners. Existing studies have focused on the relationship between type of treatment and sexual and urinary function in men, with recent qualitative work suggesting that men and their spouses have differing responses to the illness. Factors predicting women's adaptation to prostate cancer have not been examined., Objectives: Using a model derived from family stress and adaptation theory, this study examined (1) the contribution of urinary and sexual symptoms, sense of coherence, marital resources and situational appraisal to wives' global adaptation (PAIS) and emotional adaptation (POMS), and (2) the role of situational appraisal as a mediator between the set of independent variables and PAIS and POMS., Design: In a prospective, correlational design, data were collected from 70 women following their partners' diagnosis and again 3 months later., Methods and Results: Using a path analysis approach, between 30% and 62.7% of the variance in global adjustment and mood disturbance was explained across model tests. Sense of coherence was a strong and consistent predictor. Appraisal acted as a mediator only at time 2, mediating the effect of symptom distress on global adaptation. Change in sense of coherence and change in family resources predicted global adaptation and emotional adaptation at time 2, and predicted the change between time 1 and 2 in those variables., Conclusions: The findings suggest nursing interventions that mobilize and build wives' sense of the manageability, meaningfulness and comprehensibility of life events, and that foster cohesion and flexibility within the marital relationship. Interventions that mitigate the impact of urinary symptoms and the appraisal of threat in the illness event are also indicated. Additional model-testing studies based on family adaptation theory with patients and family members in other types of cancer would help build nursing knowledge for interventions in cancer.

Objective: To explore a quantitative trait locus (QTL) on human chromosome 1q affecting BMI, adiposity, and fat-free mass phenotypes in the Quebec Family Study cohort., Research Methods and Procedures: Non-parametric sibpair and variance component linkage analyses and family-based association studies were performed with a dense set of chromosome 1q43 microsatellites and single-nucleotide polymorphism markers in 885 adult individuals., Results: Linkage was observed between marker D1S184 and BMI (p = 0.0004) and with body fat mass or percentage body fat (p < or = 0.0003), but no linkage was detected with fat-free mass. Furthermore, significant linkages (p < 0.0001) were achieved with subsamples of sibpairs at both ends of phenotype distributions. Association studies with quantitative transmission disequilibrium tests refined the linkage to a region overlapping the regulator of G-protein signaling 7 (RGS7) gene and extending to immediate upstream gene loci., Discussion: The present study indicates that the QTL on chromosome 1q43 specifically affects total adiposity and provides a genetic mapping framework for the dissection of this adiposity locus.

Background: The phospholipid transfer protein (PLTP) may play a role in body fat regulation., Objective: To investigate the association between PLTP genetic variants and obesity-related phenotypes., Methods: Two intronic variants, one in intron 1 (c.-87G>A) and the other in intron 12 (c.1175+68T>G), were genotyped in 811 participants of the Québec Family Study. Nine obesity-related phenotypes were investigated, including body mass index (BMI), obesity (BMI> or =30 kg/m(2)), and waist circumference, percentage of fat, fat mass and fat-free mass measured by hydrostatic weighing as well as total, visceral and subcutaneous abdominal adipose tissue areas assessed by computed tomography. Single markers and haplotypes were tested for associations in family-based designs using the FBAT program., Results: The SNP located in intron 1 showed significant associations with obesity, BMI, waist circumference and fat-free mass (P<0.05). The low-frequency allele (A allele) was associated with higher trait values, suggesting that the transmission of this allele is associated with an increased risk of being obese. Significant associations were observed between haplotypes and obesity, waist circumference, percentage of fat and fat-free mass (P<0.05). The transmission of the AT haplotype (frequency=0.180) was positively associated with obesity-related phenotypes. After sequencing the promoter and the coding regions of the PLTP gene, we were unable to identify a mutation that could replicate these results., Conclusion: Intronic variants of the PLTP gene are significantly associated with obesity-related phenotypes. Considering the number and the relevance of candidate genes surrounding the PLTP locus and the absence of missense polymorphisms in the coding region, the associations could be mediated by a second gene allele in linkage disequilibrium with the marker locus.

Objective: It is commonly recognized that genetic, environmental, behavioral, and social factors are involved in the development of obesity. The family environment may play a key role in shaping children's eating behaviors. The purpose of this study was to estimate the degree of familial resemblance in eating behavioral traits (cognitive dietary restraint, disinhibition, and susceptibility to hunger)., Research Methods and Procedures: Eating behavioral traits were assessed with the Three-Factor Eating Questionnaire in 282 men and 402 women (202 families) from the Quebec Family Study. Familial resemblance for each trait (adjusted for age, sex, and BMI) was investigated using a familial correlation model., Results: The pattern of familial correlation showed significant spouse correlation for the three eating behavior phenotypes, as well as significant parent-offspring and sibling correlations for disinhibition and susceptibility to hunger. According to the most parsimonious model, generalized heritability estimates (including genetic and shared familial environmental effects) reached 6%, 18%, and 28% for cognitive dietary restraint, disinhibition, and susceptibility to hunger, respectively., Discussion: These results suggest that there is a significant familial component to eating behavioral traits but that the additive genetic component appears to be small, with generalized heritability estimates ranging from 6% to 28%. Thus, non-familial environmental factors and gene-gene and gene-environmental interactions seem to be the major determinants of the eating/behavioral traits.

Objective: Obesity is associated with increased plasma levels of plasminogen-activator inhibitor-1 (PAI1), the major fibrinolysis inhibitor. PAI1 levels are also increased at menopause, a condition that is associated with fat mass gain, especially in the abdominal area., Design: We hypothesized that genetic variations within PAI1 gene are related to the amount of body fat and its regional distribution. We genotyped 666 subjects of the Quebec Family Study for five PAI1 gene polymorphisms. Stratified analyses were performed with analysis of covariance in men (n = 280) and women (n = 386) separately., Results: PAI1-675 4G/5G polymorphism was strongly associated with body mass index (P < or = 0.01) and fat mass (P < or = 0.05) in women. The PAI1-675 4G/5G promoter polymorphism and the c.43G

Background: Obesity is frequently associated with eating disorders, and evidence indicates that both conditions are influenced by genetic factors. However, little is known about the genes influencing eating behaviors., Objective: The objective was to identify genes associated with eating behaviors., Design: Three eating behaviors were assessed in 660 adults from the Quebec Family Study with the use of the Three-Factor Eating Questionnaire. A genome-wide scan was conducted with a total of 471 genetic markers spanning the 22 autosomes to identify quantitative trait loci for eating behaviors. Body composition and macronutrient and energy intakes were also measured., Results: Four quantitative trait loci were identified for disinhibition and susceptibility to hunger. Of these, the best evidence of linkage was found between a locus on chromosome 15q24-q25 and disinhibition (P <0.0058) and susceptibility to hunger (P <0.0001). After fine-mapping, the peak linkage was found between markers D15S206 and D15S201 surrounding the neuromedin beta (NMB) gene. A missense mutation (p.P73T) located within the NMB gene showed significant associations with eating behaviors and obesity phenotypes. The T73T homozygotes were 2 times as likely to exhibit high levels of disinhibition (odds ratio: 1.8; 95% CI: 1.07, 2.89; P=0.03) and susceptibility to hunger (odds ratio: 1.9; 95% CI: 1.15, 3.06; P=0.01) as were the P73 allele carriers. Six-year follow-up data showed that the amount of body fat gain over time in T73T subjects was >2 times that than in P73P homozygotes (3.6 compared with 1.5 kg; P <0.05)., Conclusion: The results suggest that NMB is a very strong candidate gene of eating behaviors and predisposition to obesity.

The purpose of this descriptive study was to assess the impact of limited resources on the practice of dialysis in Quebec and to highlight certain ethical issues. Twelve semi-structured interviews were done with nurses in charge of 14 dialysis centres in Quebec. A survey using self-administered questionnaires was also carried out between January 2000 and July 2001, with a convenience sample of 412 patients and 156 other persons involved, including 116 dialysis nurses. Two discussion groups brought together sixteen stakeholders from four dialysis centres. The results presented here were obtained by triangulating methods and data. They show that access to dialysis is not limited by Quebec nephrologists, that patients are increasingly old and sick, that teams are working to the utmost of their ability and that it is difficult for nursing staff to provide optimal care under these conditions.

This article discusses the results of a study of the stand and attitudes of physicians from the Picardie, Nord-Pas-de-Calais region in France and the province of Quebec (Canada) regarding abortion following the diagnosis of a fetal anomaly by ultrasound, amniocentesis, or chorionic villus sampling. The study examined the degree of acceptability of abortion for several specific conditions as well as the physicians' perceptions of their role in the women's decision to abort. The study shows a consensus (over 75 per cent of the physicians surveyed) for aborting a fetus with trisomy 21. There is a similar consensus, except among Francophones in Quebec, for muscular dystrophy, cystic fibrosis, and Huntington disease. Conversely, there is no consensus (below 60 per cent) for several anomalies. In these cases, Quebec Anglophone physicians find abortion more acceptable than Quebec Francophone or French physicians. Concerning the role of the practitioners in the decision to abort, physicians in France tend to be much more directive than their overseas colleagues. Several hypotheses are suggested to explain the difference between the three groups surveyed.

If the influence of age or disease on the length of stay is evident, this is not the case for the impact of the distance between the site of hospitalization and the residence of the patient. In addressing this issue, the study analyzes the length of stay of four groups of patients: patients aged 45-64 with cardiovascular problems; patients aged 45-64 with rheumatismal problems; patients aged 65 and over with cardiovascular problems; and patients aged 65 and over with rheumatismal problems. Hospitalization sites are grouped under four categories: (i) within the "Departement de Santé Communitaire" (DSC) of patients' residence; (ii) outside the DSC of patients' residence but within their "région socio-sanitaire"; (iii) outside the DSC of patients' residence and outside their "région socio-sanitaire"; and (iv) outside the DSC of patients' residence but within Greater Montreal or Greater Quebec. The Student test is used.