Biomedical subjects
C Bouchard
Publications and source records attributed to C Bouchard.
Paronychia and pyogenic granuloma of the great toes in patients treated with indinavir.
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The human obesity gene map: the 1997 update.
An update of the human obesity gene map incorporating published results up to October 1997 is presented. Evidence from Mendelian disorders exhibiting obesity as a clinical feature; single-gene mutation rodent models; quantitative trait loci uncovered in human genome-wide scans and in crossbreeding experiments with mouse, rat, and pig models; association and case-control studies with candidate genes; and linkage studies with genes and other markers is reviewed. All chromosomal locations of the animal loci are converted into human genome locations based on syntenic relationships between the genomes. A complete listing of all of these loci reveals that all but chromosome Y of the 24 human chromosomes are represented. Some chromosomes show at least three putative loci related to obesity on both arms (1, 2, 6, 8, 11, and 20) and several on one chromosome arm only (3p, 4q, 5q, 7q, 12q, 13q, 15q, 15p, 22q, and Xq). Studies reporting negative association and linkage results are also listed, with the exception of the unlinked markers from genome-wide scans.
Control of cell proliferation by Myc proteins.
Taken together, the available data appear to be consistent with a model in which Myc proteins function downstream of D-type cyclins and synergize with E2F proteins in the activation of the cyclin E/cdk2 kinase. This view of Myc proteins appears strikingly similar to established models for the E2F/DP family of proteins. However, it should be noted that there are clear differences and several predictions of such a model that have been critically tested for E2F proteins are still untested for Myc in this model. First, it appears that at least some target genes of Myc implicated in this process are still unknown; second, clear data from knockout cells that link p107 to Myc function are missing; and third, we are not aware of studies of tumour samples that clarify whether mutations in myc genes relieve the requirement for mutations in the cyclin D/p16 pathway.
Etiology of massive obesity: role of genetic factors.
It is well established that there is a significant familial aggregation of obesity, although most of the evidence regarding the genetic basis of obesity has been derived from overweight and moderately obese cases. Less is known about the contribution of genetic factors in severely obese individuals. This paper reviews the available evidence regarding the extent of familial aggregation of morbid obesity and the contribution of specific genes. The results of available studies suggest a stronger degree of familial resemblance for morbid obesity [body mass index (BMI > 40 kg/m2)] than for more moderate levels of obesity (BMI < 40 kg/m2). Evidence from human association and linkage studies, performed with markers surrounding human homologs of the genes involved in mouse models of obesity, revealed that these genes tend to be linked more often to severe obesity than to moderate levels of obesity.
[Efficacy of a treatment program for sexually abused children].
OBJECTIVE: An evaluation study was conducted in order to evaluate the impact of the treatment program for sexually abused children. METHOD: Forty-one (41) children (aged 6-17 years), victims of a sexual abuse by a family member, were assessed at pre- and post-treatment (16 months following the pre-test). The evolution of children's psychological well-being was measured by the Children's Depression Inventory (CDI), the Picturial Scale of Perceived Competence and Acceptance for Young Children (PSPCA), the Children's Nowicki-Strickland Internal-External control scale (CNS-IE), the Children's Action Tendency Scale (CATS), the Revised Children's Manifest Anxiety Scale (RCMAS), and the Pediatric Behavior Scale (PBS). A hierarchical multiple regression analysis was used to assess the strength of the relationship between the level of participation in both individual (including dyadic and family therapy) and group therapy and the evolution of Ss' psychological well-being. RESULTS: Results indicate that the child's mental health was generally positively related to the level of participation in individual therapy but not related or negatively related with the level of participation in group sessions except for the PBS. CONCLUSIONS: These results indicate the need: (a) to consider the adoption of a dose measurement in the appreciation of the therapeutic impact; (b) to have a better grasp of the nature and the effects of specific therapeutic activities included in a program; (c) to have a better understanding of the disparities observed between parents' and children's evaluation of the psychological status of the child.
Control of cell proliferation by Myc.
Myc proteins are key regulators of mammalian cell proliferation. They are transcription factors that activate genes as part of a heterodimeric complex with the protein Max. This review summarizes recent progress in understanding how Myc stimulates cell proliferation and how this might contribute to cellular transformation and tumorigenesis.
Television viewing, physical activity, and health-related fitness of youth in the Québec Family Study.
PURPOSE: To evaluate the relationships among television viewing time (TVTIME), physical activity, and health-related fitness in youth 9-18 years of age from the Québec Family Study. METHODS: The sample included 423 males and 361 females 9-18 years of age from the greater Québec city area. TVTIME, daily energy expenditure (EE), and moderate to vigorous physical activity (MVPA) were estimated. Four health-related fitness variables were tested: knee extension strength, physical work capacity at 150 beats x min(-1), situps, and sum of skinfolds. The body mass index (BMI) was also included. Relationships were assessed using correlations and analysis of covariance. RESULTS: Correlations between TVTIME and EE and MVPA were low and not significant, with no pattern by age group and gender. Those between TVTIME and fitness variables were also low and generally not significant, with no pattern by age and gender. Adolescents in the highest and lowest quartiles of TVTIME showed no consistent differences in EE, MVPA, and the four fitness items. Similarly, adolescents in the highest and lowest quartiles of EE, MVPA, and each fitness item did not consistently differ in TVTIME. CONCLUSIONS: The results indicate that time watching television has only a weak association with indicators of physical activity and health-related fitness in Québec youth. Since the data are from the early 1980s, generalizations to more current samples should be tempered with care.
Dietary fat composition and human adiposity.
OBJECTIVES: This study was undertaken to investigate the relation between dietary fat composition and adiposity in adult men. SUBJECTS: A sample of 128 male subjects who participated in Phase 2 of the Québec Family Study. DESIGN: The association between adiposity and total dietary fat intake (TFI), saturated fat intake (SFA), monounsaturated fat intake (MUFA) and polyunsaturated fat intake (PUFA) was analyzed in the overall sample. A comparison of body fatness was also performed between consumers of high (4th quartile) and low amounts (1st quartile) of TFI, SFA, MUFA and PUFA. RESULTS: Significant positive correlations were found between the percentage of dietary energy as total fat and body fatness. Men in the upper quartile of TFI displayed significantly more adiposity than those in the lower quartile. Significant differences were also observed when quartiles were established using SFA and MUFA. However, higher intakes of PUFA had no statistical effects on adiposity. CONCLUSION: These results confirm the notion that high fat diets might lead over time to excess body fat deposition. SFA and MUFA intake also seem to be predictors of actual adiposity markers while high PUFA intake seems to exert no effect on these markers.
DNA polymorphism in the uncoupling protein 1 (UCP1) gene has no effect on obesity related phenotypes in the Swedish Obese Subjects cohorts.
OBJECTIVE: To investigate the relationships between the A-G point mutation at position -3826 bp in the 5' flanking domain of the uncoupling protein 1 (UCP1 A-3826G) and some obesity phenotypes in the Swedish Obese Subjects (SOS) cohorts of obese and non-obese men and women. Previous studies have supported the hypothesis of an association between the UCP1 A-3826G polymorphism and body weight regulation in humans. DESIGN: Case-control study comparing obese subjects from the SOS registry and a sample of the Swedish general population (body mass index (BMI) <27 kg/m2) with respect to genotype and allele frequencies of the UCP1 A-3826G polymorphism. SUBJECTS: A total of 985 Swedish subjects including 674 obese (310 Male; 364 Female) and 311 non-obese subjects (54 Male; 257 Female) from the SOS cohorts. MEASUREMENTS: DNA was extracted from total blood and genotyped by PCR-RFLP. Obesity-related phenotypes include weight history for SOS obese cohort and current weight, BMI, waist circumference and waist to hip ratio (WHR) for obese and normal weight subjects. RESULTS: No significant difference in the allelic frequencies between obese and non-obese subjects (0.25 vs 0.24; P = 0.67). In both genders, current weight, BMI, waist circumference, WHR and weight gain over time (either measures of maximal weight ever achieved minus weight at 20 y or current weight minus weight at 20 y) were similar in carriers and non-carriers of the UCP1 A-3826G mutation (P>0.05). Similar results were obtained when the three genotypes were compared. CONCLUSIONS: In contrast to what was found in other populations, the UCP1 A-3826G sequence variation is not associated with obesity-related phenotypes and weight gain over time in subjects from the SOS cohorts.
Fat balance and ageing: results from the Québec Family Study.
The aim of the present study was to evaluate changes in participation in physical activity and in fat and alcohol intake associated with ageing. This issue was examined in adults (n 207) who were tested between 1978 and 1982 and re-tested 12 years later. These adults were 42.3 (SD 4.9) years of age at baseline. Their children (n 122) were tested over the same follow-up period. They were, on average, 12.5 (SD 1.9) years at entry into the study. A decrease in the proportion of daily energy intake as fat and an increase in participation in vigorous physical activities were observed over the 12-year period in both groups. The proportion of dietary energy as alcohol remained stable in adults whereas it increased markedly in children. Correlation analyses between baseline and follow-up levels were significant for dietary fat and alcohol intake in adults. In children, the levels of these variables in the growing years did not predict the levels attained 12 years later. Even though the adults displayed changes in fat balance generally following current public health recommendations, a substantial increase in skinfold thicknesses was observed in these subjects during follow-up. This observation suggests that there is a strong effect of age-related factors on fat balance.
Evidence for at least two major loci influencing human fatness.
The genetics of human fatness has been the subject of many recent studies, motivated by the increased morbidity and mortality associated with obesity, as well as the increasing prevalence of overweight and obesity. The body-mass index (BMI) and fat mass (FM), measured by underwater weighing, were assessed for 1,630 individuals from approximately 300 families from phase 1 of the Quebec Family Study. The two phenotypes are highly correlated ( approximately .8) in adults, and previous segregation analysis revealed evidence for a recessive major gene for each trait. In our study, we utilized bivariate segregation analysis to determine the source(s) of phenotypic correlation-namely, a pleiotropic major gene, shared familial factors/polygenes, or shared nontransmitted environmental factors. Analysis was performed by use of the Pedigree Analysis Package, with extensions to the bivariate case. Tests of hypotheses provided evidence for two pleiotropic recessive loci, together accounting for 64% and 47% of the variance in BMI and FM, respectively. Under the model, all sources of phenotypic correlation were significant: 73% of the covariance was attributed to the pleiotropic major loci, 8% to residual familial effects, and 19% to nontransmitted environmental factors. The high degree of genetic identity between the two traits is not surprising, since the BMI often is used as a surrogate for FM; however, simultaneous analysis of both phenotypes enabled the detection of a second major locus, which apparently does not affect extreme overweight (as does the primary major locus) but which affects variation in the "normal" range.
Alterations in resting metabolic rate as a consequence of 20 wk of endurance training: the HERITAGE Family Study.
This study determined the effects of endurance exercise training on the resting metabolic rate (RMR). It was hypothesized that the RMR would be increased posttraining, but that this increase would reflect the influence of the last exercise bout, not a chronic adaptation to exercise training. Seventy-four subjects (40 men and 37 women) aged 17-63 y participated in a 20-wk endurance training program. RMR and maximal oxygen uptake (VO2max) were each measured on 2 separate days both pre- and posttraining; the posttraining RMR measurements were taken 24 and 72 h after the last exercise bout. There were small but significant changes posttraining in relative body fat (-1.0%), fat mass (-0.6 kg), and fat-free mass (0.7 kg) and a 17.9% increase in VO2max. The RMR remained unchanged posttraining, both 24 and 72 h after the last exercise bout, even when the data were adjusted to account for the potential confounding effects of age, sex, body composition, and VO2max. In conclusion, 20 wk of endurance exercise training had no effect on the RMR even in the presence of small changes in body composition and a large increase in VO2max.
Comparison of the myocardial effects of desflurane and isoflurane in healthy patients: assessment by continuous oesophageal aortic blood flow echo-Doppler.
Experimentally, desflurane causes a moderate positive inotropic effect and a transient increase in arterial pressure with rapid increases in concentration compared with isoflurane. We used a continuous oesophageal aortic blood flow echo Doppler device to study the myocardial effects of equi-anaesthetic concentrations of isoflurane and desflurane in 32 healthy patients undergoing superficial surgery. After induction of anaesthesia with midazolam, etomidate and fentanyl general anaesthesia was maintained in 16 patients with 0.6% end-expired concentration of isoflurane and in 16 patients with 3% end expired concentration of desflurane. Isoflurane induced a rapid decrease in aortic blood flow (ABF) which remained almost stable whereas desflurane induced an early, moderate and transient increase in ABF (1 min after introduction of the halogenated agent, mean ABF was 107 (SD 3)% in the desflurane group vs 95 (9)% in isoflurane group compared with control values before introduction of the inhalation agent; P = 0.005), followed by a marked secondary decrease in ABF. The maximal decrease in ABF reached 71 (15)% of its initial value in the desflurane group compared with 80 (14)% in the isoflurane group (ns). Neither agent caused significant changes in other variables except for PE'CO2 which decreased in both groups. Continuous ABF echo-Doppler monitoring demonstrated an early transient positive inotropic effect of desflurane.
Physical activity, genetic, and nutritional considerations in childhood weight management.
Almost one-quarter of U.S. children are now obese, a dramatic increase of over 20% in the past decade. It is intriguing that the increase in prevalence has been occurring while overall fat consumption has been declining. Body mass and composition are influenced by genetic factors, but the actual heritability of juvenile obesity is not known. A low physical activity (PA) is characteristic of obese children and adolescents, and it may be one cause of juvenile obesity. There is little evidence, however, that overall energy expenditure is low among the obese. There is a strong association between the prevalence of obesity and the extent of TV viewing. Enhanced PA can reduce body fat and blood pressure and improve lipoprotein profile in obese individuals. Its effect on body composition, however, is slower than with low-calorie diets. The three main dietary approaches are: protein sparing modified fast, balanced hypocaloric diets, and comprehensive behavioral lifestyle programs. To achieve long-standing control of overweight, one should combine changes in eating and activity patterns, using behavior modification techniques. However, the onus is also on society to reduce incentives for a sedentary lifestyle and over-consumption of food. To address the key issues related to childhood weight management, the American College of Sports Medicine convened a Scientific Roundtable in Indianapolis.
Familial resemblance for VO2max in the sedentary state: the HERITAGE family study.
This study investigates the familial resemblance of maximal oxygen uptake (VO2max) based on data from 86 nuclear families of Caucasian descent participating in the HERITAGE Family Study. In the current study, VO2max was measured twice on a cycle ergometer in 429 sedentary individuals (170 parents and 259 of their offspring), aged between 16 and 65 yr. The VO2max was adjusted by regression procedures for the effects of 1) age and sex; 2) age, sex, and body mass; and 3) age, sex, body mass, fat mass, and fat-free mass, as determined by underwater weighing. Evidence for significant familial resemblance was observed for each of the three VO2max phenotypes. Spouse, sibling, and parent-offspring correlations were significant, suggesting that both genetic and environmental factors contribute to the familial resemblance for VO2max. Maximal heritability estimates were at least 50%, a value inflated to an undetermined degree by nongenetic factors. The hypothesis of maternal inheritance, with the father's contribution being environmental, was also found to fit the data with estimates of maternal heritability, potentially associated in part with mitochondrial inheritance, reaching about 30%. These results suggest that genetic and nongenetic factors as well as maternal influences contribute to the familial aggregation of VO2max in sedentary individuals.
Reproducibility of cardiovascular, respiratory, and metabolic responses to submaximal exercise: the HERITAGE Family Study.
This study determined the reproducibility of cardiovascular, respiratory, and metabolic responses to submaximal cycle ergometer exercise at two power outputs (50 W and 60% VO2max) on each of two separate days in a sample of 390 subjects (198 men and 192 women) participating in the HERITAGE Family Study. The same protocol was conducted across 3 d in an intracenter quality control substudy which included an additional 55 subjects. Reproducibility estimates included technical error, coefficient of variation, and intraclass correlation for each of the selected variables for both subject populations. Further, since the data were collected across four clinical centers, intraclass correlations were also computed separately by clinical center. Most variables were highly reproducible, with coefficients of variation below 9% and intraclass correlations over 0.80. These results were consistent for both subject populations and across all four clinical centers. Reproducibility indicators were generally better at the higher power output. It is concluded that within-subject day-to-day variation and measurement unreliabilities are generally small compared with the between-subject variance in the response to submaximal exercise at each of the clinical centers of the HERITAGE Family Study.
Three mitochondrial DNA restriction polymorphisms in elite endurance athletes and sedentary controls.
This study examined the associations between elite endurance athlete (EEA) status and three mitochondrial DNA (mtDNA) restriction fragment length polymorphisms (RFLPs) in the subunit 5 of the NADH dehydrogenase (MTND5) locus and one in the D-loop region. A group of 125 Caucasian male EEA well endowed with the phenotypic expression of VO2max (78.9 +/- 3.8 mL x kg(-1) x min(-1), mean +/- SD) and 65 sedentary controls (SCON: VO2max = 39.8 +/- 8.2 mL x kg(-1) x min(-1)) participated in the study. VO2max was determined during an incremental exercise test on a cycle ergometer or a motor-driven treadmill. mtDNA was extracted from white blood cells or lymphoblastoid cell lines and specific regions were amplified by the polymerase chain reaction. The Pearson Chi-square statistic test and Fisher exact test revealed no significant association (P > 0.05) between any of the three mtDNA RFLPs and EEA status. The MTND5-BamHI RFLP at bp 13,470 (morph 3) was found in 12.8% of the EEA and 12.3% of the SCON (chi2 = 0.009, P = 0.92). The prevalence of the MTND5-Ncil RFLP at bp 13,364 (morph 2) was 12.9% and 14% for the EEA and SCON, respectively (chi2 = 0.043, P = 0.83). The D-loop-KpnI RFLP at bp 16,133 (morph 1) was found in 5.8% of the EEA and in 1.6% of the SCON (Fisher exact test = 1.80, P = 0.18). The MTND5-HincII RFLP at bp 12,406 (morph 1) was not present in this study sample. These results indicate no evidence for a difference in the frequency of two polymorphic restriction sites in the subunit 5 of the NADH dehydrogenase gene of mtDNA and one in the D-loop region between elite endurance athletes and sedentary controls.