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Biomedical subjects

C Bouchard

Publications and source records attributed to C Bouchard.

At least 109 records · Page 6Linked to original sources

Physique, subcutaneous fat, adipose tissue distribution, and risk factors in the Québec Family Study.

OBJECTIVE: To investigate the relationships among subcutaneous fatness, subcutaneous adipose tissue (SAT) distribution, somatotype and risk factors for coronary heart disease (CHD). SUBJECTS: The sample included 1410 (715 male and 695 female) youths and adults from the Quebec Family Study. MEASUREMENTS: Six skinfolds and the dimensions necessary for the derivation of the Heath-Carter anthropometric somatotype (endomorphy, mesomorphy, ectomorphy) were measured. The six skinfolds were summed to provide an index of subcutaneous adiposity (SUM). In addition, the trunk-to-extremity skinfold ratio, adjusted for SUM using regression procedures (TER), and the first principal component (PC1) of skinfold residuals (also adjusted for SUM) were used to indicate SAT distribution, independent of the overall level of fatness. Risk factors for CHD included systolic and diastolic blood pressures, and fasting glycaemia, triglycerides (TGs), plasma cholesterol, high and low density lipoprotein (HDL-C and LDL-C) cholesterol, and the HDL-C/total cholesterol (CHOL) ratio. RESULTS: In general, SUM was positively correlated with endomorphy and mesomorphy, and negatively correlated with ectomorphy. On the other hand, SAT distribution was not associated with somatotype, except in females where TER and PC1 were negatively correlated with mesomorphy. Results of forward stepwise regression analyses to predict CHD risk factors, indicated that a significant proportion of the variance in the risk factors could be accounted for by SUM, SAT distribution and somatotype (up to 16%). SUM is the best predictor, entering the regressions first (most important) in six of 15 significant regressions in males and 14 of 16 significant regressions in females. Somatotype components enter as predictors 10 times in males, and six times in females. Similarly, TER and PC1 enter as predictors nine times in males and five times in females. CONCLUSIONS: Somatotype is related to SUM, while somatotype and SAT distribution are largely independent of one another. Furthermore, SUM, somatotype and SAT distribution are significant predictors of biological risk factors for CHD.

Adipose Tissue↗

A mitochondrial DNA D-loop polymorphism and obesity in three cohorts of women.

OBJECTIVE: To examine the hypothesis of an association between a mtDNA D-loop Kpn I restriction site polymorphism (RSP) at base pair (bp) 16,133 (morph-1) and obesity in women. DESIGN: Comparisons of carriers and noncarriers of the mutation for BMI (Body Mass Index) levels and of the frequency of the mutation in obese and normal weight women. SUBJECTS: 567 unrelated adult Caucasian non-diabetic women from the HERITAGE Family Study (n = 63; BMI: 15-47 kg/m2), Quebec Family Study (QFS; 77 controls, BMI: 19-26 kg/m2 and 38 obese, BMI: 27-56 kg/m2) and Swedish Obese Subjects (SOS) Study (81 controls, BMI: 18-26 kg/m2 and 308 obese, BMI: 33-58 kg/m2). MEASUREMENTS: BMI was calculated from weight and height (kg/m2). mtDNA was amplified between base pair 15,928 and 16,500 by polymerase chain reaction (PCR) and digested with the restriction endonuclease Kpn I. RESULTS: No significant differences in the age-adjusted BMI for the mtDNA D-loop Kpn I RSP at base pair (bp) 16,133 (morph-1) between carriers and non-carriers in the HERITAGE cohort. No significant association was found between BMI and the Kpn I RSP carrier status in the SOS and QFS cohorts. The observed frequencies for the Kpn I RSP were not significantly (P > 0.05) different between the SOS controls and SOS obese irrespective of the degree of severity of obesity (BMI > 40, > 45 or > 50 kg/m2). CONCLUSION: We conclude that the mtDNA D-loop Kpn I RSP at bp 16,133 (morph-1) is not a determinant of human obesity.

Adult↗

The prediction of abdominal visceral fat level from body composition and anthropometry: ROC analysis.

OBJECTIVE: To evaluate the merit of body mass index (BMI), % body fat, waist circumference and waist-to-hip ratio as predictors of abdominal visceral fat (AVF) level. DESIGN: Cross-sectional measurements obtained from 458 female and 331 male subjects of French Canadian descent with an age range from 18-72 y. MEASUREMENTS: AVF level was assessed by computed tomography. BMI was calculated as weight (in kg) divided by stature2 (in m), body density was derived from underwater weighing and % body fat was computed from the estimate of body density with the Siri equation. Waist-to-hip ratio was calculated as waist circumference divided by hip circumference. Receiver operating characteristic (ROC) curves were used to identify the optimal cut-off points. RESULTS: In younger women (< 40 y, n = 258), waist-to-hip ratio was the poorest predictor of AVF level with areas under the ROC curves (Az) ranging from 0.684-0.716, sensitivity (Sen) from 63.3-68.8% and specificity (Spe) from 64.0-67.5%, whereas the Az, Sen and Spe for other predictors ranged from 0.924-0.983, 87.0-96.8, and 83.4-92.7, respectively. The same trend was observed in older (> or = 40 y, n = 200) women, although differences between waist-to-hip ratio and other predictors were less pronounced. In older men, waist circumference was the best overall predictor (Az from 0.88-0.92), whereas BMI showed the lowest Az values (0.831-0.875, P < or = 0.001 vs waist circumference). In younger men, BMI had the smallest Az (P < 0.007 vs others) with the lowest AVF cut-off point (100 cm2). However, with higher AVF cut-offs the differences were not significant. CONCLUSION: Waist circumference is the best overall predictor of abdominal visceral obesity, whereas in women waist-to-hip ratio is a poor indicator of AVF and its use as a surrogate measure of visceral fat should be avoided.

Adipose Tissue↗

Contribution of the cholesteryl ester transfer protein gene TaqIB polymorphism to the reduced plasma HDL-cholesterol levels found in abdominal obese men with the features of the insulin resistance syndrome.

OBJECTIVE: The aim of this study was to examine the relation between the CETP-TaqIB polymorphism and reduced plasma HDL-cholesterol levels commonly observed among men characterized by abdominal obesity and features of the insulin resistance syndrome. SUBJECTS: A total of 187 sedentary men, non-smokers and free from metabolic disorders were classified on the basis of their CETP-TaqIB genotype. RESULTS: Plasma HDL and HDL3-cholesterol concentrations as well as the CETP activity were significantly different between the three genotypes, B1B1 men having significantly lower HDL and HDL3-cholesterol levels and higher CETP activity than B2B2 homozygotes. A 2x3 ANOVA was used to determine the source of variation of plasma HDL and HDL2-cholesterol levels among the three genotypic groups of men divided on the basis of either a high (>/=27 kg/m2) or a low (<27 kg/m2) BMI, a high (>/=130 cm2) or a low (<130 cm2) accumulation of visceral adipose tissue assessed by computed tomography, or a low versus a high fasting plasma insulin concentration (using the median value as a cut-off point). The effect of the CETP genotype observed on plasma HDL-cholesterol concentrations was attenuated among men with features of the insulin resistance syndrome. It seems that the expected raising effect of the B2 allele on plasma HDL-cholesterol concentrations was blunted in the presence of a BMI>/=27 kg/m2, a high accumulation of visceral adipose tissue or hyperinsulinaemia. CONCLUSION: Our data indicate that the CETP gene TaqIB polymorphism influences plasma CETP activity on one hand and plasma HDL-cholesterol concentrations on the other hand among men. The association between the TaqIB polymorphism and plasma HDL-cholesterol concentrations is altered by the presence of abdominal obesity and some features of the insulin resistance syndrome.

Abdomen↗

Association and linkage between an insulin-like growth factor-1 gene polymorphism and fat free mass in the HERITAGE Family Study.

OBJECTIVE: To investigate the relationship between a DNA microsatellite marker in the insulin-like growth factor-1 (IGF-1) gene and body composition phenotypes before and following exposure to 20 weeks of aerobic exercise training in the HERITAGE Family Study. DESIGN: A controlled intervention study: fat mass (FM), percentage body fat (%FAT), fat free mass (FFM), body mass index (BMI) and abdominal visceral fat (AVF) at baseline (B) and in response to training (delta=post minus pre-training value) were measured. Association and sib-pair linkage studies were undertaken. SUBJECTS: A maximum of 502 Caucasian individuals (99 families; 190 parents and 312 adult offspring). MEASUREMENTS: The polymorphism was typed by polymerase chain reaction and DNA sequencer. The body composition phenotypes were determined from the underwater weighing method, and AVF was assessed by computerized tomography scan. RESULTS: 11 alleles were found: the lengths ranged from 189 to 209 base pairs (bp), and the frequency of the most common allele, 189 bp, reached 0.71. In association studies, significant differences for B-FM, B-FFM and B-%FAT among the three genotypes (189 bp homozygotes, heterozygotes and non-carriers) were detected. The B-FM for 189 bp homozygotes was 19.7+/-0.6 kg, but 21.6+/-0.7 and 21.3+/-1.5 kg for the 189 bp heterozygotes and the non-189 bp carriers respectively (P=0.03 after adjustment for age, sex and generation). Differences among the three genotypes were also observed for B-%FAT (25.9+/-0.5 versus 27.4+/-0.6 and 26.6+/-1.2 kg; P<0.05) and B-FFM (53.7+/-0.4 versus 54.9+/-0.5 kg and 54.4+/-1.0 kg; P<0.05). No significant difference for B-AVF was found among the three genotypes. Following 20 weeks of endurance exercise, the 189 bp homozygotes gained only about half the amount of FFM compared with the other two IGF-1 genotypes (0.3+/-0.1 vs 0.7+/-0.1 and 0.5+/-0.2 kg; P=0.005). A strong linkage was observed between the IGF-1 marker and the changes in FFM (308 pairs of full sibs, P=0.0002) but only a suggestive linkage with B-AVF (352 pairs of full sibs, P<0.02) CONCLUSION: Associations were detected between the IGF-1 gene marker and FM, %FAT and FFM at baseline, and a strong association with the changes in FFM in response to training. Moreover, the IGF-1 gene marker was found to be strongly linked to the changes in FFM in response to 20 weeks of endurance exercise and weakly linked to abdominal visceral fat in the sedentary state.

Adolescent↗

Seven-year stability of indicators of obesity and adipose tissue distribution in the Canadian population.

BACKGROUND: The prevention of obesity appears to be a better approach than treatment; thus, the prediction of future obesity from current status is important. OBJECTIVE: The aim of the study was to examine the stability of adiposity and adipose tissue distribution (ATD) in the Canadian population. DESIGN: The sample included 1048 males and 1063 females aged 7-69 y at baseline from the Campbell's Survey, a 7-y follow-up of the Canada Fitness Survey. Indicators of adiposity included body mass index (BMI), sum of 5 skinfold thicknesses (SF5), and waist circumference (Waist), whereas indicators of ATD included the ratio of trunk to extremity skinfold thicknesses adjusted for SF5 (TER(adj)), and Waist adjusted for BMI (Waist(adj)). RESULTS: Interage correlations ranged from 0.53 to 0.91 for BMI, from -0.09 to 0.72 for SF5, from 0.24 to 0.89 for Waist, from 0.23 to 0.73 for TER(adj), and from 0.18 to 0.77 for Waist(adj). Correlations for BMI were higher than for SF5, suggesting that fat-free mass may contribute to the stability of BMI. Although lower than those for BMI, correlations for indicators of ATD were significant, indicating a propensity to retain an android or gynoid pattern. Furthermore, the average percentage of participants remaining in the lower or upper quintiles for the various indicators ranged from 37.8% to 66.7% in males and from 47.0% to 65.3% in females, indicating that those in the lower and upper portions of the distribution tend to remain there. CONCLUSION: Obesity and ATD showed significant stability over 7 y in the Canadian population.

Adipose Tissue↗

Alterations in body weight and composition consequent to 20 wk of endurance training: the HERITAGE Family Study.

BACKGROUND: Obesity is a major public health problem in the United States. The role of physical activity and formal exercise in controlling body weight has not been clearly determined. OBJECTIVE: This study determined the magnitude of change in body weight and composition across sex, race, and age in response to 20 wk of endurance training. DESIGN: Men and women (n = 557) of various ages (16-65 y) and 2 races (black and white) exercised on cycle ergometers 3 d/wk for a total of 60 exercise sessions starting at 55% of maximal oxygen consumption (VO(2)max) for 30 min/session and building to 75% of VO(2)max for 50 min/session, where it was maintained during the last 6 wk. Skinfold-thickness measurements, circumferences, body composition (by hydrostatic weighing), and body fat distribution (by computed tomography scan at L4-L5 and the waist-hip ratio) were determined before and after training. RESULTS: All skinfold-thickness and circumference measures, waist-hip ratio, body mass index, total body mass, fat mass, percentage body fat, and computed tomography scan measures of total, subcutaneous, and visceral abdominal fat decreased with training, whereas total body density and fat-free mass increased. These changes were significant, but small. There were several differences in training response by sex and race, but not by age. CONCLUSIONS: A short-term exercise intervention can induce favorable changes in body composition, but the magnitude of these changes is of limited biological significance. Increasing physical activity likely has a major effect on body-composition and fat distribution characteristics only when it is of a greater magnitude and sustained for much longer periods

Adolescent↗

Linkage of the Na,K-ATPase alpha 2 and beta 1 genes with resting and exercise heart rate and blood pressure: cross-sectional and longitudinal observations from the Quebec Family Study.

OBJECTIVE: To investigate whether genetic variations in the genes encoding the alpha and beta subunits of the Na,K-ATPase are linked with hemodynamic phenotypes. DESIGN AND PARTICIPANTS: Cross-sectional data based on 533 subjects (no antihypertensive medication) were obtained from 150 families of phase 2 of the Quebec Family Study, together with longitudinal data from 338 subjects (105 families) who had been measured 12 years earlier in phase 1 of the Quebec Family Study. MAIN OUTCOME MEASURES: Restriction fragment length polymorphisms were examined at the alpha 2 (exon 1 and exon 21-22 with BglII) and beta 1 (Msp I and Pvu II) loci of Na,K-ATPase. Hemodynamic phenotypes measured included systolic and diastolic blood pressure, heart rate and rate-pressure product at rest and during low-intensity exercise. RESULTS: Sib-pair analysis revealed relatively strong linkages (P = 0.0003-0.002) between the resting heart rate and rate-pressure product and the alpha 2 exon 21-22 marker and alpha 2 haplotype. Moreover, the alpha 2 exon 21-22 marker showed suggestive linkages (P = 0.01 to 0.043) with resting systolic blood pressure and exercise diastolic blood pressure, heart rate and rate-pressure product, and the alpha 2 haplotype with exercise diastolic blood pressure and rate-pressure product and the 12-year change in resting systolic blood pressure (P = 0.03 to 0.05). Both the beta 1 Msp I marker and the beta 1 haplotype were linked with the resting rate-pressure product (P = 0.007 and 0.003, respectively), and all beta 1 markers showed linkage with the change in resting systolic blood pressure (P = 0.00005 to 0.024). In men, there was a significant (P = 0.01) interaction between the alpha 2 exon 21-22 genotype and the postglucose plasma insulin level with regard to resting systolic blood pressure. CONCLUSIONS: These data suggest that the alpha 2 and beta 1 genes of Na,K-ATPase contribute to the regulation of hemodynamic phenotypes in healthy subjects.

Blood Pressure↗

Accuracy of prediction equations to estimate submaximal VO2 during cycle ergometry: the HERITAGE Family Study.

UNLABELLED: It was hypothesized that more accurate equations for estimating submaximal VO2 during cycle ergometry could be developed if more independent variables were used in the equation. PURPOSE: The purposes of this study were: (1) to develop new equations for estimating submaximal VO2 during cycle ergometry; and (2) to examine the accuracy of the newly developed equations and those of the American College of Sports Medicine (1995), Berry et al. (1993), Lang et al. (1992), Latin and Berg (1994), and Londeree et al. (1997). METHODS: Subjects (715 men and women, ages 16-65 yr, from the HERITAGE Family Study) completed a maximal cycle ergometry test, two submaximal trials at 50 W and 60% of VO2max, hydrostatic weighing, and stature and body mass measures before and after 20 wk of cycle ergometry training. Regression analysis generated prediction equations using pretraining data from the 60% trials. RESULTS: No equation with more independent variables was better than an equation that used only power output. This equation, HERITAGE-1, with only power output was cross-validated using the "jackknife" technique. Paired t-tests, mean differences, SEEs, and Es were used to compare the VO2 estimated by HERITAGE-1 and those of previously published equations with the measured VO2 at 60% of VO2max. CONCLUSIONS: HERITAGE-1 was slightly better than the equations of ACSM, Lang et al., and Latin and Berg using pretraining data but was not better when using post-training data. All four of these equations were superior to the equations of Berry et al. and Londeree et al.

Adolescent↗

Apolipoprotein E polymorphism and the relationships of physical fitness to plasma lipoprotein-lipid levels in men and women.

PURPOSE: A high level of cardiovascular fitness is generally associated with a plasma lipoprotein-lipid profile predictive of a low cardiovascular disease risk. We have investigated whether apolipoprotein (apo) E polymorphism could alter the relationships of physical fitness to plasma lipoprotein-lipid levels in a sample of healthy untrained subjects (64 premenopausal women and 65 men). METHODS: Subjects were grouped according to gender and apo E phenotype determined by isoelectric focusing electrophoresis. RESULTS: In both genders, VO2max expressed in mL x kg(-1) x min(-1) was negatively correlated with plasma triglyceride levels in apo E2 carriers and apo E3 homozygotes (-0.55< or =r< or =0.31; P<0.05), whereas these associations were not found in apo E4 groups. Plasma low-density lipoprotein (LDL)-C levels were negatively associated with VO2max (r = -0.39; P<0.05) only in women homozygotes for apo E3 whereas VO2max was positively correlated with plasma high-density lipoprotein (HDL)2-C levels only in men (r = 0.51; P<0.001) and women (r = 0.65; P<0.001) who were apo E3 homozygotes. A control for concomitant association with body fat mass and glucose intolerance performed by partial correlation analyses revealed that, with the exception of the plasma HDL2-C levels in the apo E3 homozygotes, most of the significant associations between VO2max (mL x kg(-1) x min(-1)) and plasma lipoprotein-lipid levels were mediated by concomitant variation in body fatness and glucose tolerance. CONCLUSIONS: These results suggest that the magnitude of the relationships between VO2max and plasma lipoprotein-lipid levels is influenced by the apo E polymorphism. Thus, apo E2 carriers may be particularly responsive to improved fitness, thereby preventing the development of hypertriglyceridemia and type III dyslipoproteinemia.

Adult↗

Linkage between a muscle-specific CK gene marker and VO2max in the HERITAGE Family Study.

PURPOSE: We have reported a significant association between VO2max in the sedentary state and its response (delta VO2max) to an endurance training program with a muscle-specific creatine kinase (CKMM) gene polymorphism. The purpose of this study was to test the hypothesis of genetic linkage between the same CKMM marker and VO2max in the sedentary state as well as delta VO2max. METHODS: Sib-pair linkage analysis was performed on 277 full sib-pairs from 98 Caucasian nuclear families of the HERITAGE Family Study. VO2max was measured during cycle ergometry tests before and after 20 wk of endurance training. The CKMM polymorphism was detected by the polymerase chain reaction and digestion with the Ncol restriction enzyme. RESULTS: Frequencies for the rare (1170 base pairs) and common (985 + 185 base pairs) alleles were 0.32 and 0.68, respectively. No significant linkage (t = -0.02, P = 0.49) was detected between the CKMM marker and the age and sex adjusted VO2max (mL x kg(-1) x min(-1)) in the sedentary state. However, after adjustment of delta VO2max for the effects of age, sex, initial VO2max, and body mass, evidence for linkage between the CKMM locus and delta VO2max was suggestive (P = 0.04). CONCLUSION: The present results provide further support for the notion that the CKMM gene, or some gene in close linkage disequilibrium with it, may contribute to individual differences in the VO2max response to endurance training.

Adolescent↗

Reproducibility of maximal exercise test data in the HERITAGE family study.

PURPOSE: The reproducibility of responses to maximal cycle ergometer testing was determined using data from the HERITAGE Family study at four Clinical Centers in the United States and Canada. METHODS: Reproducibility was determined from maximal exercise test data obtained a) on 2 d in a sample of 390 subjects (198 men and 192 women), b) across 4 d in an Intracenter Quality Control (ICQC) substudy with 55 subjects who were not part of the main study, and c) across 2 wk in a Traveling Crew Quality Control (TCQC) substudy with the same eight subjects who were tested at each of the four centers. Reproducibility was evaluated using technical errors, coefficients of variation (CV) for repeated measures, and intraclass correlation coefficients (ICC) for selected variables obtained on the main cohort, as well as on the ICQC and TCQC substudies. RESULTS: With the exception of systolic and diastolic blood pressures and respiratory exchange ratio, all the other variables (heart rate, ventilation, VO2, and VCO2) were highly reproducible, with CV below 10% and ICC over 0.86. These results were similar to those previously reported on the same subjects at a submaximal power output associated with 60% VO2max. Results were consistent for the main cohort, the ICQC sample, the TCQC sample, and across all four Clinical Centers. CONCLUSIONS: Day-to-day variations are small and reproducibility is high for maximal values of heart rate, ventilation, VO2 and VCO2 at each of the four Clinical Centers of the HERITAGE Family Study.

Adolescent↗

Genotype-environment interaction in human obesity.

The data reviewed in this paper reveal that individual differences in the response to alterations in energy balance induced by diet or exercise are ubiquitous. These differences are observed in a variety of obesity-related phenotypes, including body weight, body fatness, and abdominal visceral fat. Although little is known about the causes of the heterogeneity in responsiveness to dietary habits or to regular exercise, the evidence accumulated so far suggests that genetic factors may play an important role in determining the response of body mass and body fat stores to chronic alterations in energy balance. It is likely that genetic variation at several genes contributes to this heterogeneity of responses and thus to the susceptibility to obesity. Research on the genetic and molecular basis of gene-environment interactions has become a major area of investigation. One can, therefore, anticipate that major advances will occur in the coming years with respect to the identification of the genetic and molecular causes of the susceptibility to the most common diseases, including obesity.

Adult↗

Familial aggregation of VO(2max) response to exercise training: results from the HERITAGE Family Study.

The aim of this study was to test the hypothesis that individual differences in the response of maximal O(2) uptake (VO(2max)) to a standardized training program are characterized by familial aggregation. A total of 481 sedentary adult Caucasians from 98 two-generation families was exercise trained for 20 wk and was tested for VO(2max) on a cycle ergometer twice before and twice after the training program. The mean increase in VO(2max) reached approximately 400 ml/min, but there was considerable heterogeneity in responsiveness, with some individuals experiencing little or no gain, whereas others gained >1.0 l/min. An ANOVA revealed that there was 2.5 times more variance between families than within families in the VO(2max) response variance. With the use of a model-fitting procedure, the most parsimonious models yielded a maximal heritability estimate of 47% for the VO(2max) response, which was adjusted for age and sex with a maternal transmission of 28% in one of the models. We conclude that the trainability of VO(2max) is highly familial and includes a significant genetic component.

Adolescent↗

Gender difference in postprandial lipemia : importance of visceral adipose tissue accumulation.

Insulin resistance, hyperinsulinemia, hypertriglyceridemia, and low HDL-cholesterol concentrations are common features of a plurimetabolic syndrome, which increases the risk of coronary artery disease. Although it has been proposed that the development of atherosclerosis through alterations in plasma lipid levels could be a postprandial phenomenon, most studies on gender differences in plasma lipoprotein-lipid concentrations have reported fasting levels. Therefore, the aim of our study was to examine the response of postprandial triglyceride-rich lipoproteins to a standardized meal in 63 men and 25 women. In addition to the measurement of fasting and postprandial plasma lipid levels, numerous physical and metabolic variables were assessed, including body composition by underwater weighing and body fat distribution by computed tomography. Although no gender difference was noted in total body fat mass, men were characterized by a preferential accumulation of abdominal adipose tissue as revealed by an increased waist circumference and a greater visceral adipose tissue accumulation (50% difference) compared with women (P<0.001). Men also showed a greater plasma triglyceride response (P<0.005) as well as increased postprandial insulin and free fatty acid levels compared with women (P<0.01). Visceral adipose tissue was significantly associated with the postprandial triglyceride response in both genders (men: r=0.49, P<0. 0001; women: r=0.43, P<0.05). Finally, when men and women were matched for visceral adipose tissue accumulation, the gender difference in postprandial plasma triglyceride response was eliminated. Thus results of the present study suggest that the well known gender difference in visceral adipose tissue accumulation is an important contributing factor involved in the exaggerated postprandial triglyceride-rich lipoprotein response noted in men compared with women.

Adipose Tissue↗

Linkage and association of the sodium potassium-adenosine triphosphatase alpha2 and beta1 genes with respiratory quotient and resting metabolic rate in the Québec Family Study.

The purpose of this study was to examine the relationship between the alpha2 (exon 1 and exon 21-22 with BglII) and beta1 (MspI and PvuII) genes of the sodium potassium adenosine triphosphatase and resting metabolic rate (RMR) and respiratory quotient (RQ). The sample included 582 participants from 171 families of the Québec Family Study. RMR and RQ were adjusted for age, sex, fat mass, and fat free mass. Sib-pair analyses indicated a significant linkage between RQ and the alpha2 exon 1 marker (P = 0.03) and the alpha2 exon 21-22 marker (P = 0.02). No linkage was detected between the beta1 markers and either RMR or RQ, whereas RMR was not linked with the alpha2 makers. There was a significant interaction (P < 0.0003) between alpha2 exon 1 carrier status and age group [younger (< 45 yr) vs. older (> or = 45 yr) adults] for RQ. The association between carrier status and RQ was significant in younger adults (RQ = 0.76 in carriers vs. 0.80 in noncarriers, P < 0.0001) but was not in older adults (RQ = 0.81 in carriers vs. 0.80 in noncarriers). The alpha2 exon 1 gene accounted for approximately 9.1% and 0.3% of the variance in RQ in younger and older adults, respectively. The results suggest that the sodium potassium adenosine triphosphatase alpha2 gene may play a role in fuel oxidation, particularly in younger individuals.

Adolescent↗

Clinicopathologic findings and prognosis of chronic inflammatory demyelinating polyneuropathy.

OBJECTIVE: To evaluate the clinicopathologic features and prognostic factors of 100 patients with chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Comparison of clinical and biopsy findings with functional score evaluated an average of 6 years after referral. RESULTS: CIDP followed a relapsing course in 14% of the patients and a progressive course in 45%. After progressive onset, little change was noted during follow-up in the others. Five patients had symptomatic involvement of the CNS. Teased fiber preparations of nerve biopsy specimens showed that 68 patients had purely demyelinative lesions, 20 had mixed axonal and demyelinative lesions, and 5 had predominantly axonal lesions. Axonal loss was a common finding, with 47% of the patients retaining less than half of the normal density of fibers. Inflammatory infiltrates, found in 18 samples, were prominent only in 4. Of the 83 patients evaluated an average of 6 years after onset, 56 were in good condition; 24 had deteriorated and failed to respond to treatment, including 9 patients who died as a consequence of their neurologic deficit. Progressive course, CNS involvement, high proportion of fibers showing active demyelination on nerve biopsy, and axonal loss overall correlated with higher disability. CONCLUSION: Axonal loss is the major long-term pejorative prognostic factor in CIDP.

Adolescent↗