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Basal metabolic rate in the Yakut (Sakha) of Siberia.

Human indigenous circumpolar populations have elevated basal metabolic rates (BMRs) relative to predicted values; this metabolic elevation has been postulated to be a physiological adaptation to chronic and severe cold stress. The present study examines BMR in the Yakut, an indigenous high-latitude population from the Sakha Republic of Russia to determine (1) whether the Yakut show evidence of an elevated BMR, (2) if the Yakut display evidence of age-related changes in BMR, and (3) whether lifestyle differences influence BMR. BMR was measured during the late summer in 75 women and 50 men (ages 18-56 years) from the Siberian village of Berdygestiakh. Measured BMR (+/- SEM) of the entire sample was significantly elevated (+6.5%) compared to predictions based on body mass (6,623.7 +/- 94.9 vs. 6,218.2 +/- 84.7 kJ/day; P < 0.001). Additionally, measured BMR for the entire sample was significantly higher than predictions based on fat-free mass (+20.8%) and surface area (+8.9%). Males and females both showed significant elevations relative to all three standards. The elevated BMR of the Yakut does not appear to be attributable to extreme levels of protein, since the Yakut consume a mixed diet with a substantial proportion of carbohydrates. No significant age-related changes in BMR were found when controlled for body composition. No significant relationship was found between lifestyle variables and BMR, suggesting the possibility of a genetic or developmental mechanism. This study provides additional evidence of metabolic elevation in indigenous circumpolar groups and has important implications for estimating the nutritional requirements of these populations.

Acclimatization↗

Common set of genes regulates low-density lipoprotein size and obesity-related factors in Alaskan Eskimos: results from the GOCADAN study.

Increasing incidence of cardiovascular disease in traditionally low-risk Alaskan Eskimos is a cause for concern. The purpose of this study was to examine the genetic and environmental correlations of low-density lipoprotein (LDL) subfractions with obesity-related factors in Alaskan Eskimos, using data from the first 954 participants of the Genetics of Coronary Artery Disease in Alaska Natives Study. Estimates of genetic and environmental influence were calculated using a maximum likelihood variance component method implemented in SOLAR. Mean values of weight, body mass index (BMI), and waist were 73.4 +/- 0.5 kg, 27.6 +/- 0.2 kg/m2, and 88.0 +/- 0.4 cm, respectively. LDL, and its small (LDL1), medium (LDL2), and large (LDL3) subfractions, had mean values of 115.8 +/- 1.2 mg/dl, 8.3 +/- 0.4 mg/dl, 19.6 +/- 0.8 mg/dl, and 71.5 +/- 1.5 mg/dl, respectively. Bivariate analysis displayed significant genetic correlations between LDL subfractions and obesity-related factors: LDL1 with BMI (rhoG = 0.67, P < 0.05), waist (rhoG = 0.80, P < 0.001), and subscapular and tricep skinfolds (rhoG = 0.93, P < 0.005, and rhoG = 0.78, P < 0.05, respectively); LDL2 with BMI (rhoG = 0.52, P < 0.05), waist (rhoG = 0.46, P < 0.05), and tricep skinfold (rhoG = 0.60, P < 0.05); and mean LDL size with BMI (rhoG = -0.36), waist (rhoG = -0.42,), and subscapular and tricep skinfolds (rhoG = -0.44 and -0.43, respectively) (P < 0.005). These results show that a common set of genes is influencing LDL size and obesity-related factors in Alaskan Eskimos.

Adolescent↗

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

We describe a novel autosomal recessive malformation syndrome in four related individuals from a geographically isolated Native Alaskan community, who have facial defects similar to those of individuals with Treacher Collins (TCS) and Miller syndrome. Distinctive findings include malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. Variable extracranial findings include atrioseptal defect, renal dysplasia, and imperforate anus, however, no limb defects have been observed. Cranial imaging studies demonstrate relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. We propose that these individuals have inherited a novel autosomal recessive condition we have termed oculo-oto-facial dysplasia (OOFD) with unique radiographic findings.

Adult↗

Reliability test of the visual assessment of cranial traits for sex determination.

Interobserver variation in visual evaluation was analyzed for 10 cranial traits in a homogeneous archaeological series. Two observers independently scored cranial traits commonly used for determination of sex. Though determination of sex did not differ significantly for the two observers, individual traits had different levels of interobserver reliability. In addition, indices of relative "maleness" and "femaleness" derived by the two observers differed at statistically significant levels. Because such indices are used in cross-population comparisons of relative gracility and robusticity of diverse samples, these comparisons should be interpreted with caution when more than one investigator has performed an assessment. Most of our instances of interobserver discordance derived from character traits described in subjective terms without accompanying diagrams. Clarity of definition, rather than number of character traits, was found to be critical for effective determination of sex by the visual assessment method. Use of fewer, more precisely defined character traits can improve interobserver reliability.

Cephalometry↗