bluuebunny/crossref_metadata_2025 huggingface dataset:
Determination of body volume in normal adults and in patients with cerebral palsy by the sulfur hexafluoride (SF6) dilution technique
Authors: Hattori Komei , Matsuzaka Akira , Iwaoka Hiroko , Ohno Kazumasa , Mitani Hisashi
Published: June 2005

This study sought to establish body volume measurement by the sulfur hexafluoride (SF6) dilution technique and to assess the body composition of healthy subjects and patients with the complications of cerebral palsy and mental retardation. Sixty‐six healthy males and females ranging in age from 18 to 41 years and 10 patients with the complications ranging in age from 23 to 34 years participated in the study. The SF6 dilution method determines absolute body volumes by measuring the SF6 concentration inside a closed chamber containing the subjects. No detectable deviations were indicated between the body volume measured by SF6 and the volume determined by underwater weighing (r = 0.999). Body volume for patients with complications was also successfully assessed by the SF6 technique. All 10 subjects were short, but body composition measures were within normal ranges except for two obese females. Inactivity was suggested as a relevant factor for the excess adiposity. Thus, this new method of measuring body volume offers promising possibilities for future research in body composition, especially for application in clinical practice. © 1994 Wiley‐Liss, Inc.
Genetic variation by birth cohorts in Mexican Americans of Starr County, Texas
Authors: Cerda‐Flores Ricardo M. , Barton Sara A. , Hanis Craig L. , Chakraborty Ranajit
Published: June 2005

Mexican Americans residing in Starr County, Texas, were grouped by their year of birth (1896–1925, 1926–1955, and 1956–1985) to determine the extent of birth cohort‐related genetic variation within this population and the genetic differences, if any, from the Mexican population residing in the Metropolitan Monterrey Area (MMA), Nuevo León, México. Twenty‐one genetic markers were analyzed which indicate that the three birth cohort groups are genetically indistinguishable. Gene diversity analysis suggests that more than 99.8% of the total gene diversity can be attributed to variation between individuals within the birth cohort populations and that the subdivision by birth cohort has only a small contribution (0.18%) to the total gene diversity. Genetic admixture analysis indicates a predominant influence from the Spanish, and that the three birth cohort groups were similar in terms of contributions of this ancestral population. The genetic structure of the Mexican American population of Starr County was also similar to the Mexican population from the State of Nuevo León, México. These findings, together with previous results, suggest that the Mexican Americans of Starr County, Texas, classified by gender, birthplace, and age, are not genetically distinguishable and are similar to the Mexican populations of the State of Nuevo León. © 1994 Wiley‐Liss, Inc.
Variation in the anthropometric dimensions for estimating upper and lower body obesity
Authors: Wallace Janet P. , Bogle Phillip G. , Murray Keith T. , Miller Wayne C.
Published: June 2005

A literature review identified 29 anthropometric methods to estimate body fat distribution, but no valid standardized set of criterion values to categorize upper and lower body obesity. The purpose of this investigation was to observe the influence of different anthropometric methods for categorizing upper and lower body obesity. Three common girth methods (waist:iliac crest, iliac crest: hip, and waist:hip) for waist to hip ratios (WHR) and one common skinfold method for trunk to extremity ratio were compared in 119 obese women (38.4 ± 5.3% fat) and 81 obese men (31.3 ± 5.2% fat). Significant differences were found in the WHR among all three girth methods for women, but for only the waist:hip method for men. A significant interaction between method and sex was also apparent. The different WHR methods resulted in a significantly different percentages of the population categorized as having lower, normal, and upper body obesity. Kappa statistics demonstrated significant agreement among the three methods to place subjects into similar fat distribution categories for men (κ = 0.133; z = 4.03), but not for women (κ = 0.059; z = 2.20). There was also no significant correlation between any of the circumference and skinfold methods for men (r = 0.20, 0.10 and 0.15, respectively); yet, significant correlations were found between the iliac crest:hip (r = 0.30) and waist:hip (r = 0.45) methods and the skinfold method for women. In summary, girth methods for estimating body fat distribution in terms of lower and upper body obesity need validation and standardization. © 1994 Wiley‐Liss, Inc.
Resting metabolic rate and daily energy expenditure among two indigenous Siberian populations
Authors: Katzmarzyk PT , Leonard WR , Crawford MH , Sukernik RI
Published: June 2005

Resting metabolic rate (RMR) and total daily energy expenditure (TDEE) were measured on a sample of 47 adults (35 males, 12 females) from two indigenous Siberian populations, the Evenki and Keto. The Douglas bag method of indirect calorimetry was used to measure the energy cost of lying, sitting, standing, and three exercise levels of the Canadian aerobic test of fitness (step test). The flex‐heart rate method of heart rate monitoring (flex‐HR; Spurr et al. [1988], Am. J. Clin. Nutr. 48:552–559) was utilized to predict TDEE from the measured energy costs. Measured RMR was 6.66 kJ/min (1.59 kcal/min) for males and 5.19 kJ/min (1.24 kcal/min) for the females. Subjects living in the bush in brigade work parties had significantly higher RMRs than those residing in the villages. Comparison of RMR to selected populations suggests that the elevated metabolism of the subjects living in the brigades is due to short‐term environmental acclimatization to the ambient conditions of the taiga rather than long‐term adaptation to living in a northern climate. TDEE was estimated at 11.8 ± 3.0 MJ (2,815 kcal) for men and 8.6 ± 1.9 MJ (2,056 kcal) for women, and there were no brigade‐town differences in DEE. Based on their physical activity level (PAL = TDEE: basal metabolic rate [TDEE:BMR]), which was 1.77 for males and 1.59 for females, the Evenki and Keto have “moderately” active lifestyles during the summer according to FAO/WHO/UNU guidelines (FAO/WHO/UNU [1985] WHO Technical Support Series No. 724). © 1994 Wiley‐Liss, Inc.
Anthropometry and secular changes in stature of urban Colombian women of differing socioeconomic status
Authors: Dufour DL , Staten LK , Reina JC , Spurr GB
Published: June 2005

Anthropometric dimensions were taken on 1,572 women, 18–44 years of age, from Cali, Colombia, from three different socioeconomic (SEC) groups: low (LEC), mid‐low (MLEC), and upper (UEC). LEC and MLEC women were significantly shorter and had higher body mass indices (BMIs) than UEC women, and a significantly larger number had BMIs over 27.3 kg/m2. There were no significant differences between SEC groups for skinfolds on the arm, but skinfolds on the trunk, the subscapular–triceps ratio, and the waist–hip ratio followed an inverse SEC gradient, indicating a greater tendency for upper body fat distribution in the lower SEC groups. SEC differences in body fatness and fat distribution diminished with age, suggesting that health risks associated with obesity and an upper body fat distribution may be similar in all three groups by ages 40–44 years. Secular changes in stature were similar, 0.12 cm/year for LEC/MLEC women and 0.15 cm/year for UEC women, and there was no indication that the statural differences between the groups is diminishing. The results indicate that women from Cali exhibit anthropometric characteristics seen in both developing countries (stature positively associated with SEC) and developed countries (fatness and centralized fat distribution inversely related to SEC). These findings may reflect the relative economic prosperity of Colombia as a “developing country”. © 1994 Wiley‐Liss, Inc.
Relationship between frame size and fatness in children and adolescents
Authors: Martinez Emilio , Bacallao Jorge , Devesa Mayra , Amador Manuel
Published: June 2005

In order to evaluate variation in body fatness by category of frame size (small, medium, and large) during growth, a sample of 7,286 Cuban children and adolescents (3,721 males, 3,565 females) 5–20 years was surveyed. Fatness was estimated from skinfold thicknesses at four sites: subscapular, triceps, suprailiac, and posterior calf. Elbow breadth was used as an estimate of frame size. Generally, the larger the frame size, the greater the amount of subcutaneous fat regardless of age and sex. The results suggest that in the assessment of obesity and its associated risk, in children and youth, frame size, given by categories of elbow breadth, should be taken into account. © 1995 Wiley‐Liss, Inc.
China productivity project: General description and analysis of productivity
Authors: Steegmann A. Theodore , Li Tian Lin , Hewner Sharon J. , Emmer Daniel W. , Zhang Xiufen , Leonard William R.
Published: June 2005

The amount of work that people do is a focal point of human life, an outcome with extraordinarily complex roots. The physical task itself, the natural setting, biological work capacity, and behavioral patterns presumably condition productivity. This paper presents a model by which work output of Chinese cycle haulers was investigated, and outlines investigative techniques including work physiology, health assessment, cold response, and ethnography of the workplace and home. The objective is to explain variation in work done on a daily, monthly, and seasonal basis. This paper also quantifies work output, or productivity, using long‐term pay records as measures of productivity. While pay records, which show statistically normal distributions, serve as the primary dependent variable in the analysis, field observations and experiments offer supplementary data on the behaviors that produce work output. In a sample of 48 men, various measures of biological capacity and behaviors, such as motivation, predict overall productivity regardless of season. Since mean daily pay and monthly pay have different predictors, there is much individual choice in how many days per month one works. © 1995 Wiley‐Liss, Inc.
Genetic affinities between the migrant and parental populations of fishermen, East coast, India
Authors: Reddy B. Mohan , Chopra Virendra P. , Rodewaldt Alexander , Dey Badal , Veerraju P. , Reddy T. Ramana , Balakrishna A. , Rao T. V.
Published: June 2005

Genetic affinities between the migrant groups of fishermen from Puri and their parental counterparts in the Southern areas were examined using 11 genetic loci: four blood groups, five red cell enzymes, and two serum proteins. The samples for the parental populations (about 430 subjects) were drawn from 34 villages spread along the 400 km coast in Ganjam district of Orissa and the contiguous Srikakulam, Vishakhapatnam, and East Godavari districts of Andhra Pradesh. Significant departures between the migrant groups and their parental counterparts were observed at some loci, although the configuration of interpopulation distances among the migrants mimicked that of the parental populations. While the observed differences may be due to a founder effect and subsequent random genetic drift in at least two of the three small populations, given high child mortality and the systematic nature of differences observed, the role of selection cannot be totally ruled out. © 1995 Wiley‐Liss, Inc.
Gene frequencies and admixture estimates for ABO, Rho(D), and MN blood groups in persons with mono‐ and polyphletic surnames in monterrey, N.L., Mexico
Authors: Garza‐Chapa Raul , Davila‐Rodriguez Martha I. , Leal‐Garza Carlos H. , Gonzalez‐Quiroga Guillermo , de los Angeles Rojas‐Alvarado Ma.
Published: June 2005

A sample of 3,211 males and females insured by the Instituto Mexicano del Seguro Social (I.M.S.S.) residing in the Monterrey Metropolitan Area (MMA), northeastern Mexico, were selected by their monophyletic or polyphyletic surnames. ABO, Rho(D), and MN blood groups were determined, and phenotype and gene frequencies were estimated to study the genetic variation among populations with these surnames, to estimate the genetic contribution from their most important ancestral populations, both Spanish and Mexican Indians, and to compare genetic structure with other populations that have been reported from this MMA and other urban centers in Mexico with the hypothesis that the persons with monophyletic surnames are the closest descendants of the founders, who colonized the MMA between 1577 and 1596, and that they still conserve some degree of genetic isolation. The results indicate that the selected persons with monophyletic surnames are the closest to the Spanish, supporting the above hypothesis; on the other hand, persons with polyphyletic surnames are the closet to other Mestizo populations from central Mexico and the Mexican Indians. Hybrid persons with one monophyletic and one polyphyletic surname are closer to the monophyletics due to the fact that 90% of these polyphyletics originated in northeastern Mexico. It is concluded that, at present, the Mestizo population from the MMA is integrated by two subpopulations, one with monophyletic and the other with polyphyletic surnames. It is suggested that due to an increase in migration in Mexico, the Mestizo genetic structure of the MMA population will slowly become more uniform. © 1995 Wiley‐Liss, Inc.
Sex differences in the response of blood pressure to modernization
Authors: Schall Joan I.
Published: June 2005

Sex and age differences in the incidence of hypertension and blood pressure (BP) levels and their concomitants are examined among the Manus of Papua New Guinea in the context of modernization. For Manus men, BP increases directly with both degree of modernization and duration of migration to the local towns and larger cities of Papua New Guinea, accompanied by similar increases in body mass and subcutaneous fat. For Manus women, however, although body mass and fatness increase along the modernization continuum, BP does not. Risk for hypertension (140/90 mm Hg) was increased fourfold among men who resided in town (adjusted odds ratio [AOR] = 4.4, 95% confidence interval [CI] 1.5–13.2) and also among those who were in the highest tertile of fatness (AOR = 4.1, 95% CI 1.6–10.4). Among women, older age (≥45) alone significantly increased risk tenfold (AOR = 10.5, 95% CI 1.7–66.8). Using a Mantel‐Haenszel χ2, a meta‐analysis of sex and age differences in relative risk for hypertension (160/95 mm Hg) among 20 Pacific populations, 9 traditional living and 11 undergoing modernization, was performed. While young men showed increased risk in modernizing populations (summary relative risk [SRR] = 1.34, 95% CI 1.12–1.60), older men had significantly reduced risk for hypertension compared with women in both traditional (SRR = 0.46, 95% CI 0.33–0.64) and modernizing groups (SRR = 0.70, 95% CI 0.59–0.84). This crossover between the sexes with advancing age is also evident for BP levels in a larger sample of societies and suggests a biological basis for hypertension risk. © 1995 Wiley‐Liss, Inc.
Gender differences and similarities in effects of nonpharmacologic approaches to the treatment of mild hypertension
Authors: Wassertheil‐Smoller Sylvia , Davis Barry R. , Oberman Albert , Blaufox M. Donald , Kirchner Kent
Published: June 2005

TAIM, the Trial of Antihypertensive Interventions and Management, studied the effects of dietary sodium restriction or weight reduction, alone and in combination with low‐dose diuretic or beta blocker on blood pressure after 6 months. The responses to these interventions of men compared to women are presented for those persons randomized to placebo drug. Men undergoing a weight‐reduction intervention were able to lose more weight (5.9 kg) than women (3.1 kg), P ⩽ 05. Men also had a greater percentage of wright loss and a greater reduction in body mass index (BMI), although not significantly so. Weight loss was correlated to a decrease in triglycerides (r = 0.37), but not in cholesterol. The weight‐reduction intervention lowered triglycerides more in men (−81 mg/dl) than in women(−21 mg/dl; P = .008). There were no sex differences in abiility to reduce sodium or increase potassium for those in the sodium restriction group. Both men and women decreased their sodium to the same extent by 36 mmol/day and 25 mmol, respectively, and increased their potassium by 13 mmol and 11 mmol, respectively. Blood pressure response at 6 months was greater in men than in women on weight reduction (a drop in diastolic pressure of −11 mmHg in men and 7 mmHg in women, P =.04). Sodium restriction had a similar effect on blood pressure in both sexes, and among men resulted in a significantly smaller reduction in blood pressure than did weight reduction. © 1995 Wiley‐Liss, Inc.
Head circumference for Mexican American infants and young children from the Hispanic health and nutrition examination survey (HHANES 1982–1984): Comparisons with Whites and Blacks from NHANES II (1976–1980)
Authors: Wellens Rita , Roche Alex F. , Ryan Alan S. , Guo Shumei , Kuczmarski Robert J.
Published: June 2005

This study presents descriptive statistics for head circumference in Mexican American children 6 months to 7 years of age using data from the Hispanic Health and Nutrition Examination Survey (HHANES, 1982–1984) and compares these statistics with national estimates of head circumference for non‐Hispanic White children and non‐Hispanic Black children from the Second National Health and Nutrition Examination Survey (NHANES II, 1976–1980). Head circumference was measured in the same standardized fashion in the two surveys. The patterns of change with age in means and in empirical percentiles were similar for both genders and for all three ethnic groups. Values for head circumference increased with age, but the rate of increase became less as age advanced. Analyses indicated that at 1, 2, and 4 years of age, mean values for head circumferences for non‐Hispanic White boys were significantly larger than those for Mexican American boys. The differences in mean values for head circumferences ranged from 0.7 to 1.1 cm. Because ethnic differences in head circumferences are small in magnitude, ethnic‐specific sets of reference data for head circumference are not needed for clinical evaluation of Mexican Americans, non‐Hispanic Whites, and non‐Hispanic Blacks. Further analyses may be necessary when additional information from NHANES III allows the calculation of the 5th and 95th percentiles for Black and Mexican American children with small confidence limits. © 1995 Wiley‐Liss, Inc.
Birth weight and childhood size in a national sample of 6‐ to 11‐year‐old children
Authors: Brody Debra J. , Flegal Katherine M. , Gergen Peter J.
Published: June 2005

The extent to which body size (stature, weight, or weight‐for‐stature) in later childhood is related to birth weight for normal‐weight, full‐term infants was explored using data from a national sample of U.S. children examined in Cycle II of the National Health Examination Survey, 1963–65. Standardized measurements of stature and weight from 4,689 white singletons ages 6–11 years were linked with birth certificate information. There were small but consistent positive associations of attained stature and weight with birth weight. The Body Mass Index (BMI), a measure of weight in proportion to stature, was also positively related to birth weight, although not as consistently, suggesting that the greater attained weight of higher birth weight children may be related to increased adiposity as well as to greater stature. However, simulations of the effect of an across‐the‐board increase in birth weight by 100 g or 200 g showed a negligible expected increase in the number of children with high BMI values. These findings indicate that birth weight is directly or indirectly a factor related to growth in childhood, but that upward shifts in the distribution of birth weight would have little effect on the prevalence of childhood obesity. © 1995 Wiley‐Liss, Inc

This article is a US Government work and, as such, is in the public domain in the United States of America.

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Prognostic performance of several anthropometric indicators for predicting low and insufficient birth weight
Authors: Jiménez Rafael , Bacallao Jorge
Published: June 2005

Weight gain and several anthropometric indicators were studied in a sample of 181 pregnant women. The period considered ranged from the 12th to the 34th weeks of gestation. Changes in all of the attributes were calculated and related to a birth weight below 3,000 g. Optimal cut‐off points for each indicator were defined as those which minimize a loss functioin which depends on the rates of false positive and false negatives. The independent predictive capacity of each attribute was assessed by means of sensitivity, specificity, positive and negative predictive values, relative risk, and two “measures of detectability” associated to the ROC (relative operating characteristic) curve of the attribute. A logistic regression model was fitted by searching for the best combination of indicators. The individual predictive capacities of the attributes were considerably improved when they were combined into a logistic equation. © 1995 Wiley‐Liss, Inc.
Population differences in cardiovascular reactivity to the cold pressor test
Authors: Duncan Margaret T. , Husain Ruby , Chen Hui‐Min , Horvath Steven M.
Published: June 2005

The interaction of race and climatic adaptation on patterns of cardiovascular reactivity among young adult males was examined. Malay and Chinese subjects living in a tropical climate in the Orient and Caucasians living in a sub‐tropical climate in North America were investigated. The cold pressor test with hand immersion in cold water was used as the stressor. Systolic and diastolic blood pressures, cardiac frequency, cardiac output, and stroke volume were measured. The results provided limited evidence for absence of differences in cardiac reactivity among racial groups and for greater vascular reactivity in the Caucasians. Cold immersion also elicited differential responses which could be partially attributed to differences in acclimatizations status. © 1995 Wiley‐Liss, Inc.
Growth of a national sample of Israeli children: Are local standards needed?
Authors: Palti H. , Adler B. , Bendel J.
Published: June 2005

Statures and weights of two national samples of Jewish children, from 9–15 months and 7–10 years of age, and their birth weights were studied, based on personal records (n = 7,532 and 4,638 respectively). Comparison with the National Center for Health Statistics (NCHS) median indicated that the median birth weight of the population is similar to the reference population. At both ages, males and females were slightly lighter and shorter than the reference data. Although the differences are small, <25% of the respective standard deviations for weight and stature, they are statistically significant due to the large sample sizes. The magnitude of the difference, however, has no biological meaningfulness. Jewish children of Asian and African origin have lower weights and statures at 8.75 years of age than Jewish children of European or American origin. The maximal differences between the ethnic groups are 1.4 kg and 2.5 cm in males after adjusting for maternal education, age, and birth order. The similar growth of Israeli children relative to NCHS reference data suggests that their growth is relatively unconstrained. The NCHS data are thus the reference of choice for the Israeli Jewish population. The small difference between ethnic groups, the continuously changing ethnic composition, and the homogenization of the population over time justify use of one standard for the heterogeneous Israeli population. Worldwide migration in the 1990s, considerable immigration to Israel, and heterogeneous gene pools in most countries make the construction of local standards irrelevant. © 1995 Wiley‐Liss, Inc.
Effects of religion, economics, and geography on genetic structure of Fogo Island, Newfoundland
Authors: Crawford M. H. , Koertevlyessy T. , Huntsman R. G. , Collins M. , Duggirala R. , Martin L. , Keeping D.
Published: June 2005

The population structure of Fogo Island, Newfoundland is described using geography, religious affiliation, economic factors (such as the presence of a fish‐packing plant), and genetic markers. Five different analytic methods, R‐matrix analysis, rii VS. mean per locus heterozygosity, predicted kinship (ϕ), mean first passage time, and Mantel matrix comparisons, were applied to the Fogo Island genetic and demographic data. The results suggest that geography plays a role on Fogo Island in the distribution of genes, while religion, ethnicity, and economic factors play less significant roles. The communities with fish‐packing plants and tourism serve as migratory “sinks” for Fogo islanders seeking employment. Reproductively, the most isolated village on Fogo Island is Tilting, and this is reflected in its genetic uniqueness, initially caused by Irish settlement and subsequently the action of stochastic processes. © 1995 Wiley‐Liss, Inc.
Associations between maternal and fetal serum levels of immune activation markers and fetal growth
Authors: Hoff Charles , Peterson Raymond D. A.
Published: June 2005

During pregnancy, signs of maternal immunologic sensitization to fetal HLA and other fetoplacental alloantigens are often detectable in peripheral blood. Presumbly, this in part reflects immune activity at the maternal‐fetal interface. This response may involve activation of maternal T cells, which stimulate placental growth via lymphokine production. To shed light on this mechanism, data on placental weight, neonatal anthropometry, gestational age, fetomaternal HLA relationships (reflecting a potential for HLA allosensitization), and serum levels of three immune activation markers in maternal and cord blood were collected in a sample of 61 primiparous women and their neonates. The activation markers were soluble CD8 antigen (sCD8), interleukin‐2 receptor (sIL‐2R), and beta‐2 microglobulin (β2m). Mean fetal and maternal sCD8 and β2m levels, and mean fetal sIL‐2R levels were significantly higher than published norms. Fetal means for all three markers exceeded maternal means, and both sIL‐2R and β2m were highly correlated between mother and fetus. This suggests that fetal sIL‐2R and β2m levels result in part from transport or diffusion from the maternal compartment. No associations were found between fetomaternal HLA relationships, activation markers, and placental weight. The difference between the fetal and maternal β2m value was significantly correlated with birth weight, controlling for chest circumference and crown‐heel length. Associations between birth weight and fetomaternal HLA relationships could not be interpreted with certainty. These findings suggest that maternal immune activation and diffusion or transport of β2m into fetal compartment enhances fetal growth in fat‐free body mass. © 1995 Wiley‐Liss, Inc.
Coca chewing among high altitude natives: Work and muscular efficiencies of nonhabitual chewers
Authors: Brutsaert Tom , Milotich Mark , Frisancho A. Roberto , Spielvogel Hilde
Published: June 2005

The leaves of the coca plant (Erythroxylum sp.) have long been chewed by natives of the highland Andes. Folk belief is that the mild stimulant effect is indispensable as an ergogenic aid for strenuous work activities in a high altitude environment. This study explored the exercise responses of 23 nonhabitual coca chewing males who were asked to pedal a bicycle ergometer through a series of submaximal and maximal workloads both with and without coca chewing. The protocol of the exercise test was specifically designed to allow for the determination of work and muscular efficiencies during to submaximal work. The subjects showed no differences between the coca and control work protocols for VO2max (1/min), VCO2max (1/min), or maximal work output (watts). Further, there were no differences between coca and control work protocols in oxygen saturation (%), pulmonary ventilation (1/min), or respiratory exchange ratio (VCO2/VO2) at any level of work. Coca chewing caused subjects to have a higher heart rate (bpm) and lower oxygen pulse (ml/beat) for most submaximal workloads and higher ventilatory equivalents (VE/VO2 and VE/VCO2) above 50% of VO2max. Although there was a tendency for higher gross efficiencies (GE) during the coca exercise test at lower relative work levels, between 30–40% of the VO2max, this difference did not reach significance. Mean net efficiency (NE) was higher (P=0.018) at a relative work level of ∼32% of the VO2max for exercise with coca (23.2% vs. 20.8%). This difference was not apparent at any other work level. The mean delta efficiency (DE) was significantly lower (P = 0.012) for exercise with coca (26.7%) than for exercise without coca (28.2%). These efficiency differences suggest a muscle metabolic effect for coca chewing at low workloads whereby less oxygen is consumed by the muscle to perform a given work task. Howeve, given the difficulty of interpreting efficiency values, it is not entirely clear if the differences are indicative of a work performance benefit for coca chewing. © 1995 Wiley‐Liss, Inc.
Red cell enzymes and plasma protein polymorphisms in the population of Cabo Verde (West Africa)
Authors: Parra E. J. , Ribeiro J. C. Teixeira , Riveiro A. , Vide M. C. , Llano C. , Caeiro J. L. B.
Published: June 2005

The genetic polymorphism of six red cell enzymes (ADA, AK1, ALAD, ESD, GLO1, and PGD) and 10 plasma proteins (AHSG, BF, F13A, F13B, GC, HP, ORM, PLG, TBG, and TF) is analyzed in a sample of 268 unrelated individuals from Cabo Verde (West Africa). The population of Cabo Verde was founded in the 15th century (1462), on the basis of a great number of slaves brought from the West African coast and a few Europeans, mainly from Portugal. The frequencies found in Cabo Verde for the majority of the markers are intermediate between those reported for Africans and Europeans. Further, the presence of alleles which are rarely or never seen in Blacks, but are common in Caucasians, suggest a substantial contribution of Europeans to the gene pool of the population of Cabo Verde. © 1995 Wiley‐Liss, Inc.
Haptoglobin and birth weight in a Bengalee population
Authors: Bandyopadhyay Arup Ratan
Published: June 2005

A close relationship between birth weight and synthesis of haptoglobin was found in a study of cord blood derived from newborns. Newborn infants with detectable haptoglobin types showed, on average, significantly higher birth weight than those without detectable haptoglobin types under normal conditions. © 1995 Wiley‐Liss, Inc.
Genetic estimation of the humoral responses to several infectious agents
Authors: Kacprzak‐Bergman Irma
Published: June 2005

Heritabilities of antibody levels to measles, rubella, and mumps were estimated in 88 MZ and DZ twin pairs. The contribution of genetic factors in phenotypic antibody levels to measles was somewhat lower than environmental factors in both sexes (h2= 0.450 and 0.459). A significantly stronger genetic than environmental control of anti‐mumps antibody levels was evident in both sexes, but more so in females (h2 = 0.882) than in males (h2 = 0.626). The genetic determination of anti‐rubella antibodies was also significantly higher in girls (h2 = 0.833), while environmental determination was greater in boys (h2 = 0.350). © 1995 Wiley‐Liss, Inc.
Mucolipidosis I — A sialidosis
Authors: Spranger J. , Gehler J. , Cantz M. , Opitz J. M.
Published: June 2005

Mucolipidosis I is characterized by Hurler‐like features and skeletal dysplasia with a cherry‐red macular spot and signs of neurodegeneration involving neuronal cells and myelin. Excessive amounts of sialic acid‐containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an α‐N‐acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.
Isolated acid neuraminidase deficiency: A distinct lysosomal storage disease
Authors: Kelly Thaddeus E. , Graetz Geoffrey , Opitz J. M.
Published: June 2005

An 8‐month‐old female presented with coarse facies and hepatosplenomegaly at birth. Growth proceeded at an accelerated rate and mental development was normal. A pattern of dysostosis multiplex developed radiographically. Cytoplasmic inclusions consistent with lysosomal storage disease were demonstrated by electron microscopy in bone marrow, liver, and cartilage cells and in cultured skin fibroblasts. Assays of the fibroblasts revealed a specific deficiency of acid neuraminidase and 6‐fold increase in intracellular bound sialic acid. An unidentified macromolecular compound rich in sialic acid was excreted in excessive amounts in the urine. The phenotype suggests defective degradation primarily of glycoproteins and possibly to a lesser extent of keratan sulfate and gangliosides.
Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers
Authors: Martsolf John T. , Hunter Alasdair G. W. , Haworth James C. , Herrmann J.
Published: June 2005

Two severely mentally retarded brothers are described who had a similar facial appearance, cataracts, short stature, minor digital abnormalities, and primary hypogonadism. Their parents were first cousins. Numerous laboratory investigations failed to elucidate a basic metabolic cause for their disorder.
X‐inactivation pattern in three cases of X/autosome translocation
Authors: Zabel Bernhard U. , Baumann Walter A. , Pirntke Wilfried , Gerhard‐Ratschow Kathrein , Francke Uta
Published: June 2005

We describe an X/15 translocation which was balanced in a phenotypically normal mother [46,X,t(X;15) (p22;q15)] and unbalanced in her phenotypically abnormal daughter [46,X,der(X),t(X;15) (p22;q15)mat]. A third case involves a balanced X/21 translocation in a girl with a multiple congenital anomaly‐retardation syndrome [46,X,t(X;21) (p11;p11?)]. 5‐Brd U acridine orange banding on lymphocytes revealed late replication of the normal × chromosome in the mother and of the normal or abnormal × chromosome in the two other cases. Our findings are only partially consistent with previous observations. All X‐inactivation patterns can be explained by random inactivation and subsequent selection against specific cell lines. Furthermore, the findings in our patient with X/21 translocation support the hypothesis of the existence of one inactivation center on Xq.
Autosomal dominant inheritance of annular pancreas
Authors: Jackson Laird G. , Apostolides Panayotos , Herrmann J.
Published: June 2005

This report describes a family with apparent autosomal dominant transmission of congenital annular pancreas. Four individuals in two generations were affected; all developed duodenal obstruction. The implications for genetic counseling are discussed.
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs
Authors: Schinzel A. , Giedion A.
Published: June 2005

A brother and sister presented with an uncommon malformation syndrome consisting of severe midface hypoplasia, congenital heart defect, hydronephrosis, clubfeet, hypertrichosis, hypoplasia of dermal ridges, and radiographic skeletal anomalies in the skull, hands and feet. The boy died shortly after birth; the girl lived for 16 months and exhibited severe failure to thrive, epilepsy, diminished growth, and profound motor and intellectual retardation. Additional observations include postaxial hexadactyly in the girl, and mesomelic brachymelia and peculiar, narrow fingernails in the boy. The occurrence of the syndrome in two sibs of different sex suggests autosomal‐recessive inheritance.
Lipoprotein immunogenetics and atherosclerosis
Authors: Rapacz Jan , Opitz John M.
Published: June 2005

The discovery of the first human lipoprotein polymorphism by Allison and Blumberg [Lancet i:634‐637, 1961] and the availability of alloimmune sera stimulated us to begin immunogenetic studies on swine in search of lipoprotein diversity and its relationship to biological functions. We found considerable lipoprotein polymorphism, complexity, and heterogeneity in this species. These results and the correlation between immunogenetically defined lipoprotein type and arterial lipidosis in swine, fed a high fat diet, are discussed. Immunogenetic studies of lipoproteins, initiated more recently in rhesus monkeys, will be reviewed also. Preliminary data show similarities between these two species with regard to polymorphism, complexity, phenotypic expression of lipoprotein genes and, most importantly, their serological relationship to human lipoproteins. We also note immunogenetic studies on lipoproteins done by other investigators, or in other species. Brief remarks on implications of the lipoproteins in atherosclerosis, their general classification, immunological properties, and immunological methods used in their study precede the immunogenetic presentation.
Familial non‐Hodgkin lymphoma: Histologic diversity and relation to other cancers
Authors: Greene Mark H. , Miller Robert W. , Herrmann J.
Published: June 2005

Familial non‐Hodgkin lymphoma (NHL) cases were classified according to the histologic criteria (modified) of Rappaport, to determine the extent of morphologic similarities of the tumors. In four families affected members had different tumor histologies that may be observed in an individual patient as the lymphoma progresses. In two families, the affected relatives had tumors of seemingly discordant histology. These tumors may nonetheless be etiologically related as indicated by the pattern of laboratory abnormalities, especially immunologic, in affected as well as unaffected members. The 20 cases had a reversal of the sex ratio (M/F) usually seen in NHL: 0.5 instead of 1.3. Other tumors observed in these families included primary hepatocellular carcinoma, pulmonary adenocarcinoma, Hodgkin disease, and acute lymphocytic leukemia ‐ all of which have been associated with inborn or acquired immunodeficiency states.
Alkaptonuria in the Trenčín District of Czechoslovakia
Authors: Sršeň Štefan , Cisárik František , Pásztor Ladislav , Harmečko Ladislav , Opitz John M.
Published: June 2005

For several years the Clinical Genetics Research Laboratory at Martin, Czechoslovakia, has been studying alkaptonuria (AU) in the northern part of the District of Trenčín in Slovakia. These affected individuals are part of a group of 103 alkaptonurics originated mostly in the mountainous parts of Slovakia. We report results of pedigree analyses; population and affected‐family biochemical urine screening; estimation of inbreeding coefficient, of exogamy rate and of average marital distance and of calculation of the frequency of the AU allele, and of homozygotes and jeterozygotes in this portion of the Trenčín District. Twelve homozygotes were found, but seven originated from a single hamlet in which a founder effect – genetic drift and inbreeding – are thought to account for the high prevalance of AU.
Spreading of inactivation in an (X;14) translocation
Authors: Allderdice Penelope W. , Miller Orlando J. , Miller Dorothy A. , Klinger Harold P. , Opitz John M.
Published: June 2005

In the KOP translocation, t(X;14) (q13; q32), virtually the entire long arm of the X has been translocated to the end of the long arm of chromosome 14. Meiotic secondary nondisjunction in a female balanced carrier of the translocation has led to a son with two der(14) or 14‐X chromosomes. The normal X chromosome is late replicating in the mother. One of the two 14‐X Chromosomes is late replicating in the son, with heavy terminal labeling of all but the centromeric end of the chromosome. This suggests that genetic inactivation has spread from the Xq segment of the translocation chromosome to at least two thirds of the segment derived from chromosome 14, and that the remaining proximal segment of chromosome 14 is possibly still genetically active. These findings provide an explanation for the phenotype: Klinefelter syndrome plus a few mild malformations that are sometimes seen in this syndrome but are also seen in duplication of the proximal portion of chromosome 14. Although the proband has a duplication of virtually an entire chromosome 14, 14(pter→q32), the phenotypic effect of the autosomal duplication has been mostly nullified by the spread of inactivation.
Genetic aspects of the BOR syndrome—branchial fistulas, ear pits, hearing loss, and renal anomalies
Authors: Fraser F. Clarke , Ling Daniel , Clogg Donald , Nogrady Bernadette , Gorlin Robert J.
Published: June 2005

A pedigree of branchio‐oto‐renal dysplasia (the BOR syndrome) is reported, including the documentation by serial audiometric studies of the onset and rapid progression of hearing loss in the twin sister of an affected child. The literature on this syndrome is analyzed to derive some figures for use in genetic counseling of such families.

Branchio‐oto‐renal dysplasia is an autosomal dominant disorder in which affected individuals may have preauricular pits, lachrymal duct stenosis, hearing loss, branchial fistulas or cysts, structural defects of the outer, middle, and inner ear, and renal anomalies, which may range from mild hypoplasia to complete absence. Not all features of the syndrome are expressed in all carriers of the gene, but few carriers lack all the features, and the pits, branchial clefts, and hearing loss, are frequently expressed. Those offspring of affected persons who have pits or fistulas are likely (about 80%) to have hearing loss of varying degrees of severity. A minority of heterozygotes (about 7%) may have hearing loss without pits or fistulas. The risk of severe renal malformation is probably fairly low. Whether families that show dominant inheritance of pits, clefts, and deafness without renal anomalies represent variants of the BOR syndrome or a separate entity (the BO syndrome), is still not clear. At present, any individual with preauricular pits and branchial clefts deserves both otologic and renal investigation.
Mental retardation and osteosclerosis
Authors: Hunter Alasdair G. W. , Macpherson Roderick I. , Opitz John M.
Published: June 2005

We report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features.
The X‐linked syndrome of macroorchidism and mental retardation: Further observations
Authors: Bowen Peter , Biederman Brian , Swallow Kathleen A. , Opitz John M.
Published: June 2005

We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X‐linked, or possibly autosomal dominant male‐limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood‐group typing were uninformative for the purpose of linkage analysis.
Autosomal dominant inheritance of scalp defects with ectrodactyly
Authors: Bonafede R. P. , Beighton P.
Published: June 2005

Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.
The G syndrome: A case report
Authors: Greenberg Cheryl Rockman , Schraufnagel Dean , Optiz John M.
Published: June 2005

A case of the G syndrome is reported in a baby boy who had an unusual facies (prominent forehead, telecanthus, posteriorly rotated ears, and anteverted nostrils), laryngeal cleft, hypospadias, cryptorchidism, and psychomotor development delay, possibly secondary to birth asphyxia and numerous medical and surgical complications. The mother had a similar facies.
Finite sample properties of maximum likelihood estimates of the recombination fraction in double backcross matings in man
Authors: Bolling David R. , Murphy Edmond A. , Elston Robert C.
Published: June 2005

The properties of the maximum likelihood estimator (MLE) of the recombination fraction, Θ, based on various numbers and sizes of sibships derived from double backcross matings are exactly explored where the coupling phases are presumed equally likely (which for two‐generation data is generally the case). The results indicate that for large values of Θ the expectations are severely biased. The bias, variance, and measures of normality of the MLE behave erratically for small sizes and numbers of sibships.

The implications for chromosome mapping are discussed.
Reproductive risk of t(13q14q) carriers: Case report and review
Authors: Harris David J. , Hankins Lana , Begleiter Michael L. , Stene Jon , Hoehn Holger
Published: June 2005

We report a four‐generation kindred with a balanced 13q 14q Robertsonian translocation. The proband had the Down syndrome, due to trisomy of chromosome 21; he also carried the balanced D‐group translocation. A segregation analysis of 86 sibships was performed to examine the risk of t(13q 14q) carrier parents having trisomy 21, 47, XXY, or trisomy 13 children by which a number of families were ascertained. None of these disorders recurred after birth of the propositi. The frequency of abortions was not different from that of the general population. The conditional segregation ratio for balanced translocation carriers among the phenotypically normal offspring of carrier parents was 0.55 ± 0.04.
Duplication 6q syndrome
Authors: Tipton Robert E. , Berns Jeffrey S. , Johnson Walter E. , Wilroy Robert S. , Summitt Robert L. , Lubs Herbert A.
Published: June 2005

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21) mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of hromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, “carp” mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.
Gerodermia osteodysplastica hereditaria: Report of three affected brothers and literature review
Authors: Lisker Rubén , Hernández Andrés , Martínez‐Lavin Manuel , Mutchinick Osvaldo , Armas Cristina , Reyes Pedro , Robles‐Gil Javier , Optiz John M.
Published: June 2005

Gerodermia osteodysplastica hereditaria was diagnosed in three Mexican brothers 6, 7, and 8 years old, respectively, who had the distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocelusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoporosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips.

Three other families with a total of 14 affected individuals have been reported. Inter‐ and intrafamilial variability can be recognized, particularly regarding the tendency to fractures, upper: lower segment ratio abnormalities, and results of skin biopsies, which have shown fragmentation of the elastic fibers in some cases (including the present family) and not in others.

Although inheritance was considered to be X‐linked recessive in the first reported family, an analysis of that pedigree together with those of the other reported families, including the present one, suggests that gerodermia osteodrysplastica is inherited in an autosomal recessive manner.