bluuebunny/crossref_metadata_2025 huggingface dataset:
Prediction of body fat content in an inuit community
Authors: Rode Andris , Shephard Roy J.
Published: June 2005

The age‐ and sex‐specific generic predictions of body density, and thus body fat content, as obtained by the skinfold equations of Durnin and Womersley (1974, Br J Nutr 32:77–97) have been compared with direct hydrostatic estimates of body density in a sample of 51 moderately acculturated Canadian Inuit men, ages 18–36 years. In general, the Durnin and Womersley equations indicate somewhat too high a body density and thus too low a percentage of body fat relative to the hydrostatic data; the error amounts to 1–3% body fat, depending on the age and the skinfold thicknesses of the subject. Possible explanations of the discrepancy include (1) a low bone density, (2) a high muscle/bone mass ratio, or (3) a high ratio of internal to superficial body fat. Specific rather than generic equations would seem necessary for the accurate prediction of body fat content from skinfold readings in the Inuit, although continuing acculturation to a sedentary lifestyle currently hampers the development of generalizable equations for this population. © 1994 Wiley‐Liss, Inc.
Skeletal differences between black and white men and their relevance to body composition estimates
Authors: Gerace Laura , Aliprantis Antonios , Russell Mary , Allison David B. , Buhl Kathleen M. , Wang Jack , Wang Zi‐Mian , Pierson Richard N. , Heymsfield Steven B.
Published: June 2005

Skeletal differences exist between closely matched Black and White women, although it is unknown if similar differences also exist between Black and White men after controlling for age, body weight, and stature. The aim of this study was twofold: to test the hypothesis that Black men have greater bone mass, higher bone mineral density, and longer limbs compared to White men of similar age, weight, and height; and second, to establish if ethnic variation in skeletal characteristics has an impact on the models upon which three widely used methods for estimating total body fat are based. Twenty‐four healthy Black men were matched by age (±5 years), height (±3 cm), and weight (±2 kg) to 24 healthy White men. Skeletal characteristics and body composition were studied using anatomical and compartment estimates derived by anthropometry, 3H2O dilution, hydrodensitometry, whole‐body 40K counting, and dual photon systems. Black men had greater bone mineral mass (P = 0.007), higher bone density (P = 0.054), longer femurs (P = 0.002), longer anthropometric arm and thigh lengths (P = 0.001 and P = 0.002, respectively), lower spine to femur ratio (P = 0.004), and similar spine length (P = 0.271) compared to White men. Total body fat and fat‐free body mass (FFM) were estimated in the men using a four‐compartment model. Black and White men had similar total body fat, K (TBK), water (TBW), and FFM. Density of FFM and TBK/FFM were also similar between Black and White men, suggesting that current two‐compartment hydrodensitometry and TBK models for estimating fat may not require adjustments for ethnicity. The TBW/FFM ratio, which is the main assumed steady‐state relation for the two‐compartment TBW method of estimating fat, was modestly increased (P = 0.05) in Black men (x̄ ± SD, 0.744 ± 0.018) compared to White men (0.732 ± 0.021). These results confirm that Black and White men differ significantly in some skeletal characteristics and these differences have implications in the study of both osteoporosis and human body composition. © 1994 Wiley‐Liss, Inc.
Heredity, nutrition, and craniofacial differentiation in weanling rats: A multivariate analysis
Authors: Oyhenart Evelia E. , Sobrero Maria S. , Pucciarelli Hector M.
Published: June 2005

The effects of paternal heredity, congenital variation, and preweaning nutrition on craniofacial growth were studied on weanling Wistar (W), Holtzman (H), and their reciprocal crosses, W/H and H/W, male rats. Between‐group Mahalanobis D2 distances were calculated from the measurements made on lateral and vertical X‐rays. Preweaning nutrition evoked the largest cranial differences, and paternal heredity the lowest; the effect of congenital variation was intermediate between these extremes. It is concluded that “strain” differences actually are the result of the complex interplay among congenital and lactational factors that can modify the genetic effect due to strain. © 1994 Wiley‐Liss, Inc.
Correlates of low serum lipid levels among the Evenki herders of Siberia
Authors: Leonard William R. , Crawford Michael H. , Comuzzie Anthony G. , Sukernik Rem I.
Published: June 2005

This study examines serum lipid levels (total, HDL and LDL cholesterol, and triglycerides) among the Evenki reindeer herders of Central Siberia. Cholesterol and triglyceride levels among the Evenki are low, even relative to other indigenous arctic and herding populations. Total and LDL cholesterol levels are higher in women, while HDL and triglyceride levels are comparable between the sexes. Additionally, residence location (i.e., herding brigade vs. central villages) has a significant influence on men's but not women's total and LDL cholesterol levels. Low lipid levels among the Evenki appear to reflect the maintenance of a traditional lifestyle with high levels of energy expenditure and relatively low levels of fat consumption. Sex differences in lipid levels may be partly attributable to differences in activity patterns, as women have significantly lower levels of energy expenditure than men. © 1994 Wiley‐Liss, Inc.
Growth and nutritional status of the Evenki reindeer herders of Siberia
Authors: Leonard William R. , Katzmarzyk PT , Comuzzie Anthony G. , Crawford Michael H. , Sukernik Rem I.
Published: June 2005

This study examines physical growth and nutritional status in a sample of 478 (247 males; 231 females) Evenki herders of Central Siberia. The Evenki display slow growth in stature and body weight, particularly during late childhood and adolescence. Adult males fall below the U.S. 5th percentiles for both stature and body weight. Adult females are below the 5th percentile for stature and approximate the 15th percentile for weight. Despite their diminutive size, the Evenki appear to have adequate energy reserves, as indicated by their skinfold measurements, which range between the U.S. 15th and 50th percentiles. Among adults, women are relatively heavier and fatter than men and tend to increase in weight and fatness with age. Poor growth in the Evenki does not appear to be directly attributable to limited food availability. Rather, it is hypothesized that elevated metabolic requirements, associated with adaptation to a high latitude ecosystem, are responsible for limiting the amount of energy that is allocated to growth. Relatively high levels of adiposity in adult females appear to be the product of changes in activity patterns and fertility levels that resulted after the collectivization of the Evenki. © 1994 Wiley‐Liss, Inc.
Ethnicity and familial factors in the etiology of acute appendicitis
Authors: Shamis Igor , Livshits Gregory , Feldman Uliana
Published: June 2005

The role of various socioeconomic, ethnic, and family factors in the development of acute appendicitis (AA) was studied in two generational groups totaling 2,331 individuals. Univariate analyses revealed that ethnicity, residence, family history, and education are associated with AA. However, only two, ethnicity and education, were retained following multiple forward, stepwise logistic regression. Caucasians, in contrast to Mongoloids and Uzbeks and those with high education showed significantly higher probabilities of undergoing an appendectomy. Odds ratios comparing Caucasians to Uzbeks and low education to high education were 1.6 and 0.7, respectively. Results confirm an association of higher AA frequency with higher socioeconomic status but do not explain the ethnic differences in the incidence of AA. Examination of aggregation of AA in 782 families indicates a familial factor in predisposition. Although this analysis suggests that genetic factors contribute significantly to the development of AA, only segregation analysis will allow more definitive conclusions. © 1994 Wiley‐Liss, Inc.
Suckling patterns: Lack of concordance between maternal recall and observational data
Authors: Vitzthum Virginia J.
Published: June 2005

During the last decade, an increased awareness of the importance of breastfeeding patterns in determining maternal fecundity and infant health has led to a dramatic rise in surveys that query mothers on suckling duration and frequency. However, with few exceptions, observational studies have not been undertaken, and the accuracy of the recalled information is not known. This analysis ascertained the concordance of maternal recall and observational data collected for a single sample of Andean women practicing on‐demand nursing. Interviews of 30 women were conducted in their native language; for 10 mother‐infant pairs, breastfeeding behavior was precisely timed during the course of normal daily activities for a total of 86 hours. There is virtually no agreement of recall and observational data, either for each individual or for sample statistics. Rounding is the rule; suckling duration is reported in 5‐minute units when, in fact, women often nurse for only 2–3 minutes. Overestimation is also very common; suckling durations of 30 minutes are frequently reported but almost never observed. These reporting patterns obscure the considerable actual variation in suckling duration—exposed by observation—and bring into serious question the conclusions of studies based on mothers' recall. In particular, given that analyses of these observational data indicate otherwise, the claim that suckling duration is unimportant in the regulation of maternal fecundity should be re‐examined. Further, the design, implementation, and evaluation of breastfeeding promotional programs intended to increase child spacing requires data of greater accuracy than that obtainable from maternal recall. © 1994 Wiley‐Liss, Inc.
Upper limit of fat‐free mass in humans: A study on Japanese Sumo wrestlers
Authors: Kondo Masakatsu , Abe Takashi , Ikegawa Shigeki , Kawakami Yasuo , Fukunaga Tetsuo
Published: June 2005

If limitations exist in skeletal dimensions, fat‐free mass (FFM) might have an upper limit. To explore the upper limit to FFM, 37 professional Japanese Sumo wrestlers, 14 highly trained bodybuilders, and 26 untrained men were investigated for body composition (fat mass and FFM) and cross‐sectional areas (CSA) of limb muscles, by hydrodensitometry and ultrasound, respectively. Mean % fat of Sumo wrestlers, bodybuilders, and untrained subjects were, respectively, 26.1%, 10.9%, and 12.1%. Sumo wrestlers had a significantly greater FFM than bodybuilders, who had a greater FFM than the untrained men. Six of the wrestlers had more than 100 kg of FFM, including the largest one of 121.3 kg (stature: 186 cm, mass: 181 kg, %fat: 33.0%). The FFM/stature ratio of elite Sumo wrestlers averaged at 0.61 kg/cm, with the highest 0.66 kg/cm. It is suggested that a FFM/stature ratio of 0.7 kg/cm may be an upper limit in humans. © 1994 Wiley‐Liss, Inc.
Body fat and muscle thickness in Japanese and Caucasian females
Authors: Ishida Y. , Kanehisa H. , Kondo M. , Fukunaga T. , Carroll JF , Pollock ML , Graves JE , Leggett SH
Published: June 2005

Fat and muscle thicknesses were measured at eight sites by B‐mode ultrasonography on 36 Japanese (age = 25.9 ± 1.9 years; mean ± SD) and 56 Caucasian females (25 ± 2 years) to compare the distribution of these tissues. The eight sites were the biceps, triceps, forearm, subscapular, abdomen, quadriceps, hamstring, and calf. Hydrostatically determined body density, corrected for residual lung volume, was similar (P > 0.05) for Japanese (1.048 ± 0.008 g · ml−1) and Caucasians (1.050 ± 0.009 g · ml−1). However, in part because of their greater body mass, Caucasians had significantly more (P < 0.05) fat mass (FM; 12.5 ± 3.2 kg) and fat‐free mass (FFM; 45.1 ± 5.1 kg) compared to the Japanese (FM = 11.1 ± 2.3 kg, FFM = 38.0 ± 3.5 kg). From the results of a subsample analysis of a group matched for stature and body mass, Japanese women had a greater abdominal fat thickness than Caucasians, but had less fat thickness at the triceps and hamstring sites. Caucasians had greater muscle thicknesses than Japanese at all sites except for abdomen, hamstring, and calf. The ratio of fat thickness to FM · stature−2 was higher on the trunk (P < 0.001) in Japanese (6.650 ± 1.721 mm3 · g−1 × 103) than in Caucasians (4.713 ± 1.441 mm3 · g−1 × 103). The ratio of muscle thickness to FFM · stature2 was higher (P < 0.001) in Caucasians than in Japanese at the upper extremity and trunk sites. These results suggest that the distribution of subcutaneous fat might be specific to ethnic origin, and that Japanese women have less muscle development than Caucasians even when matched for stature and body mass. © 1994 Wiley‐Liss, Inc.
Bio‐impedance analysis for estimation of total body potassium, total body water, and fat‐free mass in white, black, and Asian adults
Authors: Wang Jack , Thornton John C. , Burastero Santiago , Heymsfield Steven B. , Pierson Richard N.
Published: June 2005

Bio‐impedance analysis (BIA) measurements have been used to predict components of body composition. Their validation is required for populations varying in race, sex, and age. In 371 Whites, 182 Blacks and 225 Asians, single‐frequency BIA at 50 kHz (RJL‐100) resistance and reactance measurements were correlated with same‐day measurements of total body water (TBW) by THO dilution, total body potassium (TBK) by whole body 40K counting, and fat‐free mass (FFM) by dual‐photon absorptiometry. BIA correlation coefficients with TBW, TBK, FFM, and fat varied by sex and race for all measured body composition components. The highest correlation was for FFM, and the lowest was for fat mass. Prediction equations were further improved by including age, stature, and weight for each of the study cohorts. The SEE for predictions were in the ranges of 5–6, 6–8, and 7–10% of measured FFM, TBW, and TBK, respectively. BIA was effective in predicting body composition when subjects are specified by age, sex, stature, weight, and race for subjects from 18 to 94 years of age. © 1995 Wiley‐Liss, Inc.
Usefulness of a stature‐based standard of skinfold thickness, especially for short children
Authors: Ohzeki Takehiko , Hanaki Keiichi , Ishitani Nobuo , Ohtahara Hiroko , Urashima Hirofumi , Tsukuda Toshinori , Nagaishi Jun‐Ichi , Shiraki Kazuo
Published: June 2005

Skinfold thicknessess (SFT) were measured at ulnar, triceps, subscapular and suprailiac sites in 730 boys and 724 girls (age 3–12 years) whose stature ranged from 100 to 150 cm and whose weight was within ±20% of the average. Means and standard deviation (SD) were calculated after logarithmic transformation of the original skinfold readings to demonstrate stature‐based standards of SFT in Japanese children. The means of SFT exhibited nadirs (boys/ girls: ulnar 5.1/5.9 mm, triceps 7.9/9.5 mm, subscapular 4.9/6.1 mm, suprailiac 4.5/6.2 mm) in subjects 110–115 cm tall except for ulnar SFT in girls. SFT values increased as children increased in stature. Standard deviations of SFT at the four sites in short children (staturte < mean −1 SD) were estimated using the stature‐based standard as well as an age‐based standard. Susms of the SDs assessed by the age‐based standard were significantly smaller than those assessed by the stature‐based standard in boys (P < 0.05) and girls (P < 0.01) with short stature, suggesting that SFT in short children was falsely understimated by the age‐based standard. Thus, the stature‐based standard is beneficial for the assessment of SFT, especially in children whose stature is below the mean −‐1 SD. © 1995 Wiley‐Liss, Inc.
Aging of metacarpal density at midshaft and proximal end
Authors: Kimura Kunihiko
Published: June 2005

Aging of bone density of the second metacarpal at midshaft (compact bone) and the proximal end (trabecular bone) was compared in 114 men and 115 women, 30–98 years of age. The microdensitometric (MD) pattern of the bone at both sites, area (Σ GS) and midheight (GSmid), were measured in standardized aluminun equivalents (SAE). In both sexes, Σ GS and GSmid showed a greater deviation at the proximal end than at midshaft. There was a significant correlation between both sites for each parameter. Pattern area was significantly greater at the proximal end than at midshaft(P ⩽ 0.01), but the relation was reversed for GSmid. At both sites, Σ GS and GSmid decreased gradually with age in both sexes, especially after 69 years in women. Each parameter showed a significant negative linear regression with age at both sites in women and at midshaft in men. In both sexes, the slope of the regression curve of Σ GS with age was significantly steeper at the proximal end than at midshaft. In women, the estimated rate of decline was 0.90% and 0.56% for Σ GS, and 1.20% and 0.73% for GSmid per year at the proximal end and midshaft, respectively. The bone density loss with age may be slightly greater in trabecular than in compact bone. © 1995 Wiley‐Liss, Inc.
Sexual dimorphism in modern Japanese crania
Authors: İşcan Mehmet Yaşar , Yoshino Mineo , Kato S.
Published: June 2005

The Japanese population has gone through significant micro‐evolutionary changes during the last half century. One approach to quantify these changes is an osteometric analysis of sexual variation in the skeleton. The present study evaluates sexual dimorphism in modern Japanese cranial dimensions. Comprehensive osteometric data were obtained from 84 modern Japanese skeletons of known sex and age at death from the dissecting room collection at Jikei Medical University, Tokyo. The remains were macerated between 1960 and 1970 and thus are from individuals who lived through World War II. A total of 16 cranial dimensions were subjected to SPSS‐X discriminant function analysis. Using 11 measurements of the cranium, five dimensions were selected by the stepwise discriminant methods, including bigonial breadth. In a second stepwise function using 11 cranial measurements, seven contributed to the function. In both functions, mastoid height was selected first and prediction accuracy averaged 84%. Because of its significant contribution, a function was calculated from mastoid height alone. This produced an average of 74% prediction accuracy. In general, width dimensions better reflected differences between the sexes. The accuracy of correct classification from the Jikei sample was slightly lower than those of earlier Japanese populations. The results of this study also suggested that sexual dimorphism in Japanese crania may have decreased as a result of an increase in size of females. © 1995 Wiley‐Liss, Inc.
Age assessment of the Spitalfields cemetery population by rib phase analysis
Authors: Loth Susan R.
Published: June 2005

Accurate paleodemographic reconstruction depends in large part on the ability to estimate age at death from the skeleton. Thus, it is important to evaluate the reliability of standards utilized for this assessment. The rib phase technique has proven to be one of the most consistently reliable means of determining age in modern human adults. A recent study also demonstrated that this method can be applied to Neandertals because they exhibit the same pattern of age‐related change. However, the efficacy of the rib phases in aging archaeological populations of anatomically modern humans has not been systematically examined. Therefore, the purpose of this paper is to determine if ribs from the 16th to 18th century Spitalfields cemetery population (with church records of age at death) manifest a morphological aging pattern similar to that found in the recent specimens upon which the rib phase standards are based. Age was assessed on a sample of 87 individuals using only the sternal ends of the ribs without access to the rest of the skeleton or records of age and sex. Results indicated that Spitalfields ribs exhibit essentially the same aging patterns found in the ribs of modern Whites. Overall, the demographic profile generated from the ribs produced a good approximation of this sample in both range and distribution. Error was in the direction of underaging, and results for males were better than for females. The present findings indicate that the rib can be considered a reliable site for age estimation in archaeological populations. © 1995 Wiley‐Liss, Inc.
Sickle cell gene in Central India: Kinship and geography
Authors: Das M. K.
Published: June 2005

A wide range of variation (0.00–0.14) in the frequencies of the HbS allele has been observed among 16 tribes of Orissa, Madhya Pradesh, and Maharashtra. A significant excess of SS individuals over that expected under Hardy‐Weinberg equilibrium was observed among 6 of 16 populations. These populations belong to three linguistic groups and have history of heterogeneous origins. A geographical cline of increase in HbS allele frequency from east to west is apparent. This pattern can largely be explained by differential migration. The kinship coefficient (rij) and paired FST do not show any significant correleation up to 250 km of geographical distance but beyond this distance they show an inverse releationship with increasing geographic distance. Hemoglobin levels between individuals with βS allele and with normal HbA individuals do not differ in these. © 1995 Wiley‐Liss, Inc.
Precision of the one‐ versus two‐handed method of skinfold measurement in the obese
Authors: Pham Co Luong , Mueller William H. , Wear Mary L. , Emerson James B. , Hanis Craig L. , Schull William J.
Published: June 2005

Skinfolds at five anatomic sites were measured on 47 subjects in a study of gallbladder disease in Starr County, Texas, by two methods, one and two handed. A comparison was made of the two methods as to bias and precision. There were statistically significant but biologically unimportant differences (on the order of 1–2 mm) at four of the five sites. At three of these, the two‐handed method gave larger values (lower thigh, triceps, and subscapular), and at the other site (medial calf) this method produced smaller values on average. Measurement precision was improved using the two‐handed method at three of the five sites, significantly so for the triceps skinfold. Measuring skinfolds with two hands improves the precision of measurement for some skinfold sites in obese individuals. It does not introduce important and systematic biases across skinfold sites. Adoption of this technique should be used when circumstances outweigh the cost of involving an extra observer in the measurement of skinfold thickness, such as when precision is very important and when subjects are obese. © 1995 Wiley‐Liss, Inc.
Growth faltering and catch‐up growth in relation to environmental change in children of a disadvantaged community from Guatemala City
Authors: Johnston Francis E. , Macvean Robert B.
Published: June 2005

The extent and persistence of stunting and growth status across a 10‐year period, and their relationship to changes in the home environment, have been analyzed using data from a 10‐year longitudinal study of three birth cohorts, seen initially at 3, 5, and 7 years and examined annually thereafter. The children came from an economically disadvantaged community located on the periphery of Guatemala City. The sample used in the analysis consisted of 271 subjects with complete growth and SES data over a 10‐year period. Stunting was high initially, with 43.5% of the sample displaying USNCHS height z‐scores < −2.0 at the first examination. Growth status at the first visit was a significant predictor of status after 10 years. The odds ratio for stunting in adolescence if stunted in early childhood was 18.39. Characteristics of the household at the first visit were a significant determinant of height, weight, estimated arm muscle, the triceps skinfold, and the BMI at the last visit, after adjusting for confounding variables. Changes in household status between the first and last visits were associated with greater growth increments in height and weight but not in the BMI, triceps skinfold, or estimated arm muscle circumference. These analyses have demonstrated that improved growth status during adolescence relative to status 10 years earlier (a form of catch‐up growth) was attributable to two factors: first, for the sample as a whole there was a general improvement in growth status with a mean change in height‐and weight‐for‐age z‐scores of 0.218 and 0.420, respectively; second, the change in household score from first to last visit was a significant determinant of growth increment over that period, but only in the case of height and weight. Thus, while the early environment is a powerful determinant of later growth status, some catch‐up growth can be identified both as a general systemic response as well as a response to changing environmental conditions. © 1995 Wiley‐Liss, Inc.
Acromesomelic dwarfism: Manifestations in childhood
Authors: Langer Leonard O. , Beals Rodney K. , Solomon Irene L. , Bard Penny A. , Bard Leslie A. , Rissman Edward M. , Rogers John G. , Dorst John P. , Hall Judith G. , Sparkes Robert S. , Franken Edmund A. , Opitz J. M.
Published: June 2005

Acromesomelic dwarfism is a distinct condition characterized by short stature of the short limb type, with the hands and feet showing the most obvious deviations from normal. The forearm bones are usually disproportionately shorter than the other long tubular bones of the limbs. The intelligence is normal. Available data suggest autosomal recessive transmission. Characteristic clinical and radiographic features permit establishment of a confident diagnosis in the first year of life.
Intrauterine diagnosis of triploidy: The use of radiologic and ultrasonographic techniques in conjunction with amniocentesis
Authors: Bocian Maureen , Karp Laurence E. , Mohandas T. , Sarti Dennis , Lachman Ralph , Wisot Arthur , Opitz John M.
Published: June 2005

The frequency of triploid conceptuses in man is estimated to be approximately 1%; most are aborted during the first trimester. There are reports of 31 triploid fetuses which survived past the 24th week of gestation, including several infants born at term. We are unaware of a report of the prenatal diagnosis of triploidy.

A typical clinical syndrome has been delineated in nonmosaic triploid fetuses and infants, including intrauterine growth retardation, syndactyly, eye and ear abnormalities, hypogonadism in males, and hydatidiform placenta.

A 32‐year‐old primigravida presented with small uterine size at 16 weeks gestation. Subsequently the uterus grew very slowly. Ultrasound examination at 23 weeks revealed a fetal head size consistent with 20 weeks gestation and a thoracic diameter consistent with 14 weeks. Amniocentesis was done for karyotype analysis and α‐fetoprotein determination. Amniography showed a small fetus with obvious disproportion between head and trunk. Abortion was induced with prostaglandin. The fetus had features consistent with the triploidy syndrome, and the amniotic fluid cells were later found to have a 69,XXY karyotype. Chromosomal polymorphisms of the fetus and parents indicated that the supernumerary haploid set of chromosomes originated from failure of the second meiotic division in the mother.

This case illustrates the way in which the combined use of amniocentesis, ultrasonography, and radiographic techniques can be advantageous in prenatal diagnosis and genetic counseling, especially when the patient is relatively late in pregnancy so that it is necessary to obtain a rapid diagnosis.
A 59‐year‐old multiparous woman with acromesomelic dwarfism
Authors: Pallister Philip D. , Opitz John M.
Published: June 2005

Recently Langer et al [1] described the childhood manifestations of acromesomelic dwarfism. Their oldest patient was 35 years old; in their review, only one patient was married and had produced two normal children. Apparent gonadal dysfunction was noted in several patients. I report the oldest known patient with acromesomelic dwarfism; she had no gonadal dysfunction, was married, and had two normal sons.
The familial component in longevity—A study of offspring of nonagenarians: III. Intrafamilial studies
Authors: Abbott Margaret H. , Abbey Helen , Bolling David R. , Murphy Edmond A. , Opitz John M.
Published: June 2005

The effect of parental longevity on the length of survival of offspring has been examined according to selected demographic and environmental characteristics. The present study is based on 7,103 progeny, 20 years old or older. They were the sons and daughters of 1,766 men or women, 90 or more years old, who were alive in 1922–1930 at the time of ascertainment. The age at death of the other parent of the offspring is the basis of classification used in this analysis. A positive relationship was found between age at death of the non‐proband parent and the age at death of the offspring. This relationship existed regardless of similarities or differences in the characteristics analyzed.
X‐linked mental retardation: Transmission of the trait by an apparently unaffected male
Authors: Wolff Gerhard , Hameister Horst , Ropers Hans‐Hilger , Opitz John M.
Published: June 2005

A pedigree is presented in which an apparently unaffected man transmitted the gene for X‐linked mental retardation to at least four of his 12 daughters. None of his 12 sons was mentally retarded. These findings may be explained by a somatic mutation and germinal mosaicism in the father or by a half chromatid mutation in maternal gametes.
Autosomal dominant Fanconi syndrome with early renal failure
Authors: Friedman Aaron L. , Trygstad Carl W. , Chesney Russell W. , Opitz John M.
Published: June 2005

The “idiopathic” Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found.

Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal failure.
Genetics of acheiropodia (“the handless and footless families of Brazil”): X. Roentgenologic study
Authors: Freire‐maia Ademar , Laredo‐filho José , Freire‐maia Newton , Hall Judith G.
Published: June 2005

The main radiologic findings from four unrelated cases and two sibs with acheiropodia are presented and discussed. On the basis of such analysis, a clinical and radiologic description of the anomaly is given. The presence of one or more fingers and of a small bone (Bohomoletz bone) in the upper stumps is discussed. These unusual findings in bone structure were assumed to be due to a variability in the expression of the acheiropodia gene. Radiologic studies of some of the acheiropods' normal parents failed to reveal even mild manifestations of the gene in the heterozygous state. No recognizable pattern was found in the dermal ridges on the end of the acheiropods' upper or lower stumps.
The Johanson‐Blizzard syndrome: Case report and autopsy findings
Authors: Daentl Donna L. , Frías Jaime L. , Gilbert Enid F. , Opitz John M. , Kaye Celia
Published: June 2005

We report the case of a boy with the Johanson‐Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo‐cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.
Increased aneuploidy in Alzheimer disease
Authors: Ward Brian E. , Cook Robert H. , Robinson Arthur , Austin James H. , Summitt Robert L.
Published: June 2005

The purpose of this study was to determine if cytogenetic changes are present in Alzheimer disease, one of the presenile dementias. The chromosomes of three groups of people were studied: 1) sporadic cases fo Alzheimer disease (eight cases), 2) familial cases of Alzheimer disease with affected individuals in at least two generations of their families (five cases), and 3) currently unaffected siblings of the affected individuals in these families (nine cases). One hundred cells per individual were examined using GTG banding to allow chromosome identification.

A statistically significant increase in aneuploidy was found in five of eight patients in group 1 (P<0.05) and in each of five patients in group 2 (P<0.001) when compared with the rate of aneuploidy in age‐and sex‐matched controls. In addition, two individuals in group 3 exhibited a significant increase in aneuploidy over the control group, raising the possibility that finding increased aneuploidy may allow one to anticipate the clinical expression of the disease state.
Chylous ascites in sibs from a consanguineous marriage
Authors: Flores Samuel , Leungas Javier , Arredondo‐Vega F. , Guízar‐Vázquez J. , Optiz John M.
Published: June 2005

We report a brother and a sister with congenital chylous ascites. Parents were first cousins, and autosomal recessive inheritance may be the cause of the condition in these sibs.
An examination of the spectrum of anatomic defects and variations found in eight cases of trisomy 13
Authors: Pettersen James C. , Koltis Gordon G. , White Michael J. , Optiz John M.
Published: June 2005

We report the anatomic variations found in four additional cases of trisomy 13. Data from these and four previous cases [Colacino and Pettersen, 1978] are utilized to define a muscle phenotype. Previously unreported defects include the bilateral presence of cervical ribs and the bilateral absence of 12th thoracic ribs in five of the eight cases. One unusual developmental defect of the great vessels is also described. The findings suggest that a definitive diagnosis of trisomy 13 can be made on the basis of six muscle variations.
Frequency and characteristics of birth defects admissions to a pediatric hospital in Venezuela
Authors: Penchaszadeh Victor B. , Hall Judith G.
Published: June 2005

A survey of the 6,161 admissions to a pediatric hospital of Caracas during 1976 was conducted to determine the frequency and some characteristics of those admissions due to birth defects. The charts of all patients in whom a birth defect had been suspected or diagnosed during admission were reviewed and analyzed. These admissions numbered 629, that is 10.2% of the total, and were categorized as follows: 1) Birth defects of genetic origin: a) single gene – 3.2%; b) polygenic – multifactorial – 3.3%; c) chromosomal – 0.7%. 2) Birth defects due to an intrauterine insult – 0.1%. 3) Birth defects of unknown or heterogenous causes – 2.9%. The mean length of hospitalization was higher for birth defects patients than for all admissions: 15.6 and 11.6 days, respectively. There was no difference in mortality during admission between birth defects patients and all admissions, both being rather high, 8.2 and 8.3%, respectively.

The lower prevalence of birth defects observed in this study as compared with North American surveys is due to several factors, among which the most relevant is the persistent burden of environmental infectious and nutritional diseases in the pediatric age population in Venezuela. Nevertheless, it is thought that the foreseeable improvement in medical care organization and socioeconomic conditions of the population will lead to a relative rise in the morbidity and mortality due to birth defects in the near future, as was the case in developed nations. Thus it is necessary to develop medical genetics services in major hospital centers in order to provide present and future demands of genetic care.
Sib risks of anencephaly and spina bifida in British Columbia
Authors: McBride Mary L. , Murphy Edmond A.
Published: June 2005

The prevalence at birth of anencephaly or spina bifida cystica among sibs of individuals born in British Columbia with these defects was studied using routinely collected records of morbidity and mortality within the province. The population prevalence of these neural‐tube defects in British Columbia is approximately 1.55 per thousand births, lower than in other areas where family studies have been carried out. A total of 1,028 affected individuals born in British Columbia during the period 1952–1970 was ascertained from health and vital documents collected on an ongoing basis by the Division of Vital Statistics of the British Columbia Ministry of Health. Information on the families of these cases was acquired using computer‐linked groupings of British Columbia marriage, birth, and stillbirth records.

The risk of affected individuals among the sibs was 2.4%, about 15 times the population prevalence at birth. The prevalence among subsequent sibs of the first affected individual in a family was 2.1%. There was no difference in risk when various factors that influence the population incidence of these conditions were considered. The risk of recurrence of either of these anomalies after two previously affected sibs was 4.8%, or double the risk after one affected sib.

From these results and those of a recent New York survey of sib risks of neural‐tube anomalies it would seem that the risk of anencephaly and spina bifida cystica to sibs of affected cases in North America is approximately half the risk in Great Britain, and it is this lower risk of 2% that should be used for genetic counseling in North America.
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families
Authors: Liberfarb Ruth M. , Breg W. Roy , Atkins Leonard , Holmes Lewis B.
Published: June 2005

We have evaluated four individuals from two unrelated families with a similar multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial duplication of chromosome 1q and possible deletion 18p. In both families the mothers and several relatives were carriers of the balanced translocation rep t(1;18) (q42;p11).

The features which the four have in common are relative macrocephaly, prominent forehead, micrognathia, and highly arched palate; three of the four individuals have short stature, scoliosis, kyphosis, hirsutism, camptodactyly, sacral dimple, repaired inguinal hernias, and eye abnormalities.

Reproductive histories of five balanced translocation carriers in these families indicate that they have a high risk of spontaneous abortions and infants with multiple malformations.
Genetic counseling — the postcounseling period: I. Parents' perceptions of uncertainty
Authors: Lippman‐Hand A. , Fraser F. Clarke
Published: June 2005

To investigate how parents who have had genetic counseling perceive the problems created by being at risk, transcripts of open‐ended, semistructured follow‐up interviews with 53 counselees were analyzed qualitatively. Rate information, though recalled accurately by parents considering further childbearing, was discounted as impersonal, and subjects overwhelmingly perceived the chance of recurrence in binary form – it either will or will not happen. By processing rates this way, they simplified probabilistic information and shifted their focus to the implications of being at risk and the potential impact of that which might or might not occur. The many uncertainties they faced, the “consequences” of being at risk that parents felt had to be resolved during the decision‐making process, fell into 3 major categories: uncertainty that arose because of the ambiguous impact and meaning of having an affected child; uncertainty about how to make a choice and how others would view it, the burden of decision‐making; and uncertainty about their ability to fulfill their roles as parents. These issues were perceived as part of the problem to be resolved and were consolidated into “scenarios” in which the parents “tried out the worst.” This analysis of counselees' perceptions of the problems created by being at genetic risk suggests that parents may process the disparate facts of their situation in common ways that emphasize their uncertainty, and it indicates that how parents perceive factual information may be more important in orienting their deliberations than what these facts (diagnosis, prognosis, risks) actually are.
Genetic counseling — the postcounseling period: II. Making reproductive choices
Authors: Lippman‐Hand A. , Fraser F. Clarke
Published: June 2005

Qualitative analysis of transcripts of follow‐up interviews with 53 parents who had had genetic counseling was undertaken to characterize the process by which childbearing decisions were made and to determine how counselees resolved the problems created by being at risk. Although specific issues to be resolved varied with a parent's perception of his or her situation, all those who considered having subsequent children attempted to limit the uncertainties they faced and to neutralize those consequences perceived as most problematic. To do so, counselees uniformly inferred from factual information and experiences available to them how they could manage the possible consequences of taking a chance. Factors influencing a parent's ability to make a clear decision included the presence of a previous normal child, the diffusion of decision‐making responsibility to others, and recognition that one had already managed the worst. When these “facts” could not be processed to provide a sense of coping, parents either decided against reproduction and took appropriate action or made a “non‐decision” about reproduction by choosing to leave conception to chance. These various tactics allowed parents to create a “least‐lose” option in terms of their child‐bearing choices. This analysis of how parents make reproductive decisions, along with previous findings, suggests that being at risk both creates common problems and elicits common responses from counselees. Moreover, it highlights the importance of recognizing parents' perceptions of their situation to understand how their deliberations are structured and how factual information influences their ultimate choices.
Autosomal dominant atresia of the auditory canal and conductive deafness
Authors: Robinow Meinhard , Jahrsdoerfer Robert A.
Published: June 2005

We report autosomal dominant atresia and/or stenosis of the external auditory canal with or without conductive deafness. In the family described here the anomaly had occurred in 12 individuals in five generations. Penetrance was very high, expressivity quite variable. The clinical, audiometric, radiographic, and operative findings in three patients (grandfather, father, and son) are presented. This condition has been reported only once previously.
Prenatal diagnosis of congenital adrenal hyperplasia
Authors: Marcus E. S. , Holcombe J. H. , Tulchinsky D. , Rich R. R. , Riccardi V. M.
Published: June 2005

The accurate prenatal diagnosis of 21‐β‐hydroxylase deficiency, based on amniotic fluid levels of 17‐hydroxyprogesterone, is documented for a fetus 14½ weeks old. In addition, family HLA genotyping data are consistent with the purported linkage between the HLA locus and the locus for 21‐β‐hydroxylase.
Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family
Authors: De Pina Neto João Monteiro , Ferrari Iris
Published: June 2005

A case of partial 3p trisomy is reported here. A review of published cases (8 ♂, 2 ♀, 7 families) shows a characteristic pattern of anomalies, constituting one more syndrome of multiple congenital anomaly and mental retardation (MCA/MR) characterized by microcephaly, brachycephaly, frontal bossing, temporal indentation, square face, hypertelorism or telecanthus, epicanthus, short nose with a large tip, prominent cheeks, long and protruding philtrum, large and downturned mouth, protruding mid‐upper lip, micro‐ or retrognathia, short neck, congenital heart defects, gastrointestinal malformation, penile hypoplasia, neuromotor or mental retardation, and predominance of whorls on digits.

The proposita had a 46,XX,der(11),t(3;11)(p21;q25) karyotype. The mother was a carrier of a de novo 3;11 balanced translocation. Chromosome mosaicism was detected in a female sibling of the proposita: 46% of her cells were 46,XX and 54% had a 46,XX,t(3;20)(p21;q13) karyotype ‐ ie, a de novo 3;20 balanced translocation. We discuss the origin of this mosaicism and the possible meaning of the breaks involving the same region of chromosome 3 (region 3p21) in the members of the proposita's family.
Tryptophan and lysine metabolism in alpha‐aminoadipic aciduria
Authors: Fischer Milton H. , Brown Raymond R.
Published: June 2005

Two brothers previously diagnosed as having α‐aminoadipic aciduria (α‐AA) were subjected to a tryptophan loading test to determine if their condition resulted from a defect in the α‐aminoadipate aminotransferase (kynurenine amino‐transferase) system. Normal increases in kynurenic and xanthurenic acids eliminated this possibility. Further analyses of their urines revealed that both boys had measurable amounts of previously undetected α‐ketoadipic acid (α‐KA) before and after the loading test. A reexamination of specimens from a prelysine and postlysine loading test reconfirmed the existence of α‐KA in their urines at the time the original observation of α‐AA was made. The response to the lysine load was a predictable increase in both α‐AA and α‐KA. The boy who had been referred to this institution with a learning defect responded to the tryptophan load with a slight decrease in α‐AA and an unpredicted decrease in α‐KA and 3‐hydroxykynurenine. His mentally normal brother showed a significant decrease in α‐AA and major increases in all other measured metabolites including α‐KA. The latter results were compatible with a defect in the oxidative decarboxylation of α‐KA. A comparison of the urinary α‐AA and α‐KA concentrations in our subjects with comparable data in mentally normal and mentally retarded patients with this condition suggested that the retardation may result from other causes.
Deletion of a portion of the long arm of chromosome 6
Authors: Goldberg Rosalie , Fish Bernard , Ship Arthur , Shprintzen Robert J.
Published: June 2005

We describe a 3‐year‐old male with deletion of part of 6q. The karyotype was 46,XY,del(6q) in both lymphocytes and skin fibroblasts. The patient had: frontal bossing, epicanthal folds, broad nasal bridge, apparently low‐set and posteriorly angulated ears, micrognathia, cardiac defects, cleft palate, unusual digital anomalies, developmental retardation, and obstructive sleep apnea.
The van der Woude syndrome in a large kindred: Variability, penetrance, genetic risks
Authors: Janku Patricia , Robinow Meinhard , Kelly Thaddeus , Bralley Ralph , Baynes Alice , Edgerton Milton T. , Opitz John M.
Published: June 2005

The van der Woude syndrome was studied in a seven‐generation kindred. Lip pits were the most common manifestation of affected persons. They occurred in 88% of the affected and were the only manifestations in 64%; clefts of lip and palate occurred in 21%. Penetrance was 96.7%. careful examination showed minor manifestations of the syndrome in several individuals who had considered themselves unaffected. The distribution of manifestations and the risk to offspring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.