bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human T‐lymphotropic virus type I: A retrovirus causing chronic myeloneuropathies in tropical and temperate climates
Authors: Rodgers‐Johnson P. E. B. , Garruto R. M. , Yanagihara R. , Gajdusek D. C. 
Published: June 2005

AbstractHuman T‐cell lymphotropic virus type I (HTLV‐I), the first human retrovirus to be isolated, is the cause of endemic tropical spastic paraparesis (TSP). Originally, this chronic neurological disorder was described as a disease seen among blacks of low socioeconomic status living in tropical countries, and thus for many decades TSP remained a little known curiosity outside the endemic regions. The link between HTLV‐I infection and TSP was made fortuitously, when antibodies to HTLV‐I were found in serum and cerebrospinal fluid of TSP patients in Jamaica, Colombia, and Martinique. Soon thereafter a similar disorder, designated HTLV‐I associated myelopathy (HAM), was reported from southern Japan. This broadened the geographic and ethnic boundaries of this chronic myelopathy and the disease has now been reported in multiple ethnic groups from more than 40 countries, in both tropical and temperate regions. The name TSP/HAM is now used to include all patients (regardless of race or country of origin) who have HTLV‐I‐positive endemic TSP or HAM.
Estimation of body fat from skinfold thicknesses in middle‐aged and older men and women: A multiple component approach
Authors: Williams Daniel P. , Going Scott B. , Lohman Timothy G. , Hewitt Michael J. , Haber Ann E. 
Published: June 2005

AbstractThe relationship of skinfold thicknesses and body density to body fatness was assessed, and skinfold prediction equations were developed for the estimation of body fatness determined from measures of body density, total body water, and bone mineral in a sample of 91 males and 116 females aged 34–84 years. For a given skinfold thickness, adjustment for individual deviations in the water and bone mineral fractions of the fat‐free body assumed constant by traditional body composition models resulted in absolute reductions in overstimates of body fatness from 4.5 to 1.9% in females and from 2.8 to 1.7% in males for every 15 year increase in age. Percentage fat from density, water, and bone was estimated from skinfold thicknesses with SEEs of 2.9% in males and 3.8% in females. When compared to percentage fat from our multicomponent‐derived criterion, percentage fat from body density and a two‐component model resulted in individual errors ranging from underestimates of 5.6% fat to overestimates of 14.0% fat. The multicomponent prediction equations presented herein should produce more valid estimates of body composition in middle‐aged and older men and women than equations based on two‐component models. © 1992 Wiley‐Liss, Inc.
An inverse relationship between the cost of static posture and the cost of cycling?
Authors: Murray Martyn G. , Narasimh́a Maithreyi , Murgatroyd P. R. , Prentice A. M. 
Published: June 2005

AbstractTo test the hypothesis that both species and individuals with low metabolic costs in locomotion have high energetic costs in maintaining static posture (and vice versa), energy expenditure was measured in men engaged in different activities. Subjects were asked to exercise on a cycle ergometer at different speeds at constant work rates and to maintain a set isometric tension when sitting using different angles of the knee. Individuals with a low energy cost of sitting (minus BMR) had a high energy cost of cycling at 50 rev/min at an external work rate of 25 W (minus energy cost in a sitting position on the cycle). However, there was no significant correlation between the energy cost during a dynamic cycling task and the energy cost during maintenance of a standardized static posture. These findings suggest that mechanisms involved in the conservation of energy expended during cycling may be different from those involved during maintenance of standardized static postures. Curves relating energy expenditure to speed (for a constant work rate) were remarkably flat in the range 20–70 rev/min, indicating a difference in the way energy is conserved in cycling and within gaits. © 1992 Wiley‐Liss, Inc.
Maximal oxygen consumption of Colombian women of differing socioeconomic status
Authors: Spurr G. B. , Reina J. C. , Narvaez J. V. , Dufour D. L. 
Published: June 2005

AbstractMaximal oxygen consumption (\documentclass{article}\pagestyle{empty}\begin{document}$ {\rm \dot V}_{{\rm O}_2 } $\end{document} max) was measured directly by a treadmill protocol in 23 upper (UEC) and 23 lower (LEC) socioeconomic women, 19–37 years of age, living in Cali, Colombia. There were no statistically significant differences between the two groups in \documentclass{article}\pagestyle{empty}\begin{document}$ {\rm \dot V}_{{\rm O}_2 } $\end{document} max (liters/min). LEC women were shorter and weighed less than UEC subjects, although there was no evidence of undernutrition in the former at the time of testing. The aerobic power of the LEC group was 33.7 ± 4.1 ml/kg · min (mean ± SD) compared to 32.0 ± 2.8 ml/kg · min in UEC women (P = 0.09). From data on 36 of the women, a multiple stepwise regression was used to derive an empirical equation for estimating \documentclass{article}\pagestyle{empty}\begin{document}$ {\rm \dot V}_{{\rm O}_2 } $\end{document} max from submaximal \documentclass{article}\pagestyle{empty}\begin{document}$ {\rm \dot V}_{{\rm O}_2 } $\end{document} and heart rate plus anthropometric variables. The derived equation was verified by application to an independent group of 10 subjects. © 1992 Wiley‐Liss, Inc.
Self‐assessment and physician assessment of sexual maturation in Brazilian boys and girls: Concordance and reproducibility
Authors: Matsudo Sandra Marcela Maheca , Matsudo Victor Keihan Rodrigues 
Published: June 2005

AbstractThis study considered the concordance of self‐assessment and physician assessment of sexual maturity status; breasts, and pubic hair in girls, and genitals and pubic hair in boys. The subjects were Brazilian children, youth and young adults, 174 females and 178 males, 6–26 years of age. Each subject evaluated his/her level of sexual maturation and then was examined by a physician. The sexual maturity ratings of the subjects and physicians were compared. Overall, the results showed moderate to high concordance (60.9–71.3%) for both assessments of secondary sex characteristics; better concordance was found for pubic hair (69.7–71.3%) than for the breasts or genitals (60%). Age did not appear to influence the accuracy of self‐evaluation; rather, accuracy was more dependent on stage of maturation of the subject. Correlations between self‐ and physician assessments, and replicate self‐ and physician assessments were relatively high. © 1994 Wiley‐Liss, Inc.
Relationship between subcutaneous fat distribution and serum lipids and blood pressures in italian men
Authors: Folin Marcella , Contiero Eva 
Published: June 2005

AbstractThe associations of an index of centripetal adipose tissue distribution, based on skinfold thicknesses, with levels of triglycerides, total cholesterol, HDL‐cholesterol, LDL‐cholesterol, blood pressures, and the body mass index (BMI) were analyzed in 197 male blood donors, 20–59 years of age, who were asymptomatic of diabetes and cardiovascular disease. Serum lipid variables were correlated with the BMI independently of the index of centripetal adipose tissue distribution. After adjustment for age, only triglyceride levels were positively correlated with the index of centripetal subcutaneous fat distribution irrespective of the BMI. Thus in the population studied, subcutaneous fat distribution appears to be a weak correlate of cardiovascular disease risk factors, except for triglycerides. © 1994 Wiley‐Liss, Inc.
Khmers of Cambodia: A comparative genetic study of the populations of Southeast Asia
Authors: Papiha S. S. , Mastana S. S. , Singh N. , Roberts D. F. 
Published: June 2005

AbstractA sample of the Khmer population from Cambodia has been examined for 30 single‐gene characters (10 blood groups and 20 serum and red cell systems). A locus‐by‐locus comparison suggests that the Khmers differ significantly in several systems from the populations of Eastern India and China. There is remarkable heterogeneity among their geographical neighbors. To elucidate the genetic relationship of the Khmer, genetic data were collected from various published and unpublished sources, and different multivariate analyses were performed. The analyses show that the Khmers definitely show closer affinity for the neighboring populations of Thailand and Malaysia. The Chinese population not only shows a close relationship to the Khmers, but also consistently stays close to the populations of the Southeast Asian peninsula. The present‐day Khmers are genetically distant from the population of Eastern India, but the analyses do not totally exclude gene flow from Eastern India. It is, therefore, concluded that the original gene pool of Khmers may have derived from China, being modified by mixing with the local and Indian migrant populations. © 1994 Wiley‐Liss, Inc.
Anatomical analysis of the developmental effects of aneuploidy in man—the 18‐trisomy syndrome: I. Anomalies of the head and neck
Authors: Bersu Edward T. , Ramirez‐Castro Jose L. , Pettersen James C. 
Published: June 2005

AbstractThis paper describes the anatomical variations observed in the head and neck in eight infants with the 18‐trisomy syndrome that were dissected and studied in detail. Of the usual muscles of facial expression, occipitofrontalis and the auricular and nasal muscles were hypoplastic in all eight bodies and each subject showed extensive fusion of the muscles around the corner of the mouth. In each body there was a supernumerary muscle band that extended from the region near the corner of the mouth to the occipital attachment of trapezius. The otomandibular region in each body showed a variable spectrum of muscular, skeletal, arterial, and salivary gland variations bilaterally. Three of the bodies had infrahyoid muscle variations. The sum of these observations provides a more complete delineation of the variations that occur in the 18‐trisomy syndrome.Tentative pathogenetic hypotheses for several of the defects are discussed, based on observations from human descriptive embryology. Poswillo's teratological model [1973] implicating hemorrhaging as a causal mechanism in human first and second branchial arch malformations is suggested as a possible mechanism to explain the bilateral otomandibular defects.
The association of Waardenburg syndrome and Hirschsprung megacolon
Authors: Omenn Gilbert S. , McKusick Victor A. , Gorlin Robert J. 
Published: June 2005

AbstractWe describe four patients with Waardenburg syndrome and Hirschsprung aganglionic megacolon. In view of pathophysiologic relationships and animal studies, we conclude that the association of these two uncommon disorders is pathophysiologically significant.
Anatomical abnormalities in mandibulofacial dysostosis
Authors: Herring Susan W. , Rowlatt Ursula F. , Pruzansky Samuel , Optiz John M. 
Published: June 2005

AbstractA detailed dissection of the head and neck of a 7‐month‐old boy with mandibulofacial dysostosis is described and compared with other reported cases. A general growth retardation was found in the bones of the basicranium and calvaria as well as the face. The base of the skull was kyphotic, and the elements derived from the branchial arches articulated with the basicranium more anteriorly than usual. Certain middle ear structures were found to be extracranial. The facial muscles were generally normal except for the absence of elevators of the upper lip. The laryngeal cartilages were shortened anteroposteriorly, resulting in drastic reduction of the rima glottidis. The attachments of the masticatory muscles to the mandible suggested that the area of the temporomandibular joint had not completed normal differentiation, and that that part of the mandible which functioned as a condyle was actually an ossification around Meckel's cartilage. There was no infraorbital foramen, and the infraorbital neurovascular bundle was distributed instead to the palate. Clinical and functional correlations of the various defects are considered.Theories of pathogenesis are discussed on the basis of these findings. It is argued that these observations could be accounted for by an altered intercellular matrix with separate effects on skeletal growth and neural crest cell migration.
The Bowen‐Conradi syndrome—a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities
Authors: Hunter Alasdair G. W. , Woerner Sarah J. , Montalvo‐Hicks Lucy D. C. , Fowlow S. Beatrice , Haslam Robert H. A. , Metcalf Peter J. , Lowry R. Brian , Optiz John M. 
Published: June 2005

AbstractThis paper describes six Hutterite children form five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include proportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker‐bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen‐Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.
A short history of human genetics in the USA
Authors: Reed Sheldon C. 
Published: June 2005

AbstractThe practicing physician discovered human genetics primarily as a result of two events. The use of the atomic bomb generated a vast amount of attention because of the fear of genetic hazards of radiation. Next, the discovery that the Down syndrome resulted from the presence of an extra chromosome finally focused the vision of the medical profession on human genetics as an area of importance in disease. It was also necessary that the erroneous fatalism about the impossibility of treating genetic disease had to diminish before medicine would find human genetics attractive for research in therapeutic techniques.All of these things have come to pass and human genetics cannot help but enjoy a distinguished and extremely useful future.
Aprosencephaly‐atelencephaly and the aprosencephaly (XK) syndrome
Authors: Lurie Iosif W. , Nedzved Michael K. , Lazjuk Gennady I. , Kirillova Irena A. , Cherstvoy Eugeny D. , Optiz John M. 
Published: June 2005

AbstractWe report on a postnatally dead, postterm male infant with aprosencephaly and the oculofacial manifestations usually seen in the most severe form of alobar holoprosencephaly – namely cyclopia and absence of derivatives of the frontonasal process; in addition the infant had the radius aplasia field defect bilaterally, a high VSD, mobile cecum, and penile hypospadias with cryptorchidism. The same syndrome was reported recently by Garcia and Duncan [2]; however, in that case the brain defect was designated “atelencephaly.” Since atelencephaly is a less severe form of aprosencephaly we chose to designate the condition in these two patients as “the aprosencephaly (XK) syndrome.” Atelencephaly and aprosencephaly may occur also as a single and sporadic malformation. The cause of the aprosencephaly (XK) syndrome is unknown.
Cleft lip±cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968
Authors: Melnick Michael , Bixler David , Fogh‐Andersen P. , Conneally P. Michael , Elston Robert C. 
Published: June 2005

AbstractIn recent years there has been some controversy over the analytical designs and the meaning of varying results with regard to studies of facial clefting and other common congenital malformations. Regardless, it is still unclear as to the nature of the genetic and environmental components of the etiology as well as the nature of the relevant pathogenetic mechanisms. Despite claims to the contrary, the predictions of a particular multifactorial/threshold inheritance (MF/T) model delineated by Carter [1977d] and others are not well supported by studies worldwide. The present study population consists of 1,895 persons born in Denmark with cleft lip with or without cleft palate (CL ± P) between 1941 and 1968. A test of the MF/T predictions revealed the following: 1) the incidence of CL ± P in siblings was 40 × greater than that in the general population 2) the risk to siblings of CL ± P females was not significantly different from the risk to siblings of CL ± P males; 3) recurrence risk for siblings of CL ± P probands was dependent upon the proband's cleft type; 4) only 0.4% of the variation in risk to the siblings born after the proband could be accounted for by the number of previously affected siblings; 5) the consanguinity rate was 6 times less than the general population rate; 6) heritability estimates from siblings and parents by sex suggest, either the presence of significant dominance effects, or a common sibling environment component in the etiology of the disorder. Further, testing with a multiple‐sex threshold method, designed and provided us by [Kidd and Spence, 1976] revealed that neither the MF/T nor single‐major locus with random environmental variation provided a good fit. In light of recent experimental mouse and human data, an alternative model of monogenic‐dependent susceptibility to a variety of teratogens is discussed. It is suggested that the genetic basis for diverse kinds of common and uncommon congenital malformations may very well be homogeneous while, at the same, the evironmental basis is heterogeneous.
Pathologic findings in the Wolf‐Hirschhorn (4p‐) syndrome
Authors: Gonzalez Claudette H. , Capelozzi Vera L. , Wajntal Anita , Opitz John M. 
Published: June 2005

AbstractWe describe a 1‐month‐old female with the Wolf‐Hirschhorn syndrome. GTG‐banding studies disclosed a 46,XX,del(4)(:p15 → qter) in the child and apparently normal chromosomes in the parents. Autopsy at 4 months showed hypoplasia of most organs.
dup(12p) and hypoplastic left heart
Authors: Qazi Qutub H. , Kanchanapoomi R. , Cooper Rubin , Madahar Cecily , Beller Eva , Francke Uta 
Published: June 2005

AbstractA six‐week‐old female infant with multiple congenital anomalies including a hypoplastic left‐heart malformation was found to have duplication of 12p. Only two of 17 previously reported cases of dup (12p) had congenital heart disease, and both had hypoplastic left‐heart abnormality.
Recurrence risks for autosomal, epistatic two‐locus systems: The effects of linkage disequilibrium
Authors: Trojak Joseph E. , Murphy Edmond A. , Opitz John M. 
Published: June 2005

AbstractThe properties of the recurrence risk functions for Mendelian models involving two loci with epistatic interaction are examined. The two loci, H (hypostatic) and E (epistatic), are arbitrarily linked and diallelic. The general parameters are the genotypic frequencies and recombination fraction; the particular arguments are the number of affected and unaffected offspring. Limiting properties of the models are first described. Then, the more detailed properties of the models such as the sensitivity of the recurrence risk to the number of affected offspring are examined. If linkage disequilibrium is present, ie, the determinant of the gametic matrix is not zero, the predicted recurrence risk may resemble that empirically found in certain heritable diseases not evidently Mendelian.
A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25
Authors: Taysi Kutay , Sekhon Gurbax S. , Hillman Richard E. , Opitz John M. 
Published: June 2005

AbstractWe present two unrelated children with the de novo interstitial deletion of the proximal segment of the long arm of chromosome 1 (1q21–23→1q25). Comparison of the phenotypic characteristics of these two patients with those of two previously described patients with similar deletion confirms the existence of the proximal 1q deletion syndrome. The characteristics of this newly recognized deletion syndrome include pre‐ and postnatal growth retardation; severe psychomotor retardation; microbrachycephaly; sparse, fine scalp hair and eyebrows; cleft lip and palate; hernias; genitalia defects; small hands and feet; and clinodactyly of the fifth fingers.
The virginia racial integrity act revisited: The Plecker‐Laughlin correspondence: 1928–1930
Authors: Reilly Philip , Shaw Margery 
Published: June 2005

AbstractCorrespondence between Walter Ashby Plecker, Virginia State Registrar of Vital Statistics between 1912 and 1938, and Harry Hamilton Laughlin, Superintendent of the Eugenics Record Office at Cold Spring Harbor between 1910 and 1939, provides evidence of efforts to enforce the Virginia Racial Integrity Act of 1924. After antimiscegenation policy is placed in a historical context, excerpts from the letters are offered to demonstrate the zeal with which one state official pursued this “eugenic” policy.
Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)
Authors: Ventruto V. , Pisciotta R. , Renda S. , Festa B. , Rinaldi Maria Michela , Stabile M. , Cavaliere Maria Luigia , Esposito M. , Opitz John M. 
Published: June 2005

AbstractA father and three of his offspring had skeletal abnormalities consisting of a short forearm, cubitus valgus, fusion of first and second cervical vertebrae, and cleft of L5 and SI. All four had a reciprocal, apparently balanced, translocation 2;8(q32;p13). Normal sibs had normal chromosomes. We conclude that this may be a rare instance of an autosomal dominant condition associated with a balanced chromosome translocation.
Tracheal agenesis and associated malformations: A comparison with tracheoesophageal fistula and the VACTERL association
Authors: Evans J. A. , Reggin J. , Greenberg C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTracheal agenesis is a rare malformation of the lower respiratory tract. Investigation of a patient with multiple congenital anomalies and tracheal agenesis prompted a review of the literature which uncovered 42 previously published cases, most of whom had other defects. The presence in our patient of a tracheal abnormality in association with radial hypoplasia, single umbilical artery, tetralogy of Fallot, and left hydroureter initially suggested presence of the VACTERL association. However, numerical classification of malformation patterns in the reported patients with tracheal agenesis and in a series of patients with tracheoesophageal fistula and other components of the VACTERL association suggests that tracheal agenesis does not occur in the VACTERL association and may be part of another pattern of malformations which includes laryngeal atresia, complex congenital heart anomalies, radial ray defects, and duodenal atresia.
Congenital absence of left pericardium in a family
Authors: Taysi Kutay , Hartmann Alexis F. , Shackelford Gary D. , Sundaram Vasantha , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCharacteristic radiographic findings of absence of the left pericardium were observed in two relatives who were related to two other individuals with different types of congenital heart defects. Familial occurrence of congenital absence of pericardium has not been reported previously. The strong male sex predilection in the previously reported patients, the segregation pattern of affected individuals in the pedigree presented here, and the presence of two other individuals with multifactorially determined congenital heart defects in the same pedigree suggest multifactorial determination of congenital absence of the left pericardium.