bluuebunny/crossref_metadata_2025_split huggingface dataset:
Secular trend in peak oxygen consumption among United States youth in the 20th century
Authors: Eisenmann Joey C. , Malina Robert M. 
Published: October 2002

AbstractThe purpose of this study was to examine secular change in peak oxygen consumption (Vo2) in U.S. boys and girls using available data from the 20th century. Studies were primarily identified from review articles and a Medline search. To be included in the analysis, studies must have included direct measurement of peak Vo2 on healthy (free from overt disease) United States children and youth from the general population separated by sex. Data (mean values) were divided by decade and separated into three age groups: 6–12, 13–15, and 16–18 years for boys, and 6–11, 12–14, and 15–18 years for girls. Peak Vo2 values were expressed as related to bipedal locomotion; therefore, cycle ergometry values were corrected by a factor of 1.075. Mean values were fit by least squares, goodness‐of‐fit regression lines. Results indicate that absolute (L·min−1) and relative (ml·kg−1·min−1) peak Vo2 have remained relatively stable among boys and young girls. In adolescent girls, particularly those 15 years of age and older, peak Vo2 has decreased by approximately 20% over the past few decades. The available data indicate that aerobic fitness has not decreased in United States youth except in adolescent girls over the past few decades. Am. J. Hum. Biol. 14:699–706, 2002. © 2002 Wiley‐Liss, Inc.
Inbreeding and demographic transition in the Orozco Valley (Basque Country, Spain)
Authors: Peña J.A. , Alfonso‐Sánchez M.A. , Calderón R. 
Published: October 2002

AbstractInbreeding in the Orozco Valley (Basque Country, Spain) between the 18th and 20th centuries was investigated on the basis of ecclesiastical dispensations and surname lists. The variations over time are very similar to those observed elsewhere in Europe, with a major increase in the coefficient of inbreeding in the late 19th and early 20th centuries. This is due mainly to an increase in marriages between first cousins. A highly marked decrease in inbreeding is observed during the 20th century. The secular trends described by the coefficient calculated on the basis of dispensations and by that calculated on isonymy are very similar. The nonrandom component of isonymy reveals a selective search for a related spouse during the period of maximum inbreeding. These results are associated with the process of demographic transition which affected European populations as a whole in the 19th century, resulting in a greater availability of kin among potential mates and thus enabling inbreeding to increase to levels far higher than those observed for earlier centuries. Am. J. Hum. Biol. 14:713–720, 2002. © 2002 Wiley‐Liss, Inc.
Modeling birthweight and gestational age distributions: Additive vs. multiplicative processes
Authors: Gage Timothy B. 
Published: October 2002

AbstractResearchers have traditionally employed Gaussian distributions to model quantitative biological traits. Recently, mixtures of Gaussian distributions have begun to be used as well. However, there are many alternatives to the Gaussian distribution. From a theoretical perspective, the lognormal distribution is as applicable as the Gaussian (both are justified on the basis of the Central Limit Theorem). Here, the utility of mixtures of Gaussians and lognormals for describing birthweight and gestational age distributions are compared. This is carried out within the context of the hybrid‐lognormal distribution, in which the Gaussian and lognormal are special cases. The data consists of African American births (1985–1988) and European American births (1988) in the state of New York. The results suggest that of the conventional distributions, a mixture of two Gaussians generally provides the best fit to birthweight and gestational age. However, in the case of birthweight a two‐component hybrid‐lognormal fits better than any of the simpler models. This may be due to a feature of the hybrid‐lognormal distribution that can be interpreted as maternal constraints on fetal development. Am. J. Hum. Biol. 14:728–734, 2002. © 2002 Wiley‐Liss, Inc.
Rapid change in height and body proportions of Maya American children
Authors: Bogin B. , Smith P. , Orden A.B. , Varela Silva M.I. , Loucky J. 
Published: October 2002

AbstractMaya families from Guatemala migrated to the United States in record numbers from the late 1970s to the early 1990s. Births to Maya immigrant women have created a sizable number of Maya American children. The height and sitting height of 5 to 12 years children (n = 431) were measured in 1999 and 2000. Leg length was estimated and the sitting height ratio was calculated. These data were compared with a sample of Maya children living in Guatemala measured in 1998 (n = 1,347). Maya American children are currently 11.54 cm taller and 6.83 cm longer‐legged, on average, than Maya children living in Guatemala. Consequently, the Maya Americans have a significantly lower average sitting height ratio (i.e., relatively longer legs in proportion to length of the head and trunk) than do the Maya in Guatemala. These results add support to the hypothesis that both the height and body proportions of human populations are sensitive indicators of the quality of the environment for growth. Am. J. Hum. Biol. 14:753–761, 2002. © 2002 Wiley‐Liss, Inc.
Linus Pauling's “molecular diseases”: Between history and memory
Authors: Strasser Bruno J. 
Published: October 2002

AbstractIn 1949, Linus Pauling and his collaborators published a study in the journal Science entitled “Sickle Cell Anemia, a Molecular Disease.” In this now classic study, they showed that hemoglobin from patients suffering from sickle cell anemia has a different electrical charge than hemoglobin from healthy individuals. This result demonstrated for the first time that an abnormal protein could be causally linked to a disease, and that genes determined the structure of proteins. This report made headline news and had a powerful impact on both the biomedical community and the general public. Fifty years later, this study is discussed in almost every medical and biological textbook and has became a favorite example in editorials to illustrate the progress of biomedical research. This article explores the history of Pauling's sickle cell anemia and its subsequent integration in different collective memories, up to the present day. It also discusses the function of the collective memories of Pauling's discovery for contemporary biomedical research. © 2002 Wiley‐Liss, Inc.
Medical genetics and scientific expertise in Switzerland in the 1940s
Authors: Geiser Marc 
Published: October 2002

AbstractIn Switzerland, the first course in human genetics for physicians was organized during World War II. The topic had less to do with human genetics than with eugenics, however. After this course, bitter opposition was forthcoming from physicians. The second course was held in quite a different context. The war was almost over and the Swiss authorities had to prove that they were on the side of the Allies. As eugenics was deemed to be a Nazi science, opposition to it became stronger. Given this context, the proponents of human genetics changed their discourse. This article explores how this debate on human genetics influenced not only the discourse on this science, but also human genetics practices in postwar Switzerland. © 2002 Wiley‐Liss, Inc.
The importance of being marginal: Norma Ford Walker and a Canadian school of medical genetics
Authors: Miller Fiona 
Published: October 2002

AbstractThis study reviews the development of a medical genetics research tradition in Toronto, Canada. This research tradition, what I call the “Ford Walker school,” was forged in the 1930s in an iconoclastic mold. It was female‐dominated in an era when leading‐edge science was definitely not “women's work.” It emerged in a leading research university, but in a country that lagged in the sciences. These social relations of gender and nation symbolized and sustained a marginality that was reinforced by the substantive concerns of members of this research school. They adopted a service orientation toward medicine, were sympathetic to heterodox approaches to genetic and medical science, and were principally reliant on a marginal research tool—dermatoglyphics. Despite this marginality, Norma Ford Walker was among the founding members of the institutions of human and medical genetics in North America in the postwar period. She forged a research tradition that served as the basis for further developments in medical genetics in Toronto and educated a generation of students, many of them women, who went on to populate and then institutionalize the growing science and practice of medical genetics in Canada. The heterodox approach of the early Ford Walker school was displaced as the field grew in the postwar period. Yet many members of the research school retained dermatoglyphic technique and used it to contribute to progress in medical cytogenetics. In this article, I explore why the history of this marginal research school is important. © 2002 Wiley‐Liss, Inc.
Preferential transmission of the MTHFR 677 T allele to infants with down syndrome: Implications for a survival advantage
Authors: Hobbs Charlotte A. , Cleves Mario A. , Lauer Ronald M. , Burns Trudy L. , James S. Jill 
Published: October 2002

AbstractWe have examined the transmission frequencies of the methylenetetrahydrofolate reductase (MTHFR) 677 T and C alleles from heterozygous parents to children with Down syndrome (trisomy 21) in 202 Caucasian families. Our results indicated that the MTHFR 677T allele was transmitted to children with Down syndrome at a significantly higher rate than would be expected based on Mendelian inheritance patterns, and the C allele was transmitted at a significantly lower rate (P < 0.009). Transmission frequencies were also examined independently for maternally and paternally transmitted alleles to assess potential parent‐of‐origin effects. Because the vast majority of conceptions with trisomy 21 end in pregnancy loss, we questioned whether the observed preferential transmission of the T allele to this population of liveborn infants with Down syndrome could reflect a survival advantage. A plausible biochemical interpretation of these results is presented based on a maternal–fetal MTHFR 677T allele interaction in the context of the constitutive overexpression of three copies of the cystathionine beta synthase gene in the trisomy 21 fetus. Published 2002 Wiley‐Liss, Inc.
Tetrasomy 15q25.3 → qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors
Authors: Hu J. , McPherson E. , Surti U. , Hasegawa S.L. , Gunawardena S. , Gollin S.M. 
Published: October 2002

AbstractWe describe a girl who had been followed since birth for apparent Shprintzen‐Goldberg syndrome (SGS), with macrosomia, long fingers and toes, and craniosynostosis, and presented at 4 years of age with bilateral Wilms tumors (also called nephroblastoma). Cytogenetic analysis of her peripheral blood revealed a de novo supernumerary marker chromosome. This stable marker chromosome is present in 19 of 20 lymphocytes analyzed, as well as in all 40 tumor cells (20 from each tumor) studied. Classical and molecular cytogenetic studies indicate that the marker is derived from an inverted duplication of chromosome 15q25.3 → qter and contains a neocentromere. The presence of this marker chromosome in our patient results in tetrasomy 15q25.3 → qter. The relationship between her genotype and phenotype are discussed in light of genes, including IGF1R and FES, mapped to the aneusomic segment. © 2002 Wiley‐Liss, Inc.
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez
Authors: Wessels M.W. , den Hollander N.S. , Cohen‐Overbeek T.E. , Lesnik Oberstein M.S. , Nash R.M. , Wladimiroff J.W. , Niermeijer M.F. , Willems P.J. 
Published: October 2002

AbstractThe group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484–489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation. © 2002 Wiley‐Liss, Inc.
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families
Authors: Ramírez‐Castro J.L. , Pineda‐Trujillo N. , Valencia A.V. , Muñetón C.M. , Botero O. , Trujillo O. , Vásquez G. , Mora B.E. , Durango N. , Bedoya G. , Ruiz‐Linares A. 
Published: October 2002

AbstractWe report the genetic characterization of one family with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) type 1 and two families with BPES type 2 from a historically isolated population in northwest Colombia. Linkage and haplotype analyses indicate that BPES in these families is linked to 3q23. Mutation screening of FOXL2 in the family with BPES type 1 revealed a novel 394C → T nonsense mutation which deletes the forkhead DNA binding domain. The two families with BPES type 2 both carry an in‐frame 30 bp duplication that leads to the elongation of a polyalanine tract. This duplication has been previously reported in Europe, where recurrent mutation has been demonstrated in unrelated familial and sporadic BPES cases. The recurrent nature of this duplication seems to relate to the secondary structure of this DNA region. The genotype–phenotype correlation seen in the Colombian families is consistent with the recent proposal that BPES type 1 is caused by truncating mutations leading to haploinsufficiency, while BPES type 2 is due to mutations generating elongated protein products. © 2002 Wiley‐Liss, Inc.
Cleft palate, hypotelorism, and hypospadias: Schilbach‐Rott syndrome
Authors: Joss S.K. , Paterson W. , Donaldson M.D.C. , Tolmie J.L. 
Published: October 2002

AbstractA mother and two sons have cleft palate and facial appearance closely resembling cases described by Schilbach and Rott in 1988. One of the two males has hypospadias and learning disability and, like his mother, is of short stature. The family described by Schilbach and Rott also supports an autosomal dominant inheritance pattern. © 2002 Wiley‐Liss, Inc.
Fibular aplasia with ectrodactyly
Authors: Evans Jane A. , Reed Martin H. , Greenberg Cheryl R. 
Published: October 2002

AbstractFibular aplasia with split hand/foot or other defects of the central axis is a rare disorder that shares several characteristics with the better known tibial aplasia‐ectrodactyly syndrome. They appear to be inherited in an autosomal dominant fashion. In both, however, the phenotype is markedly variable, penetrance is reduced, and apparently sporadic cases are relatively frequent. We report a new case of this disorder and review the clinical and demographic findings in 47 others identified from the literature or other sources. A key observation was that the sex ratio is biased toward males, especially in apparently sporadic cases. This male bias is largely explained by a lower penetrance rate in women. Both affected males and females had affected children, but the risk to offspring was higher when the mother carried the gene, in keeping with a mixed model for genetic susceptibility, i.e., the penetrance of the major predisposing gene is acting against a multifactorially determined level of liability. Given the high degree of nonpenetrance and very variable expressivity, counseling with respect to recurrence risk is problematic and will likely remain so, even when the major predisposing gene is identified. © 2002 Wiley‐Liss, Inc.
International nosology and classification of constitutional disorders of bone (2001)
Authors: Hall Christine M. 
Published: October 2002

AbstractThe last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups). © 2002 Wiley‐Liss, Inc.
Eubaric hyperoxemia and experimental cerebral infarction
Authors: Flynn Erin P. , Auer Roland N. 
Published: October 2002

AbstractWe explore three questions concerning arterial hyperoxygenation and focal ischemia. (1) Does greater benefit accrue with higher levels of arterial hyperoxemia? (2) Is the net effect of continuous (intraischemic plus postischemic) oxygen therapy toxic, or beneficial to middle cerebral artery infarction? (3) In view of free radical theories of reperfusion injury, does hyperoxia isolated to the reperfusion period damage tissue? Rats subjected to transient, focal, normothermic, normoglycemic ischemia were assessed at 2 weeks' survival. Arterial hyperoxygenation from 98.9 ± 4.0 to 312.2 ± 48.4mm Hg during ischemia improved (p < 0.05) neurological function, as did isolated reperfusion hyperoxemia, but treatment with continuous hyperoxemia both during and after ischemia yielded greatest benefit (p < 0.001). Cortical infarcts constituted 6.5 ± 1.8% of the hemisphere at normoxia, but 2.3 ± 0.9% at hyperoxic levels (p < 0.01). Hyperoxia isolated to the reperfusion period also reduced cortical necrosis, from 6.5% to 2.7 ± 1.2%. However, continuous intraischemic and reperfusion hyperoxemia led to only 0.2 ± 0.1% cortical necrosis (p = 0.0005). Increasing the degree of hyperoxemia did not augment the benefit. We conclude that (1) eubaric hyperoxemia improves neurological and neuropathological outcome, (2) continuous oxygen therapy offers the greatest benefit, and (3) reperfusion hyperoxemia is beneficial. The findings should allay clinical concerns regarding oxygen‐induced reperfusion injury, and, by obviating hyperbaric chambers, encourage clinical trials studying arterial hyperoxemia in treating stroke.
Long‐term amygdalohippocampal stimulation for refractory temporal lobe epilepsy
Authors: Vonck Kristl , Boon Paul , Achten Erik , De Reuck Jacques , Caemaert Jacques 
Published: October 2002

AbstractShort‐term deep brain stimulation (DBS) recently has been shown to be efficacious in refractory temporal lobe epilepsy. We (1) evaluated long‐term DBS in medial temporal lobe structures in patients with normal magnetic resonance imaging (MRI) findings and (2) investigated the use of chronic DBS electrodes for the localization of the ictal onset zone before DBS. In three patients with complex partial seizures (CPSs), DBS electrodes were implanted in the amygdalohippocampal region to identify and subsequently stimulate the ictal onset zone. CPSs were compared before and after chronic DBS. Side effects were carefully monitored. DBS electrodes yielded high‐quality electroencephalogram recordings showing unilateral seizure onset in medial temporal lobe structures. For all patients, unilateral amygdalohippocampal stimulation was performed. After a mean follow‐up of 5 months (range, 3–6 months), all patients had a greater than 50% reduction in seizure frequency. In two patients, antiepileptic drugs could be tapered. None of the patients reported side effects. This open study demonstrates the feasibility of consecutive electroencephalographic recordings and DBS in medial temporal lobe structures using DBS electrodes. These results prompt further studies in a larger patient population to establish the efficacy and safety of chronic DBS as an alternative treatment for refractory temporal lobe epilepsy.
Thalamic neurodegeneration in multiple sclerosis
Authors: Cifelli Alberto , Arridge Marzena , Jezzard Peter , Esiri Margaret M. , Palace Jacqueline , Matthews Paul M. 
Published: October 2002

AbstractMultiple sclerosis is still regarded primarily as a disease of the white matter. However, recent evidence suggests that there may be significant involvement of gray matter. Here, we have used magnetic resonance imaging and magnetic resonance spectroscopy in vivo and histopathology postmortem to estimate thalamic neuronal loss in patients with multiple sclerosis. Our results show that neuronal loss in multiple sclerosis can be substantial (30–35% reduction). We conclude that a neurodegenerative pathology may make a major contribution to the genesis of symptoms in multiple sclerosis.
The structural consequences of newly diagnosed seizures
Authors: Liu Rebecca S. N. , Lemieux Louis , Bell Gail S. , Sisodiya Sanjay M. , Bartlett Philippa A. , Shorvon Simon D. , Sander Josemir W. A. S. , Duncan John S. 
Published: October 2002

AbstractIntractable epilepsy may be associated with widespread structural cerebral damage. We determined whether structural damage occurs to the hippocampus, cerebellum and neocortex in the first few years following a diagnosis of seizures. Sixty‐eight patients over the age of 14 years with newly diagnosed seizures and 90 matched controls underwent serial magnetic resonance imaging (MRI) brain scans 3.5 years apart. Using quantitative analysis of serial scans, we determined changes in hippocampal volume, hippocampal T2 relaxometry and total and regional brain volumes. Thirty‐four (50%) patients had recurrent unprovoked seizures between baseline and follow‐up scans. One patient with pre‐existing hippocampal sclerosis (HS) did not develop progressive hippocampal damage. Group analyses found no difference in change in cerebral measures between patients and controls or between patients with and without recurrent seizures. Significant quantitative changes in individuals were largely attributable to pre‐existing cerebral lesions or alcohol abuse. Subtle changes detected in individuals over 3.5 years but were not related to a history of overt seizures. Our results show patients with newly diagnosed seizures are not generally at increased risk of seizure‐induced structural cerebral damage as detected with MRI. Cerebral damage may occur before the onset of seizures or develop insidiously over a more prolonged period.
Herpes vector–mediated expression of proenkephalin reduces bone cancer pain
Authors: Goss James R. , Harley Cara F. , Mata Marina , O'Malley Mark E. , Goins William F. , Hu Xiaoping , Glorioso Joseph C. , Fink David J. 
Published: October 2002

AbstractWe examined whether a herpes simplex virus vector that expresses human proenkephalin could be used to attenuate nociception in a model of bone cancer pain in mice. Osteolytic sarcoma cells were implanted into the medullary space of the right femur, followed by a subcutaneous inoculation of a replication‐defective herpes simplex virus vector expressing human proenkephalin (vector SHPE) or a lacZ‐expressing control vector (vector SHZ). SHPE‐inoculated mice demonstrated a significant, naltrexone‐reversible decrease in pain‐related behavior assessed during open‐field motor activity. These results suggest that gene transfer with an enkephalin‐expressing vector may be used to treat pain resulting from cancer in bone.