bluuebunny/crossref_metadata_2025_split huggingface dataset:
The mutational spectrum of brachydactyly type C
Authors: Everman David B. , Bartels Cynthia F. , Yang Yue , Yanamandra Niranjan , Goodman Frances R. , Mendoza‐Londono J. Roberto , Savarirayan Ravi , White Susan M. , Graham John M. , Gale Robert Peter , Svarch Eva , Newman William G. , Kleckers Albert R. , Francomano Clair A. , Govindaiah Vinukonda , Singh Lalji , Morrison Stuart , Thomas J. Terrig , Warman Matthew L. 
Published: October 2002

AbstractGrowth/differentiation factor‐5 (GDF5), also known as cartilage‐derived morphogenetic protein‐1 (CDMP‐1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation segregating with the phenotype in a family whose trait was initially thought to map to human chromosome 12. We also describe heterozygous mutations in nine additional probands/families with BDC and show nonpenetrance in a mutation carrier. Finally, we show that mutant GDF5 polypeptides containing missense mutations in their active domains do not efficiently form disulfide‐linked dimers when expressed in vitro. These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5. © 2002 Wiley‐Liss, Inc.
Survey of Savanna Chimpanzees (Pan troglodytes verus) in Southeastern Sénégal
Authors: Pruetz J.D. , Marchant L.F. , Arno J. , McGrew W.C. 
Published: October 2002

AbstractA survey of the western subspecies of chimpanzee (Pan troglodytes verus) was conducted from 1 February to 9 April 2000 in Sénégal, West Africa, by the Miami Assirik Pan Project (MAPP). In addition to the Assirik area of the Parc National du Niokolo Koba (PNNK), areas south and east of the park were surveyed. Nests made by chimpanzees were used to estimate chimpanzee distribution and densities. Within the PNNK, chimpanzees were estimated to occur at an average of 0.13 individuals/km2. Chimpanzee nests were recorded in nine of 10 locales surveyed outside of the PNNK, as well as within the park. Data on 994 nests made by chimpanzees were recorded outside the PNNK, while 736 nests were recorded inside the park. Nest density in areas surveyed outside the PNNK, such as Bandafassi, Tomboronkoto, and Segou, was comparable to that of Assirik in habitats where nests were concentrated (i.e., evergreen gallery forest). The purpose of MAPP was to initiate long‐term research of chimpanzees in southeastern Sénégal, as a follow‐up to the Stirling African Primate Project (SAPP) of the 1970s. We sought to replicate the standards set by the SAPP project, except when technological innovations allowed improvement in data collection procedures (e.g., the global positioning system (GPS)). Am. J. Primatol. 58:35–43, 2002. © 2002 Wiley‐Liss, Inc.
Asymmetrical spondylolysis
Authors: Merbs Charles F. 
Published: October 2002

AbstractThe objective of this study was to examine examples of spondylolysis in which the pattern of separation was clearly asymmetrical, in order to learn more about the process of bone separation that produces this condition. Although the primary focus was on unilateral complete separation, examples of asymmetry represented by incomplete separation and by complete bilateral separation where the separation sites are in different locations on the two sides were included. Two collections were used, one consisting of Canadian Inuit skeletons curated at the Canadian Museum of Civilization, and the other of 48 individual examples of asymmetrical spondylolysis from sites in a variety of localities curated by several different institutions. The first collection was studied primarily to observe early manifestations of spondylolysis, particularly incomplete separation, while various patterns of asymmetrical complete separation were the focus of the second. The results indicate that asymmetry is part of the earliest osteological picture of spondylolysis, with right‐sidedness predominating, a condition perhaps related in some way to handedness. The right‐side predominance appears to decrease with age. The ratio of unilateral to bilateral separation ranges from 3–33% in different studies, and a significant number of the unilateral separations have spina bifida occurring in the same vertebra. Overall, the specimens examined here, considered along with clinical cases, nicely illustrate a progression of spondylolysis. A unilateral separation may heal, it may progress to bilateral separation, or it may remain as a permanent condition, producing a pattern of degenerative changes that can include spondylolisthesis. A unilateral healing of bilateral complete separation is likely a rare phenomenon, at least after the separations have reached a certain level of maturity. Am J Phys Anthropol 119:156–174, 2002. © 2002 Wiley‐Liss, Inc.
New tool use by wild Sumatran orangutans (Pongo pygmaeus abelii)
Authors: Fox Elizabeth A. , Bin'Muhammad Ibrahim 
Published: October 2002

AbstractTwo forms of tool use by wild Sumatran orangutans are reported from the Agusan Monitoring Station, a new research site in Indonesia. One form, a branch “hook” used in locomotion, has not been reported previously in wild orangutans. The second form, a leaf “pad” used to protect the hands and feet from thorns while feeding, shares similarities in form and function with a tool type used by orangutans at Ketambe, a nearby research site. Both instances of tool use occurred in areas of disturbance, and appear to be spontaneous inventions under novel conditions, although habitual use of the tool in other ecological contexts is plausible. A summary of the distribution of tool use types in wild orangutans is presented. Am J Phys Anthropol 119:186–188, 2002. © 2002 Wiley‐Liss, Inc.
Mandibular condyle traits in Neanderthals and other Homo: A comparative, correlative, and ontogenetic study
Authors: Jabbour Rebecca S. , Richards Gary D. , Anderson John Y. 
Published: October 2002

AbstractThe relationship between the mandibular condyle and the crest of the mandibular notch (CMN) has historically entered into discussions of Neanderthal characteristics and was recently suggested to be autapomorphic in Neanderthals. The Neanderthal CMN has been described as intersecting the condyle in the middle, while the modern human CMN runs to the condyle's lateral end. A large lateral condylar tubercle (LCT) has also been observed in Neanderthals and thought to be related to medial (or less lateral) CMN position. In addition, the presence of a less lateral CMN early in ontogeny, as seen in the Amud 7 infant, has been argued to demonstrate great evolutionary divergence in Neanderthals. Using a scoring system for each trait, this study first examines the expression of CMN position and LCT size in 102 adult modern humans and in samples of Neanderthals and other fossil Homo. Then, CMN position is scored in 208 subadult modern humans to elucidate the ontogeny of this trait. Results show that CMN position is not autapomorphic in Neanderthals, but Neanderthals have significantly more CMNs in the least‐lateral score category than does the modern human sample. Large LCTs are found to be strongly predictive of less lateral CMN position, although less lateral CMN position may exist in the absence of a large LCT. The complex ontogenetic pattern of CMN expression observed indicates that features of subadult and adult condylar morphology cannot be constructively compared without first considering subadult morphology on its own functional and developmental terms. Am J Phys Anthropol 119:144–155, 2002. © 2002 Wiley‐Liss, Inc.
Stable carbon and nitrogen isotope values of bone and teeth reflect weaning age at the Medieval Wharram Percy site, Yorkshire, UK
Authors: Richards M.P. , Mays S. , Fuller B.T. 
Published: October 2002

AbstractWe report on the measurements of carbon and nitrogen stable isotopes of both bone and teeth from a single site and population (Medieval Wharram Percy), undertaken to explore variations due to weaning in a past population. There have been a number of recent studies of weaning using δ15N values of ribs, and we indicate a number of assumptions that must be met before the results of such studies can be correctly interpreted. We found that rib collagen δ15N values decrease to adult levels after age 2 years, indicating that weaning occurred at or before this age. Rib collagen δ13C values are also more enriched than adult δ13C values before age 2 years, and we argue that this is due to the so‐called “carnivore” effect in δ13C. We measured teeth and rib δ15N values from the same individuals and found that for individuals up to age 11 years, tooth dentine δ15N is higher than adult rib δ15N values, indicating that the dentine was formed during breast‐feeding and that there was almost no turnover of dentine since. We observed some decrease in δ13C and δ15N rib values, compared to adult rib and teeth values, for the few years after weaning that may relate to a theoretically predicted physiological nitrogen imbalance during this period of rapid growth, but this is more likely due to a childhood diet (up to age 9) which was isotopically different from later diet, possibly consisting of a greater proportion of plant foods. Am J Phys Anthropol 119:205–210, 2002. © 2002 Wiley‐Liss, Inc.
On the genetic uniqueness of the Ami aborigines of Formosa
Authors: Sewerin Barbara , Cuza Francisco J. , Szmulewicz Martin N. , Rowold Diane J. , Bertrand‐Garcia Ralph L. , Herrera Rene J. 
Published: October 2002

AbstractIn the attempt to reconstruct the prehistory of Pacific and Indian Ocean populations, Taiwan's aborigines appear to be of particular interest. Linguistic and archeological evidence indicates that the dispersal of Austronesian speakers throughout the islands of Oceania and Southeast Asia may have originated from Taiwan about 5,000 years ago. The Ami are Taiwan's largest aboriginal group. Here, we report on six polymorphic point mutation loci in Ami individuals and compare allelic frequencies to worldwide populations. In order to examine the genetic characteristics and relationships of the Ami aborigines, we used the allelic frequency data to generate expected heterozygosities, power of discrimination values, maximum likelihood phylogenetic trees, principal component maps, and centroid gene flow plots. These analyses argue for the genetic isolation and uniqueness of the Ami people. Data supportive of limited gene flow and/or small population size, as well as genetic similarities to Native Americans, were observed. Am J Phys Anthropol 119:240–248, 2002. © 2002 Wiley‐Liss, Inc.
Does Homo neanderthalensis play a role in modern human ancestry? The mandibular evidence
Authors: Rak Yoel , Ginzburg Avishag , Geffen Eli 
Published: October 2002

AbstractData obtained from quantifying the upper part of the mandibular ramus (the coronoid process, the condylar process, and the notch between them) lead us to conclude that Neandertals (both European and Middle Eastern) differ more from Homo sapiens (early specimens such as Tabun II, Skhul, and Qafzeh, as well as contemporary populations from as far apart as Alaska and Australia) than the latter differs from Homo erectus. The specialized Neandertal mandibular ramus morphology emerges as yet another element constituting the derived complex of morphologies of the mandible and face that are unique to Neandertals. These morphologies provide further support for the contention that Neandertals do not play a role in modern human biological ancestry, either through “regional continuity” or through any other form of anagenetic progression. Am J Phys Anthropol 119:199–204, 2002. © 2002 Wiley‐Liss, Inc.
Brief communication: Diachronic investigation of linear enamel hypoplasia in prehistoric skeletal samples from Trentino, Italy
Authors: Cucina Andrea 
Published: October 2002

AbstractLinear enamel hypoplasia was scored on Neolithic, Copper Age, and Early Bronze Age samples from the Trentino region, Italy, in order to compare the extent of growth disruption in different biocultural subsistence systems (foragers with little agriculture, to agriculturists and agropastoralists). The Early Bronze Age sample shows a higher frequency of enamel defects and an earlier chronological onset than the early Neolithic sample. The higher frequency of defects in the Bronze Age sample could be linked to less diversified nutrition and, because of increased sedentism, a higher risk of disease. Am J Phys Anthropol 119:283–287, 2002. © 2002 Wiley‐Liss, Inc.
Birth weight and environmental heat load: A between‐population analysis
Authors: Wells Jonathan C.K. , Cole Tim J. 
Published: October 2002

AbstractLow birth weight, a major cause of infant morbidity and mortality, is caused by different factors in Western and developing‐country populations. In addition to differing in terms of ethnicity, maternal size, maternal nutritional status, and disease load, developing‐country and Western populations are also characterized by different environmental heat loads. Thermodynamic theory predicts that heat stress is mitigated by reduced size of both mother and offspring, and therefore generates the hypothesis that reduced birth weight may be an adaptation to environmental heat load. The aim of this study was to test the hypothesis that environmental heat load is associated with between‐population variability in birth weight. Data on birth weight and thermal environment were obtained from the literature for 140 populations. Further data on several physical, social, and biological confounders were also collated. After adjusting for confounding factors, of which only maternal height and per capita gross domestic product were statistically significant, heat stress showed a significant inverse relationship with birth weight in 108 populations, accounting for an additional 9.6% of the between‐population variance. Though based on data collected from more than one source, these results are consistent with the hypothesis that heat stress is inversely associated with birth weight, as previously reported for within‐population studies. Further studies are needed to establish to what extent heat stress is a determinant of low birth weight in developing countries. Am J Phys Anthropol 119:276–282, 2002. © 2002 Wiley‐Liss, Inc.
Gliomatosis cerebri: Molecular pathology and clinical course
Authors: Herrlinger Ulrich , Felsberg Jörg , Küker Wilhelm , Bornemann Antje , Plasswilm Ludwig , Knobbe Christiane B. , Strik Herwig , Wick Wolfgang , Meyermann Richard , Dichgans Johannes , Bamberg Michael , Reifenberger Guido , Weller Michael 
Published: October 2002

AbstractGliomatosis cerebri is a rare, diffusely growing neuroepithelial tumor characterized by extensive brain infiltration involving more than two cerebral lobes. Among 13 patients with gliomatosis cerebri (median age, 46 years), biopsies showed features of diffuse astrocytoma (n = 4), oligoastrocytoma (n = 1), anaplastic astrocytoma (n = 5), anaplastic oligoastrocytoma (n = 1), or glioblastoma (n = 2). Molecular genetic investigation showed TP53 mutations in three of seven tumors and both PTEN mutation and epidermal growth factor receptor overexpression in one tumor. Amplification of CDK4 or MDM2 or homozygous deletion of CDKN2A was not detected. Three of 10 patients receiving radiotherapy showed a partial response (one patient) or had stable disease (two patients) lasting for more than 1 year. Four of six patients treated with procarbazine, carmustine, vincristine chemotherapy demonstrated partial remission (one patient), minor response (two patients), or stable disease (one patient). Median survival time from diagnosis was 14 months (range, 4–91+ months). Infratentorial involvement was associated with shorter survival. We conclude that (1) the molecular genetic alterations in gliomatosis cerebri resemble those in diffuse astrocytomas; (2) the prognosis of gliomatosis cerebri is variable but for at least 50% of patients as poor as for glioblastoma; and (3) some patients respond to radiotherapy and/or procarbazine, carmustine, vincristine chemotherapy.
Treatment of multiple sclerosis with the pregnancy hormone estriol
Authors: Sicotte Nancy L. , Liva Stephanie M. , Klutch Rochelle , Pfeiffer Paul , Bouvier Seth , Odesa Sylvia , Wu T. C. Jackson , Voskuhl Rhonda R. 
Published: October 2002

AbstractMultiple sclerosis patients who become pregnant experience a significant decrease in relapses that may be mediated by a shift in immune responses from T helper 1 to T helper 2. Animal models of multiple sclerosis have shown that the pregnancy hormone, estriol, can ameliorate disease and can cause an immune shift. We treated nonpregnant female multiple sclerosis patients with the pregnancy hormone estriol in an attempt to recapitulate the beneficial effect of pregnancy. As compared with pretreatment baseline, relapsing remitting patients treated with oral estriol (8mg/day) demonstrated significant decreases in delayed type hypersensitivity responses to tetanus, interferon‐γ levels in peripheral blood mononuclear cells, and gadolinium enhancing lesion numbers and volumes on monthly cerebral magnetic resonance images. When estriol treatment was stopped, enhancing lesions increased to pretreatment levels. When estriol treatment was reinstituted, enhancing lesions again were significantly decreased. Based on these results, a larger, placebo‐controlled trial of estriol is warranted in women with relapsing remitting multiple sclerosis. This novel treatment strategy of using pregnancy doses of estriol in multiple sclerosis has relevance to other autoimmune diseases that also improve during pregnancy.
Evidence that accumulation of ceramides and cholesterol esters mediates oxidative stress–induced death of motor neurons in amyotrophic lateral sclerosis
Authors: Cutler Roy G. , Pedersen Ward A. , Camandola Simonetta , Rothstein Jeffrey D. , Mattson Mark P. 
Published: October 2002

AbstractAmyotrophic lateral sclerosis (ALS) is characterized by degeneration of motor neurons in the spinal cord resulting in progressive paralysis and death. The pathogenic mechanism of ALS is unknown but may involve increased oxidative stress, overactivation of glutamate receptors, and apoptosis. We report abnormalities in sphingolipid and cholesterol metabolism in the spinal cords of ALS patients and in a transgenic mouse model (Cu/ZnSOD mutant mice), which manifest increased levels of sphingomyelin, ceramides, and cholesterol esters; in the Cu/ZnSOD mutant mice, these abnormalities precede the clinical phenotype. In ALS patients and Cu/Zn‐SOD mutant mice, increased oxidative stress occurs in association with the lipid alterations, and exposure of cultured motor neurons to oxidative stress increases the accumulation of sphingomyelin, ceramides, and cholesterol esters. Pharmacological inhibition of sphingolipid synthesis prevents accumulation of ceramides, sphingomyelin, and cholesterol esters and protects motor neurons against death induced by oxidative and excitotoxic insults. These findings suggest a pivotal role for altered sphingolipid metabolism in the pathogenesis of ALS.
Quinacrine does not prolong survival in a murine Creutzfeldt‐Jakob disease model
Authors: Collins Steven J. , Lewis Victoria , Brazier Marcus , Hill Andrew F. , Fletcher Ashley , Masters Colin L. 
Published: October 2002

AbstractParamount among issues relating to the transmissible spongiform encephalopathies (also known as prion diseases) is the absence of any effective therapy. This need has been heightened by the substantial European and emerging global problem of bovine spongiform encephalopathy and consequent variant Creutzfeldt‐Jakob disease. Stimulated by the recent reports of a potent antiprion effect in cell culture–based clearance assays, we studied the utility of quinacrine in a well‐characterized in vivo model of mouse‐adapted transmissible spongiform encephalopathy. Our results failed to show any evidence that quinacrine is effective when using the simple but objective measure of survival prolongation.
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
Authors: Fogli Anne , Wong Kondi , Eymard‐Pierre Eleonore , Wenger Jack , Bouffard John‐Paul , Goldin Ehud , Black Deborah N. , Boespflug‐Tanguy Odile , Schiffmann Raphael 
Published: October 2002

AbstractCree leukoencephalopathy is a rapidly fatal infantile autosomal recessive leukodystrophy of unknown cause observed in the native North American Cree and Chippewayan indigenous population. We found in the brain of affected individuals the typical foamy cells with the oligodendroglial phenotype described in central hypomyelination syndrome/vanishing white matter, a syndrome related to mutations in the genes encoding the five subunits of the eucaryotic translation initiation factor eIF2B. In three patients of two Cree families, we found a homozygous missense mutation resulting in a histidine substitution at arginine 195 of ε‐eIF2B.
Mathematical and computational modeling of heat transfer and deformation in film blowing process
Authors: Khonakdar Hossein Ali , Morshedian J. , Nodehi A. O. 
Published: October 2002

AbstractThe blown‐film extrusion process was investigated both experimentally and theoretically. In experimental study, nonisothermal experiments were conducted using low‐density polyethylene. Rheological parameters were studied, considering the polymer melt as a power law fluid in nonisothermal conditions. Axial tension, bubble diameter, and film thickness at a variety of film extrusion conditions, that is, different flow rate, pressure difference across the film, and take‐up speeds were measured. In theoretical study, an analysis was employed to simulate the blown‐film extrusion process by setting up the force‐ and energy‐balance equations on the film bubble moving upward. Four nonlinear complex differential equations were integrated numerically, using an iterative backward shooting method and the fifth‐order Runge‐kutta technique. The program written, based on a mathematical model, predicts the bubble shape, temperature profile, and film thickness as a function of the distance along the machine axis. Furthermore, the model evaluates the elongational viscosity of LDPE in biaxial tension in terms of distance from die axis and take‐up speed. In this simulation, the total stress components in machine and the transverse directions were computed from the die exit up to the freeze line, the knowledge of which is necessary for evaluation of the elastic memory build up in heat‐shrinkable films. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2115–2123, 2002
Study of poly(methyl methacrylate) film doped with inclusion complex of p‐tert‐butylcalix[8]arene
Authors: Li Xinhong , Chen Yuanyin , Fang Pengfei 
Published: October 2002

AbstractSeven kinds of poly(methyl methacrylate) (PMMA) films doped with [60]fullerene or its inclusion complex of p‐tert‐butylcalix[8]arene were prepared and characterized by FTIR, UV‐vis, TG, and DSC. It was found that the thermal stability of PMMA is much improved by doping with the inclusion complex in comparison with [60]fullerene itself, that is, the inclusion complex retards the thermal depolymerization of PMMA very effectively. The influence of incorporating active carbon powder or calix[8]arene on the thermal stability of PMMA was also investigated. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1549–1552, 2002