bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hypertrophic Cardiomyopathy: Low Frequency of Mutations in the β-Myosin Heavy Chain (MYH7) and Cardiac Troponin T (TNNT2) Genes among Spanish Patients
Authors: Garcı́a-Castro Mónica , Reguero Julián R , Batalla Alberto , Dı́az-Molina Beatriz , González Pelayo , Alvarez Victoria , Cortina Arturo , Cubero Gustavo I , Coto Eliecer 
Published: February 2004

Abstract
Background: Mutations in the cardiac β-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes are reportedly responsible for up to 40% of familial cases with hypertrophic cardiomyopathy (HC). Although there are no mutational hotspots, most of the mutations are located in specific exons of the MYH7 and TNNT2 genes. Currently it is not possible to predict the phenotype in carriers of mutations in these genes, although it is widely accepted that mutations in the MYH7 gene predispose to severe HC, whereas TNNT2 mutations are frequently linked to sudden cardiac death (SCD) in spite of minimal hypertrophy.
Methods: We sequenced exons 8, 9, 13–16, 19, 20, 22–24, and 30 of the MYH7 gene and exons 8, 9, 11, and 14–16 of the TNNT2 gene in 30 HC patients (18–60 years of age) from the region of Asturias (Northern Spain); 25 cases (80%) had a family history of the disease. Genomic DNA was amplified, and fragments were directly sequenced. Each DNA variant found in the patients was also analyzed in 200 healthy controls through single-strand conformation analysis.
Results: Four of the probands had nucleotide changes absent in the healthy controls. Two cases had mutations previously described in the MYH7 gene (exon 14, Arg453Cys) or the TNNT2 gene (exon 16, Arg278Cys). Two cases had new mutations (MYH7 exon 22, Met822Val; TNNT2 exon 14, Lys247Arg) not found among the healthy controls. We found MYH7 Met822Val in a woman with a severe form of HC; the mutation was absent in her parents, indicating a de novo mutation. MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD. TNNT2 R278C was present in a woman with severe HC, but a sister and a daughter were mutation carriers and did not have hypertrophy. A patient with severe HC was carrier of TNNT2 247Arg.
Conclusions:Mutations in the MYH7 and TNNT2 genes can be found in patients without a family history of HC. However, compared with other populations MYH7 or TNNT2 mutations were rare among our HC patients. This study illustrates the extreme phenotypic heterogeneity in carriers of MYH7 or TNNT2 mutations.
Quantification of Mitochondrial DNA Deletion, Depletion, and Overreplication: Application to Diagnosis
Authors: Chabi Béatrice , Mousson de Camaret Bénédicte , Duborjal Hervé , Issartel Jean-Paul , Stepien Georges 
Published: February 2004

AbstractBackground: Many mitochondrial pathologies are quantitative disorders related to tissue-specific deletion, depletion, or overreplication of mitochondrial DNA (mtDNA). We developed an assay for the determination of mtDNA copy number by real-time quantitative PCR for the molecular diagnosis of such alterations.Methods: To determine altered mtDNA copy number in muscle from nine patients with single or multiple mtDNA deletions, we generated calibration curves from serial dilutions of cloned mtDNA probes specific to four different mitochondrial genes encoding either ribosomal (16S) or messenger (ND2, ND5, and ATPase6) RNAs, localized in different regions of the mtDNA sequence. This method was compared with quantification of radioactive signals from Southern-blot analysis. We also determined the mitochondrial-to-nuclear DNA ratio in muscle, liver, and cultured fibroblasts from a patient with mtDNA depletion and in liver from two patients with mtDNA overreplication.Results: Both methods quantified 5–76% of deleted mtDNA in muscle, 59–97% of mtDNA depletion in the tissues, and 1.7- to 4.1-fold mtDNA overreplication in liver. The data obtained were concordant, with a linear correlation coefficient (r2) between the two methods of 0.94, and indicated that quantitative PCR has a higher sensitivity than Southern-blot analysis.Conclusions: Real-time quantitative PCR can determine the copy number of either deleted or full-length mtDNA in patients with mitochondrial diseases and has advantages over classic Southern-blot analysis.
C-reactive Protein Concentration Distribution among US Children and Young Adults: Findings from the National Health and Nutrition Examination Survey, 1999–2000
Authors: Ford Earl S , Giles Wayne H , Myers Gary L , Rifai Nader , Ridker Paul M , Mannino David M 
Published: February 2004

Abstract
Background: The distribution of C-reactive protein (CRP) concentrations among children and young adults in the US is not known at present.
Methods: We used data from 3348 US children and young adults 3–19 years of age who participated in the National Health and Nutrition Examination Survey, 1999–2000, to describe the distribution of CRP concentrations, based on results obtained with a high-sensitivity latex-enhanced turbidimetric assay.
Results: The range of CRP concentrations was 0.1–90.8 mg/L (mean, 1.6 mg/L; geometric mean, 0.5 mg/L; median, 0.4 mg/L). CRP concentrations increased with age. Females 16–19 years of age had higher concentrations than males in this age range (P = 0.003). Mexican Americans had the highest CRP concentrations among the three major race or ethnic groups (P &lt;0.001).
Conclusions: For the first time, these data describe the CRP concentration distribution among US children and young adults, based on results obtained with a high-sensitivity assay.
Profiling of Pentose Phosphate Pathway Intermediates in Blood Spots by Tandem Mass Spectrometry: Application to Transaldolase Deficiency
Authors: Huck Jojanneke H J , Struys Eduard A , Verhoeven Nanda M , Jakobs Cornelis , van der Knaap Marjo S 
Published: February 2004

AbstractBackground: Recently, several patients with abnormal polyol profiles in body fluids have been reported, but the origins of these polyols are unknown. We hypothesized that they are derived from sugar phosphate intermediates of the pentose phosphate pathway (PPP), and we developed a semiquantitative method for profiling of pentose phosphate pathway intermediates.Methods: Sugar phosphates in blood spots were simultaneously analyzed by liquid chromatography–tandem mass spectrometry using an ion-pair-loaded C18 HPLC column. The tandem mass spectrometer was operated in the multiple-reaction monitoring mode. Enzymatically prepared d-[13C6]glucose 6-phosphate was used as internal standard. The method was used to study sugar phosphates abnormalities in a patient affected with a deficiency of transaldolase (TALDO1; EC 2.2.1.2).Results: In control blood spots, dihydroxyacetone phosphate, pentulose 5-phosphates, pentose 5-phosphates, hexose 6-phosphates, and sedoheptulose 7-phosphate were detected. Detection limits ranged from ∼100 to ∼500 nmol/L. Glyceraldehyde 3-phosphate and erythrose 4-phosphate were undetectable. Intra- and interassay imprecision (CVs) were 10–17% and 12–21%, respectively. In blood from the TALDO1-deficient patient, sedoheptulose 7-phosphate was increased.Conclusions: The new method allows investigation of patients in whom a defect in the PPP is suspected. Measurements of sugar phosphate intermediates of the PPP may provide new insights into metabolic defects underlying the accumulating polyols.
Sensitivity and Specificity of the Cozart Microplate EIA Cocaine Oral Fluid at Proposed Screening and Confirmation Cutoffs
Authors: Kim Insook , Barnes Allan J , Schepers Raf , Moolchan Eric T , Wilson Lisa , Cooper Gail , Reid Claire , Hand Chris , Huestis Marilyn A 
Published: February 2004

AbstractBackground: Oral fluid is currently being evaluated as an alternative matrix for monitoring illicit drugs in federally mandated workplace drug testing, for addiction treatment programs, and for driving under the influence testing. The sensitivity, specificity, and efficiency of the Cozart® Microplate EIA Cocaine Oral Fluid Kit (COC ELISA) were determined by comparison with gas chromatography–mass spectrometry (GC/MS) results at screening and confirmation cutoffs proposed in the US and UK.Method: Oral fluid was collected by expectoration after citric acid candy stimulation or with Salivette® neutral cotton swabs or Salivette citric acid-treated cotton swabs before and after cocaine (COC) administration. Specimens (n = 1468) were analyzed with the COC ELISA for screening and with solid-phase extraction followed by GC/MS for confirmation. Three screening cutoffs (10, 20, and 30 μg/L) and four GC/MS cutoffs (2.5, 8, 10, and 15 μg/L COC, benzoylecgonine, and/or ecgonine methyl ester) were evaluated. GC/MS limit of quantification was 2.5 μg/L for all analytes.Results: COC ELISA interassay imprecision (CV; n = 19) was 16% at 16.7 μg/L and 12% at 81.8 μg/L. With the 2.5, 8, 10, and 15 μg/L GC/MS cutoffs, 59.0%, 54.7%, 52.7%, and 48.7% of the oral fluid specimens were positive, respectively. Sensitivity, specificity, and efficiency were 92.2%, 84.7%, and 88.8%, respectively, for the suggested Substance Abuse and Mental Health Services Administration (SAMHSA) cutoffs and 90.2%, 89.2%, and 89.7% for cutoffs currently used in the UK.Conclusions: COC ELISA had suitable sensitivity, specificity, and efficiency for identifying COC exposure at both the proposed SAMHSA and UK cutoffs. Sensitivity, specificity, and efficiency were &gt;84% for both cutoffs, but 92 additional true-positive samples were identified with the SAMHSA cutoffs.
Microstructural Design for Enhanced Elevated Temperature Properties in Sand‐castable Magnesium Alloys
Authors: Bettles C.J. , Gibson M.A. 
Published: February 2004

AbstractThe low pressure and gravity casting processing techniques offer the component designer an opportunity to produce pieces with increased complexity over those able to be fabricated via the high pressure die casting route. The design of appropriate microstructures for the enhancement of elevated temperature properties is dependent on the chosen processing route, with the low pressure and gravity techniques allowing for post‐cast manipulation of the microstructure through heat treatment. There are competing microstructural requirements for strength and creep resistance in casting alloys, and the optimised microstructure must, of necessity, be a compromise. The contributions from solid solution strengthening, grain boundaries and precipitation processes are described, with particular reference to elevated temperature magnesium alloys.
Sagittal clefting of the body and other vertebral developmental errors in Canadian Inuit skeletons
Authors: Merbs Charles F. 
Published: February 2004

AbstractThe objective of this study was to determine the expression, distribution in the column, and overall frequency of sagittal clefting of the vertebral body in the skeletons of two Canadian Inuit groups. One group, referred to as Thule‐Historic, lived along the coast northwest of Hudson Bay, while the other, known as the Sadlermiut, were limited to Southampton Island and Coats Island north of Hudson Bay. The Thule‐Historic people are thought to be the ancestors of the present‐day Inuit of this region, whereas the much smaller, relatively isolated Sadlermiut became extinct during the winter of 1902–1903. The sagittal clefting results were also compared with those obtained for two other vertebral developmental problems, segmentation error and spina bifida. Sagittal clefting was found to occur with high frequency in the two Inuit series, especially in the region T6–T10. Segmentation errors were found to occur in approximately the same region of the column, while spina bifida produced a completely different pattern, occurring primarily at T11 and S1. The T11 involvement is limited to females, while S1 involvement occurs primarily in males. Sagittal clefting and spina bifida occur in the same individual more frequently than sagittal clefting and segmentation error. Possibly reflecting the smaller population size and isolated location of the Sadlermiut, sagittal clefting was found with greater frequency and intensity in the skeletons of this group than in those of the Thule‐Historic Inuit. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Sedentism, seasonality, and economic status: A multivariate analysis of maternal dietary and health statuses between pastoral and agricultural Ariaal and Rendille communities in northern Kenya
Authors: Fujita Masako , Roth Eric Abella , Nathan Martha A. , Fratkin Elliot 
Published: February 2004

AbstractThis paper examines longitudinal data to assess the effects of the recent transition from pastoralism to sedentary agriculture for Ariaal and Rendille mothers in northern Kenya. Dietary, morbidity, and anthropometric data resulting from bimonthly repeated surveys of the pastoral community of Lewogoso and the sedentary agricultural community of Songa, covering the period from September 1994–July 1995, were used to test two hypotheses: 1) that sedentism is associated with changes in diet, seasonality, morbidity, and socioeconomic differentiation, and 2) that these changes affect maternal body composition. The first hypothesis is partly supported, with starch replacing milk in the sedentary diet. Repeated‐measures multivariate analysis of variance revealed no seasonal effects for diet in the agricultural sample, while starch consumption was significantly affected by seasonality for the pastoral sample. The agricultural community also featured economic dietary disparities favoring wealthier mothers, while no such effect was found in the pastoral community. However, no seasonal or economic effects were found for morbidity patterns in either sample. The second hypothesis is also partially supported, as a generalized estimating equations analysis revealed differences in the way diet and economic strata influence maternal anthropometric values. Economic status was significantly associated with maternal arm‐fat area in Lewogoso. Milk was a significant factor associated with maternal weight and arm‐muscle area in Songa. These findings are discussed in light of development policy implications. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Hypothesis for the causes and periodicity of repetitive linear enamel hypoplasia in large, wild African (Pan troglodytes and Gorilla gorilla) and Asian (Pongo pygmaeus) apes
Authors: Skinner Mark F. , Hopwood David 
Published: February 2004

AbstractRepetitive linear enamel hypoplasia (rLEH) is often observed in recent large‐bodied apes from Africa and Asia as well as Mid‐ to Late Miocene sites from Spain to China. The ubiquity and periodicity of rLEH are not understood. Its potential as an ontogenetic marker of developmental stress in threatened species (as well as their ancient relatives) makes rLEH an important if enigmatic problem. We report research designed to show the periodicity of rLEH among West African Pan troglodytes (12 male, 32 female), Gorilla gorilla (10 male, 10 female), and Bornean and Sumatran Pongo pygmaeus (11 male, 9 female, 9 unknown) from collections in Europe. Two methods were employed. In the common chimpanzees and gorillas, the space between adjacent, macroscopically visible LEH grooves on teeth with two or more episodes was expressed as an absolute measure and as a ratio of complete unworn crown height. In the orangutans, the number of perikymata between episode onsets, as well as duration of rLEH, was determined from scanning electron micrographs of casts of incisors and canines. We conclude that stress in the form of LEH commences as early as 2.5 years of age in all taxa and lasts for several years, and even longer in orangutans; the stress is not chronic but episodic; the stressor has a strong tendency to occur in pulses of two occurrences each; and large apes from both land masses exhibit rLEH with an average periodicity of 6 months (or multiples thereof; Sumatran orangutans seem to show only annual stress), but this needs further research. This is supported by evidence of spacing between rLEH as well as perikymata counts. Duration of stress in orangutans averages about 6 weeks. Finally, the semiannual stressor transcends geographic and temporal boundaries, and is attributed to regular moisture cycles associated with the intertropical convergence zone modified by the monsoon. While seasonal cycles can influence both disease and nutritional stress, it is likely the combination of seasonal variation in fruiting cycles with specific stressors (malaria and/or intestinal parasites, especially hookworm) that results in this widespread phenomenon. This seasonal stress is sufficiently common and of long duration (6 weeks on average in orangutans) that we think rLEH may reflect significant stress in recent and, inferentially, fossil apes. Increasing seasonality may have impinged negatively on later Miocene apes, especially if they lacked a clear birth peak or seasonality in their reproductive cycles. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Ontogenetic correlates of diet in Malagasy lemurs
Authors: Godfrey L.R. , Samonds K.E. , Jungers W.L. , Sutherland M.R. , Irwin M.T. 
Published: February 2004

AbstractThere is a well‐documented relationship between development and other life‐history parameters among anthropoid primates. Smaller‐bodied anthropoids tend to mature more rapidly than do larger‐bodied species. Among anthropoids of similar body sizes, folivorous species tend to grow and mature more quickly than do frugivorous species, thus attaining adult body size at an earlier age. This pattern conforms to the expectations of Janson and van Schaik's “ecological risk aversion hypothesis,” which predicts that rates of growth and maturation should vary in inverse relation to the intensity of intraspecific feeding competition. According to the ecological risk aversion hypothesis (RAH), species experiencing high intraspecific feeding competition will grow and mature slowly to reduce the risk of mortality due to food shortages. Species experiencing low levels of intraspecific feeding competition will shorten the juvenile period to reduce the overall duration of this high‐risk portion of the life cycle. This paper focuses on development and maturation in lemurs. We show that folivorous lemurs (such as indriids) grow and mature more slowly than like‐sized frugivorous lemurs (e.g., most lemurids), but tend to exhibit faster dental development. Their dental developmental schedules are accelerated on an absolute scale, relative to craniofacial growth, and relative to particular life‐history landmarks, such as weaning. Dental development has a strong phylogenetic component: even those lemurids that consume substantial amounts of foliage have slower dental development than those indriids that consume substantial amounts of fruit. Implications of these results for the RAH are discussed, and an explanation for this hypothesis' failure to predict lemur growth schedules is offered. We propose that the differing developmental schedules of folivorous and frugivorous lemurs may reflect different solutions to the ecological problem of environmental instability: some rely on a strategy of low maternal input and slow returns, while others rely on a strategy of high maternal input and fast returns. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Analysis and significance of linear enamel hypoplasia in Plio‐Pleistocene hominins
Authors: Guatelli‐Steinberg Debbie 
Published: February 2004

AbstractThis study of linear enamel hypoplasia (LEH) in Plio‐Pleistocene hominins builds on a previous study (Guatelli‐Steinberg [2003] Am. J. Phys. Anthropol. 120:309–322) that focused on LEH in early South African hominins. The present study is more comprehensive, encompassing dental specimens of hominins from East Africa as well, including early Homo. As a developmental defect of enamel, LEH is used in anthropological contexts to reveal information about physiological stress. However, intrinsic aspects of enamel development and morphology can affect the expression of LEH, complicating efforts to understand the significance of these defects. In this study, the analysis of LEH is conducted with respect to enamel development and morphology. It is predicted that Paranthropus should have fewer defects on its canine teeth than Australopithecus and Homo, owing to its abbreviated period of enamel formation. This prediction is supported: Paranthropus has statistically significantly fewer defects per canine than Australopithecus and Homo. The previous study demonstrated that despite the wider spacing of perikymata on the teeth of South African Paranthropus, defects on the canine teeth of this genus were not wider than those of Australopithecus. A multiple linear regression analysis in that study, as well as a separate analysis in the present study, indicate that the number of perikymata within defects is a better predictor of defect width than perikymata spacing. In this study, it was additionally found that the average number of perikymata within Australopithecus defects is statistically significantly greater than it is in Paranthropus, thus explaining why Paranthropus defects are not wider than those of Australopithecus. The biological significance of this difference in the number of perikymata within the defects of Australopithecus and Paranthropus is considered in light of several factors, including: 1) the possibility that other intrinsic attributes of enamel morphology may be involved (specifically the faster extension rates of Paranthropus that result in shallower defects), 2) generic differences in the canalization of enamel development, and 3) generic differences in the duration of disruptions to enamel growth. Am J Phys Anthropol, 2003. © 2003 Wiley‐Liss, Inc.
Trends and issues in establishing interoperability among knowledge organization systems
Authors: Lei Zeng Marcia , Mai Chan Lois 
Published: February 2004

AbstractThis report analyzes the methodologies used in establishing interoperability among knowledge organization systems (KOS) such as controlled vocabularies and classification schemes that present the organized interpretation of knowledge structures. The development and trends of KOS are discussed with reference to the online era and the Internet era. Selected current projects and activities addressing KOS interoperability issues are reviewed in terms of the languages and structures involved. The methodological analysis encompasses both conventional and new methods that have proven to be widely accepted, including derivation/modeling, translation/adaptation, satellite and leaf node linking, direct mapping, co‐occurrence mapping, switching, linking through a temporary union list, and linking through a thesaurus server protocol. Methods used in link storage and management, as well as common issues regarding mapping and methodological options, are also presented. It is concluded that interoperability of KOS is an unavoidable issue and process in today's networked environment. There have been and will be many multilingual products and services, with many involving various structured systems. Results from recent efforts are encouraging.