bluuebunny/crossref_metadata_2025_split huggingface dataset:
Correlation between quantitative traits and correlation between corresponding LOD scores: detection of pleiotropic effects
Authors: Ulgen Ayse , Han Zhihua , Li Wentian 
Published: December 2003

Abstract
Background
We address the question of whether statistical correlations among quantitative traits lead to correlation of linkage results of these traits. Five measured quantitative traits (total cholesterol, fasting glucose, HDL cholesterol, blood pressure, and triglycerides), and one derived quantitative trait (total cholesterol divided by the HDL cholesterol) are used for phenotype correlation studies. Four of them are used for linkage analysis.

Results
We show that although correlation among phenotypes partially reflects the correlation among linkage analysis results, the LOD-score correlations are on average low. The most significant peaks found by using different traits do not often overlap.

Conclusion
Studying covariances at specific locations in LOD scores may provide clues for further bivariate linkage analyses.
Risk factors for coronary artery disease and the use of neural networks to predict the presence or absence of high blood pressure
Authors: Falk Catherine T 
Published: December 2003

Abstract
Background
The Framingham Heart Study was initiated in 1948 as a long-term longitudinal study to identify risk factors associated with cardiovascular disease (CVD). Over the years the scope of the study has expanded to include offspring and other family members of the original cohort, marker data useful for gene mapping and information on other diseases. As a result, it is a rich resource for many areas of research going beyond the original goals. As part of the Genetic Analysis Workshop 13, we used data from the study to evaluate the ability of neural networks to use CVD risk factors as training data for predictions of normal and high blood pressure.

Results
Applying two different strategies to the coding of CVD risk data as risk factors (one longitudinal and one independent of time), we found that neural networks could not be trained to clearly separate individuals into normal and high blood pressure groups. When training was successful, validation was not, suggesting over-fitting of the model. When the number of parameters was reduced, training was not as good. An analysis of the input data showed that the neural networks were, in fact, finding consistent patterns, but that these patterns were not correlated with the presence or absence of high blood pressure.

Conclusion
Neural network analysis, applied to risk factors for CVD in the Framingham data, did not lead to a clear classification of individuals into groups with normal and high blood pressure. Thus, although high blood pressure may itself be a risk factor for CVD, it does not appear to be clearly predictable using observations from a set of other CVD risk factors.
Quantitative trait linkage analysis of longitudinal change in body weight
Authors: Golla Astrid , Strauch Konstantin , Dietter Johannes , Baur Max P 
Published: December 2003

AbstractOne of the great strengths of the Framingham Heart Study data, provided for the Genetic Analysis Workshop 13, is the long-term survey of phenotypic data. We used this unique data to create new phenotypes representing the pattern of longitudinal change of the provided phenotypes, especially systolic blood pressure and body weight. We performed a linear regression of body weight and systolic blood pressure on age and took the slopes as new phenotypes for quantitative trait linkage analysis using the SOLAR package. There was no evidence for heritability of systolic blood pressure change. Heritability was estimated as 0.15 for adult life "body weight change", measured as the regression slope, and "body weight gain" (including only individuals with a positive regression slope), and as 0.22 for body weight "change up to 50" (regression slope of weight on age up to an age of 50). With multipoint analysis, two regions on the long arm of chromosome 8 showed the highest LOD scores of 1.6 at 152 cM for "body weight change" and of >1.9 around location 102 cM for "body weight gain" and "change up to 50". The latter two LOD scores almost reach the threshold for suggestive linkage. We conclude that the chromosome 8 region may harbor a gene acting on long-term body weight regulation, thereby contributing to the development of the metabolic syndrome.
A model-integrated multipoint Bayesian analysis of hypertension in the Framingham Heart Study data finds little evidence of linkage
Authors: Logue Mark W , Goedken Rhinda J , Vieland Veronica J 
Published: December 2003

AbstractThis Genetic Analysis Workshop 13 contribution presents a linkage analysis of hypertension in the Framingham data based on the posterior probability of linkage, or PPL. We dichotomized the phenotype, coding individuals who had been treated for hypertension at any time, as well as those with repeated high blood pressure measurements, as affected. Here we use a new variation on the multipoint PPL that incorporates integration over the genetic model. PPLs were computed for chromosomes 1 through 5, 11, 14, and 17 and remained below the 2% assumed prior probability of linkage for 73% of the locations examined. The maximum PPL of 4.5% was obtained on chromosome 1 at 178 cM. Although this is more than twice the assumed prior probability of linkage, it is well below a level at which we would recommend committing substantial additional resources to molecular follow-up. While the PPL analysis of this data remains inconclusive, Bayesian methodology gives us a clear mechanism for using the information gained here in further studies.
Linkage analysis of systolic blood pressure: a score statistic and computer implementation
Authors: Wang Kai , Peng Yingwei 
Published: December 2003

AbstractA genome-wide linkage analysis was conducted on systolic blood pressure using a score statistic. The randomly selected Replicate 34 of the simulated data was used. The score statistic was applied to the sibships derived from the general pedigrees. An add-on R program to GENEHUNTER was developed for this analysis and is freely available.
Nonparametric longitudinal allele-sharing model
Authors: Kulle Bettina , Köhler Karola , Rosenberger Albert , Loesgen Sabine , Bickeböller Heike 
Published: December 2003

AbstractBasically no methods are available for the analysis of quantitative traits in longitudinal genetic epidemiological studies. We introduce a nonparametric factorial design for longitudinal data on independent sib pairs, modelling the phenotypic quadratic differences as the dependent variable. Factors are the number of alleles shared identically by descent (IBD) and the age categories at which the dependent variable is measured, allowing for dependence due to age. To identify a linked marker a rank statistic tests the influence of IBD group on phenotypic quadratic differences. No assumptions are made on normality or variances of the dependent variable. We apply our method to 71 sib pairs from the Framingham Heart Study data provided at the Genetic Analysis Workshop 13. For all 15 available markers on chromosome 17 we analyzed the influence on systolic blood pressure. In addition, different selection strategies to sample from the whole data are discussed.
Detecting susceptibility genes in case-control studies using set association
Authors: Kim Sung , Zhang Kui , Sun Fengzhu 
Published: December 2003

AbstractComplex diseases are generally caused by intricate interactions of multiple genes and environmental factors. Most available linkage and association methods are developed to identify individual susceptibility genes assuming a simple disease model blind to any possible gene - gene and gene - environmental interactions. We used a set association method that uses single-nucleotide polymorphism markers to locate genetic variation responsible for complex diseases in which multiple genes are involved. Here we extended the set association method from bi-allelic to multiallelic markers. In addition, we studied the type I error rates and power for both approaches using simulations based on the coalescent process. Both bi-allelic set association (BSA) and multiallelic set association (MSA) tests have the correct type I error rates. In addition, BSA and MSA can have more power than individual marker analysis when multiple genes are involved in a complex disease. We applied the MSA approach to the simulated data sets from Genetic Analysis Workshop 13. High cholesterol level was used as the definitive phenotype for a disease. MSA failed to detect markers with significant linkage disequilibrium with genes responsible for cholesterol level. This is due to the wide spacing between the markers and the lack of association between the marker loci and the simulated phenotype.
Comparison between two analytic strategies to detect linkage to obesity with genetically determined age of onset: the Framingham Heart Study
Authors: Engelman Corinne D , Brady Heather L , Baron Anna E , Norris Jill M 
Published: December 2003

Abstract
Background
Genes have been found to influence the age of onset of several diseases and traits. The occurrence of many chronic diseases, obesity included, appears to be strongly age-dependent. However, an analysis of potential age of onset genes for obesity has yet to be reported. There are at least two analytic methods for determining an age of onset gene. The first is to consider a person affected if they possess the trait before a certain age (an early age of onset phenotype). The second is to define the phenotype based on the residual from a survival analysis.

Results
No regions provided evidence for linkage at the more stringent level of p < 0.001. However, five regions showed consistent suggestive evidence for linkage (one marker with p < 0.01 and a second contiguous marker at p < 0.05). These regions were chromosome 1 (280–294 cM) and chromosome 16 (56–64 cM) for overweight using the survival analysis residual method and chromosome 13 (102–122 cM), chromosome 17 (127–138 cM), and chromosome 19 (23–47 cM) for obese before age 35.

Conclusion
Only one region (chromosome 19 at 23–47 cM) showed somewhat consistent results between the two analytic methods. Potential reasons for inconsistent results between the two methods, as well as their strengths and weaknesses, are discussed. The use of both methods together to explore the genetics of the age of onset of a trait may prove to be beneficial in determining a gene that is linked only to an early age of onset phenotype versus one that determines age of onset through all age groups.
Linkage mapping of total cholesterol level in a young cohort via nonparametric regression
Authors: Ghosh Saurabh , Bertelsen Sarah , Reich Theodore 
Published: December 2003

Abstract
Background
Compared to model-based approaches, nonparametric methods for quantitative trait loci mapping are more robust to deviations in distributional assumptions. In this study, we modify a nonparametric regression method and the "contrast function"- based regression method to analyze total cholesterol level in the younger cohort (the offspring generation) of the Genetic Analysis Workshop 13 simulated data set.

Results
We obtained significant evidence of linkage near four of the six non-sex-specific genes in at least 30% of the replicates.

Conclusions
The proposed nonparametric method seems to be a powerful robust alternative to distribution-based methods.
Familial aggregation of components of the multiple metabolic syndrome in the Framingham Heart and Offspring Cohorts: Genetic Analysis Workshop Problem 1
Authors: Lee Kristine E , Klein Barbara EK , Klein Ronald 
Published: December 2003

Abstract
Background
The multiple metabolic syndrome is defined by a clustering of risk factors for cardiovascular disease. We sought to evaluate the familial correlations of the components of the syndrome using data from the Framingham Heart Study original and offspring cohorts as provided for the Genetic Analysis Workshop 13. Measures of plasma cholesterol (total and HDL), body mass index (BMI), and systolic blood pressure were used from selected calendar years of exams. Familial correlations were calculated using FCOR in S.A.G.E.

Results
The sibling correlations were relatively high for all measures and exams, from 0.17 for systolic blood pressure to 0.27 for HDL cholesterol. The parent-child correlations were very similar, except for systolic blood pressure. The avuncular correlations were much smaller and the cousin correlations were even smaller. For HDL cholesterol the avuncular correlation was half the sibling correlation and the cousin correlation was half that again. Spousal correlations ranged from 0.07 for systolic blood pressure to 0.34 for BMI. Correlations were somewhat lower from 1984 to 1987 examinations than from 1971 to 1975 examinations, except for spousal correlations for systolic blood pressure and BMI.

Conclusion
The results of the family pair correlations are suggestive of genetic determinants of lipid levels and BMI. These components have been shown to be predictive of cardiovascular disease as well as diabetes. Genes in common with each of the components might also influence development of cardiovascular disease and diabetes, both complex diseases.
Non-attendance rates among patients attending different grades of psychiatrist and a clinical psychologist within a community mental health clinic
Authors: McIvor Ronan , Ek Emma , Carson Jerome 
Published: December 2003

Aims and MethodTo examine non-attendance rates in patients seen by psychiatrists of different grades and a consultant clinical psychologist. Rates were obtained from the patient administration system over a 21-month period.ResultsA planned linear contrast showed that the clinical psychologist's patients had the lowest rate of non-attendance (7.8%), followed in turn by those of consultant psychiatrists (18.6%), specialist registrars (34%) and senior house officers (37.5%).Clinical ImplicationsFactors such as continuity of care, perceived clinical competence and the provision of non-medical interventions might have an impact on attendance rates. These results indicate the difficulty in reconciling the training needs of junior doctors with the provision of continuity and quality of care for patients. Reminder systems for people seeing training doctors might be an effective way of reducing non-attendance rates.
Using evidence-based dissemination and implementation strategies to improve routine communication between general practitioners and community mental health teams
Authors: White Tracy , Marriott Sarah 
Published: December 2003

Aims and MethodTo improve the quality of written communication between general practitioners (GPs) and community mental health team (CMHT) members concerning patients newly referred to two inner-city CMHTs. Following a benchmark audit of a random sample of referral and assessment letters, locally agreed good practice protocols were shared widely, accompanied by a dissemination and implementation strategy.ResultsSignificant improvements occurred in both GP and CMHT letters; these were most dramatic after 1 year, but tailed off considerably in the second year despite continued efforts to implement the protocols' standards.Clinical ImplicationsPlanned dissemination and implementation strategies can help to improve routine clinical communication between CMHTs and GPs through the use of good practice protocols, thus improving shared working between primary and secondary care providers.
The amygdala and sexual drive: Insights from temporal lobe epilepsy surgery
Authors: Baird Amee D. , Wilson Sarah J. , Bladin Peter F. , Saling Michael M. , Reutens David C. 
Published: December 2003

AbstractThe aim of this study was to explore the relationship between the amygdala and human sex drive. We compared amygdalar volume in groups of patients with or without sexual changes after temporal lobe resection and in age‐matched neurologically normal subjects. Forty‐five patients with intractable temporal lobe epilepsy who underwent surgical resection in the Comprehensive Epilepsy Program at the Austin and Repatriation Medical Centre completed a semistructured interview and questionnaire relating to sexual outcome after surgery. Volumetric analyses of both amygdalae were conducted on the patients' preoperative T1‐weighted magnetic resonance imaging scans and those of 46 neurologically normal controls. Patients who reported a postoperative sexual increase had a significantly larger amygdalar volume contralateral to the site of their resective surgery than patients with a sexual decrease or no change than control subjects. There was a significant positive relationship between contralateral amygdalar volume and the maximum degree of sexual change. We have demonstrated a relationship between contralateral amygdalar volume and sexual outcome in patients undergoing temporal lobe resection. This finding provides evidence for an important role of the amygdala in regulating human sexual behavior. A larger contralateral amygdala may contribute to the expression of increased or improved sexuality after temporal lobe resection.
The α‐Addition of Immonium Ions and Anions to Isonitriles Accompanied by Secondary Reactions
Authors: Ugi Ivar 
Published: December 2003

AbstractThe α‐addition of immonium ions and anions (OH−, SeH−, S2O3 2−, N3− NCO− NCS−, RCO2 −, ROCO2−) to isonitriles, accompanied by secondary reactions provides a means for the one‐stage synthesis of organic nitrogen compounds starting with two to five different components. Thus, by the condensations of amines (ammonia, primary, and secondary aliphatic and aromatic amines, hydrazines) and aldehydes or ketones with isonitriles and acids, a number of α‐aminocarboxylic acid amides, thioamides, selenoamides, 1,5‐disubstituted retrazoles, hydantoin imides, thiohydantoin imides, α‐acylamino carboxylic acid amides, oligopeptide derivatives, β‐lactams, derivatives of penicillanic acid, urethanes, diacylimides, and various hydrazine derivatives, can be prepared. The reactions are easily carried out and take place under mild conditions. Yields of more than 90% are frequently encountered.
The Oxidation of Olefins with Palladium Chloride Catalysts
Authors: Smidt Juergen , Hafner W. , Jira R. , Sieber R. , Sedlmeier J. , Sabel A. 
Published: December 2003

AbstractThe oxidation of olefins to carbonyl compounds with palladium compounds, especially the oxidation of ethylene to acetaldehyde, is at present carried out on a technical scale. The reaction takes place via a palladium‐olefin complex, the formation of which is inhibited by halide ions. Hydrolysis to the carbonyl compound is inhibited by hydrogen ions. The knowledge gained by studying the reaction of olefins with pure solutions of palladium salts allows important conclusions to be drawn concerning the action of technical catalyst solutions containing copper and palladium chloride.
Organic N‐Sulfinyl Compounds
Authors: Kresze G. , Maschke A. , Albrecht R. , Bederke K. , Patzschke H. P. , Smalla H. , Trede A. 
Published: December 2003

AbstractThe nitrogen‐sulpher linkage in compounds of the type RNSO is capable of undergoing addition. For N‐sulfinylsulfonamides in particular, the reactivity is increased so greatly that new type of compounds may be obtained by cyclic addition or migration of the sulfinyl group.
Recent Studies on Fluroalkyls and Related Compounds
Authors: Emeléus H. J. 
Published: December 2003

AbstractThe discovery of trifluorodomethane some 14 years ago opened up a wide range of possibilitis for the preparation of new organometallic and organometalloidal compounds containing fluroalkyl radicals. Simultaneously it offered for the first time the possibility of enamining and explaining the differences between such compounds and their alkyl or aryl analogues. A brief recaptiulation of some earlier results is given, followed by a review of recent progress, espically in the chemistry of fluoroalkyls of sulphur and nitrogen as well as certain of the metallic elememts.
The Stereochemistry of Organosilicon Compounds
Authors: Sommer L. H. 
Published: December 2003

AbstractOptically active organosilicon compounds having reactive functional groups bonded to asymmetric silicon have recently been synthesized and their study has revealed that many organosilicon reactions are stereospecific.The present paper deals with the problem of correlation of configuration for six key compounds containing the α‐naphthylphenylmethylsityl group. The solution of this problem by the use of chemical and physical methods is described. In addition the stereochemistry of more than twenty stereospecific reactions of silicon is considered. The probable fundamental relationships between organosilicon stereochemistry and the reaction mechanisms of monofunctional R3SiY compounds are discussed in a preliminary way.
A New Type of Converter for Ammonia Synthesis
Authors: Hinrichs H. , Niedetzky J. 
Published: December 2003

AbstractA comparison of known types of converters used for the synthesis of ammonia, and an evaluation of their respective advantages and disadvantages are given. A new type of converter is described, in which catalyst contact beds alternate with heat exchange regions. This arrangement permits both close control of the operating temperature at or near optimum conditions and utilization of the excess heat of reaction for preheating the reaction gases.
Chemical Reactions and Mircotacticity of High Ploymers
Authors: Smets G. 
Published: December 2003

AbstractThe reaction course and kinetics of interfunctional reactions with polymers are determined by the microtacticity of the polymer chain. Among other things, this is shown by the hydrolysis of ester and amide polymers of different tacticities, and by ring‐closure reactions (anhydride formation). The physical and physico‐chemical properties are also governed by the tacticity.
The Chemical Basis of Ancient Greek Vase Painting
Authors: Hofmann U. 
Published: December 2003

AbstractIn classical times, black‐ and red‐figured vases were an important Greek export article, balancing payments resulting from grain import. This was especially true in Athens. The red pigment was always Fe2O3, and the black Fe3O4. A carefully chosen clay containing iron, which could be formed by hand with a simple potter's wheel, was used for thr vessel. The fired ceramic usually provided the red of the vessels. For the black painting, and for the occasionally used red painting (Intentional Red), a layer of finely elutriated clay was painted on. The vessel was fired between 800 and 900 °C, first under oxidizing conditions, then under reducing, and finally again under oxidizing conditions. From the reproductions of Adam Winter it may be concluded that an illitic clay was used for the black figure painting. During the reductive firing, the painted layer became impervious by sintering owing to the K2O content of the clay. A kaolinitic clay, poorer in K2O, served for the red painting. This clay remained porous on reduction and was reoxidized, like the ceramic of the vessel, in the second oxidation. For the terra sigillata of the Romans, the entire surface of the vessel was covered with a clay slip, which on firing under oxidizing conditions at higher temperatures, gave a hard surface, so that the vessel; could be used as table utensils.
Small Rings with Carbon‐Carbon Triple Bonds
Authors: Wittig G. 
Published: December 2003

AbstractOver the last few years, numerous hydrocarbon ring structures with triple bonds have been studied, e.g. cycloalkynes, heterocyclic compounds with triple bonds, and particularly dehydrobenzene (better known in the Anglo‐American literature as benzyne). Dehydrobenzene has not yet isolated. The prospects of doing so are discussed.