969 resultados para Quantitative Trait, Heritable
Resumo:
BACKGROUND: Strategies to dissect phenotypic and genetic heterogeneity of major depressive disorder (MDD) have mainly relied on subphenotypes, such as age at onset (AAO) and recurrence/episodicity. Yet, evidence on whether these subphenotypes are familial or heritable is scarce. The aims of this study are to investigate the familiality of AAO and episode frequency in MDD and to assess the proportion of their variance explained by common single nucleotide polymorphisms (SNP heritability). METHOD: For investigating familiality, we used 691 families with 2-5 full siblings with recurrent MDD from the DeNt study. We fitted (square root) AAO and episode count in a linear and a negative binomial mixed model, respectively, with family as random effect and adjusting for sex, age and center. The strength of familiality was assessed with intraclass correlation coefficients (ICC). For estimating SNP heritabilities, we used 3468 unrelated MDD cases from the RADIANT and GSK Munich studies. After similarly adjusting for covariates, derived residuals were used with the GREML method in GCTA (genome-wide complex trait analysis) software. RESULTS: Significant familial clustering was found for both AAO (ICC = 0.28) and episodicity (ICC = 0.07). We calculated from respective ICC estimates the maximal additive heritability of AAO (0.56) and episodicity (0.15). SNP heritability of AAO was 0.17 (p = 0.04); analysis was underpowered for calculating SNP heritability of episodicity. CONCLUSIONS: AAO and episodicity aggregate in families to a moderate and small degree, respectively. AAO is under stronger additive genetic control than episodicity. Larger samples are needed to calculate the SNP heritability of episodicity. The described statistical framework could be useful in future analyses.
Resumo:
Identification and relative quantification of hundreds to thousands of proteins within complex biological samples have become realistic with the emergence of stable isotope labeling in combination with high throughput mass spectrometry. However, all current chemical approaches target a single amino acid functionality (most often lysine or cysteine) despite the fact that addressing two or more amino acid side chains would drastically increase quantifiable information as shown by in silico analysis in this study. Although the combination of existing approaches, e.g. ICAT with isotope-coded protein labeling, is analytically feasible, it implies high costs, and the combined application of two different chemistries (kits) may not be straightforward. Therefore, we describe here the development and validation of a new stable isotope-based quantitative proteomics approach, termed aniline benzoic acid labeling (ANIBAL), using a twin chemistry approach targeting two frequent amino acid functionalities, the carboxylic and amino groups. Two simple and inexpensive reagents, aniline and benzoic acid, in their (12)C and (13)C form with convenient mass peak spacing (6 Da) and without chromatographic discrimination or modification in fragmentation behavior, are used to modify carboxylic and amino groups at the protein level, resulting in an identical peptide bond-linked benzoyl modification for both reactions. The ANIBAL chemistry is simple and straightforward and is the first method that uses a (13)C-reagent for a general stable isotope labeling approach of carboxylic groups. In silico as well as in vitro analyses clearly revealed the increase in available quantifiable information using such a twin approach. ANIBAL was validated by means of model peptides and proteins with regard to the quality of the chemistry as well as the ionization behavior of the derivatized peptides. A milk fraction was used for dynamic range assessment of protein quantification, and a bacterial lysate was used for the evaluation of relative protein quantification in a complex sample in two different biological states
Resumo:
Because the magnitude of selection can vary between sexes and in space and time, sexually antagonistic selection is difficult to demonstrate. In a Swiss population of barn owls (Tyto alba), a heritable eumelanic colour trait (size of black spots on ventral feathers) was positively selected with respect to yearling survival only in females. It remains unclear whether the absence of negative selection in males is typical in this species. To tackle this issue indirectly, we measured the size of black spots in 1733 skin specimens collected by museums from 1816 to 2001 in seven European countries and in the Middle-East. The temporal change in spot size was sex- and country-specific. In males, spots became smaller particularly in three countries (Middle-East, Italy and Switzerland). In females, the size of spots increased significantly in two countries (UK and Spain) and decreased in two others (Germany and Switzerland). Because migration and phenotypic plasticity cannot explain these results, selection is the most likely cause. The weaker temporal change in spot size in females than males may be because of the combined effect of strong genetic correlation between the sexes and stronger negative selection in males than positive selection in females. We thus suggest that in the barn owl, spot size (or genetically correlated traits) is sexually antagonistically selected and that its pattern of selection may account for the maintenance of its variation and sexual dimorphism.
Resumo:
Quantitative approaches in ceramology are gaining ground in excavation reports, archaeological publications and thematic studies. Hence, a wide variety of methods are being used depending on the researchers' theoretical premise, the type of material which is examined, the context of discovery and the questions that are addressed. The round table that took place in Athens on November 2008 was intended to offer the participants the opportunity to present a selection of case studies on the basis of which methodological approaches were discussed. The aim was to define a set of guidelines for quantification that would prove to be of use to all researchers. Contents: 1) Introduction (Samuel Verdan); 2) Isthmia and beyond. How can quantification help the analysis of EIA sanctuary deposits? (Catherine Morgan); 3) Approaching aspects of cult practice and ethnicity in Early Iron Age Ephesos using quantitative analysis of a Protogeometric deposit from the Artemision (Michael Kerschner); 4) Development of a ceramic cultic assemblage: Analyzing pottery from Late Helladic IIIC through Late Geometric Kalapodi (Ivonne Kaiser, Laura-Concetta Rizzotto, Sara Strack); 5) 'Erfahrungsbericht' of application of different quantitative methods at Kalapodi (Sara Strack); 6) The Early Iron Age sanctuary at Olympia: counting sherds from the Pelopion excavations (1987-1996) (Birgitta Eder); 7) L'aire du pilier des Rhodiens à Delphes: Essai de quantification du mobilier (Jean-Marc Luce); 8) A new approach in ceramic statistical analyses: Pit 13 on Xeropolis at Lefkandi (David A. Mitchell, Irene S. Lemos); 9) Households and workshops at Early Iron Age Oropos: A quantitative approach of the fine, wheel-made pottery (Vicky Vlachou); 10) Counting sherds at Sindos: Pottery consumption and construction of identities in the Iron Age (Stefanos Gimatzidis); 11) Analyse quantitative du mobilier céramique des fouilles de Xombourgo à Ténos et le cas des supports de caisson (Jean-Sébastien Gros); 12) Defining a typology of pottery from Gortyn: The material from a pottery workshop pit, (Emanuela Santaniello); 13) Quantification of ceramics from Early Iron Age tombs (Antonis Kotsonas); 14) Quantitative analysis of the pottery from the Early Iron Age necropolis of Tsikalario on Naxos (Xenia Charalambidou); 15) Finding the Early Iron Age in field survey: Two case studies from Boeotia and Magnesia (Vladimir Stissi); 16) Pottery quantification: Some guidelines (Samuel Verdan)
Resumo:
Comprend : [Volume I. Bandeau au folio A : instruments de chimie, compas, sphère armillaires et globes terrestres, engins élévateurs.] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. 1 à la fin du volume II : instruments de chimie. Mortiers, passoirs, râpes etc...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. II à la fin du volume II : instruments de chimie. Entonnoirs, fioles, bouteilles, terrines de grès, grand cuvier, chaudron...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. III à la fin du volume II : instruments de chimie. Chauffeau, distillateurs, flacons, capsules de verre, cucurbite de verre ou de grès etc...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. IV à la fin du volume II : instruments de chimie. Chauffeau, distillateurs, flacons, alambic, cornue de verre tubulée, ballons de verre blanc ou de cristal, appareil ou colonne au mercure, matras à cul-plat dit Enfer de Boyle etc...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. VI à la fin du volume II : matériel de chimie. Cuve ou distillateur...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. VII à la fin du volume II : matériel de chimie. Cuves, cornue tubulée, fourneau et bombonesetc...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. VIII à la fin du volume II : matériel de chimie. Gazomètre.] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. IX à la fin du volume II Partie 1 : matériel de chimie. Distillateur. Cornues. Ballons. Serpentin. Lampe à esprit-de-vin à la Quinquet.] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. IX à la fin du volume II Partie 2 : matériel de chimie. Distillateur. Cornues. Ballons. Serpentin. Lampe à esprit-de-vin à la Quinquet.] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. X à la fin du volume II Partie 1 : matériel de chimie pour les fermentations vineuses et putrides. Distillateur. Cornues. Ballons. Grand matras, virole de cuivre etc...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. X à la fin du volume II Partie 2 : matériel de chimie pour les fermentations vineuses et putrides. Distillateur. Cornues. Ballons. Grand matras, virole de cuivre etc...] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. XI à la fin du volume II Partie 1 : matériel de chimie. Distillateur. Serpentin. Tube déliquescent. Cornues. Gazomètre.] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. XI à la fin du volume II Partie 2 : matériel de chimie. Distillateur. Serpentin. Tube déliquescent. Cornues. Gazomètre.] [Cote : R 17237-17238/Microfilm R 132983 et 122179] ; [pl. dépl. XIII à la fin du volume II : matériel de chimie. Fourneaux de réverbère. Bain de sable sous une couverture de terre cuite. Soufflet. Cornues.] [Cote : R 17237-17238/Microfilm R 132983 et 122179]
Resumo:
INTRODUCTION: Quantitative sensory testing (QST) is widely used in human research to investigate the integrity of the sensory function in patients with pain of neuropathic origin, or other causes such as low back pain. Reliability of QST has been evaluated on both sides of the face, hands and feet as well as on the trunk (Th3-L3). In order to apply these tests on other body-parts such as the lower lumbar spine, it is important first to establish reliability on healthy individuals. The aim of this study was to investigate intra-rater reliability of thermal QST in healthy adults, on two sites within the L5 dermatome of the lumbar spine and lower extremity. METHODS: Test-retest reliability of thermal QST was determined at the L5-level of the lumbar spine and in the same dermatome on the lower extremity in 30 healthy persons under 40 years of age. Results were analyzed using descriptive statistics and intraclass correlation coefficient (ICC). Values were compared to normative data, using Z-transformation. RESULTS: Mean intraindividual differences were small for cold and warm detection thresholds but larger for pain thresholds. ICC values showed excellent reliability for warm detection and heat pain threshold, good-to-excellent reliability for cold pain threshold and fair-to-excellent reliability for cold detection threshold. ICC had large ranges of confidence interval (95%). CONCLUSION: In healthy adults, thermal QST on the lumbar spine and lower extremity demonstrated fair-to-excellent test-retest reliability.
Resumo:
OBJECTIVE: Evaluation of the quantitative antibiogram as an epidemiological tool for the prospective typing of methicillin-resistant Staphylococcus aureus (MRSA), and comparison with ribotyping. METHODS: The method is based on the multivariate analysis of inhibition zone diameters of antibiotics in disk diffusion tests. Five antibiotics were used (erythromycin, clindamycin, cotrimoxazole, gentamicin, and ciprofloxacin). Ribotyping was performed using seven restriction enzymes (EcoRV, HindIII, KpnI, PstI, EcoRI, SfuI, and BamHI). SETTING: 1,000-bed tertiary university medical center. RESULTS: During a 1-year period, 31 patients were found to be infected or colonized with MRSA. Cluster analysis of antibiogram data showed nine distinct antibiotypes. Four antibiotypes were isolated from multiple patients (2, 4, 7, and 13, respectively). Five additional antibiotypes were isolated from the remaining five patients. When analyzed with respect to the epidemiological data, the method was found to be equivalent to ribotyping. Among 206 staff members who were screened, six were carriers of MRSA. Both typing methods identified concordant of MRSA types in staff members and in the patients under their care. CONCLUSIONS: The quantitative antibiogram was found to be equivalent to ribotyping as an epidemiological tool for typing of MRSA in our setting. Thus, this simple, rapid, and readily available method appears to be suitable for the prospective surveillance and control of MRSA for hospitals that do not have molecular typing facilities and in which MRSA isolates are not uniformly resistant or susceptible to the antibiotics tested.
Resumo:
An x-ray photoelectron spectroscopy (XPS) analysis of Nb/Al wedge bilayers, oxidized by both plasma and natural oxidation, is reported. The main goal is to show that the oxidation state¿i.e., O:(oxidize)Al ratio¿, structure and thickness of the surface oxide layer, as well as the thickness of the metallic Al leftover, as functions of the oxidation procedure, can be quantitatively evaluated from the XPS spectra. This is relevant to the detailed characterization of the insulating barriers in (magnetic) tunnel junctions