Search results for "6a"
showing 10 items of 139 documents
Genome-wide association data provide further support for an association between 5-HTTLPR and major depressive disorder.
2013
Abstract Background Dysfunctions of serotonergic neurotransmission are supposed to be involved in the pathogenesis of psychiatric disorders such as major depressive disorder (MDD). The concentration of serotonin (5-hydroxytryptamine, 5-HT) in the synaptic cleft is essentially regulated by the 5-HT transporter (5-HTT). A length polymorphism repeat in the 5-HTT promoter region, termed 5-HTTLPR, has been commonly investigated for an association with psychiatric disorders. Methods Genotyping of the 5-HTTLPR is time-consuming and technically challenging. Recently, a two-SNP haplotype was identified that tags the 5-HTTLPR at r 2 =0.775. This allows extraction of 5-HTTLPR genotype information from…
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
2003
Multiple epiphyseal dysplasia (MED) is a generalised skeletal dysplasia that although relatively mild is associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. In the past, the disorder was subdivided into the milder Ribbing type, usually with flattened epiphyses,1 and the more severe Fairbank type with round epiphyses,2 but many cases were not classifiable as clearly either type.3 MED can be caused by mutations in at least six separate genes: COMP ,4–7 collagen IX ( COL9A1 , COL9A2 , and COL9A3 ),8–13 matrilin 3 ( MATN3 ),15 and the sulphate transporter, DTDST ( DTDST/SLC26A2 ). We have previously repor…
Evidences of +896 A/G TLR4 Polymorphism as an Indicative of Prevalence of Complications in T2DM Patients
2014
T2DM is today considered as world-wide health problem, with complications responsible of an enhanced mortality and morbidity. Thus, new strategies for its prevention and therapy are necessary. For this reason, the research interest has focused its attention on TLR4 and its polymorphisms, particularly the rs4986790. However, no conclusive findings have been reported until now about the role of this polymorphism in development of T2DM and its complications, even if a recent meta-analysis showed its T2DM association in Caucasians. In this study, we sought to evaluate the weight of rs4986790 polymorphism in the risk of the major T2DM complications, including 367 T2DM patients complicated for th…
About Quotient Orders and Ordering Sequences
2017
Summary In preparation for the formalization in Mizar [4] of lotteries as given in [14], this article closes some gaps in the Mizar Mathematical Library (MML) regarding relational structures. The quotient order is introduced by the equivalence relation identifying two elements x, y of a preorder as equivalent if x ⩽ y and y ⩽ x. This concept is known (see e.g. chapter 5 of [19]) and was first introduced into the MML in [13] and that work is incorporated here. Furthermore given a set A, partition D of A and a finite-support function f : A → ℝ, a function Σ f : D → ℝ, Σ f (X)= ∑ x∈X f(x) can be defined as some kind of natural “restriction” from f to D. The first main result of this article ca…
Normal forms of hyperbolic logarithmic transseries
2021
We find the normal forms of hyperbolic logarithmic transseries with respect to parabolic logarithmic normalizing changes of variables. We provide a necessary and sufficient condition on such transseries for the normal form to be linear. The normalizing transformations are obtained via fixed point theorems, and are given algorithmically, as limits of Picard sequences in appropriate topologies.
The Calderón problem for the fractional Schrödinger equation
2020
We show global uniqueness in an inverse problem for the fractional Schr\"odinger equation: an unknown potential in a bounded domain is uniquely determined by exterior measurements of solutions. We also show global uniqueness in the partial data problem where the measurements are taken in arbitrary open, possibly disjoint, subsets of the exterior. The results apply in any dimension $\geq 2$ and are based on a strong approximation property of the fractional equation that extends earlier work. This special feature of the nonlocal equation renders the analysis of related inverse problems radically different from the traditional Calder\'on problem.
A rapid method of screening ceramic artefacts to reject unlikely hypotheses of provenance
2019
This study was aimed at testing a cost‐effective method based on comparing the rare earth element patterns in artefacts of known origin with patterns of potential raw materials, thus allowing the restriction/exclusion of working hypotheses on provenance, and consequently a better focus of research funding. The method targets ceramics/materials of terrigenous origin. Lanthanoids and yttrium patterns were determined in 26 wine amphorae that had a well‐established geographical origin from the Nuovo Mercato Testaccio in Rome, and these patterns were compared to plausible terrigenous materials from various ancient Roman regions. The point was not to pinpoint the origins of the material, but rath…
Bayesian hierarchical models for analysing the spatial distribution of bioclimatic indices
2017
A methodological approach for modelling the spatial distribution of bioclimatic indices is proposed in this paper. The value of the bioclimatic index is modelled with a hierarchical Bayesian model that incorporates both structured and unstructured random effects. Selection of prior distributions is also discussed in order to better incorporate any possible prior knowledge about the parameters that could refer to the particular characteristics of bioclimatic indices. MCMC methods and distributed programming are used to obtain an approximation of the posterior distribution of the parameters and also the posterior predictive distribution of the indices. One main outcome of the proposal is the …
Influence of Material-Related Aspectsof Additive and Subtractive Ti-6Al-4VManufacturing on Energy Demandand Carbon Dioxide Emissions
2017
The additive manufacturing of metal parts represents a promising process that could beused alongside traditional manufacturing methods. The research scenario in this field isstill largely unexplored, as far as the technological solutions adopted to integrate differentprocesses are concerned and in terms of environmental and economic impact assessment.In this article, an electron beam melting (EBM) process and a machining process have beenanalyzed and compared using a cradle-to-grave life cycle–based approach. The productionof components made of the Ti-6Al-4V alloy has been assumed as a case study. Theproposed methodology is able to account for all of the main factors of influence on energydem…
Oxysterols: Influence on plasma membrane rafts microdomains and development of ocular diseases
2015
Oxidation of cholesterol into oxysterols is a major way of elimination of cholesterol from the liver and extrahepatic tissues, including the brain and the retina. Oxysterols are involved in various cellular processes. Numerous links have been established between oxysterols and several disorders such as neurodegenerative pathologies, retinopathies and atherosclerosis. Different components of the lipid layer such as sphingolipids, sterols and proteins participate to membrane fluidity and forme lipid rafts microdomains. Few data are available on the links between lipids rafts and oxysterols. The purpose of this review is to suggest the potential role of lipid rafts microdomains in the developm…