606 resultados para Tuomi, Tapio J
Resumo:
In this article, physical layer awareness in access, core, and metro networks is addressed, and a Physical Layer Aware Network Architecture Framework for the Future Internet is presented and discussed, as proposed within the framework of the European ICT Project 4WARD. Current limitations and shortcomings of the Internet architecture are driving research trends at a global scale toward a novel, secure, and flexible architecture. This Future Internet architecture must allow for the co-existence and cooperation of multiple networks on common platforms, through the virtualization of network resources. Possible solutions embrace a full range of technologies, from fiber backbones to wireless access networks. The virtualization of physical networking resources will enhance the possibility of handling different profiles, while providing the impression of mutual isolation. This abstraction strategy implies the use of well elaborated mechanisms in order to deal with channel impairments and requirements, in both wireless (access) and optical (core) environments.
Resumo:
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SSPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9 × 10⁻⁹ to P = 1.8 × 10⁻⁴⁰) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9 × 10⁻³ to P = 1.2 × 10⁻&supl;³). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
Resumo:
Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a meta-analysis of genome-wide association studies in 39,883 individuals of European ancestry to identify genes associated with metabolic disease. We identified 8 novel loci associated with adiponectin levels and confirmed 2 previously reported loci (P = 4.5×10(-8)-1.2×10(-43)). Using a novel method to combine data across ethnicities (N = 4,232 African Americans, N = 1,776 Asians, and N = 29,347 Europeans), we identified two additional novel loci. Expression analyses of 436 human adipocyte samples revealed that mRNA levels of 18 genes at candidate regions were associated with adiponectin concentrations after accounting for multiple testing (p<3×10(-4)). We next developed a multi-SNP genotypic risk score to test the association of adiponectin decreasing risk alleles on metabolic traits and diseases using consortia-level meta-analytic data. This risk score was associated with increased risk of T2D (p = 4.3×10(-3), n = 22,044), increased triglycerides (p = 2.6×10(-14), n = 93,440), increased waist-to-hip ratio (p = 1.8×10(-5), n = 77,167), increased glucose two hours post oral glucose tolerance testing (p = 4.4×10(-3), n = 15,234), increased fasting insulin (p = 0.015, n = 48,238), but with lower in HDL-cholesterol concentrations (p = 4.5×10(-13), n = 96,748) and decreased BMI (p = 1.4×10(-4), n = 121,335). These findings identify novel genetic determinants of adiponectin levels, which, taken together, influence risk of T2D and markers of insulin resistance.
Resumo:
To identify previously unknown genetic loci associated with fasting glucose concentrations, we examined the leading association signals in ten genome-wide association scans involving a total of 36,610 individuals of European descent. Variants in the gene encoding melatonin receptor 1B (MTNR1B) were consistently associated with fasting glucose across all ten studies. The strongest signal was observed at rs10830963, where each G allele (frequency 0.30 in HapMap CEU) was associated with an increase of 0.07 (95% CI = 0.06-0.08) mmol/l in fasting glucose levels (P = 3.2 x 10(-50)) and reduced beta-cell function as measured by homeostasis model assessment (HOMA-B, P = 1.1 x 10(-15)). The same allele was associated with an increased risk of type 2 diabetes (odds ratio = 1.09 (1.05-1.12), per G allele P = 3.3 x 10(-7)) in a meta-analysis of 13 case-control studies totaling 18,236 cases and 64,453 controls. Our analyses also confirm previous associations of fasting glucose with variants at the G6PC2 (rs560887, P = 1.1 x 10(-57)) and GCK (rs4607517, P = 1.0 x 10(-25)) loci.
Resumo:
African Americans are disproportionately affected by type 2 diabetes (T2DM) yet few studies have examined T2DM using genome-wide association approaches in this ethnicity. The aim of this study was to identify genes associated with T2DM in the African American population. We performed a Genome Wide Association Study (GWAS) using the Affymetrix 6.0 array in 965 African-American cases with T2DM and end-stage renal disease (T2DM-ESRD) and 1029 population-based controls. The most significant SNPs (n = 550 independent loci) were genotyped in a replication cohort and 122 SNPs (n = 98 independent loci) were further tested through genotyping three additional validation cohorts followed by meta-analysis in all five cohorts totaling 3,132 cases and 3,317 controls. Twelve SNPs had evidence of association in the GWAS (P<0.0071), were directionally consistent in the Replication cohort and were associated with T2DM in subjects without nephropathy (P<0.05). Meta-analysis in all cases and controls revealed a single SNP reaching genome-wide significance (P<2.5×10(-8)). SNP rs7560163 (P = 7.0×10(-9), OR (95% CI) = 0.75 (0.67-0.84)) is located intergenically between RND3 and RBM43. Four additional loci (rs7542900, rs4659485, rs2722769 and rs7107217) were associated with T2DM (P<0.05) and reached more nominal levels of significance (P<2.5×10(-5)) in the overall analysis and may represent novel loci that contribute to T2DM. We have identified novel T2DM-susceptibility variants in the African-American population. Notably, T2DM risk was associated with the major allele and implies an interesting genetic architecture in this population. These results suggest that multiple loci underlie T2DM susceptibility in the African-American population and that these loci are distinct from those identified in other ethnic populations.
Resumo:
Työn tarkoituksena oli tuottaa Malmin sairaalan päivystyspoliklinikan henkilökunnan käyttöön päihtyneen potilaan jatkohoitoon siirtämisen kriteeristö, jonka avulla voidaan arvioida päihtyneen potilaan tilannetta ja jatkohoitoon siirtämistä sekä tukea jatkohoitoon siirtämisen yhteydessä annettavaa potilasraporttia. Päihtyneen potilaan jatkohoitoon siirtämisen kriteerit muodostuivat kirjallisuuskatsauksen sekä Malmin sairaalan asiantuntijatyöryhmän avulla. Kirjallisuuskatsaukseen käytettiin pääosin vuosina 1996-2005 julkaistua materiaalia koskien päivystyspolikliinista hoitotyötä sekä päihtyneen potilaan hoitoa tässä ympäristössä. Kirjallisen materiaalin pääpainon pyrin pitämään maksimissaan viiden vuoden ikäisessä materiaalissa. Kirjallisuuskatsauksen mukaan päihteidenkäyttö kasvoi maassamme alkoholin osalta runsaasti vuoden 2003 suoritetun alkoholin veronalennuksen jälkeen kasvattaen siitä seuraavia terveyshaittoja sekä kuormittaen sosiaali- ja terveysalan palveluita. Huumausaineiden käyttäjien määrä pysyi tutkimuksien mukaan ennallaan koko 2000-luvun ajan, tosin ongelmakäyttö lisääntyi viime vuosina. Akuuttitilanteiden hoitoon liittyvät hoitojaksot ovat lisääntyneet, kuten myös niistä seuraavat sairaalahoitojaksot. Kirjallisuuskatsauksen mukaan yleisimpinä päihtyneiden potilaiden sekä päihteiden suurkuluttajien hoitoonhakeutumisen syinä olivat elimelliset sairaudet sekä niiden paheneminen, voimakas päihtymystila tai päihdemyrkytys, vieroitusoireet, vaikeat infektiot, psyykkiset ongelmat ja mielenterveyden häiriöt. Myös tapaturmat olivat merkittäviä hoitoon hakeutumisen syitä. Kehitetyn kriteeristön tarkoituksena on myös auttaa henkilökuntaa arvioimaan potilaan hoidon tuloksellisuutta ja ennakoimaan sen tarvetta tulevaisuudessa. Tulevan hoidon tarpeen arvointi auttaa määrittelemään minkälaiselle osastolle potilas olisi tarkoituksenmukaisinta siirtää jatkohoitoa ajatellen. Ennen potilaan siirron toteuttamista asianmukainen kriteeristö auttaa henkilökuntaa arvioimaan ovatko potilaan tila, suoritetut toimenpiteet ja potilaan ennuste sellaiset että hänet voidaan siirtää jatkohoidosta vastaavalle osastolle. Tavoitteena on myös helpottaa Malmin sairaalan päivystyspoliklinikalla työskentelevän henkilökunnan työtä, sekä lisätä joustavuutta päihtyneen potilaan jatkohoitoon siirtymisessä ja sen järjestelyissä.
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Resumo:
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.
Resumo:
Recent genome-wide association studies have described many loci implicated in type 2 diabetes (T2D) pathophysiology and β-cell dysfunction but have contributed little to the understanding of the genetic basis of insulin resistance. We hypothesized that genes implicated in insulin resistance pathways might be uncovered by accounting for differences in body mass index (BMI) and potential interactions between BMI and genetic variants. We applied a joint meta-analysis approach to test associations with fasting insulin and glucose on a genome-wide scale. We present six previously unknown loci associated with fasting insulin at P < 5 × 10(-8) in combined discovery and follow-up analyses of 52 studies comprising up to 96,496 non-diabetic individuals. Risk variants were associated with higher triglyceride and lower high-density lipoprotein (HDL) cholesterol levels, suggesting a role for these loci in insulin resistance pathways. The discovery of these loci will aid further characterization of the role of insulin resistance in T2D pathophysiology.
Resumo:
Tapio Markkanen
Resumo:
Timo Tuomi
Resumo:
Jarmo Rintasalo, Pentti Tapio