105 research outputs found

    Ghrelin in Diabetes and Metabolic Syndrome

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    Metabolic syndrome is a cluster of related risk factors for cardiovascular disease, type 2 diabetes and liver disease. Obesity, which has become a global public health problem, is one of the major risk factors for development of metabolic syndrome and type 2 diabetes. Obesity is a complex disease, caused by the interplay between environmental and genetic factors. Ghrelin is one of the circulating peptides, which stimulates appetite and regulates energy balance, and thus is one of the candidate genes for obesity and T2DM. During the last years both basic research and genetic association studies have revealed association between the ghrelin gene and obesity, metabolic syndrome or type 2 diabete

    Psalmit : Kirjanoppinut käännös seurakunnan käyttöön

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    The effect of fibrin sealant on bioactive glass S53P4 particles – pH impact and dissolution characteristics in vitro

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    Fibrin glue, a two-component tissue adhesive, has a range of clinical indications. Bioactive glass (BG) S53P4 has been approved for clinical use in several craniomaxillofacial and orthopedic applications. Although sometimes used simultaneously, there is no data available regarding the possible interaction of these two biocompatible substances. In this in vitro study, using a BG particle concentration of 4 mg/ml, a 0.4 unit pH increment (p<0.001) was observed in simulated body fluid (SBF) after a 7-day incubation period. The addition of fibrin glue (0.13 g, SD 0.04; or 3.7 mg/ml) on top of the BG particles raised further the pH by 0.5 units (p<0.001). The difference between these groups was statistically significant (p=0.008). With a BG concentration of 25 mg/ml and a fibrin glue concentration of 18 mg/ml during a 14-day incubation period, a pH increment of 0.6 units and SBF ion concentration change of Ca, K, Mg, Na, P and Si ions was seen. Moreover, a penetration depth between 4 and 6 mm was observed when fibrin glue was applied on top of a bed of BG particles. Conclusions: Fibrin glue is not likely to have a distracting effect on BG-induced pH increase of the SBF although it might delay early BG surface reactions based on ion concentration measurements. Fibrin glue penetrated to the interparticle space to some extent, binding the particles together for easy clinical use of BG. </p

    Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene

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    We report a novel case of epidermolysis bullosa simplex with severe mucous membrane involvement and mutations in the plectin gene (PLEC1). The patient suffered from extensive blistering of the skin and oral and laryngeal mucous membranes. Electron microscopy of a lesional skin biopsy showed cleft formation within the basal cell layer of the epidermis. Antigen mapping displayed entirely negative staining for plectin, a large (>500 kDa) multifunctional adhesion protein present in hemidesmosomes of the basal keratinocytes. Mutation analysis revealed compound heterozygous, previously undisclosed nonsense mutations, Q1713X and R2351X, of paternal and maternal origin, respectively, within exon 32 of PLEC1. Based on earlier reports, plectin deficiency is associated with late onset muscular dystrophy in patients with epidermolysis bullosa. No signs of muscle weakness have been observed during the 4 y follow-up of our patient. This case illustrates the fact that molecular pathological analyses have prognostic implications in identification and evaluation of patients who appear to be at risk for development of muscular dystrophy later in life

    Ruoka- ja luonnonvaratilastojen e-vuosikirja 2019 : Tilastoja maataloudesta, metsäsektorilta sekä kala- ja riistataloudesta

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    Luonnonvarakeskus (Luke) tuottaa valtaosan Suomen maa- ja elintarviketaloutta, metsäsektoria sekä riista- ja kalataloutta koskevista tilastoista. Ruoka- ja luonnonvaratilastojen e-vuosikirjaan on koottu niiden keskeiset tiedot tuoreimpaan tilastovuoteen 2018 keskittyen. Tänä vuonna mukaan on otettu lyhyt katsaus alan kansainvälisiin tilastolähteisiin. Luken tilastollinen e-vuosikirja on vapaasti ladattavissa Luonnonvarakeskuksen tilastoverkkopalvelussa stat.luke.fi. Linkit verkkopalveluun ja tilastotietokannan taulukoihin takaavat käyttäjälle ajantasaiset tausta- ja tilastotiedot. Ohjeet tilastotietokannan käyttöön löytyvät verkkopalvelustamme. Lukija voi halutessaan tilata itselleen myös painetun version julkaisusta Luonnonvarakeskuksen verkkokaupasta. Kirja julkaistaan englanninkielisenä keväällä 2020.201

    Association of ADIPOR2 gene variants with cardiovascular disease and type 2 diabetes risk in individuals with impaired glucose tolerance: the Finnish Diabetes Prevention Study

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    <p>Abstract</p> <p>Background</p> <p>Adiponectin is an adipokine with insulin-sensitising and anti-atherogenic effects. Two receptors for adiponectin, ADIPOR1 and ADIPOR2, have been characterized that mediate effects of adiponectin in various tissues. We examined whether genetic variation in <it>ADIPOR2 </it>predicts the development of cardiovascular disease (CVD) and/or Type 2 Diabetes (T2DM) in individuals with impaired glucose tolerance (IGT) participating the Finnish Diabetes Prevention Study (DPS).</p> <p>Methods</p> <p>CVD morbidity and mortality data were collected during a median follow-up of 10.2 years (range 1-13 years) and conversion from IGT to T2DM was assessed during a median follow-up of 7 years (range 1-11 years). Altogether eight SNPs in the <it>ADIPOR2 </it>locus were genotyped in 484 participants of the DPS. Moreover, the same SNPs were genotyped and the mRNA expression levels of <it>ADIPOR2 </it>were determined in peripheral blood mononuclear cells and subcutaneous adipose tissue samples derived from 56 individuals participating in the Genobin study.</p> <p>Results</p> <p>In the DPS population, four SNPs (rs10848554, rs11061937, rs1058322, rs16928751) were associated with CVD risk, and two remained significant (p = 0.014 for rs11061937 and p = 0.020 for rs1058322) when all four were included in the same multi-SNP model. Furthermore, the individuals homozygous for the rare minor alleles of rs11061946 and rs11061973 had increased risk of converting from IGT to T2DM. Allele-specific differences in the mRNA expression levels for the rs1058322 variant were seen in peripheral blood mononuclear cells derived from participants of the Genobin study.</p> <p>Conclusions</p> <p>Our results suggest that SNPs in the <it>ADIPOR2 </it>may modify the risk of CVD in individuals with IGT, possibly through alterations in the mRNA expression levels. In addition an independent genetic signal in <it>ADIPOR2 </it>locus may have an impact on the risk of developing T2DM in individuals with IGT.</p> <p>Trial registration number</p> <p>ClinicalTrials.gov <a href="http://www.clinicaltrials.gov/ct2/show/NCT00981877">NCT00518167</a></p

    Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised

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    Tämä artikkeli ei ole avattavissa lehden sivuilta, koska linkit ja DOI vievät väärään artikkeliin samoin PDF sen ohessa. Kustantajalle ilmoitettu ja pyydetty korjausta.Abstract Background: Twin and family studies have indicated a strong genetic component in autism spectrum disorders, and genetic studies have revealed highly heterogeneous risk factors. The range and severity of the symptom presentation also vary in the spectrum. Thus, symptom-based phenotypes are putatively more closely related to the underlying biology of autism than the end-state diagnosis. Methods: We performed principal component analysis on Autism Diagnostic Interview-Revised algorithm for 117 Finnish families and 594 families from the Autism Genetic Research Exchange (AGRE). The resulting continuous component scores were used as quantitative phenotypes in family-based association analysis. In addition, K-means clustering was performed to cluster and visualize the results of the PCA. Unaffected siblings were included in the study. Results: The components were interpreted as Social Component (SC), communication component and Restricted and Stereotyped Behavior Component (RSBC). K-means clustering showed that, especially in SC, the range of the symptom severity was increased by the siblings. The association of neuroligin 1 with SC was increased, compared to a previous study where only the end-state diagnosis was used. In RSBC, the range of the symptom severity of siblings overlapped greatly with that of patients, which could explain why no association of reelin was found in previous studies in which only the end-state diagnosis was used, but a significant association of reelin with RSBC was now found in the Finnish families (Bonferroni-corrected p=0.029 for rs362644). Although, the Finnish sample is isolated and genetically very homogeneous, compared to the heterogeneous background of AGRE families, many single-nucleotide polymorphisms in reelin, showed modest association with RSBC in the AGRE sample, too. Conclusions: This study demonstrates how the quantitative phenotypes can affect the association analyses, and yields further support to the use of siblings in the study of complex neuropsychiatric disorders.Peer reviewe
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