17 research outputs found

    "Det gør en forskel-at turde se dem-forskellene"— om mangfoldighedsledelse som virksomhedsstrategi

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    Forskelle i medarbejdergruppen er en uudnyttet ressource i mange organisationer. Hvis de bliver brugt, er de en kilde til kreativitet, innovation og nyt samspil mellem talenter. Mangfoldighedsledelse er en ny forretningsstrategi for virksomheder, som sætter ledelse af forskelle i centrum, hvilket giver 'human resources' en ny strategisk rolle. Evnen til at skabe en inkluderende organisation bliver på sigt en vigtig konkurrenceparameter

    Increased frequency of rare missense <i>PPP1R3B</i> variants among Danish patients with type 2 diabetes

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    <div><p>Background</p><p><i>PPP1R3B</i> has been suggested as a candidate gene for monogenic forms of diabetes as well as type 2 diabetes (T2D) due to its association with glycaemic trait and its biological role in glycogen synthesis.</p><p>Objectives</p><p>To study if rare missense variants in <i>PPP1R3B</i> increase the risk of maturity onset diabetes of the young (MODY), T2D or affect measures of glucose metabolism.</p><p>Method</p><p>Targeted resequencing of <i>PPP1R3B</i> was performed in 8,710 samples; MODY patients with unknown etiology (<i>n</i> = 54), newly diagnosed patients with T2D (<i>n</i> = 2,930) and population-based control individuals (<i>n</i> = 5,726, of whom <i>n</i> = 4,569 had normal glucose tolerance). All population-based sampled individuals were examined using an oral glucose tolerance test.</p><p>Results</p><p>Among <i>n</i> = 396 carriers, we identified twenty-three <i>PPP1R3B</i> missense mutations, none of which segregated with MODY. The burden of likely deleterious <i>PPP1R3B</i> variants was significantly increased with a total of 17 carriers among patients with T2D (0.58% (95% CI: 0.36–0.93)) compared to 18 carriers among non-diabetic individuals (0.31% (95% CI: 0.20–0.49)), resulting in an increased risk of T2D (OR (95% CI) = 2.57 (1.14–5.79), <i>p</i> = 0.02 (age and sex adjusted)). Furthermore, carriers with diabetes had less abdominal fat and a higher serum concentration of LDL-cholesterol compared to patients with T2D without rare missense <i>PPP1R3B</i> variants. In addition, non-diabetic carriers had a higher birth weight compared to non-carriers.</p><p>Conclusion</p><p>Rare missense <i>PPP1R3B</i> variants may predispose to T2D.</p></div

    Home care providers to the rescue:a novel first-responder programme

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    To describe the implementation of a novel first-responder programme in which home care providers equipped with automated external defibrillators (AEDs) were dispatched in parallel with existing emergency medical services in the event of a suspected out-of-hospital cardiac arrest (OHCA).We evaluated a one-year prospective study that trained home care providers in performing cardiopulmonary resuscitation (CPR) and using an AED in cases of suspected OHCA. Data were collected from cardiac arrest case files, case files from each provider dispatch and a survey among dispatched providers. The study was conducted in a rural district in Denmark.Home care providers were dispatched to 28 of the 60 OHCAs that occurred in the study period. In ten cases the providers arrived before the ambulance service and subsequently performed CPR. AED analysis was executed in three cases and shock was delivered in one case. For 26 of the 28 cases, the cardiac arrest occurred in a private home. Ninety-five per cent of the providers who had been dispatched to a cardiac arrest reported feeling prepared for managing the initial resuscitation, including use of AED.Home care providers are suited to act as first-responders in predominantly rural and residential districts. Future follow-up will allow further evaluation of home care provider arrivals and patient survival

    Sequencing reveals protective and pathogenic effects on development of diabetes of rare GLIS3 variants.

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    BackgroundBased on the association of common GLIS3 variants with various forms of diabetes and the biological role of GLIS3 in beta-cells, we sequenced GLIS3 in non-diabetic and diabetic Danes to investigate the effect of rare missense variants on glucose metabolism.MethodsWe sequenced 53 patients with maturity-onset diabetes of the young (MODY), 5,726 non-diabetic participants, 2,930 patients with newly diagnosed type 2 diabetes and 206 patients with glutamic acid decarboxylase antibody (GADA) -positive diabetes.ResultsIn total we identified 86 rare (minor allele frequency ConclusionRare missense variants in GLIS3 associates nominally with increased level of HbA1c and increased risk of developing type 2 diabetes. In contrast, the rare p.I28V variant associate with reduced level of fasting plasma glucose and may be protective against type 2 diabetes

    Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment

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    Background: Functionally disruptive variants in the glucokinase gene (GCK) cause a form of mild non-progressive hyperglycemia, which does not require pharmacological treatment. A substantial proportion of patients with type 2 diabetes (T2D) carry GCK variants. We aimed to investigate whether carriers of rare GCK variants diagnosed with T2D have a glycemic phenotype and treatment response consistent with GCK-diabetes. Methods: Eight patients diagnosed with T2D from the Danish DD2 cohort who had previously undergone sequencing of GCK participated. Clinical examinations at baseline included an oral glucose tolerance test and continuous glucose monitoring. Carriers with a glycemic phenotype consistent with GCK-diabetes took part in a three-month treatment withdrawal. Results: Carriers of pathogenic and likely pathogenic variants had lower median fasting glucose and C-peptide levels compared to carriers of variants of uncertain significance and benign variants (median fasting glucose: 7.3 (interquartile range: 0.4) mmol/l vs. 9.5 (1.6) mmol/l, p = 0.04; median fasting C-peptide 902 (85) pmol/l vs. 1535 (295) pmol/l, p = 0.03). Four participants who discontinued metformin treatment and one diet-treated participant were reevaluated after three months. There was no deterioration of HbA1c or fasting glucose (median baseline HbA1c: 49 (3) vs. 51 (6) mmol/mol after three months, p = 0.4; median baseline fasting glucose: 7.3 (0.4) mmol/l vs. 7.0 (0.6) mmol/l after three months, p = 0.5). Participants did not consistently fulfill best practice guidelines for GCK screening nor clinical criteria for monogenic diabetes. Discussion: Carriers of pathogenic or likely pathogenic GCK variants identified by unselected screening in T2D should be reported, as they have a glycemic phenotype and treatment response consistent with GCK-diabetes. Variants of uncertain significance should be interpreted with care. Systematic genetic screening of patients with common T2D receiving routine care can lead to the identification and precise care of patients with misclassified GCK-diabetes who are not identifiable through common genetic screening criteria
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