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Shengting Li Soren Besenbacher Yingrui Li Karsten Kristiansen Niels Grarup Anders Albrechtsen Thomas Spars? Thorfinn Korneliussen Torben Hansen Jun Wang Rasmus Nielsen Oluf Pedersen Lars Bolund Mikkel H Schierup 《European journal of human genetics : EJHG》2014,22(8):1040-1045
In this paper, we mine full mtDNA sequences from an exome capture data set of 2000 Danes, showing that it is possible to get high-quality full-genome sequences of the mitochondrion from this resource. The sample includes 1000 individuals with type 2 diabetes and 1000 controls. We characterise the variation found in the mtDNA sequence in Danes and relate the variation to diabetes risk as well as to several blood phenotypes of the controls but find no significant associations. We report 2025 polymorphisms, of which 393 have not been reported previously. These 393 mutations are both very rare and estimated to be caused by very recent mutations but individuals with type 2 diabetes do not possess more of these variants. Population genetics analysis using Bayesian skyline plot shows a recent history of rapid population growth in the Danish population in accordance with the fact that >40% of variable sites are observed as singletons. 相似文献
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Sode-Carlsen R Farholt S Rabben KF Bollerslev J Schreiner T Jurik AG Christiansen JS Höybye C 《Endocrine》2012,41(2):191-199
Prader-Willi syndrome (PWS) is characterized by short stature, muscular hypotonia, cognitive dysfunction, and hyperphagia usually leading to severe obesity. Patients with PWS share similarities with growth hormone deficiency (GHD). Few studies have dealt with growth hormone (GH) treatment in PWS adults. The purpose of the Scandinavian study was to evaluate the effects of GH on body composition, lipid and glucose metabolism, physical performance and safety parameters in adults with PWS. Twenty-five women and 21 men with PWS were randomized to treatment with GH or placebo during 1?year followed by 2?years of open labeled GH treatment. At baseline 1/3 had normal BMI, six patients severe GHD, ten impaired glucose tolerance and seven diabetes. At 1?year insulin-like growth factor I (IGF-I) SDS had increased by 1.51 (P?0.001) and body composition improved in the GH treated group. Visceral fat decreased by 22.9?ml (P?=?0.004), abdominal subcutaneous fat by 70.9?ml (P?=?0.003) and thigh fat by 21.3?ml (P?=?0.013), whereas thigh muscle increased 6.0?ml (P?=?0.005). Lean body mass increased 2.25?kg (P?=?0.005), and total fat mass decreased 4.20?kg (P?0.001). The positive effects on body composition were maintained after 2?years of GH treatment. Peak expiratory flow increased by 12% (P?0.001) at 2?years of GH treatment. Lipid and glucose metabolism were unchanged, however, three patients developed diabetes at 2?years of GH treatment. In conclusion GH treatment had beneficial effects on the abnormal body composition without serious adverse events making it a logic treatment option in adults with PWS. 相似文献
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Atrial fibrillation and heart failure are both associated with increased morbidity as well as mortality, and there is a complex interaction between the two conditions. The increasing prevalence and incidence rates of AF and CHF, as well as emerging novel but relatively expensive treatments and interventions, have compounded the significant public health impact at a global level. Ongoing investigative efforts continue to advance the knowledge of the complex interplay between these two conditions. This review critically assesses the current evidence in the field regarding prognostication metrics, drug therapy, and interventions for AF in CHF. We will summarize the important new findings published over the last year, with a focus on the latest advances that are of clinical relevance. 相似文献
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Yongzhong Wang Rasmus Sejersten Ripa Julia Sidenius Johansen Anders Gabrielsen Daniel A. Steinbrüchel Tina Friis 《Scandinavian cardiovascular journal : SCJ》2013,47(5):295-302
Background. YKL-40 is involved in remodelling and angiogenesis in non-cardiac inflammatory diseases. Aim was to quantitate plasma YKL-40 in patients with ST-elevation myocardial infarction (STEMI) or stable chronic coronary artery disease (CAD), and YKL-40 gene activation in human myocardium. Methods and results. We included 73 patients: I) 20 patients with STEMI; II) 28 patients with stable CAD; III) 15 CAD patients referred for coronary by-pass surgery. YKL-40 mRNA expression was measured in myocardium subtended by stenotic or occluded arteries and areas with no apparent disease; and IV) 10 age-matched healthy controls. Plasma YKL-40 was significantly increased in patients with STEMI (88 µg/l, median) and CAD (66 µg/l) compared to controls (16 µg/l, p<0.01 for both). Plasma YKL-40 correlated with CRP at baseline in STEMI (r=0.53, p=0.02) and CAD patients (r=0.41, p=0.031).YKL-40 gene expression was similar in ischemic and non-ischemic myocardium. Conclusions. Plasma YKL-40 was significantly increased in patients with STEMI and stable CAD. Further studies will define the role of YKL-40 as a clinically useful marker for myocardial ischemia, remodelling and maybe prognosis. 相似文献
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Eva Prescott Rasmus Hjardem-Hansen Flemming Dela Ane S. Teisner Henrik Nielsen 《Scandinavian cardiovascular journal : SCJ》2013,47(4):249-255
Objectives. Training improves exercise capacity in patients with heart failure (CHF) but most evidence is on selected younger patients with systolic CHF. Design. All patients diagnosed with CHF over 3 years were screened for inclusion and exclusion criteria. Fifty two patients with systolic CHF (LVEF<45, NYHA II-III) received supervised exercise training twice weekly for 8 weeks. Results. Mean age was 68.2 (+/?SD 11.3) years. Despite marked improvements in physical fitness (workload, 6 minute walk test, incremental shuttle walk test and sit to stand test), there were no changes in serological markers of glycemic control (glucose, insulin, glycerol, free fatty acids, HbA1c), inflammation and endothelial function (hsCRP, orosomucoid, interleukin 6, TNF-alpha, urine-orosomucoid and -albumin/creatinin), lipid metabolism, NT-proBNP or other regulatory hormones (cortisol, epinephrine and IGF-1). There were no changes in quality of life. Conclusions. The effect of exercise training in these older CHF-patients was not as impressive as reported in younger and more selected patients. More studies on the efficiency of exercise training that reflect the age- and co-morbidity of the majority of CHF-patients are needed. 相似文献
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Rasmus Stenmark Persson Teresa Nordin Gun-Marie Hariz Karin Wårdell Lars Forsgren Marwan Hariz Patric Blomstedt 《Neuromodulation》2022,25(6):935-944
ObjectiveTo evaluate the effects of bilateral caudal zona incerta (cZi) deep brain stimulation (DBS) for Parkinson's disease (PD) one year after surgery and to create anatomical improvement maps based on patient-specific simulation of the electric field.Materials and MethodsWe report the one-year results of bilateral cZi-DBS in 15 patients with PD. Patients were evaluated on/off medication and stimulation using the Unified Parkinson's Disease Rating Scale (UPDRS). Main outcomes were changes in motor symptoms (UPDRS-III) and quality of life according to Parkinson's Disease Questionnaire-39 (PDQ-39). Secondary outcomes included efficacy profile according to sub-items of UPDRS-III and simulation of the electric field distribution around the DBS lead using the finite element method. Simulations from all patients were transformed to one common magnetic resonance imaging template space for the creation of improvement maps and anatomical evaluation.ResultsMedian UPDRS-III score off medication improved from 40 at baseline to 21 on stimulation at one-year follow-up (48%, p < 0.0005). PDQ-39 summary index did not change, but the subdomain activities of daily living (ADL) and stigma improved (25%, p < 0.03 and 75%, p < 0.01), whereas communication worsened (p < 0.03). For UPDRS-III sub-items, stimulation alone reduced median tremor score by 9 points, akinesia by 3, and rigidity by 2 points at one-year follow-up in comparison to baseline (90%, 25%, and 29%, respectively, p < 0.01). Visual analysis of the anatomical improvement maps based on simulated electrical fields showed no evident relation with the degree of symptom improvement and neither did statistical analysis show any significant correlation.ConclusionsBilateral cZi-DBS alleviates motor symptoms, especially tremor, and improves ADL and stigma in PD patients one year after surgery. Improvement maps may be a useful tool for visualizing the spread of the electric field. However, there was no clear-cut relation between anatomical location of the electric field and the degree of symptom relief. 相似文献