[Proximal myopathy and fulminant heart failure in a 57 year-old female patient with lupus erythematosus]. / Proximale Muskelschwäche und fulminante Herzinsuffizienz bei einer 57-jährigen Patientin mit Lupus erythematodes.

A case report is presented of fulminant hydroxychloroquine-induced cardiomyopathy in a 57 year-old female patient with a long history of systemic lupus erythematosus. Diagnosis was established based on clinical findings, imaging (echocardiography and cardiac magnetic resonance imaging) as well as endomyocardial biopsy. Despite immediate discontinuation of the medication, the patient died from heart failure within a few days. Since the rare adverse effect described here might be reversible, early diagnosis and discontinuation of hydroxychloroquine are crucial for the prognosis of these patients.

[Management of acute myocardial infarction with ST-segment elevation: Update 2013]. / Management des akuten ST-Strecken-Hebungsinfarktes: Update 2013.

This article gives an update on the management of ST-segment elevation myocardial infarction (STEMI) according to guidelines released in 2012 by the European Society of Cardiology. To ensure a reliable diagnosis the updated universal definition of myocardial infarction will also be covered which is defined by myocardial necrosis. Criteria for diagnosis are a rise or fall of cardiac biomarkers, preferably troponin, in conjunction with symptoms of myocardial ischemia, new repolarisation disorders or left bundle branch block, development of pathological Q-waves, new hypokinesia/akinesia or loss in viability or the detection of intracoronary thrombi during cardiac catheterization or autopsy. The current recommendations for primary diagnosis and treatment by the first medical contact will also be discussed and contains decision-making for the optimal reperfusion strategy. Primary percutaneous coronary intervention remains the preferred reperfusion strategy; however, specifications with respect to time for diagnosis and reperfusion have been introduced. Furthermore, establishing a STEMI network has been emphasized in more detail. Special attention is paid to the new antiplatelet agents and anticoagulation therapy where prasugrel and ticagrelor are currently preferred over clopidogrel.

Association and evolutionary studies of the melatonin receptor 1B gene (MTNR1B) in the self-contained population of Sorbs from Germany.

AIMS: Several polymorphisms of the melatonin receptor 1B gene (MTNR1B) have been shown to be associated with elevated fasting plasma glucose and impaired early insulin release. The aim of this study was to assess the effects of MTNR1B variants on traits related to the metabolic syndrome in the self-contained population of Sorbs from Germany. As comprehensive studies concerning the conservation of MTNR1B are lacking, we also evaluated natural selection in vertebrates and human populations at this locus. METHODS: Five single nucleotide polymorphisms representing all blocks of linkage disequilibrium within and surrounding the MTNR1B locus were genotyped in 937 Sorbs for association analyses on metabolic traits related to Type 2 diabetes. The associations were assessed by regression analyses, the conservation between species was investigated with phylogenetic analysis by maximum likelihood (PAML). In addition, various tests of population genetic measures (e.g. fixation index, Tajima's D) were performed. RESULTS: Previously reported association between MTNR1B variants (rs10830963, rs4753426) and oral glucose tolerance test-derived indices of ß-cell function (homeostasis model assessment-B, P = 3.7 × 10⁻6 and P = 0.004, respectively), as well as insulin (fasting insulin: P=2×10⁻³ and P=0.02; 30-min insulin: P = 2.1 × 10⁻4 and P=0.03, respectively) and fasting glucose (rs10830963, P=1.2×10⁻6) parameters could be replicated in the present study. Phylogenetic analysis by maximum likelihood analyses showed that the gene was strongly conserved between species (ω=0.2583). Structures important for the receptor function are also conserved. On the lineage leading to human adaptive selection was present (ω=1.1030). Population genetic measures further indicated natural selection. CONCLUSIONS: Our data support the physiologic importance of MTNR1B in the context of glucose homeostasis and suggest evidence of selection at this locus.