Nicola Ehlken8
Ekkehard Grünig8
Lars Beckmann4
8Nicola Ehlken
8Ekkehard Grünig
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The Ministry of Health, Labour and Welfare (Japan) has approved research into primary pulmonary hypertension (PPH) and pulmonary hypertension due to chronic thromboembolic and/or embolic disease (CTE-PH) to examine their epidemiology, pathophysiology, and develop new therapeutic strategies. The Respiratory Failure Research Group, with grant support from the(More)
We applied a new approach based on Mantel statistics to analyze the Genetic Analysis Workshop 14 simulated data with prior knowledge of the answers. The method was developed in order to improve the power of a haplotype sharing analysis for gene mapping in complex disease. The new statistic correlates genetic similarity and phenotypic similarity across pairs(More)
BACKGROUND Urine proteome analysis is rapidly emerging as a tool for diagnosis and prognosis in disease states. For diagnosis of diabetic nephropathy (DN), urinary proteome analysis was successfully applied in a pilot study. The validity of the previously established proteomic biomarkers with respect to the diagnostic and prognostic potential was assessed(More)
BACKGROUND The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NP-C) is characterized by a broad clinical variability involving neurological, psychiatric and systemic signs. Diverse patterns of disease manifestation and progression considerably delay its diagnosis. Here we introduce the NP-C clinical database (NPC-cdb) to(More)
  • Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, Sven Sauer, Zdenka Djuric, Cordula Rumig +23 others
  • 2010
Deficiency of the mitochondrial enzyme 2-methyl-3-hydroxybutyryl-CoA dehydrogenase involved in isoleucine metabolism causes an organic aciduria with atypical neurodegenerative course. The disease-causing gene is HSD17B10 and encodes 17beta-hydroxysteroid dehydrogenase type 10 (HSD10), a protein also implicated in the pathogenesis of Alzheimer's disease.(More)
INTRODUCTION The objective of this prospective study was to assess short- and long-term efficacy of exercise training (ET) as add-on to medical therapy in patients with connective tissue disease-associated pulmonary arterial hypertension (CTD-APAH). METHODS Patients with invasively confirmed CTD-APAH received ET in-hospital for 3 weeks and continued at(More)
BACKGROUND Mutations in the bone morphogenetic protein receptor 2 (BMPR2) gene can lead to idiopathic pulmonary arterial hypertension (IPAH). This study prospectively screened for BMPR2 mutations in a large cohort of PAH-patients and compared clinical features between BMPR2 mutation carriers and non-carriers. METHODS Patients have been assessed by right(More)
PURPOSE To describe the phenotypic expression of a new family with familial lateral temporal lobe epilepsy with aphasic seizures, and to compare the findings with the clinical features of previously reported families linked to chromosome 10q22-q24. METHODS Medical records were collected from 12 living affected members. The patients underwent a personal(More)
BACKGROUND Infiltration is a key process in determining the water balance, but so far effects of earthworms, soil texture, plant species diversity and their interaction on infiltration capacity have not been studied. METHODOLOGY/PRINCIPAL FINDINGS We measured infiltration capacity in subplots with ambient and reduced earthworm density nested in plots of(More)
BACKGROUND Aim of this prospective study was to compare clinical and genetic findings in children with idiopathic or heritable pulmonary arterial hypertension (I/HPAH) with children affected with congenital heart defects associated PAH (CHD-APAH). METHODS Prospectively included were 40 consecutive children with invasively diagnosed I/HPAH or CHD-APAH and(More)