- Eicosanoids and Hypertension Pharmacology
- Alcohol Consumption and Health Effects
- Metabolomics and Mass Spectrometry Studies
- Fatty Acid Research and Health
- European history and politics
- Cardiovascular and exercise physiology
- Renal function and acid-base balance
- Chronic Kidney Disease and Diabetes
- Connective tissue disorders research
- Muscle metabolism and nutrition
- dental development and anomalies
- Glycogen Storage Diseases and Myoclonus
- Dialysis and Renal Disease Management
- Erythrocyte Function and Pathophysiology
- Heme Oxygenase-1 and Carbon Monoxide
- Physical Activity and Health
- Renal Diseases and Glomerulopathies
- Blood transfusion and management
- Liver Disease Diagnosis and Treatment
- Ion Transport and Channel Regulation
- Pharmacogenetics and Drug Metabolism
- Potassium and Related Disorders
- Amino Acid Enzymes and Metabolism
- Renal and related cancers
- Blood Pressure and Hypertension Studies
Charité - Universitätsmedizin Berlin
2016-2023
Max Delbrück Center
2017-2023
Helios Hospital Berlin-Buch
2018-2022
University of Bonn
2015
Mutations in the ROMK1 potassium channel gene (KCNJ1) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins utero, accounting for polyhydramnios and premature delivery is typical affected infants, who develop massive salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria nephrocalcinosis. This BS believed to represent of infancy, but not adulthood. We herein describe female patient with remarkably...
Epoxides derived from arachidonic acid (AA) are released during exercise and may contribute to vasodilation. However, also affect circulating levels of other epoxides cytochromes P450 (CYP) monooxygenase lipoxygenase (LOX) pathways, many whose exhibit cardiovascular activity in vitro. The effects on their have not been documented. We tested the hypothesis that acute, maximal would influence plasma concentrations these vasoactive substances. measured CYP LOX mediators both n − 3 6 fatty (FA)...
Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, hypoplastic nails, suggestive of CHAND syndrome (OMIM 214350) that belongs to the heterogeneous spectrum ectodermal dysplasias. After exclusion pathogenic mutations in TP63 we performed homozygosity mapping, followed by exome sequencing one affected individual. We initially identified three homozygous linked region, located PWP2, MX2 RIPK4. Recently, RIPK4 have been reported...
Fatty acid (FA)-derived lipid products generated by cytochrome P450 (CYP), lipoxygenase (LOX), and cyclo-oxygenase (COX) influence cardiovascular function. However, plasma measurements invariably ignore 40% of the blood specimen, namely erythrocytes. These red cells (RBCs) represent a cell mass about 3 kg. RBCs are potential reservoir for epoxy fatty acids, which on release could regulate vascular capacity. We tested hypothesis that maximal physical activity would status in RBCs. used...
Factors causing the increased cardiovascular morbidity and mortality in hemodialysis (HD) patients are largely unknown. Oxylipins a superclass of lipid mediators with potent bioactivities produced from oxygenation polyunsaturated fatty acids. We previously assessed impact HD on oxylipins arterial blood plasma found that increases several oxylipins. To study phenomenon further, we now evaluated differences venous undergoing HD. collected samples upper extremities 12 end-stage renal disease...
Omega-3 fatty acids have long been ascribed a positive cardiovascular function. However, the plasma measurements invariably ignore 40% of blood specimen, cells that engage in continuous exchange with their environment. In our study, we included all components circulating blood. Erythrocyte or red-blood-cell (RBC) n-3 acid status has linked to disease and death. A low omega-3 index is an independent risk factor for mortality. We tested hypothesis acute, maximal exercise would influence...
Omega-3 (n-3) fatty acids have beneficial cardiovascular effects, perhaps also in chronic kidney disease (CKD) patients. A low omega-3 index is an independent risk factor end-stage renal (ESRD) dialysis However, the plasma measurements invariably ignore circulating blood cells, including preponderant erythrocytes (RBCs). We measured (HPLC-MS lipidomics) all components of blood, since RBC n-3 acid status has been linked to and mortality. studied 15 healthy persons CKD patients undergoing...
Chronic kidney disease (CKD) is an important risk factor for cardiovascular and all-cause mortality. Survival rates among end-stage renal (ESRD) hemodialysis patients are poor most deaths related to disease. Oxylipins constitute a family of oxygenated natural products, formed from fatty acid by pathways involving at least one step dioxygen-dependent oxidation. They derived polyunsaturated acids (PUFAs) cyclooxygenase (COX) enzymes, lipoxygenases (LOX) or cytochrome P450 epoxygenase. have...
Long-chain fatty acids (LCFAs) serve as energy sources, components of cell membranes, and precursors for signaling molecules. Uremia alters LCFA metabolism so that the risk cardiovascular events in chronic kidney disease (CKD) is increased. End-stage renal (ESRD) patients undergoing dialysis are particularly affected their hemodialysis (HD) treatment could influence blood bioaccumulation transformation. We investigated HD studied profiles vivo by analyzing arterio-venous (A-V) LFCA...
Fatty acid products derived from cytochromes P450 (CYP) monooxygenase and lipoxygenase (LOX)/CYP ω/(ω-1)-hydroxylase pathways are a superclass of lipid mediators with potent bioactivities. Whether or not the chronic kidney disease (CKD) hemodialysis treatments performed on end-stage renal (ESRD) patients affect RBC epoxy fatty acids profiles remains unknown. Measuring solely in plasma is suboptimal. Since such determinations invariably ignore red blood cells (RBCs) that make up 3 kg...
We present a 42-year-old man with BMI of 32, who was referred because proteinuria and decreased renal function. were impressed by his markedly muscular physique. A biopsy performed, which showed focal segmental glomerular sclerosis (FSGS). Is this patient merely an obese person FSGS or is something else going on here? performed extensive clinical laboratory examinations, genetic testing, anthropometric data monitoring over time. transferred our methodology for routine mutation screening...
Background: Assessing detailed metabolism in exercising persons minute-to-minute has not been possible. We developed a “drop-of-blood” platform to fulfill that need. Our study aimed only demonstrate the utility of our methodology, but also give insights into unknown mechanisms and new directions. Methods: platform, based on gas chromatography mass spectrometry, assess from blood-drop. first observed single volunteer who ran 13 km 61 min. particularly monitored relative perceived exertion...
Oxylipins, the oxidative metabolites of polyunsaturated fatty acids (PUFAs), serve as key mediators stress, inflammatory responses, and vasoactive reactions in vivo. Our previous work has established that hemodialysis affects both long chain (LCFAs) oxylipins plasma erythrocytes to varying degrees, which may be responsible for excess cardiovascular complications end-stage renal disease. In this study, we aimed determine changes blood during cardiopulmonary bypass (CPB) patients undergoing...