NDOCRINOLOGY AND

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NDOCRINOLOGY AND

  1. 1. N094 PhD Study Program "Endocrinology and Metabolism" ENDOCRINOLOGY AND METABOLISM Thesis Program of the PhD Curriculum N094 Doctor of Philosophy Coordinator Thomas M. Stulnig, Associate Professor, Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria; phone: +43 1 40400 4368; fax: +43 1 40400 7790; E-mail: thomas.stulnig@meduniwien.ac.at Short Description Endocrinology and metabolism are traditionally linked to each other not only in clinical settings. Due to the importance of hormones to regulate metabolism of individual cells, tissues and whole organisms, regulatory mechanisms in metabolism and endocrine axes often follow common mechanisms. Following the elucidation of endocrine regulatory mechanisms and principal metabolic pathways in the midst of the 20th century, recent developments in methods of molecular biology and in vivo investigations have now paved the way for further significant progress in the field of endocrinology and metabolism. Beginning with the molecular identification of transcription factors for genes implicated in metabolic and endocrine regulations up to in vivo NMR spectroscopy for analysis of metabolic regulation in humans these novel methods will facilitate essential contributions for the elucidation of endocrine and metabolic regulations and will enable the development of novel therapeutic approaches. A prerequisite for this progress to occur is the availability of trained researchers. It is the aim of the PhD program "Endocrinology and Metabolism" to train students for the modern and comprehensive scientific activities in the field of endocrinology and metabolism in its broadest sense. Principles of endocrinology and metabolism are not only scientifically and clinically present in the specialty of internal medicine, but also in gynecology, pediatrics, surgery and nutritional medicine. The university lecturers that work in diverse areas from basic sciences up to clinical disciplines provide opportunities for scientific research in various aspects of the field of endocrinology and metabolism. Thematically, the program comprises theses in basic sciences, diagnostics up to novel therapeutic approaches. Methodologically, the spectrum comprises a broad spectrum of biochemistry and molecular biology up to in vivo investigations and clinical trials. In the framework of this doctoral study, the student will scientifically work in a well-defined segment of the theme under supervision of an experienced principal investigator. Aim of the scientific work is the compilation of a doctoral thesis. In addition, the student will have the possibilities to gain basic knowledge in endocrinology and metabolism in its broadest sense and in various methods for its investigation, e.g. in the basic seminars. Own scientific works will be accompanied by page 1 of 186
  2. 2. N094 PhD Study Program "Endocrinology and Metabolism" critical discussion of scientific results from other groups in journal clubs. Current research projects of involved groups will be discussed in progress reports within thesis seminars. These instruments will put own scientific work put into the context of other scientific achievements to promote strategic planning of experimental work and formulation of hypothesis and results. Furthermore, progress reports advance the presentation skills and critical evaluation of own results. The Medical University of Vienna has established a research focus concentrating scientific ressources on various aspects of metabolism including efforts on the investigation of type 2 diabetes mellitus and the metabolic syndrome, diabetic complications, high-field NMR spectroscopy of metabolic intermediates, molecular mechanisms of metabolic regulation, interference of metabolism with immunological and inflammatory mechanisms, inherited metabolic disorders, and (neuro)endocrine regulation. The PhD program "Endocrinology and Metabolism" strengthens these efforts and provides a unique opportunity for students promote their graduation while interacting with a critical mass of expert principal investigators. The participating university teachers belong to three groups according to their roles in the PhD Program “Endocrinology and Metabolism”: 1. “Supervisors” (S) possess remarkable scientific output and are experienced professionally and in training doctoral students. They give lectures and supervise students in their thesis projects. 2. “Young supervisors” (YS) comprise particularly ambitious principal investigators who are on the way but have not yet achieved a ”venia docendi” (“Habilitation”). Young supervisors are supported by experienced supervisors. Students guided by young supervisors meet more often with the thesis committee, i.e. every 6 months, instead of the usual yearly meetings to guarantee the highest level of education. Young supervisors contribute to the courses as do other teachers and students benefit by obtaining insight into more technical details. 3. “Lecturers” (L) comprise teachers who currently do not fulfill all criteria or abstain from supervising students but have considerable knowledge and experience in a given area. Lecturers contribute to the courses often by presenting a particularly practical approach. Last but not least it is emphasized that the current version of the program with its contributing principal investigators and lecturers is regarded as a preliminary nucleus. The program is designed to integrate more teachers and institutions in order to cover the field of endocrinology and metabolism and related disciplines in all theoretical and practical aspects. page 2 of 186
  3. 3. N094 PhD Study Program "Endocrinology and Metabolism" Recommended Literature • The Metabolic and Molecular Bases of Inherited Disease / Charles R. Scriver (Editor), William S. Sly (Editor), Barton Childs, Arthur L. Beaudet, David Valle, Kenneth W. Kinzler, Bert Vogelstein; McGraw-Hill Professional; 8th edition (2000) - 4 volume set, 6338 pages. • Williams Textbook of Endocrinology / P. Reed Larsen et al.; Saunders, Philadelphia, Pa. [u.a.], 10th ed., 2003. - XXIII, 1927 pages. • Textbook of Endocrine Physiology / ed. by James E. Griffin.; Oxford Univ. Press , Oxford, 4th ed., 2000. - X, 479 pages. • Neuroendocrinology in Physiology and Medicine / ed. P.Michael Conn, Marc E. Freeman; Humana Press, Totowa, NJ, 2000. page 3 of 186
  4. 4. N094 PhD Study Program "Endocrinology and Metabolism" Courses Propedeutics The propedeutics will be an obligatory part of the PhD Program. Six semester hours (SHrs) have to be completed with emphasis on natural science and medical courses for graduates from medical and non-medical studies, respectively. Please follow general regulations for the PhD Program as posted. Basic Seminar The Basic Seminar is held in winter semsters only (2 semester hours) comprising two different sets of themes (I and II). In total 4 SHrs must be completed for the thesis program. The Basic Seminar will provide a broad overview of the field of Endocrinology and Metabolism including nutritional aspects. VO Basic Seminar "Endocrinology and Sabina Baumgartner-Parzer, Metabolism [I/II]"; Christian Bieglmayer, Martin Bischof, 2 SHrs (compulsory course); English; personal Olaf Bodamer, Wilfred Druml, registration by email to Prof. Th. Stulnig Manuela Födinger, Clemens (thomas.stulnig@meduniwien.ac.at) Fürnsinn, Gabriele Häusler, Jörg Michael Hiesmayr, Alexandra Kautzky-Willer, Michael Krebs, Bernhard Ludvik, Anton Luger, Wolfgang Marktl, Bruno Niederle, Peter Pietschmann, Gerhard Prager, Erich Roth, Thomas Stulnig, Walter Tschugguel, Nicole Unger-Manhart, Heinrich Vierhapper, Ludwig Wagner, Kurt Widhalm BASIC SEMINAR I Title Teacher Congenital adrenal hyperplasia S. Baumgartner-Parzer Modern methods of clinical laboratory analysis C. Bieglmayer In vivo studies on hepatic glycogen metabolism M. Bischof Stable isotope techniques-basics and applications O. Bodamer Clinical Nutrition and Infusion Therapy 1 W. Druml Molecular methods in research and diagnostics of M. Födinger metabolic diseases 1 Basics for working with experimental animals C. Fürnsinn Physiology and pathophysiology of growth G. Häusler page 4 of 186
  5. 5. N094 PhD Study Program "Endocrinology and Metabolism" Epidemiology of malnutrition M. Hiesmayr Gestational diabetes A. Kautzky-Willer Insulin resistance M. Krebs Obesity B. Ludvik Physiology of the hypothalamic-pituitary regulation A. Luger Physiology of nutrition and pathophysiology of W. Marktl macronutrients Endocrine surgery 1 B. Niederle Bone biology P. Pietschmann Bariatric surgery 1 G. Prager Protein catabolism, post-aggression phase, E. Roth immunonutrition 1 Lipid metabolism and hyperlipidemia Th. Stulnig Pathophysiology of estrogen-dependent diseases W. Tschugguel D-A-CH Reference values for food intake N. Unger-Manhart Adrenal glands H. Vierhapper Genes relevant in endocrine tumorigenesis L. Wagner Familial hypercholesterolemia in childhood and K. Widhalm adolescence BASIC SEMINAR II Title Teacher Multiple Endocrine Neoplasia 2 S. Baumgartner-Parzer Interpretation of endocrinological lab results C. Bieglmayer Hypoglycemia counterregulation in type 1 diabetes M. Bischof Analytical techniques for quantification of small O. Bodamer molecules Clinical Nutrition and Infusion Therapy 2 W. Druml Molecular methods in research and diagnostics of M. Födinger metabolic diseases 2 From cell culture to the whole organism: experimental C. Fürnsinn approaches Basic scientific aspects of growth G. Häusler Stresshyperglycemia, nutritive intervention in M. Hiesmayr hospitalized patients Pregnancy in patients with type 1 and type 2 diabetes A. Kautzky-Willer mellitus Direct and indirect effects of nutrients on glucose M. Krebs metabolism page 5 of 186
  6. 6. N094 PhD Study Program "Endocrinology and Metabolism" Metabolic syndrome B. Ludvik New developments in the regulation of appetite and A. Luger body weight Physiology of nutrition and pathophysiology of W. Marktl vitamins and trace elements Endocrine surgery 2 B. Niederle Bariatric surgery 2 G. Prager Pathogenesis and treatment of osteoporosis P. Pietschmann Protein catabolism, post-aggression phase, E. Roth immunonutrition 2 Dyslipidemias and polyunsaturated fatty acids Th. Stulnig Pathophysiology of endometriosis W. Tschugguel Polyphenols: anitoxidants and signalling molecules? N. Unger-Manhart Thyroid gland H. Vierhapper The beta cell and insulin transcription L. Wagner Principles and evidence for a preventive nutrition K. Widhalm Journal Club The Journal Clubs (critical paper reviews) are held on a weekly basis by the program’s teachers. Currently, a single Journal Club is established each term. In total 12 SHrs must be completed for the thesis program. Title Lecturer(s) SE Journal Club "Endocrinology and Sabina Baumgartner-Parzer, Metabolism [Semester]"; Christian Bieglmayer, Martin Bischof, 2 SHrs (compulsory course); English; personal Olaf Bodamer, Wilfred Druml, registration by email to Prof. Th. Stulnig Manuela Födinger, Clemens (thomas.stulnig@meduniwien.ac.at) Fürnsinn, Gabriele Häusler, Jörg Michael Hiesmayr, Alexandra Contents: presentation and critical discusssion Kautzky-Willer, Michael Krebs, of published papers Bernhard Ludvik, Anton Luger, Wolfgang Marktl, Bruno Niederle, Peter Pietschmann, Gerhard Prager, Erich Roth, Thomas Stulnig, Walter Tschugguel, Nicole Unger-Manhart, Ludwig Wagner, Kurt Widhalm page 6 of 186
  7. 7. N094 PhD Study Program "Endocrinology and Metabolism" Compulsory Optional Courses According to the curriculum, each student must attend a total of 8 SHrs of Thesis Seminars. More elective courses are to be announced in the future. Please see the current index of courses of the Medical University of Vienna for details Title Lecturer(s) SE Thesis Seminar "Endocrinology and Sabina Baumgartner-Parzer, Christian Metabolism [Semester]" Bieglmayer, Martin Bischof, Olaf 2 SHrs; English; personal registration by email Bodamer, Wilfred Druml, Manuela to Prof. T. Stulnig Födinger, Clemens Fürnsinn, Gabriele (thomas.stulnig@meduniwien.ac.at) Häusler, Jörg Michael Hiesmayr, Alexandra Kautzky-Willer, Michael Contents: presentation and critical discussion Krebs, Bernhard Ludvik, Anton Luger, of thesis projects Wolfgang Marktl, Bruno Niederle, Peter Pietschmann, Gerhard Prager, Erich Roth, Thomas Stulnig, Walter Tschugguel, Nicole Unger-Manhart, Ludwig Wagner, Kurt Widhalm Elective Courses Please see the current index of courses of the Medical University of Vienna for details on elective courses for doctoral study programs. page 7 of 186
  8. 8. N094 PhD Study Program "Endocrinology and Metabolism" Experimental Techniques Methods Working groups in vitro methods apoptosis / proliferation assays Baumgartner-Parzer, Unger-Manhart, Roth bone histomorphometry Pietschmann cell culture, cell lines Stulnig, Luger, Wagner, Bodamer, Unger-Manhart cell culture, perfusion model Luger cell culture, primary Stulnig, Baumgartner-Parzer, Pietschmann, Luger, Wagner, Bodamer, Häusler enzymatics Bodamer FACS - dynamic measurements (calcium Stulnig etc.) FACS - immunofluorescence Stulnig, Baumgartner-Parzer, Pietschmann, Wagner, Unger- Manhart fatty acid analysis (GC) Stulnig fluorescence microscopy Stulnig, Wagner gas chromatography Stulnig, Bodamer gene expression profiling (microarrays) Stulnig, Födinger HPLC, FPLC and other chromatographic Wagner, Bodamer, Roth analyses immunohistochemistry Baumgartner-Parzer, Häusler immunoassays (ELISA, FIA, RIA etc.) Pietschmann, Bodamer immunoblotting Stulnig, Baumgartner-Parzer, Fürnsinn, Krebs, Häusler immunoprecipitation Stulnig, Wagner isolated muscle incubation Fürnsinn lipoprotein ultracentrifugation Stulnig magnetic cell sorting Stulnig mass spektrometry Bodamer metabolic labeling Stulnig, Wagner metabolic rates with radioactive tracers Fürnsinn mikronukleation in lymphocytes Bodamer page 8 of 186
  9. 9. N094 PhD Study Program "Endocrinology and Metabolism" Methods Working groups northern blotting Stulnig, Baumgartner-Parzer, Fürnsinn, Wagner, Bodamer, Födinger PCR, genomic Baumgartner-Parzer, Födinger PCR, on chip Bodamer PCR, real-time (quantitativ, SNP) Stulnig, Pietschmann, Wagner, Födinger, Häusler PCR, reverse transciptase (RT-PCR) Stulnig, Pietschmann, Wagner, Födinger protein expression Wagner protein sequencing Bodamer reporter gen assay Stulnig, Baumgartner-Parzer, Wagner RFLP Baumgartner-Parzer, Födinger sequencing Baumgartner-Parzer, Födinger southern blotting Baumgartner-Parzer, Födinger spectrophotometric enzyme analyses Fürnsinn SSCP Bodamer subcellular fractionation Stulnig, Wagner tissue explants (adipose) Stulnig transfection, gene expression Stulnig, Wagner in vivo methods - animal experiments effects of antidiabetic drugs in rats Fürnsinn mouse models Stulnig, Pietschmann, Bodamer, Unger- Manhart rat models Pietschmann stabile isotope application Bodamer in vivo methods - experiments in humans body composition measurement Widhalm epidemiology of malnutrition Hiesmayr indirect calorimetry Hiesmayr magnetic resonance spectroscopy, multi- Roden, Bischof, Krebs, Bodamer nuclear muscle biopsy Krebs nutritional training, assessment of nutritional Widhalm, Roth, Unger-Manhart, Druml, status Hiesmayr positron emission spectroscopy Bischof, Krebs page 9 of 186
  10. 10. N094 PhD Study Program "Endocrinology and Metabolism" Methods Working groups stabile isotope technique (protein turnover, Roden, Bischof, Krebs, Bodamer glucose turnover, gluconeogenesis, methionine-homocysteine metabolism) tests of endocrine function Luger tests of insulin secretion and insulin sensitivity Roden, Bischof, Kautzky-Willer, Krebs page 10 of 186
  11. 11. N094 PhD Study Program "Endocrinology and Metabolism" Faculty incl. contact information and role in the program Principal investigator E-mail Role* Ao.Univ.Prof.DI.Dr. Sabina sabina.baumgartner- S Baumgartner-Parzer parzer@meduniwien.ac.at Ao.Univ.-Prof. Dr. Christian Bieglmayer christian.bieglmayer@akhwien.at L Ao.Univ.-Prof. Dr. Martin Bischof martin.bischof@meduniwien.ac.at S Ao.Univ.-Prof. Dr. Olaf Bodamer olaf.bodamer@meduniwien.ac.at S Ao. Univ.-Prof. Dr. Wilfred Druml wilfred.druml@meduniwien.ac.at L Ao. Univ.-Prof. Dr. Manuela Födinger manuela.foedinger@meduniwien.ac.at YS Ao. Univ.-Prof. Dr. Clemens Fürnsinn clemens.fuernsinn@meduniwien.ac.at S Ao. Univ.-Prof. Dr. Gabriele Häusler gabriele.haeusler@meduniwien.ac.at L Ao. Univ.-Prof. Dr. Michael Hiesmayr michael.hiesmayr@meduniwien.ac.at L Ao. Univ.-Prof. Dr. Alexandra Kautzky- alexandra.kautzky- S Willer willer@meduniwien.ac.at Ao. Univ.-Prof. Dr. Michael Krebs michael.krebs@meduniwien.ac.at S Ao.Univ.-Prof. Dr. Bernhard Ludvik bernhard.ludvik@meduniwien.ac.at S Ao.Univ.Prof. Dr. Anton Luger anton.luger@meduniwien.ac.at S Ao.Univ.-Prof. Dr. Wolfgang Marktl wolfgang.marktl@meduniwien.ac.at L Ao.Univ.-Prof. Dr. Bruno Niederle bruno.niederle@meduniwien.ac.at S Ao. Univ.Prof. Dr. Peter Pietschmann peter.pietschmann@meduniwien.ac.at S Univ.-Doz. Dr. Gerhard Prager gerhard.prager@meduniwien.ac.at S Prim. ao.Univ.-Prof. Dr. Michael Roden michael.roden@wgkk.sozvers.at S ao.Univ.-Prof. DI. Dr. Erich Roth erich.roth@meduniwien.ac.at S Ao.Univ. Prof. Dr. Thomas Stulnig thomas.stulnig@meduniwien.ac.at S Ao.Univ.Prof. Dr. Walter Tschugguel walter.tschugguel@meduniwien.ac.at S Univ.-Doz. Mag. Dr. Nicole Unger- nicole.unger-manhart@meduniwien.ac.at L Manhart Ao.Univ.Prof. Dr. Heinrich Vierhapper heinrich.vierhapper@meduniwien.ac.at L Ao.Univ.Prof. Dr. Ludwig Wagner ludwig.wagner@meduniwien.ac.at S Univ. Prof. Dr. Kurt Widhalm kurt.widhalm@meduniwien.ac.at S * currently assigned roles: S, supervisor; YS, young supervisor; L, lecturer. page 11 of 186
  12. 12. N094 PhD Study Program "Endocrinology and Metabolism" Description of thesis projects and CVs of supervisors & lecturers: Sabina BAUMGARTNER-PARZER.......................................................................... 13 Christian BIEGLMAYER ........................................................................................... 20 Martin BISCHOF....................................................................................................... 22 Olaf A. BODAMER ................................................................................................... 27 Wilfred DRUML......................................................................................................... 36 Manuela FÖDINGER................................................................................................ 38 Clemens FÜRNSINN ................................................................................................ 47 Gabriele HÄUSLER .................................................................................................. 55 Michael J. HIESMAYR.............................................................................................. 59 Alexandra KAUTZKY-WILLER ................................................................................. 63 Michael KREBS ........................................................................................................ 69 Bernhard LUDVIK..................................................................................................... 77 Anton LUGER........................................................................................................... 86 Wolfgang MARKTL................................................................................................... 96 Bruno NIEDERLE ..................................................................................................... 98 Peter PIETSCHMANN ............................................................................................ 115 Gerhard PRAGER .................................................................................................. 125 Michael RODEN ..................................................................................................... 131 Erich ROTH ............................................................................................................ 141 Thomas M. STULNIG ............................................................................................. 150 Walter TSCHUGGUEL ........................................................................................... 158 Nicole UNGER-MANHART..................................................................................... 164 Heinrich VIERHAPPER .......................................................................................... 169 Ludwig WAGNER ................................................................................................... 170 Kurt M. WIDHALM .................................................................................................. 178 page 12 of 186
  13. 13. N094 PhD Study Program "Endocrinology and Metabolism" Sabina BAUMGARTNER-PARZER Department of Internal Medicine III, Clin. Div. Endocrinology and Metabolism sabina.baumgartner-parzer@meduniwien.ac.at Diabetes associated micro- and macrovascular dysfunction. Analysis of cellular and molecular mechanisms. Abstract Long standing diabetes is characterized by diabetic microangiopathy (diabetic retinopathy and nephropathy) and by premature atherosclerosis. The latter represents the major cause of morbidity and mortality in patients with diabetes mellitus, whereas diabetic retinopathy is the leading cause for blindness in Europe. Recent data suggest that loss of retinal endothelial cells and pericytes due to apoptosis results in acellular capillaries and ischemia, providing the basis for the progression of diabetic retinopathy to the proliferative form of this disease. Accelerated apoptosis of endothelial cells and vascular smooth muscle cells in atherosclerotic regions is assumed to result in plaque erosion and plaque rupture and thus to favor atherothrombosis. It was only recently that bone marrow derived endothelial progenitor cells (EPCs) have been found to contribute to vascular repair and angiogenesis. In diabetic patients, however, numbers of EPCs circulating in the blood are reduced when compared to healthy control subjects. Such reduction of EPCs may contribute to diabetes associated endothelial dysfunction and to the clinical manifestation of atherosclerosis and cardiovascular disease. Therefore, it is of importance to evaluate the hypothesis that diabetes associated metabolic abnormalities (hyperglycemia, dyslipidemia and chronic elevation of free (non- esterified) fatty acids (FFA), elevated levels of proinflammatory cytokines and adhesion molecules) cause depletion of EPCs in diabetic patients. We have previously shown that vasoprotective factors (antioxidants, leptin) prevent, whereas atherosclerotic risk factors (oxidized/glycated LDL, hyperglycemia, proinflammatory cytokines, elevated free fatty acids) trigger apoptosis in cultured vascular cells, depending on stimulus and cell type. Using inhibitors of caspases, of protein kinases and of transcription factors, we could identify the respective target molecules and signal transduction pathways. Due to our extensive experience in this field of research, in future studies we want to test the hypothesis that function (apoptosis, proliferation and secretory profile) of human endothelial progenitor cells is directly affected by diabetes associated metabolic factors. It will be evaluated, whether EPCs functional alterations can be modulated by vasoprotective agents and the respective target molecules and signaling pathways will be characterized. Thesis Subjects Modulation of human endothelial progenitor cell function by metabolic factors. Techniques and infrastructure Isolation and culture of primary cultures of human vascular cells and of endothelial progenitor cells, apoptosis and proliferation assays, FACS analysis, Western and Northern blots, immunocytochemistry, transfection experiments. page 13 of 186
  14. 14. N094 PhD Study Program "Endocrinology and Metabolism" Curriculum Vitae Sabina M. Baumgartner-Parzer Address: Department of Medicine III, Division of Endocrinology & Metabolism, Medical University of Vienna, Waehringer Gürtel 18-20, A-1090 Vienna, Austria; Phone +43 1 40400 4368; Fax +43 1 404007790; Email sabina.baumgartner- parzer@meduniwien.ac.at Personal Data Date of Birth: 5.11.1962 Place of Birth: Bad Ischl, Austria Nationality Austria Education 1985-1989 Doctoral thesis 1981-1985 Study of biotechnology 1973-1981 Secondary school: Gymnasium der Kreuzschwestern Gmunden-Orth Career History 1998-present Associate Professor of Biochemistry at the Department of Internal Medicine III, Div. Endocrinology & Metabolism, Medical University of Vienna Head of the working groups of vascular biology and of molecular genetics of hereditary endocrine diseases 11/1997 Habilitation at the University of Vienna 1990-1997 Post-Doc at the Research Laboratories of Department of Medicine III, Division of Endocrinology & Metabolism, Medical University of Vienna (former Division of Endocrinology & Diabetes Mellitus, 1st Medical Department, University of Vienna) 1993 and 1994 2 months Visiting Fellow at the Havard Medical School, Boston 1989 Promotion (Dr. rer.nat.techn) 1985-1989 Thesis at the 1.Dept. of Medicine (Prof. Mannhalter / Prof. Deutsch), University of Vienna 1985 Graduation (Dipl.-Ing) at the University of Bodenkultur page 14 of 186
  15. 15. N094 PhD Study Program "Endocrinology and Metabolism" Career-related Activities 2003 -present Editorial board of the journal Metabolic Syndrome and Related Disorders 1998-2003 Assistent Editor of the journal Diabetologia 1996 Organization of the EASD Satellite Symposium:"Role of adhesion molecules in Diabetes Mellitus" Awards 2005 Poster-Prize - Austrian Society of Endocrinology&Metabolism 1997 Science award of Upper Austria 1985 Dr. Karl Schleinzer-Award (University of Bodenkultur) 1984/85 Award for gifted students Memberships Austrian Diabetes Association (ÖDG), Austrian Association for Endocrinology and Metabolism (ÖGES), European Association for the Study of Diabetes (EASD) Gesellschaft für gute Labor und Analysenpraxis (GALP) Sources of funding since 2000 Period Organization Role Title kE 2005-2006 Eurasia Pacific Supervisor Vascular dysfunction in 10 Network (Grant to diabetes Erdenekhuu Nansalma) 2005-2007 FWF(Charlotte- Supervisor Nutritional free fatty acids and 80 Bühler-Program to diabetic vascular dysfunction. coworker) Analysis of cellular and molecular mechanisms and interactions. 2004-2005 Jubiläumsfonds Co- Freie Fettsäuren und 60 der Österr. investigator Diabetes assoziierte Nationalbank Gefäßerkrankungen 20 1997-1999 Jubiläumsfonds Principal Bedeutung von LDL- der Österr. investigator Glykierungsprodukten bei der Nationalbank Entstehung von Gefäß- komplikationen im Rahmen page 15 of 186
  16. 16. N094 PhD Study Program "Endocrinology and Metabolism" des Diabetes Mellitus 1997-1999 FWF Principal Hyperglykämie und Apoptose investigator 1993-1995 Herzfelder’sche Principal Einfluß von Glukose auf ET-1 Familienstiftung investigator und EDRF Produktion in kultivierten humanen Endothelzellen verschiedener Stromgebiete Supervision of doctoral and diploma students (since 2000) Diploma students: Andrea Lindenmayer, Kathrin Malits, Ursula Schauer, Magdalena Reithner PhD students: Name Title of thesis Period Acadaemi (expected c title ) Karin Tobler Function of endothelial progenitor cells in 2005- (PhD) gestational diabetes (2008) Michaela Heterogeneous regulation by hyperglycemic 1997- Dr. rer. Artwohl / hyperlipidemic states as well as by an 2000 nat.techn adjuvans in colon cancer therapy (levamisole) of apoptosis, proliferation and associated gene/protein expression in vascular endothelial cells. Teaching - Biochemische, molekularbiologische Arbeitsmethoden in der Endokrinologie (für Wahlfachausbildung gemäß §13 Studiengesetz Medizin, für Diplomanden und Dissertanten. - Experimentelle Arbeiten in Endokrinologie und Stoffwechsel (für Wahlfachausbildung gemäß §13 Studiengesetz Medizin, für Diplomanden und Dissertanten). - Molekulare Endokrinologie, gemeinsam mit H Cross (Pathophysiologie) - Eukaryonten - Biogenese von Zellorganellen (Wahlfachvorlesung gem. mit Prof. Glößl) - Externer Lehrauftrag an der Univ. f. Bodenkultur - Biochemische, molekularbiologische Aspekte der Endokrinologie (Dozentenvorlesung) - Ringvorlesung - ICP (Interdiscinplinary Cooperation Project of Molecular Medicine) – im SS 1999 Publications 44 peer reviewed publications and 3 reviews in scientific journals, 8 invited lectures page 16 of 186
  17. 17. N094 PhD Study Program "Endocrinology and Metabolism" Peer reviewed manuscripts since 2000 (original research and reviews) First, last or corresponding author manuscripts: M Artwohl, T Hölzenbein, L Wagner, A Freudenthaler, W Waldhäusl, SM Baumgartner-Parzer. Levamisole induced apoptosis in cultured vascular endothelial cells. Brit J Pharmacol 131:1577-1583, 2000 SM Baumgartner-Parzer, E Schulze, S Pauschenwein, S Rondot, P Nowotny, W Waldhäusl, H Vierhapper: Mutational spectrum of the steroid 21-hydroxylase gene in Austria – Identification of a novel missense mutation. J Clin Endocrinol Metabol 86:4771-4775, 2001 SM Baumgartner-Parzer, WK Waldhäusl. The endothelium as a metabolic and endocrine organ: its relation with insulin resistance. Exp Clin Endocrinol Diabetes 109 Suppl: 166-179, 2001 SM Baumgartner-Parzer, S Pauschenwein, W Waldhäusl, K Pölzler, P Nowotny, H Vierhapper. Increased prevalence of heterozygous 21-OH germ line mutations in patients with adrenal incidentalomas. Clin Endocrinol 56, 811-816, 2002 M Artwohl, M Roden, T Hölzenbein, A Freudenthaler, W Waldhäusl, SM Baumgartner-Parzer. Modulation by leptin of proliferation and apoptosis in vascular endothelial cells. Int J Obesity 26:577-580, 2002 SM Baumgartner-Parzer, P Nowotny, W Waldhäusl, H Vierhapper. A rare duplicated 21-OH haplotype and a de novo mutation – a family analysis. J Clin Endocrinol Metabol 88: 2794-2796, 2003 M Artwohl, WF Graier, M Roden, M Bischof, A Freudenthaler, W Waldhäusl, SM Baumgartner-Parzer. Diabetic low-density lipoprotein triggers apoptosis in vasular endothelial cells. Diabetes 52:1240-1247, 2003 M Artwohl, M Roden, W Waldhäusl, A Freudenthaler, SM Baumgartner-Parzer. Free fatty acids trigger apoptosis and inhibit cell cycle progression in human vascular endothelial cells. FASEB J 18: 146-148, 2004 H Vierhapper, C Bieglmayer, G Heinze, SM Baumgartner-Parzer. Frequency of RET- protooncogene mutations in patients with normal and with moderately elevated (50-100 pg/ml) pentagastrin-stimulated serum concentrations of calcitonin. Thyroid 14:580-583, 2004 SM Baumgartner- Parzer, P Nowotny, W Waldhäusl, H Vierhapper. Carrier frequency of Congenital Adrenal Hyperplasia (21-OH-deficiency) in a Middle European population. J Clin Endocrinol Metab 90: 775-778, 2004 M Artwohl, C Fürnsinn, W.Waldhäusl, T Hölzenbein, G Rainer, M Roden, A Freudenthaler, SM Baumgartner-Parzer. Thiazolidinediones inhibit proliferation of micro- and macrovascular cells. Evidence for a PPARγ-independent mitochondrial mechanism. Diabetologia, 48:586-594, 2005 page 17 of 186
  18. 18. N094 PhD Study Program "Endocrinology and Metabolism" M Artwohl, T Hölzenbein, C Fürnsinn, A Freudenthaler, N Huttery, W. Waldhäusl and SM Baumgartner-Parzer. Thiazolidinediones inhibit apoptosis and heat shock protein 60 expression in human vascular endothelial cells. Thromb Haemost 93:810-815, 2005 SM Baumgartner-Parzer, R Lang, G Heinze, B Niederle, K Kaserer, W Waldhäusl and H Vierhapper. Polymorphisms in exon 13 and intron 14 of the RET- protooncogene: Genetic modifiers of medullary thyroid carcinoma? J Clin Endocrinol Metab 90: 6232-6236, 2005 H Vierhapper, L Wagner, S Hanslik, B Niederle, S Rondot, E Schulze, C Bieglmayer, K Kaserer and S Baumgartner-Parzer. Primary hyperparathyroidism in a patient with a seemingly homozygous Y719F RET mutation. Thyroid 15: 1303-1308, 2005 H Vierhapper, B Niederle, C Bieglmayer, K Kaserer and S Baumgartner-Parzer. Early diagnosis and curative therapy of medullary thyroid carcinoma by routine measurement of serum calcitonin in patients with thyroid disorders. Thyroid 15: 1267-1272, 2005 SM Baumgartner-Parzer, G Fischer, H Vierhapper. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene. J Clin Endocrinol Metab 90:1164-1167, 2007 M Artwohl, K Muth, Kosulin K, R de Martin, T Hölzenbein, G Rainer, A Freudenthaler, N Huttary, L Schmetterer, WK Waldhäusl, SM Baumgartner-Parzer. R(+)-alpha- lipoic acid inhibits endothelial apoptosis and proliferation – involvement of Akt and Retinoblastoma protein / E2F. Am J Physiol Endocrinol Metab Jun 2007 (epub ahead of print) Co-author manuscripts: H Frisch, T Battelino, E Schober, SM Baumgartner-Parzer, P Nowotny, H Vierhapper. Salt wasting in simple virilizing congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 14:1649-1655, 2001 AP Szremska, R Stoxreither, L Kenner, M Artwohl, HC Theussl, SM Baumgartner- Parzer, E. Passegue, EF Wagner, V. Sexl. Jun B inhibits proliferation and transformation in B lymphoid cells. Blood 102:4159-4165, 2003 W Gartner, T Daneva, I Mineva, SM Baumgartner-Parzer, H Vierhapper, M Weissel, B Niederle, L Wagner. Identification of a novel SNP within intron 19 of the RET gene by comparative RFLP analysis of benign and neoplastic endocrine tissue. ncbi.nlm.nih GenBank Accession AY615726; 2004 W Gartner, T Daneva, I Mineva, S Baumgartner-Parzer, B Niederle, H Vierhapper, M Weissel, L Wagner. A new identified RET proto-oncogene polymorphism is found in a high number of endocrine tumor patients. Human Genetics 117:143-153, page 18 of 186
  19. 19. N094 PhD Study Program "Endocrinology and Metabolism" 2005 D Stoiber, B Kovacic, C Schuster, C Schellack, M Karaghiosoff, R Kreibich, E Weisz, Artwohl M, OC Kleine, M Müller, S Baumgartner-Parzer, J Ghysdael, M Freissmuth, V Sexl. Tyk2 is a key regulator for the tumor surveillance of B lymphoid tumors. JCI 114 (11):1650-1658, 2004 F Votava, D Török, J Kovacs, D Möslinger, SM Baumgartner-Parzer, et al. Estimation of the false negative rate in the newborn screening for congenital adrenal hyperplasia. Eur J Endocrinol 152:869-874, 2005 V Dolzan, J Solyom, G Fekete, J Kovacs, V Rakosnikova, F Votava, J Lebl, Z Pribilincova, S Baumgartner-Parzer, S Riedl, F Waldhauser, H Frisch, M Stopar- Obreza, C Krzisnik, T Battelino. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 153:99-106, 2005 K Namiranian, F Mittermayer, M Artwohl, J Pleiner, G Schaller, BX Mayer, M Bayerle- Eder, M Roden, SM Baumgartner-Parzer, M Wolzt. Free fatty acids do not acutely increase asymmetrical dimmethylarginine concentrations. Horm Metabol Res 37: 768-772 DG Haider, F Mittermayer, G Schaller, M Artwohl, SM Baumgartner-Parzer, G Prager, M Roden, M Wolzt. Free fatty acids normalize a rosiglitazone-induced vasfatin release. Am J Physiol Endocrinol Metab 291:E885-890, 2006 Invited Talks: Hyperglycemia and endothelial cells. XIII. International Donausymposium on Diabetes mellitus. Vienna 5.-7.10.1995 Apoptose - der programmierte Zelltod. Österr. Biochemische Ges, Biochemisches Institut, Universität Graz, 29.6.1996 Role and mechanisms of apoptosis in endothelial cells: Zellkultur-Workshop - European Tissue Culture Society, Wien 21/02/1997 Effect of tri-iodothyronine on cultured endothelial cells. The Vascular System in Thyroid Disease. Heidelberg 6.10.1999 Hyperglycemia and endothelial dysfunktion. Donau-Symposium, Zürich 16.10.1999 Molekulargenetische Diagnostik des AGS. Jahrestagung der Österr. Gesellschaft für Endokrinologie und Stoffwechsel. St. Wolfgang, 19.-21. April 2001 Molekularbiologische Diagnostik bei Nebennierentumoren. Jahrestagung der Österr. Gesellschaft für Endokrinologie und Stoffwechsel. St. Wolfgang, 25.-27.April 2002 Mechanismen des endothelialen Re-Modeling durch metabolische Faktoren. Potsdamer Expertengespräche – Diabetes. Berlin 26.02.2005 page 19 of 186
  20. 20. N094 PhD Study Program "Endocrinology and Metabolism" Christian BIEGLMAYER Clinical Institute for Medical and Chemical Laboratory Diagnostics christian.bieglmayer@akhwien.at Curriculum Vitae Personal data: Born 09/15/1947, living in Vienna, married, one son. Education: 1965-1974: Study of chemistry at the University of Vienna. Thesis: “Function of the glyoxysomal membrane in the metabolism of growing fat storing plants", PhD graduation and basic military service. Profession: 1972-1974: Half-day employee at the Institute of General Biochemistry, afterwards full-time university assistant. 1976-1981: Hormone-Laboratory of the 1st Dept. Obstetrics and Gynaecology (General Hospital of Vienna). 1981-1991: Entrusted with the organisation and direction of the Endocrine Laboratory of the 2nd Dept. Obstetrics and Gynaecology. 1987 "Venia docendi for Biochemistry". 1988 assistant professor and since 1990 tit.a.o. Univ. Prof. 1991 till now: manager of the domain “Endocrinology” at the Clinical Institute for Medical and Chemical Laboratory Diagnostics (KIMCL) Consultant of WHO in Pyongyang, North-Korea in 1988. ÖQUASTA ring-trial leader for quality assurance of “Fertility Hormones”. Award: "Theodor Körner Award" for "Secretion of gonadotropins by pituitary cell culture" in 1978. Membership: Austrian Biochemical Society (member of the board from 1986 to 1988), Austrian Society for Clinical Chemistry, Austrian Society for Endocrinology and Metabolism (founder-member and member of the board since 1995) and New York Academy of Science. Grants: "Fonds zur Förderung der wissenschaftlichen Forschung" (1989: "Eicosanoids in menstrual blood"), "Bürgermeisterfonds der Bundeshauptstadt Wien" (1991: "Influence of cytotoxic drugs on tumor - mucin synthesis" and 1997: "Effects of 5α-reductase inhibitors on androgen metabolism in skin cells"). Scientific work: About 250 articles in scientific periodicals and books: carbohydrate metabolism in plants, steroid hormone receptors, autoimmune-reactions in pre- eclampsia, clinical and experimental endocrinology and oncology, bone marker. Lectures: “Fertility Hormones”, “Bone metabolism”, “Hormones of the adrenal gland”, “Hormones, function tests and tumor markers in gynecology”. “Modern methods of hormone analysis”, “Interpretation of hormone reports”. Outside lectures: “Principles page 20 of 186
  21. 21. N094 PhD Study Program "Endocrinology and Metabolism" of radiation protection and work with radioisotopes in medical laboratories”, “Biotechnology in diagnostic laboratories”. Guidance of 35 students during their diploma work or thesis and final examinations. Guidance of MD’s during their special training in laboratory medicine. page 21 of 186
  22. 22. N094 PhD Study Program "Endocrinology and Metabolism" Martin BISCHOF Dept. Internal Medicine III, Clin Div. Endocrinology and Metabolism martin.bischof@meduniwien.ac.at Effect of Continuous Subcutaneous Glucose Monitoring and Insulin Infusion on the Incidence of Hypoglycemia in Type 1 Diabetic Patients Abstract Hypoglycemia is a frequent complication in long-term type 1 diabetes, especially in patients with low HbA1c-levels. On average, one type 1 diabetic patient attempting to maintain near-normoglycaemia suffers two episodes of symptomatic hypoglycemia per week and one episode of severe, at least temporarily disabling, hypoglycemia approximately once a year. Long-term type 1 diabetic patients often develop hypoglycemia unawareness leading to a greater risk of severe hypoglycemia since symptom recognition and accurate detection of extreme blood glucose values are crucial for management of type 1 diabetes. With subcutaneous glucose sensors continuous blood glucose monitoring is possible. Even with older systems where glucose levels are not visible for the patient, the increased amount of blood glucose measurements allowed the physician to optimize insulin therapy resulting in reduced incidence of hypoglycemia. Only recently an improved system for continuous blood glucose measurements became available. Glucose levels are visible for the patient and alarm limits can be set. A randomized study demonstrated that this system reduces the duration of hypoglycemic episodes by 45%. The latest innovation in hypoglycemia therapy is the combination of continuous insulin supply with continuous blood glucose monitoring. This concept was implemented by the Paradigm Real Time - System which recently became available in Europe. The long-term effects of this therapeutic option on the incidence of hypoglycemia and the quality of life in type 1 diabetic patients has not yet been studied. Thesis Subjects This study plans to evaluate the hypothesis is that a combination of optimal insulin therapy by CSII combined with continuous blood glucose monitoring reduces hypoglycemia frequency and duration in type 1 diabetic patients with frequent hypoglycemia under functional insulin therapy. Furthermore we hypothesize that this therapy will improve quality of life and reduce the fear of hypoglycemia. Techniques and infrastructure Continous subcutaneous insulin infusion, Continous glucose monitoring systems page 22 of 186
  23. 23. N094 PhD Study Program "Endocrinology and Metabolism" Curriculum Vitae Martin BISCHOF, MD Division of Endocrinology & Metabolism, Department of Internal Medicine III, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria; Phone +43 1 40400 7257 Fax +43 1 40400 7257 email martin.bischof@meduniwien.ac.at Personal Data Date of Birth: 01.04.1969 Place of Birth: Vienna, Austria Nationality Austria Education 2003 Certification Internal Medicine 1987 – 1996 studies of Human Medicine 1979 – 1987 secondary school Career History 2005-present Clinical responsibility for the Metabolic Research Unit 2004 – present Associate Professor of Medicine at the Medical University of Vienna Attending Physician at the Div. of Endocrinology & Metabolism 2004 “venia docendi” for Internal Medicine 1998 – 2004 Clinical training and lecturer at the Division of Endocrinology & Metabolism, Medical University of Vienna 1996-1998 Postdoctoral fellow Department of General and Experimental Pathology, University of Vienna Medical School 1996 Fellowship Brown University, Rhode Island, USA 1992-1995 Scientific coworker of the group „Tumorpathology“ Department of General and Experimental Pathology, University of Vienna Medical School Career-related Activities 2005-present Management Training for Medical Leaders at the University of Krems page 23 of 186
  24. 24. N094 PhD Study Program "Endocrinology and Metabolism" Awards 2002 Aventis-Preis, University of Vienna Medical Faculty 1996 Legacy Hirtl-Buss, University of Vienna Medical Faculty (research grant) Memberships Austrian Diabetes Society European Society for the Study of Diabetes Austrian Society for Endocrinology and Metabolism Austrian Society for Internal Medicine Sources of funding (since 2000) Period Organization Short Title K€/yr 2005 – FWF (F17980-B11) Brain metabolism during hypoglycemia in 70 2007 type 1 DM 2004 – Austrian National Glucose metabolism in GSD 1 26 2006 Bank Project #10892 Supervision of doctoral students (since 2000) Name Title of thesis Period (expected) Acad.Title Martina Mandl Measurement of 2005 – 2008 PhD unidirectional fluxes to ATP in human occipital lobe using 31PMR saturation transfer Publications 27 peer reviewed publications in scientific journals Peer reviewed manuscripts since 2000 (original research and reviews) First, last or corresponding author manuscripts: Bischof-M, Ludwig-C, Hofer-A, Kletter-K, Krebs-M, Stingl-H, Nowotny-P, Waldhäusl- W, Roden-M. Hormonal and Metabolic Counterregulation During and After High-Dose Insulin-Induced Hypoglycemia in Diabetes Mellitus Type 2. Hormone and Metabolic Research (2000) 32:417-423 Bischof-MG, Bernroider-E, Ludwig-C, Kurzemann-S, Kletter-K, Waldhäusl-W, Roden- M. Effect of Near Physiologic Insulin Therapy on Hypoglycemia Counterregulation in Type 1 Diabetes. Hormone Research (2001) 56:151-158. page 24 of 186
  25. 25. N094 PhD Study Program "Endocrinology and Metabolism" Bischof-MG, Krssak-M, Krebs-M, Bernroider-E, Stingl-H, Waldhäusl-W, Roden-M. Effects of Short-Term Improvement of Insulin Treatment and Glycemia on Hepatic Glycogen Metabolism in Type 1 Diabetes Mellitus. Diabetes (2001) 50: 392-398 Bischof-MG, Bernroider-E, Krssak-M, Krebs-M, Stingl-H, Nowotny-P, Yu-C, Shulman- GI, Waldhäusl-W, Roden-M. Hepatic Glycogen Metabolism in Type 1 Diabetes After Long-Term Near Normoglycemia. Diabetes (2002) 51: 49-54 Bischof-MG, Mlynarik-V, Brehm-A, Bernroider E, Krssak-M, Bauer-E, Madl-C, Waldhäusl W, Roden-M. Brain Energy Metabolism During Hypoglycemia in Healthy and Type 1 Diabetic Humans. Diabetologia (2004) 47: 648-651 Bischof-MG, Brehm-A, Bernroider-E, Krssak-M, Mlynarik-V, Krebs-M, Roden-M. Cerebral glutamate metabolism during hypoglycemia in healthy and type 1 diabetic humans. European Journal of Clinical Investigation (2006) 36:164-169 Bischof-MG, Heize-G, Vierhapper-H. Vitamin D Status in a Healthy Population and its Relation to Age and BMI. Hormone Research (2006) 66: 211-215 Gessl-A, Bischof-M. Thyroid disorders and the Kidney. Nephro-News (2006) 8: 1-12 Co-author manuscripts: Krebs-M, Stingl-H, Nowotny-P, Weghuber-D, Bischof-M, Waldhäusl-W, Roden-M. Prevention of in Vitro Lipolysis by Tetrahydrolipstatin. Clinical Chemistry (2000) 46: 950-954 Raber-W, Raffesberg-W, Bischof-M, Scheuba-C, Niederle-B, Gasic-S, Waldhäusl-W, Roden-M. Diagnostic Efficacy of Unconjugated Plasma Metanephrines for the Detection of Pheochromocytoma. Archives of Internal Medicine (2000) 160: 2957- 2963 Cross-HS, Bareis-P, Hofer-H, Bischof-MG, Bajna-E, Kriwanek-S, Bonner-E, Peterlik- M. 25-Hydroxyvitamin D3-1α-Hydroxylase and Vitamin D Receptor Gene Expression in Human Colonic Mucosa is Elevated During Early Cancerogenesis. Steroids (2001) 66:287-292 Bareis-P, Bises-G, Bischof-MG, Cross-HS, Peterlik-M. 25-Hydroxy-Vitamin D Metabolism in Human Colon Cancer Cells During Tumor Progression. Biochemical Biophysical Research Communications (2001) 285: 1012-1017 Stingl-H, Krssak-M, Krebs-M, Bischof-MG, Nowotny-P, Fürnsinn-C, Shulman-GI, Waldhäusl-W, Roden-M. Lipid-Dependent Control of Hepatic Glycogen Stores in Healthy Man. Diabetologia (2001) 44: 48-54 Krebs-M, Krssak-M, Nowotny-P, Weghuber-D, Gruber-S, Mlynarik-V, Bischof-M, Stingl-H, Fürnsinn-C, Waldhäusl-W, Roden-M. Free Fatty Acids Inhibit the Glucose- Stimulated Increase of Intramuscular Glucose-6-Phosphate Concentration in Humans. Journal of Clinincal Endocrinology and Metabolism (2001) 86: 2153-2160 Bayerle-Eder-M, Fuchsjager-Mayrl-G, Sieder-A, Polska-E, Roden-M, Stulnig-T, Bischof-MG, Waldhäusl-W, Schmetterer-L, Wolzt-M. Effect of Pravastatin on Responsiveness to N-monomethyl-L-Arginine in Patients With Hypercholesterolaemia. Atherosclerosis (2002) 160: 177-184 Bareis-P, Kallay-E, Bischof-MG, Bises-G, Hofer-H, Pötzi-C, Manhardt-T, Bland-R, Cross-HS. Clonal Differences in Expression of 25-Hydroxyvitamin D3-1α-hydroxylase, page 25 of 186
  26. 26. N094 PhD Study Program "Endocrinology and Metabolism" of 25-Hydroxyvitamin D3-24-hydroxylase, and of the Vitamin D Receptor in Human Colon Carcinoma Cells: Effects of Epidermal Growth Factor and 1α,25- Dihydroxyvitamin D3. Experimental Cell Research (2002) 276:320-327 Stingl-H, Schnedl-WJ, Krssak-M, Bernroider-E, Bischof-MG, Lahousen-T, Pacini-G, Roden-M. Reduction of Hepatic Glycogen Synthesis and Breakdown in Patients with Agenesis of the Dorsal Pancreas. Journal of Clinincal Endocrinology and Metabolism (2002) 87: 4678-4685 Anderwald-C, Bernroider-E, Krssak-M, Stingl-H, Brehm-A, Bischof-MG, Nowotny-P, Roden-M, Waldhäusl-W. Effects of Insulin Treatment in Type 2 Diabetec Patients on Intracellular Lipid Content in Liver and Skeletal Muscle. Diabetes (2002) 51: 3025- 3032 Artwohl-M, Graier-W, Roden-M, Bischof-M, Freudenthaler-A, Waldhäusl-W, Baumgartner-Parzer-S. Diabetic Low-densitiy Lipoprotein Triggers Apoptosis in Vascular Endothelial Cells. Diabetes (2003) 52:1240-1247 Cauza-E, Hanusch-Enserer U, Bischof M, Spak-M, Kostner-K, Dunky-A, Ferenci-P. Increased C282Y Heterozygosity in Gestational Diabetes. Fetal Diagnosis and Therapy (2005) 20:349-354 Weghuber-D, Roden-M, Franz-C, Chmelik-M, Torabia-S, Nowotny-P, Gruber-S, Waldhäusl-W, Klingler-A, Bischof-M, Widhalm-K. Insulin resistance, but not obesity determines fatty liver in obese children. Submitted for publication. Zauner-A, Nimmerrichter-P, Anderwald-C, Bischof-M, Schiefermeier-M, Ratheiser-K, Schneeweiss-B, Zauner-C. Severity of insulin resistance in critically ill medical patients. Submitted for publication. page 26 of 186
  27. 27. N094 PhD Study Program "Endocrinology and Metabolism" Olaf A. BODAMER Dept. General Paediatrics olaf.bodamer@meduniwien.ac.at Mechanisms of prematurity - the potential role of genetic and metabolic factors Abstract Preterm delivery is the worldwide leading cause of infant mortality and morbidity. In the United States of America between 7 and 8% of live born newborn infants have a birth weight of 2500 g. About 20% of these weigh 1500 g or less and are mostly born prematurely. The causes for premature birth and intrauterine growth retardation are closely related and are multifactorial in origin; many social, environmental, medical and genetic factors have been suggested. Genetic factors from both mother and fetus probably play a role in determining gestational length and could confer a possible genetic predisposition towards preterm birth. Since infections seem to be most prevalent among the identifiable causes of preterm birth, it is conceivable that genetic factors that predispose to infections may play an important role. A candidate genetic study focusing on genes that encode cytokines, mediators of apoptosis and host defense found associations with allelic variants in the genes for interleukin 4 and 10 (IL4, IL10), the tumor necrosis factor alpha (TNF), and the mannose-binding lectin gene (MBL2). The possible genetic context between infection, inflammation and preterm delivery is also supported by other findings, in particular for IL4 and TNF. In addition, genetic and dietary factors conferring metabolic perturbations, such as low cholesterol during early pregnancy have been associated with adverse outcome including prematurity. The objectives of our research are twofold: First to identify novel genetic and metabolic factors that are associated with prematurity and, secondly, to identify and test appropriate mouse models of prematurity with respect to novel therapeutic approaches. Thesis Subjects) Arginine:glycine amidinotransferase (AGAT) knock-out mice - a model for prematurity and perinatal asphyxia? The role of genetic factors for the pathophysiology of prematurity - prospective multi- center, multi-national study. Techniques and infrastructure Mouse model of AGAT deficiency; phenotypic characterization of mice; primary tissue cultures; enzymatic analysis; molecular analyses (PCR, dHPLC, sequencing); chip arrays; all required equipment available. page 27 of 186
  28. 28. N094 PhD Study Program "Endocrinology and Metabolism" Curriculum Vitae Olaf BODAMER Division of Biochemical and Paediatric Genetics, Department of General Paediatrics, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria Phone +43 1 40400 3210; Fax +43 1 4063484; Email olaf.bodamer@meduniwien.ac.at Personal Data Date of Birth: 25.03.1963 Place of Birth: Stuttgart, Germany Nationality Germany Education 2005 Specialist in Human Genetics (Medizinische Biologie) 2001 – present Specialist in Inborn Errors of Metabolism 1999 Specialist in Paediatrics 1999 American Board Certification in Medical Genetics 1997-1999 Fellowship Medical Genetics, Baylor College of Medicine, Houston, USA 1997 Educational Commission for Foreign Medical Graduates (ECFMG) test passed 1994 - 1997 PhD Studies at the University College London, UK 1989 – 1992 Doctoral thesis MD at the University Medical School Heidelberg and Saarland 1982 – 1989 Studies of Human Medicine at the University of Heidelberg, Germany 1974 – 1982 secondary school in Stuttgart, Germany Career History 2004 – present Director of the Austrian National Screening Program 2004 – present Director of Biochemical and Paediatric Genetics at the Department of General Paediatrics, Medical University of Vienna. 2002 – present Associate Professor at the Department of General Paediatrics, Medical University of Vienna. Consultant at the Children’s Hospital Mödling and Prayer Children’s Hospital Vienna page 28 of 186
  29. 29. N094 PhD Study Program "Endocrinology and Metabolism" 2002 “venia docendi” for Paediatrics 2001-present Elected Fellow of the American College of Medical Genetics 1999-2001 Assistant Professor at the Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, USA 1997 – 1999 Fellow at the Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, USA 1994 – 1999 Senior Research Associate at the Institute of Child Health, London, UK 1992 – 1993 University Assistant at the Division of Paediatric Oncology and Haematology, Univ.-Children’s Hospital Erlangen, Germany 1989– 1992 Doctoral thesis at the University Medical School Heidelberg and Saarland 1989 – 1992 Assistant Children’s Hospital Ludwigshafen, Germany and different private practices Career-related Activities 2001 – present Director of quality management at the Division of Biochemical and Paediatric Genetics, Medical University Vienna 2003 – present Director of the interdisciplinary working group at the University Children’s Hospital Vienna 2003 – present Director of the National Metabolic Registry Awards 2005 Wissenschaftspreis Österreichische Gesellschaft für Kinder- und Jugendheilkunde 2001 Travel award Society of Inbron Errors of Metabolism USA 1988 Stipend of the DAAD (Deutscher Akademischer Auslandsdienst) Memberships Deutsche Gesellschaft für Kinderheilkunde Society for the Study of Inborn Errors of Metabolism British Inherited Metabolic Group, England American Society of Human Genetics page 29 of 186
  30. 30. N094 PhD Study Program "Endocrinology and Metabolism" American College of Medical Genetics Österreichische Gesellschaft für Humangenetik International Society for Neonatal Screening Sources of funding (since 2000) Period Organization Short Title K€/yr 2007 – Navi Mumbai Incidence of Inborn Errors of Metabolism in 7,5 2009 Institue of Research India in Mental and Neurological Handicap 2007 – Ministry of Science Diagnostic strategies for the molecular 67 2009 diagnosis of Lysosomal storage disorders 2006 – Ministry of Health Neonatal Screening for Lysosomal 207 2010 storage disorders 2006 – Cytonet Hepatocytes and ureacycle function 16 2007 2006 - Milupa Threonine Metabolism in individuals with 18 2007 phenylketonuria 2004 - Genzyme Morbus Fabry, Development of a novel 42 2009 method for neonatal screening for lysosomal 2004 - SHS GmbH Development of analytical techniques 46 2008 2002 – Austrian National Neonatal screening for disorders of steroid 63 2004 Bank (#9572) genesis Supervision of doctoral students (since 2000) Name Title of thesis Period (expected) Acad. Title Karin therapeutic effects of oral 2001 - 2004 MD Tuschl Tetrahydrobiopterin in patients with classical phenylketonuria-a stable isotope study Rene Haploid Protein Expression Test 2001 - 2004 MD Ratschman n Yvonne Homocysteine and Methionine 2004 - 2007 MD page 30 of 186
  31. 31. N094 PhD Study Program "Endocrinology and Metabolism" Sommer Metabolism using stable isotopes Karin Stipend Metabolicum (€ 15.000) 2004 Tuschl Denise Maternal PKU 2002 - 2003 Mag. Rauter Manuela Epigenetics and Methylation 2004 – 2006 MD Hiess Dimitri Tandem MS Screening 2005 - 2007 MD Saliabis Julia CDGIK – a novel disorder of 2005 - PhD Vodopiutz glykosylation Furhan AGAT Mousemodel 2006 - PhD Iqbal Ana Kiš Genetics of prematurity 2007 - PhD Publications 61 and 10 peer reviewed publications and reviews, resp., in scientific journals, 53 invited lectures, Peer reviewed manuscripts since 2000 (original research and reviews) First, last or corresponding author manuscripts: Y. Estrov, F. Scaglia, O.A.F. Bodamer. Psychiatric symptoms in inborn errors of metabolism. J Inher Met Dis 2000; 23:2-6. (Review) O.A.F. Bodamer, A.Vellodi. Protein, glucose and energy metabolism in Gaucher disease type I. J Inher Met Dis 2000; 23:86-87. F. Feillet, O.A.F. Bodamer, S. Sequeira, M. Dixon, J.V.Leonard. Resting energy expenditure in disorders of propionate metabolism. J. Ped 2000; 136:659-663. O.A.F. Bodamer, D.Halliday, J.V. Leonard. The effects of L-alanine supplementation in late- onset glycogen storage disease type II. Neurology 2000; 55:710-712. O.A.F Bodamer, D. Halliday. Uses of stable isotopes in clinical diagnosis and research in the pediatric population. Arch Dis Child 2001; 84:444-448. (Review) O.A.F. Bodamer, D.S. Rosenblatt, S.H. Appel, A.L. Beaudet. Late-onset combined homocystinuria and methylmalonic aciduria (cblC). Neurology 2001; 56:1113. O.A.F. Bodamer, E.J. Popek, C.A. Bacino. Atypical presentation of amniotic band syndrome. Am J Med Gen 2001; 100:100-102. O.A.F. Bodamer, R.M. Bravermann, W.J. Craigen. Diagnosis of autosomal recessive page 31 of 186
  32. 32. N094 PhD Study Program "Endocrinology and Metabolism" osteopetrosis: presence of fractures in a 3-month old female. J Paed Child Health 2001; 37:520-522. O.A.F. Bodamer, S.M. Bloesch, A. Gregg, S. Stöckler-Ipsiroglu, W.E. O’Brien. Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass- spectrometry. Clin Chim Acta 2001; 308:173-178. O.A.F. Bodamer, E. Wraith, CR Scott, F. Scaglia. A New Variant Type III (Type IIID) Gaucher Disease Characterized by Dysmorphic Features, Absence of Cardiovascular Involvement, and Compound Heterozygosity for a Novel Mutation (D409H/C16S) Am J Med Genet 2002; 109:328-31. D.L. Smith, O.A.F. Bodamer. Practical management of combined MMA / homocystinuria (cblC). J Child Neurol. 2002; 17:353-6. (Review) O.A.F. Bodamer, D. Möslinger, A. Mühl und S. Stöckler-Ipsiroglu. Neugeborenen- screening in Österreich: Bestandsaufnahme, Neuentwicklungen und Zukunftsperspektiven. Pädiat Prax 2002; 61:539-549. O.A.F. Bodamer, D. Haas, M.M.P. Hermans, A.J.J. Reuser, J.V. Leonard, G.F. Hoffmann. Long-term management of childhood/non-classical infantile Glycogen Storage Disease Type II (GSD-II) with oral L-alanine supplementation. Ped Neurol 2002; 27:145- 147. O.A.F. Bodamer, F. Feillet, R.E. Lane, P.J. Lee, M.A. Dixon, D. Halliday, J.V. Leonard. Utilisation of cornstarch in glycogen storage disease type Ia. Europ J Gastroenterol Hepatol 2002; 14:1251-1256. O.A.F. Bodamer, D. Bercovich, M. Schlabach, C. Ballantyne, D. Zoch, A.L. Beaudet. Use of Denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. Clin Chem 2002; 48:1913-1918. K. Hussein*, O.A.F. Bodamer*, F.J. Cameron, C. Camacho-Hubner, M.A. Soos, J. Jones, F. Taylor, S. O’Rahilly, A. Aynsley-Green. A new syndrome of hemihypertrophy and severe non-ketotic hypoglycaemia without hyperinsulinism in childhood. Hormone Research 2004; 61:222-227. *joint first author O.A.F. Bodamer, R. Ratschmann, E. Paschke, T. Voigtländer, S. Stöckler-Ipsiroglu Recurrent acroparesthesia during febrile infections in a 9 year-old male. Lancet 2004; 363:1698. O.A.F. Bodamer, S. Gruber, S. Stöckler-Ipsiroglu. Nuclear magnetic resonance spectroscopy in GCDH deficiency. JIMD 2004; 27:877-883. K. Tuschl, O.A.F. Bodamer, W. Erwa, A.Mühl. Novel Method for Rapid Analysis of Total page 32 of 186
  33. 33. N094 PhD Study Program "Endocrinology and Metabolism" Plasma Homocysteine by Tandem Mass Spectrometry. Clin Chim Acta 2005; 351:139-41. K. Tuschl, A. Gal, E. Paschke, S. Kircher, S., O.A.F. Bodamer. Mucopolysaccharidosis type II in females – case report and review of literature. Ped Neurol 2005; 32:270-272. M. Holub, L. Potocki, O.A.F. Bodamer. Oral-Facial-Digital Syndrome Type 1: Review of Cerebral Malformations. Am J Med Genet 2005; 136:218? (Review). O.A.F. Bodamer, A. Mühl. Analysis of acylcarnitine ester for the diagnosis of inborn errors of metabolism using tandem mass-spectrometry. Chem Month 2005; 136:1293- 1297. O.A.F. Bodamer. Genetische Polymorphismen und Prädisposition. Pädiatrie Pädiologie 2005; 1:27-31. (Review). O.A.F. Bodamer, T Sahoo, A Beaudet, W O΄Brien, L Sweetman, T Bottiglieri, C Wagner, F Scaglia. Evidence for impaired creatine synthesis in patients with combined methylmalonic aciduria and homocystinuria (cblC) – new pathomechanism and rationale for treatment of disorders of remethylation? Annals of Neurol 2005; 57:557-560. R. Ratschmann, O.A.F. Bodamer. Genetische Polymorphismen und Prädisposition. Päd. Prax 2005; 66:659-664. (Review). CB. Item, S. Stöckler-Ipsiroglu, C. Willheim, A. Mühl, O.A.F. Bodamer. Use of Denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. Mol Genet Metab 2005; 86:328-334. O.A.F. Bodamer, M. Beck, M. Weigl. MPS-I. Iatros Pädiatrie 2005. (Review) O.A.F. Bodamer, K Hussein, AA Morris, C-D Langhans, D Rating, E Mayatepek, JV Leonard. Glucose and leucine kinetics in children with idiopathic ketotic hypoinsulinaemic hypoglycaemia. Arch Dis Child 2006;91:483-6 O.A.F. Bodamer, W. Maurer, G. Mitterer, M.W. Mueller, A. Pollak, W.M. Schmidt. Mannose-binding lectin (MBL2) polymorphisms and the risk of preterm birth. Genetics in Medicine 2006;8:518-524 M. Holub, K. Tuschl, R. Ratschmann, K. Strnadova, W. Sperl, A. Mühl, G. Heinze, O.A.F. Bodamer. Influence of hematokrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. Clin Chim Acta 2006;373:27-31 K. Strnadova, M. Holub, A. Mühl, K. Tuschl, F. Waldhauser, O.A.F. Bodamer. Long- term stability of amino acids and acylcarnitines in dried blood spots used for neonatal screening by tandem mass spectrometry. Clin Chem 2007;53:717-722 page 33 of 186
  34. 34. N094 PhD Study Program "Endocrinology and Metabolism" K. Tuschl, M. Holub, M. Herle, B. Fritz, R. Stindl, C. Fonatsch, O.A.F. Bodamer. Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphism, psychomotor retardation and epilepsy. Am J Med Genet 2007 (accepted). M. Freilinger, D. Kalisch, A. Mühl, O. Haas, A. Moritz, O.A.F. Bodamer. Methylation status in females with Rett syndrome. J Child Neurol 2007(accepted). J. Vodopiutz, C.B. Item, M. Häusler, H. Korall, O.A.F. Bodamer. Severe speech delay as presenting symptom of guanidinoacetate methyltransferase deficiency. J Child Neurol 2007 (accepted). O.A. Bodamer, G.F. Hoffmann, M. Lindner. Expanded Newborn Screening in Europe in 2007. JIMD 2007 (accepted). Co-author manuscripts: F. Scaglia, V.R. Sutton, O.A.F. Bodamer, S.K. Shapira. Mitochondrial DNA depletion. J Child Neurol 2001; 16:136-138. S.A. Berend, O.A.F. Bodamer, S.K. Shapira, L.G. Shaffer, C.A. Bacino. A familial complex chromosomal rearrangement resulting in a recombinant chromosome. Am J Med Genet 2002; 109:311-7. C.B. Item, C. Stromberger, A. Muhl, C. Edlinger, O.A.F. Bodamer, A. Schulze, R. Surtees, V. Leuzzi, G.S. Salomons, C. Jakobs, S. Stöckler-Ipsiroglu. Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. Clin Chem 2002; 48:767-9. C. Stromberger, O.A.F. Bodamer, S. Stöckler-Ipsiroglu. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003;26:299- 308. (Review). J. Crone, D. Moslinger, O.A.F. Bodamer, W. Schima, WD Huber, E Holme, S. Stockler Ipsiroglu. Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. Acta Paediatr. 2003; 92:625-8. M. Orendac, J. Zeman, S.P. Stabler, R.H. Allen, J.P. Kraus, O.A.F. Bodamer, S. Stöckler- Ipsiroglu, V. Kozich. Homocystinuria due to cystathionine β-synthase deficiency: novel biochemical findings and treatment efficacy JIMD 2003; 26:761-773. C.B. Item, S. Mercimek-Mahmutoglu, R. Battini, C. Edlinger-Horvat, C. Stromberger, O.A.F. page 34 of 186
  35. 35. N094 PhD Study Program "Endocrinology and Metabolism" Bodamer, A. Mühl, M.A. Vilaseca, H. Korall, S. Stöckler-Ipsiroglu. Characterisation of 7 novel mutations in seven patients with GAMT deficiency. Hum Mut 2004; 23:524- 530. M. Holub, O.A.F. Bodamer, C. Item, A. Mühl, A. Pollak, S. Stöckler-Ipsiroglu. Correlation between disorders of fatty acid oxidation and HELLP syndrome? Acta Paediat 2005; 94:48-52. G. Mitterer, O.A.F. Bodamer, C. Harwanegg, W. Maurer, M.W. Mueller, W.M. Schmidt. Performance of Microarray Based SNP Detection in a Routine Clinical Setting. Gene Testing 2005; 9:6-13. S. Külkens, I. Harting, S. Sauer, A. Schulze-Bergkamen, J. Zschocke, G. F. Hoffmann, S. Gruber, O. A. F. Bodamer, S. Kölker. Late-onset neurologic disease in two patients with glutaryl-CoA dehydrogenase deficiency. Neurology 2005; 64:2142-2144. M. Huemer, B. Fowler, O.A.F. Bodamer, T. Suormala, B. Simma, J.O. Sass. Pre- and postnatal treatment in the cblC defect. J Pediatr. 2005; 147:469-472. K.A. Strnadová, F. Votava, J. Lebl, A. Mühl, C. Item, O.A.F. Bodamer, T. Torresani, Bouška, F. Waldhauser, W. Sperl. Prevalence of congenital adrenal hyperplasia and inborn errors of metabolism among sudden infant death in two Middle European countries: A retrospective analysis. Europ J Ped 2007;166:1-4 S.Fischer, G. Mann, M. Konrad, M. Metzler, G. Ebetsberger, N. Jones, B. Nadel, O. A. Bodamer, O. Haas, K. Schmitt, E. Panzer-Grunmeyer. Lack of leukemia-and clone Specific markers at birth in children with T cell precursor ALL suggests a predominantly postnatal origin. Blood 2007 Jun 8; (print) page 35 of 186
  36. 36. N094 PhD Study Program "Endocrinology and Metabolism" Wilfred DRUML Clinical Division of Nephrology and Dialysis, Department of Internal Medicine III wilfred.druml@meduniwien.ac.at Curriculum Vitae Name: Prof. Dr. med. Wilfred Johannes DRUML married with Mrs. Dr. jur. Christiane Druml 3 children (Hephzibah 22, Zino 20, Carl 16) Home address: Gottfried Keller-Gasse 13, A-1030 Vienna, Austria 31. 7. 1949 born in Mauthen/ Carinthia, Austria 1969 - 1972 Medical training (preclinical part) in Innsbruck, Austria 1972 - 1975 Medical training (clinical part) Vienna, Austria 1975 Graduation; MD 1975 - 1991 Residence/ fellow in medicine, Department of Internal Medicine I, University of Vienna, Austria 1982 Borad certification Internal Medicine 1985 - 1987 Postdoctoral research fellow Harvard University, Boston, USA 1986 US-certification (ECFMG) 1986 - 1987 Medical Fellow, Harvard University (Brigham and Women´s Hospital) Boston 1987 Board Certification in Austria : Nephrology 1987 Associate Professor of Medicine 1991 Professor of Medicine, Tenure since 1991 Director, Nephrology Intensiv Care Programme Vienna General Hospital, Vienna, Austria 1995 Board certification: Intensive Care Medicine Research Focus : Metabolism and nutrition in the critically ill, in patients with renal failure, development of the first dipeptide-containing amino acid solution worldwide and of many nutritional programs, intravenous lipids, acute renal failure, continuous renal replacement therapies, general infusion therapy. Society (Founding) Member /Officer : Austrian Society of Clinical Nutrition (AKE)(president, responsible for publication of “nutritional recomendations“), Austrian Society of Medical Intensive Care Medicine (president, responsible for “consensus reports“) European, Society of Parenteral and Enteral Nutrition, European Society of Intensive Care Medicine Congress Organization : Numerous national and international seminars and workshops in the field of intensive care medicine, clinical nutrition, of acute renal failure Editor, Editorial Board : Editor-in-Chief of Wiener klinische Wochenschrift (The Middle European Journal of Medicine), founder and editor-in-chief of an intensive care newsletter (INTENSIV-News), editorial board of several national and international journals Manuscript Reviewer: Regular reviewer for the major journals in the fields of clinical nutrition, of nephrology and intensive care medicine. page 36 of 186
  37. 37. N094 PhD Study Program "Endocrinology and Metabolism" page 37 of 186
  38. 38. N094 PhD Study Program "Endocrinology and Metabolism" Manuela FÖDINGER Clinical Institute of Medical and Chemical Laboratory Diagnostics manuela.foedinger@meduniwien.ac.at Effect of iron therapy on cellular iron homeostasis - safety of iron therapy? Abstract Most patients with chronic renal failure must receive erythropoietic agents and iron to maintain a hemoglobin level above 11 g/dL. Intravenous iron is more effective than oral iron substitution. Intravenously iron is mainly supplied as iron sucrose and iron gluconate. However, non-transferrin bound labile iron can produce side effects possibly by affecting endothelial cells, polymorphonuclear leukocytes and cytokines. Moreover, labile iron may act as a catalytic agent in the formation of hydroxyl radicals, and could hence contribute to cell damage. Therefore, iron must be carefully administered intravenously, particularly when supplied in high doses. Data in the literature suggest that iron is an important factor in the process of atherosclerosis, but exact mechanisms are still unknown. The ‘iron hypothesis’ suggests that iron depletion protects against ischemic heart disease. Furthermore, iron promotes bacterial growth and thus is potentially related to infectious complications. End-stage renal disease patients require iron therapy to benefit from treatment with recombinant human erythropoietin or novel erythropoiesis stimulating proteins. Monitoring of iron status in these patients includes the determination of the percentage of hypochromic red blood cells and/or the reticulocyte hemoglobin content, in addition to ferritin serum concentration and transferrin saturation. Concerning safe and optimal correction of renal anemia by intravenous iron therapy the principal questions are to be answered are the following: Does intravenous iron application indeed contribute to 1) atherogenesis, 2) infectious disease, and 3) cell damage? A first step to clarify these issues is to identify genes that are responsive to intravenous iron therapy (i.e. up- or down-regulated genes). This is to be accomplished by using gene expression microarrays in cells isolated from chronic renal failure patients that have received intravenous iron or not. Identification of genes regulated by iron therapy will provide basic information to support or reject the hypothesis of an involvement of iron in atherogenesis, infections, and cell damage. Thesis Subjects Effects of intravenous iron therapy on gene expression in human cells Molecular effects of intravenous iron therapy on oxidative stress in human cells Techniques and infrastructure Cell culture, isolation of RNA, microarray analysis; quantitative real-time PCR; all required equipment available. page 38 of 186
  39. 39. N094 PhD Study Program "Endocrinology and Metabolism" Curriculum Vitae Manuela FÖDINGER Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria; Phone +43 1 40400 5388; Fax +43 1 40400 6752; Email manuela.foedinger@meduniwien.ac.at Personal Data Date of Birth: 09.02.1964 Place of Birth: Steyr, Austria Nationality Austria Education 1997 – present specialist in Laboratory Medicine 1990 International Diploma of Tropical Medicine 1982 – 1990 studies of Human Medicine 1974 – 1982 secondary school Career History 2004 – present Head of the section „Molecular Endocrinology, Pharmacology & Metabolism“ and medical head of the division „Endocrinology“ at the Clinical Institute of Medical and Chemical Laboratory Diagnostics 2000 – present associate Professor at the Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna 2000 “venia docendi” for Laboratory Medicine 1992 - present University Assistant, Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Vienna 1991 - 1992 Research fellow at the Institute of General and Experimental Pathology and the Institute of Specific Prophylaxis and Tropical Medicine at the (Medical) University of Vienna Career-related Activities 2001 – 2002 Postgraduate University Course for Medical Leaders at the University of Salzburg page 39 of 186
  40. 40. N094 PhD Study Program "Endocrinology and Metabolism" 2004 Section leader "Science and Development", Austrian Society for Clinical Chemistry Awards 2001 ERA-EDTA Award of the European Dialysis and Transplantation Association 1999 Preis der Österreichischen Gesellschaft für Nephrologie Award der National Kidney Foundation 1998 Young Investigator Award of the American Society of Transplant Physicians Best Scientific Abstract of the International Society of Peritoneal Dialysis 1996 Preis der Österreichischen Gesellschaft für Labormedizin Memberships Austrian Society for Endocrinology and Metabolism Austrian Society for Laboratory Medicine and Clinical Chemistry Austrian Society for Good Analyses and Laboratory Praxis Society for Nephrology Sources of funding (since 2000) Period Organization Short Title K€/yr 1998 – Else-Kröner- Effect of homocysteine on vascular 17.9 2001 Fresenius-Stiftung, endothelial cells Germany Supervision of doctoral students (since 2000) Name Title of thesis Period (expected) Acad.Title Anita Jallitsch Molecular background of 2007 – (2009) (Dr. Anderson-Fabry disease scient. med.) Publications 78 and 13 peer reviewed publications and reviews, resp., in scientific journals, 2 editorials, 3 book contributions Peer reviewed manuscripts since 2000 (original research and reviews) page 40 of 186
  41. 41. N094 PhD Study Program "Endocrinology and Metabolism" First, last or corresponding author manuscripts: Sunder-Plassmann G, Winkelmayer WC, Födinger M. 2006. Genetic aspects of hyperhomocysteinemia in chronic kidney disease. Semin Nephrol. 26:8-13. (review) Winkelmayer WC, Kramar R, Sunder-Plassmann G, Födinger M. 2005. Effects of single-nucleotide polymorphisms in MTHFR and MTRR on mortality and allograft loss in kidney transplant recipients. Kidney Int. 68:2857-62. Winkelmayer WC, Huber A, Wagner OF, Hörl WH, Sunder-Plassmann G, Födinger M. 2005. Associations between MTHFR 1793G>A and plasma total homocysteine, folate, and vitamin B in kidney transplant recipients. Kidney Int. 67:1980-5. Lorenz M, Kletzmayr J, Huber A, Hörl WH, Sunder-Plassmann G, Födinger M. 2005. Ironoverload in kidney transplants: prospective analysis of biochemical and genetic markers. Kidney Int. 67:691-7. Fritsche-Polanz R, Wallner M, Cohen G, Eberle C, Sunder-Plassmann G, Födinger M. 2004.Granulocyte function in patients with L-ferritin iron-responsive element (IRE) 39C-->T-positive hereditary hyperferritinaemia-cataract syndrome. Eur J Clin Invest. 34:701-8. Sunder-Plassmann G, Födinger M. 2004. Underuse of Hardy-Weinberg equilibrium. Kidney Int. 66:1711. (letter) Winkelmayer WC, Sunder-Plassmann G, Huber A, Födinger M. 2004. Patterns of co- occurrence of three single nucleotide polymorphisms of the 5,10 methylenetetrahydrofolate reductase gene in kidney transplant recipients. Eur J Clin Invest. 2004: 613-8. Feix A, Winkelmayer WC, Eberle C, Sunder-Plassmann G, Födinger M. 2004. Methionine synthase reductase MTRR 66A > G has no effect on total homocysteine, folate, and Vitamin B12 concentrations in renal transplant patients. Atherosclerosis. 2004 174:43-8. Födinger M, Sunder-Plassmann G. 2003. Low clinical penetrance of homozygosity for HFE C282Y: implications for genetic testing? Eur J Clin Invest. 33:737-9. (editorial) Födinger M, Veitl M, Skoupy S, Wojcik J, Rohrer C, Hagen W, Puttinger H, Hauser AC, Vychytil A, Sunder-Plassmann G. 2003. Effect of TCN2 776C>G on vitamin B12 cellular availability in end-stage renal disease patients. Kidney Int. 64:1095-100. Winkelmayer WC, Eberle C, Sunder-Plassmann G, Födinger M. 2003. Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients. Kidney Int. 63:2280-5. page 41 of 186
  42. 42. N094 PhD Study Program "Endocrinology and Metabolism" Födinger M, Dierkes J, Skoupy S, Röhrer C, Hagen W, Puttinger H, Hauser AC, Vychytil A, Sunder-Plassmann G. 2003. Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients. J Am Soc Nephrol. 14:1314-9. Sunder-Plassmann G, Födinger M. 2003. Genetic determinants of the homocysteine level. Kidney Int Suppl. 84:S141-4. (review) Sunder-Plassmann G, Kittler H, Eberle C, Hirschl MM, Woisetschlager C, Derhaschnig U, Laggner AN, Hörl WH, Födinger M. 2002. Angiotensin converting enzyme DD genotype is associated with hypertensive crisis. Crit Care Med. 30:2236- 41. Sunder-Plassmann G, Födinger M. 2002. Cost-effectiveness of homocysteine- lowering therapy to prevent coronary heart disease. JAMA. 287:190. (letter) Tröndle U, Sunder-Plassmann G, Burgmann H, Buchmayer H, Kramer L, Bieglmayer C, Hörl WH, Födinger M. 2001. Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. Acta Med Austriaca 28:145-51. Feix A, Fritsche-Polanz R, Kletzmayr J, Vychytil A, Hörl WH, Sunder-Plassmann G, Födinger M. 2001. Increased prevalence of combined MTR and MTHFR genotypes among individuals with severely elevated total homocysteine plasma levels. Am J Kidney Dis. 38:956-64. Födinger M, Buchmayer H, Heinz G, Papagiannopoulos M, Kletzmayr J, Perschl A, Vychytil A, Hörl WH, Sunder-Plassmann G. 2001. Association of two MTHFR polymorphisms with total homocysteine plasma levels in dialysis patients. Am J Kidney Dis. 38:77-84. Fritsche-Polanz R, Jordan JH, Feix A, Sperr WR, Sunder-Plassmann G, Valent P, Födinger M. 2001. Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. Br J Haematol. 113:357-64. Födinger M, Sunder-Plassmann G. 2001. Increased cysteine plasma levels in kidney transplants: a potential vascular disease risk factor? Transplantation. 71:713-5. Födinger M, Wagner OF, Hörl WH, Sunder-Plassmann G. 2001. Recent insights into the molecular genetics of the homocysteine metabolism. Kidney Int Suppl. 78:S238- 42. (review) Sunder-Plassmann G, Winkelmayer WC, Födinger M. 2000. Therapeutic potential of total homocysteine-lowering drugs on cardiovascular disease. Expert Opin Investig Drugs. 9:2637-51. (review) Buchmayer H, Sunder-Plassmann G, Hirschl MM, Kletzmayr J, Woisetschlager C, Laggner AN, Hörl WH, Födinger M. 2000. G-protein beta3 subunit gene (GNB3) page 42 of 186
  43. 43. N094 PhD Study Program "Endocrinology and Metabolism" polymorphism 825C-->T in patients with hypertensive crisis. Crit Care Med. 28:3203- 6. Födinger M, Buchmayer H, Heinz G, Papagiannopoulos M, Kletzmayr J, Rasoul- Rockenschaub S, Hörl WH, Sunder-Plassmann G. 2000. Effect of MTHFR 1298A-->C and MTHFR 677C-->T genotypes on total homocysteine, folate, and vitamin B(12) plasma concentrations in kdiney graft recipients. J Am Soc Nephrol. 11:1918-25. Floth A, Sunder-Plassmann G, Födinger M. 2000. Polymerase chain reaction amplification of bacterial 16s rRNA in biopsy samples. Urology. 55:788-9. (letter) Sunder-Plassmann G, Floth A, Födinger M. 2000. Hyperhomocysteinemia in organ transplantation. Curr Opin Urol. 10:87-94. (review) Födinger M, Fritsche-Polanz R, Buchmayer H, Skoupy S, Sengoelge G, Hörl WH, Sunder-Plassmann G. 2000. Erythropoietin-inducible immediate-early genes in human vascular endothelial cells. J Investig Med. 48:137-49. Födinger M, Hörl WH, Sunder-Plassmann G. 2000. Molecular biology of 5,10- methylenetetrahydrofolate reductase. J Nephrol. 13:20-33. (review) Co-author manuscripts: Steiner S, Winkelmayer WC, Kleinert J, Grisar J, Seidinger D, Kopp CW, Watschinger B, Minar E, Hörl WH, Födinger M, Sunder-Plassmann G. 2006. Endothelial progenitor cells in kidney transplant recipients. Transplantation. 81:599-606. Schaeffner ES, Födinger M, Kramar R, Frei U, Hörl WH, Sunder-Plassmann G, Winkelmayer WC. 2006. Prognostic associations between lipid markers and outcomes in kidney transplant recipients. Am J Kidney Dis. 47:509-17. Lechner K, Födinger M, Grisold W, Puspok A, Sillaber C. 2005. Vitamin B12 deficiency. New data on an old theme. Wien Klin Wochenschr. 117:579-91. (review) Schaller G, Scheiber-Mojdehkar B, Wolzt M, Puttinger H, Mittermayer F, Hörl WH, Födinger M, Sunder-Plassmann G, Vychytil A. 2005. Intravenous iron increases labile serum iron but does not impair forearm blood flow reactivity in dialysis patients. Kidney Int. 68:2814-22. Tylicki L, Födinger M, Puttinger H, Rutkowski P, Strozecki P, Tyszko S, Rutkowski B, Hörl WH. 2005. Methylenetetrahydrofolate reductase gene polymorphisms in essential hypertension relation: with the development of hypertensive end-stage renal disease. Am J Hypertens. 18:1442-8. Hauser AC, Gessl A, Lorenz M, Voigtlander T, Födinger M, Sunder-Plassmann G. 2005. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease. J Inherit Metab Dis. 28:715-22. Krokowski M, Sotlar K, Krauth MT, Födinger M, Valent P, Horny HP. 2005. page 43 of 186

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