Psychosomatic Medicine
Study Course Implementer
Residency Speciality
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About Study Course
Objective
Learning Outcomes
Knowledge
1.Burn-out syndrome risk factors, preventive measures, principles of ethics in doctor-patient relationships, various degrees of psychosomatic reactions in stress situations; how to inform a patient about an incurable disease, borderline personality, formation thereof and defences used, neurotic personality, formation thereof and defences used.
Skills
1.Medical genetics patient must be able to define the ethical and psychological issues.
Competences
1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. The medical resident’s knowledge corresponds to the general notion of the doctor-patient relationship building model, the ability to differentiate the patient’s level of functioning and to comply with basic ethical principles.
Assessment
Individual work
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Title
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% from total grade
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Grade
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1.
Individual work |
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To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases. Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.
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Examination
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Title
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% from total grade
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Grade
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1.
Examination |
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At the end of the course, teaching staff: 1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book. 2. Assesses the theoretical knowledge of the medical genetics resident on a 10-point scale after a written examination – a multiple-choice test, recording the assessment in the medical resident’s book.
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Study Course Theme Plan
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Seminar
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Modality
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Location
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Topics
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Doctor-patient relationship in genetic counselling. Risks of physician burnout syndrome
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Bibliography
Required Reading
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. https://doi.org/10.1002/9781444314342, 2010
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018
Harper, J. C. Preimplantation genetic diagnosis. In Preimplantation Genetic Diagnosis, 2nd Edition. https://doi.org/10.1017/CBO9780511581571, 2009
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
Other Information Sources
OMIM. https://omim.org
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
Varsome. https://varsome.com/
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier.2017
Reprotox. https://www.reprotox.org/
Vademecum Metabolicum. http://www.vademetab.org/
Metagene. https://www.metagene.de/
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
Treat NMD. https://treat-nmd.org/
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503