Veidlapa Nr. M-3 (8)
Study Course Description
Intensive Care
Course Code
RGN_007
Branch of Science
Anatomy; Clinical medicine
ECTS
4.05
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Daiga Mūrmane
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Daiga Mūrmane
Contacts
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About Study Course
Objective
Teach a resident medical genetics to evaluate and observe the dynamics of patients with severe, congenital structural and metabolic defects, according to the determined treatment algorithm. To provide emergency assistance.
Learning Outcomes
Knowledge
1.During the study course within the time the medical genetics resident learn the basics of intensive care patients with congenital structural or metabolic disorders therapeutics.
Skills
1.Completion of study course medical genetics resident will appreciate the new-born child's general health, physical indicators, will be able to evaluate the laboratory and imaging results, to judge the prognosis, treatment and follow-up tactics, to provide emergency assistance to navigate the intensive care unit equipment.
Competences
1.After successful completion of the course of medical genetics resident reaches the minimum competence. A resident of knowledge with the overall preikšstatam for newborn, child development, investigation. Able to establish a diagnosis, appropriate investigation plan mean examinations. Knowledge of the given problem are sufficient to understand the nature of the diagnosis and, if necessary, provide emergency assistance specialist in leadership to realize the diagnosis, treatment and prevention
Assessment
Individual work
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Individual work |
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Examination
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Examination |
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Topics
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Seminar
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Modality
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Location
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Topics
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Total ECTS (Creditpoints):
4.05
Number of Residency Seminars:
2
Length (weeks):
3
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
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
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: Sixth Edition. https://doi.org/10.1002/9781444314342, 2010
3.
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
4.
Harper, J. C. Preimplantation genetic diagnosis, second edition. In Preimplantation Genetic Diagnosis, Second Edition. https://doi.org/10.1017/CBO9780511581571, 2009
5.
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
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
16.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
17.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
18.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
19.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
20.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
5.
Varsome. https://varsome.com/
6.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education. 2017
7.
Reprotox. https://www.reprotox.org/
8.
Metagene. https://www.metagene.de/
9.
Vademecum Metabolicum. http://www.vademetab.org/
10.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
11.
12.
Treat NMD. https://treat-nmd.org/
13.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503