Veidlapa Nr. M-3 (8)
Study Course Description
Pediatric Neurology
Course Code
RGN_033
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
6.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Madara Rēdele
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
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About Study Course
Objective
To introduce the medical genetics resident to the most common problems encountered in a child neurology clinic, differential diagnostics and treatment options for common childhood diseases.
Learning Outcomes
Knowledge
1.During the study course, medical genetics resident acquires basic knowledge ofchild neurology.
Skills
1.As a result of this study course, medical genetics resident will be able to assess the overall condition of a newborn or a child, physical indicators and psychomotor development; able to assess the results of laboratory and radiologic exam results, reason on illness prognosis, treatment and tactics of further care.
Competences
1.Resident’s knowledge corresponds the overall understanding of development and examination of a newborn or a child. The resident is able to create an examination plan appropriate for setting the diagnosis, to prescribe examinations. Knowledge of the given issue is sufficient to understand its essence, to diagnose and provide with emergency assistance, when necessary, to realize diagnostics, treatment, and preventive measures under the guidance of a specialist.
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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Search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases. Using evidence-based databases of scientific literature, create an individualized description of the disease for patients with 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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|---|---|---|
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1.
Examination |
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The teacher at the end of the cycle: 1. Evaluates the practical skills of the medical genetics resident using a 10-point system, recording the evaluation in the resident's book. 2. The theoretical knowledge of a medical genetics resident is evaluated in a 10-point system after a written test - a multiple-choice test, with the evaluation recorded in the resident's book.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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Topics
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Genetically determined epileptic syndromes in newborns, children and adolescents
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Seminar
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Modality
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Location
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-
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Topics
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Neuromuscular diseases. Muscular dystrophies. Differential diagnosis. Genetic investigation. Therapy options
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Seminar
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Modality
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Location
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-
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Topics
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Neuromuscular diseases. Spinal muscular atrophy. Differential diagnosis. Therapy options
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Seminar
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Modality
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Location
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Topics
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Myopathies. Metabolic myopathies. Differential diagnosis. Genetic investigation. Therapy options
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Total ECTS (Creditpoints):
6.00
Number of Residency Seminars:
4
Length (weeks):
4
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: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 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. In Preimplantation Genetic Diagnosis, 2nd 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.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
18.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
19.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
20.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014
21.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
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.
Reprotox. https://www.reprotox.org/
6.
Metagene. https://www.metagene.de/
7.
Vademecum Metabolicum. http://www.vademetab.org/
8.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
9.
10.
Treat NMD. https://treat-nmd.org/
11.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503
12.
Varsome. https://varsome.com/