Veidlapa Nr. M-3 (8)
Study Course Description
Otorino-laryngology
Course Code
RGN_011
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
3.00
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
-
About Study Course
Objective
To teach the medical genetics resident to orient themselves in the problems of hearing loss, diagnosis, therapy options, to orient in syndromic and non-syndromic forms of hearing loss.
Learning Outcomes
Knowledge
1.During the time allotted for the study course, medical genetics resident acquires basic knowledge of syndromic and non-syndromic forms of hearing loss.
Skills
1.As a result of completing the study course, the medical genetics resident will be able to assess the forms of hearing loss, will be able to evaluate the results of laboratory and radiological examinations, interpret the findings of an audiogram, judge the prognosis of the disease, the tactics of treatment and further care.
Competences
1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. The medical resident’s knowledge corresponds the overall understanding of development and examination of a newborn or a child. Able to draw up an appropriate investigation plan for establishing a diagnosis, prescribe examinations. Knowledge of the specific problem is sufficient to understand its essence, to diagnose and, if necessary, provide emergency assistance, implement diagnostic, 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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|---|---|---|
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1.
Individual work |
-
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-
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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
|
Grade
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|---|---|---|
|
1.
Examination |
-
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-
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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
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Diagnosis of congenital syndromic and non-syndromic sensorineural hearing loss, differential diagnosis
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Seminar
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Modality
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Location
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|---|---|---|
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-
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-
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Topics
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Differential diagnosis of facial clefts, genetic examination and application of results in clinical practice
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Total ECTS (Creditpoints):
3.00
Number of Residency Seminars:
2
Length (weeks):
2
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, 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, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis, 2nd edition. In Preimplantation Genetic Diagnosis, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities, 2015
7.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
8.
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
9.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
10.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
11.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
12.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
13.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
14.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
15.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
16.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 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.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2.Springer, 2014
20.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
21.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
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.
Reprotox. https://www.reprotox.org/
7.
Metagene. https://www.metagene.de/
8.
Vademecum Metabolicum. http://www.vademetab.org/
9.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
10.
11.
Treat NMD. https://treat-nmd.org/
12.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503