Veidlapa Nr. M-3 (8)
Study Course Description
Pathological Anatomy
Course Code
RGN_029
Branch of Science
Clinical medicine; Medicinal Genetics
ECTS
4.00
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 resident of medical genetics to navigate self-anatomical diagnoses, the possibilities of pathological anatomy in the diagnosis of hereditary diseases.
Learning Outcomes
Knowledge
1.During the study course within the time the medical genetics resident acquire basic knowledge of pathological anatomy.
Skills
1.Completion of study course medical genetics resident will be able to analyze the autopsy findings.
Competences
1.After successful completion of the course of medical genetics resident reaches the minimum competence. As a result of study course, the medical genetics resident will be able to analyse the autopsy report.
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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-
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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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-
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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 the medical genetics resident is assessed in a 10-point system after the written test, with the assessment 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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-
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-
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Topics
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The importance of pathanatomical findings in clarifying the possible genetic pathology.
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Total ECTS (Creditpoints):
4.00
Number of Residency Seminars:
1
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, 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. In Preimplantation Genetic Diagnosis, 2nd Edition, 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.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies, 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.
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.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education, 2017
Other Information Sources
1.
OMIM.
2.
Orphanet.
3.
Genereviews.
4.
Phenomizer. HPO.
5.
Varsome.
6.
Reprotox.
7.
Metagene.
8.
Vademecum Metabolicum.
9.
Metabolic Emergency Protocol.
10.
NDC.
11.
Treat NMD.
12.
NCCN Guidelines.