Veidlapa Nr. M-3 (8)

Study Course Description

General Paediatrics and Neonatology

Main Study Course Information

Course Code

RGN_026

Branch of Science

Clinical medicine; Medicinal Genetics

ECTS

15.00

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 introduce the medical genetics resident to the most common problems encountered in a general paediatrics and especially neonatal clinics, differential diagnostics and treatment options for common childhood diseases.

Learning Outcomes

Knowledge

1.During the study course, medical genetics resident acquires basic knowledge of general paediatrics and especially neonatology.

Skills

1.As a result of completing the study course, the 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 examination results, make judgements about the prognosis of the disease, treatment and tactics of 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. The medical genetics resident is able to draw up an appropriate examination 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

Title	% from total grade	Grade
1. Individual work	-	-
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.

Examination

Title	% from total grade	Grade
1. Examination	-	-
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.

Study Course Theme Plan

FULL-TIME

Part 1

Seminar

Modality	Location
-	-

Topics

Assessment of the general paediatric condition in different age groups.

Seminar

Modality	Location
-	-

Topics

Disease specifics in childhood

Seminar

Modality	Location
-	-

Topics

Endocrine diseases in general paediatrics, differential diagnosis thereof and indications for additional genetic investigations

Seminar

Modality	Location
-	-

Topics

Morphofunctional features of full-term, pre-term, post-term and immature newborns Adaptation of a newborn

Seminar

Modality	Location
-	-

Topics

Rheumatological diseases in paediatric practice, differential diagnosis thereof and indications for additional genetic investigations

Seminar

Modality	Location
-	-

Topics

Kidney and urinary tract diseases in paediatric practice, differential diagnosis thereof and indications for additional genetic investigations

Seminar

Modality	Location
-	-

Topics

Gastroenterological diseases in general paediatrics, differential diagnosis thereof and indications for additional genetic investigations

Total ECTS (Creditpoints):

15.00

Number of Residency Seminars:

Length (weeks):

Final Examination:

Residency exam (Theory and practice)

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, 2nd edition. In Preimplantation Genetic Diagnosis. 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

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

Other Information Sources

OMIM. https://omim.org

Orphanet. https://www.orpha.net/consor/cgi-bin/index.php

Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/

Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer

Varsome. https://varsome.com/

Reprotox. https://www.reprotox.org/

Metagene. https://www.metagene.de/

Vademecum Metabolicum. http://www.vademetab.org/

Metabolic Emergency Protocol. https://www.emergencyprotocol.net/