INTERNAL MEDICINE III AND COMMUNITY MEDICINE - NO EXAM
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- Versione italiana
- Academic year
- 2020/2021
- Teacher
- STEFANO VOLPATO
- Credits
- 4
- Didactic period
- Primo Semestre
Training objectives
- The course of Internal Medicine III consists of three modules: Geriatrics, Community medicine, and Medical genetics.
The geriatrics module aims to provide:
Theoretical and practical knowledge of the pathophysiology, clinical and therapeutic approach of the main diseases of the elderly and geriatric syndromes.
Theoretical and practical knowledge of the clinical and diagnostic approach to older patients with particular reference to the multidimensional geriatric assessment
Description of age-related and gender-related differences in demography and age-related pathophysiologic changes to understand the relevance of aging patterns and determinants of the quality of life of an elderly person.
The module of community medicine aims to provide the knowledge of the general principles of the organization and structure of the national health system with specific focus on the organization of local health companies and the Department of primary care, addressing also the issue of territorial continuity of care. The role of the primary care physician and the pediatrician will be discussed.
The module of medical genetics aims at providing the basic concepts of population and medical genetics, concepts of association analysis, Mendel's laws and deviations, analysis of genomic associations, concepts of evolution of the species, migrations, clinical genetics and genetic visitation, including prescription, execution, interpretation and return of laboratory genetic tests, prenatal, postnatal genetic counseling and applied bioinformatics, new high parallelism genetic diagnostics techniques, genetic engineering in medicine, examples, hereditary models, diagnosis and prevention and clinical genetics of Mendelian genetic diseases and complex, including chromosomal syndromes, imprinting defects, genetic embryological pathologies, prenatal diagnosis, pharmacogenetics, new therapies for rare genetic diseases.
Knowledge and understanding
At the end of the course the student will know the main biological mechanism underlying the aging process and the most common geriatric syndromes. The student will also know the clinical and social characteristics of the geriatrics patient and method of the comprehensive geriatric assessment , along with the concept of transition and continuity of care.
At the end of the course the student will know the organization of the organization of the National Health system, of the Local health companies, and of the department of primary care. The student will also understand the role of the primary care physician and of the pediatricians in the local health care system
At the end of the course the student will get the knowledge of the basics of human and medical genetics applied to medicine, clinical and laboratory pathways of genetic tests and their interpretation, concepts of new gene and molecular therapies
Applying knowledge and understanding:
At the end of the course the student will be able to
-properly recognize the main geriatric syndromes;
-perform and correctly utilize the results of a basic comprehensive geriatric assessment;
-recognize the expressed and unexpressed needs of the geriatric patient and plan a tailored assistential plan
- properly utilize the different settings and service of the department of primary care to guarantee the optimal transition and continuity of care
-manage and conduct an essential diagnostic path of genetic diagnosis, both clinical and instrumental,
-direct the patient to an optimization of the diagnostic path,
-apply the fundamentals of medical genetics and the main stages of research in medical genetics
- orient oneself in a clinical diagnosis and related genetic tests in a genetic or genetic-based pathology Prerequisites
- Modules of Geriatrics and Community medicine:
Passing the exam of Internal medicine II and medical therapy
Modulo di Genetica Medica:
In-depth knowledge of the fundamentals of human genetics and populations, physiology, general pathology, pathological anatomy, systematic medical pathology and general and special pharmacology. Course programme
- SYSTEM BIOLOGY:
Networks and molecular interactions. Network study and pathway and interactome analysis. High-throughput technologies and fields of application
PRENATAL, POSTNATAL, PRECONCEPTIONAL GENETIC CONSULTATION, APPLIED GENETIC AND BIOINFORMATIC VISIT, GENETIC SCREENING CONCEPTS
GENETIC ENGINEERING APPLICATIONS IN MEDICINE:
Animal models. Conditional mutagenesis. Molecular and gene therapy. Concepts of the therapeutic use of stem cells
MEDICAL GENETICS METHODS: STANDARD AND HIGH RESOLUTION CYTOGENETICS, MOLECULAR GENETICS (CGH) AND massive GENOMIC SEQUENZIAMNTO.
CHROMOSOMIC SYNDROMES AND GENOMIC DISORDERS:
Array-CGH and cryptic chromosomal rearrangements. Diagnostic approach to intellectual disability. Abnormalities of the sex chromosomes
GENOMIC IMPRINTING DEFECT DISEASES:
Concepts of epigenetics in medical genetics, Angelman syndrome. Prader-Willi syndrome. Genomic imprinting and medically assisted procreation
DYNAMIC MUTATION DISEASES:
Fragile X chromosome syndrome. Myotonic dystrophy. Huntington's disease. Kennedy disease. Friedreich's ataxia. Autosomal dominant spino-cerebellar ataxias
GENETIC-BASED NEUROMUSCULAR DISEASES:
Spinal muscular atrophies. Amyotrophic lateral sclerosis (ALS). Muscular dystrophies. Hereditary peripheral neuropathies
GENETIC DEFECTS OF EMBRYONIC DEVELOPMENT:
Homeobox and Hedgehog genes. Defects in limb development. HEREDITARY PRIMARY CARDIOMYOPATHIES:
Hypertrophic cardiomyopathy. Left ventricular non-compaction. Dilated cardiomyopathy. Arrhythmogenic heart disease
phakomatosis:
Neurofibromatosis. Tuberous sclerosis. Von Hippel-Lindau disease.
HEMOGLOBINOPATHIES AND TALASSEMIE
CONGENITAL ERRORS OF METABOLISM:
GENETIC Deafness
GENETIC AND GENETIC CARDIOPATHIES
GENETIC EPILEPSIES
GENETIC NEURODEGENERATIVE DISEASES (ALZHEMER, AMYOTROPHIC LATERAL SLCEROSIS, PARKINSON)
GENE CFTR-RELATED PATHOLOGIES AND CYSTIC FIBROSIS AND GENETIC BASES OF INFERTILITY:
DISORDERS OF SEXUAL DEVELOPMENT:
Determination of gonadal sex and differentiation of phenotypic sex
Genetic causes of infertility
PRENATAL DIAGNOSIS OF GENETIC DISEASE:
Chorionic villus sampling. Amniocentesis. Cordocentesis. Cytogenetic analysis, Molecular analysis. Preimplantation genetic diagnosis. Future developments: non-invasive prenatal diagnosis
GENETIC BASES OF RESPONSE TO DRUGS:
Pharmacogenetics and pharmacogenomics. Pharmacogenetics and personalized medicine
Examples of polygenic pathologies (multiple sclerosis, amyotrophic lateral sclerosis, breast cancer). Genetic study models of polygenic diseases (networking models, GWAS genome wide association studies and next generation platforms). Health impact of genomics. Didactic methods
- Class lectures and online teaching on the moodle certification platform for more detailed study of topics already addressed in class.
Learning assessment procedures
- The learning verification will be carried out by a written exam, lasting 60 to 90 minutes, without the use of notes or books or personal multimedia support, in the presence of the teachers. The test will be formulated with 40 multiple-choice questions (4-5 multiple-choice) relating to all the educational goals. A penalty for wrong answers will be given. A minimum score of 18 out of 30 will be required to pass the exam. The maximum grade, equal to 30 cum laude, is obtained by those who will answer all the questions correctly. The number of questions on each topic will be proportional to the weight of the single module.
Reference texts
- GERIATRIA
R. Antonelli Incalzi: Manuale di Geriatria, EDRA
G. Zuliani S. Volpato: Lezioni di Geriatria e Gerontologia. Universitas Studiorum
GENETICA MEDICA
GENETICA UMANA E MEDICAG. Neri, M. Genuardi, (QUARTA EDIZIONE)
Edra Edizioni
