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INTERNAL MEDICINE III AND COMMUNITY MEDICINE - NO EXAM

Academic year and teacher
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Versione italiana
Academic year
2019/2020
Teacher
STEFANO VOLPATO
Credits
4
Didactic period
Primo Semestre

Training objectives

INTERNAL MEDICINE
Theoretical and practical knowledge of the clinical and diagnostic elderly patients with particular reference to the multidimensional geriatric assessment
Theoretical and practical knowledge of the pathophysiology, clinical and therapeutic approach of the main diseases of the elderly and geriatric syndromes. Describe age-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.
MEDICAL GENETICS
Acquire the basic concepts of medical genetics, including the interpretation of complex biological systems, genetic counseling and bioinformatics applied, the new techniques of genetic diagnostics with high parallelism, genetic engineering in medicine, examples, hereditary patterns, diagnosis and prevention and genetics clinic Mendelian and complex genetic diseases, including chromosomal syndromes, defects of imprinting, embryological genetic diseases, prenatal diagnosis, pharmacogenetics, new therapies for rare genetic diseases.
COMMUNITY MEDICINE
Knowledge of the general principles of the organization and structure of the national health system. Knowledge of the organization and operation of the Department of Primary Care. Organization and function of care with particular reference to the territorial continuity of care. Introduction to palliative care.The role of the primary care physician.

Prerequisites

Knowledge of preclinical disciplines

Course programme

INTERNAL MEDICINE
Demography and epidemiology of aging. Biology of aging. Aging of organs and systems. The geriatric patients: specific characteristics. Comprehensive geriatrics assessment. Geriatrics care organization. Disability. Dementia. Delirium. Depression. Falls. Bed-rest syndrome and pressure ulcers. Malnutrition and dehydration. Sarcopenia. Geriatrics pharmacology: interactions and adverse drug reactions.
All topics will be dealt with and developed in the light of gender differences in order to favor the student's development of a customized clinical approach to the specificity and peculiarities of the individual patient
MEDICAL GENETICS
SYSTEMS BIOLOGY: Networks and molecular interactions. Study and analysis of networks pathwaye interactome. High-throughput technologies and application areas
GENETIC COUNSELING AND APPLIED BIOINFORMATICS:
GENETIC ENGINEERING APPLICATIONS IN MEDICINE: Animal models. Transgenic mice and knock-out mice. Conditional mutagenesis. Gene therapy. Successes and failures: some examples, stem cells
SYNDROMES CHROMOSOMAL DISORDERS AND GENOMIC: Chromosomal abnormalities. Abnormalities of number. Abnormalities of structure. Genomic disorders. Array-CGH and cryptic chromosomal rearrangements. Diagnostic approach to intellectual disability. Sex chromosome abnormalities
DISEASES OF DEFECTS OF GENOMIC IMPRINTING: Angelman syndrome. Prader-Willi syndrome. Laboratory diagnosis. Genomic imprinting and medically assisted procreation
DISEASES OF CHANGES DYNAMICS: Classification of diseases by dynamic mutations. Fragile X syndrome. Myotonic dystrophy. Huntington's disease. Kennedy disease. Friedreich's ataxia. Spinocerebellar ataxias autosomal dominant cerebellar
NEUROMUSCULAR DISEASES ON GENETIC BASIS: Spinal muscular atrophies. ALS. Muscular dystrophies hereditary peripheral neuropathies
GENETIC DEFECTS EMBRYONIC DEVELOPMENT: Homeobox genes. The family of Hedgehog genes. Defects in limb development. Human studies. Developmental genes in the cerebral cortex
CARDIOMYOPATHIES PRIMARY HEREDITARY:
Hypertrophic cardiomyopathy. Left ventricular non-compaction. Dilated cardiomyopathy. arrhythmogenic heart disease
PHACOMATOSIS: Neurofibromatosis. Tuberous sclerosis. Von Hippel-Lindau.
Hemoglobinopathies and thalassemia. Inborn errors of metabolism. Related diseases in gene CFTR.
DEVELOPMENT SEXUAL DISORDERS: Sex determination and gonadal differentiation of phenotypic sex. Genetic causes of infertility
PRENATAL DIAGNOSIS OF GENETIC DISEASE: CVS. Amniocentesis. Cordocentesis. Cytogenetic analysis. Molecular analysis. DNA testing. Genetic counseling in prenatal diagnosis. Preimplantation genetic diagnosis. Future developments: the noninvasive prenatal diagnosis
GENETIC BASIS OF RESPONSE TO DRUGS: Pharmacogenetics and pharmacogenomics. Pharmacogenetics and personalized medicine
COMMUNITY MEDICINE
National health system: inspiring principles and general function; organization and management
Primary care department: health house and community hospital. Primary care physician: primary care unit. Palliative care.

Didactic methods

Lectures

Learning assessment procedures

The following partial tests are foreseen:
Modules of INTERNAL MEDICINE and MEDICINE OF THE TERRITORY
Written exam with 30 multiple choice questions with 5 possible answers. EVALUATION: 1 point per correct answer; 0 points for answers not given; -0.20 points for incorrect answer.
MEDICAL GENETICS
Oral exam, lasting at least 20 minutes; three questions, one of which on clinical genetics, one on genetics-laboratory diagnostics, one on rare diseases, ethical aspects and bioinformatics.
THE FINAL VOTE WILL BE ACQUIRED AT THE END OF THE SECOND SEMESTER AND WILL BE THE RESULT OF THE EVALUATION OF THE PARTIAL TESTS AND THE PERFORMANCE OF THE TRAINING SCHEDULES

Reference texts

INTERNAL MEDICINE
Senin, Cherubini, Mecocci, Paziente Anziano Paziente Geriatrico: Medicina della complessità. Fondamenti di Gerontologia e Geriatria, EdiSES
GENETICS
G. Neri, M. Genuardi, Genetica umana e medica, Edra Masson Ed. III edizione 2014
For exam cpt:
12, 13,14,15,16,17,18, 20,24,26,27,28,29,31,32,33
Pantry Statements on genetic counseling (online teaching site)
http://www.unife.it/medicina/lm.medicina/insegnamenti/medicina-interna-i/genetica-medica
COMMUNITY MEDICINE
Material suggested by the teacher