Unit PATHOLOGY, EPIDEMIOLOGY AND HEALT EDUCATION

MEDICAL GENETICS

Code	GP003922
CFU	1
Teacher	Anair Graciela Lema Fernandez
Teachers	Anair Graciela Lema Fernandez
Hours	12 ore - Anair Graciela Lema Fernandez
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/03
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	- Structural and functional organization of genetic material - Elements of cell biology - Types of mutations - Germinal and somatic origin of hereditary characters - Genetics of transmission and expression - Genetics in Medicine - Cytogenetics - Chromosome analysis techniques - Numerical and structural anomalies -Main techniques for the search for mutations in DNA -Mendel's laws and modes of transmission of characters with simple Mendelian inheritance -Autosomal dominant and recessive inheritance -X-linked inheritance -Main characteristics of mitochondrial DNA and matrilineal inheritance -Uniparental disomy - Imprinting and bases of epigenetics - Phenotypic effect of mutations - Fundamental principles of medical genetics - Interaction between genes Genetic counseling, types of genetic tests and calculation of reproductive risk - Examples of genetic pathologies associated with speech disorder
Reference texts	Genetica Medica Essenziale, Dallapiccola B, Novelli G, 2012.
Educational objectives	The main objective of the teaching is to provide students with the theoretical principles useful for acquiring basic notions on medical genetics and its applications. The main knowledge acquired will be: the structural and functional organization of the human genome. The mechanisms underlying chromosomal, genomic and monogenic pathologies. Understanding the patterns of Mendelian inheritance and its exceptions. Outline the differences between genetic, polygenic and multifactorial diseases. Acquire the basic knowledge to understand the fundamentals of the clinical and diagnostic approach of genetic testing in Medical Genetics. Acquire basic principles on genetic diagnosis procedures and their applications. Application hints to the genetics of deafness and language delay.
Prerequisites	The course requires basic biology knowledge (The fundamental molecules of biology, notions on the cell structure, cell cycle, etc.)
Teaching methods	Lectures on all subjects of the couse.
Other information
Learning verification modality	Written test (multiple choice and open questions)
Extended program	Part I: Biological basis of human genetics - Structural and functional organization of genetic material - Elements of cell biology - Types of mutations - Germinal and somatic origin of hereditary characters - Genetics of transmission and expression - Genetics in Medicine Part II: Genetic basis of inheritance - Cytogenetics - Chromosome analysis techniques: classical and molecular cytogenetics (FISH, CGH-array) - Numerical chromosomal anomalies - Structural chromosomal anomalies - Molecular basis of chromosomal and genomic anomalies (CNV) - Main techniques to identify DNA mutations Part III: Mendelian inheritance and atypical mechanisms of inheritance - Mendel's laws and modalities of transmission of characters with simple Mendelian inheritance - Autosomal dominant inheritance - Autosomal recessive inheritance - X-linked inheritance; Inactivation of the X chromosome - Main characteristics of mitochondrial DNA and matrilineal inheritance - Uniparental disomy - Genomic imprinting and basis of epigenetics Part IV: Functional aspects - Phenotypic effect of mutations: molecular interpretation of Mendelism - Fundamental principles of medical genetics: pleiotropism; penetrance; expressiveness; genetic heterogeneity: allelic and locus -Interaction between genes: epistaxis; digenic, oligogenic and polygenic pathology Part V: Diagnosis and prevention of genetic diseases - Genetic counseling, types of genetic tests and calculation of reproductive risk - Application examples in speech therapy

GENERAL AND APPLIED HYGIEN

Code	GP003919
CFU	1
Teacher	Chiara De Waure
Teachers	Chiara De Waure
Hours	12 ore - Chiara De Waure
Learning activities	Caratterizzante
Area	Scienze della prevenzione dei servizi sanitari
Academic discipline	MED/42
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Definition of health and public health, definition and classification of health determinants and preventive interventions. The role of epidemiology in public health. Epidemiology and prevention of communicable and non communicable diseases.
Reference texts	Ricciardi W et al. [Editor]. Igiene per le lauree triennali e magistrali. Idelson Gnocchi 2019
Educational objectives	The aim of the course is to provide students with the knowledge and skills to analyse population health and needs and to properly use preventive interventions.
Prerequisites	Knowledge of secondary school biology
Teaching methods	Lectures
Learning verification modality	Oral test
Extended program	Definition of health and public health, definition and classification of health determinants. Natural history of disease. Prevention: definition, aims, levels (primary, secondary and tertiary) and methods. The role of the epidemiology in the health planning: epidemiological measures and approaches to the study of health. Epidemiology and prevention of communicable diseases: direct (disinfection, sterilization, notification, contingency measures, diagnostic assessment, vaccines) and indirect methods. Epidemiology and prevention of non-communicable diseases: health education and promotion and screening.

GENERAL PATHOLOGY

Code	GP003920
CFU	2
Teacher	Marina Maria Bellet
Teachers	Claudio Costantini (Codocenza) Marina Maria Bellet
Hours	12 ore (Codocenza) - Claudio Costantini 12 ore - Marina Maria Bellet
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/04
Type of study-unit	Obbligatorio (Required)

GENERAL, CLINICAL AND PEDIATRIC NURSING

Code	GP003921
CFU	1
Teacher	Mirella Giontella
Teachers	Mirella Giontella
Hours	12 ore - Mirella Giontella
Learning activities	Base
Area	Primo soccorso
Academic discipline	MED/45
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	HYGIENE AND PREVENTION OF INFECTIONS IN CARE SETTINGS 2. VITAL PARAMETERS 3. CAPILLARY SAMPLING PROCEDURE FOR BLOOD GLUCOSE OR HEMOGLUCOTEST 4. SIMPLE FLAT DRESSINGS 5. DISABILITY, IMMOBILITY 6. CONVULSIONS IN THE CHILD
Reference texts	L. Saiani, A. Brugnolli " Treatise on Nursing" I-II Vol. 3rd Edition Idelson-Gnocchi 2021 Recommended reads: - L. Mortari, L. Saiani Gestures and care thoughts - McGraw Hill – Milan 2013
Educational objectives	Identify situations that require hand washing; use standard precautions correctly, including the application and removal of personal protective equipment; Define vital parameters and detection procedures Know the physiological values of vital parameters in adults/children; Know the procedure for making a glicermic stick; Know how to make simple dressings on adults/children; Learn about techniques for mobilizing the carer in bed, in an armchair and in a wheelchair; Know the care procedures on the child with seizures.
Prerequisites	no requirement
Teaching methods	lectures tutorials
Other information	None
Learning verification modality	oral exam
Extended program	1. HYGIENE AND PREVENTION OF INFECTIONS IN CARE SETTINGS • Reference legislation • Requirements Personal Protective Equipment (PPE), employer obligations, worker obligations, classification of biological agents • Gloves: types, requirements and indications • Masks: types, requirements and indications • Glasses and face protectors: types, requirements and indications • Gowns: types, requirements and indications Footwear: types and requirements • How to wear PPE and how to remove PPE • PPE for different care settings with positive COVID -19 assisted - HAND WASHING AND CARE-RELATED INFECTIONS (ICA) • Bacterial flora: transient, resident • Transmission: 5 sequential transmission conditions • ICA: epidemiology, causes, main pathogens, consequence • Hand washing: when, 5 key who moments, difficulty • Types of washing: social, antiseptic, alcoholic clutch • Exercises 2. VITAL PARAMETERS • Blood pressure: definition, reference range, alterations and detection • Heart rate: definition, detection sites, detection mode • Respiratory rate: definition, alterations, detection • Body temperature: definition, sites, alterations, detection • Small group tutorial 3. CAPILLARY SAMPLING PROCEDURE FOR BLOOD GLUCOSE OR HEMOGLUCOTEST • Tutorial 4. SIMPLE FLAT DRESSINGS • Wound: definition, types of wounds, classification • Excoriation: definition, type of dressing, how to medicate • Cutting wounds: definition, type of dressing, how to medicate • Simple dressing: general objectives 5. DISABILITY, IMMOBILITY • Techniques for mobilising the assisted person with mobility deficits 6. CONVULSIONS IN THE CHILD • Seizures: definition, difference with epilepsy, main causes • Febrile seizures: types, classification • How to manage a convulsion