Unit BIOMEDICAL SCIENCES

MEDICAL GENETICS

Code	GP003922
CFU	1
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	15 ore - Antonio Orlacchio
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/03
Type of study-unit
Language of instruction	Italian
Contents	Structural and functional organization of the human genome. DNA mutations and their correlation with: i) mode of inheritance; ii) diagnostic procedures; iii) pathogenetic role; iv) clinical manifestations. Classification of genetic diseases (Mendelian inheritance, multifactorial, chromosomal, and mitochondrial). Atypical inheritance. Taking care of the patient and/or the family with hereditary disease: "genetic counseling." General and specific criteria with reference to the different clinical conditions. Genetic counseling aimed to prenatal diagnosis, before and after genetic testing. Preimplantation diagnosis. The causal treatment of genetic diseases.
Reference texts	Genetica umana e medica Authors: Neri Giovanni, Genuardi Maurizio Publisher: Edra Masson (4th Edition - 2017) Genetica & Genomica nelle scienze mediche Authors: Strachan Tom, Read Andrew P. Publisher: UTET (3rd Edition - 2021) Genetica medica essenziale Authors: Dalla Piccola Bruno, Novelli Giuseppe Publisher: CIC (3rd Edition - 2012)
Educational objectives	To know the contents and methods of communication of the genetic counseling. To recognize the clinical manifestations of the major classes of genetic diseases with prenatal and post-natal care. To be able to correlate the clinical phenotype with the corresponding biological causal factors (phenotype-genotype correlation) with the following purposes: 1) setting of an analytical path, 2) identification of mutations responsible for the disease (etiologic diagnosis) and 3) interpretation of the results for diagnostic purposes, assessment of prognosis, and clinical follow-up, 4) risk assessment procreative and relatives of the proband (risk of recurrence), based on the model of inheritance; 5) planning of interventions aimed to prevention (prenatal diagnosis).
Prerequisites	The student must have argued with success the examination of "Physiology, Biochemistry, and Applied Biology". Furthermore, must have acquired a good research methodology.
Teaching methods	The teaching will be carried out with face-to-face lessons that will cover the entire program of study.
Other information	Oral explanations will be coadiuvated by PowerPoint presentations. Summaries of these presentations, other additional didactic materials and possible updatings and communications, will be made available to students, in pdf format for download, through a dedicated homepage of the University of Perugia. During the whole Academic Year, students may request by e-mail personal reception to the teacher.
Learning verification modality	The examination will consist in an oral test on the topics listed in the syllabus.
Extended program	- Introduction to the course - Organization and changes in the human genome - Methods for molecular analysis of nucleic acids - Human Chromosomes and mechanisms of formation of chromosomal abnormalities - Cytogenetics techniques - Mendelian inheritance and fundamental principles of medical genetics - Atypical mechanisms of inheritance - Genetic counseling - Chromosome number abnormalities - Chromosomal structural abnormalities - Abnormalities of the sex chromosomes - Monogenic diseases - Multifactorial diseases - Disorders related to CFTR gene - Congenital defects

MICROBIOLOGY AND CLINICAL MICROBIOLOGY

Code	50252602
CFU	2
Teacher	Silvia Bozza
Teachers	Silvia Bozza
Hours	30 ore - Silvia Bozza
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/07
Type of study-unit
Language of instruction	Italian
Contents	General bacteriology General Vitology General mycology General parasitology Pathogenesis microbiome Special bacteriology in obstetric-gynecological infections Special Virology in obstetric-gynecological infections Special Mycology in obstetric-gynecological infections Special Protozoology in obstetric-gynecological infections Clinical Microbiology The vaginal swab, the cervical swab, the rectal swab, the urethral swab.
Reference texts	Murray et al. Medical Microbiology, 8th edition, Elsevier.
Educational objectives	The midwife must follow the patient who is in charge both in health facilities and at home, in relation to sexual and health education and prophylaxis of infectious diseases both in the period before conception and during gestation, delivery, puerperium and regarding any infectious problems of the newborn. For this purpose basic knowledge of Microbiology with particular regard is indispensable to the physiology of the genital flora resident in relation to the menstrual cycle, to infections a sexual transmission and methods to diagnose them. It is also necessary to know the biology of the microorganisms most frequently involved in maternal-fetal infections and the current possibilities of direct and indirect diagnosis of them. It is also important to know the microbiological risks of manual or surgical obstetric-gynecological interventions not only in relation to the procreative moment but also for the consequences at a distance for the woman. Another aspect of pre-eminent microbiological interest is menopause with all physiopathological changes of the resident flora that it entails. Picking techniques for microbiological examinations, the methods of disinfection of the instruments, especially outpatient, as well as rudiments on the use of antibiotics and vaccines are an element professionally indispensable.
Prerequisites	Knowledge of Biology, Immunology and Anatomy.
Teaching methods	Face-to-face lessons and laboratory practice
Other information	Training at the clinic of the Complex Structure of Microbiology.
Learning verification modality	Oral examination
Extended program	The world of microorganisms The basic structure of the bacterial cell (cell wall of Gram + and Gram bacteria, Cytoplasm, Nucleus, Cytoplasmic membrane, Mesosomes) The optional structures of the bacterial cell (pili, flagella, capsule, spore), Bacterial metabolism Nutrition, culture media for bacteria Bacterial genetics (genetic exchange between bacteria, Conjugation, Transduction, Transformation), Plasmids, Transposons, Insertion sequences, Recombinant DNA technology) Transmission paths of microorganisms Pathogenesis and virulence factors of bacteria (Capsules, Adhesins, Toxins, Esoenzymes). General Virology: Structure of viruses Viral replication Viral pathogenesis General Mycology The Miceti structure Metabolism The pathogenesis of mycetes General protozoology The structure of protozoa Metabolism Pathogenesis, concepts of parasitism. The Communal Microbial Flora The Immune System Primary and secondary lymphoid organs Innate immunity Acquired or specific immunity (Mediated cellular immunity and humoral response) Cooperation between the cells of the immune system Hypersensitivity of first, second, third and fourth types Vaccines Sera Serological tests (Antibody titre, seroconversion) Antibacterials, Antivirals, Antifungal, Antiprotozoari The antibiogramma Disinfection and sterilization Special bacteriology in obstetric-gynecological infections Streptococcus agalactiae Neisseria gonorrhoeae Treponema pallidum Mycoplasma spp. Ureaplasma spp. Chlamydia trachomatis The vaginal microbiome Special Virology in obstetric-gynecological infections Parvovirus Hepatitis A virus, B, C, D, E HPV Herpes virus Rhinovirus HIV Togavirus Special Mycology in obstetric-gynecological infections Candida albicans Special Protozoology in obstetric-gynecological infections Trichomonas vaginalis Toxoplasma gondii Sexually transmitted diseases (MST) Obstetric-gynecological infections: Vaginosis, Vaginitis, Vulvovaginitis, Urretitis, Cervicitis, Salpingitis, etc ... Clinical Microbiology The vaginal swab, the cervical swab, the rectal swab, the urethral swab

GENERAL PATHOLOGY

Code	50562602
CFU	2
Teacher	Giuseppe Servillo
Teachers	Giuseppe Servillo
Hours	30 ore - Giuseppe Servillo
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/04
Type of study-unit
Language of instruction	Italian
Contents	- Molecular Pathology - Major genetic diseases - Diseases to environmental causes - Cellular pathology and cell death - Inflammation - Molecular Oncology - Elements of the pathophysiology of organs and apparatuses
Reference texts	1. G.M. Pontieri. Patologia e fisiopatologia generale. Per i corsi di laurea in professioni sanitarie. Piccin 2.Spector. Introduzione alla Patologia Generale, Casa editrice Ambrosiana 3. Pontieri. Patologia generale, Piccin 4. Robbins. Le basi patologiche delle malattie, Elsevier
Educational objectives	- Molecular Pathology - Major genetic diseases - Diseases to environmental causes - Cellular pathology and cell death - Inflammation - Molecular Oncology - Elements of the pathophysiology of organs and apparatuses mainly related to pregnancy.
Prerequisites	In order to understand and know how to apply most of the knowledge provided by the teaching it is important to have successfully defended the exams of the first year of the degree course. The student must in fact possess the knowledge of the processes that take place within the cell and within and between the various organs and body systems. Students must know the basics of the profession of midwifery.
Teaching methods	Frontal lectures. The lectures are on the whole program of the course of study, but are also on specialized topics that emerge from the specific needs of learners, all in a view of a highly vocational intent of the course. Each lesson has a duration of two hours on a specific topic, but relating it to others already exposed, to allow the student to have an integrated vision.
Learning verification modality	According to the demands of the students, even though it is integrated, the exam includes an oral testing the pipeline for the form of Microbiology and Clinical Microbiology and a final examination of General Pathology with a final score derived from the mediation between the votes obtained in the two modules. The oral tests consist of discussions lasting 30 minutes on average on 3 questions, designed to ascertain: - Level of knowledge of the topics - Ability of understanding, connection and integration of informations -Capacity and exhibition of language
Extended program	1. Introduction to the concept of health and disease. The field of interest of the general pathology. 2. The communication between cells. The structural basis of communication. The cellular signaling: endocrine, autocrine and paracrine. Interactions between cells and matrix. Pathology of cellular signaling. 3. The cell damage and adaptive mechanisms. Causes and mechanisms of intrinsic cellular damage (genetic diseases. Mendelian diseases. Polygenic diseases. Diseases cytogenetics. The molecular diagnosis of genetic diseases and genomics-based) and environmental diseases (Environmental Pollution. Damage to chemical and physical agents. Nutritional diseases. The diseases infectious. Teratogenicity). Morphological and molecular aspects of cell damage. The answer to the subcellular damage. The cellular adaptation. Hypertrophy and ipotrofie. Cell death. 4. Elements of immunology and immunopathology. The acute and chronic inflammation. Acute inflammation. Vascular changes. Cellular events: the exudation and leukocyte phagocytosis. The chemical mediators of inflammation. Chronic inflammation: definition and causes. The role of the lymphatic system and lymphoid tissue in inflammatory processes. Systemic manifestations of the inflammatory process. 5. The healing process. The cell cycle and the control of cell proliferation. The repair to scar. Mechanisms of wound healing. Pathology of healing process. Integration of inflammatory and reparative processes. 6. The tumor and cell transformation. Definitions and nomenclature. Characteristics of benign and malignant neoplasms. Malignancies. Cancer epidemiology. Carcinogenesis and the molecular basis of cancer. Biology of the neoplastic proliferation. Etiology of cancer: carcinogens. 7. Essentials of pathophysiology of the blood, the endocrine system, the cardiovascular system, liver, respiratory system, urogenital system.