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	Obbligatorio (Required)
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 (5th Edition - 2024) 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
Obiettivi Agenda 2030 per lo sviluppo sostenibile

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	Obbligatorio (Required)
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	P.R. Murray, K.S. Rosenthal, M. A. Pfaller. MICROBIOLOGIA MEDICA - nona edizione. Edra Masson Sherris Microbiologia Medica, 2012, EMSI Editore Lessons' slides
Educational objectives	The purpose of this course is to provide students with the contents and skills necessary to understand the causes, pathogenesis, and prevention actions of the main diseases in particular regard of obstetric-gynecological. In this regard, the fundamental aspects of infections, the diagnostic procedures, the prophylaxis, and the therapy of the infections will be discussed.
Prerequisites	Knowledge of Biology, Immunology and Anatomy.
Teaching methods	The course will be held through lectures
Other information	Compulsory attendance
Learning verification modality	The oral examination will last at least 20 minutes, divided into 2 questions relating to the topics covered in class. A third question on the minimum indispensable knowledge can be made in the case of an unsatisfactory answer to the 2 questions. FINAL GRADE: average of the grades of the individual teachings.
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 Bacterial genetics (genetic exchange between bacteria, Conjugation, Transduction, Transformation), Plasmids, Transposons, Insertion sequences 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 The pathogenesis of mycetes General protozoology The structure of protozoa Pathogenesis, concepts of parasitism. The Communal Microbial Flora Vaccines Sera Serological tests (Antibody titre, seroconversion) Disinfection and sterilization Special bacteriology in obstetric-gynecological infections: Streptococcus agalactiae, Neisseria gonorrhoeae, Treponema pallidum, Mycoplasma spp. Ureaplasma spp., Chlamydia trachomatis, Listeria monocytogenes. The vaginal microbiome Special Virology in obstetric-gynecological infections: Parvovirus B19, Hepatitis A virus, B, C, D, E, HPV, Herpesvirus, 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 Clinical Microbiology. The vaginal swab, the cervical swab, the rectal swab, the urethral swab

GENERAL PATHOLOGY

Code	50562602
CFU	2
Teacher	Andrea Bartoli
Teachers	Andrea Bartoli
Hours	30 ore - Andrea Bartoli
Learning activities	Base
Area	Scienze biomediche
Academic discipline	MED/04
Type of study-unit	Obbligatorio (Required)