Unit SYSTEMIC PATHOLOGY I

DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES

Code	GP005886
CFU	1
Teacher	Giovanni Luca
Learning activities	Affine/integrativa
Area	Attività formative affini o integrative
Academic discipline	MED/50
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Reference texts	Biotecnologie della riproduzione Umana, 1° edizione, dicembre 2012, Carocci Editore S.p.A. Roma; ISBN 978-88-7466-669-0
Educational objectives	The program will focus to clarify molecular, etiopathogenetic, epidemiological and diagnostic aspects of II and III level of endocrine diseases relating to the male and female reproductive apparatus
Teaching methods	Interactive frontal lessons. Presentation of clinical cases.
Learning verification modality	Oral Examination
Extended program	Molecular Diagnostics in Endocrine-Metabolic Diseases (Supplementary Didactic) 1) Diagnostics of II and III Level of infertility from "male factor" - seminological diagnostics; - immunological diagnostics; - microbiological diagnostics; - instrumental diagnostics; - genetic diagnostics; - cytopathological diagnostics. 2) Diagnostics of II and III Level of infertility from "female factor" - diagnosis of the ovarian reserve; - "utero-tubar" factor diagnostics; - molecular and genetic diagnostics of the female gamete.

ENDOCRINOLOGY AND METABOLISM DISEASES

Code	GP005885
CFU	2
Teacher	Efisio Puxeddu
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Teaching methods	Conventional
Learning verification modality	Oral Exam

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1

Code	GP005882
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	25 ore - Antonio Orlacchio
Learning activities	Base
Area	Discipline generali per la formazione del medico
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. Imprinting defects. 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 before and after genetic testing. 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.
Prerequisites	The student must have argued with success the examination of "General Pathology". Furthermore, must have acquired a good research methodology.
Teaching methods	The teaching will be carried out with face-to-face and practical 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 of an oral test on the topics listed in the syllabus.
Extended program	The Basics of Human Genetics - Introduction - 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 - Order of genes on chromosomes - Multifactorial characters and epigenetics - Genetic counseling Genetics in Clinical Practice - Chromosome number abnormalities - Chromosome structural abnormalities - Abnormalities of the sex chromosomes - Diseases by defects of genomic imprinting - Genetic basis of neurodegenerative diseases (monofactorial) - Genetic basis of neurodegenerative diseases (multifactorial) - Diseases by dynamic mutations - Genetics of neuromuscular diseases - Genetics of epilepsy - Genetics of mental retardation - Defects to the receptor fibroblasts growth factors - Hereditary diseases of the connective tissue - Phacomatosis - Inborn errors of metabolism - Disorders related to CFTR gene - Genetic defects of the sense organs - Disorders of sexual development - Congenital defects

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 2

Code	GP005883
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	25 ore - Antonio Orlacchio
Learning activities	Caratterizzante
Area	Discipline pediatriche
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. Imprinting defects. 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 before and after genetic testing. 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.
Prerequisites	The student must have argued with success the examination of "General Pathology". Furthermore, must have acquired a good research methodology.
Teaching methods	The teaching will be carried out with face-to-face and practical 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 of an oral test on the topics listed in the syllabus.
Extended program	The Basics of Human Genetics - Introduction - 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 - Order of genes on chromosomes - Multifactorial characters and epigenetics - Genetic counseling Genetics in Clinical Practice - Chromosome number abnormalities - Chromosome structural abnormalities - Abnormalities of the sex chromosomes - Diseases by defects of genomic imprinting - Genetic basis of neurodegenerative diseases (monofactorial) - Genetic basis of neurodegenerative diseases (multifactorial) - Diseases by dynamic mutations - Genetics of neuromuscular diseases - Genetics of epilepsy - Genetics of mental retardation - Defects to the receptor fibroblasts growth factors - Hereditary diseases of the connective tissue - Phacomatosis - Inborn errors of metabolism - Disorders related to CFTR gene - Genetic defects of the sense organs - Disorders of sexual development - Congenital defects

NEPHROLOGY

Code	GP005887
CFU	2
Teacher	Giacomo Pucci
Teachers	Giacomo Pucci
Hours	25 ore - Giacomo Pucci
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/14
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	The student will be provided with the essential elements to the general theoretical and practical knowledge of primitive and secondary diseases involving, from a medical point of view, the kidneys and the excretory pathways.
Reference texts	1- Malattie dei reni e delle vie urinarie - Schena - Selvaggi - Gesualdi - Battaglia. Ed McGraw-Hill 2- Nefrologia Medica – C. Ronco – II edizione. Ed. Piccin 3- Manuale di Nefrologia – G. Garibotto, R. Pontremoli – Ed. Minerva Medica 4- Harrison' s principles of internal medicine di Harrison - Jameson - Loscalzo - Fauci - Kasper - Hauser - Longo
Educational objectives	Knowledge of the basics of the main pathologies of nephrological interest in their acute and chronic phase. Knowledge of biochemical, instrumental and clinical investigations necessary for their diagnosis and outline of therapy. Knowledge of the elements of differential diagnosis relative to the clinical manifestation of the main pathologies of nephrological interest.
Prerequisites	Knowledge of anatomy, physiology, general pathology
Teaching methods	Frontal lessons
Other information	Other teaching material and any updates and communications will be made available to students through the dedicated website of the University of Perugia.
Learning verification modality	Oral interview
Extended program	Elements of anatomy and physiology. Nephrological semeiotics. Disorders of acid-base balance and electrolytes General information on glomerular nephropathies: - Classification of glomerular nephropathies. - Pathogenetic mechanisms of glomerular nephropathy. Nephrotic Syndrome: - GN with minimal injuries - Focal sclerosing GN - GN membranous Nephritic Syndrome: - Post streptococcal GN - IgA nephropathy Secondary glomerular nephropathies: - LES - Diabetic nephropathy - Monoclonal gammopathy of renal significance - amyloidosis - Associated ANCA vasculitis - Atheroembolic nephropathy Acute renal failure – acute kidney injury Chronic renal failure Dialysis and transplantation Adult Polycystic Disease Hereditary nephropathies Kidney and hypertension

PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLIC DISEASES

Code	GP005888
CFU	1
Teacher	Giovanni Luca
Teachers	Giovanni Luca
Hours	25 ore - Giovanni Luca
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Teaching methods	Intership

PROFESSIONALISING TRAINING IN NEPHROLOGY

Code	GP005889
CFU	1
Teacher	Giacomo Pucci
Teachers	Giacomo Pucci
Hours	25 ore - Giacomo Pucci
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Academic discipline	MED/14
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Participation in the professionalizing training in nephrology will allow you to develop the theoretical-practical skills for the recognition of the type of nephrological pathology and for the diagnostic setting by evaluating its symptoms, clinical signs, laboratory and instrumental examinations.
Reference texts	1- Malattie dei reni e delle vie urinarie - Schena - Selvaggi - Gesualdi - Battaglia. Ed McGraw-Hill 2- Harrison' s principles of internal medicine di Harrison - Jameson - Loscalzo - Fauci - Kasper - Hauser - Longo
Educational objectives	The student should gain the ability to understand the problems of the main nephrological pathologies through the evaluation of the nephrological patient, through the interpretation of the symptoms. He must know the metabolic and clinical alterations of acute and chronic renal failure, acid-base and hydrosaline balance.
Prerequisites	Knowledge of anatomy, physiology, general pathology
Teaching methods	Theoretical-practical exercises. Attendance at the Nephrology Department.
Other information	Other teaching material and any updates and communications will be made available to students through the dedicated website of the University of Perugia.
Learning verification modality	Oral interview
Extended program	Elements of anatomy and physiology. Nephrological semeiotics. Disorders of acid-base balance and electrolytes General information on glomerular nephropathies: - Classification of glomerular nephropathies. - Pathogenetic mechanisms of glomerular nephropathy. Nephrotic Syndrome: - GN with minimal injuries - Focal sclerosing GN - GN membranous Nephritic Syndrome: - Post streptococcal GN - IgA nephropathy Secondary glomerular nephropathies: - LES - Diabetic nephropathy - Kidney and myeloma - Associated ANCA vasculitis - Atheroembolic nephropathy Acute renal failure Chronic renal failure Dialysis and transplantation Adult Polycystic Disease Hereditary nephropathies: Kidney and hypertension