Unit SYSTEMIC PATHOLOGY I

DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES

Code	GP005886
Location	TERNI
CFU	1
Teacher	Paolo Sportoletti
Teachers	Paolo Sportoletti
Hours	12.5 ore - Paolo Sportoletti
Learning activities	Affine/integrativa
Area	Attività formative affini o integrative
Sector	MED/50
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	- Polymerase chain reaction (PCR) - Real-Time PCR - Direct Sanger Sequencing - Cytogenetics and molecular cytogenetics - Flow Cytometry in the Diagnosis and Follow Up of diseases
Reference texts	Bibliographic references indicated during the lesson and indexed on Pubmed, a database collector, with an internal search engine (ENTREZ) and a web interface (www.pubmed.gov) for bibliographic citations of articles scientific. materials and/or assessment methodologies consistent with the needs of disabled and/or DSA students are available
Educational objectives	Ability to understand the techniques and the meaning of molecular diagnostic investigations. Ability to interpret the result of molecular laboratory tests related to specific diseases.
Prerequisites	To be able to understand and face the course, the student must have passed with huge success the exam preparatory described in the regulation on the degree course.
Teaching methods	Lectures, class discussions, visualization and commentary of images and laboratory procedures. materials and/or assessment methodologies consistent with the needs of disabled and/or DSA students are available
Learning verification modality	Oral exam of approximately 15 minutes consisting of 2 questions regarding the methods used in molecular diagnostics: 1 question on a specific technique (see program) and 1 on the interpretation of a molecular report related to a specific pathology Final mark: arithmetic mean of the marks obtained in the individual disciplines materials and/or assessment methodologies consistent with the needs of disabled and/or DSA students are available
Extended program	- Polymerase chain reaction (PCR) - Real-Time PCR - Direct Sanger Sequencing - Cytogenetics and molecular cytogenetics - Flow Cytometry in the Diagnosis and Follow Up of diseases

ENDOCRINOLOGY AND METABOLISM DISEASES

Code	GP005885
Location	TERNI
CFU	2
Teacher	Giovanni Luca
Teachers	Giovanni Luca
Hours	25 ore - Giovanni Luca
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Sector	MED/13
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	The course focuses on the etiopathogenetic, pathophysiological, clinical, diagnostic and therapeutic aspects of diabetes mellitus and the main diseases affecting the pituitary gland, the thyroid gland, calcium-phosphorus metabolism and bone, the adrenal glands, the diffuse endocrine system and neuroendocrine cells. Diseases of the gonads are instead dealt with in the course of Molecular Diagnostics of Endocrine-Metabolic Diseases.
Reference texts	Harrison - Principi di Medicina Interna, 20a Edizione BARBONETTI COCCIA - Lezioni di Endocrinologia, Esculapio, 2023 GIUGLIANO- Endocrinologia e malattie del metabolismo, Edizioni Idelson Gnocchi, 2023
Educational objectives	Provide students with the knowledge necessary to classify and recognize the main endocrine and metabolic diseases. Provide the tools to correctly apply the diagnostic and differential diagnostic processes. Provide information on primary and secondary prevention and principles of therapy.
Prerequisites	Prerequisites for the course are adequate knowledge of the anatomy, biochemistry and physiology of the endocrine glands and metabolism.
Teaching methods	The course in organized as follows:-lectures on all subjects of the course. Presentation of clinical cases.
Other information	The attendance is compulsory at least 70% of lessons. Piazz.le L. Severi, Sant'Andrea delle Fratte, 06132, Perugia. For information, clarification and to set up a reception time, please contact via e-mail: giovanni.luca@unipg.it
Learning verification modality	The exam include an oral exam of Histology and Embriology (almost three questions, about 20 minutes) to assess logical and knowledge competence learning and the ability to interpret data. The oral test are aimed at verifying that the student is able to communicate, with method, propriety of language and of exposure.¿For information on support services for students with disabilities and/or DSA visit http://www.unipg.it/disabilita-e-dsa
Extended program	- Physiology and pathophysiology of the hypothalamic-pituitary system¿- Pituitary adenomas¿- Hypopituitarisms¿- Hyperprolactinaemia¿- Acromegaly¿- Diabetes insipidus¿- Physiology and pathophysiology of the thyroid gland¿- Hypothyroidism¿- Hyperthyroidism¿- Thyroiditis¿- Endemic goiter and sporadic goiter¿- Thyroid nodules¿- Physiology and pathophysiology of calcium-phosphorus metabolism¿- Primary, secondary and tertiary hyperparathyroidism¿- Hypoparathyroidism¿- Hypercalcemia¿- Osteoporosis¿- Osteomalacia¿- Physiology and pathophysiology of the adrenal glands¿- Cushing's syndrome¿- Primary (Addison's disease) and secondary adrenocortical insufficiency¿- Primary (Conn's disease) and secondary hyperaldosteronisms¿- Renovascular arterial hypertension¿- Adrenogenital syndromes¿- Pheochromocytoma¿- Multiple endocrine neoplasia types 1 and 2¿- Physiology and pathophysiology of intermediate metabolism¿- Hypoglycemic syndromes¿- Type 1 diabetes mellitus¿- Type 2 diabetes mellitus¿- Treatment of diabetes mellitus¿- Acute complications of diabetes mellitus (Diabetic Ketoacidosis and Hyperglycemic-Hyperosmolar Syndrome)¿- Chronic complications of diabetes mellitus (Microangiopathic: retinopathy, nephropathy and retinopathy. Macroangiopathic. Diabetic foot)
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Zero poverty, health and well-being, gender equality.

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1

Code	GP005882
Location	TERNI
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	25 ore - Antonio Orlacchio
Learning activities	Base
Area	Discipline generali per la formazione del medico
Sector	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 (5th Edition - 2024) Genetica & Genomica nelle scienze mediche Authors: Strachan Tom, Read Andrew P. Publisher: UTET (3rd Edition - 2021) Genetica Medica Authors: Dallapiccola Bruno, Novelli Giuseppe Publisher: Edizioni Scientifiche Falco (4th Edition - 2022)
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 and population genetics - 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
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Quality education

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 2

Code	GP005883
Location	TERNI
CFU	2
Teacher	Antonio Orlacchio
Teachers	Antonio Orlacchio
Hours	25 ore - Antonio Orlacchio
Learning activities	Caratterizzante
Area	Discipline pediatriche
Sector	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 (5th Edition - 2024) Genetica & Genomica nelle scienze mediche Authors: Strachan Tom, Read Andrew P. Publisher: UTET (3rd Edition - 2021) Genetica Medica Authors: Dallapiccola Bruno, Novelli Giuseppe Publisher: Eidzioni Scientifiche Falco (4th Edition - 2022)
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 and population genetics - 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
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Quality education

NEPHROLOGY

Code	GP005887
Location	TERNI
CFU	2
Teacher	Giacomo Pucci
Teachers	Giacomo Pucci
Hours	25 ore - Giacomo Pucci
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Sector	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	METHOD OF CONDUCTING THE EXAM: Oral test lasting approximately 15 minutes divided into 2 questions, 1 of which relating to the classification of the patient with renal failure and 1 relating to the remaining pathologies. Any further questions relating to the minimum knowledge necessary for the management of nephrological pathologies may be asked in the event of an unsatisfactory answer to the 2 previous questions. TESTING OF CLINICAL SKILLS: interpretation of laboratory or instrumental data VERIFICATION OF THE SKILLS ACQUIRED DURING THE INTERNSHIP: description of a diagnostic or therapeutic process, collection of medical history METHOD OF ALLOCATION OF THE FINAL MARK: arithmetic mean of the marks acquired in the individual modules
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
Obiettivi Agenda 2030 per lo sviluppo sostenibile

PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLIC DISEASES

Code	GP005888
Location	TERNI
CFU	1
Teacher	Giovanni Luca
Teachers	Giovanni Luca
Hours	25 ore - Giovanni Luca
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Sector	MED/13
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	Presentation and discussion of clinical cases.
Reference texts
Educational objectives	Prerequisites for the course are adequate knowledge of the anatomy, biochemistry and physiology of the endocrine glands and metabolism.
Prerequisites	Prerequisites for the intership are adequate knowledge of the anatomy, biochemistry and physiology of the endocrine glands and metabolism.
Teaching methods	Intership in ambulatory. Presentation and discussion of clinical cases.
Other information	The attendance is compulsory. Viale Tristano di Joannuccio, 05100 Perugia. For information, contact via e-mail: giovanni.luca@unipg.it
Learning verification modality
Extended program
Obiettivi Agenda 2030 per lo sviluppo sostenibile	Zero poverty, health and well-being, gender equality.

PROFESSIONALISING TRAINING IN NEPHROLOGY

Code	GP005889
Location	TERNI
CFU	1
Teacher	Giacomo Pucci
Teachers	Giacomo Pucci
Hours	25 ore - Giacomo Pucci
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Sector	MED/14
Type of study-unit	Obbligatorio (Required)