Unit SYSTEMIC PATHOLOGY I

DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES

Code	GP005627
Location	PERUGIA
CFU	1
Teacher	Paolo Sportoletti
Teachers	Paolo Sportoletti Daniele Sorcini (Codocenza)
Hours	10.5 ore - Paolo Sportoletti 2 ore (Codocenza) - Daniele Sorcini
Learning activities	Affine/integrativa
Area	Attività formative affini o integrative
Academic discipline	MED/50
Type of study-unit	Obbligatorio (Required)
Language of instruction	Italian
Contents	- Polymerase chain reaction (PCR) - Real-Time (PCR) - Direct Sanger Sequencing - cytogenetics - flow cytometry
Reference texts	Pubmed references will be indicated during the lesson
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	Face-to-face
Other information	N/A
Learning verification modality	Oral exam
Extended program	- Polymerase chain reaction (PCR) - Real-Time (PCR) - Direct Sanger Sequencing

ENDOCRINOLOGY AND METABOLISM DISEASES

Code	A001683
Location	PERUGIA
CFU	1
Teacher	Riccardo Calafiore
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)

Cognomi A-L

CFU

1

Teacher

Riccardo Calafiore

Teachers

• Riccardo Calafiore

Hours

• 12.5 ore - Riccardo Calafiore

Cognomi M-Z

CFU

1

Teacher

Carmine Giuseppe Fanelli

Teachers

• Carmine Giuseppe Fanelli

Hours

• 12.5 ore - Carmine Giuseppe Fanelli

Language of instruction

Italian

ENDOCRINOLOGY AND METABOLISM DISEASES - MOD. 2

Code	GP005626
Location	PERUGIA
CFU	1
Teacher	Riccardo Calafiore
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)

Cognomi A-L

CFU

1

Teacher

Riccardo Calafiore

Teachers

• Riccardo Calafiore

Hours

• 12.5 ore - Riccardo Calafiore

Cognomi M-Z

CFU

1

Teacher

Alberto Falorni

Teachers

• Alberto Falorni

Hours

• 12.5 ore - Alberto Falorni

HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1

Code	GP005624
Location	PERUGIA
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	GP005625
Location	PERUGIA
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	GP005628
Location	PERUGIA
CFU	2
Teacher	Gianpaolo Reboldi
Teachers	Gianpaolo Reboldi
Hours	25 ore - Gianpaolo Reboldi
Learning activities	Caratterizzante
Area	Clinica delle specialità medico-chirurgiche
Academic discipline	MED/14
Type of study-unit	Obbligatorio (Required)

PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLISM DISEASES

Code	GP005630
Location	PERUGIA
CFU	1
Teacher	Riccardo Calafiore
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Academic discipline	MED/13
Type of study-unit	Obbligatorio (Required)

Cognomi A-L

CFU

1

Teacher

Riccardo Calafiore

Teachers

• Riccardo Calafiore

Hours

• 25 ore - Riccardo Calafiore

Cognomi M-Z

CFU

1

Teacher

Alberto Falorni

Teachers

• Alberto Falorni

Hours

• 25 ore - Alberto Falorni

PROFESSIONALISING TRAINING IN NEPHROLOGY

Code	GP005631
Location	PERUGIA
CFU	1
Teacher	Gianpaolo Reboldi
Learning activities	Altro
Area	Tirocini formativi e di orientamento
Academic discipline	MED/14
Type of study-unit	Obbligatorio (Required)

Cognomi A-L

CFU

1

Teacher

Gianpaolo Reboldi

Teachers

• Gianpaolo Reboldi

Hours

• 25 ore - Gianpaolo Reboldi

Cognomi M-Z

CFU

1

Teacher

Gianpaolo Reboldi

Teachers

• Gianpaolo Reboldi

Hours

• 25 ore - Gianpaolo Reboldi