Unit SYSTEMIC PATHOLOGY I
- Course
- Medicine and surgery
- Study-unit Code
- GP005550
- Curriculum
- In all curricula
- CFU
- 11
- Course Regulation
- Coorte 2022
- Offered
- 2024/25
- Type of study-unit
- Obbligatorio (Required)
- Type of learning activities
- Attività formativa integrata
DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES
| Code | GP005627 |
|---|---|
| CFU | 1 |
| Learning activities | Affine/integrativa |
| Area | Attività formative affini o integrative |
| Academic discipline | MED/50 |
| Type of study-unit | Obbligatorio (Required) |
Cognomi A-L
- CFU
- 1
- Teacher
- Paolo Sportoletti
- Teachers
- Paolo Sportoletti
- Hours
- 12.5 ore - Paolo Sportoletti
- 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
Cognomi M-Z
- CFU
- 1
- Teacher
- Paolo Sportoletti
- Teachers
- Paolo Sportoletti
- Hours
- 12.5 ore - Paolo Sportoletti
- 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- Other information
N/A- 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 | A001683 |
|---|---|
| CFU | 2 |
| Learning activities | Caratterizzante |
| Area | Clinica delle specialità medico-chirurgiche |
| Academic discipline | MED/13 |
| Type of study-unit | Obbligatorio (Required) |
Cognomi A-L
- CFU
- 2
- Teacher
- Alberto Falorni
- Teachers
- Alberto Falorni
- Hours
- 25 ore - Alberto Falorni
- Language of instruction
- Italian
- Contents
- Pathophysiology and pathology of endocrine diseases. Diagnostics and therapy of endocrine e metabolic diseases.
- Reference texts
- Suggested text: Guida pratica di endocrinologia, Marco Boscaro Ed, Piccin, Padova 2019
- Educational objectives
- To give to the student essential information on ethiopathogenesis, pathophysiology, clinics, diagnostics and therapy of pathologies of endocrine glands.
- Prerequisites
- To have completed the biochemistry course
- Teaching methods
- Lessons by the professor. Practical exercises with the tutoring of experts at the outpatient clinic of endocrinology.
- Other information
- No additional information
- Learning verification modality
- Methods of final examination: A 20-minute discussion on two questions of which one on endocrinological topics and one on diabetological topics (see teaching program). A further question to evaluate essential knowledge may be formulated in the case of inadequate response to the first two questions. Evaluation of clinical competences: interpretation of hormonal analyses. Evaluation of competences acquired during practical training: description and interpretation of an imaging method or diagnostic procedure applied to endocrinology or of relevant clinical signs. Method of calculation of final score: arithmetic mean of scores obtained in each course.
- Extended program
- General principles of endocrinology. Definition and structure of hormones and receptors. Pathophysiology of adrenal cortex. Primary and secondary adrenal insufficiency. Congenital adrenal hyperplasia. Endocrine hypertension. Cushing's syndrome. Pheocromocytoma. primary hyperaldosteronism. Autoimmune polyendocrine syndromes. Pathophysiology of ovary. Precocious puberty and delayed puberty. Primary amenorrhea. Polycystic ovary syndrome. Primary ovarian insufficiency. Metabolism of vitamin D - Deficit of vitamin D. Primary and secondary Hyperparathyroidism. Pituitary incidentalomas. Hyperprolactinemia. Growth hormone. Acromegaly. Gh deficiency. Pathophysiology of antidiuretuc hormone. Diabetes insipidus. Pathophysiology of insulin deficiency. Pathogenesis of type 1 diabetes mellitus. Clinics and therapy of type 1 diabetes mellitus. Pathogenesis of type 2 diabetes mellitus. Pathophysiology of obesity and metabolic syndrome. Clinics and therapy of type 2 diabetes mellitus. Acute and chronic complications of diabetes mellitus. Hypoglycaemia.
Pathophysiology of thyroid. Thyroiditis. Hypothyroidism and hyperthyroidism. Thyroid nodules and thyroid cancer. Klinefelter's syndrome.
Cognomi M-Z
- CFU
- 2
- Teacher
- Carmine Giuseppe Fanelli
- Teachers
- Carmine Giuseppe Fanelli
- Hours
- 25 ore - Carmine Giuseppe Fanelli
HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1
| Code | GP005624 |
|---|---|
| CFU | 2 |
| Learning activities | Base |
| Area | Discipline generali per la formazione del medico |
| Academic discipline | MED/03 |
| Type of study-unit | Obbligatorio (Required) |
Cognomi A-L
- CFU
- 2
- Teacher
- Antonio Orlacchio
- Teachers
- Antonio Orlacchio
- Hours
- 25 ore - Antonio Orlacchio
- 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
- 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
Cognomi M-Z
- CFU
- 2
- Teacher
- Antonio Orlacchio
- Teachers
- Antonio Orlacchio
- Hours
- 25 ore - Antonio Orlacchio
- 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
- 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 | GP005625 |
|---|---|
| CFU | 2 |
| Learning activities | Caratterizzante |
| Area | Discipline pediatriche |
| Academic discipline | MED/03 |
| Type of study-unit | Obbligatorio (Required) |
Cognomi A-L
- CFU
- 2
- Teacher
- Antonio Orlacchio
- Teachers
- Antonio Orlacchio
- Hours
- 25 ore - Antonio Orlacchio
- 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
- 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
Cognomi M-Z
- CFU
- 2
- Teacher
- Antonio Orlacchio
- Teachers
- Antonio Orlacchio
- Hours
- 25 ore - Antonio Orlacchio
- 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
- 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 | GP005628 |
|---|---|
| CFU | 2 |
| Learning activities | Caratterizzante |
| Area | Clinica delle specialità medico-chirurgiche |
| Academic discipline | MED/14 |
| Type of study-unit | Obbligatorio (Required) |
Cognomi A-L
- CFU
- 2
- Teacher
- Gianpaolo Reboldi
- Teachers
- Gianpaolo Reboldi
- Hours
- 25 ore - Gianpaolo Reboldi
Cognomi M-Z
- CFU
- 2
- Teacher
- Gianpaolo Reboldi
- Teachers
- Gianpaolo Reboldi
- Hours
- 25 ore - Gianpaolo Reboldi
PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLISM DISEASES
| Code | GP005630 |
|---|---|
| CFU | 1 |
| 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
- Alberto Falorni
- Teachers
- Efisio Puxeddu (Codocenza)
- Hours
- 25 ore (Codocenza) - Efisio Puxeddu
Cognomi M-Z
- CFU
- 1
- Teacher
- Carmine Giuseppe Fanelli
- Teachers
- Carmine Giuseppe Fanelli
- Hours
- 25 ore - Carmine Giuseppe Fanelli
PROFESSIONALISING TRAINING IN NEPHROLOGY
| Code | GP005631 |
|---|---|
| CFU | 1 |
| 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