Unit SYSTEMIC PATHOLOGY I
- Course
- Medicine and surgery
- Study-unit Code
- GP005550
- Location
- PERUGIA
- Curriculum
- In all curricula
- CFU
- 11
- Course Regulation
- Coorte 2017
- Offered
- 2019/20
- Type of study-unit
- Obbligatorio (Required)
- Type of learning activities
- Attività formativa integrata
DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES
| Code | GP005627 |
|---|---|
| Location | PERUGIA |
| CFU | 1 |
| Teacher | Paolo Sportoletti |
| Teachers |
|
| Hours |
|
| 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 |
| 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 |
ENDORCINOLOGY AND METABOLISM DISEASES - MOD. 1
| Code | GP005629 |
|---|---|
| Location | PERUGIA |
| CFU | 1 |
| 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
- Carmine Giuseppe Fanelli
- Teachers
- Riccardo Calafiore (Codocenza)
- Hours
- 12 ore (Codocenza) - Riccardo Calafiore
Cognomi M-Z
- CFU
- 1
- Teacher
- Alberto Falorni
- Teachers
- Carmine Giuseppe Fanelli (Codocenza)
- Hours
- 12 ore (Codocenza) - Carmine Giuseppe Fanelli
ENDOCRINOLOGY AND METABOLISM DISEASES - MOD. 2
| Code | GP005626 |
|---|---|
| Location | PERUGIA |
| CFU | 1 |
| 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
- Carmine Giuseppe Fanelli
- Teachers
- Riccardo Calafiore (Codocenza)
- Hours
- 12 ore (Codocenza) - Riccardo Calafiore
Cognomi M-Z
- CFU
- 1
- Teacher
- Alberto Falorni
- Teachers
- Alberto Falorni
- Hours
- 12 ore - Alberto Falorni
HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1
| Code | GP005624 |
|---|---|
| Location | PERUGIA |
| CFU | 2 |
| Teacher | Antonio Orlacchio |
| Teachers |
|
| Hours |
|
| 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, Goodship Judit, Chinnery Patrick Publisher: Zanichelli (1st Edition - 2016) 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 a written test with multiple answer choices on the topics listed in the syllabus. |
| Extended program | - 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 - 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 |
|
| Hours |
|
| 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, Goodship Judit, Chinnery Patrick Publisher: Zanichelli (1st Edition - 2016) 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 a written test with multiple answer choices on the topics listed in the syllabus. |
| Extended program | - 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 - 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 |
|
| Hours |
|
| 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 |
| 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
- Carmine Giuseppe Fanelli
- Teachers
- Riccardo Calafiore (Codocenza)
- Hours
- 25 ore (Codocenza) - 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 |
| 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