Unit SYSTEMIC PATHOLOGY I
- Course
- Medicine and surgery
- Study-unit Code
- GP005550
- Curriculum
- In all curricula
- CFU
- 11
- Course Regulation
- Coorte 2020
- Offered
- 2022/23
- Type of study-unit
- Obbligatorio (Required)
- Type of learning activities
- Attività formativa integrata
DIAGNOSTICS IN ENDOCRINO-METABOLIC DISEASES
Code | GP005627 |
---|---|
CFU | 1 |
Teacher | Paolo Sportoletti |
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
- Daniele Sorcini (Codocenza)
- Hours
- 10.5 ore - Paolo Sportoletti
- 2 ore (Codocenza) - Daniele Sorcini
- 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
Cognomi M-Z
- CFU
- 1
- Teacher
- Paolo Sportoletti
- Teachers
- Paolo Sportoletti
- Hours
- 12.5 ore - Paolo Sportoletti
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
- Riccardo Calafiore
- Hours
- 25 ore - Alberto Falorni
- 5 ore - Riccardo Calafiore
Cognomi M-Z
- CFU
- 2
- Teacher
- Carmine Giuseppe Fanelli
- Teachers
- Carmine Giuseppe Fanelli
- Hours
- 25 ore - Carmine Giuseppe Fanelli
- Language of instruction
- Italian
HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1
Code | GP005624 |
---|---|
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, 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 |
---|---|
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, 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 |
---|---|
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) |
Language of instruction | Italian |
Contents | Knowledge of anatomy, physiology, biochemistry of the kidney. Lab, imaging, and clinical evaluation of: Hydro-Electrolytic Disorders Kidney involvement in systemic disorders Primary and secondary Nephropathies Acute Renal Failure Chronic Renal failure |
Reference texts | - Harrison's Principles of Internal Medicine Ed. McGraw Hill 19th edition; - Cecil Textbook of Medicine, 25th Edition, 2016; - Johnson R, Feehally J, Floege J, Tonelli M. Comprehensive Clinical Nephrology 6th Edition, Elsevier 2018. |
Educational objectives | The main aim of the course, is to provide evidence-based knowledge of the main medical diseases of the kidney and urinary tract. Ability to define the degree of renal function, to understand the major lab and diagnostics tests and ability in defining a diagnostic pathway. Knowledge of the main methods of renal replacement therapy: dialysis and transplantation. At the end of the course the student will be able to: 1) Know aetiology, pathogenesis, clinical manifestations, complications and prognosis of the main renal diseases. 2) Evaluate correctly patient history and physical examination in order to classify the nephropathy. 3) Interpret lab tests and diagnostic investigations in order to diagnose kidney diseases. 4) Know the main pathological pictures of glomerulonephritis, vascular, tubulo-interstitial and cystic diseases of the kidney. 5) Know the complications of kidney and urinary tract diseases and the physiopathology and clinical aspects of renal failure, including renal replacement therapy (dialysis and transplantation). |
Prerequisites | Knowledge of Anatomy and Physiology of kidney and urinary tract |
Teaching methods | Frontal lessons with audio-visual aids and open discussion in the classroom, practice in smaller groups in outpatient clinics, wards and dialysis and transplant center. Lessons will be provided in presence, subject to any ministerial changes following the COVID pandemic situation |
Other information | For further details or queries, contact the Professor by e-mail |
Learning verification modality | The assessment of achieved objectives will be verified by oral examination |
Extended program | Nephrology Pathophysiology and clinical Nephrology WATER AND ELECTROLYTES DISORDERS Sodium and fluid retention, oedema pathogenesis; volume depletion Hyponatremia and Hypernatremia Potassium and acid-base equilibrium disorders Disorders of calcium/phosphorus and Mg KIDNEY AND URINARY TRACT INFECTION Acute and chronic pyelonephritis MALFORMATIVE/HEREDITARY DISEASES Polycystic, medullary sponge, nephronophthisis ACUTE KIDNEY INJURY Classification, aetiology and pathogenesis Clinical aspects, diagnosis and prevention CHRONIC KIDNEY DISEASE Aetiology, physiopathology, metabolic alterations Prevention and monitoring: populations at risk, renal disease progression factors and measures to halt worsening Renal replacement therapy (haemodialysis, peritoneal dialysis, transplantation) Gender differences in prevalence, clinical manifestations, outcome, treatment response of nephropathies and chronic kidney disease will be specifically addressed. Palliative care for patients with advance chronic kidney disease and pain management in patients with chronic kidney disease will also be handled. |
PROFESSIONALISING TRAINING IN ENDOCRINOLOGY AND METABOLISM DISEASES
Code | GP005630 |
---|---|
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
- Alberto Falorni
- Teachers
- Alberto Falorni
- Hours
- 25 ore - Alberto Falorni
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 |
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