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
  • 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
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
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)
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
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