Unit SYSTEMIC PATHOLOGY I
- Course
- Medicine and surgery
- Study-unit Code
- GP005550
- Curriculum
- In all curricula
- CFU
- 11
- Course Regulation
- Coorte 2021
- Offered
- 2023/24
- 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
- Hours
- 12.5 ore - Paolo Sportoletti
- 4 ore - 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
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
- Face-to-face
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
- flow cytometry - Obiettivi Agenda 2030 per lo sviluppo sostenibile
- Salute e benessere
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
- flow cytometry - Reference texts
- Pubmed references will be indicated during the lesson
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
- Face-to-face
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
- flow cytometry - Obiettivi Agenda 2030 per lo sviluppo sostenibile
- Salute e benessere
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 handbook: 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 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
- Language of instruction
- Italian
- Contents
Fisiopatologia e patologia delle ghiandole endocrine. Diagnostica e cenni di terapia delle patologie endocrine e metaboliche.- Reference texts
Guida pratica di endocrinologia, Marco Boscaro Ed, Piccin, Padova 2019.- Educational objectives
Obiettivi formativi Alla fine del corso i discenti dovranno conoscere i più importanti elementi clinico-laboratoristici per individuare le più importanti patologie endocrino-metaboliche.- Prerequisites
Lo studente deve: conoscere i meccanismi che regolano le attività metaboliche, la secrezione e l'azione dei vari ormoni.- Teaching methods
Lezioni frontali da parte del docente. Tirocinio pratico in ambulatorio di Endocrinologia- Other information
Nessuna informazione aggiuntiva- Learning verification modality
MODALITÀ DI SVOLGIMENTO DELL'ESAME: Prova orale della durata di 20 minuti articolata in 2 domande di cui una di argomento endocrinologico ed una di argomento diabetologico e metabolico. Un'ulteriore domanda sulle conoscenze minime indispensabili potrà essere fatta nel caso di risposta poco soddisfacente alle 2 domande precedenti. VERIFICA DELLE COMPETENZE CLINICHE: interpretazione di risultati di dosaggi ormonali. VERIFICA DELLE COMPETENZE ACQUISITE DURANTE IL TIROCINIO: descrizione ed interpretazione di una metodica strumentale o di procedura diagnostica applicata all'endocrinologia o di rilevanti segni clinici. MODALITÀ DI ATTRIBUZIONE DEL VOTO FINALE: media aritmetica dei voti ottenuti nelle singole discipline.- Extended program
Concetti generali di endocrinologia. Definizione e struttura di ormoni e recettori. Fisiopatologia della corteccia surrenalica. Insufficienza corrticosurrenalica primitiva e secondaria. Sindrome adrenogenitale. Ipertensione endocrina. Sindrome di Cushing. Feocromocitoma. Iperaldosteronismo primitivo. Sindromi poliendocrine autoimmuni. Fisiopatologia dell'ovaio. Amenorree primarie (definizione, flow-chart diagnostica, ipogonadismo ipergonadotropo e ipogonadotropo organico e funzionale). Sindrome dell’ovaio policistico (PCOS). Insufficienza ovarica prematura. Fisiopatologia del testicolo. Sindrome di Klinefelter. Metabolismo della vitamina D – deficit di vitamina D. Iperparatiroidismo primitivo e secondario. Incidentalomi ipofisari. Iperprolattinemia. Ormone della crescita. Acromegalia. Deficit di GH. Fisiopatologia dell’ormone antidiuretico/vasopressina. Diabete insipido. Fisiopatologia della tiroide. Tiroiditi. Ipotiroidismo e ipertiroidismo. Noduli tiroidei e tumori tiroidei. Fisiopatologia del deficit insulinico - Patogenesi del diabete mellito di tipo 1. Clinica e terapia del diabete mellito di tipo 1. Patogenesi del diabete mellito di tipo 2 - Fisiopatologia dell’obesità e sindrome metabolica. Clinica e terapia del diabete mellito di tipo 2. Complicanze acute e croniche del diabete mellito. Ipoglicemie.- Obiettivi Agenda 2030 per lo sviluppo sostenibile
Garantire un'istruzione di qualità inclusiva ed equa.
HUMAN GENETICS, MEDICAL AND CLINICAL - MOD. 1
| Code | GP005624 |
|---|---|
| CFU | 2 |
| Teacher | Antonio Orlacchio |
| 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 (4th Edition - 2017)
Genetica & Genomica nelle scienze mediche
Authors: Strachan Tom, Read Andrew P.
Publisher: UTET (3rd Edition - 2021)
Genetica Medica
Authors: Dallapiccola Bruno, Novelli Giuseppe
Publisher: CIC (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 (4th Edition - 2017)
Genetica & Genomica nelle scienze mediche
Authors: Strachan Tom, Read Andrew P.
Publisher: UTET (3rd Edition - 2021)
Genetica Medica
Authors: Dallapiccola Bruno, Novelli Giuseppe
Publisher: CIC (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 |
| Teacher | Antonio Orlacchio |
| 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 (4th Edition - 2017)
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 (4th Edition - 2017)
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
NEPHROLOGY
| Code | GP005628 |
|---|---|
| CFU | 2 |
| Teacher | Gianpaolo Reboldi |
| 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
- 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 with 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. - Obiettivi Agenda 2030 per lo sviluppo sostenibile
- Health and wellness
Cognomi M-Z
- CFU
- 2
- Teacher
- Gianpaolo Reboldi
- Teachers
- Gianpaolo Reboldi
- Hours
- 25 ore - Gianpaolo Reboldi
- 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 with 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. - Obiettivi Agenda 2030 per lo sviluppo sostenibile
- Health and wellness
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
- Language of instruction
- Italian
- Contents
- The professional internship focuses on the diagnostic and therapeutic aspects of diabetes mellitus and diseases affecting the pituitary, thyroid, calcium-phosphorus metabolism and bone, adrenal glands, diffuse endocrine system and neuroendocrine cells, male and female gonads, that are encountered during the performance of outpatient activities or in the hospital ward.
- Reference texts
- Harrison - Principi di Medicina Interna, 20a Edizione
- Educational objectives
- Provide students with the tools to correctly apply the processes of diagnostics and differential diagnostics. Provide information on primary and secondary prevention and principles of therapy.
- Prerequisites
- Prerequisite for the internship is an adequate study of the theory related to endocrine-metabolic diseases as presented in the Endocrinology and Metabolic Diseases teaching.
- Teaching methods
- Analysis of real world clinical cases focusing on clinical signs and symptoms, diagnostic tests, clinical reasoning and differential diagnosis, prescribed therapies.
- Other information
- /
- Learning verification modality
- Ongoing verification of the clinical autonomy developed by the students.
- Extended program
- The covered topics will derive from the analysis of the case histories of patients suffering from endocrine and metabolic diseases encountered in the ward, or in the general endocrinology clinics or in the dedicated ones (pituitary, thyroid, adrenals, osteoporosis, auxology, andrology, female infertility, neuroendocrine tumors) of the Complex Structure of Endocrinology and Metabolic Diseases of Perugia Hospital.
- Obiettivi Agenda 2030 per lo sviluppo sostenibile
- Health and wellness.
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