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B021417 - PATHOLOGIES OF HEMOSTASIS AND CARDIOVASCULAR PATHOLOGIES: MOLECULAR DIAGNOSTIC APPROACH
Main information
Teaching Language
Course Content
Suggested readings
Learning Objectives
Prerequisites
Teaching Methods
Type of Assessment
Course program
Academic Year 2021-22
Course year
Third year - Annualità singola
Belonging Department
Experimantal and Clinical Medicine
Course Type
Single education field course
Scientific Area
-
Credits
3
Teaching Hours
24
Teaching Term
27/09/2021 ⇒ 18/06/2022
Attendance required
No
Type of Evaluation
Giudizio Finale
Course Content
show
Course program
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Lectureship
Teaching Language
Italian
Course Content
Molecular basis of monogenic cardiovascular diseases: aortic diseases, cardiomyopathies and arrhythmias. Monogenic diseases so far defined display a more complex pathomolecu-lar mechanism. The meaning and mechanisms of modifier genes, oligogenic diseases, epigenetics will be discussed. Pathophysiology of hemostasis and laboratory diagnostic inherent hemostasis and clinical chemistry in emergencies, including decentralized analysis.
Suggested readings (Search our library's catalogue)
-Neri-Genuardi
Human and Medical Genetics
Masson, 2014, third edition
-Reviews from scientific journals
Human and Medical Genetics
Masson, 2014, third edition
-Reviews from scientific journals
Learning Objectives
Objectives of this teaching are, starting from the clinical data, to learn the diagnostic molecular, genetic and biochemical, approach for clinical and differential diagnosis of important cardiovascular and haemostatic diseases also learning to interpret and evaluate the results contained in the reports.
Based on the information provided in the lectures, the examination will take place with the presentation through short seminar of two scientific articles, one on cardiovascular disease an other on hemostasis disorders where students will learn to read and understand an article on the above topics and to present it and discuss it with colleagues and faculty.
Based on the information provided in the lectures, the examination will take place with the presentation through short seminar of two scientific articles, one on cardiovascular disease an other on hemostasis disorders where students will learn to read and understand an article on the above topics and to present it and discuss it with colleagues and faculty.
Prerequisites
Propedeuticity approved by degree course
Teaching Methods
frontal lessons and professional formative activities
Type of Assessment
The exam will consist of two oral presentations with slides in pptx, each of 20', of 2 scientific articles which the students will receive in the first lessons of the course, one on cardiovascular diseases, the other on hemostatic diseases. All course students must be present to participate in the discussion of the articles. Finally two questions will be asked to the student regarding the other topics of the program
Course program
Three big chapters of cardiovascular genetic diseases will be discussed:
Aortic pathologies. Clinical aspects of syndromic and non-syndromic thoracic aorta aneurysms and dissections will be presented. These diseases range from heritable connective tissue disorders to congenital diseases with important anatomical abnormalities of the heart and of the hearth valves, to chromosomal disorders such as Turner syndrome (syndromic), to isolated thoracic aneurysms (non-syndromic).
After a short introduction on hereditary transmission mechanisms and types of mutations in Humans, All the genes known to be associated with aortic disease will be presented togheter with the "state of the art" at the genetic level and genotype-phenotype correlation
The channelopathies. This group also presents an autosomal dominant transmission. We will talk about long- and short-QT and, Brugadas’ syndrome. They are disorders characterized by arrhythmiaa, electrophysiological abnormalities that may lead to syncope and cardiac arrest. Again, they are now considered oligogenic. disorders.
Cardiomyopathies. Clinics and genetics of hypertrophic and dilated cardiomyopathies. Unlike the first group, these diseases are frequent. The genetic underpinnings of such diseases is very complex; pathologies were initially defined autosomal dominant but now appear evidently oligogenic and it still remains difficult among the many identified genes make it quite clear what is really severe and which in itself does not cause clinical features.
All three groups of diseases can cause sudden deaths not only of young people but also to infants or children and athletes during athletic competitions. It will be also made a mention of this last problem: sudden death.
Three chapters of the hemostatic diseases will be treated
Disorders of Primary Hemostasis. Pathophysiology and clinical aspects of vascular endothelial dysfunction, thrombocytopenia and platelet will be present ed. These diseases range from diseases of the vascular endothelium (vascular phase of haemostasis) to different hereditary and acquired platelet dysfunctions. Thrombocytopenias and platelet disorders will be described and it will be dealt with the causes and the hemostatic complications, particularly with regard to defects in adhesion, release reaction and aggregation.
Pathologies of Secondary Hemostasis. Qualitative and quantitative defects of coagulation factors, its inhibitors and the defective activation of fibrinolysis will be treated. In particular, it will be examined the pathogenetic aspects, pathophysiological and clinical of Von Willebrand's disease and the various types of hemophilia. In addition, defects of different factors of secondary hemostasis
will be equally discussed
Thrombosis. It will be deepened the concept of thrombosis and it will study the causes. Arterial thrombosis and venous thrombosis will be studied and it will be deepened the genetics of V (Leiden factor) and factor II.
Some background on alterations of hemostasis in many clinical conditions, such as those of the diabetic patient, than the liver disease and pregnancy will be showed.
For each topic covered will be referred the specialist laboratory diagnostics (analysis of II and III level) and that tests carried through decentralized methodologies ( Point - of-Care Testing - POCT )
Aortic pathologies. Clinical aspects of syndromic and non-syndromic thoracic aorta aneurysms and dissections will be presented. These diseases range from heritable connective tissue disorders to congenital diseases with important anatomical abnormalities of the heart and of the hearth valves, to chromosomal disorders such as Turner syndrome (syndromic), to isolated thoracic aneurysms (non-syndromic).
After a short introduction on hereditary transmission mechanisms and types of mutations in Humans, All the genes known to be associated with aortic disease will be presented togheter with the "state of the art" at the genetic level and genotype-phenotype correlation
The channelopathies. This group also presents an autosomal dominant transmission. We will talk about long- and short-QT and, Brugadas’ syndrome. They are disorders characterized by arrhythmiaa, electrophysiological abnormalities that may lead to syncope and cardiac arrest. Again, they are now considered oligogenic. disorders.
Cardiomyopathies. Clinics and genetics of hypertrophic and dilated cardiomyopathies. Unlike the first group, these diseases are frequent. The genetic underpinnings of such diseases is very complex; pathologies were initially defined autosomal dominant but now appear evidently oligogenic and it still remains difficult among the many identified genes make it quite clear what is really severe and which in itself does not cause clinical features.
All three groups of diseases can cause sudden deaths not only of young people but also to infants or children and athletes during athletic competitions. It will be also made a mention of this last problem: sudden death.
Three chapters of the hemostatic diseases will be treated
Disorders of Primary Hemostasis. Pathophysiology and clinical aspects of vascular endothelial dysfunction, thrombocytopenia and platelet will be present ed. These diseases range from diseases of the vascular endothelium (vascular phase of haemostasis) to different hereditary and acquired platelet dysfunctions. Thrombocytopenias and platelet disorders will be described and it will be dealt with the causes and the hemostatic complications, particularly with regard to defects in adhesion, release reaction and aggregation.
Pathologies of Secondary Hemostasis. Qualitative and quantitative defects of coagulation factors, its inhibitors and the defective activation of fibrinolysis will be treated. In particular, it will be examined the pathogenetic aspects, pathophysiological and clinical of Von Willebrand's disease and the various types of hemophilia. In addition, defects of different factors of secondary hemostasis
will be equally discussed
Thrombosis. It will be deepened the concept of thrombosis and it will study the causes. Arterial thrombosis and venous thrombosis will be studied and it will be deepened the genetics of V (Leiden factor) and factor II.
Some background on alterations of hemostasis in many clinical conditions, such as those of the diabetic patient, than the liver disease and pregnancy will be showed.
For each topic covered will be referred the specialist laboratory diagnostics (analysis of II and III level) and that tests carried through decentralized methodologies ( Point - of-Care Testing - POCT )