Semiotics and Pathology of Systems 1

Cystic fibrosis
Classic and non-classical forms
Genetics: genotype / phenotype correlations, allelic heterogeneity, modifier genes, mutational analysis
Therapeutic perspectives

Genetic factors for male infertility
Chromosomal abnormalities (Klinefelter syndrome, Y chromosome microdeletions)
Monogenic diseases (CFTR, AR)
Mitochondrial DNA alterations

Hereditary cardiomyopathies
Hypertrophic, arrhythmogenic, dilatative, or restrictive cardiomyopathies: genetic bases and pathogenetic mechanisms
Cardiac canalopathies (eg long QT and Brugada syndromes)
Conduction defects
Secondary cardiomyopathies: mitochondrial diseases

Cardiac malformations with a genetic basis (syndromic and non)
Chromosomal syndromes (eg Down and DiGeorge syndromes)
Monogenic syndromes: RASopathies

Renal diseases with a genetic basis
Hereditary renal cystic diseases: Polycystic kidney
Glomerular renal diseases
Congenital nephrotic syndromes

General physical examination of the adult, measurement of vital parameters, evaluation of peripheral arterial pulses and venous insufficiency, physical examination for anatomical systems and description of the findings (head, neck, thorax, abdomen, limbs, breast, palpation and description of the characteristics of the swellings encountered).
The professional activities concern the same objectives and teach the main manual maneuvers (palpation, percussion)

Pulmonology
Description
Clinical approach to the patient with respiratory diseases: how to detect signs and symptom of the main respiratory diseases; when and how to measure respiratory function (respiratory function tests). Clinical approach to diagnostic exams and main principles of caring for respiratory disorders.

At the end of the course the student should be able to:

· Know pathophysiology and risk factors of the main surgical disorders of the respiratory system and mediastinum
· Know how to provide a focused patient medical history
· Conduct the clinical examination with special attention to primary and secondary signs related to the main disorders
· Know the differential diagnosis for the area and identify symptoms and signs of a suspected disease
· Know the first screening tests, the in depth out- and in-hospital examinations. Know procedures and priorities in tests.
· Know the techniques of execution of instrumental tests for different diseases
· Describe required tests also when not directly linked to the underlying main disease. Know the risk factors related to comorbidities

Clinical approach to respiratory failure: definition, diagnostic overview and evaluation of severity; distinction between acute and chronic respiratory failure; basis of treatment with special attention to oxygen therapy and mechanical ventilatioin (non-invasive and invasive), principles of caring for patient with tracheostomy.

Students are required to master basic epidemiology, main pathophysiology, clinical presentation and the diagnostic approach for the following diseases:

Obstructive diseases: bronchial asthma; chronic obstructive pulmonary disease (COPD); bronchiectasis; basic of smoking cessation
Restrictive diseases: interstitial lung diseases; restrictive neuromuscular diseases
Adult sleep disorder breathing: obstructive sleep apnea syndrome (OSAS)
Adult sleep disorder breathing other than OSAS
Pleural and mediastinal diseases: pleural effusion; pneumothorax; mediastinal tumors mediastinal syndrome
Infectious pulmonary diseases: pneumonia; tuberculosis
Vascular pulmonary diseases: pulmonary thromboembolism; pulmonary hypertension
Lung tumors
Lung cyctic diseases


Approach to the clinical techniques and diagnostic tests in the field of respiratory:
Cardiopulmonary exercise test
Radiological approach to chest diseases
Chest ultrasound
Interventional pulmonology: thoracentesis, chest drains and medical thoracoscopy
Interventional pulmonology: flexible and rigid bronchoscopy

Approach to the patient with cardiovascular disease: how to recognize the presentation syndromes of the patient with CV disease (arterial hypertension, ischemic heart disease, heart failure, main arrhythmias), how to measure heart function, which tests are useful in the diagnosis of cardiovascular diseases.

Approach to the patient with CV disease first: how to distinguish heart failure, angina pectoris, hypertensive crisis and major arrhythmia.

Principles of atherosclerosis and development of the ATS plaque

Ischemic cardiopathy

Cardiovascular prevention principles

Imaging, CT, RM,

CCH

Nephrology
Description: The purpose of this module is to provide essential knowledge of the kidney role in maintaining the body homeostasis, both in patients with renal diseases and in patients with other conditions, such as arterial hypertension and diabetes mellitus, in which kidneys play a pivotal role in the genesis and the response of the organism to the disease process. The module offers the unique opportunity to systematically explore specific renal disorders, like the glomerulopathies, and an introduction to very relevant clinical syndromes, such as acute and chronic kidney disease.
Course Relevance: The knowledge of signs and symptoms (semeiotics) in nephrology and the ability to identify the clinical presentation of renal diseases represent an essential part of the medical heritage and practice. It is of utmost importance in the everyday clinical and surgical practice, if we consider the high incidence of both acute (mostly in surgical setting) and chronic kidney injury (mostly in internal medicine). Also, the ability to detect the first signs and symptoms of a specific renal disease is crucial for an early nephrology referral. Despite the intended field of specialization in medicine, we believe that this module is very important both for the future physician and the future surgeon.
General requirements: Successful participants will be able to:
· Recognize the most relevant signs and symptoms of disease.
· Learn how to conduct a medical and anamnestic interview.
· Plan the best approach to the patient.
· Apply the correct steps of a medical examination.
· Understand the pathophysiological features of acute and chronic renal diseases.
· Develop a deep knowledge of the principal renal syndromes.
· Differentiate between nephrotic and nephritic syndrome.
· Understand the main etiologies and the clinical features of acute kidney injury.
· Understand the main etiologies and the clinical features of chronic kidney injury.
· Develop a broad understanding of the role of kidneys in the pathogenesis of electrolyte disturbances
· Develop a broad knowledge of genetic abnormalities determining renal diseases
· Understand how to collect critical information about renal diseases from the patient's clinical history.
· Apply the correct steps of medical examination in a patient with renal disease.
· Demonstrate the ability in diagnosing and characterizing a case of acute kidney injury.
· Understand how to stage kidney injury upon the creatinine serum levels and the corresponding glomerular filtration rate.
· Understand how proteinuria affects severity of kidney disease and its progression.
· Demonstrate the ability in detecting the condition of body fluid overload.

General physical examination of the adult, measurement of vital parameters, evaluation of peripheral arterial pulses and venous insufficiency, physical examination for anatomical systems and description of the findings (head, neck, thorax, abdomen, limbs, breast, palpation and description of the characteristics of the swellings encountered).
The professional activities concern the same objectives and teach the main manual maneuvers (palpation, percussion)

- Hematuria: clinical and diagnostic management
- Prostate cancer: from diagnosis to therapy
- Urinary stones: from pathogenesis to clinical and therapeutic management
- BPH : from pathogenesis to clinical and therapeutic management
- Bladder cancer: clinical ,diagnostic and therapeutic management
- Kidney cancers : clinical ,diagnostic and therapeutic management
-Upper urinary tract urothelial carcinoma: clinical ,diagnostic and therapeutic management
- Testis cancer and penile cancer : clinical ,diagnostic and therapeutic management