MedInTO Medicine and Surgery

Internal Medicine and Medical Genetics

Internal Medicine and Medical Genetics

Academic year 2023/2024

Sommario del corso

• Course objectives
• Results of learning outcomes
• Program
• Course delivery
• Learning assessment methods
• Suggested readings and bibliography
• Notes
• Teaching Modules
• Teaching tools
• Course card

Course objectives

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

• to apply the proper methodological approach to the pathologies - from anamnesis to differential diagnosis, including the critical evaluation of findings and laboratory tests, the prognosis, the choice of therapeutic strategies, and appropriate communication skills to each person. 
• to apply the proper diagnostic procedures for the most frequent clinical conditions in the light of their etiological heterogeneity and epidemiology (rare and familial cases vs common and sporadic).
• to manage the therapeutic continuity from district to hospital and back, integrating the role of various specialties along the disease stages, from early and still asymptomatic, to chronic or progressive, and the early recognition of psychosocial complexity.
• to define a rational therapeutic strategy on the basis of scientific evidence, cost /benefits analysis, and possibly of personalized therapeutics.
• to recognize indications and applicative modalities of genetic tests and the role of pre- and post-test genetic counselling.
• to understand the role of gene mutations and polymorphisms in the pathogenesis of monofactorial as well as complex diseases.
• to describe the characteristic phenotype, to have knowledge of the mode of inheritance, and to have knowledge of current options for genetic testing (risk assessment), referral, and treatment.

Results of learning outcomes

Knowledge of the most common diagnostic and therapeutic pathways in internal medicine, rheumatology, and clinical psychology; analysis of physician-patient interactions; basic concepts of diagnostic, prophylactic, and therapeutic options; integration of both the fundamental concepts of medical genetics and the recent innovations in to the clinical practice.

Program

INTERNAL MEDICINE AND RHEUMATOLOGY

Cases of Internal Medicine and Rheumatology will be presented and discussed with the active involvement of students. The presentation will include interactive in-deep discussion of the diagnostic procedure and of the most appropriate treatment choices.

The selected cases will include patients with cardiovascular, pulmonary, gastroenteric, renal, hematological, and rheumatological diseases that are most frequent in the outpatient and hospital practice, with special attention focused on differential diagnosis.

The discussion of therapeutic approaches will also consider the principles of clinical trials, the process and regulation for introducing new drugs in the practice of Internal Medicine, and the perspective of new personalized treatment strategies based on Pharmacogenetics.

INTERNAL MEDICINE

The following topic are discussed:

• pulmonary embolism and thrombosis
• anticoagulant therapies
• anti platelet therapies
• bleeding disorders
• disseminated intravascular coagulation
• thrombotic thrombocytopenic purpura
• antiphospholipid syndrome
• polycythaemia/polyglobulia and thrombocythemia/thrombocytosis
• heart and kidney failure
• cirrhosis/liver failure

RHEUMATOLOGY

• Introduction to Rheumatology; definition of Rheumatic and musculoskeletal diseases (RMDs); epidemiology; general principles of anatomy and physiology of the musculoskeletal system; pathogenetic bases of RMDs; semeiotic of RMDs; early diagnosis of RMDs
• Osteoarthritis
• Crystal-related arthropathies
• Generalised and regional musculoskeletal pain syndromes
• Osteoporosis
• Other bone diseases: osteomalacia, Paget's disease
• Imaging and laboratory of RMDs, including synovial fluid analysis
• Diagnosis and classification criteria of RMDs
• Treatment of RMDs

CLINICAL PSYCHOLOGY 

• The role of psychosocial factors in the genesis, course, and onset of medical pathology.
• Stress pathophysiology.
• Emotions and relationships: general elements: what they are, how they are experienced, the importance of knowing how to live them
• The experience of the body space and internal time.
• The traumatic dimension and trauma-focused psychotherapies
• Communication: general principles, the patient who somatizes, poor prognosis
• Therapeutic alliance and compliance.
• Early recognition of psychosocial complexity
• The relationship with the sick with severe pathology
• Communication in the advanced stage of the disease
• Dying and mourning.
• Notes on spirituality
• The operators’ emotions  and burn out

MEDICAL GENETICS 

• From the lab to the clinics: basic concepts and real examples of pedigrees, transmission models, type of mutations, penetrance, variable expressivity, pleiotropy, linkage, one gene-one disease vs many genes-many diseases, somatic and germline mosaicism, polymorphisms, and the concepts of population genetics that are relevant in medicine. Genetic and genomic investigations.
• From the clinics to the lab: clinical reasoning in medical genetics, types of biological samples, diagnostic and pre-symptomatic gene testing, genetic counselling, available databases, guidelines, general issues of privacy, confidentiality and consent.
• Cancer genetics: inherited specific tumour syndromes (familial breast and ovarian cancer, colorectal cancer syndrome, multiple endocrine neoplasia) and other genetic syndromes predisposing to malignancy, collaboration between specialities, screening recommendations and personalized follow-up.
• The genetic counselling for specific organ systems (neurology, cardiovascular and respiratory medicine, nephrology, ophthalmology, etc).
• Prenatal genetics and chromosomal pathology
• Future perspectives: genetic screening, pharmacogenetics, testing susceptibility to complex diseases.

Course delivery

Hybrid (Online and physical lectures)                                                                                                                                                                                                                                 

Learning assessment methods

Learning assessment modalities

The exam tests will cover all the disciplines included in the course and the final score proportionally will take into account the results of each module.

Examination arrangements

Written and oral.

• Written:
  • MED/16 – Rheumatology
  • MED/09 – Internal Medicine
  • MED/03 - Medical Genetics
  • MPSI/08 – Clinical Psychology
• Oral:
  • MPSI/08 – Clinical Psychology
  • MED/09 – Internal Medicine

Internal Medicine and Rheumatology

There will be a written test with 31 multiple choice questions (1 correct answer out of 4 or 5 possibilities) divided by disciplne:

• Internal Medicine: 16 
• Rheumatology: 15

One point for correct answer, no penalty for wrong answer.
Score: 0-17 fail, 18-31 passed

Medical Genetics

The genetics test is carried out on the Moodle platform and includes 2 open questions on clinical cases (10 points each) and 4 short questions (3 points each).

The first open question has a general framework for a patient with a suspected genetic pathology. The second open question is on a specific genetic pathology which will be communicated to the students registered for the test, at the close of registration for the session, together with a selection of in-depth material.

The four short questions are related to the molecular aspects of the pathology of question number 2, and the course program and materials.

Previous exams will be examined during the lessons.

Clinical Psychology

There will be a written test with 30 multiple choice questions (1 correct answer out of 4 possibilities). The written exam score does not contribute to the final grade but has the sole purpose of acting as a barrier. Once the threshold of 18 correct answers is exceeded, it will be possible to access the oral exam.

• EULAR Textbook of Rheumatology                                                                                                                                                                                                                                                                                                                                                          

Notes

Students with DSA or disabilities are kindly requested to take note of the reception services and support services offered by the University of Turin, and in particular of the procedures required for exam support.

Teaching Modules

• Internal Medicine and Medical Genetics - module of Clinical Psychology (SCB0223C)
• Internal Medicine and Medical Genetics - module of Internal Medicine (SCB0223A)
• Internal Medicine and Medical Genetics - module of Medical Genetics (SCB0223B)

• Teaching material
• Exams and finals
• Class schedule
• Go to Moodle
• Register for the course
• Enrolled students
• Invia email agli studenti registrati
• Export table