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PATHOLOGIES CONNECTED TO MOTOR ACTIVITY

Academic year and teacher
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Versione italiana
Academic year
2015/2016
Teacher
MARCO CONTOLI
Credits
12
Didactic period
Primo Semestre

Training objectives

MEDICAL GENETICS
Understanding the basic concepts of formal and molecular genetics. Study of diseases with impaired movement and studying the implications that genetic factors can have on athletic performance.
DISEASES OF THE LOCOMOTOR APPARATUS
Provide the theoretical basis for general relating to the role played from the motor activity in the treatment and prevention of some common conditions of the musculoskeletal system failure that characterize adulthood, old age and developmental age and of some traumatic diseases frequently finding in sport
RESPIRATORY DISEASE
The course will provide the basis for the understanding of the pathophysiological changes that occur in the cardiorespiratory system during physical exercise. The effects of chronic obstructive pulmonary diseases (asthma and COPD) and chronic heart diseases (ischemic heart disease, heart failure, hypertensive heart disease) on exercise capacity will be presented. Also, the advantages of an adapted and controlled physical exercise program in such patients will be discussed. Finally the students will acquire the basic knowledge for exercise capacity evaluation through standardized methods and to set an adapted and controlled exercise program in patients with chronic cardio-respiratory diseases.

Prerequisites

Knowledge of concepts of cellular and molecular biology, mainly related to structural and functional characteristics of DNA.
Knowledge of chemistry and biochemistry. Knowledge of anatomy and human physiology of the muscle- skeletal and cardiorespiratory apparatus. To be admitted to the exam of Diseases sensitive to motor activity is necessary to have passed the exam of Physiology.

Course programme

MEDICAL GENETICS
Brief review of some concepts of molecular genetics: definition of locus, gene, allele, homozygous, heterozygous, dominant, recessive, genotype, phenotype, gene and chromosomal mutations and some examples of associated disorders. Mendelian transmission of hereditary traits and family trees.
Genetic diseases associated with movement disorders: ataxias, chorea, athetosis, dystonias, tremors, tics, duchenne and Becker dystrophies. Genetic polymorphisms and sports performance: polymorphisms of ACE and ACTN3 genes. Inherited channelopathies that have an impact on sport performance: ion channel mutations that cause heart rhythm disturbances (bradyarrhythmias and tachyarrhythmias). Examples of channelopathies: Long QT syndrome and Brugada syndrome. Substances and doping methods banned in sport: blood doping, chemical doping and gene doping. Gene therapy to gene doping: use of viral and non-viral vectors and in vivo and ex vivo methods for inserting genetic material in humans. Candidate genes for gene doping in sports.
DISEASES OF THE LOCOMOTOR APPARATUS
OSTEOPOROSIS: definition, clinical aspects, epidemiological, anatomical and pathological aspects, principles of prevention and treatment, prevention and therapy using modified motor activities.
ARTHROSIS: general, clinical and imaging aspects, aspects of prevention of complications, principles of conservative and surgical therapy, aspects of prevention of the aggravation through
motor activities, types of motor activity aimed in the pre-and post-operatively.
LOW BACK PAIN OF POSTURAL and KINETICS ORIGIN: definition, clinical aspects, epidemiological, anatomical and pathological aspects, principles of prevention and therapy, prevention and treatment through adapted physical activity.
SCOLIOSIS: definition, clinical epidemiological aspects, identification of risk factors, aspects of conservative and surgical therapy, modified motor activities such as prevention and treatment of the aggravation of the deformity.
- Traumatic pathologies of the knee joint.
- Degenerative and traumatic disorders of the shoulder joint.
RESPIRATORY AND CARDIOVASCULAR DISEASE
- Respiratory function: pulmonary ventilation and gas exchange
- Lung function evaluation: spirometry
- Respiratory failure: definition and causes
- Dyspnea: definition, measurement and causes
- Bronchial asthma. Asthma and Exercise
- Chronic obstructive pulmonary disease (COPD) and physical activity
- Assessment of exercise capacity and rehabilitative programs in patients with chronic respiratory diseases
- Functional anatomy of the heart
- How physical activity affects the cardiovascular risk
- Physical Activity and ischemic heart disease. Physical activity and high blood pressure. Physical Activity and ischemic heart disease
- Management of cardiovascular emergencies in the gym

Didactic methods

frontal lessons

Learning assessment procedures

MEDICAL GENETICS
Written exam with 2 open questions. For each answer is possible to write two-sided A4. Each answer can be worth up to 15 points. Available time: 1 hour.
DISEASES OF THE LOCOMOTOR APPARATUS
The examination is divided into two parts, a written to an oral, that take place on two different days. The final vote, out of thirty, is the result of the arithmetic average of the two tests, we rounded up if =0,5.
The written exam, which is designed to verify the learning of the arguments in the hours of teaching support, consists of four open-ended questions to each of which a maximum score of 7.5 / 30 is given. The estimated time for the test is two hours.
The oral test, which aims to verify the learning of arguments during the frontal teaching hours consist of one / two questions on various topics of the program. It lasts an average of 15-20 minutes and is designed to assess the knowledge of the subject, the clarity and the ability to place their knowledge in a practical context.
RESPIRATORY AND CARDIOVASCULAR DISEASE
Written exam. Students will be asked to address two questions concerning respiratory and cardiology topics discussed and presented during the course.
The evaluation of the exam will consider the completeness of the responses and how the student is able to demonstrate the acquisition of specific professional skills related to the topics.
The final grade is an arithmetic average of the marks obtained in each of the tests.

Reference texts

MEDICAL GENETICS
Bruno Dallapiccola, Giuseppe Novelli, Genetica Medica Essenziale, 2006
B. A. Pearce, Genetica, Ed. Zanichelli 2005
Material provided by the teacher: slides object of the lessons.
DISEASES OF THE LOCOMOTOR APPARATUS and RESPIRATORY AND CARDIOVASCULAR DISEASE
Materials provided by the teacher