MEDICAL GENETICS AND HUMAN PHYSIOLOGY

Degree course: 
Corso di First cycle degree in Midwifery
Academic year when starting the degree: 
2019/2020
Year: 
1
Academic year in which the course will be held: 
2019/2020
Credits: 
5
Period: 
Second semester
Standard lectures hours: 
77
Requirements: 

Knowledges of Anatomy and Biochemistry are required

Final Examination: 
Orale

HUMAN PHYSIOLOGY –
The final evaluation consists in a multiple choice exam, performed through a digital support (PC), organized in 40 questions on the entire course programs. The exams is passed if the student attains a score greater than 18/30.
MEDICAL GENETICS
The final evaluation consists of an oral examination
The final grade will be the average of the two single examinations

Assessment: 
Voto Finale

The Course is organized in a section of Human Physiology and in one of Human Genetics.
The aim of the course of Human Physiology is to provide the students with all necessary information to understand, from the quantitative and biophysical standpoint, the mechanisms of functioning of cells, tissues, and organs under normal conditions and their control by the central and autonomous nervous systems.
The objective of the Course of Medical Genetics is to provide the students with the milestones of knowledge of the genic and chromosomics mechanisms leading to the development of human pathologies

-Subdivision of body compartments
-Biophysics of blood ad body fluids
-Cell electrophysiology
-Somatic sensations
-Medullar functions
-Cerebral cortex functions
-Control of motor function and body posture
-Basal ganglia and cerebellum
- Hypotalamus
-Limbic system
-Autonomic Nervous System
-Muscle and locomotion
-Heart and circulatory sistem
-Respiratory system
-Renal system
-Acid-base equilibrium
-Metabolism
-Thermoregulation
-Digestive system
-Endocrine system-

Blood and body fluids. Subdivisions of body compartments. Distribution, ionic and solute content of body compartments. Functions of blood. Physical properties. Osmotic and oncotic pressure. Herithrocytes sediimentation. Hematocrit. Bood cells. Hemometry. Coagualtion ad hemostasis.
Cell electrophysiology. Resting cell membrane potential. Time and space constant. Excitation threshold, ionic currents Ionic channels. Action potential and its propagation along myelinised and non-myelinized nervous fibres. Refractory period. Conduction speed. Synaptic function. Synaptic properties and neurotransmitters. Unidirectional conduction, central delay, excitation and inhibition. Ca++ role in neurotransmitters release. Excitatory (EPSP) and inhibitory (IPSP) postsynaptic potential. Neuromuscular junction. Neuronal codification. Integration of postsynaptic signals:
Nervous system. Sensory system. Generator and receptor membrane potential. Receptor adaptation. Mono and pluri-synaptic reflexes. Interneurons and inhibitory circuits. Somatic sensations. Tactile and position senses. Neuromuscular spindles and Golgi tendon organs;  and  circuits. Sensory pathways for transmitting somatic signals to central nervous system. Sensory cortex Thermal sensation. Thermal receptors. Pain. Types of pain receptors. Pathways for transmitting thermal and pain signals to central nervous system. Referred and visceral pain. Peripheral and central mechanisms of endogenous control of pain. Vestibular sensation and maintenance of equilibrium. Vestibular apparatus. Function of utricule and saccule in static equilibrium. Transmission of sound through the outer and medium ear. Inner ear: transmission of sound waves in the coclea, function of the organ of Corti Central auditory mechanisms. Vision. The retina as a receptor. Photochemistry of vision. Color vision. Neural function of the retina. Visual pathways. Organizations and functions of the visual cortex. The chemical senses – Taste and Smell. Receptors. Transmission to taste and smell signals to the central nervous system. Motor control. The neuromotor unit. Organization of spinal cord for motor function. Flexor and withdrawal reflexes, crossed extended reflex. Reciprocal inhibition and reciprocal innervation. Spinal shock. Cortical and brainstem control of motor function. Primary motor cortex. Premotor area. Role of reticulal and vestibular nuclei. Control of posture. Cerebellum. Afferent and efferent pathways to the cerebellum. Basal ganglia. Motor functions. Specific neurotransmitters. Cerebral cortex. EEG. Functions of specific cortical areas. Association areas. Language. Different function of the two emispheres. Short- term, intermediate–term and long-term memory. Limbic system and Hypotalamus. Activating- de-activating systems of the brain. Vegetative and endocrine control function of the hypothalamus. Functions of the limbic system. Autonomic nervous system. General organization and characteristics of sympathetic and parasympathetic function. Autonomic reflexes. Control of the sympathetic and parasympathetic systems in distinct organs.
Muscle and locomotion. Function of skeletal muscle. Elastic and contractile components. Isometric, isotonic and iso-velocity contraction. Single twitch and tetanization. Force-length diagram. Force-velocity diagram. Dynamic force-velocity diagram.
Heart. Cardiac pace-maker. Specialized excitatory ad conductive system of the heart. Resting membrane potential and action potential in specialized system and in normal miocytes. Electrocardiogram. Control of cardiac function. Receptors, afferent pathways, cardiovascular regulatory centres, efferent pathways. Cardiac mechanics. Valves function. Ventricular pressure and volume during cardiac cycle. Cardiac stroke and cardiac output. Work output, cardiac efficiency.
Circulatory system. Distribution of blood volume. Velocity, cross section and pressure in the circulatory districts. Static Mechanical features of blood vessels.

HUMAN PHYSIOLOGY
- AA.VV. – FISIOLOGIA DELL'UOMO - a cura di P.E Di Prampero e A. Veicsteinas - Casa Editrice Edi-Ermes, Milano
- AA.VV. – FISIOLOGIA – a cura di P.Scotto, P. Mondola - Poletto Editore, Milano

HUMAN GENETICS
- E. S. Tobias, M Connor, M. Ferguson-Smith - Fondamenti di Genetica Medica – Pearson
- L. Tiepolo, U. Laudani: Le basi biologiche dell’ereditarietà - 3° ed. Editore La Goliardica Pavese

For the course, the students will have front lessons with slides. During classroom discussions, students are encouraged to interact with teachers with questions and curiosities. During lectures, the lecturers will also present examples and daily facts that can make sense of the application / importance of the subjects of the lessons.
Students are required to attend the lessons as set out in the teaching regulations of the course and sign the attendance sheet to be able to take the exam.

Professors are available for the students through appointment set through the their institutional e-mail address.

Modules