MEDICAL GENETICS

Degree course: 
Corso di First cycle degree in Midwifery
Academic year when starting the degree: 
2018/2019
Year: 
1
Academic year in which the course will be held: 
2018/2019
Course type: 
Basic compulsory subjects
Credits: 
2
Period: 
Second semester
Standard lectures hours: 
32
Detail of lecture’s hours: 
Lesson (32 hours)
Requirements: 

Knowledges of Anatomy and Biochemistry are required

Assessment: 
Voto Finale

CORSO DI FISIOLOGIA UMANA –
L’obiettivo del Corso di Fisiologia Umana sarà quello di fornire ai laureandi tutte le informazioni necessarie per comprendere, dal punto di vista biofisico-quantitativo, le modalità di funzionamento dei vari organi e sistemi dell’organismo in condizioni normali nonché del loro controllo da parte del sistema nervoso centrale e autonomo e del sistema endocrino.

CORSO DI GENETICA MEDICA –
Obiettivo formativo del corso di Genetica Medica sarà quello di fornire ai laureandi le basi della conoscenza dei meccanismi genici e cromosomici alla base delle patologie umane.

Detailed program
Nervous system:
Resting membrane potential. Constant in time and space of the nerve fibers. Action potential and its propagation. Synapses. Neuromuscular Junction. Neuronal coding. Synaptic integration. sensory systems. Monosynaptic reflexes and plurisinaptic. tactile and kinesthetic sensibility. tactile receptors. Neuromuscular spindles :. Bodies muscle-Golgi tendon. thermal and pain sensitivity. vestibular apparatus. acoustic sensitivity, visual, olfactory and gustatory. motor control. The neuromotor units. Spinal reflexes. Maintaining posture. Motor coordination. afferent pathways, efferent. voluntary movement. cortical areas. pain sensitivity.
Distribution of blood volume. Velocity, cross section and pressure in the circulatory districts. Mechanical features of blood vessels. Laplace law applied to vessels. Bernoully law. Poiseuille law. Laminar and turbulent flow. Arterial and venous pulse pressure. Pressure distribution in the systemic and pulmonary circulation. Fluid and solute exchanges between microvasculature and interstitial space. Lymph formation and propulsion. Oedema. Nervous and endocrine control of arterial pressure. Pulmonary circulation. Coronary circulation. Cerebral circulation.
Cardiac pace-maker. Specialized excitatory ad conductive system of the heart. Resting membrane potential and action potential in miocytes. ECG. Control of cardiac function. Cardiac mechanics. Ventricular pressure and volume during cardiac cycle. Cardiac stroke and cardiac output. Work output, cardiac efficiency. Cardiac metabolism.
Air composition and respiratory gasses. Spirometry, static lung volumes. Pulmonary and alveolar volume and flow. Lung, chest and respiratory system pressure-volume curves. Intrapleural pressure and pneumothorax. Mechanical work of respiration. Respiratory gas exchanges. O2 consumption and CO2. production. Respiratory ratio. Alveolar gas equation. Alveolo-capillary respiratory gas diffusion. O2 and CO2 transport in blood transport in blood. Ventilation-perfusion ratio. Artero-venous shunt, hypoxia. Nervous and chemical control of respiratory function.
Glomerular filtration. Renal blood flow and filtration fraction. Glomerular auto regulation. Renal clearance. Absorption of water, Na+, Cl-, bicarbonates, aminoacids, urea. Secretion of H+ and organic substances. Henle loop. Counter current mechanism. Osmolarity in tubular and extracellular fluid. Vasa recta. Distal convolute and collecting tubules. Aldosterone and vasopressin. Regulation of volume and osmoticity in extracellular body fluids. Urine volume, pH and composition.
Physiological buffer solutions. H+ production and its buffering. Respiratory and metabolic acidosis and alkalosis. Control of pH by renal and respiratory correction.
Metabolism. Energetic fuel: anaerobic and aerobic pathways. Energy available in food. Oxygen debt. Basal, rest ad exercise metabolism. O2 consumption.
Function of skeletal muscle. Isometric, isotonic and iso-velocity contraction. Single twitch and tetanisation. Force-length diagram. Force-velocity diagram. Dynamic force-velocity diagram.
General features of the digestive tube. Peristaltic movements. Composition and functions of salivary, gastric, hepatic, pancreatic and intestinal secretion. Control of secretions. Digestion and absorption of carbohydrates, proteins, lipids, ions (Fe++, Ca++, etc.), vitamins, drugs and water.
Mechanisms of hormone release and action in the pituitary gland, adrenal glands, thyroid, paratyroids, pancreas, gonads and of gastrointestinal hormones.

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

Convenzionale