MEDICAL GENETICS AND HUMAN PHYSIOLOGY
- Overview
- Assessment methods
- Learning objectives
- Contents
- Full programme
- Delivery method
- Teaching methods
- Contacts/Info
To be admitted to the final exam of Human Physiology it is necessary to possess a positive evaluation of the exam of Human Anatomy and possess advanced knowledges of Biochemistry
For the HUMAN PHYSIOLOGY module, the final evaluation is carried out through a test, performed by computer support (PC), which consists of 40 multiple choice questions to be solved in 45 minutes. The questions, inherent to the entire program, are aimed at establishing knowledge and understanding (60%), the ability to apply knowledge and understanding (30%), and the learning ability (10%) of the topics covered in the course .
For the MEDICAL GENETICS module, the final assessment is carried out by means of an oral exam on all the topics covered in class. The ability to express the knowledge acquired in a competent and organized manner will be positively assessed; the capacity for critical reasoning on the study carried out and depth of analysis; quality of the exhibition and competence in the use of specialist vocabulary.
The final mark will result from the average of the marks of the two tests.
The objective of the Course of Medical Genetics and Human Physiology is to provide graduates with all the information necessary to understand, from a biophysical-quantitative point of view, and based on genetic behaviour, the functioning of the various organs and systems of the body under normal conditions and their control by the nervous system central and autonomous and endocrine system.
At the end of the course, the student will be able to:
1. describe the fundamental functional parameters that characterize the physiological conditions of cells, tissues and organs;
2. explain how cells and tissues work
3. use biophysical-quantitative tools (equations, graphs) to describe and analyze the physiological processes involved;
4. describe the correlations between structure, biophysical behavior and function of organs and systems.
5. describe the mechanisms underlying the coordinated and interactive functioning of several organs and systems
6. analyze the phenomena that lead to possible modifications of the quantitative and functional parameters as the organic conditions vary
7. discuss the topics dealt with clearly and using the appropriate technical language.
8. explain how the changes in functional balance found in physiological conditions lead to the onset of pathophysiological conditions of clinical interest for cells, tissues and organs.
The Course will deal with the physiology and pathology of the following systems:
Central and autonomous nervous system.
Skeletal muscle and locomotion.
Cardiac muscle.
Vascular systemic circulation and lymphatic system.
Pulmonary and coronary circulation. Control of cardiovascular function.
Respiratory system, gas exchanges and transport.
Nervous and chemical control of respiratory function.
Renal system and regulation of volume and osmoticity in extracellular body fluids.
Acid-base equilibrium.
Metabolism.
Thermoregulation.
Digestive system.
Endocrine system.
The basic knowledge of formal genetics will be investigated starting from the cell cycle, mitosis, meiosis and gametogenesis up to analyze the gene and chromosomal mutations underlying the genetic pathologies connected to them.
HUMAN PHYSIOLOGY
Membrane potential
and action potential. Synapses. Neuromuscular junction. Neuronal coding. Synaptic integration. Sensory systems. Tactile and kinesthetic sensitivity. Tactile receptors. Proprioceptive, thermal and pain sensitivity. Vestibular system. Acoustic, visual, olfactory and gustatory sensitivity. The neuromotor unit. Spinal reflexes. Maintenance of posture. Motor coordination. Voluntary movement. Cortical areas.
Hemodynamics. Speed, section and average pressure in the various sections. Mechanical characteristics of the vessels. Laplace's law. Bernoulli's law. Laminar and turbulent motion. Sphygmic wave. Pressure in the districts of the large and small circle. Capillary exchange of liquid and solutes. Lymphatic system. Nervous and humoral regulation of blood pressure. Pulmonary circle. Coronary circle.
Rest and action potential of myocardial cells. ECG. Receptors, afferent pathways, cardio-regulating center, efferent pathways. Ventricular pressure and volume during the cardiac cycle. Cardiac throw. Cardiac work.
Atmospheric air composition and partial gas pressures. Static lung volumes. Pulmonary and alveolar ventilation. Pressure-volume diagram of the lung and chest wall. Intrapleural depression. Respiratory work. O2 consumption and CO2 production. Respiratory quotient. Alveolar air equation. Alveolus-capillary diffusion of respiratory gases. Transport of O2 and CO2 in the blood. Blood dissociation curves for O2 and CO2 Ventilation-perfusion ratio. Nervous regulation of ventilation.
Ionic volume and composition of the intracellular and extracellular compartments. Glomerular filtration. Renal clearance. Maximum tubular load. Absorption of water, Na +, Cl-, bicarbonates, amino acids, glucose, urea. Secretion of H + and organic substances. Henle loop. Osmoticity of the tubular and interstitial peritubular fluid in the various areas of the loop. Function of the vasa recta.
Buffer systems of the organism. Isoidic principle. Fixed and respiratory acidosis and alkalosis Respiratory and renal regulation of the pH of body fluids.
Energy sources: alactacid, glycolytic and aerobic lactacid mechanism. Caloric value of food and calorie equivalent of O2. Oxygen debt. Basal metabolism, rest and during exercise.
Skeletal muscle function. Isometric, isotonic and isovelocity contraction. Single shock, clone, tetanus. Force-length diagram. Force-speed contraction diagram
General characteristics of the digestive tract. Salivary, gastric, hepatic and pancreatic secretions. Peristaltic movements and their regulation. Gastrointestinal hormones. Digestion and absorption. Structure, mechanism of functioning and control of hormones.
Hormonal function of: anterior, posterior and intermediate pituitary; medullary and cortical of the adrenal glands; thyroid, parathyroid, endocrine pancreas, intestinal wall, gonads
MEDICAL GENETIC
mutations wit related genetic pathologies (Down, Patau, Edwards Syndromes, Sex chromosomes pathologies and intesexes, Fragile-X Syndrome, Huntington’s Corea, Uniparental disomy, Prader-Willi Syndrome, Angelman Syndrome, Phenylchetonuria, Cystic Fibrosis, Duchenne Muscular Dystrophy, Hemophilia, Daltonism). It will be analyzed the structure and morphology of the human chromosomes and the normal human karyotype and the related techniques for the setting-up (Classical Cytogenetic). It will be analyzed the molecular techniques for the detection of the genetic pathologies (Molecular Cytogenetics, FISH, aCGH, SNP-Array, Sanger Sequencing, microsatellites analysis, cell-free-fetal DNA). Following, it will be analyzed the study of the human pedigrees related to human hereditary pathologies with related exercises.
The teaching takes place through lectures conducted by the teacher with the help of IT support materials. The student will be guided to the understanding of physiological and genetic processes through the presentation of images and general description schemes, accompanied by insights and explanations of quantitative meaning made using graphs, equations and numerical examples that lead to the understanding of the functioning mechanisms of cells, tissues and organs. Students will be invited to speak during the lesson for any questions, further explanations and / or insights.
The material shown in class will be made available to students on the e-learning site
The professors receive students by appointment fixed by e-mail addresses.
Prof. Daniela Negrini - daniela.negrini@uninsubria.it
Prof. Roberto Valli - roberto.valli@uninsubria.it
Modules
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Credits: 3
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Credits: 2