BASES MORPHOLOGICAL AND FUNCTIONAL CELL Single channel
Chair (Coordinator) and Rapporteur: ROSSELLA MAIONE
Module 1: Biochemistry
- Activity type
- Scienze biomediche
- SSD
- BIOS-10/A
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 12 classroom hours
- Lecturers
- ROSSELLA MAIONE
Module 2: BIOLOGIA
- Activity type
- Scienze propedeutiche
- SSD
- PHYS-06/A
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 12 classroom hours
- Lecturers
- Giuseppe Marzo
Module 3: MEDICAL GENETICS
- Activity type
- Scienze biomediche
- SSD
- BIOS-07/A
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 2
- Hours distribution
- 24 classroom hours
- Lecturers
- MARZIA ARESE
Module 4: APPLIED PHYSICS
- Activity type
- Scienze biomediche
- SSD
- MEDS-01/A
- Year
- 1st year
- Semester
- 1st semester
- CFU
- 1
- Hours distribution
- 12 classroom hours
- Lecturers
- MARIA PIANE
Objectives
The student will acquire the foundation for understanding the functioning of the cell and the human body
Learning outcomes
By the end of the course, the student must:
• Be able to enunciate and explain a fundamental law of physics, by using the appropriate notation and the correct symbols for the physics quantities they represent.
• Be able to recognize and apply the fundamental physics laws that are needed to explain a physics phenomenon in a context that is either generic, applied to medicine or applied to biology.
• Explain the atomic structure and the features of the periodic table of elements.
• Understand the concentration units stated on the labels of chemical substances for medical treatments and know how to use it.
• Recognize the main classes of biological molecules based on functional groups and establish their respective structure/function relationships.
• Recognize the main catabolic or anabolic pathways of cell metabolism.
• Delineate the main aspects of structural and functional organization of cells and sub-cellular compartments.
• Have a clear view of the flow of genetic information and be able to explain the mechanisms by which genetic traits and diseases are inherited.
Prerequisites
An adequate preparation, attained during high-school studies, demonstrating the knowledge of the elementary principles of Chemistry, Physics and Biology.
Programme
Module: Biochemistry
-Introduction to cell biology
Properties of living organisms
Main classes of biological molecules: carbohydrates, lipids, proteins and nucleic acids
Prokaryotic and eukaryotic cells. Viruses
-Cellular structure and function
Cell membrane and transport
Cell compartments
Cytoskeleton and cell motility
Interactions between cells and their environment
-Storage and transmission of genetic information
The structure and function of the DNA
Chromatin and chromosomes
DNA replication
-Expression of genetic information
Transcription and RNA maturation
Genetic code and translation
Regulation of gene expression and cell differentiation
-The cellular basis of reproduction
Cell cycle and mitosis
Sexual reproduction and genetic variability.
Haploidy and diploidy
Meiosis, gametogenesis and fertilization
-Outline of the main diagnostic and therapeutic applications of biotechnologies
DNA manipulation and analysis
Gene therapy
Stem cells
Module: BIOLOGIA
Physical Quantities
Fundamental physical quantities. The International System (SI). The scientific method. Models in physics. Measurement. Measuring instruments. Uncertainty interval and measurement uncertainty. Absolute and relative error. Scalar and vector quantities. Vectors. Graphical representation of a vector. Composition and decomposition of vectors. Operations with vectors.
Kinematics
Reference systems. Position–time law. Definition of velocity and acceleration. Uniform circular motion. Tangential velocity and centripetal acceleration. Period and frequency.
Dynamics
Concept of force. The laws of dynamics. Weight force, elastic force, friction.
Work and Energy
Definition of work, power, and energy. Kinetic and gravitational potential energy. Principle of conservation of energy. Mechanical energy and the principle of conservation of mechanical energy.
Statics
Equilibrium of a material point. Equilibrium of a rigid body. Moment of a force. Levers, with examples related to the human body.
Fluids
Concept of pressure. Hydrostatic equilibrium. Pascal’s principle. Stevin’s law. Atmospheric pressure. Steady flow. Continuity equation. Bernoulli’s theorem. Poiseuille’s law.
Thermology
Thermal equilibrium. Thermometers and temperature scales. Heat and calorie. Heat conduction.
Electrology
Electric charge. The atom. Coulomb’s law. Electric field. Electric potential. Capacitance. Electric current. Ohm’s law. Electric circuit. Joule effect. Application of concepts to the cell.
Module: MEDICAL GENETICS
1) Basic Chemistry:
- The atom and the chemical bond, the periodic table, electronegativity, octet rule.
- Inorganic and organic molecules: structure, functional groups.
- Groundwork on the gaseous state: parameters and laws. Air composition, properties of oxygen and toxic gases. Henry's Law: hyperbaric chambers.
- Physico-chemical properties of water; polarity, hydrogen bond.
- Solutions: definition and concentration measurement.
- Electrolytes.
- Colligative properties: the osmotic pressure. Hydro-saline balance: edema and dehydration. Passive diffusion: the dialysis.
- Acids and bases. pH, notes about biological buffers.
2) Structure and function of biological molecules:
- Carbohydrates. Mono-, oligo- and polysaccharides. (glucose, sucrose, starch, glycogen, cellulose), insight on blood groups and on glycosaminoglycans.
- Lipids and biological membranes. (cholesterol, phospholipids, triglycerides); biological membranes.
- Amino acids and proteins. Structure-function relationships. Membrane and cytosolic proteins.
- insights on protein models such as: Hemoglobin. Myoglobin, Collagen, Immunoglobulins, Na+/K+pump, receptors, ATP synthase.
- Hints on the biological and enzymatic reactions.
- Hints on energy metabolism.
- Overview on the structure and function relationship of nucleotides and nucleic acids.
Module: APPLIED PHYSICS
Structure and function of DNA
From DNA to proteins: transcription, RNA splicing, the genetic code, translation.
Organization of the human genome
Genes and gene mutations
Origin of mutations: point mutations, deletions, insertions, splice-site mutations, dynamic mutations.
Human chromosomes: number, structure, and function.
Chromosomal abnormalities
Normal and pathological human karyotype
Relationships among gametogenesis, meiosis, and segregation
Mendelian inheritance
Heritable trait, gene, allele, locus
Mendel’s laws: dominance and recessiveness; phenotype and genotype.
Pedigree analysis: symbols and notation.
Model of Transmission of Mendelian traits
Classification of genetic diseases
Examples of monogenic disorders with Mendelian transmission: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive.
Non-Mendelian inheritance
Books
Module: Biochemistry
• Campbell, & Reece. Biologia e genetica Ed. Pearson.
• Sadava, Heller, Orians, Purves, Hillis Elementi di Biologia e Genetica. Ed. Zanichelli.
• Bonaldi, Crisafulli, D’Angelo, Francolini et al. Elementi di Biologia e Genetica. Ed. EdiSES.
• Solomon, Berg, Martin. Elementi di Biologia. Ed. EdiSES.
• Roberti, Alunni Bistocchi, Antognelli, Talesa. Biochimica e Biologia. Ed. McGraw-Hill
Additional texts will be agreed with the teacher during the course
Module: BIOLOGIA
Contessa, Gian Marco & Marzo, Giuseppe Augusto. Fisica applicata alle scienze mediche. Con espansione online. CEA (Casa Editrice Ambrosiana) / Zanichelli, 2019. ISBN 978-88-08-82032-7
Module: MEDICAL GENETICS
Choose among the following, the English version to be considered:
- Samaja, Paroni “Chimica e Biochimica” Ed. Piccin
- Bertoldi, Colombo " Chimica e Biochimica " EdiSES
- Stefani, Taddei “Chimica, Biochimica e Biologia applicata” Zanichelli
- Marinello, Raggi. “Elementi di Chimica e Biochimica Medica”. Ed ETS
- Roberti, Alunni Bistocchi. "Biochimica e biologia per le professioni sanitarie" Ed. Mc Graw Hill Education.
- Catani, Gasperi “Appunti di Biochimica per le lauree triennali” PICCIN
Module: APPLIED PHYSICS
Biologia e Genetica N A. Campbell e J B. Reece:. Pearson
Elementi di biologia e genetica. William K. Purves, David Sadava, Gordon H. Orians, H. Craig Heller: Ed Zanichelli
Genetica umana e medica (Neri, Genuardi) Ed. Elsevier Masson
Links consigliati: Mendelian Inheritance in Man : http://www.ncbi.nlm.nih.gov/Omim/
Bibliography
Module: Biochemistry
N/D
Module: BIOLOGIA
N/D
Module: MEDICAL GENETICS
N/D
Module: APPLIED PHYSICS
N/D
Lessons mode
Classroom lessons and exercises.
Self-assessment tests by which the student can monitor his/her learning throughout the course and, if necessary, fill the gaps by meetings with the teachers.
Frequency
Only those students who have attended at least 67% of the lessons are admitted at the exam
Exam mode
Final assessment of the student's achievements of the expected learning outcomes by written and oral exam.
Example exam questions
Written test consists of multiple choice questions, with some parts to fill in the blank and short open answers, one open question (ex. short image description).
Arguments
Module: Biochemistry
- -
Introduction to cell biology
Properties of living organisms
Main classes of biological
molecules: carbohydrates, lipids, proteins and nucleic acids
Prokaryotic and eukaryotic
cells. Viruses - -
Cellular structure and function
Cell membrane and transport
Cell compartments
Cytoskeleton and cell motility
Interactions between cells and
their environment - -
Storage and transmission of genetic information
The structure and function of
the DNA
Chromatin and chromosomes
DNA replication - -
Expression of genetic information
Transcription and RNA
maturation
Genetic code and translation
Regulation of gene expression
and cell differentiation - -
The cellular basis of reproduction Cell cycle and mitosis Sexual reproduction and genetic variability.
Haploidy and diploidy. Meiosis, gametogenesis and fertilization - - Outline of the main diagnostic and therapeutic applications of biotechnologies.DNA manipulation and analysis.Gene therapy.Stem cells.
Module: BIOLOGIA
- - **Physical Quantities** Fundamental physical quantities. The
International System (SI). The scientific method. Models in physics.
Measurement. Measuring instruments. Uncertainty interval and measurement
uncertainty. Absolute and relative error. Scalar and vector quantities. Vectors.
Graphical representation of a vector. Composition and decomposition of vectors.
Operations with vectors.- **Kinematics** Reference systems. Position–time
law. Definition of velocity and acceleration. Uniform circular motion.
Tangential velocity and centripetal acceleration. Period and frequency. - - **Dynamics** Concept of force. The laws of
dynamics. Weight force, elastic force, friction.- **Work and Energy** Definition of work, power, and
energy. Kinetic and gravitational potential energy. Principle of conservation
of energy. Mechanical energy and the principle of conservation of mechanical
energy. - - **Statics** Equilibrium of a material point.
Equilibrium of a rigid body. Moment of a force. Levers, with examples related
to the human body.- **Fluids** Concept of pressure. Hydrostatic
equilibrium. Pascal’s principle. Stevin’s law. Atmospheric pressure. Steady
flow. Continuity equation. Bernoulli’s theorem. Poiseuille’s law. - - **Thermology** Thermal equilibrium. Thermometers
and temperature scales. Heat and calorie. Heat conduction.- **Electrology** Electric charge. The atom. Coulomb’s
law. Electric field. Electric potential. Capacitance. Electric current. Ohm’s
law. Electric circuit. Joule effect. Application of concepts to the cell.
Module: MEDICAL GENETICS
- Atomic structure, the periodic table, and the
octet rule (week 1) - Chemical bond in relevant
molecules: water, ammonia, methane, sodium cloride (week 2) - gaseous state: molecular oxygen and air composition (week 3)
- Solutions: Concentration and
Electrolytes (strong and weak), osmosis (week 3, second part) - Acids and bases (weak and strong) and pH (week 4)
- lipids (cholesterol, phospholipids,
triglycerides); biological membranes (week 5) - Carbohydrates (glucose and
blood groups insight) (week 5, second part) - Amino acids and proteins (cytosolic and membrane) in
depth: Globins (hemoglobin/myoglobin), collagen, insulin, Na+/K+ pump, ATP
synthase. Notes on biological and enzymatic
reactions. (week 6) - Overview on energy metabolism, catabolic/anabolic
pathways, and ATP.Overview on the structure and function of nucleotides and
nucleic acids. (week 7)
Module: APPLIED PHYSICS
- Organization of the human genome Genes and gene mutations Origin of mutations: point mutations, deletions, insertions, splice-site mutations, dynamic mutations.Human chromosomes: number, structure, and function.
- Chromosomal abnormalities Normal and pathological human karyotypeRelationships among gametogenesis, meiosis, and segregation
- Mendelian inheritance Heritable trait, gene, allele, locusMendel’s laws: dominance and recessiveness; phenotype and genotype.Pedigree analysis: symbols and notation.
- Model of Transmission of Mendelian traits Classification of genetic diseasesExamples of monogenic disorders with Mendelian transmission: autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive. Non-Mendelian inheritance
Sustainability goals
- Academic year2026/2027
- Degree program to which the course belongsNursing - Roma Azienda Ospedaliera Sant’Andrea
- Mandatory presenceYes
- Languageita
- CFU5 CFU, distributed among 4 integrated didactic modules
- Total duration60 hours