Biomedical Laboratory techniques

Module 1:

Activity type: Scienze della prevenzione e dei servizi sanitari
SSD: BIO/12
Year: 1st year
Semester: 2nd semester
CFU: 2
Hours distribution: 20 classroom hours
Lecturers: ANNA REALE

Module 2:

Activity type: Scienze della prevenzione e dei servizi sanitari
SSD: BIO/12
Year: 1st year
Semester: 2nd semester
CFU: 2
Hours distribution: 20 classroom hours
Lecturers: GIUSEPPE ZARDO

Module 3:

Activity type: Scienze e tecniche di laboratorio biomedico
SSD: MED/46
Year: 1st year
Semester: 2nd semester
CFU: 1
Hours distribution: 10 classroom hours
Lecturers: GERARDO SALERNO

Module 4:

Activity type: Scienze e tecniche di laboratorio biomedico
SSD: MED/03
Year: 1st year
Semester: 2nd semester
CFU: 1
Hours distribution: 10 classroom hours
Lecturers: MARIA PIANE

Learning outcomes

Module:
In the field of knowledge and understanding, the student must know:
- the metabolic alterations associated with major diseases and to define biomarkers of metabolic functions.
- the general aspects of laboratory tests and, in particular, the use of some biochemical markers as indicators of ongoing pathological processes.
- the potential and limits of the information provided by laboratory tests
In the field of ability to apply knowledge and understanding, the student must know how to use the main methods of clinical biochemistry and molecular biology.
In the context of independent judgement, the student must show the ability to identify the limits and potential of the methodologies used.

Module:
N/D
Module:
N/D
Module:
Medical Genetics aims to provide the basic general concepts necessary to understand the mode of transmission of hereditary characteristics normal and pathological. At the end of the course the student will learn about the inheritance of some genetic disorders.

Prerequisites

Module:
For a fruitful study of the subject, and for an adequate understanding of the didactic materials are required notions of general and inorganic chemistry, biochemistry and molecular biology.

Module:
N/D
Module:
N/D
Module:
Knowledge of:
The structure and function of DNA
From DNA to protein: transcription, RNA splicing the genetic code, translation. Mitosis meiosis

Programme

Module:
GENERAL PART
Laboratory tests: definition, type, reasons for the request. The units of measurement.
Stages of the analytic process. Pre-analytical phase: summary of the main pre-analytical steps (in particular interfering substances in the analyzes) and pre-analytical variability. Analytical phase: the analytical process. Analytical variability: characteristics of measurement techniques, analytical error. Biological variability and goals of precision and accuracy, quality control. Post-analytical phase: biological variability and reference values. The diagnostic logic in laboratory medicine: sensitivity, specificity and predictive value of laboratory tests.

MAIN ISSUES
Enzymatic determinations and their clinical use. Determination of the catalytic activity of plasma enzymes. Enzymatic kinetics. Factors affecting the plasma concentration of enzymes. Role of enzymes in clinical diagnosis. Enzymograms and Isoenzymes. Creatine kinase (CK) and lactic dehydrogenase (LDH) isoenzymes

Biomarkers of myocardial damage. Biochemical alterations in acute myocardial infarction. Clinical use of early and late markers: myoglobin, CK-MB, Troponin I and T.

Alterations of lipid metabolism - Summary of the structure of lipoproteins, apolipoproteins. Exogenous metabolism and endogenous metabolism of lipoproteins. Laboratory determination of total cholesterol, HDL-cholesterol and LDL-cholesterol. Enzymatic determination of triglycerides. Methods of determination of lipoproteins. Dyslipidemias: classification and evaluation. Atherosclerosis and main risk factors. Role of LDL-cholesterol and HDL-cholesterol in atherosclerosis Laboratory tests for the identification of subjects with high cardiovascular risk: apoproteins, homocysteine, lipoptotein (a).

Module:
N/D
Module:
N/D
Module:
Aims of the Course:

Medical Genetics aims to provide the basic general concepts necessary to understand the mode of transmission of hereditary characteristics normal and pathological. At the end of the course the student will learn about the inheritance of some genetic disorders.

Program of Medical Genetics

The structure and function of DNA
From DNA to protein: transcription, RNA splicing the genetic code, translation.
Human genome organization
Genes and mutations.
Origin of mutations. Point mutations, deletions, insertions, splicing mutations, dynamic mutations.
Structure and function of chromosomes.
Human chromosomes: the number, structure and function.
Chromosomal aberrations.
The normal and pathological human karyotype
Correlations between gametogenesis, meiosis, and segregation.
Family pedigrees: symbols
Concepts of inherited traits, gene, allele, locus
Mendel's laws and allelic interactions: dominance and recessive, phenotype and genotype
Family pedigrees: symbols
Classification of genetic disorders
Examples of hereditary monogenic Mendelian transmission:
autosomal dominant, autosomal recessive, X-linked recessive, X-linked dominant.
Non Mendelian inheritance

Books

Module:
"Biochimica Clinica e Medicina di Laboratorio", Marcello Ciaccio e Giuseppe Lippi; EdiSES

"Metodologie biochimiche e biomolecolari", Mauro Maccarone; Zanichelli

Module:
N/D
Module:
N/D
Module:
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:
N/D
Module:
N/D
Module:
N/D
Module:
N/D

Lessons mode

Module:
face to face lessons

Module:
N/D
Module:
N/D
Module:
scritto in forma di test a risposta multipla

Frequency

Module:
mandatory attendance

Module:
N/D
Module:
N/D
Module:
obbligatoria

Exam mode

Module:
The written test consists in the administration of a questionnaire of 30 questions (20 questions related to the Clinical Biochemistry module, 10 questions for the Clinical Pathology module).
The student who has passed the written exam can access the oral exam.

Module:
N/D
Module:
N/D
Module:
scritto in forma di test a risposta multipla

Example exam questions

Module:
2) Apolipoprotein Apo B-100 is important because:
a. activates lipoprotein lipase
b. inhibits lipoprotein lipase
c. binds the LDL receptor
d. activates the LCAT activity
e. binds chylomicrons

Module:
N/D
Module:
N/D
Module:
domanda a risposta multipla e a risposta aperta

Arguments