CLINICA PEDIATRICA Nuovo canale 2

8 CFU - 2° Semester

Teaching Staff

MARTINO RUGGIERI - Module PEDIATRIA - MED/38 - 5 CFU
MARCO FICHERA - Module Medical Genetics - MED/38 - 2 CFU
VINCENZO DI BENEDETTO - Module CHIRURGIA PEDIATRICA - MED/38 - 1 CFU

Learning Objectives

PEDIATRIA
General paediatrics deals with the overall health (e.g., physical, mental and social health) and with the study of prevention of diseases during childhood (i.e., during the developmental age) [with developmental age we mean the period between the prenatal age (i.e., the three phases preceding birth) and the end of the natural process of physical growth and cognitive maturation (which, according to the European standards ends up at age 18 years and by the USA standards ends up at about age 20-22 years)].

Specifically, this teaching deals with:

(a) Physiology and development of the neonate (including topics dealing with neonatal pathology), the child and the adolescent;

(b) Prevention paediatrics, i.e., all medical acts and activities aimed to reduce mortality secondary to given diseases and morbidity (i.e., the frequency of given diseases) in children;

(c) Specialty paediatrics, i.e. all acute and chronic diseases affecting various organs during the developmental age: cardiology, respiratory medicine, gastroenterology, neurology, haematology, oncology, endocrinology, rheumatology, infectious diseases, and dermatology;

(d) Social paediatrics, i.e., health problems catering from the overall childhood community (prevention ans community medicine)

The course aims to provide the students with the basic knowledge of paediatrics and the fundaments of paediatrics, which is of outmost importance for those dealing with childhood and with the children’s (and adolescents’) world and more in general with their related health problems.

The course aims to provide the bases and fundaments of: (a) anatomy and physiology during development; (b) prevention and social medicine during development; (c) health education and understanding of diseases during childhood and adolescence and of the main acute and chronic conditions physically or mentally disabling children or interfering with their learning processes.

So as to provide the students with the basic and fundamental principles of paediatrics and paediatric diseases the course will deal with basic principles of anatomy and physiology in the developmental age, moving then to the main conditions affecting organs illustrating the causes and the basic mechanisms of diseases, thr social impact of diseases during childhood and the main clinical manifestations along with the most important and recent therapeutic strategies.

Thus, the topics will deal with the most frequent conditions affecting children during development. These topics will represent the most frequent medical conditions faced by psychologists. In addition the course will include basic notions of nutrition, growth and development modalities along with related neurological, behaviour and cognitive problems.

Lessons will be given by using power-point presentations and plastic anatomical models and will include clinical laboratories (e.g., held at the Unit of Clinical Pediatrics, [Building 2, 1st floor), AOU Policlinico-Vittorio Emanuele, Presidio “G. Rodolico, Via S. Sofia, 78 - Catania] providing students with practical lessons on how to examine a child and how to recognise a given disease.

Pre-requisites:

Anatomy, basic embryology and physiology of the human body and organs. At the high school level.
Medical Genetics
At the end of the course, students should be able to:

Describe the types of genetic variation seen in the human genome and explain how these variations affect disease states and diversity of normal variation. Perform pedigree analysis and apply principles of inheritance in calculating genetic risk for a variety of genetic disorders and patterns of inheritance; and incorporate knowledge of population genetics to calculate genetic risk based on carrier frequency within a population. Explain and identify non-Mendelian mechanisms such as: reduced penetrance, variable expressivity, uniparental disomy, mosaicism, genomic imprinting and unstable repeat expansion. Understand the molecular basis of developmental and cancer genetics. Know the basic principles of Genetic counselling.

Detailed Course Content

PEDIATRIA
1. GENERAL TOPICS: Paediatrics (general concepts); History of paediatrics and infancy across the centuries; vaccination procedures; nutrition and feeding procedures; personal hygiene; principles of genetics and heredity; rare disease.
2. NEONATAL AND CHILDHOOD PHYSIOLOGY.
SPECIALTY PAEDIATRICS: cardiology, respiratory medicine, gastroenterology, neurology, haematology, oncology, endocrinology, rheumatology, infectious diseases, and dermatology.
Medical Genetics
1. Genetic and genomic variations and their causes
  1. Concepts of polymorphism and mutation and their evolutionary significance
  2. Functional Classification of sequence mutations
  3. Costitutional and somatic mutations
1. Inheritance patterns of Mendelian and sex-linked genetic diseases
  1. Dominant, recessive and sex-linked alleles
  2. Pseusodominant and digenic inheritance
  3. Penetrance and expressivity
  4. Mosaicism
  5. Genomic imprinting
  6. Anticipation and repeat expansion diseases
1. Other patterns of inheritance
  1. Mitochondrial inheritance
  2. Polygenic and multifactorial inheritance
  3. Models of multifactorial diseases
  4. The genetic basis of complex diseases
1. Population Genetics
  1. the Hardy-Weinberg equilibrium and its deviations
  2. Founder effect and genetic drift
1. The chromosomal basis of genetic diseases
  1. Abnormalities of chromosome number and meiotic non-disjunction
    1. Turner syndrome , Down syndrome , Edwards syndrome, Patau syndrome
  2. Abnormalities of chromosomal structure
    1. Translocations, Inversions, deletions, duplications
    2. The plasticity of human genome : The copy number variants
    3. Mechanisms of of copy number variants formation
  3. Uniparental disomy
    1. Trisomic e monosomic rescue
  4. Technical approaches for chromosome structure analysis
    1. Karyotype
    2. FISH
    3. Array-CGH and SNP-array
1. Developmental Genetics
  1. Abnormalities of the signaling pathways: FGF, SSH, Wnt e TGF-β
  2. Transcription factors
1. Cancer genetics
  1. Tumor Suppressor genes
  2. Oncogenes
  3. Hereditary cancer
1. Genetic counselling
  1. Definition and principles
  2. Recurrence risk , the bayesian method
1. New techniques in molecular genetics

Textbook Information

PEDIATRIA
ENGLISH:

Cain, Dickey, Hogan, Jackson, Minorsky, Reece, Simon, Taylor, Urry, Wassermann: Campbell. Biology: Principles and Links. Molecular Biologu and Human Body. Linx, 2015

Lissauer T, Clayden G. Illustrated Textbook of Paediatrics, 5th ed. Edinburgh: Mosby, 2016
Medical Genetics
Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier

Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier

Open in PDF format Versione in italiano