DEPARTMENT OF GENERAL SURGERY AND MEDICAL-SURGICAL SPECIALTIES
Master's Degree in Medicine and Surgery
Academic Year 2017/2018 - 5° Year

CLINICA PEDIATRICA Nuovo canale 4

Teaching Staff

Learning Objectives

• Pediatrics
  

  Learn physological aspects of the newborn and child with attention to the developmental processes both on the physical and motor development

  Identify appropriate diagnostic procedure aand differential diagnosis of main conditions

  Learn Clinical and laboratory aspects of the main pediatric age diseases

  learn how suspect a genetic metabolic disease

• 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

• Pediatrics
  

  The newborn

  The heathy newborn and his adaptation to extrauterine environment

  Low birth weight newborn (SGA)

  Hyperbilirubinemias

  Normal development and growth

   

   

  Genetic diseases

  Down syndrome

  Turner syndrome

  Klinefelter syndrome

   

  Metabolic diseases

   

  Newborn screenings

  Phenylketonuria

  Inborn errors metabolism

  Lysosomal disorders: Mucopolysaccharidoses, Gaucher disease, Fabry disease

   

   

  Cardiology

  Congenital and acquired cardiopathies

   

  Streptococcal infections and complications

  Shoenlein Hoenoch disease

  Kawasaki disease

   

  Kidney and urinary tract

  Glomerulonephritis

  Nephrosis

  Urinary infections

   

  Gastroenterology

   

  Celiac disease

  Inflammatory disease: Chron disease

  Respiratoty diseases

  Asthma

  Bronchiolitis

  Broncopulmonitis

  Cystic fibrosis

  Infectious diseases

   

  Pertussis

  Brucella

  Rickettsiosis

  Leishmaniosis

  Measles

  Rubeola

  Megaloerithema (V disease)

  Esanthema subitum (VI disease)

   

  Chicken pox

  Parotitis

  EBV Mononucleosis

   

  Neuro muscular disorders

  Headache

  Febrile seizures

  Epilepsia

  Hydrocefalus

  Cerebral palsy

  Encefalitis e meningitis

  Neurocutaneous disorders

  Neurofibromatosis

  Tuberous Sclerosis

  Muscle dystrophies

  Endocrine

   

  Diabetes

  Insipid diabetes

  Congenital hypothyroidism

   

   

  Blood disorders and pediatric oncology

   

  Norma values in the newborn/child

  Anemias

  Iron defects

  Haemolytic anemias

  Spherocitosis

  Autoimmune Haemolytic anemia

  G6PD

  Thalassemia

  Drepanocytosis.

  Immunodeficiencies

  Splenolegaly

  Piastrinopenia

  Acute Leucemia

  Main solid tumors in the child

• 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

  2. 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

  3. Other patterns of inheritance
     1. Mitochondrial inheritance
     2. Polygenic and multifactorial inheritance
     3. Models of multifactorial diseases
     4. The genetic basis of complex diseases

  4. Population Genetics
     1. the Hardy-Weinberg equilibrium and its deviations
     2. Founder effect and genetic drift

  5. 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

  6. Developmental Genetics
     1. Abnormalities of the signaling pathways: FGF, SSH, Wnt e TGF-β
     2. Transcription factors

  7. Cancer genetics
     1. Tumor Suppressor genes
     2. Oncogenes
     3. Hereditary cancer

   

  8. Genetic counselling
     1. Definition and principles
     2. Recurrence risk , the bayesian method

  9. New techniques in molecular genetics

Textbook Information

• Pediatrics
  
  1. Rudolph-Kamei-Overby – Manuale di Pediatria – Mc Graw Hill
  2. Careddu- Castello – Pediatria generale e specialistica – Casa Editrice Ambrosiana
  3. Schwartz Tiene
  4. Principi – Rubino – Vierucci - Pediatria generale e specialistica– Casa Editrice Ambrosiana
  5. Nelson – Manuale di Pediatria - Elsevier
  6. Bona-Miniero Pediatria Pratica, edizioni Minerva Medica
• Medical Genetics
  

  Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier

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