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CLINICA PEDIATRICA - channel 3

Teaching Staff

ANDREA DI CATALDO - Module Pediatria - MED/38 - 5 CFU
SALVATORE LEONARDI - Module Pediatria
TERESA MATTINA - Module Medical genetics - MED/03 - 2 CFU
VINCENZO DI BENEDETTO - Module Pediatric Surgery - MED/20 - 1 CFU

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Learning Objectives

• Pediatria
  

  Learning physiology, pathology, clinical and laboratory approach, therapy related to growing individuals, specific issues of preventive pediatrics, pediatric diseases from neonatal age through adolescence

• Medical genetics
  

  The course aims at the acquisition of skills regarding genetic diseases, the genetic component of multifactorial diseases, genetic counseling, clinical approach, diagnostic techniques, genetic tests, ethical problems.

• Pediatric Surgery
  

  Learning and improve knowledges of the most common congenital malformations, antenatal diagnosis with multidisciplinary counseling associated and their therapeutic approachs.

  Learning of the gastrointestinal and urological pediatric surgical emergencies.

Course Structure

• Pediatria
  

  Academic lessons; practice according to specific calendar scheduled by the Coordinator of Medicine Degree Course

• Medical genetics
  
  1. General information on genetic diseases. Frequency and clinical importance of genetic diseases. Genes and environment as a cause of illness. Malformative syndromes.
  2. Family trees Mendelian diseases. Characteristics of autosomal dominant mendelian diseases. Characteristics of autosomal recessive mendelian diseases. Characteristics of sex linked diseases, Dominant or Recessive.
  3. Genetic heterogeneity. Digenic inheritance. Polygenic and multifactorial diseases. Epigenetics.
  4. Imprinting, uniparental disomy. Dynamic mutations. Mitochondrial diseases.
  5. Chromosomal diseases, chromosome microdelection /microduplication syndromes. Genomic variants. Balanced chromosomal alterations.
  6. Mosaicism. Loss of heterozygosity. Oncogenetics.
  7. Genetic counseling. Prenatal-postnatal diagnosis. Guidelines. Informed consent. Ethical problems.
  8. Chromosomal and genomic analysis : traditional karyotype, FISH, CGH array, SNP array. DNA tests: Molecular analysis: search for known mutations, MLPA, Sanger sequencing, NGS. Sequence variants, duplication/deletions.
• Pediatric Surgery
  

  Lessons and video of clinical cases and surgical procedures.

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Detailed Course Content

• Pediatria
  

  Neonatology

  The healthy newborn

  The newborn infant and newborn care

  Low birth weight newborn

  Post-term newborn

  Birth defects

  Birth trauma

  Neonatal asphyxia

  Neonatal jaundice

  Neonatal seizures

  Neonatal coagulopathies

  Neonatal infections

  Neonatal respiratory distress syndrome

  Intensive neonatal care

   

  Preventive Pediatrics

  Pediatric primary care

  Normal growth and development

  Methods to evaluate growth. Bone age. Clinical evaluation of puberal maturation

  Feeding: infant, toddler, child and adolescent.

  Breast feeding

  Milk formula

  Weaning

  Neonatal screening

  Carrier state screening

  Vaccination

  Domestic accidents

   

   

   

  General Pediatrics

  Growth failure

  Nutritional defects

  Congenital cardiopathies

  Infectious diseases

  Exanthematous diseases

  Viral diseases

  Visceral Leishmaniasis

  Allergy

  Asthma

  Respiratory infections

  Cystic fibrosis

  Celiac disease

  Gastroenteritis

  Nephrotic syndrome

  Glomerulonephritis

  Primary immunodeficiencies

  Metabolism diseases

  Galactosemia

  Phenylketonuria

  Endocrine diseases

  Congenital hypothiroidism

  Diabetes

  Congenital adrenal hyperplasia

  Puberal disorders

  Hypopithuitarism

  Fever of unknown origin

  Mendelian diseases

  Chromosomic diseases

  Systemic inflammatory diesases

  Juvenile Idiopathic Arthritis

  Systemic Lupus Erithematosus

  Henoch Schönlein purpura

  Inflammatory bowel diseases

  Kawasaki disease

  Seizures and epilepsy

  Atopic dermatitis

   

  Pediatric Hematology

  Normal hematology values trough childhood

  Anemias

  Thalassemias

  Sickle Cell Disease

  Iron deficiency anemia

  G6PD

  Splenomegalies

  Lymph node disorders

  Coagulopathies

  Thrombocytopenias

  Leukemias and lymphomas

  Tumours in children

• Medical genetics
  

  General information on genetic diseases. Frequency and clinical importance of genetic diseases. Genes and environment as a cause of illness. Malformative syndromes. Family trees Mendelian diseases. Characteristics of autosomal dominant mendelian diseases. Characteristics of autosomal recessive mendelian diseases. Characteristics of sex linked diseases, Dominant or Recessive. Genetic heterogeneity. Digenic inheritance. Polygenic and multifactorial diseases. Epigenetics. Imprinting, uniparental disomy. Dynamic mutations. Mitochondrial diseases. Chromosomal diseases, chromosome microdelection /microduplication syndromes. Genomic variants. Balanced chromosomal alterations. Mosaicism. Loss of heterozygosity. Oncogenetics. Genetic counseling. Prenatal-postnatal diagnosis. Chromosomal and genomic analysis : traditional karyotype, FISH, CGH array, SNP array. DNA tests: Molecular analysis: search for known mutations, MLPA, Sanger sequencing, NGS. Sequence variants, duplication/deletions.Guidelines. Informed consent. Ethical problems.

• Pediatric Surgery
  

  INGUINAL AND SCROTAL DISORDERS:

  1. Inguinal hernia
  2. hydrocele
  3. hydrocele of cord
  4. undescended testis
  5. acute conditions of the scrotum (testicular torsion, torsion of testicular appendages, epididymitis and orchitis)

  
  INTESTINAL DISEASES:

  1. abdominal wall defects: gastroschisis and onfalocele
  2. intestinal obstructions,
  3. esophageal atresia,
  4. hypertrophic pyloric stenosis,
  5. intestinal malrotation
  6. intestinal duplications,
  7. intestinal intussusceptions,
  8. Meckel diverticulum,
  9. Nec
  10. anorectal malformations.

  
  UROLOGICAL DISEASES:

  1. Pyeloureteral obstruction,
  2. Urinary tract infections and Vesicoureteral reflux,
  3. Megaureter,
  4. Ureterocele,
  5. Posterior urethral valves.

  
  GENITALIA:

  1. Labial fusion,
  2. Phimosis,
  3. Hypospadia,
  4. Epispadias,
  5. Varicocele.

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Textbook Information

• Medical genetics
  

  1) Genetica umana e medica 4 edizione 2017 di Giovanni Neri e Maurizio Genuardi Masson

  2) lectures notes

• Pediatric Surgery
  

  Chirurgia Pediatrica - Approccio e gestione del bambino con problemi chirurgici.

  Autore: G. Parigi

  Editore: Elsevier

  Holcomb and Ashcraft's Pediatric Surgery

  7Th Edition

  Editore: Elsevier

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Open in PDF format Versione in italiano