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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

• 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

• 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

• 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 31 dic. 2010 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