CLINICA PEDIATRICA - channel 3

8 CFU - 2° Semester

Teaching Staff

ANDREA DI CATALDO - Module Pediatria - MED/38 - 5 CFU
SALVATORE LEONARDI - Module Pediatria
MARCO FICHERA - Module Medical Genetics - MED/03 - 2 CFU
VINCENZO DI BENEDETTO - Module Pediatric Surgery - MED/20 - 1 CFU

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
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.
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
frontal teaching.

Should teaching be carried out in mixed mode or remotely, it may be necessary to introduce changes with respect to previous statements, in line with the programme planned and outlined in the syllabus
Pediatric Surgery
Lessons and video of clinical cases and surgical procedures.

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
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
  1. The utility of the next generation sequencing in genetic diagnosis
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.

Textbook Information

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

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

Open in PDF format Versione in italiano