Learning physiology, pathology, clinical and laboratory approach, therapy related to growing individuals, specific issues of preventive pediatrics, pediatric diseases from neonatal age through adolescence
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.
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.
Academic lessons; practice according to specific calendar scheduled by the Coordinator of Medicine Degree Course
Lessons and video of clinical cases and surgical procedures.
The healthy newborn
The newborn infant and newborn care
Low birth weight newborn
Neonatal respiratory distress syndrome
Intensive neonatal care
Pediatric primary care
Normal growth and development
Methods to evaluate growth. Bone age. Clinical evaluation of puberal maturation
Feeding: infant, toddler, child and adolescent.
Carrier state screening
Congenital adrenal hyperplasia
Fever of unknown origin
Systemic inflammatory diesases
Juvenile Idiopathic Arthritis
Systemic Lupus Erithematosus
Henoch Schönlein purpura
Inflammatory bowel diseases
Seizures and epilepsy
Normal hematology values trough childhood
Sickle Cell Disease
Iron deficiency anemia
Lymph node disorders
Leukemias and lymphomas
Tumours in children
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.
INGUINAL AND SCROTAL DISORDERS:
1) Genetica umana e medica 4 edizione 2017 di Giovanni Neri e Maurizio Genuardi Masson
2) lectures notes
Chirurgia Pediatrica - Approccio e gestione del bambino con problemi chirurgici.
Autore: G. Parigi
Holcomb and Ashcraft's Pediatric Surgery