General paediatrics deals with the overall health (e.g., physical, mental and social health) and with the study of prevention of diseases during childhood, i.e., during the developmental age; with developmental age we mean the period between the prenatal age (i.e., the three phases preceding birth) and the end of the natural process of physical growth and cognitive maturation (which, according to the European standards ends up at age 18 years and by the USA standards ends up at about age 20-22 years.
Specifically, this teaching deals with:
(a) Physiology and development of the neonate (including topics dealing with neonatal pathology), the child and the adolescent;
(b) Prevention paediatrics, i.e., all medical acts and activities aimed to reduce mortality secondary to given diseases and morbidity (i.e., the frequency of given diseases) in children;
(c) Specialty paediatrics, i.e. all acute and chronic diseases affecting various organs during the developmental age: cardiology, respiratory medicine, gastroenterology, neurology, haematology, oncology, endocrinology, rheumatology, infectious diseases, and dermatology;
(d) Social paediatrics, i.e., health problems catering from the overall childhood community (prevention ans community medicine)
The course aims to provide the bases and fundaments of: (a) anatomy and physiology during development; (b) prevention and social medicine during development; (c) health education and understanding of diseases during childhood and adolescence and of the main acute and chronic conditions physically or mentally disabling children or interfering with their learning processes.
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 are mainly performed with slides showing drawings, figures and images. Students are encouraged to take active part during the lessons.
Student can request to train in the clinical unit; these practical laboratories are based at the AOU "Policlinico-Vittorio Emanuele" - via s. Sofia, 78 (Policlinico)
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:
Marcdante K, Kliegman Robert. M.. Nelson Essentials of Pediatrics. Elsevier 2018
Lissauer T, Clayden G. Illustrated Textbook of Paediatrics, 5th ed. Edinburgh: Mosby, 2016
1) Genetica umana e medica 31 dic. 2010 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