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.
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.
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
Lessons and video of clinical cases and surgical procedures.
INGUINAL AND SCROTAL DISORDERS:
INTESTINAL DISEASES:
UROLOGICAL DISEASES:
GENITALIA:
Genetica Umana e Medica (Neri, Genuardi), seconda edizione, Elsevier
Medical Genetics (Jorde, Carey, Bamshad) fifth edition, Elsevier
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