Pediatry, neurology and neurogenetics

A.Y. 2019/2020
6
Max ECTS
60
Overall hours
SSD
MED/03 MED/26 MED/38
Language
Italian
Learning objectives
- To acquire knowledge of the pathophysiology and clinical aspects of the principal pediatric and neurological diseases, with special attention to those most commonly seen in children.
- Understanding the genetic basis of hereditary diseases early onset and inducing alterations neuropsicomotorie
Expected learning outcomes
The student must know special features of the medical activity in pediatric age and the most frequently observed diseases in infants and children.
Course syllabus and organization

Sezione: Bosisio Parini

Prerequisites for admission
The prerequisites required are knowledge of human anatomy and physiology
Assessment methods and Criteria
Written exam with multiple choice questions and oral exam.
The assessment is expressed in thirtieths.
Genetica medica
Course syllabus
The human genome: the normal karyotype and cytogenetics analyses;
Abnormalities in chromosome number (aneuploidy) and structure (inversions, translocations, deletions, duplications) with associated diseases
The human genome sequencing: rare variants (mutations) and genetic polymorphisms (SNPs, microsatellites) and methods for genetic analysis
Mendelian patterns of inheritance of dominant, recessive and sex-linked genetic traits; chromosome X inactivation
Mendelian inheritance of dynamic mutations and repeat sequence expansion disorders
Mendelian inheritance with parental sex influence and imprinting disorders
Multifactorial inheritance and complex diseases
Teaching methods
Lectures supported by PowerPoint presentations, made available to the students on the ARIEL website. Textbooks are merely recommended to help clarify concepts.
Teaching Resources
Diapositive delle lezioni integrate con testi a scelta non obbligatori (Slides of the lectures integrated with texts of your choice, optional):
Korf -Irons - Genetica e Genomica Umane - Edi-Ermes
Neri-Genuardi - Genetica Umana e Medica - Ed Edra
- Thompson &Thompson - Genetica in Medicina - Ed Edises
Neurologia
Course syllabus
Neurological examination
Functions of the cerebral lobes and related pathologies: aphasia, apraxia, agnosia
Cranial nerve diseases
Cerebral palsy
Craniofacial malformations
Closure defects of the neural tube
Cerebrovascular diseases
Traumatic and acquired brain injury
CNS neoplasms
Diseases of the upper and lower motor neuron
Movement disorders
Extrapyramidal diseases
Cerebellar and spino-cerebellar disorders
Demyelinating diseases
Spinal cord diseases
Diseases of the peripheral nervous system
Muscle diseases
Teaching methods
Lectures are supported by plastic material (skull, brain), video material (patients with major neurological pictures), radiological material (CT and brain MRI, three-dimensional reconstructions of malformation aspects), and pathological anatomy images. Use of clinical cases. Students have at their disposal a pantry with photographic material.
Teaching Resources
Dispensa personalmente redatta e aggiornata con diapositive, appunti delle lezioni e materiale fotografico.
A pantry personally drawn up and updated by the teacher with slides, lecture notes and photographic material.
Pediatria generale e specialistica
Course syllabus
Breastfeeding
Immunization practises
Common Infectious diseases of childhood
The newborn Infant
Infections of the Nervous System
Teaching methods
Written exam with multiple choice questions and oral exam.
The assessment is expressed in thirtieths.
Teaching Resources
G. V. ZUCCOTTI - Elementi Essenziali di Pediatria per i corsi di laurea triennali - Casa Editrice Esculapio, 2017
G. V. ZUCCOTTI - Manuale di pediatria - La Pratica Clinica. Casa Editrice Esculapio, 2016
Diapositive delle lezioni (Slides of the lectures).
Genetica medica
MED/03 - MEDICAL GENETICS - University credits: 1
Lessons: 10 hours
Professor: Ratti Antonia
Neurologia
MED/26 - NEUROLOGY - University credits: 4
Lessons: 40 hours
Pediatria generale e specialistica
MED/38 - PAEDIATRICS - University credits: 1
Lessons: 10 hours

Sezione: Don Gnocchi

Prerequisites for admission
The prerequisites required are knowledge of human anatomy and physiology
Assessment methods and Criteria
Written exam with multiple choice questions and oral exam.
The assessment is expressed in thirtieths.
Genetica medica
Course syllabus
The human genome: the normal karyotype and cytogenetics analyses;
Abnormalities in chromosome number (aneuploidy) and structure (inversions, translocations, deletions, duplications) with associated diseases
The human genome sequencing: rare variants (mutations) and genetic polymorphisms (SNPs, microsatellites) and methods for genetic analysis
Mendelian patterns of inheritance of dominant, recessive and sex-linked genetic traits; chromosome X inactivation
Mendelian inheritance of dynamic mutations and repeat sequence expansion disorders
Mendelian inheritance with parental sex influence and imprinting disorders
Multifactorial inheritance and complex diseases
Teaching methods
Lectures supported by PowerPoint presentations, made available to the students on the ARIEL website. Textbooks are merely recommended to help clarify concepts.
Teaching Resources
Diapositive delle lezioni integrate con testi a scelta non obbligatori (Slides of the lectures integrated with texts of your choice, optional):
Korf -Irons - Genetica e Genomica Umane - Edi-Ermes
Neri-Genuardi - Genetica Umana e Medica - Ed Edra
- Thompson &Thompson - Genetica in Medicina - Ed Edises
Neurologia
Course syllabus
Semeiotics
Dementia and mental retardation
Infantile cerebral palsy
Motor neuron diseases (ALS and SMA)
Extrapyramidal disorders (Parkinson's disease and chorea)
Autoimmune-inflammatory diseases of the CNS (Multiple Sclerosis) and of the PNS /Guillain-Barrè-Strohl syndrome)
Infectious diseases of the CNS
Cerebrovascular disorders including headaches
Spastic paraparesis
Ataxias
The floppy infant
Neuromuscular disorders (Duchenne & Becker Muscular Dystrophies, FSHD, Myotonic Dystrophy type 1)
Teaching methods
Lectures with the possibility of optional observational internship at the Clinical Center Neuromuscular Omnicentre (NEMO).
Teaching Resources
Diapositive delle lezioni (Slides of the lectures).
Testo da consultare, non obbligatorio (Text to consult, optional): Neurologia. Principi di diagnostica e terapia, 3° edizione di Paolo Pinelli, Marco Poloni, 2003 Editore: CEA
Pediatria generale e specialistica
Course syllabus
Breastfeeding
Immunization practises
Common Infectious diseases of childhood
The newborn Infant
Infections of the Nervous System
Teaching methods
Lectures
Teaching Resources
G. V. ZUCCOTTI - Elementi Essenziali di Pediatria per i corsi di laurea triennali - Casa Editrice Esculapio, 2017
G. V. ZUCCOTTI - Manuale di pediatria - La Pratica Clinica. Casa Editrice Esculapio, 2016
Diapositive delle lezioni (Slides of the lectures).
Genetica medica
MED/03 - MEDICAL GENETICS - University credits: 1
Lessons: 10 hours
Professor: Ratti Antonia
Neurologia
MED/26 - NEUROLOGY - University credits: 4
Lessons: 40 hours
Pediatria generale e specialistica
MED/38 - PAEDIATRICS - University credits: 1
Lessons: 10 hours