Pediatry, neurology and neurogenetics

A.Y. 2020/2021
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

During the emergency period the lessons will be held in compliance with the University indications on social distancing; they will be held both in presence and remotely, in a synchronous way through the Microsoft Teams platform; the didactic material will be available on the platform itself also subsequently.

The programme and reference material will not change.

The exam will take place orally according to the procedures described in the dedicated section of the teaching sheet.
According to the health emergency, the indications in the various sections may undergo some changes.
Prerequisites for admission
The prerequisites required are knowledge of human anatomy and physiology
Assessment methods and Criteria
Written exam with multiple choice questions.
The assessment is expressed in thirtieths.
Medical genetics
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
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
Neurology
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
A pantry personally drawn up and updated by the teacher with slides, lecture notes and photographic material.
General and subspecialty paediatrics
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
Slides of the lectures.
General and subspecialty paediatrics
MED/38 - PAEDIATRICS - University credits: 1
Lessons: 10 hours
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 1
Lessons: 10 hours
Professor: Ratti Antonia
Neurology
MED/26 - NEUROLOGY - University credits: 4
Lessons: 40 hours

Sezione: Don Gnocchi

According to the health emergency, the indications in the various sections may undergo some changes.
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.
Medical genetics
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
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
Neurology
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
Slides of the lectures.
Text to consult, optional: Neurologia. Principi di diagnostica e terapia, 3° edizione di Paolo Pinelli, Marco Poloni, 2003 Editore: CEA
General and subspecialty paediatrics
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
Slides of the lectures.
General and subspecialty paediatrics
MED/38 - PAEDIATRICS - University credits: 1
Lessons: 10 hours
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 1
Lessons: 10 hours
Neurology
MED/26 - NEUROLOGY - University credits: 4
Lessons: 40 hours