Glossary

Branch of medicine that studies genetic diseases, their diagnosis, management and prevention. It deals with pathologies caused by DNA alterations, both hereditary and de novo. Main areas: genetic counseling (reproductive risk assessment), prenatal and neonatal diagnosis, genetic testing, experimental gene therapies.

Genetic diseases include: chromosomopathies (e.g., Down syndrome), monogenic diseases (cystic fibrosis, muscular dystrophy), multifactorial diseases (predispositions to tumors, diabetes). Diagnostic technologies: karyotype, FISH, array-CGH, genetic sequencing (NGS). Genetic counseling provides information on: probability of transmission, clinical implications, reproductive options, psychological support. Predictive genetic tests allow identification of risks (e.g., BRCA mutations for tumors). Relevant ethical aspects: informed consent, genetic privacy, discrimination. Medical genetics is crucial for early diagnosis, personalized management and prevention in at-risk families.

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Systematic and comprehensive process of evaluating health conditions, functionality, autonomy and care needs of people with disabilities or frailty, particularly elderly. Conducted by multidisciplinary team (doctor, nurse, physiotherapist, social worker, psychologist) through validated scales.

Dimensions evaluated: clinical (pathologies, therapies, symptoms), functional (daily activities autonomy - ADL, IADL), cognitive (memory, orientation - MMSE, neuropsychological tests), affective (depression, anxiety - GDS), nutritional (MNA), social (family support, housing, economic resources), environmental (architectural barriers, home safety). Tools: ADL scales (Activities of Daily Living), IADL (Instrumental ADL), Barthel Index, FIM. Outcomes: frailty profile, individualized care plan (ICP), identification of necessary resources, access to services (home care, nursing homes, day centers). MDA is an essential tool for intervention appropriateness, care continuity, complication prevention. Periodic re-evaluations monitor evolution and adapt interventions.

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Chronic autoimmune disease of the central nervous system in which the immune system attacks myelin (protective sheath of nerve fibers) causing inflammation, demyelination and progressive neurodegeneration. In Italy it affects about 130,000 people, predominantly women (2:1 ratio), with typical onset between 20-40 years.

Clinical forms: relapsing-remitting (85% at onset, with attacks alternating with remissions), secondary progressive (evolution from previous form), primary progressive (15%, gradual worsening from the beginning). Variable symptoms: visual, sensory disorders (tingling, paresthesia), motor (weakness, spasticity), balance, fatigue, bladder, cognitive disorders, pain. Diagnosis: magnetic resonance, liquor examination, evoked potentials. Treatment: immunomodulating/immunosuppressive drugs to slow progression, symptom management, multidisciplinary rehabilitation. Variable prognosis: some patients maintain good functionality, others develop progressive disability. Psychological support and patient associations (AISM) fundamental for disease management.

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