Gennaio 2001 - Volume XX - numero 1
Focus
1Clinica Pediatrica dell’Università di Versailles, Francia
2Clinica Pediatrica dell’Università “Federico II”, Napoli
Key words: Twins, Behavioural Genetics, Serotonin, Dopamine
The genes of happiness are the best candidates for coding dopamine receptors, whereas the genes of sadness are the best candidates for coding serotonin metabolism and re-uptake. In fact, several studies on separately grown homozygous twins demonstrate, in a very convincing manner, the existence of a genetic substratum for character features such as feeling of well-being, extroversion, nervosity, friendliness, curiosity, readiness to live new experiences. All these features depend on genetics for at least 50%.
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Focus
Clinica Pediatrica, “Ospedale dei Bambini”, Università di Brescia
Key words: Gene Therapy, Metabolic Disease, Reference Centres
The treatment of genetic diseases is not fruit of the imagination, although too many hasty statements, such as those on gene therapy, created a deep disappointment. Effective medical actions include marrow grafting, replacement treatments (enzymes, immunoglobulins, red blood cells), coenzyme-based treatments (large doses of vitamins) or dietetic control (phenylalanine, proteins). However, the results in terms of quality of life improvement are lower than stated. Social and life rehabilitation is the ultimate goal, but it is often achieved only partially. Aspects such as rarity, peculiarity, diagnostic difficulty for each single disease, as well as the personal and social implications of the problem as a whole, require a limited number of networked reference centres with high potentials to be identified and strengthened.
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Focus
1Libero professionista, Ferrara
2Unità Operativa di Pediatria, Azienda Ospedaliera di Trento
Key words: Thalassemia, Chronic Disease, Psychosocial Adaptation
The impact of genetic diseases on the quality of life is not always devastating. In the case of thalassemia, despite of monthly dependence on transfusion and daily dependence on deferoxamine and other medical treatments, which are often indispensable, the results in terms of self-confidence, appreciation for one’s physical aspect, family relationships, trust in the future, sexual life, decision-making capacity turned out to be comparable or even better than those recorded for controls.
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