Gennaio 2001 - Volume XX - numero 1

Medico e Bambino


Focus

IL DESTINO NEL DNA
I geni della felicità

MARIA CLAUDIA FULCHIGNONI1,LUIGI GRECO2

1Clinica Pediatrica dell’Università di Versailles, Francia
2Clinica Pediatrica dell’Università “Federico II”, Napoli

THE GENES OF HAPPINESS

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%.

Vuoi citare questo contributo?

M.C. Fulchignoni, L. Greco IL DESTINO NEL DNA
I geni della felicità. Medico e Bambino 2001;20(1):20-29 https://www.medicoebambino.com/?id=0101_19.pdf

Focus

I geni della malattia: la cura delle malattie genetiche

LUIGI DANIELE NOTARANGELO

Clinica Pediatrica, “Ospedale dei Bambini”, Università di Brescia

THE GENES OF ILLNESS: THE TREATMENT OF GENETIC DISEASES

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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L.D. Notarangelo I geni della malattia: la cura delle malattie genetiche. Medico e Bambino 2001;20(1):24-29 https://www.medicoebambino.com/?id=0101_19.pdf

Focus

Vivere con la malttia genetica: aspetti psicosociali della beta-talassemia

CALOGERO VULLO1 E ANNUNZIATA DI PALMA2

1Libero professionista, Ferrara
2Unità Operativa di Pediatria, Azienda Ospedaliera di Trento

LIVING WITH A GENETIC DISEASE: PSYCHOSOCIAL ASPECTS OF BETA-THALASSEMIA

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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C. Vullo, A. Di Palma Vivere con la malttia genetica: aspetti psicosociali della beta-talassemia. Medico e Bambino 2001;20(1):26-29 https://www.medicoebambino.com/?id=0101_19.pdf


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