Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Albinism, Oculocutaneous

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolism, Inborn Errors Amino Acid Metabolism, Inborn Errors Albinism Albinism, Oculocutaneous

3 articoli — 2015-2024

EL Casi indimenticabili
Empatia, empatia: la cura è anche con le parole

Giuseppin I

2024/4 — pag. 77-78 — DOI

Through the narration of the case of a girl with ocular-cutaneous type 1 albinism, the author gives an example of the importance of words and the empathy they can express in managing the most challenging professional situations. ...

EL Caso contributivo
La sindrome di Chediak-Higashi a esordio tardivo

Ciancia S, Dalla Porta MF, Cingolani GM, Cellini M, Soresina A, Badolato R, Mariotti I, Cano Garcinuno MdC, Iughetti L

2021/4 — pag. 118-123 — DOI

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the CHS1/LYST gene, encoding for LYST protein, involved in lysosomal trafficking. It is characterized by recurrent bacterial infections, oculocutaneous albin...

EL Casi indimenticabili
Quando accade l’imprevedibile

G. Maggiore, S. Nastasio

2015/1

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