Publications by authors named "C Frassi"

Trace elements were measured in soil and groundwater collected within the Fornaci di Barga urban area (Serchio River Valley, Tuscany, Italy), a territory that integrates natural assets with touristic vocation, impacted by long-lasting metallurgical activity. Epidemiological studies highlighted that the area surrounding the industrial plants is characterized by a persistent excess of diseases, attributed to heavy metal pollution. Soils were taken in school gardens, public parks, sport grounds and roadsides.

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A 9-year-old prepuberal boy with trisomy 20p syndrome and previously undescribed macroorchidism is presented. This is the second report of trisomy 20p originated "de novo" supporting a frequency rate of about the 10% for this etiological mechanism. Reviewing the most common clinical findings of all 19 previous patients, a typical phenotype with a recognizable face can be carried out in several cases.

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We report a boy aged 12 years 7 months with mental retardation, hydrocephalus, dysmorphic facial features, congenital heart disease, and skeletal and renal anomalies. The karyotype showed a mosaic tetrasomy 9p involving the secondary constriction. This result was confirmed by tetraplex gene dosage effect for galactose-1-P-uridyltransferase (GALT).

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The Authors describe a rare case of Yersinia Enterocolitica (Y.E.) infection in a child affected by thalassemia.

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