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Biomedical subjects

G Napoli

Publications and source records attributed to G Napoli.

32 records · Page 2Linked to original sources
PubMed1990

A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote.

A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimum, appears to be unique, and has been designated G6PD Genova. Investigation of an obligate heterozygote using various cytochemical, biochemical and recombinant-DNA techniques showed G6PD mosaicism in the erythrocytes and leukocytes. Therefore, the presence of a disadvantageous mutation at one Gd locus did not determine selection in favor of the normal allele in the heterozygote's hemopoietic cells.

Anemia, Hemolytic, Congenital↗
PubMed1981

["Porcelain gallbladder"; a pediatric case report].

A case of "porcelain gall-bladder" observed by change in a boy of 14 is reported. After discussing the anatomopathological and aetiological aspects of the syndrome, stress is laid on its exceptional nature in paediatric age and the possibility of a correlation wtih Giardiasis is examined.

Adolescent↗
PubMedDate not supplied

[Kawasaki syndrome. Case report].

The authors relate a case of M.L.S. observed in 1980 and which had successful outcome. They report the most recent proposals about etiology, pathogenesis and therapy, comparing them with the most recent observations concerning this disease and which have been studied and are undergoing diagnostic research all over the world.

Child, Preschool↗
PubMedDate not supplied

[Holotelencephaly: description of a case].

This study describe a case of SNC malformation that belongs to the prosencephalization defects. Particularly, the degree of cerebral anomalies and the gravity of facial abnormalities place the case in the group of Holotelencephalies. We have considered the ethiopathogenetic connections that can cause such embryonic damage, the clinical characteristics, the evolution and the prognosis, by the light of the dates provided by literature. Our patient is a six month-old female put under observation since her birth.

Abnormalities, Multiple↗