Cristina Izzo

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Acidified glycerol lysis test (AGLT) is a screening procedure which has been developed for spherocytosis. AGLT was found positive in 100% of 48 patients suffering from hereditary spherocytosis, 100% of nine couples of affected parents, and 86% of 14 couples of clinically healthy parents. The test was positive in acquired spherocytosis and negative in normal(More)
The following aspects have been investigated in 10 patients affected by Huntington's disease )HD): --extensive haematological investigations; --red cell enzyme activities and level of the most important glycolytic intermediate compounds; --protein, lipid and carbohydrate composition of the erythrocyte membrane and membrane polarity; --effects of in vitro(More)
We report a study of HEMPAS erythrocyte membrane glycoproteins in relation to proteolytic digestion and surface labelling with galactose-oxidase/NaB[3H]4. The proteolytic digestion of band 3, the major intrinsic glycoprotein of the human erythrocyte membrane, reveals an abnormality in the outer glycosylated segment of this protein. 3H incorporation in band(More)
BACKGROUND Inactivating mutations of the calcium-sensing receptor (CaSR), of the G-protein subunit α11 (GNA11) and of the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes are responsible for familial hypocalciuric hypercalcaemia (FHH). The aim of this study was to analyse prevalence and pathogenicity of CaSR, GNA11 and AP2S1 mutations in(More)
Two new mutant Pks, electrophoretically identical but kinetically slightly different, are reported. These two clinically innocuous PK variants, encountered in two non-related subjects, have combined in their daughter to give a fully expressed haemolytic anaemia. The functional abnormalities of the daughter's PK (increased K0.5 PEP, abnormal response to FDP,(More)
A new variant of glucosephosphate isomerase (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described. The defective enzyme showed increased affinity for fructose-6-phosphate (F-6-P), decreased affinity for glucose-6-phosphate (G-6-P) altered electrophoretic and isoelectrofocusing patterns, and shift to the left of the(More)
A case of congenital nonspherocytic haemolytic anaemia associated with a new abnormal glucosephosphate isomerase (GPI), GSH (reduced glutathione) deficiency, and instability and altered carbohydrate membrane composition is reported. The only functional abnormality of the mutant enzyme seems to be a marked instability to heat, urea, and guanidine-HCl. Family(More)
BACKGROUND Patients with a rare genetic disease may receive renal transplantation (KTx) without a correct diagnosis of causal nephropathy and therefore develop unexpected and even severe complications. The aim of the study was to describe the cases of rare genetic disorders diagnosed after KTx, in order to draw clinical lessons for the transplant physician.(More)
In a recent paper, the authors oppose the opinion that “ intra-arterial administration of iodinated-based contrast media (CM) appears to pose a greater risk of contrast-induced nephropathy (CIN) than intravenous administration” . As nephrologists, we are happy to have the opportunity to offer our expertise in the setting of renal disease aimed at optimizing(More)
BACKGROUND Although many patients undergoing kidney transplant are exposed to multiple examinations that increase cumulative effective doses (CEDs) of ionizing radiation, no data are available characterizing their total longitudinal radiation burden and relating radiation burden with risk factors for more exposure. METHODS We did a retrospective cohort(More)