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A Iavarone

Publications and source records attributed to A Iavarone.

16 recordsLinked to original sources
PubMed1992

Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma.

Multifocal osteogenic sarcoma patients without familial histories of increased tumor predisposition were examined for mutations in the highly conserved regions of the p53 gene. p53 point mutations were found in tumor DNA from each of the four patients we examined. A germ-line p53 mutation was detected in one of these patients, and a further rearrangement of the residual wild-type allele was detected in tumor tissue. p53 germ-line mutations can contribute to the enhanced predisposition to tumor development manifest in patients with multifocal osteosarcoma.

Base Sequence↗
PubMed1992

[Niemann-Pick disease type C in monozygotic twins].

The Authors describe two monochorionic twins affected by Niemann-Pick disease type C with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and spasticity started at 30 months. The importance of cultured skin fibroblasts is emphasized. The evidence of a defective intracellular cholesterol esterification is established as an intrinsic feature of Niemann-Pick disease type C.

Cells, Cultured↗
PubMed1992

Reference values for immunoglobulin kappa and lambda light chains and the kappa/lambda ratio in children's serum.

We analyzed 708 serum samples from healthy children and adolescents by immunonephelometry to obtain reference values for the immunoglobulin kappa (kappa) and lambda (lambda) light chains and for their ratio at a time of life when immunoglobulin synthesis is maturing and continually being stimulated. The lambda chain concentration that is to be maintained throughout the child's life is reached very early, just after 1 year, whereas the concentration of the kappa chains, which increases gradually, reflects the concentration of the immunoglobulins as a whole. These reference values may be useful for studying kappa and lambda chains in illnesses involving the immune system in children.

Adolescent↗
PubMed1988

A retrospective study of Creutzfeldt-Jakob disease in Italy (1972-1986).

In a retrospective study of Creutzfeldt-Jakob disease (CJD) in Italy from 1972 to 1986, we found 79 cases which fulfilled the diagnostic criteria for CJD. The annual mortality rate was 0.09 cases per million inhabitants. In this series the female to male ratio was 2.59, a value significantly higher than that found in Italian population (1.05). The mean age at death was 62.1 +/- 9.4 years and the mean duration of the disease was 5.3 +/- 3.0 months. No familial cases of CJD were found in our series. Mental deterioration was present in all of our cases, myoclonus in 85% and the other clinical signs were present at a lower rate. Periodic EEG activity was found in 92% of the cases. Two patients had had neurological or ophthalmic surgery and 17% of our cases had undergone general surgery within 5 years prior to the clinical onset of CJD.

Adult↗
PubMed1988

Transient hyperphosphatasemia of infancy. Fifteen new cases.

Alkaline phosphatase was assayed as part of the routine examinations performed in all children hospitalized for the first time in our ward. Fifteen children had transient hyperphosphatasemia of infancy (THI). Their clinical features suggested the presence of an infectious agent.

Alkaline Phosphatase↗
PubMedDate not supplied

Biology of metaiodobenzylguanidine interactions with human neuroblastoma cells.

[131I]Metaiodobenzylguanidine (131I-MIBG) is selectively taken up and stored by tumors derived from the neural crest and is utilized in the diagnosis and treatment of neuroblastoma (NB). Variable MIBG uptake has been observed, although the underlying mechanisms are not known. We have studied the uptake kinetics of 125I-MIBG and uptake characteristics of NB cell clones with different phenotypes (SH-SY5Y and SH-EP1, the neuroblastic and the substrate-adherent sublines of SK-N-SH respectively, BE(2)-M17 and LA-N-1n with neuroblastic phenotype). We have been able to correlate the MIBG uptake with the neuroblastic phenotype: a specific uptake system satisfying all the characteristics of the neuronal uptake-1 (temperature dependency, sodium dependency, high affinity, saturability and imipramine sensitivity) was observed in all the neuroblastic sublines. In contrast, MIBG accumulation was a passive diffusion phenomenon in the substrate-adherent clone SH-EP1. In addition, terminal neuronal differentiation induced in SH-SY5Y by retinoic acid caused a marked increase of the uptake and retention of MIBG. Our findings may be pertinent to an understanding of the variability of the MIBG uptake in vivo.

3-Iodobenzylguanidine↗
PubMedDate not supplied

[131I]metaiodobenzylguanidine in neuroblastoma patients at diagnosis.

Treatment of resistant neuroblastoma with high dosage [131I]metaiodobenzylguanidine (131I-MIBG) appears effective since encouraging results have been obtained so far even in patients with very advanced, intensively pre-treated disease. We have already reported a stage III NB patient treated at diagnosis, who is at present in complete remission with a 4-year follow-up. To further explore the potential role of this new drug in untreated patients, we administered radionuclide to two children with stage III neuroblastoma. Both cases received 131I-MIBG at relatively low doses, and showed a significant reduction of the tumor mass and, interestingly enough, no evidence of 131I-MIBG uptake of a tracer dose in the remaining tumor. Particularly in case 1, the permanence and subsequent progression of the part of the tumor mass without 131I-MIBG uptake, after therapeutic doses of 131I-MIBG which apparently destroyed the 131I-MIBG-positive cell population, clearly suggest heterogeneity at diagnosis, with a dual neuroblastoma cell population, one with 131I-MIBG uptake and the other without. Aside from the biological implications of the heterogeneous MIBG uptake in neuroblastoma at diagnosis, our findings suggest that in stage III neuroblastoma patients even a relatively small dose of 131I-MIBG administered at diagnosis is sufficient to either completely destroy the primary tumor, as reported by our group, or to destroy that part of the tumor which shows 131I-MIBG uptake (as in the present cases), without any significant hematologic toxicity. Furthermore, a single course of 131I-MIBG at the dosage employed here does not appear to jeopardize the subsequent use of chemotherapy.(ABSTRACT TRUNCATED AT 250 WORDS)

3-Iodobenzylguanidine↗
PubMedDate not supplied

Prenatal diagnosis of heterozygosis in a pregnancy at risk for Wolman's disease at the 8th week of gestation.

Wolman's disease is a rare autosomal recessive disease due to lysosomal acid lipase complete deficiency (McKusick 27.800). Prenatal diagnosis is based on safe chorionic villus sampling procedures. We test acid lipase activity in cultured chorionic villus cells, selected from a biopsy performed during the 8th week of pregnancy. We now report the first prenatal diagnosis of heterozygosity for Wolman's disease during the first trimester of pregnancy. Reduced acid lipase activity was shown in the chorionic villi cells using a natural substrate (Cholesterol 14C oleate). The diagnosis was confirmed by the demonstration of reduced acid lipase activity in cultured amniotic cells and in the newborn lymphocytes. Early prenatal diagnosis in pregnancies at risk for lysosomal storage diseases is possible when enzyme activity levels in chorionic villi are similar to those in cultured amniotic cells and in infant cells.

Chorionic Villi↗
PubMedDate not supplied

A case of acid lipase deficiency: Wolman's disease.

We report a case of Wolman disease, an unusual autosomal recessive disease characterized by storage of lipid in histiocytes. Storage of cholesteryl esters and triglycerides is caused by lysosomal acid lipase deficiency. This enzyme hydrolyses the cholesteryl esters of LDL thus allowing their peripherical metabolism. Onset of the disease occurs after the first month of life with hepatosplenomegaly, diarrhea, vomiting, abdominal distension, failure to thrive. Diagnosis, suspected because of calcifications of the adrenals was achieved by demonstration of lysosomal acid lipase deficiency in lymphocytes and cultured skin fibroblasts. Carriers of the disease can be identified by enzyme assays in lymphocytes and fibroblasts and prenatal diagnosis can be accomplished by lysosomal acid lipase assays in cultured amniotic fluid cells and chorionic villi.

Adrenal Gland Diseases↗