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Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

Open Journal of Internal Medicine 2016年第1期6卷 20-25页

作者： Giuseppina Calvaruso Maria Concetta Renda Disma Renda Emanuela Fecarotta angela piazza Antonino Giangreco Aurelio Maggio UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici AOR Villa Sofia-Cervello Palermo Italy

Hereditary aceruloplasminemia is a rare disease characterized by iron overload and neurodegeneration. Aceruloplasminemia is due to the absence/deficiency of ceruloplasmin, responsible for iron overload in liver, pancreas and other organs. We report the case of an Italian patient with hyperferritinemia, diabetes and hepatic iron excess, suspected to be affected by aceruloplasminemia. Patient underwent brain magnetic resonance imaging with and without paramagnetic medium contrast, which showed a hypointesity due to iron storage. The presence of a neurological disease and iron storage in the brain has led to assume the suspect of the aceruloplasminemia disease. We confirmed this hypothesis by the identification of a new nonsense mutation in exon 12 ceruloplasmin gene at codon 748, in homozygous status. When the diagnosis of ACP was established, the patient started chelation therapy with 75 mg/Kg/day deferiprone (DFP). Two months of starting therapy with DFP, serum ferritin values decreased to 693 ng/ml;the patient well tolerated the drug, and there have been no adverse events. Although rare, aceruloplasminemia should be considered in the differential diagnosis of unexplained iron overload.

关键词： Aceruloplasminemia Brain Copper Diabetes Ferritin

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Dverview and Main Advances in Permutation Tests for Linear Regression Models

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Journal of Mathematics and System Science 2015年第2期5卷 53-59页

作者： Massimiliano Giacalone angela Alibrandi School of Economics Management and Statistics Bologna University Piazza Scaravilli 2 Bologna Italy. Department of Economical Business and Environmental Sciences and Quantitative Methods Messina University Via dei Verdi 75Messina ltaly.

When the population, from which the samples are extracted, is not normally distributed, or if the sample size is particularly reduced, become preferable the use of not parametric statistic test. An alternative to the normal model is the permutation or randomization model. The permutation model is nonparametric because no formal assumptions are made about the population parameters of the reference distribution, i.e., the distribution to which an obtained result is compared to determine its probability when the null hypothesis is true. Typically the reference distribution is a sampling distribution for parametric tests and a permutation distribution for many nonparametric tests. Within the regression models, it is possible to use the permutation tests, considering their ownerships of optimality, especially in the multivariate context and the normal distribution of the response variables is not guaranteed. In the literature there are numerous permutation tests applicable to the estimation of the regression models. The purpose of this study is to examine different kinds of permutation tests applied to linear models, focused our attention on the specific test statistic on which they are based. In this paper we focused our attention on permutation test of the independent variables, proposed by Oja, and other methods to effect the inference in non parametric way, in a regression model. Moreover, we show the recent advances in this context and try to compare them.

关键词： Permutation Tests Linear Regression Models Non Parametric Approach.

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