This paper describes the first case of Hb Bart's hydrops fetalis syndrome in the Sardinian population. Despite the high frequency of a-thalassemia, fetal hydrops is extraordinarily rare in the ...Sardinian population because a-thalassemia is more usually the result of the single a-thalassemia globin gene deletion and is very rarely produced by the deletion of two a-globin genes. The fetus, the product of a consanguineous marriage at risk for beta-thalassemia, was monitored by chorionic villi DNA analysis which detected the heterozygous state for the codon 39 nonsense mutation. Follow-up ultrasound examination showed fetal hydrops, which led us to carry out further investigation. Hemoglobin and a-globin gene analysis on cord blood obtained by cordocentesis revealed the homozygous state for the most common deletion ao-thalassemia in Mediterranean populations. Retrospective evaluation of the father's hematological features showed very low MCH-MCV for a beta-thalassemia carrier which may indicate co-inherited a-thalassemia. These findings indicate that careful evaluation of red cell indices of parents at risk for beta-thalassemia and adequate consideration of the consanguinity may point to co-inherited a-thalassemia and lead to the appropriate analysis.
La hidratación es un proceso de consumo de agua que aporta grandes beneficios y mantiene la homeostasis hídrica de un organismo. Las fuentes de hidratación en el mundo se han diversificado en razón ...de la amplia disponibilidad de productos hídricos para el consumo humano. La calidad de los mismos es igualmente variable y van desde los que aportan solo agua hasta aquellos que contienen vitaminas, minerales, electrolitos, azúcares, edulcorantes no calóricos, colorantes, entre otros constituyentes.
This study was aimed at investigating the value of MRI in the diagnosis of multiple sclerosis. In the Multiple Sclerosis Center of our University, we sorted out of the patients submitted to CSF and ...MR examinations, only those with clinically unquestionable multiple sclerosis, white matter abnormalities at MRI and normal CSF examination. These 21 patients were submitted to CSF and MRI examinations which were repeated whenever required if image quality was technically suboptimal; a variety of screening tests for different diseases mimicking multiple sclerosis were also performed. In 4 patients with white matter abnormalities at MRI which were considered atypical for multiple sclerosis, at image rereading and after laboratory tests the diagnosis were: coagulopathy, sarcoidosis, vasculitis and CNS lymphoma. In 2 cases with questionable white matter abnormalities at MRI, the final diagnosis were borreliosis and vasculitis. The remaining 15 patients had a diagnosis of multiple sclerosis in all but 3 cases in which subsequent clinical and laboratory examinations demonstrated the presence of vasculitis, embolism from interatrial septal aneurysm and mitochondrial disease. Our study suggests that in the patients with clinical findings of multiple sclerosis and disseminated MR lesions mimicking multiple sclerosis, but no CSF abnormalities, the classical clinical criteria may not be sufficiently specific and other diagnoses must therefore be excluded before making an "unquestionable" diagnosis of multiple sclerosis.
The assay of enzyme activity in urine seems a reliable and safe method to monitor different kidney diseases. However, its use in pregnant patients might be limited by the modifications of kidney ...function during pregnancy. The aim of the present study was to evaluate the trend of excretion of the lysosomal enzyme N-acetyl-beta-D-glucosaminidase (NAG) and the brush border enzyme alanine aminopeptidase (AAP) during uncomplicated pregnancies. NAG excretion showed a significant increase (P less than 0.001) throughout pregnancy, while no significant modification of AAP levels was demonstrated. These data support the hypothesis that the two enzymes are excreted into the urine through different mechanisms and might constitute markers for different pathological events. As the increase of NAG excretion may be related to the kidney functional adaptation to pregnancy, different cut-off limits must be established in this period.
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