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1.
Quad Sclavo Diagn ; 22(2): 193-200, 1986 Jun.
Article in Italian | MEDLINE | ID: mdl-3823368

ABSTRACT

Among 56 patients with elevated thromboembolic risk, subject to intravenous infusion of heparin, we have determined the relation between hematic concentration of heparin and activated partial thromboplastin time (APTT), surveyed by two reagents with different sensitivity. The obtained results shown a very good correspondence without significant differences between the APTT reagents used, especially inside the therapeutic range. Otherwise a good correlation is demonstrated between methods, relative to two different chromogenic substrates, applied to heparin determination.


Subject(s)
Blood Coagulation Tests , Heparin/blood , Partial Thromboplastin Time , Thromboembolism/blood , Aged , Female , Humans , Male , Middle Aged
2.
Pediatr Med Chir ; 6(6): 843-52, 1984.
Article in Italian | MEDLINE | ID: mdl-6545600

ABSTRACT

We described the case of an adult male patient, seriously mentally deficient, hospitalised in Psychiatric Hospital for a period of many years, suffering from a familial hypobetalipoproteinemia with extremely low levels of plasmatic betalipoproteins. The patient has been followed and tested several times over a period of six years. Numerous members of his family, which is part of a restricted ethnic nucleus in a locality (Iolo) of the Comune of Prato in the Provincia of Florence, were examined and tested too. Consanguinity between his parents is not demonstrable. The diagnosis of homozygous hypobetalipoproteinemia is discarded, but it does not seem that the heterozygous one is to be accepted as weel. On the ground of the existence of two syndromes which are quite unlike each other, but both explainable as form of familial heterozygous hypobetalipoproteinemia, one of them present in his father, the other one in his mother and in the maternal relatives as in the patient's brother respectively, a hypothesis of a double heterozygosis could be formulated. Extant is the support of the recent literature data, depending on them the possibility of making the hypothesis of a multiplicity of the genes regulating the apolipoprotein B synthesis. We do not exclude that the peculiarity of the event of a double heterozygosis can also be directly responsible of the patient's serious mental deficiency, being at the same time more supportable the hypothesis of a encephalopathy in his early childhood.


Subject(s)
Heterozygote , Hypobetalipoproteinemias/genetics , Hypolipoproteinemias/genetics , Intellectual Disability/complications , Adult , Humans , Hypobetalipoproteinemias/blood , Hypobetalipoproteinemias/complications , Hypobetalipoproteinemias/diagnosis , Italy , Male , Pedigree
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