ABSTRACT
UNLABELLED: We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method. CONCLUSION: Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1,717-2(A > G).
Subject(s)
Blood Proteins/genetics , Cystic Fibrosis/genetics , DNA Mutational Analysis , Genotype , Child , Cystic Fibrosis/diagnosis , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Female , Genetic Carrier Screening , Humans , Male , RomaniaABSTRACT
By a complex biochemical, immunologic, morphohistochemical and ultrastructural study, carried out on a group of 42 obese and 38 diabetic children, comparatively with 12 normal controls, the authors arrive at conclusions which prove that obesity and diabetes mellitus carry great atherogenic risk factors. Even though the intimate atherogenesis mechanism is not perfectly known, the abnormal values of insulinemia, lipidemia and cortisolemia are certainly involved in this process. In diabetes mellitus the immunologic factor is also involved. Microangiopathy in diabetes mellitus and capillary lesions in the adipose tissue of obese children may also represent atherogenic risk factors. An efficient prophylaxis in atherosclerosis must therefore begin in childhood.
