Subject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Fibrinolysis , Hepatic Veno-Occlusive Disease/chemically induced , Kidney Neoplasms/drug therapy , Wilms Tumor/drug therapy , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Child, Preschool , Dactinomycin/administration & dosage , Dactinomycin/adverse effects , Fatal Outcome , Hepatic Veno-Occlusive Disease/blood , Humans , Male , Vincristine/administration & dosage , Vincristine/adverse effectsABSTRACT
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. G6PD Mediterranean is caused by a C-->T transition at nucleotide 563, is characterized with less than 10% of normal enzyme activity and is classified as severe G6PD deficiency. Nineteen unrelated males from Southern Croatia with severe G6PD deficiency were tested, by enzyme digestion, for the presence of the Mediterranean mutation. Individuals with G6PD Mediterranean were further screened for the silent C-->T transition at nucleotide 1311. Four of the nineteen individuals were positive for the Mediterranean mutation (21%) and all four had the silent mutation.
Subject(s)
Glucosephosphate Dehydrogenase Deficiency/genetics , Croatia , Female , Heterozygote , Humans , Male , Point Mutation , Polymorphism, GeneticABSTRACT
An infant with congenital syphilis associated with transient disturbances of lipoprotein metabolism is reported. The dominant clinical sign was hepatosplenomegaly. Laboratory investigation upon admission revealed hyperimmunoglobulinemia and hyperchylomicronemia. After the administration of penicillin, the chylomicronemia ceased, but an increase of very low density lipoprotein fraction was observed. As the infant recovered, all the laboratory findings returned to normal. Hyperchylomicronemia was attributed to hyperimmunoglobulinemia. Absorption of immunoglobulins to lipoproteins can inhibit lipoprotein lipase activity. The increase in the very low density lipoprotein fraction was probably caused by the increase in serum lipoprotein production and the decrease in lipoprotein clearance that are frequently seen in patients with infectious diseases.
Subject(s)
Hyperlipoproteinemias/complications , Syphilis, Congenital/complications , Female , Humans , Hyperlipoproteinemias/blood , Hyperlipoproteinemias/therapy , Infant , Lipoproteins/blood , Syphilis, Congenital/diagnosis , Syphilis, Congenital/drug therapyABSTRACT
The case of an infant, aged 2 months and 23 days, with chylous ascites after nephrectomy is reported. Nephrectomy was performed because of a large hydronephrosis. Chylous ascites was treated with medium-chain triglycerides, diet and cholestyramine. After 3 days the volume of the abdomen was reduced and on day 8 chylous ascites was not visible clinically or ultrasonographically.
