The regulation of erythropoiesis during the first three months of life was studied in 30 premature infants who had haemoglobin concentrations which were lower than in term in fants of the same postdelivery age. Erythropoietin and erythropoiesis inhibitors were measured by means of an exhypoxic polycythaemic mouse bioassay. The percentage of haemoglobin F was determined as well. An increased erythropoietin level was detected only in six infants older than six weeks, whose blood haemoglobin concentration was lower than 100 g/l, while in serum from other babies erythropoietin was undetectable by the method used. Erythropoiesis inhibitors were present in 80% of the samples tested. The results presented indicate that in premature infants erythropoiesis is regulated through erythropoietin and that inhibitors of erythropoiesis take part in this regulation as well, but that the haemoglobin level at which erythropoietin is increased is lower in preterm infants than in term babies.
X-linked adrenoleukodystrophy (XALD), the most common inherited peroxisomal disorder, is characterized by central nervous system demyelination, primary adrenal failure and the systemic accumulation of saturated very long chain fatty acids (VLCFAs). We describe a novel mutation of the ABCD1 gene in a Serbian patient with this disorder. The affected boy developed Addison's disease and neurological symptoms at 6 years of age and had a bone marrow transplant 2 years later. His plasma level of saturated VLCFAs, ratios of C24:0/C22:0 and C26:0/ C22:0, were all significantly elevated. Direct sequencing of the ABCD1 gene detected the point mutation 1519 (G>A) in exon 6, which changes a glycine at position 507 into serine (G507S). This is the first report of genetically confirmed Xadrenoleukodystrophy in Serbia.
Leiomyoma is the most common tumor viewed by echosonography of the uterus. This report presents pregnancy with calcified leiomyoma of the uterus which simulated the head of the fetus, what was verified by echosonography. Woman, nullipara, 41 years old, in week 21 of pregnancy, was referred for echosonographic evaluation. Biochemical screening for Down syndrome, performed in week 17 of pregnancy, was positive. Fetal karyotype, obtained by amniocentesis, was normal (46 XX). In the case presented herein, diameter of leiomyoma was 48 mm, being equal to the diameter of the fetal head in 21st week of pregnancy. Due to calcifications on the surface of leiomyoma which were viewed on echosonography in the form of hyperechogenic border, this tumor looked like a head of the fetus. This echosonographic finding of two fetal heads in a single pregnancy was remarkable even for a gynecologist experienced in echosonographic examination.
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