The usual methods for prenatal diagnosis of beta-thalassemia and other hemoglobinopathies by assay of fetal blood erythrocytes are either complex (analysis of globin chains synthesis by carboxymethylcellulose chromatography) or only semiquantitative [isoelectric focusing of hemoglobin (Hb)]. To further simplify the diagnostic procedure and to obtain quantitative data, we measured the small conc...

Cystic hygroma (CH) is a lymphatic malformation occurring different parts of fetal body, typically in the region of the fetal neck and axillary, abdominal wall, mediastinal, inguinal and retroperitoneal areas. CH has been associated with fetal aneuploidy, hydrops fetalis, structural malformations and intrauterine fetal death.A 24-year-old gravida 1, para 1 was admitted to our hospital at 28 wee...

Normal human placental metabolism has been studied in vivo by image localised 31P magnetic resonance spectroscopy in 13 women with anterior placentas; five, however, were too fat for useful spectral signals to be obtained. Magnetic resonance spectra of good quality which were considered to have arisen from the placenta were obtained from seven women with uncomplicated pregnancies (median gestat...

Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX) in one fetus in a twin pr...

Protein S100 is a low molecular weight (10-12 kD) calcium-binding protein the beta subunit of which is coded for at the 22.2-22.3 region of the long arm of chromosome 21. This region has also been shown to be responsible for the phenotypic expression of Down syndrome. Previous studies demonstrated increased immunoreactivity to protein S100 in brain tissue from adults with Down syndrome. We have...

BACKGROUND/AIM Intrauterine growth retardation (IUGR) is a pathological condition of pregnancy characterised by birth weight below the 10th centile. A number of fetal, placental and maternal causes can lead to IUGR; although, in most cases no specific causes can be identified. The aim of this study was to determine the part of chromosomal abnormalities in IUGR etiology. METHODS Fetal blood ka...

CASE REPORT A 57-year-old paraplegic male diagnosed with non-Hodgkin's lymphoma and complete spinal cord compression arrived at our clinic because of fever and purple discoloration of the urine. We diagnosed purple urine bag syndrome (PUBS) and treated him with oral ciprofloxacin and urinary catheter replacement. DISCUSSION PUBS is an unusual phenomenon that occurs predominantly in bedridden ...

Purple urine bag syndrome (PUBS) is an infrequent condition, seen mostly in elderly female patients, characterized by an intense purple discoloration of contents of urine bag following long-term indwelling urinary catheterization. The purple discoloration is most often due to the presence of indigo and indirubin pigments which are metabolites of tryptophan. Urinary bacteria with indoxyl sulphat...

Complex models can only be realized a limited number of times due to large computational requirements. Methods exist for generating input parameters for model realizations including Monte Carlo simulation (MCS) and Latin hypercube sampling (LHS). Recent algorithms such as maximinLHS seek to maximize the minimum distance between model inputs in the multivariate space. A novel extension of Latin ...