Search PubMed⌕ Search

Biomedical subjects

P Aula

Publications and source records attributed to P Aula.

At least 109 records · Page 6Linked to original sources
PubMed1981

Glial and neuronal cells in amniotic fluid of anencephalic pregnancies.

Cultured amniotic fluid cells from four anencephalic pregnancies were characterized in indirect immunofluorescence (IIF) microscopy using specific antibodies against different types of cytoskeletal intermediate filaments. Most of the cells showed a fine fibrillar cytoplasmic fluorescence with antibodies against glial fibrillary acidic protein (GFA), indicating that amniotic fluid cells in anencephalic pregnancies are of glial origin. The GFA-positive cells were rapidly adhering and proliferating. They remained as the major cell type also in long term cultures, and could easily be recovered from liquid nitrogen without losing their GFA positivity. GFA-positive cells were pleomorphic in appearance, and occurred in several morphologically different shapes. Amniotic fluid from one of the anencephalic cases contained typical neuronal cells, which in IIF were GFA-negative but could specifically be stained with anti-neurofilament antibodies. Most of the GFA-negative cells in all the cases were fibroblasts, identified by their fluorescence only with antibodies against vimentin. Epithelial cells showing positive keratin-fluorescence in IIF, were seen only occasionally.

Adult↗
PubMed1981

A deletion in chromosome 22 can cause DiGeorge syndrome.

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.

Child, Preschool↗
PubMed1981

Measurement of placental protein 5, placental lactogen and pregnancy-specific beta 1 glycoprotein in mid-trimester as a predictor of outcome of pregnancy.

The circulating levels of placental protein 5 (PP5), placental lactogen (hPL) and pregnancy-specific beta 1-glycoprotein (SP1) were measured in 254 women at the 16th week of pregnancy and the levels were correlated to fetal outcome in late pregnancy. A significant association was shown between high PP5 levels and premature delivery, and low SP1 levels and intrauterine growth retardation. Measurement of placental proteins in the first half of pregnancy may be a valuable clinical index of fetal outcome in late pregnancy.

Adult↗
PubMed1981

Cultured human amniotic fluid cells characterized with antibodies against intermediate filaments in indirect immunofluorescence microscopy.

Cells cultured from second trimester human amniotic fluid were characterized in indirect immunofluorescence (IIF) microscopy using specific antibodies against the subunit proteins of different types of cytoskeletal intermediate filaments. Most of the amniotic fluid cell cultures contained only epithelial cells as indicated by the positive keratin-fluorescence in IIF. Five distinct types of keratin-positive cells could be characterized. A dominating cell type (E-1) in most cultures were rapidly proliferating epithelial cells, previously called amniotic fluid cells (AF-cells). These cells showed a fibrillar cytoplasmic fluorescence both with keratin antibodies and with antibodies against vimentin, the fibroblast type of intermediate filament protein. E-1 cells did not show the typical cell-to-cell arrangement of keratin fibrils between the adjacent cells, a characteristic previously found in most cultured epithelial cells. Most of the cultures also contained large epitheloid cells (E-2), showing a fine fibrillar cytoplasmic organization of both keratin- and vimentin filaments, clearly different from that seen in E-1 cells. Several cultures contained two additional epithelial cells both showing the typical cell-to-cell arrangement of keratin fibrils (E-3 and E-4). These two cell types could be distinguished because of their distinct difference in size. E-4 cells typically grew as small cell islands among other epitheloid cells. Amniotic fluid cell cultures occasionally contained also large multinucleated cells (E-5), which appeared to contain large amount of fibrillar keratin. Fibroblastic cells, identified by their decoration only with antibodies against vimentin, were rarely found in amniotic fluid cell cultures. Interestingly, in such cultures some cells with a fibroblastoid appearance were identified as epithelial cells on the basis of the positive keratin-fluorescence. The results show the suitability of IIF with cytoskeletal antibodies in characterization of heterogenous cell populations and indicate that normal amniotic fluid cell cultures mostly contain epithelial cells.

Amniotic Fluid↗
PubMed1981

Prenatal diagnosis of the Meckel syndrome.

Sixteen pregnancies of 12 women with a previous child affected with the Meckel syndrome were monitored by ultrasonic scanning and amniotic fluid alpha-fetoprotein (AFP) assay. Second-trimester AFP testing in 14 pregnancies detected 1 of 2 affected fetuses, and was normal in all 12 pregnancies in which the child was normal. It is concluded that measurement of amniotic fluid AFP is helpful for Meckel syndrome only when there is an associated open neural tube defect. The importance of extremely careful ultrasonography is emphasized.

Amniotic Fluid↗
PubMed1980

Glial origin of rapidly adhering amniotic fluid cells.

Rapidly adhering cells (RA cells) from the amniotic fluid of a pregnancy with fetal anencephaly were investigated by immunofluorescence assay with an antiserum against glial cells. After 24 hours' cultivation a high proportion of the cells showed positive glial-specific fluorescence, whereas no staining was seen in cells from samples of normal amniotic fluid. At the 24th week the mother was delivered of a stillborn infant with anencephaly. Immunofluorescence staining of RA cells with glial-specific antiserum may be used for the differential diagnosis of fetal abnormalities associated with a high alpha-fetoprotein concentration in amniotic fluid.

Adult↗
PubMed1980

Variation of urinary excretion of aspartylglucosamine and associated clinical findings in aspartyglucosaminuria.

The urinary excretion of aspartylglucosamine (AADG), the main accumulating glycoprotein degradation product in aspartylglucosaminuria (AGU), was studied in 40 patients at various stages of the disease. Only slight variation was found when the amount of AADG excreted by ten AGU patients under 10 years of age was compared with AADG excretion of older patients at a clinically advanced stage of the disease. The 24h AADG excretion of the younger patients was 354 mg compared with 441 mg in the group of ten patients over 20 years of age. Clinical symptoms were unrelated to AADG excretion.

Amidohydrolases↗
PubMed1980

Cry analysis of infants with karyotype abnormality.

Sound spectrography was used to analyze 135 pain cries from 14 infants with a karyotype abnormality. At the time of the cry recording the children were from one day to seven months old, except for one child who was 2 years 10 months at the second recording. The cries were compared with 30 pain cries from 15 healthy infants of corresponding age. The children with an abnormality of chromosome 4 or 5 had cries with a significantly higher fundamental frequency than the control infants. Additionally, the cry in the "Cri-du-Chat" syndrome had a flat, monotonous melody type. The cries of infants with 13- or 18-trisomy were hoarse, low-pitched, with the shift parts absent. The cries in karyotype abnormalities were also different from pain cries of infants with other disorders involving the central nervous system. This study suggests that cry analysis can provide a valuable indication of the presence of a chromosome anomaly.

Abnormalities, Multiple↗
PubMed1980

Fetal gonadal histology in XXXXY, XYY and XXX syndromes.

During a 3-year period in which 1500 amniotic fluid samples were studied, six cases of sex chromosome abnoramlity were detected antenatally: two with XXX, three with XYY and one with XXXXY sex chromosome constitution. After careful counselling, the parents in each case chose termination of the pregnancy, which was performed at the 20th week of gestation. All fetuses appeared normal and showed no gross malformations. Histologic investigation of the gonads of the XXXXY, one XYY and one XXX fetus showed a normal overall picture. The number of spermatogonia in the seminiferous tubules of the XXXXY male fetus was markedly reduced and the testes of the XYY fetus also contained less spermatogonia than testes from control fetuses.

Abortion, Induced↗
PubMed1980

Characterization of storage material in cultured fibroblasts by specific lectin binding in lysosomal storage diseases.

The lysosomal storage material in cultured fibroblasts from patients with various lysosomal storage diseases was characterized by fluorescence microscopy using lectins specific for different saccharide moieties. In normal fibroblasts and cultured amniotic fluid cells lectins specific for mannosyl and glucosyl moieties, Con A and LcA gave a bright perinuclear cytoplasmic staining corresponding to the localization of endoplasmic reticulum in the cells. All other lectins stained the Golgi apparatus as a juxtanuclear reticular structure. In fucosidosis fibroblasts, only lectins specific for fucosyl groups LTA and UEA, distinctly stained the lysosomal inclusions. The lysosomes in mannosidosis fibroblasts did not react with Con A and LcA, both specific for mannosyl moieties of glycoconjugates, but were brightly labeled with WGA, a lectin specific for N-acetyl glucosaminyl moieties. In I-cell fibroblasts, the numerous perinuclear phase-dense granules, representing abnormal lysosomes, were labeled with every lectin used. In fibroblasts from patients with Salla disease, a newly discovered lysosomal storage disorder, the lysosomes were brightly stained only with LPA, indicating the presence of increased amounts of sialic acid residues in the lysosomal inclusions.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1980

Pregnancy-specific beta-1-glycoprotein (SP1) in cultured amniotic fluid cells.

The synthesis of pregnancy-specific beta-1-glycoprotein (SP1) was studied in amniotic fluid cell cultures using RIA, immunoperoxidase, and immunofluorescence techniques. SP1 was found by RIA in all 11 sonicates and in 21 of 26 culture media. The SP1-immunoreactive material was immunologically similar to maternal serum SP1. Immunoperoxidase and indirect immunofluorescence staining were positive in large cells identified as epithelial amniotic cells by labeling with antikeratin antibodies. Fibroblast-like cells were occasionally found in cultures, but they did not contain demonstrable amounts of SP1. The physiological significance of the findings presented remains unclear.

Amniotic Fluid↗
PubMed1980

Partial trisomy 1 (q42 leads to ter).

Clinical findings on three closely related, severely malformed infants and a 20-week-old fetus with an identical partial trisomy of chromosome 1 (1q42 leads to ter) have made possible the delineation of a new syndrome. The typical manifestations of this syndrome are: severe intrauterine and postnatal developmental retardation, trigonocephaly with wide sutures and fontanels, characteristic facial features, colobomata of the iris, small hands and feet, and early death.

Abnormalities, Multiple↗
PubMed1979

Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla disease.

Thirteen severely retarded patients with Salla disease, a new type of lysosomal storage disorder, have been studied biochemically. All patients excreted approximately ten times more free sialic acid than normal individuals. The isolated sialic acid was characterized by paper chromatography, thin-layer chromatography, optical rotation, 13C and 1H nuclear magnetic resonance spectroscopy, and mass spectrometry of its permethylated derivative. The results clearly indicated that the excreted sialic acid was identical to N-acetylneuraminic acid. The main sialylated trisaccharide present in the urine of the patients was identified as 3'-sialyllactose by sugar and methylation analysis. The excreted amounts were found to be within normal range.

Carbohydrate Metabolism, Inborn Errors↗