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Biomedical subjects

M G Blitzer

Publications and source records attributed to M G Blitzer.

35 records · Page 2Linked to original sources
PubMed1989

Antenatal detection of cystic hygroma.

Ultrasonographic evaluation, as a routine component of prenatal care, has significantly contributed to in utero assessment of pregnancy status. The detection of fetal abnormalities by ultrasound, however, has raised clinical questions and created parental dilemmas concerning the outcomes of such pregnancies. A relatively frequent anomaly observed on routine ultrasonographic examination is the posterior nuchal cystic hygroma. We report the prenatal detection of 16 cases of cystic hygromata and an analysis of a survey of the world's literature including an additional 155 cases. The information available from these 171 cases allows a clearer picture of the prognosis for fetuses in whom posterior cystic hygroma is detected in utero. Regarding outcome, 73.2 per cent of cases were terminated at the parents' request; 37 cases (22.6 per cent) resulted in fetal death in utero prior to any intervention. Only 7 per cent of continuing pregnancies resulted in live-born infants. Of the 142 cases with available cytogenetic findings, 22 per cent had normal karyotypes; 58 per cent had a karyotype associated with Turner syndrome phenotype; while autosomal trisomies and various structural abnormalities made up the remaining 20 per cent. Even among those fetuses with normal chromosomes, various physical anomalies were detected. Fetal hydrops was present in 66 per cent of the 102 cases with pertinent information. For those fetuses demonstrating cystic hygroma and normal karyotypes, Mendelian syndromes must be considered in the differential diagnosis. Alpha-fetoprotein evaluation of both maternal serum and amniotic fluid was not helpful in determining prognosis of these fetuses. The ultrasonographic finding of a posterior nuchal cystic hygroma, with or without accompanying fetal hydrops, is a valid indicator for a poor outcome of such pregnancies.

Adult↗
PubMed1986

Maroteaux-Lamy syndrome in a large consanguineous kindred: biochemical and immunological studies.

We describe a large consanguineous German-Acadian ("Cajun") family from a rural area in Louisiana in which 11 persons in two generations had the Maroteaux-Lamy syndrome. The mutant arylsulfatase B enzyme in this family was similar to the mutant enzyme in previously studied families in its cross-reactivity with specific antibodies to the enzyme, but it differed in both its electrophoretic mobility and its residual enzymatic activity. These findings indicate that a different mutational event leading to Maroteaux-Lamy syndrome occurred in this family.

Child↗
PubMed1985

Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.

A simple, oral phenylalanine loading test was developed in order to discriminate between controls, phenylketonuria and persistent hyperphenylalaninemia patients. Only three capillary blood specimens for quantitation of phenylalanine and tyrosine over a short duration (90 min) were required. Using stepwise multivariate discriminant analysis, accurate classification was achieved for 27 controls, 12 patients with phenylketonuria and 6 with persistent hyperphenylalaninemia. This loading test and analysis is both simpler and less expensive than those previously described.

Amino Acid Metabolism, Inborn Errors↗
PubMed1985

A thermolabile variant of alpha-L-fucosidase--clinical and laboratory findings.

A family with two sibs affected clinically with the severe infantile form of fucosidosis is described. Biochemical studies revealed a relatively high residual activity (34-60% of normal) with markedly decreased thermostability. The importance of including thin layer chromatography for urinary oligosaccharides in the diagnostic workup for such patients is emphasized.

Chromatography, Thin Layer↗
PubMed1985

The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics.

We report on a 2-yr-old boy with progressive muscular weakness and respiratory failure. There was no clinical evidence of heart muscle involvement. Autopsy showed marked intralysosomal glycogen deposition in skeletal muscle and liver with no histological evidence of glycogen deposition in cardiac muscle. The activity of the lysosomal enzyme alpha-1,4-glucosidase was deficient in skin fibroblasts, skeletal muscle, cardiac muscle, and liver; however, the enzymatic activity in peripheral blood leukocytes was in the low normal range. The child's mother had normal enzymatic activity in leukocytes but heterozygote levels in skin fibroblasts.

Child, Preschool↗
PubMed1985

Marinesco-Sjögren syndrome: evidence for a lysosomal storage disorder.

The inherited abnormality of the Marinesco-Sjögren syndrome is not known. We studied four patients from two different families and ethnic groups. Electron microscopic studies revealed numerous, abnormally enlarged lysosomes that contained whorled lamellar or amorphous inclusion bodies. Enzyme studies excluded previously described lysosomal storage disorders.

Cataract↗
PubMed1984

A purified serum glycopeptide from controls and cystic fibrosis patients. III. The association of the ciliary dyskinetic activity with the oligosaccharide component.

We have previously described the purification and partial characterization of a serum glycopeptide with mucociliary activity from cystic fibrosis patients and a normal counterpart from sera of controls (3, 4). After removal of its oligosaccharide component by beta-elimination, the peptide portion of the glycopeptide from cystic fibrosis patients did not reveal any mucociliary activity on rabbit tracheal explants. This mucociliary activity was shown to be inhibited by mannose, glucose, and N-acetyl-galactosamine as well as by the glycopeptide purified from controls. It was not affected by xylose, fucose, galactose, or N-acetyl-glucosamine.

Animals↗
PubMed1982

A purified serum glycopeptide from controls and cystic fibrosis patients. I. Comparison of their mucociliary activity on rabbit tracheal explants.

A glycopeptide with a molecular weight of approximately 5000 was purified from sera of controls and cystic fibrosis patients. Both the cystic fibrosis and control glycoproteins revealed the absence of aromatic amino acids. The effect of the purified glycopeptide on rabbit tracheal explants was examined in a double-blind fashion. The purified fraction from cystic fibrosis patients caused marked ciliary dyskinetic activity and profound mucus secretion. The equivalent fraction from controls, even in a 50-fold higher concentrations, showed no apparent biological activity on rabbit tracheal explants.

Adolescent↗
PubMed1982

A purified serum glycopeptide from controls and cystic fibrosis patients. II. Comparison of their immunologic properties using monoclonal antibodies.

The immunogenic and antigenic properties of the cystic fibrosis glycopeptide and its normal counterpart were compared. BALB/c mice were immunized with either the cystic fibrosis glycopeptide or its normal counterpart and their spleen cells fused with X63NS1/1-Ag-4 (NS1) mouse myeloma cells. Four hybridization experiments (two with each glycopeptide) were performed in which different plating methods and screening assays were evaluated. Although an identical immunization procedure was used, 51 hybridoma cultures producing specific antibodies to the control glycopeptide and only 11 producing antibodies to the cystic fibrosis glycopeptide were obtained. Many of the monoclonal antibody preparations showed specificity toward the carbohydrate moiety of the glycopeptides and crossreacted immunologically with various glycoprotein preparations, whereas some were specific to the glycopeptides. The antibodies from the cloned hybridomas specific to the glycopeptide were used to compare serum fractions from controls and cystic fibrosis patients (10 samples in each group). Indistinguishable immunologic reactivity (antigenicity) between the controls and cystic fibrosis patients was demonstrated with the various monoclonal antibodies so far evaluated.

Adolescent↗
PubMedDate not supplied

Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta.

Using a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14 1/2 weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14-16 weeks gestation had PPi values ranging from 22.0-59.2 micrograms/100 ml, with a mean of 38.6 +/- 9.51 micrograms/100 ml. In each at-risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of OI.

Amniocentesis↗
PubMedDate not supplied

Detection of cocaine and its metabolites in human amniotic fluid.

The dramatic rise in maternal drug abuse and the incidence of positive drug findings during neonatal testing has increased the need for prenatal toxicological testing for drugs of abuse. Human amniotic fluid samples collected after 13-39 weeks of pregnancy were screened for cocaine metabolite (benzoylecgonine) by fluorescence polarization immunoassay (FPIA). All positive samples, as well as any accompanying maternal serum, were confirmed by gas chromatography/mass spectrometry (GC/MS) for cocaine and its metabolites. Five samples out of 450 were positive for cocaine, benzoylecgonine, and ecgonine methyl ester by GC/MS. In addition, one sample was also positive for cocaethylene. Two maternal serum samples were positive for benzoylecgonine and ecgonine methyl ester. The presence of cocaine, benzoylecgonine, ecgonine methyl ester, and cocaethylene in the amniotic fluid suggests that the fetus is exposed to cocaine and its metabolites through maternal circulation. The impact of this exposure on the health of the newborn is unknown.

Amniotic Fluid↗