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E Rappaport

Publications and source records attributed to E Rappaport.

54 records · Page 3Linked to original sources
PubMed1987

Thalassemia syndromes. Recent advances.

Laboratory and clinical investigators in the past several years have provided many advancements in the understanding of the thalassemia syndromes and in the care of affected patients. The diversity of genetic defects causing thalassemia has been extensively explored, with major benefits to our knowledge of normal globin gene function and of the consequences of specific mutations. In addition, the use of molecular biology methods in these studies has provided major advances in population genetics, gene transfer, and prenatal diagnosis of thalassemia. In the clinical area, guidelines for transfusion, splenectomy, prevention of postsplenectomy infection, and effective iron chelation have been considerably improved, and bone marrow transplantation is now available as an alternative means of treatment. Despite these advances, a great deal remains to be done in the areas of understanding the developmental regulation of globin gene expression, effective gene transfer, oral chelation therapy, safer blood products, and other important areas that will benefit patients afflicted with thalassemia.

Bone Marrow Transplantation↗
PubMed1987

Childhood leukemia and parents' occupational and home exposures.

A case-control study of children of ages 10 years and under in Los Angeles County was conducted to investigate the causes of leukemia. The mothers and fathers of acute leukemia cases and their individually matched controls were interviewed regarding specific occupational and home exposures as well as other potential risk factors associated with leukemia. Analysis of the information from the 123 matched pairs showed an increased risk of leukemia for children whose fathers had occupational exposure after the birth of the child to chlorinated solvents [odds ratio (OR) = 3.5, P = .01], spray paint (OR = 2.0, P = .02), dyes or pigments (OR = 4.5, P = .03), methyl ethyl ketone (CAS: 78-93-3; OR = 3.0, P = .05), and cutting oil (OR = 1.7, P = .05) or whose fathers were exposed during the mother's pregnancy with the child to spray paint (OR = 2.2, P = .03). For all of these, the risk associated with frequent use was greater than for infrequent use. There was an increased risk of leukemia for the child if the father worked in industries manufacturing transportation equipment (mostly aircraft) (OR = 2.5, P = .03) or machinery (OR = 3.0, P = .02). An increased risk was found for children whose parents used pesticides in the home (OR = 3.8, P = .004) or garden (OR = 6.5, P = .007) or who burned incense in the home (OR = 2.7, P = .007). The risk was greater for frequent use. Risk of leukemia was related to mothers' employment in personal service industries (OR = 2.7, P = .04) but not to specified occupational exposures. Risk related to fathers' exposure to chlorinated solvents, employment in the transportation equipment-manufacturing industry, and parents' exposure to household or garden pesticides and incense remains statistically significant after adjusting for the other significant findings.

Acute Disease↗
PubMed1986

Hypertriglyceridemia and lipid inclusions in a case of Philadelphia chromosome-positive, acute nonlymphocytic leukemia.

We report a case of a 71-year-old female patient with an unusual morphological variant of Philadelphia chromosome-positive, acute nonlymphocytic leukemia. The myeloblasts exhibited an extreme degree of lipid vacuolization and the serum exhibited hyperlipidemia. The initial serum triglyceride level was 756 mg/dL. There were 26,000 white blood cells per cubic millimeter with 19% myeloblasts. The bone marrow contained greater than 80% myeloblasts that were myeloperoxidase- and chloracetate esterase-positive and typed positive for OKM1 and Leu 1 myeloid cellular markers. At remission, the lipid inclusions disappeared and the serum triglyceride levels returned to normal. Both abnormalities recurred at relapse. The cause of the hyperlipidemia and lipid inclusions was most likely an acquired hyperlipoproteinemia and secondary absorption of lipids into the malignant cells.

Acute Disease↗
PubMed1982

Altered erythrocyte Na+ + K+ pump in adolescent obesity.

The number of Na/K pump units and the cation transport activity of the pump were measured in erythrocytes from two etiologically different groups of obese adolescents and a group of normal controls. There was a significant reduction in the number of pump units, as measured by saturation ouabain binding, in erythrocytes from adolescents with idiopathic, early onset obesity. Individuals whose obesity developed subsequent to the appearance of a variety of hypothalamic lesions showed no reduction in the red cell complement of Na/K pump when compared to controls and the cation transport activity of their cells was higher than both the controls and the subjects with idiopathic obesity. These results support data obtained in adults that reduced red cell Na/K pump levels are seen in a group of individuals with idiopathic obesity. They further suggest that such reductions are not likely to be secondary to the obese state per se.

Adolescent↗
PubMed1982

The gamma-delta-beta-globin gene region in G gamma-beta +-hereditary persistence of fetal hemoglobin.

We report restriction endonuclease analysis of the gamma-delta-beta-globin gene region in a mother and child heterozygous for G gamma-beta +-hereditary persistence of fetal hemoglobin (HPFH). The affected chromosome in these persons directs the production of G gamma-chains and beta-chains but not A gamma-chains. DNA was digested with several restriction enzymes and was examined for gamma, delta, beta sequences by blot hybridization. Only normal digestion fragments were present. By sensitive methods, we were unable to detect a deletion in the entire gamma-delta-beta-globin gene region of the affected chromosome, indicating that in this family, G gamma-beta +-HPFH is not due to a large deletion.

Adult↗
PubMed1980

Linkage of alpha G-Philadelphia to alpha-thalassemia in African-Americans .

We have studied the inheritance of the alpha-chain hemoglobin variant Hb G-Philadelphia (alpha 2(68 Asn leads to Lys)Beta 2) in two African-American families. Expression of the alpha-globin loci was monitored by the percentage of Hb G in these individuals. The variant represented approximately 33% of the total adult hemoglobin in some and 50% in others. alpha-Globin gene fragments were analyzed by using restricton endonucleases that cleave outside (EcoRI), within (HindIII), and between (Bgl II) the normal duplicated alpha-globin loci (alpha alpha/alpha alpha). Individuals having 33% variant lack one functioning alpha gene (alpha G/alpha alpha); those with 50% variant lack two genes, one missing on each chromosome (alpha G/alpha). Inheritance of alpha G was therefore linked to that of a chromosome with only one functional alpha-globin gene locus. This locus is probably the result of a nonhomologous crossover. Our results also suggest equal expression of the alpha-globin loci in humans because the percentages of the variant could be explained solely on the basis of the total number of alpha genes present. The percentages of Hb G as well as other hematologic data all were consistent with the number of alpha-globin genes identified by restriction endonuclease mapping. Gene mapping yields a more precise determination of the number of alpha-globin genes than does study of globin synthesis.

Africa↗
PubMed1980

alpha Thalassemia and the expression of hemoglobin G-Philadelphia.

The findings presented for these two families help to explain the inheritance of alpha thalassemia, alpha-chain variants, and the relative expression of alpha genes. An 18.0-kb EcoRI fragment contains only one functional alpha gene, whereas a 20.5-kb fragment contains two. Individuals homozygous for the 18.0-kb EcoRI fragment also lack the 4.1-kb HindIII fragment that normally connects the centers of the duplicated alpha genes. These findings are consistent with a deletion involving the 5' alpha-gene locus. Presence of alpha G-Philadelphia in both families was found in association with the 18.0-kb EcoRI fragment; this short fragment was also found in an individual with alpha A. Inheritance of alpha G-Philadelphia at one alpha-gene locus was therefore also linked to the inheritance of alpha thalassemia due to a deletion involving the second alpha gene. The high percentage (46% to 48%) of alpha G found in some family members was due to alpha-thalassemia trait, or deletion of two alpha genes (-alpha G/-alpha); others with levels of variant of 32% to 34% were shown to have three functional alpha genes (-alpha G/alpha alpha). The genetic expression of the four normal alpha genes therefore appears to be equal and furthermore implies the existence of separate independently functioning transcriptional units for each of these genes in humans. It would be interesting to analyze the alpha genes in Afro-Americans reported to have alpha G-Philadelphia in the 20% to 25% range to determine whether the inheritance of alpha G can be linked to a normal alpha gene.

Base Sequence↗
PubMed1980

Alpha-gene deletions in black newborn infants with Hb Bart's.

The presence of increased Hb Bart's (gamma 4) in cord blood is believed to be an indication of alpha-thalassemia. We have used restriction endonuclease nalyses of DNA to compare the number of alpha-genes with the percentage of Hb Bart's in 6 older children who had Hb Bart's at birth and 17 newborns. Four children with > 2% Hb Bart's had Eco R1 alpha-gene patterns and hematologic data consistent with the presence of two alpha-genes, one per chromosome. Of the remaining 19 children, all of whom had < 2% Hb Bart's, 8 had 3, while 11 had 4 alpha-genes. Three infants with Hb Bart's between 1% or less Hb Bart's. infants with 3 alpha-genes may therefore have elevated or normal levels of Hb Bart's at birth. DNA analysis is the definitive method for the determination of heterozygous alpha-thalassemia syndromes in newborns.

Black People↗
PubMed1979

Effects of dogmatism on state anxiety during the analysis and synthesis of new beliefs.

Investigated the concept of dogmatism as a defense mechanism and the role of threat in the synthesis of new beliefs by examining the effects of dogmatism on changes in state anxiety (A-State) during the analysis and synthesis of new beliefs. Sixty female college students were selected on the basis of extreme scores on the Dogmatism Scale and the trait anxiety (A-Trait) scale of the State-Trait Anxiety Inventory to work on a task requiring the analysis and synthesis of new beliefs. In support of Rokeach's theory, high dogmatics displayed no change in A-State from the analysis to the synthesis period of the task, while low dogmatics exhibited a significant decline in A-State between the two periods. The clinical implications of these findings were discussed in terms of the role of dogmatism in the processing of personality interpretations and test feedback.

Anxiety↗
PubMed1978

The relation between trait anxiety and the Harris MMPI PD subscales among psychiatric inpatients.

Investigated the relationship between trait anxiety and MMPI PD scores among psychiatric inpatients from a multidimensional standpoint by means of the Harris PD subscales. The trait anxiety scale of the State-Trait Anxiety Inventory and the Harris PD subscales were administered to 24 female and 21 male psychiatric inpatients. Trait anxiety was correlated positively with the basic PD scale in accord with previous findings. However, the Self-Alienation and Social Alienation PD subscales were the only Harris subscales that were correlated significantly with anxiety in the positive direction. The Social Imperturbability PD subscale was related inversely to trait anxiety. The findings were discussed primarily in terms of the potential benefit of employing the Harris subscales in studies of psychopathy and in clinical settings.

Adolescent↗
PubMed1976

Noise and hospital stay.

Length of hospital stay for simple cataract surgery was compared retrospectively for a period of construction noise and for two similar periods without construction noise. Hospital stay was significantly longer during the period of construction.

Aged↗
PubMedDate not supplied

Parallel molecular genetic analysis.

We describe recent progress in parallel molecular genetic analyses using DNA microarrays, gel-based systems, and capillary electrophoresis and utilization of these approaches in a variety of molecular biology assays. These applications include use of polymorphic markers for mapping of genes and disease-associated loci and carrier detection for genetic diseases. Application of these technologies in molecular diagnostics as well as fluorescent technologies in DNA analysis using immobilized oligonucleotide arrays on silicon or glass microchips are discussed. The array-based assays include sequencing by hybridization, cDNA expression profiling, comparative genome hybridization and genetic linkage analysis. Developments in non microarray-based, parallel analyses of mutations and gene expression profiles are reviewed. The promise of and recent progress in capillary array electrophoresis for parallel DNA sequence analysis and genotyping is summarized. Finally, a framework for decision making in selecting available technology options for specific molecular genetic analyses is presented.

DNA↗