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Biomedical subjects

H Popp

Publications and source records attributed to H Popp.

At least 19 recordsLinked to original sources

Screening Fanconi anemia lymphoid cell lines of non-A, C, D2, E, F, G subtypes for defects in BRCA2/FANCD1.

Biallelic mutations in BRCA2/FANCD1 were recently recognized as a rare cause of Fanconi anemia (FA). Using immunodetection with an antiserum directed against the carboxyterminus of the BRCA2 protein, we screened 38 lymphoid cell lines from FA patients whom we could not previously assign, via retroviral complementation analysis, to any of six known FA complementation groups (FA-A, -C, -D2, -E, -F, or -G). Three of these 38 cell lines lacked the 380-kDa BRCA2 signal on immunoblots. DNA sequencing showed biallelic compound and truncating mutations in two of the immuno-negative cell lines, whereas a monoallelic frameshift mutation and an amino acid substitution were detected in the third cell line. Our data show that less than 10% of unassigned FA cell lines harbor truncating mutations in BRCA2/FANCD1. This finding strongly suggests the existence of (an) additional, as yet unknown FA gene(s).

Cell Line, Transformed↗

Genotyping fetal DNA by non-invasive means: extraction from maternal plasma.

BACKGROUND AND OBJECTIVES: Identification of fetal DNA in maternal plasma may allow genetic analysis without the use of invasive techniques. The aim of this study was to extract DNA from maternal plasma, identify fetal material through the presence of SRY or RHD gene sequences and assess the reliability of these results. MATERIALS AND METHODS: A polymerase chain reaction (PCR) method of a commercial kit was used with primers for SRY or exon 10 of the RHD gene sequence. RESULTS: Multiple plasma samples were collected from 60 women who were evaluable for either SRY or RHD, or both, fetally derived DNA sequences. Fetal DNA was present in the plasma throughout the pregnancies and for some hours or days after delivery. CONCLUSION: Fetal DNA can be reliably detected in maternal plasma from early in pregnancy and normally is cleared within days of delivery.

Adult↗

A flow-cytometric equivalent of the Kleihauer test.

BACKGROUND AND OBJECTIVES: The Kleihauer slide test is in general use to screen obstetric patients for possible fetomaternal haemorrhage. Since 1993, Rh(D)-negative patients have been tested in our laboratory by a flow-cytometric method detecting Rh(D)-positive fetal cells, a method which offers improved sensitivity and accuracy. We report another flow-cytometric method of broader application which quantitates cells according to haemoglobin F (HbF) content. MATERIALS AND METHODS: The red cells are fixed with glutaraldehyde and permeabilized by exposure to Triton X-100. A polyclonal sheep antibody to HbF is incubated with the cells followed by a fluorescein-labelled anti-sheep antibody. RESULTS: Quantitation of the percentage of fetal cells following a FMH can be achieved irrespective of the blood groups of either mother or infant, and the presence of maternal F cells need not interfere since the intensity of staining is usually less than that of fetal cells. Two of 19 transfusion-dependent patients with beta-thalassaemia have been found to have red cells indistinguishable from fetal cells on the basis of HbF content, but these patients also have been found to give positive results by the Kleihauer test. CONCLUSIONS: The flow-cytometric method may serve to replace the traditional Kleihauer test since it appears to offer improved accuracy and objectivity.

Erythrocytes↗

Rapid quantitation of mixed red cell populations using flow cytometry.

Methods are described for the identification and quantitation of mixed red cell populations using flow cytometry. Antibodies specific for a wide range of blood group antigens have been used and examples are given in which these analyses have proved to be of clinical use. These examples include monitoring of erythropoiesis following engraftment in allogeneic bone marrow transplant recipients and the detection of chimaeric states months or years after transplantation. The techniques involved are fast, simple and inexpensive.

Bone Marrow Transplantation↗

Autologous red cell recovery and relapse of multiple myeloma after bone marrow transplantation: is this a graft-versus-myeloma effect?

We report a patient who, following an allogeneic bone marrow transplant for multiple myeloma, recovered autologous erythropoiesis which was rapidly followed by relapse of her multiple myeloma. We postulate that the loss of the graft (as demonstrated by loss of donor erythropoiesis) and subsequent relapse of the multiple myeloma may be support for the existence of a graft-versus-myeloma effect.

Adult↗

Rapid detection of Rh(D)- or K-positive fetal red cells in chorion villus samples by a flow cytometric technique.

Rh(D)- and K-negative women who have become severely isoimmunized by pregnancy are at risk of fetal loss or damage in subsequent pregnancies. A flow cytometric method is described whereby the presence of Rh(D) or K antigen on fetal erythrocytes may be determined using chorion villus samples taken during the first trimester. This method has the advantage of speed and sensitivity with results being available within 2 h. Decisions as to management of the pregnancy or termination may thus be made with minimal delay.

Chorionic Villi Sampling↗

Development of a flow cytometric test for the detection of D-positive fetal cells after fetomaternal hemorrhage and a survey of the prevalence in D-negative women.

A sensitive test for the presence of D-positive fetal red blood cells (RBCs) in the maternal circulation of D-negative women has been developed. It was used to investigate the possibility that the occasional failure in preventing alloimmunization might be due to the administration of inadequate amounts of prophylactic anti-D Rh immune globulin. The standard dose in Australia contains 125 microg of antibody, and can suppress immunization by an estimated 6 mL of packed D-positive RBCs. A fetomaternal hemorrhage (FMH) of this volume is detectable in the maternal circulation as approximately 0.25 percent of the total RBCs. Our test utilizes a commercially available human monoclonal IgG anti-D that has been biotinylated and used with a dye-conjugated streptavidin. Flow cytometry is used to quantitate fluorescing D-positive RBCs. To date, 2,288 tests have been performed on blood samples from D-negative women attending local antenatal clinics or at the time of delivery. Evidence for an FMH has been obtained in six cases (0.26%). In one case, the FMH was only 0.1 percent, and in another (confirmed by the Kleihauer-Betke method), fetal cells constituted only 0.2 percent. Additional Rh immune globulin was not given to these patients. In the other four cases, the D-positive fetal cells were estimated to be 0.7,0.5,0.5, and 0.4 percent, and additional prophylactic Rh immune globulin was administered. Although the prevalence of FMH is low, screening D- negative women at risk of alloimmunization has proved to be simple, fast, and inexpensive.

Journal Article↗

[Environment and environmental medicine--an analysis of the population's need for advice].

Over a period of 6 months all inquiries related to environmental issues and environmental human health problems were recorded by the city administration (city phone, n = 71), the public health office (n = 123) and by pharmacies (n = 94). There was an institutional difference in the spectrum of the questions. Waste problems predominated at the city phone, questions related to nutrition at the pharmacies. More questions were raised by women, questioners were younger than the average population. The questions were based on own experience and on media reports to about the same extent. A relation to health complaints was presumed in 30% of the city phone calls, to about 50% at the pharmacies. Quality of the consultation was assessed by the advisors themselves.

Adult↗

ELDAR, a knowledge base system on microcomputer for electrolyte solutions. The factual knowledge of ELDAR.

The knowledge base system ELDAR (ELectrolyte DAta Regensburg), consisting of data base, method base, rule base, and communication manager, classifies the knowledge of electrolyte solutions into factual, algorithmic, and rule knowledge. In this paper information is given on the factual knowledge of ELDAR and the mapping of facts in Codd's relational data model with an extension of its "1st Normal Form" to repeating attributes. ELDAR offers equal user interfaces for all factual knowledge services, such as literature, data, thesaurus, module, parameter, basic data, and rule retrieval.

Artificial Intelligence↗