PubMed Health⌕ Search

Biomedical subjects

R E Wenk

Publications and source records attributed to R E Wenk.

At least 19 recordsLinked to original sources
PubMed1992

How frequent is heteropaternal superfecundation?

A newly discovered case of heteropaternal superfecundation (HS) is reported. Three HS cases were found in a parentage test database of 39,000 records. The frequency of HS among dizygotic twins whose parents were involved in paternity suits is 2.4%. Although the study population appears similar to the general population with respect to twinning data, inferences about the frequency of HS in other populations should be drawn with caution.

Adolescent↗
PubMed1992

Two-man and two-sibling paternity cases.

Traditional genetic marker systems rarely fail to resolve paternity disputes when two or more men are accused, except when men are brothers. A sibling of the biologic father may not be excluded by these laboratory tests and sometimes yields calculated odds of paternity that are equal to or higher than the true male parent. Resolved two-brother cases were compared with resolved cases involving two unrelated men. In each case, the residual odds of paternity were determined for each man and the greater was divided by the lesser to produce a paternity fraction. The paternity fraction is a useful indicator of biologic parentage when it exceeds a value of 10 (log10 of-the-odds score greater than or equal to 1). Tests for alleles at highly heterozygous loci are indicated in initial laboratory evaluations of cases involving brothers. Human leukocyte antigen and variable number of tandem repeat polymorphisms appear suitable.

Alleles↗
PubMed1992

Technical progress in parentage analysis.

At the turn of the 20th century, Mendel's laws were found to be applicable to human blood groups. Within two decades, blood group genetics were applied to problems of parentage. Expansion of immunohematology into leukocyte antigen identification produced the single most informative, expressed polymorphism. About the same time, analysis of a great number of soluble protein polymorphisms followed advances in electric separation methods, enzymology, and immunochemistry. As new, independent loci were discovered, the power to exclude the falsely accused increased, and it became possible to apply Bayesian principles to determined probabilities of biologic relationships. The revolution in nucleic acid technology has dramatically improved analysis and statistical inferences. By the turn of the 21st century, laboratories should be able to determine biologic parentage with virtual certainty.

Blood Group Antigens↗
PubMed1992

alpha-fetoprotein and screening markers of congenital disease.

Alpha-fetoprotein (AFP) is produced in the gut and liver during fetal life and appears to act like albumin in the adult. Because AFP appears in the maternal circulation during pregnancy, interest has been focused on its measurement in maternal serum to predict fetal abnormality. In addition, AFP, as an embryonic product, is elevated in certain malignant states. This article provides a summary of current clinical knowledge of AFP and its applications.

Amniotic Fluid↗
PubMed1990

Parentage analysis by endonuclease shattering of hypervariable DNA.

Single-locus DNA probes for tandem repeat sequences are now used in conjunction with particular endonucleases to characterize heritable restriction fragment lengths in parentage tests. Southern blots of this type, however, demonstrate only two attributes of an allele: its length and the presence of nucleotide sequences that are complementary to the probe. Not all restriction fragments of the same apparent length that react with the same probe are identical. Differences between comigrating fragments can be detected by the selection of a restriction enzyme that recognizes sites in a subset of the repeat sequences, and the information content of these loci is therefore increased. This report describes a paternity case in which two brothers appeared, after DNA phenotyping using Hinf I, to be the father. A second phenotyping using Hae III excluded one of the brothers.

Alleles↗
PubMed1988

Naturally occurring human antibodies against two distinct functional domains in the heavy chain of FXI/FXIa.

We have isolated and probed the mechanism of action of two naturally occurring antibodies (Baltimore and Winston-Salem) against factor XI (FXI), that developed in patients congenitally deficient in FXI after replacement therapy. Purification on immobilized protein A and neutralization with monospecific antibodies against IgG heavy and light chain subtypes indicated that both antibodies were of restricted heterogeneity. Both Winston-Salem (IgG3 kappa) and Baltimore (IgG1 kappa) completely inhibited FXI coagulant activity at titers of 200 and 8 Bethesda units, respectively. Immunoaffinity columns prepared from each antibody were able to bind the heavy but not the light chain of reduced and alkylated activated FXI (FXIa). The activation of purified FXI by activated bovine factor XII (FXIIa), a reaction independent of high molecular weight kininogen (HK), was not inhibited by either antibody. The active site on the FXIa light chain was unaffected by either patient's IgG, as measured by its amidolytic activity. In contrast, one antibody (Baltimore) or its Fab' blocked the surface-mediated proteolytic activation of FXI by human FXIIa in a concentration-dependent fashion by preventing its binding to HK, but had no effect on the rate of activation of FIX by FXIa. In contrast, the other antibody (Winston-Salem) or its Fab' inhibited the activation of FIX by FXIa in a concentration-dependent fashion but did not inhibit binding of FXI to HK. We conclude that each of these two naturally occurring antibodies is directed against a specific, separate, and distinct epitope located in the heavy chain of FXIa, one near or at the domain essential for the activation of FIX by FXIa and the other close to the domain required for binding to HK.

Amides↗
PubMed1987

Sudden cardiac death from acute fluoride intoxication: the role of potassium.

The mechanism of sudden cardiac death following acute fluoride intoxication has been thought to result from profound hypocalcemia produced by the precipitation of calcium fluoride salts. In studies of a canine model, the onset of lethal ventricular arrhythmias was temporally more associated with an elevation of serum potassium than with a drop in serum calcium. Fluoride-induced hyperkalemia could not be prevented with glucose, insulin, or bicarbonate. In the erythrocytes, a five-minute exposure to 10 mM NaF caused a 50% increase in extracellular potassium concentrations after 12 hours compared to control erythrocyte suspensions (P less than .001). The total potassium efflux after 12 hours of incubation was linearly related to the log of fluoride contact time (r, 0.886; P less than .001). The treatment of fluoride-induced hyperkalemia may depend on removal of fluoride and potassium.

Animals↗
PubMed1987

"Unclassifiable" weak A blood group and deficient H phenotype (Hm) in one pedigree. Variants of A and H types in a family.

A new variant of blood group A [A(WAS)] was expressed in three generations of a Caucasian family: Phenotype included weak mixed field hemagglutination by anti-A reagents, secretion of H substance, and presence of anti-A1 in serum. The A(WAS) variant was inherited in a Mendelian fashion, dominant to O. A-transferase activity was absent from cells and saliva but was 0.2% of normal A1 transferase activity in serum, with a pH optimum of 6.0. Family members expressing A(WAS) also demonstrated partly deficient H type on cells (Hm). H-transferase activity in serum was normal for a weak A subgroup and showed typical Km and acceptor specificities. Linkage of H-modifier and ABO loci cannot be excluded.

ABO Blood-Group System↗
PubMed1986

Alloimmunization by hr'(c), hemolytic disease of newborns, and perinatal management.

A study was made of hr'(c) hemolytic disease to determine its natural history and to develop criteria for its management. Anti-c is 0.52 as frequent as anti-D(Rho) in gravid women. Seventy-four percent of infants born of c-alloimmunized women mated to c-positive men show serologic evidence of hemolytic disease of newborns. Up to 40% of affected infants require transfusion. There is evidence that ABO incompatibility between mother and fetus protects against alloimmunization. Although alloimmunization is frequently related to fetomaternal bleeding, severe hemolytic disease appears to be associated with previous maternal transfusion. Maternal antiglobulin titers of less than 1:16 are usually associated with mild disease or none at all. Women with higher titers, whose mates are hr'(c)-antigen positive, are candidates for amniotic fluid pigment analysis.

ABO Blood-Group System↗
PubMed1986

An autosomal-dominant form of juvenile periodontitis: its localization to chromosome 4 and linkage to dentinogenesis imperfecta and Gc.

Study of a large five-generation kindred from southern Maryland revealed that type III dentinogenesis imperfecta (DGI-III) and a localized form of juvenile periodontitis (JP) were both segregating as autosomal-dominant traits. Linkage analyses demonstrated that these were two distinct clinical entities, making this family the first documented instance of an autosomal-dominant form of JP. Since the locus for the more common form of dentinogenesis imperfecta (DGI-II) is on chromosome 4q [Ball et al, 1982], a linkage analysis of genetic and chromosomal markers on chromosome 4 was undertaken. The results suggested that the locus for the DGI-III subtype is located a similar distance from the Gc locus (theta = 0.12) as the distance previously observed between Gc and DGI-II loci (theta = 0.11) [Ball et al, 1982; Conneally et al, 1984]. Most likely the two DGI subtypes are determined by genes at closely linked loci, by allelic genes, or by the same gene with the variable expression in different families. In addition, close linkage between the Gc locus and that determining the autosomal-dominant form of JP was observed in this family (theta = 0.05). The known map of chromosome 4q and our analysis of the markers tested suggested the gene order to be 4cen----JP----Gc----DGI----MNS----qter with a large distance (at least 15 cM) between 4cen and JP.

Aggressive Periodontitis↗
PubMed1985

The manipulation of potassium efflux during fluoride intoxication: implications for therapy.

Based on findings in 2 fluoride-toxic patients, it was suspected that hyperkalemia played a clinically important role in the etiology of sudden death from fluoride poisoning. Using fluoridated human erythrocytes as an in vitro model, it was confirmed that fluoride produced a marked potassium efflux from intact cells. Further, neither glucose and insulin in pharmacologic doses, nor various buffers could halt the efflux by shifting the potassium intracellularly. If these results can be extrapolated to the clinical situation, removal of potassium and fluoride via exchange resins or dialysis remains the only reasonable approach to this life threatening problem. Aside from sudden hyperkalemia and hypocalcemia, no serologic marker for fluoride toxicity has been identified. A high degree of clinical suspicion is therefore essential to the diagnosis.

Calcium↗
PubMed1985

Amniotic fluid and advances in prenatal diagnosis.

Maternal blood, amniotic fluid, and chorionic villus samples may be evaluated in the prenatal detection of neural tube defects, cytogenetic disorders, and inborn errors of metabolism. Laboratory tests for these abnormalities usually involve very specialized methods. They should be accompanied by equally rigorous clinical follow-up methods and expert counseling.

Adult↗
PubMed1985

Kell alloimmunization, hemolytic disease of the newborn, and perinatal management.

The relative frequency of Kell (K:1) antibodies in pregnant women and a series of cases of Kell hemolytic disease of newborns were evaluated to review the strategy of managing potential disease. Among reproductive-aged women, Kell antibodies are about 60% as frequent as Rho (D) antibodies, but Kell disease is only 3% as common as Rho hemolytic disease. The reason is related to frequent transfusion-alloimmunization by Kell antigen and the low frequency of the K:1 gene among fathers. Kell hemolysis is severe in about half of cases. Amniocentesis is indicated in only a few circumstances: previous child with erythroblastosis fetalis, significant increase in maternal Coombs titer, presence of Kell antigen in the father, and after comparison of the relative risks of hemolytic disease and amniocentesis in each patient. Screening for Kell antigen before transfusing premenopausal women would be a means of avoiding erythroblastosis, but the rarity of severe disease does not justify this approach.

Adolescent↗
PubMed1985

Hospital laboratory inventory management.

Standard business inventory procedures can be cost effective when they are adapted to hospital laboratory inventory management in a 500-bed hospital. The investment in a central laboratory store-room and one additional employee yields financial benefits and indirect service benefits. The system requires consistent use of simple procedures throughout the laboratory, and can be coupled with improved strategies for purchasing supplies.

Cost-Benefit Analysis↗
PubMed1983

HLA in kinship determinations among Haitian immigrants.

Immunogenetic study of alleged first-degree relatives was undertaken among 258 prospective United States immigrants from Haiti. Methods involved serotyping red cells for ABO, Rh, and MN antigens and typing leukocytes for HLA, A, B, and C locus antigens. Kinship was definitely excluded in a relatively low 4.2% of cases involving putative parents and children. Among cases involving alleged siblings, estimates of fraud appeared slightly higher, but the method is suspect because even in true sibships, there may be an absence of obligatory gene markers. Data suggests that some cases involved half-siblings rather than fraud. Of demonstrated exclusions of parent or child, HLA detected the lack of kinship in 87.4% versus 16.9% by red cell typing. However, there were cases in which exclusions were found by red cell methods alone; furthermore, red cell plus HLA typing allows for a calculation of probability of kinship that is analogous to calculations in paternity studies. Together, the red cell and leukocyte systems offer a prior probability of exclusion of parent-child relationships in 91.3%.

Blood Grouping and Crossmatching↗