The phenotypes En(a-), Wr(a-b-), and En(a+), Wr(a+b-), and further studies on the Wright and En blood group systems

In 1975, we showed 18, 19 an En(a-) blood sample to be phenotypically Wr(a-b-). In the current report, we describe tests that show that three En(a-) members of a single family, not believed to be related to the family of the previously tested En(a-) person, are also Wr(a-b-). They have red blood cells that neither react with nor adsorb anti-Wra or anti-Wrb. In addition, we have shown that the red blood cells of six EnaEn heterozygotes, in the family tested, are Wr(a-b+) but carry only a single dose of Wrb antigen. Tests on anti-Ena have shown conclusively that one example is a mixture of separable anti-Ena and anti-Wrb and that a second example may well contain the same two antibodies. By various methods, we have demonstrated that the red blood cells of the only known Wr(a+b-) individual are En(a+) and do not display any of the physicochemical abberations of the En(a-) phenotype. It is further shown that neuraminidase and trypsin do not denature the Wra or Wrb antigens in vitro, but that the protease ficin does have a limited ability to denature Wrb. Additional observations on the first reported example of anti-Wrb are included. These various findings have been considered in the light of gene linkage of, or gene interaction between, the En and Wright system genes. It is concluded that the evidence does not exclude the possibility that En is a silent allele at the WraWrb locus so that the genotype EnEn (or WrWr) might result in the phenotype En(a-), Wr(a-b-). However, it is also pointed out that the evidence equally well supports the postulation that the Wra and Wrb genes are unable to function in the absence of an Ena gene. If this latter theory is proved correct, the interaction between Ena and the Wright genes can be thought of as similar to that between the H and ABO or X1r and CDE genes. It is pointed out that if En is a silent allele at the MN locus (current evidence on this point is not conclusive,) En and Wr cannot be synonymous for it is known that the Wra and M and N genes segregate independently. Location of En at the MN locus would not, however, refute the theory that Wra and Wrb cannot function in the absence of En. Finally, it is pointed out that the supposed anti-Wrb is probably just what its name implies but that even if this assumption is later disproved, the high incidence antigen defined by the antibody presently called anti-Wrb is unequivocally associated with Ena.     

Repair of ventricular septal defect in the first two years of life using profound hypothermia-circulatory arrest techniques

Ventricular septal defect repair had been performed in 57 infants ages 21 days to 21 months and under 10 kg in weight using profound hypothermia-circulatory arrest technics. Severe congestive heart failure was the indication for operation in all but two infants under 6 months of age, and in those under 3 months there was usually an associated moderate or large sized atrial septal defect or patent ductus arteriosus or a coarctation. In infants over 6 months controlled heart failure was accompanied by failure to thrive and often recurrent respiratory infections. The main indication for surgery in three infants was repeated severe respiratory infections and in 7 infants, ages 10-15 months, an elevation of pulmonary vascular resistance of 6 units M2 or more. There were two hospital deaths among the 49 infants without coarctation (ages 6 and 20 months) and two among the 8 with coarctation. Postoperative respiratory and other complications were uncommon. On late review there was no significant residual VSD amongst the 11 recatheterized patients. Psychometric studies in 19 children who had reached the age of three to four years gave no evidence of cerebral damage due to the circulatory arrest period. In view of these results palliative pulmonary artery banding is no longer performed for VSD in infancy unless there is a Swiss cheese septum or an associated severe coarctation.     

Refined microscopic urinalysis for red blood cell morphology in the evaluation of asymptomatic microscopic hematuria in a pediatric population

PURPOSE: The use of refined microscopic urinalysis for the presence of dysmorphic red blood cells (RBCs) has been evaluated in children and adults with a known source of hematuria. We examined the clinical usefulness of this study in a pediatric population with an unknown source of hematuria. MATERIALS AND METHODS: Children 12 years old or younger referred for evaluation of asymptomatic microscopic hematuria exhibiting 4 or more RBCs per high power field were enrolled in this study. Patients provided a first morning urine sample subjected to refined urinalysis for RBC morphology. Standard evaluation of patients was performed until a final diagnosis of the hematuria source was identified. RESULTS: A total of 44 patients completed the study. Refined urinalysis revealed pure dysmorphic RBCs in 22 patients, pure isomorphic RBCs in 8 and mixed isomorphic/dysmorphic RBCs in 14. The presence of dysmorphic RBCs correctly predicted a glomerulotubular source of hematuria in 29 of 36 patients (sensitivity 83%, specificity 81%), while the presence of isomorphic RBCs predicted a uroepithelial source of hematuria in 2 of 8 patients (sensitivity 25%, specificity 22%). Hematuria and 2+ proteinuria (100 mg./dl.) were more sensitive (100%) and specific (83%) than the presence of dysmorphic RBCs in predicting glomerulotubular hematuria. CONCLUSIONS: We believe that this is a costly test offering little additional information to the evaluation of microscopic hematuria in children. A thoughtful history and physical examination with microscopic urinalysis and dipstick for proteinuria provide an equal amount of diagnostic information. We do not recommend its routine use in the evaluation of microscopic hematuria in children.     

Structure-function properties of venom components from Australian elapids

A comprehensive review of venom components isolated thus far from Australian elapids. Illustrated is that a tremendous structural homology exists among the components but this homology is not representative of the functional diversity. Further, the review illuminates the overlooked species and areas of research.     

The translocation-associated tox1 locus of Cochliobolus heterostrophus is two genetic elements on two different chromosomes

Previously, Tox1 was defined as a single genetic element controlling the difference between races of Cochliobolus heterostrophus: race T is highly virulent on T-cytoplasm corn and produces the polyketide T-toxin; race O is weakly virulent and does not produce T-toxin. Here we report that Tox1 is two loci, Tox1A and Tox1B, on two different chromosomes. Evidence for two loci derives from: (1) the appearance of 25% Tox+ progeny in crosses between induced Tox1(-) mutants, one defective at Tox1A, the other at Tox1B; (2) the ability of Tox1A- + Tox1B- heterokaryons to complement for T-toxin production; and (3) electrophoretic karyotypes proving that Tox1(-) mutations are physically located on two different chromosomes. Data showing Tox1 as a single genetic element are reconciled with those proving it is two loci by the fact that Tox1 is inseparably linked to the breakpoints of a reciprocal translocation; the translocation results in a four-armed linkage group. In crosses where the translocation is heterozygous (i.e., race T by race O), all markers linked to the four-armed intersection appear linked to each other; in crosses between induced Tox1(-) mutants, complications due to the translocation are eliminated and the two loci segregate independently.     

Secondary tracheoesophageal puncture: factors predictive of voice quality and prosthesis use

OBJECTIVE: To evaluate retrospectively our surgical experience, techniques and long-term results in 11 patients with coronary artery fistulae associated with other cardiovascular anomalies. METHODS: From January 1980 to April 1995, 11 patients with coronary artery fistulae associated with other cardiovascular anomalies were found among 20,000 open-heart procedures and treated surgically. Besides closure of the fistulae, coronary artery bypass grafting was performed in 5 patients with atherosclerotic coronary artery disease, and aneurysm angioplasty was done in 4 patients with coronary artery aneurysm. Ventricular septal defect and patent ductus arteriosus were closed in one patient and mitral valve replacement was performed in another patient. RESULTS: There were no surgical deaths, but one late death due to acute myocardial infarction occurred 6 months after surgery. The mean follow-up time was 75.7 months and all patients' functional status improved by an average 1.4 judged by the New York Heart Association functional classification. CONCLUSIONS: Coronary artery fistula associated with other cardiovascular anomalies will aggravate symptoms and cause deterioration of heart function. Therefore, evaluation and surgical intervention should be done as soon as possible to restore coronary blood flow and correct concomitant cardiovascular anomalies. The surgical results are excellent with a low operative risk and good long-term results.