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Biomedical subjects

E Mischler

Publications and source records attributed to E Mischler.

9 recordsLinked to original sources
PubMed1994

Severe hemolytic anemia associated with vitamin E deficiency in infants with cystic fibrosis. Implications for neonatal screening.

Three infants are described with cystic fibrosis (CF) and malnutrition leading to severe anemia beginning as early as 6 weeks of age. Laboratory studies demonstrated high reticulocyte counts, negative Coombs' tests, abnormal peroxide hemolysis test results, and biochemical evidence of vitamin E deficiency. Oral administration of alpha-tocopherol resulted in rapid correction of the in vitro hemolysis and improvement of in vivo hematologic indices. Investigation of these patients supports the conclusion that the hemolytic anemia of infancy in CF is caused by vitamin E deficiency and should be treated promptly with 50 IU/day of vitamin E. Because two of the three patients were identified in a CF screening/surveillance program, we can estimate that the frequency of clinically significant anemia in CF infants is 4%. Our observations demonstrate a potential advantage of CF neonatal screening for individual patients susceptible to vitamin E-deficient hemolytic anemia and suggest that confirmatory follow-up diagnostic studies, such as sweat tests, should be performed by 4 to 6 weeks of age.

Anemia, Hemolytic↗
PubMed1989

Neonatal screening for cystic fibrosis in Wisconsin.

Primary care physicians have been very cooperative in referring screened patients to the two designated CF centers in Wisconsin--the University of Wisconsin Cystic Fibrosis Center, and the center at the Medical College of Wisconsin in Milwaukee--and their help has made this study possible. By 1990, we anticipate that meaningful clinical comparisons between the screened and control groups will be possible, and at that time we can begin to obtain some definitive answers concerning the benefits and potential risks of neonatal screening for cystic fibrosis. At this time, it would be premature to make a decision concerning the efficacy of screening for cystic fibrosis for the State of Wisconsin. It is very important that the study go to completion before making conclusive recommendations. We are eager to meticulously document the natural history of CF by following study patients for a long time. Answers to questions concerning rate of decline of the IRT value in true positives, psychosocial risks of screening to true positives, effect on future reproductive plans, and the cost effectiveness of the screening program will not be available for at least two more years. False positive IRT results seem to be related to perinatal asphyxia. We postulate the mechanism is ischemia in the pancreas related to hypoxia during the perinatal period leading to transient release of trypsin from the pancreas into the bloodstream. Decline of the IRT result over time is of great interest because a repeat blood sampling approach would hopefully eliminate several false positives.(ABSTRACT TRUNCATED AT 250 WORDS)

Cystic Fibrosis↗
PubMed1982

Granulocyte chemiluminescence in adolescent patients with cystic fibrosis.

The granulocyte chemiluminescence (CL) response is the result of activating its cellular "respiratory burst" and oxidative metabolism. The resulting light emission is an indication of intact metabolic events important in bactericidal activity. Patients with cystic fibrosis have recurrent pulmonary infections. To determine whether granulocytes from patients with CF have defective oxidative metabolism, CL was assayed in 8 patients and compared with that in normal control subjects. In CF, the peak CL response to opsonized zymosan is normal. If, however, the time required for peak light emission is compared with the NIH Clinical Score, a significant correlation is found. Granulocytes from patients with airway disease and more severe CF have a more rapid onset of the CL response. Although the clinical significance of this observation is not established, granulocytes from patients with CF appeared "primed" in their responses to a phagocytic stimulus.

Adolescent↗
PubMed1982

Comparison of the structure and aspects of the proteinase-binding properties of cystic fibrotic alpha-macroglobulin with normal alpha 2-macroglobulin.

Considerable attention has been focused recently on alpha 2-macroglobulin (alpha 2M), a major endopeptidase inhibitor in blood plasma, as a possible source of the primary defect in cystic fibrosis (CF). We report here studies designed to compare the structure of CF alpha 2M with normal alpha 2M to determine if there is a difference. The physicochemical properties of purified alpha 2M as revealed by various electrophoretic techniques, covalent proteinase binding properties, and primary structural studies on a variety of partial hydrolyzates of CF alpha 2M and normal alpha 2M are compared. These studies were carried out on eight different individual isolates of CF alpha 2M and three age-matched normal alpha 2M preparations and alpha 2M isolated from fetal cord blood. Three properties of CF alpha 2M were studied by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE): (1) the existence of four identically-sized subunits in the native molecule (10), (2) the cleavage of this subunit into fragments of approximately 100,000 daltons upon interaction with proteinases (10), and (3) the cleavage of an alkaline/heat sensitive bond to produce 120,000 and 60,000 dalton fragments (11). Both CF and normal alpha 2M were cleaved to the extent of 79-87%, CF alpha 2M behaves identically with normal alpha 2M with regard to all these properties. Salvesen and Barrett (24) have demonstrated that varying proportions of several [125I]-labeled proteinases form SDS-stable, non-reducible links to normal alpha 2M. Two of the CF alpha 2M preparations were studied to determine if similar covalent binding of proteinases occurred. The positions of the labeled and % of proteinase bound bands in SDS/reduced PAGE system were identical for normal alpha 2M and CF alpha 2M. These results indicate that CF alpha 2M behaves normally with regard to covalent binding of proteinases. Qualitative comparison of the peptide fragments separated by SDS-PAGE or isoelectric focusing of CF and normal alpha 2M produced by partial proteolysis with trypsin, chymotrypsin or Staphylococcus aureus V-8 proteinase did not reveal any difference unique to CF alpha 2M. The cyanogen bromide fragmentation studies and the cysteine cleavage studies also indicated that no major change in the positions of methionyl residues or cysteinyl/cystinyl residues has occurred in CF alpha 2M. The failure of all these different studies and those reported by others to demonstrate any differences between CF and normal alpha 2M makes it highly unlikely that there is a primary defect in alpha 2M in CF.

Adolescent↗
PubMedDate not supplied

Comprehensive team care.

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Adaptation, Psychological↗
PubMedDate not supplied

Cystic fibrosis newborn screening: impact of early screening results on parenting stress.

Newborn screening for cystic fibrosis (CF) is currently available through dried blood analysis for immunoreactive trypsinogen (IRT). The possible parenting stress associated with false-positive results or the early diagnosis of an asymptomatic infant has yet to be systematically addressed. This exploratory study examined levels of parenting stress among mothers of these infants. Results indicated significantly less total parenting stress but greater defensiveness in responding among families of false-positive screened children relative to their healthy comparison families. Parents of children diagnosed with CF through newborn screening did not show significantly higher stress scores than their healthy or "traditionally-diagnosed" CF comparison families. They did however have high frequencies of "at-risk scores" warranting referral based on clinical cut-off levels for Total Parenting Stress scores (45%) and Child Demandingness subscale score (50%). As the possibility for expanding CF neonatal screening to other states is considered, the need for further exploration of psychosocial sequelae affecting parenting will be increasingly important.

Adult↗