Biomedical subjects
L E Karp
Publications and source records attributed to L E Karp.
Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of Duchenne muscular dystrophy (DMD).
The activities of pyruvate-kinase (PK) and creatine-kinase (CK) were measured in 50 normal pregnant women in both serum and amniotic fluid. Serum PK activity was found to be significantly higher in pregnant than in nonpregnant women, while serum CK did not differ significantly between the two population samples. In amniotic fluid, very little or no PK or CK activity was found. However, the mean PK activity in amniotic fluid obtained from women carrying male fetuses was significantly higher than in those carrying female fetuses. At the present time, it is concluded that if a woman at risk for having a son with Duchenne dystrophy is seeking genetic counseling when already pregnant her serum PK or CK should be compared with that of normal female pregnant controls. It is also suggested that determination of pyruvate-kinase in fetal blood might be used in addition to CK for prenatal diagnosis of Duchenne muscular dystrophy.
Fetal surgery.
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The relationship of pyospermia and seminal fluid bacteriology to sperm function as reflected in the sperm penetration assay.
The relationship of the parameters of seminal fluid analysis (SFA) and seminal fluid leukocyte concentration to the in vitro sperm penetration assay (SPA) was studied in 217 men from infertile couples. Significant positive correlations were found between the SPA and sperm count, sperm motility, and morphologically normal sperm. The total number of leukocytes per milliliter, the number of polymorphonuclear leukocytes per milliliter (PMN), and the number of lymphocytes per milliliter were negatively correlated with the results of the SPA. The strongest correlation with an abnormal SPA (less than 11% of eggs penetrated) was the presence of greater than or equal to 1 PMN/100 sperm (8.17 increased relative risk of an abnormal SPA). The most important predictor variables of the percent penetration of the sperm penetration assay were total numbers of leukocytes per milliliter, sperm count, and sperm motility. Microbiologic studies of semen were not correlated with SPA results or number of leukocytes in the semen.
Possible relationship between in utero diethylstilbestrol exposure and male fertility.
Seventeen men who were exposed in utero to diethylstilbestrol (DES), 12 non-DES-exposed volunteers, and 11 fertile control subjects were evaluated by physical examination, seminal fluid analysis, and sperm penetration assay (SPA). Fourteen of the 17 male subjects exposed to DES in utero and two of the 12 non-DES-exposed volunteers had SPAs of less than 14% and qualified as infertile by the criteria of this test. All 11 fertile control subjects had demonstrated SPA values in the fertile range. Thirteen of the 17 DES-exposed male subjects, four of the 12 non-DES-exposed volunteers, and four of the 11 fertile control subjects demonstrated at least one abnormality of the reproductive organs.
Evaluation of elective repeat cesarean section as a standard of care: an application of decision analysis.
The rationale for routine repeat cesarean section (RCS) is avoidance of uterine rupture during labor. However, the incidence of uterine rupture following modern cesarean section is low, and the charge for cesarean section is greater than that for a trial of labor (TOL). The technique of decision analysis was used to investigate strategies of elective RCS and TOL with precautionary monitoring. Hypothetical cohorts of 10,000 pregnant women with previous low-transverse cesarean incisions were assumed. Probability data were obtained from the literature. In the TOL cohort, 6,623 patients were delivered vaginally. Uterine rupture occurred in 73 patients. In spite of this, TOL resulted in 37 fewer perinatal deaths and 0.7 fewer maternal deaths than elective RCS. The excessive perinatal mortality in the RCS cohort was related to iatrogenic prematurity that is now avoidable with the lecithin/sphingomyelin test. Direct costs were $5 million greater in the RCS cohort. We concluded that in contemporary practice mortality rates are essentially equal for both delivery practices. However, substantial cost savings are available with TOL.
Should God take out a patient?
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In appreciation of jumping Frenchmen.
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Genetic drift: the fault is not in our stars.
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Prenatal diagnosis of neural tube defects: predictive value of AF-AFP in a low-risk population.
Amniotic fluid alpha-fetoprotein (AF-AFP) determinations were performed on 1,215 women who were at low risk for fetal neural tube defects and who were undergoing mid-trimester amniocentesis for cytogenetic indications, primarily age-related aneuploidy. Maternal sera obtained before amniocentesis and amniotic fluids were assayed in duplicate for alpha-fetoprotein by radioimmunoassay. Of the 1,215 low-risk women, eight (0.7%) had significant elevations of AF-AFP (greater than or equal to +5 SD). In none of the cases was the elevation associated with a fetal neural tube defect. Two cases with elevated AF-AFP were associated with chromosome aberrations; one with impending fetal demise; one with fetal blood contamination; and one case was due to a laboratory error. In one case, no source for the elevated AFP was found, and a normal infant was delivered at term. In the final two cases, the cause of the elevated AF-AFP was a fetal abdominal wall defect (one gastroschisis and one omphalocele). The predictive value of an elevated AFP varies with the population screened, and is reduced by routine ultrasonography before amniocentesis, which at least identifies anencephaly. In a low-risk population, an elevated AF-AFP is most often not associated with a fetal neural tube defect. Because of the low predictive value and the nonspecificity of AF-AFP, genetic counselors should reconsider the recommendation of routine AF-AFP in low-risk maternal populations.
A.I.D. and genetics: some further thoughts.
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Adrien Bleyer: in the right place at the wrong time.
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Use of genetic markers to certify fetal origin of cultured amniotic fluid cells.
Phenotypes of five polymorphic enzymes: red cell acid phosphatase, phosphoglucomutase, esterase D, adenosine deaminase, and 6-phosphogluconate dehydrogenase were determined in extracts of 24 amniotic fluid cell cultures and in the corresponding maternal red cells. Twenty-one of the 24 fetus/mother pairs can be distinguished by at least one of the markers. Thus, polymorphic enzyme markers may be useful in affirmation of fetal origin of cultured cells and to avoid possible diagnostic errors.
Correlation of biparietal and fetal body diameters: 12--26 weeks gestation.
One hundred thirty-four obstetrical diagnostic sonographic examinations were performed on patients of 12--26 gestational weeks. The following abdominal diameter measurements were obtained: (1) anteroposterior transverse diameter; (2) right-to-left transverse diameter; (3) average of (1) and (2); and (4) greatest longitudinal diameter. These measurements were plotted against the respective biparietal diameters, and normal statistical distribution curves were developed. These curves have proven helpful in cases with a questionable disproportionate relation between the fetal head and body size in early pregnancy. The data have facilitated identification of fetal abnormalities sufficiently early in the pregnancies to permit advising therapeutic abortion. Five cases outside the normal range are discussed and compared to normal. In several cases, the sonographic results played a major role in the decision-making process of the patient involved.