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Biomedical subjects

O W Jones

Publications and source records attributed to O W Jones.

At least 73 records · Page 4Linked to original sources

Fetal exsanguination and other vascular injuries from midtrimester genetic amniocentesis.

A case of fetal exsanguination after midtrimester genetic amniocentesis is reported. Examination of the ration of fetal-to-meternal red cells in the amniotic fluid obtained by amniocentesis for genetic study from 242 consecutive patients, including the reported case, suggests that fetal hemorrhage is relatively common and difficult to avoid during this procedure. It also appears that hemorrhage occurs significantly more oftern when the placenta is located anteriorly. Reasons as to why the accident is rarely fatal are considered, and some recommendations for patient counselling and management are discussed.

Adult↗

Glucose-6-phosphate dehydrogenase (G6PD) activity of human sperm.

Sperm from normal human donors and a G6PD-A- individual were examined for x-linked glucose-6-phosphate dehydrogenase activity and autosomally linked 6-phosphogluconate dehydrogenase activity. With the use of fluorescence microscopy, we divised a procedure to visualise in individual sperm cells the fluorescence of reduced coenzyme NADPH formed by each of the two enzymes in the presence of appropriate substrates. We found significant differences in the population distribution of sperm expressing each of the two activities, and the ratio of the two activities in sperm homogenate is very different from the one found in erythrocyte lysates. The possibility of haploid gene expression has been considered in interpreting these results.

Electrophoresis, Disc↗

Amniotic fluid androgens and estrogens in midgestation.

Amniotic fluid androgen and estrogen levels associated with 48 male and 72 female fetuses between 14 and 20 weeks of gestation were measured. Amniotic fluid testosterone levels were significantly higher (P less than 0.001) in the male (224 +/- 11 pg/ml) than the female fetuses (39 +/- 2 pg/ml) with no overlap of values. Amniotic fluid androstenedione concentrations were also significantly higher (P less than 0.001) with male (1024 +/- 53 pg/ml) than female fetuses (668 +/- 39 pg/ml), but there was overlap. There was no difference between anmiotic fluid dehydroepiandrosterone levels for the two sexes. Estrone concentrations were slightly but not significantly higher with the male (353 +/- 33 pg/ml) than with female fetuses (331 +/- 28 pg/ml), while estradiol concentrations were significantly higher (P =0.002) with the female (96 +/- 8 pg/ml) than male (64 +/- 4 pg/ml) fetuses. It is interpreted that the higher amniotic fluid testosterone and androstenedione levels for the male fetuses reflect fetal testicular secretion. The significantly higher estradiol concentrations for the female fetuses may reflect early ovarian secretion.

Amniotic Fluid↗

Amniocentesis for antenatal diagnosis. Review of problems and outcomes in a large series.

The results of amniocentesis for diagnostic genetic studies on 242 patients are presented in detail. These suggest that obtaining fluid free from contaminating red blood cells is important to successful cell culture. The data also suggest that it is technically more difficult to obtain such fluid tham might be expected, despite the use of ultrasonic localization and experienced operators. Nevertheless, 97 per cent of patients who elect to complete antenatal diagnosis will ultimately obtain the information sought, in time to intervene medically if desired. Moreover, the act of obtaining this information is shown to be without significant risk to the ultimate outcome of pregnancy.

Adult↗

Tumor-associated thymidine kinase in the sera of rats with transplanted hepatomas.

A cytoplasmic form of thymidine kinase was detected in sera from rats bearing Morris hepatoma 7777. Polyacrylamide electrophoretic properties demonstrate similarity between the serum enzyme extracted from hepatoma tissue. This form of thymidine kinase has also been described in normal human fetal tissue and a variety of human tumor cells. The results suggest that serum isoenzymes of thymidine kinase may be a useful adjunctive test for the presence of certain types of malignant tumors.

Animals↗

Genetic counseling. An evaluation of public health genetic clinics.

The geographic distribution of County Health Department clinic facilities in the state of California has made it readily possible to establish a regionalized program for genetic counseling services, using public health nurses as a major source of case-finding. From both consumer and health professional standpoints, regionalized satellite genetic counseling clinics have been successful, and in particular, the effectiveness of public health nurses in identifying clinical genetic problems is readily apparent.Long-term follow-up reinforcement of genetic counseling appears to be an important conclusion from these studies. It is our suggestion that reinforcement of counseling would best be accomplished through the health team member (physician, nurse and so forth) following the patient or family rather than through the consulting geneticist.

Adult↗

Amniotic fluid testosterone levels in midpregnancy.

Amniotic fluid testosterone levels were measured on specimens obtained between 12 and 25 weeks' gestation from 58 male-fetus and 77 female-fetus pregnancies. For the male fetuses the mean +/- SE amniotic fluid testosterone level of 223 +/- 10 pg/ml was significantly higher (P less than 0.001) than the concentration found for the female fetuses (40 +/- 2 pg/ml). The ranges were 104-424 and 18-82 pg/ml, respectively, for the same fetuses. In the male fetuses the highest mean level was found during the 17th gestational week, but the mean level observed during any 1 week was not significantly differenf from any other week for both sexes. These data are consistent with the concept that amniotic fluid testosterone levels may be a rapid and effective method for establishing fetal sex in utero during midgestation.

Amniotic Fluid↗

Prenatal diagnosis of trisomy 9.

A male karyotype with trisomy 9 (47,XY,+9) was identified in amniotic fluid cells from a 40-year-old pregnant woman. After termination of the pregnancy by saline abortion, the cytogenetic diagnosis was confirmed in a cell line grown from placental tissue. Microscopic and gross pathological findings in the fetus were compared to 1 case with trisomy 9 and 3 with trisomy 9 mosaicism reported in the literature. A distinct clinical syndrome appears to be associated with this rare autosomal trisomy.

Adult↗

Antenatal diagnosis of an XXX female. A dilemma for genetic counseling.

This report describes the first antenatal diagnosis of an XXX female. Over 150 postnatal cases of XXX females have been described. There is no specific phenotype associated with the sex chromosome abnormality and most such persons are fertile. The frequency of XXX females in mental institutions is 3.9 per 1,000 female subjects whereas the frequency in consecutive newborn infants is 1.1 per 1,000 newborns. Chi-square analysis shows this difference cannot be due to chance. On the other hand, data from consecutive newborn studies suggest that intellectual development in XXX newborns is within normal range. Available evidence favors normal development in XXX female infants although the risk for developmental disabilities may be higher for the XXX than for the XX infant.

Adolescent↗

Constancy in human sperm DNA content.

The frequency distribution of DNA content of human sperm was measured in an automated flow microfluorometer. The flow method measures the DNA content by quantifying the amount of fluorescence emitted by the fluorescent Feulgen stained DNA of single sperm cells suspended in microdroplets. The variability in the mean value for the haploid amount of DNA in sperm from 15 randomly chosen donors was less than 1%. Statistical tests on the observed frequency distribution data indicated that each sperm population probably consists of two homogenous components present in almost equal proportions but differing in mean DNA content. The difference in their modal values for DNA is within the range of known values of DNA difference between the two sex chromosomes. Sperm of donors segregating balanced translocations, when compared to the random samples as a class, showed greater variability in the mean DNA content.

DNA↗