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Biomedical subjects

M Ray

Publications and source records attributed to M Ray.

122 records · Page 7Linked to original sources

Galactose-6-phosphate dehydrogenase. Purification and partial characterization.

A new enzyme, galactose-6-phosphate dehydrogenase has been purified about 50-fold from goat liver. The enzyme can be distinguished from the nonspecific hexose-6-phosphate dehydrogenase and glucose-6-phosphate dehydrogenase by its high substrate specificity and absolute pyridine nucleotide requirement. In contrast to the hexose-6-phosphate dehydrogenase, this enzyme is located exclusively in the cytoplasmic fraction of the cell. The enzyme is a metalloprotein and is highly sensitive to mercurials. The product of the reaction is possibly a ketoaldose, phosphorylated at the primary alcoholic group.

Alcohol Oxidoreductases

Studies on the prevention of respiratory distress syndrome of infants due to hyaline membrane disease with plasminogen.

Hyaline membrane disease (HMD) is leading single cause of death of newborn, premature infants. The "hyaline membranes" consist chiefly of fibrin. The clinical manifestation of HMD is the respiratory distress syndrome (RDS). Infants with RDS were treated with urokinase-activated human plasmin in a previous clinical trial. Survival rate was increased in the plasmin treated group as compared to the placebo recipients. However, cost and difficulty in the preparation of the enzyme made this treatment impractical. We, as well as others, have shown the premature infants lack serum plasminogen; thus they are unable to develop effective fibrinolysis and are defenseless against pulmonary fibrin deposition. Therefore, plamsinogen was tested as a possible preventive agent in RDS due to HMD. In a double blind, randomized study, infants between 1 and 2.5 kg birth weight received plasminogen or placebo shortly after birth, and were then followed for development of RDS. After 100 infants were entered into the study, the code was broken and results were evaluated to assure safety of the procedure. Among the 100 infants, 51 received placebo, 49 received plasminogen. Among the infants who received placebo, seven developed mild, and ten developed severe respiratory distress; of these ten, five died with histopathologically documented HMD. Two infants died from causes other than HMD. Among the 49 infants treated with plasminogen, 13 developed mild and three developed severe respiratory distress. There was no death due to HMD. Two deaths were due to other causes. Factors placing the infant at risk from HMD (degree of prematurity, sex, cesarean section, bleeding episodes during pregnancy, maternal diabetes) were found to be evenly distributed between control and treated groups. Since completing the first phase of the study, data of an additional 277 infants has become available. Although the code was not broken in this series, a preliminary look at mortality data in comparison with mortality data of the first series of 100 (in which the code was broken) suggests that preventive activity of plasminogen has been maintained in the second phase of the study.

Birth Weight

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.

Data from a chromosome examination of 14,069 consecutive newborn infants is presented. Successful karyotypes were obtained on 13,939 babies using short-term blood cultures and conventional staining methods. Of those, 13,645 babies had normal chromosomes; 64 (0.46%) had a major chromosome abnormality; and 230 (1.65%) had a marker chromosome; giving a total of 294 (2.11%) babies with a major chromosome abnormality or distinctive marker chromosomes. Six male babies with sex chromosome abnormalities had a 47,XXY and four a 47,XYY karyotype, and three were mixoploids. Five female babies had a 47,XXX karytotype and two were mixoploids. There were three babies with ambiguous external genitalia, all with normal karyotypes. Fourteen babies had 21-trisomy; there were three 18-trisomics and one 13-trisomic. The mother of one 18-trisomy baby had a balanced (18;21) translocation. Twenty-four infants had a balanced chromosome rearrangement. Eleven of these were reciprocal and thirteen were Robertsonian translocations. One baby had an unbalanced derivative chromosome resulting from an 18;11 insertion. Two infants with additional unidentified fragments were detected. Two hundred and thirty babies (1:60) carying distinctive chromosome variants were detected. The commonest variant was the Yq+ among males (0.89%). Other common variants involved the short arms of the D and G groups (0.32% and 0.57%, respectively) 16q+ (0.09%), and 1q+ (0.04%). The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live-born babies. This represents a small proportion of all conceptuses with chromosome abnormalities, which has been estimated as being approximately 1:20. It is thus clear that chromosome abnormalities form a major part of the genetic load carried by the human population. The development of chromosome banding techniques already has increased, and with further increase, the complexities of human cytogenetics and may reveal many additional rearrangements undetectable by conventional methods.

Canada

Deletion of the short arm of chromosome No. 10.

A newborn male infant, whose karyotype was 46,XY,del(10)(p13) is presented. The clinical features included cleft lip and palate, preauricular pits, low set malpositioned auricles, antimongoloid slant of the eyes, microcephaly, micrognathia, congenital heart disease, hypertrophic pyloric stenosis, cryptorchidism, and abnormal dermatoglyphics. The child died at the age of 3 months in overwhelming urinary infection with septicemic complications. It is suggested that the features described here may represent a new, clinically recognizable chromosomal syndrome.

Abnormalities, Multiple

Tumor antigens in hamsters with sarcomas associated with herpesvirus type 2.

Tumor-associated antigens (TTA) were demonstrated in preparations of hamster sarcomas associated with Herpes simplex virus type 2, as well as in the sera of tumor-bearing hamsters. An immunoadsorption-in-gel method was employed to demonstrate and purify the TAA and anti-TAA. These results suggest the potential use of this technique for the demonstration of TAA or of anti-TAA in humans or animals with cancer.

Animals

Sudden death in patients evaluated for ischemic heart disease.

Data from 981 patients evaluated for ischemic heart disease with coronary angiography were reviewed to identify variables predictive of sudden death and duration from onset of symptoms to death. During the period of follow-up, 113 patients died. Of these deaths, 99 were classified as cardiovascular. Forty percent occurred within 1 hour of onset of symptoms, 34% within 24 hours, and 25% in greater than 24 hours. Patients prone to sudden death were characterized as having severe multiple-vessel disease in combination with left ventricular dysfunction and disturbances in intraventricular conduction and rhythm. The best five-variable model to predict sudden death in these patients included the following variables: number of vessels greater than or equal to 70% obstructed (P less than .001); therapeutic requirement of inotropic (P less than .003) and diuretic (P less than .006) drugs; premature beats (P less than .006); and ventricular conduction defects (P less than .008). Additional variables were related significantly to the duration of the terminal episode. These data are preliminary, but indicate the possibility of identifying patients prone to sudden death.

Age Factors

Fra(2) (q13) and inv(9) (p11q12) in autism: causal relationship?

Twenty individuals with autism or related disorders underwent chromosome analysis and physical examinations with documentation of minor anomalies. Chromosome anomalies were identified in 3: 2 had the heritable folate sensitive fra(2) (q13) site and 1 had an inv(9) (p11q12). No heritable chromosome variants or anomalies were seen in 20 age and sex-matched control individuals. When patients with the fra(2) were excluded from analyses, there was no difference in the frequency of chromosome breaks and/or gaps between the study group and control group. The results of this study suggest that heritable folate sensitive fragile sites and other chromosome variants may be more commonly seen in individuals with autism or related disorders in childhood than in the general population.

Adolescent

Cytophotometric and cytogenetic analyses of mouse lymphomas.

Simultaneous cytophotometric and cytogenetic analyses of spontaneous mesenteric lymphomas from three female mice are reported. No statistically significant deviation from normal lymph node cells could be detected for any of the tumors with respect to nucleic acid content. However, all three tumors demonstrated trisomy as the major cytogenetic anomaly. Chromosome 7 or 8 was found to be the extra chromosome in two of the lymphomas while identification of chromosomes was not possible in the third.

Animals