Establishment of a cytogenetic service for chorionic villus samples: the split specimen approach.
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Chorionic Villi Sampling↗
Biomedical subjects
B A Gray
Publications and source records attributed to B A Gray.
Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons.
Prometaphase chromosome study of 12 persons with an established diagnosis of the Angelman syndrome demonstrated that 5 had a 15q12 deletion appearing similar to that commonly observed in the Prader-Willi syndrome. Phenotype-karyotype correlation did not show any obvious clinical differences between those with and those without the deletion and no clinical overlap between Angelman and Prader-Willi syndrome was apparent. Our survey suggests that 15q12 deletions are frequent in Angelman syndrome but presence of the deletion does not appear to distinguish different clinical phenotypes. Experience with the cytogenetic study of Prader-Willi syndrome predicts that considerable complexity will emerge between the presence of 15 chromosome abnormalities and clinical expression of Angelman syndrome.
Abnormalities, Multiple↗
Effect of opposite changes in cardiac output and arterial PO2 on the relationship between mixed venous PO2 and oxygen transport.
We examined the relationship between changes in systemic oxygen transport (SO2T) and mixed venous PO2 (PvO2) in nine critically ill patients with acute respiratory failure and analyzed the effect of like and opposite changes in cardiac output (CO) and arterial PO2 (PaO2) on this relationship. Paired measurements of oxygen consumption (VO2), SO2T, and PvO2 were obtained before and after changes in the level of positive end-expiratory pressure (PEEP) equal to or more than 5 cm H2O. VO2 was measured with a rebreathing circuit adapted to a volume ventilator, and SO2T was calculated from thermodilution CO, PaO2, SaO2, and hemoglobin. In eight studies, CO and PaO2 changed in the same direction, and the absolute change in SO2T averaged 48 +/- 38 ml/min/m2. In 12 studies, CO and PaO2 changed in opposite directions, and the absolute change in SO2T averaged 78 +/- 69 ml/min/m2. When PaO2 and CO changed in the same direction, PvO2 increased on the higher level of SO2T (average difference 3.0 +/- 3.7 mm Hg, p less than 0.05) and there was a strong positive correlation between the difference in SO2T on lower and higher levels of PEEP and the difference in PvO2 (r = 0.83). When PaO2 and CO changed in opposite directions, PvO2 was unchanged on the higher level of SO2T, and there was no correlation between the difference in SO2T on lower and higher levels of PEEP and the difference in PvO2 (r = -0.45). VO2 was not different at the lower and higher levels of SO2T in both groups, indicating that VO2 was not transport-limited in these patients.(ABSTRACT TRUNCATED AT 250 WORDS)
Aged↗
Lung water measurements with iodo-antipyrine.
131I labeled iodo-antipyrine and 99mTc labeled erythrocytes were used to measure water content in lungs. These radioactive tracers were injected into 10 rabbits with normal lungs and 11 rabbits with injured lungs. Blood samples were drawn and the subjects were killed. The lungs were removed, weighed and homogenized. Samples of blood and lung homogenate were assayed for 131I and 99mTc. Samples were also weighed before and after drying to a constant weight at 70-75 degrees C. Extravascular lung water was determined by the dual isotope technique and again by gravimetric analysis. The average ratio of the results from the 2 different methods is 1.03 +/- 0.15. The 2 methods were compared by regression analysis and the correlation coefficient was 0.92 +/- 0.09. Our investigation suggests the possibility of measurement of lung water with equilibrium distribution of iodo-antipyrine.
Animals↗
Perfusion distribution and lung thermal volume in canine hydrochloric acid aspiration.
We investigated the effects of a brief period of positive end-expiratory pressure (PEEP) ventilation or nitroglycerin (NTG) infusion on the distribution of pulmonary blood flow and extravascular thermal volume (ETV) in anesthetized dogs with unilateral HCl lung injury. ETV was determined by the thermal dye technique by use of a monoexponential extrapolation to exclude recirculating indicator, and regional blood flow was determined by a particle distribution technique (radiolabeled plastic microspheres). The lungs were weighted after the animals were killed, and extravascular lung mass (ELM) was determined with the use of hemoglobin to correct for trapped lung blood. Measurements were obtained before instillation of HCl into the right lung and repeated 3 h later before, during, and after PEEP ventilation or NTG infusion. Fractional perfusion of the severely injured portion of the right lung (Qinj/QT) fell from 44.3 +/- 11.1% at base line to 27.8 +/- 15.4% after the onset of lung injury. PEEP produced an acute reversible increase in ETV (63 +/- 37% over average of pre- and post-PEEP values), and the changes in ETV were closely correlated with changes in Qinj/QT (r = 0.91). NTG infusion produced insignificant increases in ETV (14 +/- 10% over average of pre- and postinfusion values) and Qinj/QT (59 +/- 35%), but the changes in ETV and Qinj/QT were strongly correlated (r = 0.92). The fraction of extravascular lung mass detected by the thermodilution measurement averaged 0.44 (range 0.24-0.77).(ABSTRACT TRUNCATED AT 250 WORDS)
Animals↗
The exclusionary clause and the disadvantaged: do we try to comply with the law?
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Child↗
Rapid cell culture procedure for tissue samples.
Cell culture is an integral part of genetic studies, including cytogenetic, metabolic, and DNA analyses. Standard culture procedures used today involve plating minced tissue explants in dishes and waiting 3 to 4 weeks for adequate growth. We describe a method that utilizes collagenase digestion of tissue biopsies, enabling cell harvest as soon as 3 days after culture initiation; this has been used successfully in our laboratory for cytogenetic and metabolic studies. Culture duration can be controlled by the cell plating density. Although collagenase digestion of tissues is commonly used in cytogenetics laboratories for tumor or chorionic villous dissociation, we have found that few labs have considered using this rapid and efficient procedure for routine tissue samples.
Cell Adhesion↗
Gliosarcoma with chromosome abnormalities in a neonate exposed to heptachlor.
A neonate with a cerebral gliosarcoma was found to have chromosome abnormalities in tissue culture of the tumor, but normal karyotyping of peripheral blood. Similarities to and differences from chromosome abnormalities found in other human gliomas are noted. Unusual exposure of the child to heptachlor during prenatal development and the neonatal period suggests the need for further studies on the role of toxins in oncogenesis.
Animals↗
Psychotherapy and black women: a survey.
A survey of black and white psychiatrists on the subject of nonpsychotic black female patients in psychotherapy yielded 93 usable responses. Among the findings are a profile of the average black woman in psychotherapy, responses to questions on clinical and therapeutic issues, and the role of racism as reported by the psychiatrists.THE PROFILE OF THE AVERAGE BLACK WOMAN IN PSYCHOTHERAPY THAT EMERGED WAS: she is married, in a technical or semi-professional occupation, with some college experience, in the age range of 26 to 40 years, and most often diagnosed with an anxiety disorder. The most frequent presenting problem is depression, with family problems second in frequency. Developing new coping mechanisms was the most difficult stage of the treatment process. Self-esteem was the most frequent unconscious conflict. Racial discrimination was most often incorportated as a symptom. The impact of racism on the treatment process most frequently occurred in the area of working through conflicts.
Adult↗
Spontaneous expression of fra(11)(q23) in a patient with Ewing's sarcoma and t(11;22)(q23;q11).
Cytogenetic analysis of a Ewing's sarcoma revealed a 46,XX,t(8;18)(q11;q21.3), t(11;22)(q23-24;q11-12) chromosome pattern. Observation of t(11;22) is consistent with other reported cases of Ewing's sarcoma. One breakpoint in this translocation, 11q23, coincides with the location of a folate-sensitive fragile site. Examination of peripheral blood leukocyte chromosomes from the patient revealed a 46,XX chromosome pattern with spontaneous, fluorodeoxyuridine-, and Bactrim-induced expression of fra(11)(q23). This may be the first demonstration of constitutional fra(11)(q23) expression in a patient with a neoplasm that exhibits a chromosome rearrangement involving this breakpoint and the first observation of spontaneous expression of this fragile site. These results provide a basis for discussion of the relationship between fragile sites and chromosome rearrangements.
Child↗
Effect of PEEP and type of injury on thermal-dye estimation of pulmonary edema.
We investigated the effect of positive end-expiratory pressure (PEEP) on the extravascular thermal volume of the lung (ETV) determined by the thermal-dye technique in three canine models of pulmonary edema created by injection of alpha-naphthylthiourea (ANTU) or oleic acid (OA) into the pulmonary circulation or intrabronchial instillation of hydrochloric acid (HCl). ETV was determined before, during, and after ventilation with 14 cmH2O PEEP, and final ETV was compared with the extravascular lung mass (ELM) determined postmortem. Final ETV correctly estimated ELM in 12 animals with ANTU injury, ETV/ELM = 1.04 +/- 0.13, but underestimated after HCl injury (n = 5), ETV/ELM = 0.61 +/- 0.23, and OA injury (n = 6), ETV/ELM = 0.73 +/- 0.19. Whereas PEEP had no consistent effect on extravascular thermal volume in ANTU edema, there was a reversible increase in ETV during PEEP in animals with HCl or OA injury and underestimation of ELM. The increase in ETV during PEEP averaged 9.3 +/- 3.8 ml/kg (62 +/- 42%) over the mean of the pre- and post-PEEP values after HCl injury (P less than 0.01) and 6.7 +/- 4.4 ml/kg (47 +/- 35%) after OA injury (P less than 0.02). There was an inverse correlation between the change in ETV during PEEP and the ETV/ELM ratio for animals with HCl and OA injury (r = -0.94). We conclude that PEEP produces a reversible increase in ETV in some models of lung injury by allowing for distribution of thermal indicator through a larger fraction of the lung water and that this response may be useful to detect underestimation when gravimetric measurements are not available.
Animals↗
Relationship between CO and transit times for dye and thermal indicators in central circulation.
We investigated two factors that may influence the estimation of lung water by the thermal-dye double-indicator-dilution method: 1) changes in cardiac output (CO), and 2) thermal equilibration with cardiac tissue. In theory, the difference between mean transit times of thermal and dye indicators (delta MTT) is proportional to the extravascular volume of distribution of the thermal indicator (VODev) and inversely related to CO. The delta MTT also includes a time element DT due to the difference in response times of the measuring instruments such that delta MTT = VODev/CO + DT. In nine anesthetized dogs we recorded 286 aortic thermal and dye curves following left atrial (LA) and right atrial (RA) injections as CO was increased from 2.35 to 6.65 ml X s-1 X kg-1 by isoproterenol infusion, and a regression of delta MTT on CO-1 was performed. DT was measured in vitro for comparison with the y-intercept. In six of nine dogs the slope of the regression for LA injections was not different from zero, indicating that there is no measurable volume of distribution for thermal indicator in cardiac tissue. For RA injections the relationship between delta MTT and CO-1 was linear in all experiments, with an average correlation coefficient of 0.97 +/- 0.01 (SE), indicating that the VODev was constant over a threefold increase in CO. Although the in vitro measurement of DT agreed closely with the average of the y-intercepts of the regressions, small between-subject differences in DT can lead to apparent flow-related changes in extravascular thermal volume computed in the conventional fashion using the in vitro estimate of DT.
Animals↗
Problems in diagnosing schizophrenia and affective disorders among blacks.
In this country schizophrenia has been consistently overdiagnosed and affective disorders underdiagnosed, particularly among blacks and lower socioeconomic groups. The general causes of such misdiagnoses include overreliance on the classic thought disorder symptoms as pathognomonic of schizophrenia and, for affective disorders, lack of clearly defined boundaries between normal and abnormal mood and failure to realize that patients with affective illness can manifest cognitive symptoms. In addition to the above factors, misdiagnosis among blacks results from such factors as cultural differences in language and mannerisms, difficulties in relating between black patients and white therapists, and the myth that blacks rarely suffer from affective disorders. Clinicians and researchers must pay more attention to the effects of cultural differences on diagnosis, and baseline behaviors and symptomatology for blacks must be established.
Black or African American↗
Thermodilution measurement of lung water.
The detection and measurement of pulmonary edema by the thermal-dye method appears to be accurate and reproducible under specified laboratory conditions. The ETV, which represents the difference in distribution volumes of the diffusible (thermal) indicator and the intravascular (green dye) indicator, should closely estimate the ELM (ETV = 0.984 ELM). Experimental measurements of ETV have shown a very good correlation with ELM, with a tendency for overestimation in normal lungs and underestimation in severely edematous lungs. In contrast to previous measurements using isotopic water methods, thermal-dye measurements have revealed that the estimation of ELM by ETV in severe edema (alveolar flooding) does not plateau. The limitations of the thermal-dye technique reflect the evenness of lung perfusion. Depending on their size and number, emboli produce perfusion defects and reduce ETV. Airway injury also reduces ETV, apparently by redistribution of blood flow. Alterations of ETV by hemodynamic factors suggest that reduction in perfusion pressure may be more significant than changes in flow, although more data are needed. Atelectasis without a reduction in blood flow does not decrease ETV. PEEP may increase ETV when lung injury is not uniform, perhaps by redistributing blood flow, and this maneuver may be useful in detecting underestimation of ELM. Position of the thermistor produces the greatest degree of variability by distorting the thermodilution curve and prolonging the MTT. This results in an increased ETV and an overestimation of ELM. In laboratory studies, the measurements of ETV can be validated by gravimetric analyses of lung water. Since this method of validation is not possible in clinical studies, measurements of ETV in patients must be interpreted in light of limitations demonstrated in the laboratory. Suggestions for avoiding the most common errors in measuring ETV are listed in Table 3.
Blood Pressure↗
Black and white psychiatrists: therapy with blacks.
This paper is one of a series of reports on the findings of a survey on psychotherapy with nonpsychotic black patients and black and white psychiatrists. The responses of the two groups of psychiatrists are presented and analyzed, focusing on their clinical experiences with their black patients. The differences between the two groups of psychiatrists on the presenting problems, unconscious conflicts, and role of racism with their black patients are among the clinical areas examined and discussed.The psychiatrists treated similar types of black male and female patients; however, the survey results indicate that a large proportion of white psychiatrists have little or no experience treating blacks. Although there were more similarities than differences in responses of black and white psychiatrists to clinical questions, there were differences in the frequency and order in which problems were rated. For example, both groups of psychiatrists rated developing new coping mechanisms as the most frequent problem in stages of the treatment process for both sexes. However, white psychiatrists rated a majority of the problems in stages of the treatment process as occurring more frequently than did black psychiatrists. The findings substantiate difficulties with clinical treatment by a therapist who has a racial, ethnic, or cultural background different from that of his patient.
Adult↗
Effect of edema and hemodynamic changes on extravascular thermal volume of the lung.
The extravascular thermal volume of the lung (ETV) has been measured in dogs as the difference between mean transit time (t) volumes for heat and indocyanine green dye across the pulmonary circulation, calculated as the product of thermal dilution cardiac output (CO) and the difference in t for aortic indicator-dilution curves generated by right and left atrial injections. ETV measurements were compared with the extravascular lung mass (ELM): in 21 normal dogs, ETV/ELM = 1.11 +/- 0.14 (SD); in 17 dogs with hydrostatic pulmonary edema (up to 21 g/kg), ETV/ELM = 0.90 +/- 0.11; and in 27 dogs with alloxan pulmonary edema (up to 51 g/kg); ETV/ELM = 0.93 +/- 0.13. For all 65 dogs the mean ETVELM was 0.98 +/- 0.15, and the liner regression was ETV (ml/kg) = 0.90 ELM (g/kg) + 0.86 +/- 2.25 (SEE; r = 0.96). Calculations based on measurements of lung specific heat predict that ETV/ELM should equal 0.984. With acute changes in pulmonary hemodynamics, ETV was reduced by reductions in pulmonary arterial pressure (Ppa) sufficient to produce zone 1 conditions at the top of the lung. However, ETV was not affected by increases in CO (mean = 50%) produced by nitroprusside or by increases in Ppa and pulmonary blood volume (mean = 27%) produced by partial mitral valve obstruction. Distortion of the thermal dilution curve due to position of the arterial thermistor appears to be the greatest source of variability and overestimation. Simultaneous measurements from pairs of thermistors differed by 14% (range 0.4-50%).
Animals↗
Type of lung injury influences the thermal-dye estimation of extravascular lung water.
To determine the effect of the type of lung injury on the thermodilution estimation of extravascular lung water, we produced pulmonary edema in 25 anesthetized dogs by injection of alloxan or alpha-naphthylthiourea (ANTU) into the pulmonary circulation or by instillation of hydrochloric acid (HCI) into the airway. HCl injury was bilateral, unilateral with tidal volume equal in each lung, or unilateral with equal airway pressure. Extravascular thermal volume (ETV) was measured at base line and 4 h after lung injury, and the final measurement was compared with the postmortem determination of extravascular lung mass (ELM). In 11 of 15 animals with HCl injury final ETV was less than the base-line measurement. The ratio of final ETV to ELM for all HCl animal (group I) averaged 0.31 +/- 0.14, which was different from the value for animals with alloxan or ANTU injury (group II), 1.04 +/- 0.14 (P less than 0.01). Extravascular lung water per gram of blood-free dry tissue was not different for the two groups (8.1 +/- 1.2 and 8.7 +/- 2.6 for I and II, respectively), indicating equally severe lung injury; however, shunt fraction was less in group I (P less than 0.01). ETV/ELM correlated with the shunt fraction for group I (r = 0.70) but not for group II (r = 0.32). These findings indicate that ETV underestimates lung water after HCl injury due to the redistribution of pulmonary blood flow away from edematous areas.
Alloxan↗
Liquid and lyophilized quality-control materials compared for use in continuous-flow analysis.
Using a Technicon SMAC continuous-flow instrument, we compared a liquid quality-control material ("Decision level 3," Beckman) with two different lyophilized quality-control materials. The variances for 19 analytes in the three materials were significantly greater for Decision than for the Ortho Abnormal and the Omega II lyophilized control sera (p less than 0.00001 for each comparison by the omnibus test). The imprecision for Decision was not due to incomplete mixing or carryover. The viscosity of Decision, however, was more than twice that of the two lyophilized control sera or of pooled human serum.
Autoanalysis↗