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Biomedical subjects

M E Miller

Publications and source records attributed to M E Miller.

At least 19 recordsLinked to original sources
PubMed1992

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis.

We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9,t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.

Adult↗
PubMed1992

Gigantic osteoma of the mandible: report of a case.

A case of a very large solitary osteoma of the right posterior mandible in a 22-year-old man is presented. The tumor was asymptomatic despite its location and large size. It was removed via an extraoral Risdon approach without complication. The importance of differentiating a large solitary osteoma from a parosteal osteogenic sarcoma is emphasized. Any patient presenting with a solitary osteoma also should be evaluated for Gardner's syndrome.

Adult↗
PubMed1992

Differences across sexual orientation on HIV risk behaviours in injecting drug users.

Injecting drug users (IDUs) play a disproportionate role in the spread of HIV given their injecting and sexual contacts, and thereby act as conduits between these risk groups. We investigated differences in risk behaviour and HIV seroprevalence in a Sydney sample of 1,245 IDUs. Significant differences were observed across sexual orientation in HIV serostatus for males, with homosexual men having the highest HIV seroprevalence rate (35%), bisexual men intermediate (12%) and heterosexual men lowest (3%). Sexual HIV risk behaviours were lowest for homosexual men, intermediate for bisexual men, and highest for heterosexual men in the case of condom use: however, for numbers of partners, seroprevalence, and anal sex the trends were reversed. There were no differences across sexual orientation for either sex for injecting drug risk behaviours. Both male and female respondents reported having more than 50% of sexual contacts while under the influence of drugs. This study suggests that risk reduction in the sexual domain has not generalized to the injecting risk domain regardless of sexual orientation, and demonstrates that sexual risk behaviours in IDUs are lowest in homosexual, intermediate in bisexual, and highest in heterosexual IDU men.

Adult↗
PubMed1992

Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.

A small percentage of apparent sudden infant death syndrome (SIDS) victims may have an unsuspected metabolic disorder. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of fatty acid oxidation that has been the most common such metabolic disorder found in series of SIDS victims. A single mutation in MCAD deficiency has been recently described (G-985) that accounts for approximately 90% of MCAD deficiency mutations. We studied the hypothesis that heterozygosity or homozygosity for this specific MCAD deficiency mutation might be associated with SIDS. DNA was extracted from the paraffin-embedded autopsy tissues of 67 victims of SIDS in Monroe County, NY who died between 1984 and 1989. Using the polymerase chain reaction/NcoI digestion method, we found no G-985 homozygotes and three (4.5%) G-985 heterozygotes. In 70 newborn controls, there were no G-985 homozygotes and one (1.4%) heterozygote. Although the frequency of G-985 heterozygotes was slightly greater than in our control group, it was not statistically different. We conclude that the specific MCAD deficiency mutation G-985 is not strongly associated with SIDS and that MCAD deficiency probably does not make a significant contribution to the etiology of SIDS.

Acyl-CoA Dehydrogenase↗
PubMed1992

Decisions without consequences: cost control and access in state Medicaid programs.

States have implemented a number of strategies to provide services, pay providers, and control Medicaid spending. We test the effects of some differences in state Medicaid policies on program enrollees' access to and use of health care services. Logistic and OLS regression analyses of cross-sectional data indicate that these policies exert significant influences on enrollees' access to health services but have a weaker direct effect on their use of them. However, we find evidence that utilization is affected indirectly (through increased access) by state policy decisions. Somewhat surprisingly, Medicaid policies designed to contain costs by limiting utilization appear to affect neither access nor utilization. Medicaid enrollees have greater access to a private physician in states with higher physician reimbursement and additional Medicare insurance for their enrollees. Other nonpolicy variables with pronounced impacts on access to private office physicians include race and the availability of private insurance.

Cost Control↗
PubMed1992

Physician charges in the hospital. Exploring episodes of care for controlling volume growth.

Medicare physician payments are growing rapidly. At least 40% of the annual growth is due to volume increases. Reforms passed in 1989 include volume performance standards that attempt to control volume by linking future physician fee increases to volume growth. There is concern that defining the entire nation as the risk pool will result in an unworkable volume performance standard. One way to improve incentives is to create a separate volume performance standard for in-hospital physician services, define bundles of services related to the hospital stay, and place the medical staff of the hospital at risk for volume growth. To forestall the unbundling of services outside the stay, windows could be defined around the stay. This study reports physician services during the stay and in windows around the stay. In so doing, the study creates the knowledge base necessary to design better volume control policies and judge among alternative window definitions. Using 1987 data, this study presents average physician charges by type of service during: 1) the hospital stay; and 2) 1-month windows before and after the stay. For all admissions, 85% of charges occur during the stay and 15% occur during the windows (windows for surgical admissions and medical admissions are 9% and 23%, respectively). Pre- and postwindows are roughly symmetrical and average charges per day gradually increase before the admission and decline after discharge. A small physician panel commented on the clinical appropriateness of the one month windows. The panel indicates that defining in-hospital episodes of physician care is feasible.

Ambulatory Surgical Procedures↗
PubMed1979

Uterine malformation and fetal deformation.

Beyond the enhanced miscarriage and prematurity associated with the structurally abnormal uterus, we have found 14 examples of fetal deformation secondary to uterine malformation with its consequent uterine constraint. In several instances the constellation of deformations had been misinterpreted as a multiple malformation disorder. One patient died of pulmonary hypoplasia, but all the survivors showed restoration toward normal form postnatally. Recognition of the basic problem allows for surgical reconstruction of the uterus, which is generally accompanied by an improved outlook for subsequent pregnancies.

Congenital Abnormalities↗
PubMed1979

Comparison of microchromatography and electrophoresis with elution for hemoglobin A2 (Hb A2) quantitation.

Microcolumns prepared in the authors' laboratory, two commercial microchromatography kits, and electrophoresis with elution were compared for Hb A2 quantitation. Day-to-day imprecision of microchromatographic methods was similar (CV 4.7--6.6%) and somewhat less than electrophoresis with elution (CV 8.0--9.1%). Both commercial kits showed variable imprecision in different lots; one lot of Kit B gave erratic results due to resin leakage. From 49 patient specimens, Kit A microcolumns and those of the authors identified the same 14 patients with an elevated percentage of Hb A2 and showed good correlation (P = 0.90), although Kit A showed constant bias toward higher values. Electrophoresis with elution resulted in a false-positive and a false-negative value, did not correlate well with microcolumns (P = 0.78 and 0.76), and showed proportional bias toward lower values for an elevated percentage of Hb A2. Commercial kits were convenient, relatively quick, and cost-effective. Frozen, stabilized hemolysates performed well for quality control.

Blood Protein Electrophoresis↗
PubMed1979

Modulation of erythropoietin concentrations by manipulation of hypercarbia.

The present studies were done to determine whether preventing the respiratory alkalosis, which is known to occur with acute "hypoxic" stimuli, would lead to alterations in plasma concentrations of erythropoietin (Ep). Rats were subjected to two acute stresses, hypoxia and blood loss, separately and in combination, with and without the added stress of hypercarbia. Hypercarbia in all experimental groups was associated with a decrease in plasma concentrations of Ep. This reduction in plasma Ep with hypercarbia could not be fully explained by the higher arterial pO2S or p50S of the hypercarbic rats. Hypercarbia may have indirectly suppressed Ep production by increasing blood flow to the site of Ep production. Alternatively, the cell of origin of Ep could be sensitive to changes in pH and/or PCO2. It was further demonstrated that neither the onset nor the degree of reticulocytosis could be predicted by the plasma Ep concentrations. It is likely that the removal of red blood cells led to a decrease in marrow transit time with the early emergence of reticulocytes after acute blood loss.

Anemia↗
PubMed1979

Conotruncal malformation complex: examples of possible monogenic inheritance.

Two families are described in which there is possible monogenic inheritance of congenital cardiac defects within the spectrum of faulty conotruncal septation (CTS). Evidence for a genetic control of conotruncal septation arises from genetic and embryologic studies of similar defects in the Keeshond dog model, the excess of sibship pairs with conotruncal septation defects in sibship pairs with congenital heart diseases, and previously reported pedigrees of families with multiple affected individuals with conotruncal septation defects. It is suggested that in the small number of cases of congenital cardiac defects in which there is a strong family history for CTS defects, a higher recurrence risk should be considered rather than the usual polygenic recurrence risk of 3% that is usually given in such situations.

Adult↗
PubMed1979

The effects of humoral factors on amplification of nonrecognizable erythrocytic and granulocytic precursors.

These studies were to evaluate the effects of humoral factors on amplification of nonrecognizable erythrocytic and granulocytic precursors by the in vivo plasma clot diffusion chamber and the in vitro plasma clot culture methods. Changes in the plasma erythropoietin levels in the reticulocyte concentration and hematocrits of irradiated and nonirradiated Long-Evans rats exposed to hypoxia were also determined. While erythropoietin plasma concentrations appeared to affect BFU-E and CFU-E growth, results suggest erythropoietin may not be the sole regulator of red cell production and that inhibitors of chalone-like mechanisms may be involved. Measurements made on granulocyte precursors treated with colony stimulating factor (CSF) containing L-cell-conditioned medium revealed granulocytic colonies and burst-like formations similar to those seen for erythrocytic growth. There is strong evidence suggesting that CSF is a regulator of granulopoiesis; however, it is not the sole regulator and it appears that inhibitors may play an in vivo role. Growth of colonies with cell numbers not a power of 2 implies either asymmetric mitosis due to loss of genetic information required for continuing division, or differences in concentrations of, or ability to recognize, inhibitory factors. These possibilities are examined in the light of results from in vivo and in vitro culture techniques.

Animals↗