CLINICOPATHOLOGIC CONFERENCE: BARTH SYNDROME

A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).     

Transcutaneous absorption of vitamin A in newborn rats

Very low birth weight neonates have low tissue concentrations of vitamin A, which may contribute to the development of lung disease. These infants, however, may not receive vitamin A supplementation for several days after birth. We determined if the relatively permeable skin of a newborn could be used to administer vitamin A. 25 control rat pups were killed and lungs and livers were collected. 20 microl (1,000 IU) of retinyl palmitate were applied to the skin surface of an additional 50 two-day-old pups. At 2.5 and 5 h after application, 25 pups were killed, and lungs and livers were collected. Concentrations of retinyl palmitate and retinol were significantly higher in the lungs of pups 5 h after administration of vitamin A compared with controls. There were no differences in concentrations of retinyl palmitate or retinol in livers. We conclude that transcutaneous administration may be an effective means of delivering vitamin A to the lungs of newborn rats.     

Successive development of soil ecosystems at abandoned coal-ash landfills

The main goal of the present study was to determine the effect of the native vegetation on the successive development of the soil ecosystem at abandoned coal-ash landfills of the Angren coal-fired power plant in Uzbekistan. Two different landfills (one not in use for 3 years, termed newer, and the other not in use for 10 years, termed older) with different degrees of vegetation cover were chosen to assess the time and vegetation effects on soil biota and habitat development. The soil biotic structure, including soil microorganisms and soil free-living nematode communities, was investigated both at open plots and under different native plants at the coal-ash landfill area. The observed soil microorganisms were found to be the most important component of the observed ecosystems. Total abundance, biomass, species, trophic and sexual diversity of soil free-living nematodes, along with fungi and organic-matter content, were found to be correlated with trace metals. The nematode trophic and species abundance and diversity increased from the newer toward the older coal-ash landfills. The sex ratio of the nematode communities was found to be dependent on the environmental conditions of the study area, with the males being the most sensitive nematode group. All applied ecological indices confirmed that open landfill plots distant from plants are the most unfavorable areas for soil biota. In that respect, the native plants Alhagi maurorum Desv. and Tamarix sp. were found to be important environmental components for the natural remediation of a soil ecosystem in the coal-ash landfill area.     

Four new recurring translocations in non-Hodgkin lymphoma

The identification of recurring chromosomal translocations has provided clues to the gene regions important in lymphoma development. Among 157 patients with non-Hodgkin lymphoma studied by cytogenetic analysis, four new recurring translocations have been identified--t(8;9) (q24;p13), t(11;18)(q21;q21), t(14,15)(q32;q15), and an unbalanced translocation giving rise to der(22)t(17;22) (q11;p11). Each translocation appeared twice. The t(11;18) was the only karyotypic abnormality in the two patients with it, and the t(14;15) was the sole karyotypic abnormality in one patient. All translocations were found in B-cell malignancies and were associated with both nodal and extranodal disease. Among the regions affected, only the immunoglobulin heavy- chain gene MYC, and BCL2, have thus far been associated with lymphoma. The breakpoint sites identified by these translocations warrant further investigation at the molecular level.     

Activation of factor VII during alimentary lipemia occurs in healthy adults and patients with congenital factor XII or factor XI deficiency, but not in patients with factor IX deficiency

Factor VII activity (FVIIc), a risk marker for coronary heart disease, is increased during postprandial lipemia. Factor VII activation accompanies lipolysis of triglyceride-rich lipoproteins, but the nature of this association and whether it is causal remain uncertain. To explore this issue, four patients with homozygous factor XII deficiency, four with complete factor XI deficiency, six with factor IX deficiency, and their respective age- and sex-matched controls were given two isocaloric dietary regimens, one providing on average 136 g fat and the other 19 g fat. Blood was taken before breakfast, immediately before lunch at 195 minutes, and at completion of the study at 390 minutes. All samples for each subject and matched control were assayed as one batch for FVIIc, activated factor VII, and factor VII antigen (FVIIag). Activation of factor VII was observed with the high- fat regimen but not with the low-fat regimen in all controls, factor XII-deficient patients, and factor XI-deficient patients. No factor VII activation was observed during either regimen in factor IX-deficient patients, but a normal postprandial responsiveness of factor VII to dietary fat was restored in one patient who replicated the study after factor IX therapy. Plasma FVIIag was not altered postprandially in either regimen in any group of patients or controls. Factor IX apparently plays an obligatory role in the postprandial activation of factor VII, although the mechanism remains to be determined.