Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Knowledge concerning SS (homozygous for the beta s gene) red blood cell (RBC) heterogeneity has been useful for understanding the pathophysiology of sickle cell anemia. No equivalent information exists for RBCs of the compound heterozygote for the beta s and beta c genes (SC) RBCs. These RBCs are known to be denser than most cells in normal blood and even most cells in SS blood (Fabry et al, J Clin Invest 70:1284, 1981). We have analyzed the characteristics of SC RBC heterogeneity and find that: (1) SC cells exhibit unusual morphologic features, particularly the tendency for membrane "folding" (multifolded, unifolded, and triangular shapes are all common); (2) SC RBCs containing crystals and some containing round hemoglobin (Hb) aggregates (billiard-ball cells) are detectable in circulating SC blood; (3) in contrast to normal reticulocytes, which are found mainly in a low-density RBC fraction, SC reticulocytes are found in the densest SC RBC fraction; and (4) both deoxygenation and replacement of extracellular Cl- by NO3- (both inhibitors of K:Cl cotransport) led to moderate depopulation of the dense fraction and a dramatic shift of the reticulocytes to lower density fractions. We conclude that the RBC heterogeneity of SC disease is very different from that of SS disease. The major contributions of properties introduced by HbC are "folded" RBCs, intracellular crystal formation in circulating SC cells, and apparently a very active K:Cl cotransporter that leads to unusually dense reticulocytes.
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PMID:The unique red cell heterogeneity of SC disease: crystal formation, dense reticulocytes, and unusual morphology. 191 87

We present what is to our knowledge the first use of light-emitting diodes (LEDs) as light sources for long-path differential optical absorption spectroscopy (LP-DOAS) measurements of trace gases in the open atmosphere. Modern LEDs represent a potentially advantageous alternative to thermal light sources, in particular to xenon arc lamps, which are the most common active DOAS light sources. The radiative properties of a variety of LEDs were characterized, and parameters such as spectral shape, spectral range, spectral stability, and ways in which they can be influenced by environmental factors were analyzed. The spectra of several LEDs were found to contain Fabry-Perot etalon-induced spectral structures that interfered with the DOAS evaluation, in particular when a constant temperature was not maintained. It was shown that LEDs can be used successfully as light sources in active DOAS experiments that measure NO2 and NO3 near 450 and 630 nm, respectively. Average detection limits of 0.3 parts in 10(9) and 16 parts in 10(12) respectively, were obtained by use of a 6 km light path in the open atmosphere.
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PMID:Applicability of light-emitting diodes as light sources for active differential optical absorption spectroscopy measurements. 1657 79