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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Electron microscopic findings are reported on the localization and fine structure of glycolipid inclusions in different organs (heart, kidney, lymph nodes, arterial blood vessels, pancreas) in Fabry's disease in a female. The intracellular and extracellular inclusions were made up of multilamellar membraneous systems in concentric, excentric, and parallel arrangement. This fine structure is characteristic of liquid-crystalline phases of phospholipid-water systems. The same type of inclusions are found in the internal organs of heterozygotic women as in homozygotic men. The relationship between the glycolipid inclusions and the lysosomes is discussed.
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PMID:[Electron microscopic observations in internal organs in morbus Fabry (author's transl)]. 20 16

The glycolipid storage material in Fabry's disease was studied by electron microscopy of thin-sectioned (TS) and freeze-fractured (FF) specimens. In the kidney all deposits were found to be located in lysosomes, arranged as lamellar stacks. Deposits in the heart consisted of intracytoplasmic concentric whirls or folded lamellar structures. High resolution TS micrographs disclosed various defects in the lamellar structure. For stabilization, such defects require additional amphiphilic, surface-active molecules. These molecules could interact with other cellular constituents. The lamellar periodicity of the deposits in FF specimens was determined by reconstruction of the three-dimensional fracture face by digital image analysis. Homogeneous multilamellar deposits exhibited a periodicity of 14-15 nm, contrasting with the conventional estimates of 4-5 nm on TS micrographs. This difference is explained by better preservation of the physiologic hydrated state in FF specimens, with 1 vol of lipids binding 2 vol of water. Inhomogeneous structures with an even higher state of hydration included water lenses between the sheets. The strong hydration obviously contributes to the enlargement of the intracellular glycolipid deposits.
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PMID:Glycolipid storage material in Fabry's disease: a study by electron microscopy, freeze-fracture, and digital image analysis. 211 88

Sensor dislocation of water perfused side-hole manometry catheters during longer periods of examination, as well as heavy expenditure on equipment and personal, are disadvantages of perfusion manometry. Such catheters have contributed substantially to the attempt to become independent of water as a transmitter medium in manometric pressure sensors for the upper gastrointestinal tract. Using the principle of the mirror interferometer of Fabry and Perot, we have developed and manufactured a fibre-optic Fabry Perot Sensor (FFP) which records local asymmetric pressure with constant sensitivity over the sensor surface area of 40 mm length. The FFP signal was compared with the pressure measured with a conventional four-side-hole perfusion catheter. The signal corresponding to long-term basal pressure of the lower oesophageal sphincter (LOS) varied over a normal range, and the signal presenting the pressure in the tubular oesophagus had a normal range determined from 15 healthy volunteers. Due to the phase modulation of its laser, the FFP is nearly independent of substantial artefacts.
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PMID:The fibre Fabry Perot sensor. A long-term manometry sensor for quantitative intraluminal pressure measurement of the gastrointestinal tract. 227 74

A measure of the elastic properties of tissue can be found from the propagation of sound in the tissue. Longitudinal sonic velocities were measured for mineralized turkey leg tendon (density 1.50 g/cc), deer antler (1.77 g/cc) and cow tibia (2.05 g/cc) in the 10 GHz frequency regime by means of Brillouin light scattering using a nine pass Fabry-Perot interferometer. Wet, air dried, mineralized and demineralized specimens were tested. Sonic velocity in each tissue increased with mineral content and decreased when the tissue was wet. All wet values are higher than for wet rat tail tendon collagen, axially and radially, but with considerably less anisotropy. The results are interpreted to indicate that bone matrix collagen is more highly crosslinked than tail tendon collagen. The loss of anisotropy is taken to correspond to a much higher crosslinking density between adjacent collagen molecules in mineralized tissue compared to rat tail tendon. The axial sonic velocity of dried rat tail tendon is almost that for low density dried mineralized tissue and greater than the radial sonic velocity of these tissues, but the radial sonic velocity for dried rat tail tendon is much lower, again corresponding to less crosslinking in this tissue. Longitudinal modulus, K, is defined as the tissue density times the square of the velocity. The compliance, 1/K, was found to be a linear function of density for each of the four conditions. It suggests that a Reuss formalism describes the elastic properties. Since the difference between the compliance for wet and dry tissue is also a linear function of density, the effect of water on the compliance is additive. The axial sonic velocity for cow bone is essentially constant over a frequency range spanning 10 orders. Presumably the axial sonic velocity is controlled by the continuity of the collagen fibers lying along the bone axis. The radial velocity decreases by 30% over this frequency range, probably due to the many levels of structure observed in long bone like osteons, Haversian canals and blood vessels, as well as internal surfaces like cement lines and between lamellae. The sonic anisotropy of hard tissues decreases considerably with increasing frequency. While rat tail tendon collagen is very anisotropic both sonically and optically, hard tissues whether wet, dry, mineralized or demineralized show much less anisotropy. The optical index of refraction, both axially and radially, was found by Brillouin scattering for the air dried demineralized tissues. A close match was found between optical and sonic anisotropy for all the demineralized tissues.
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PMID:Studies of compact hard tissues and collagen by means of Brillouin light scattering. 237 22

The rotational spectrum of (CH3OH)2 has been observed in the 8 to 24 GHz region with a pulsed-beam Fabry-Perot cavity Fourier-transform microwave spectrometer. Previously we demonstrated that each transition of the a-type R(J), Ka = 0 is split into 15 states of the 16 theoretically expected states by tunneling motions. Here we show that the K = 1 states are split into the 16 expected states through the assignment of the Ka = 1 a-type transitions and DeltaKa = 1 b-type transitions. The internal-rotation analysis of the two inequivalent methyl groups presented here was guided by the previous experimental observations and theory for multidimensional tunneling, which predicts 16 tunneling components for each R(J) transition from 25 distinct tunneling motions. The effective barrier to internal rotation for the donor methyl group of (CH3OH)2 is V3 = 183.0 cm-1, and is one-half of the value for the methanol monomer (370 cm-1), while the barrier to internal rotation of the acceptor methyl group is 120 cm-1, one-third of the methanol monomer. The structure of the methanol dimer complex is similar to that of water dimer with a hydrogen bond distance of 1.96(2) A and tilt of the acceptor methanol of 77(2)degrees from the O-H-O axis (one standard deviation uncertainty). This structure shows good agreement with the angular orientation of the methyl groups derived in the internal-rotation analysis. Copyright 1997 Academic Press. Copyright 1997Academic Press
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PMID:The Microwave Spectrum of the Methanol Dimer for K = 0 and 1 States 934 99

In Fabry disease, an X-linked alpha-galactosidase A deficiency, painful crises and limb paresthesias are possibly linked to thermal exposure. Small nerve fiber function has not yet been tested after cold challenge. In two Fabry patients (15 and 17 years old), their heterozygote mother, their healthy sister, and eight controls, we determined warm and cold perception thresholds at the dorsal foot and the lower medial calf (method of limits, Somedic-Thermotest), before and 1, 5, 10 and 15 min after 30 s immersion of one leg into 5 degrees C water. Discomfort was rated from 0 to 10. At baseline, thermal thresholds of all participants were normal. In contrast to controls, the patients tolerated 30 s cold stimulation only with interruptions. The mother aborted stimulation after 6 s because of pain. The patients and their mother reported intense burning pain and numbness during and after stimulation. After cold exposure, thermal sensation was highly abnormal for 20 min in one and 80 min in the other brother. In controls, thermal thresholds were somewhat elevated after stimulation but normalized within 10.0+/-4.6 min. Discomfort during cold exposure was rated 8-10 by the patients and their mother, but 3-5 by the healthy persons. We assume that glycolipid accumulation in cutaneous and vasa nervorum vessels as well as small nerve axons accounts for skin and small fiber malperfusion during cold induced vasoconstriction. Transitory ischemia initiated burning pain and prolonged small fiber dysfunction.
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PMID:Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. 1066 42

We present the design methodology for a sensor that can nonintrusively monitor target gas concentration levels in a power plant exhaust flow. The measurement is based on radiative emission by rovibrational transitions that are well isolated from emission features of other constituents and requires both moderate spectral resolution (typically 1 nm or below) and relatively high optical throughput. A Fabry-Perot interferometer provides this capability, and its conceptual design is discussed at length. High-temperature radiative emission of nitric oxide in a background of water was used as a sample system for the design of a prototype Fabry-Perot interferometer. Predictions for the instrument are a minimum resolvable NO column density of 100 parts per million times meter based on a simple background subtraction scheme with a gas temperature of 800 K. Improved order sorting can dramatically lower this minimum. The prototype instrument was calibrated and tested with a laboratory simulator; results are presented and compared with predictions.
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PMID:Design methodology for a Fabry-Perot interferometer used as a concentration sensor. 1202 72

We present what is to our knowledge the first near-infrared diode-laser-based absorption spectrometer that is suitable for simultaneous in situ measurement of carbon monoxide, water vapor, and temperature in the combustion chamber (20-m diameter, 13-m path length) of a 600-MW lignite-fired power plant. A fiber-coupled distributed-feedback diode-laser module at 1.56 microm served for CO detection, and a Fabry-Perot diode laser at 813 nm was used to determine H2O concentrations and temperature from multiline water spectra. Despite severe light losses (transmission, <10(-8)) and strong background radiation we achieved a resolution of 1.9 x 10(-4) (1sigma) fractional absorption, equivalent to 200 parts in 10(6) by volume of CO (at 1450 K, 10(5) Pa) with 30-s averaging time.
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PMID:Simultaneous in situ measurement of CO, H2O, and gas temperatures in a full-sized coal-fired power plant by near-infrared diode lasers. 1271 44

Fabry disease is an inborn error of glycosphingolipid metabolism caused by the deficiency of lysosomal alpha-galactosidase A (alpha-Gal A). We have established transgenic mice that exclusively express human mutant alpha-Gal A (R301Q) in an alpha-Gal A knock-out background (TgM/KO mice). This serves as a biochemical model to study and evaluate active-site specific chaperone (ASSC) therapy for Fabry disease, which is specific for those missense mutations that cause misfolding of alpha-Gal A. The alpha-Gal A activities in the heart, kidney, spleen, and liver of homozygous TgM/KO mice were 52.6, 9.9, 29.6 and 44.4 unit/mg protein, respectively, corresponding to 16.4-, 0.8-, 0.6- and 1.4-fold of the endogenous enzyme activities in the same tissues of non-transgenic mice with a similar genetic background. Oral administration of 1-deoxygalactonojirimycin (DGJ), a competitive inhibitor of alpha-Gal A and an effective ASSC for Fabry disease, at 0.05 mM in the drinking water of the mice for 2 weeks resulted in 13.8-, 3.3-, 3.9-, and 2.6-fold increases in enzyme activities in the heart, kidney, spleen and liver, respectively. No accumulation of globotriaosylceramide, a natural substrate of alpha-Gal A, could be detected in the heart of TgM/KO mice after DGJ treatment, indicating that degradation of the glycolipid in the heart was not inhibited by DGJ at that dosage. The alpha-Gal A activity in homozygous or heterozygous fibroblasts established from TgM/KO mice (TMK cells) was approximately 39 and 20 unit/mg protein, respectively. These TgM/KO mice and TMK cells are useful tools for studying the mechanism of ASSC therapy, and for screening ASSCs for Fabry disease.
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PMID:Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. 1551 32

The microwave spectrum of the water-carbonyl sulfide complex H(2)O-OCS was observed with a pulsed-beam, Fabry-Perot cavity Fourier-transform microwave spectrometer. In addition to the normal isotopic form, we also measured the spectra of H(2)O-S(13)CO, H(2)O-(34)SCO, H(2) (18)O-SCO, D(2)O-SCO, D(2)O-S(13)CO, D(2)O-(34)SCO, HDO-SCO, HDO-S(13)CO, and HDO-(34)SCO. The rotational constants are B = 1522.0115(2) MHz and C = 1514.3302(2) MHz for H(2)O-SCO; B = 1511.9153(5) MHz and C = 1504.3346(5) MHz for H(2)O-S(13)CO; B = 1522.0215(3) MHz and C = 1514.3409(3) MHz for H(2)O-(34)SCO; B = 1435.9571(3) MHz and C = 1429.1296(4) MHz for H(2) (18)O-SCO, B = 1409.6575(5) MHz and C = 1397.9555(5) MHz for D(2)O-SCO; B = 1399.8956(3) MHz and C = 1388.3543(3) MHz for D(2)O-S(13)CO; B = 1409.6741(24) MHz and C = 1397.9775(24) MHz for D(2)O-(34)SCO; (B+C)/2 = 1457.9101(2) MHz for HDO-SCO; (B + C)/2 = 1448.0564(4) MHz for HDO-S(13)CO; and (B+C)/2 = 1457.9418(15) MHz for HDO-(34)SCO, with uncertainties corresponding to one standard deviation. The observed rotational constants for the sulfur-34 complexes are generally higher than those for the corresponding sulfur-32 isotopomers. The heavier isotopomers have smaller effective moments of inertia due to the smaller vibrational amplitude of the (34)S-C vibration (zero point) as compared to the (32)S-C, making the effective O-(34)S bond slightly shorter. Stark effect measurements for H(2)O-SCO give a dipole moment of 8.875(9)x10(-30) C m [2.6679(28) D]. The most probable structure of H(2)O-SCO is near C(2v) planar with the oxygen of water bonded to the sulfur of carbonyl sulfide. The oxygen-sulfur van der Waals bond length is determined to be 3.138(17) A, which is very close to the ab initio value of 3.144 A. The structures of the isoelectronic complexes H(2)O-SCO, H(2)O-CS(2), H(2)O-CO(2), and H(2)O-N(2)O are compared. The first two are linear and the others are T shaped with an O-C/O-N van der Waals bond, i.e., the oxygen of water bonds to the carbon and nitrogen of CO(2) and N(2)O, respectively.
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PMID:Microwave Fourier transform spectrum of the water-carbonyl sulfide complex. 1554 61


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