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

A purine degradation study, thermography and near infrared spectroscopy of the extremities were performed on 2 young males with Fabry disease and 2 healthy controls. Two-minute semi-ischemic forearm exercise caused a distinct increase in lactate in all subjects, but venous hypoxanthine and ammonia were greatly increased only in the Fabry patients, suggesting a relatively hypoxic state of the extremities. Limb thermograms of the patients revealed glove and stocking type disturbance at rest. Poor recovery of the skin temperature of the hands and forearms after exercise was observed in the patients, but the sharp increase in oxygenated hemoglobin after total ischemia was found to be normal or near infrared spectroscopy. Neurotropin showed an analgesic effect, i.e. a strong and selective heat-productive action on the painful lesions, and suppressed the hypoxanthine level after exercise in 1 patient. Although the pathophysiology of the pain in Fabry disease has not been clearly elucidated, a relatively hypoxic state with peripheral hypothermia might play an important role in triggering of a painful attack or chronic burning paresthesia.
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PMID:Relative hypoxia of the extremities in Fabry disease. 145 89

Continuous, broad, and single-mode wavelength tuning of thermoelectrically cooled short-pulse quantum-cascade lasers is demonstrated with a combination of coarse grating tuning and fine phase tuning of the gain element. This approach overcomes the problem of a poor facet antireflection coating of the gain chip by shifting a Fabry-Perot longitudinal mode to coincide with the desired grating-selected wavelength. The 9-microm laser was tested with NH3 gas absorption and showed fine frequency tuning at a rate of 31 MHz/step and a time-averaged linewidth of 500-750 MHz. The total tuning range was 9.08-9.36 microm and was limited only by the intrinsic gain of the device.
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PMID:Broadband, continuous, and fine-tune properties of external-cavity thermoelectric-stabilized mid-infrared quantum-cascade lasers. 1295 34

We have measured the output parameters of a 10.3-microm pulsed distributed-feedback (DFB) quantum cascade (QC) laser manufactured by Alpes Lasers and intended for high-sensitivity detection of ammonia and ethylene. The laser beam was collimated with an AR-coated aspheric ZnSe lens with focal length of 11.6mm and clear aperture of 16.5mm. Near- and far-field distributions of the laser emission were recorded with an infrared imaging camera. The fast-and slow-axis laser beam divergences were measured to be 1.2 and 1.4 mrad (FWHM), respectively. The divergence was found to be increasing with injection current. An air-spaced Fabry-Perot interferometer with free spectral range of 0.05 cm(-1) was used to measure the frequency tuning rates of the laser. The laser was tuned by either heat sink temperature, injection current or pulse repetition rate with rates of approximately -8 x 10(-2)cm(-1)K(-1), -7 x 10(-2)cm(-1)A(-1) and -9 x 10(-4)cm(-1)kHz(-1), respectively. The laser frequency decreased linearly with a rate of 10(-2)cm(-1)ns(-1) ( approximately 300 MHzns(-1)) for laser pulses varied from 10 to 50 ns, and the frequency chirp rate was found to decrease for longer laser pulses.
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PMID:Characterization of a 10.3-microm pulsed DFB quantum cascade laser. 1650 90

Hereditary metabolic diseases may appear during adolescence or young adulthood, revealed by an apparently unexplained neurological or psychiatric disorder. Certain metabolic diseases respond to specific treatments and should be identified early, particularly in emergency situations where rapid introduction of a treatment can avoid fatal outcome or irreversible neurological damage. The main diseases leading to an acute neurological syndrome in the adult are urea cycle disorders, homocysteine metabolisms disorders and porphyria. More rarely, Wilson's disease, aminoacid diseases, organic aciduria, or pyruvate dehydrogenase deficiency, beta-oxidation disordes or biotin metabolism may be involved. Most emergency situations can be screen correctly with simple tests (serum ammonia, homocysteine, lactate, urinary prophyrines, acylcarnitine pattern, amino acid and organic acid chromatography). For chronic situations, the main treatable diseases are Wilson's disease, homocysteine, cerebrotendinous xanthomatosis, Refsum's disease, vitamin E deficiency, Gaucher's disease, Fabry's disease, and neurotransmitter metabolism disorders. We present treatable metabolic disorders as a function of the different clinical situations observed in adults.
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PMID:[Treatable hereditary neuro-metabolic diseases]. 1803 24

A porous graphene-coated optical fiber Fabry-Perot interferometer (G-FPI) and Fe3O4-graphene nanocomposite coated Fabry-Perot interferometer (FG-FPI) have been investigated and compared for the detection of ammonia gas at room temperature. The sensor probes were subjected to ammonia concentrations varying from 1.5 ppm to 150 ppm. An increased sensitivity was observed for FG-FPI (36 pm ppm-1) when compared with that of G-FPI (25 pm ppm-1). The observed sensor detection limits for FG-FPI and G-FPI were around 7 and 10 ppb, respectively. The sensing mechanism was based on the change in refractive index/dielectric constant of the material; which changed the conductivity of coated material in presence of NH3. It was observed that the modified refractive index induced a wavelength shift in the FPI. The highly porous structure of graphene and the uniform dispersion of Fe3O4 nanoparticles into this framework effectively facilitated the target gas diffusion and hence improved the sensing performance. The sensing was correlated to the oxygen vacancies on the Fe3O4 surfaces and the depletion region manipulations with the ammonia interactions along with Schottky-type electron conductivity via the conducting graphene assembled porous carbon framework. The mathematical evaluation of the phenomenon also justified the excellent repeatability and reversibility of this sensitive, room temperature sensor.
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PMID:Fe3O4-decorated graphene assembled porous carbon nanocomposite for ammonia sensing: study using an optical fiber Fabry-Perot interferometer. 2956 Sep 94