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)

Recently, heterodyne-detected optical Kerr effect (HD-OKE) spectroscopy was used to study dynamics of supercooled molecular liquids. The studies revealed an apparently new physical phenomenon that had not been reported before from the related depolarized light scattering (DLS), namely, an intermediate power law (nearly logarithmic decay) of the response functions [H. Cang et al., J. Chem. Phys. 118, 2800 (2003)]. Conceptually, HD-OKE and DLS data reflect optical anisotropy fluctuations mainly due to molecular reorientation dynamics in time and frequency domains, respectively. The above-mentioned effects are revealed in the mesoscopic range less, similar1 GHz ( greater, similar100 ps), where no direct comparison of the techniques was reported. In this Communication, we attempt such a comparison of exemplifying HD-OKE literature data of the glass-forming salol (phenyl salicylate), benzophenone, and liquid-crystal forming 4-cyano-4(')-pentylbiphenyl with DLS data of the same systems that we measured down to ca. 200 MHz by a combined tandem Fabry-Perot interferometer plus tandem-grating-monochromator technique. Generally, we find a satisfactory agreement, albeit in some cases with subtle differences at frequencies greater, similar10 GHz. We conclude that, in the mesoscopic dynamic range, HD-OKE and DLS studies provide consistent and comparable information, and therefore their conclusions must agree. We argue that the intermediate power law of HD-OKE is in essence a manifestation of the excess wing of the corresponding frequency-domain data, known long since from broadband dielectric spectroscopy and anticipated from DLS studies of supercooled liquids.
J Chem Phys 2006 Sep 21
PMID:Depolarized light scattering versus optical Kerr effect spectroscopy of supercooled liquids: comparative analysis. 1699 85

The advent of innovative techniques in mass spectrometry, especially in the area of imaging, prompted us to evaluate two promising techniques: secondary ion mass spectrometry (SIMS) and matrix-assisted laser desorption/ionization (MALDI) mass spectrometry. For this purpose, sections of cutaneous biopsies from patients affected by Fabry's disease and control patients were analyzed. In the course of this disease, two physiological glycosphingolipids [globotriasylceramide (Gb3) and the galabiosylceramide (Ga2)] accumulate in certain tissues owing to a catabolism failure. The ability of these techniques to localize sites of accumulation in body tissues and their capacity to identify the accumulated lipid structures by mass spectra were evaluated. Results demonstrated that these two techniques provide complementary information:-secondary ion mass spectrometry enabled precise localization of areas of accumulation with lateral resolution in the micrometer range;-the signal obtained with matrix-assisted laser desorption/ionization mass spectrometry was high enough to identify these structures according to their molecular weight.
Ann Pharm Fr 2006 Sep
PMID:[Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease]. 1709 52

Fabry disease is a lysosomal storage disorder caused by the deficiency of alpha-Gal A (alpha-galactosidase A) activity. In order to understand the molecular mechanism underlying alpha-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purified from transfected COS-7 cells and the biochemical properties were characterized. The mutant enzymes detected in variant patients (A20P, E66Q, M72V, I91T, R112H, F113L, N215S, Q279E, M296I, M296V and R301Q), and those found mostly in mild classic patients (A97V, A156V, L166V and R356W) appeared to have normal K(m) and V(max) values. The degradation of all mutants (except E59K) was partially inhibited by treatment with kifunensine, a selective inhibitor of ER (endoplasmic reticulum) alpha-mannosidase I. Metabolic labelling and subcellular fractionation studies in COS-7 cells expressing the L166V and R301Q alpha-Gal A mutants indicated that the mutant protein was retained in the ER and degraded without processing. Addition of DGJ (1-deoxygalactonojirimycin) to the culture medium of COS-7 cells transfected with a large set of missense mutant alpha-Gal A cDNAs effectively increased both enzyme activity and protein yield. DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. In addition, the residual enzyme activity in fibroblasts or lymphoblasts from both classic and variant hemizygous Fabry disease patients carrying a variety of missense mutations could be substantially increased by cultivation of the cells with DGJ. These results indicate that a large proportion of mutant enzymes in patients with residual enzyme activity are kinetically active. Excessive degradation in the ER could be responsible for the deficiency of enzyme activity in vivo, and the DGJ approach may be broadly applicable to Fabry disease patients with missense mutations.
Biochem J 2007 Sep 01
PMID:Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. 1755 7

A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was conducted, which revealed abnormal accumulation or intracytoplasmic storage of lipid-rich material in the small blood vessels, kidney, heart, and nervous system. After postmortem pathologic studies, including light-microscopic histochemistry, electron microscopy, and biochemical analysis of the stored lipid contents, a final diagnosis of Fabry disease was made. Histopathologic examination revealed a unique vasculopathy characterized by the presence of abnormal intracytoplasmic lipid inclusions and vascular remodeling. With regard to the clinical presentation of acromegaly, hyperplasia but not adenomatous transformation of the acidophils of the anterior pituitary gland with immunohistochemical detection of growth hormone within the cells was noted. In this case, the complication of acromegaly with hyperplasia of the acidophilic cells of the anterior pituitary gland and the unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems, possibly as a result of microcirculatory failure, are considered to be not incidental findings but to be intimately involved in the pathogenesis of Farby disease.
Virchows Arch 2007 Sep
PMID:Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. 1762 52

This report describes an open-label, nonrandomized, prospective evaluation of the effects of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker therapy on patients who have Fabry disease and also received enzyme replacement therapy with agalsidase-beta, given at 1 mg/kg body wt every 2 wk. Previous placebo-controlled phase III and phase IV trials with agalsidase-beta demonstrated clearing of globotriaosylceramide from vascular endothelia but little effect on proteinuria or progressive loss of kidney function in patients with Fabry disease and severe chronic kidney disease marked by overt proteinuria and/or estimated GFR <60 ml/min per 1.73 m2. Angiotensin-converting enzyme inhibitor and/or angiotensin receptor blocker therapy is the standard of care for patients with proteinuric kidney diseases, but their use is challenging in patients with Fabry disease and low or low-normal baseline systemic BP. A group of patients with Fabry disease were treated with antiproteinuric therapy, in conjunction with agalsidase-beta; sustained reductions in proteinuria with stabilization of kidney function were achieved in a group of six patients who had severe Fabry nephropathy; the progression rate was -0.23 +/- 1.12 ml/min per 1.73 m2 per yr with 30 mo of follow-up.
J Am Soc Nephrol 2007 Sep
PMID:Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. 1769 7

We present what we believe to be a novel method for order sorting a Fabry-Perot interferometer using a Fourier transform spectrometer (FTS) in tandem. We demonstrate how the order sorting is achieved using a model instrument response as an example of an instrument working in the 5-25 microm band, although the method is generally applicable at all wavelengths. We show that an instrument of this type can be realized with a large bandwidth, a large field of view, and good transmission efficiency. These attributes make this instrument concept a useful technique in applications where true imaging spectroscopy is required, such as mapping large astronomical sources. We compare the performance of the new instrument to grating and standard FTS instruments in circumstances where the measurement is background and detector noise limited. We use a figure of merit based on the field of view and speed of detection and find that the new system has a speed advantage over a FTS with the same field of view in all circumstances. The instrument will be faster than a grating instrument with the same spectral resolution once the field of view is >13 times larger under high background conditions and >50 times larger with detector performances that match the photon noise from Zodiacal light.
Appl Opt 2007 Sep 01
PMID:Cascaded interferometric imaging spectrometer. 1780 78

We have tested a new kind of Fabry-Perot long-baseline optical resonator proposed to reduce the thermal noise sensitivity of gravitational wave interferometric detectors--the "mesa beam" cavity--whose flat top beam shape is achieved by means of an aspherical end mirror. We present the fundamental mode intensity pattern for this cavity and its distortion due to surface imperfections and tilt misalignments, and contrast the higher order mode patterns to the Gauss-Laguerre modes of a spherical mirror cavity. We discuss the effects of mirror tilts on cavity alignment and locking and present measurements of the mesa beam tilt sensitivity.
Appl Opt 2007 Sep 10
PMID:Generation of a flat-top laser beam for gravitational wave detectors by means of a nonspherical Fabry-Perot resonator. 1784 59

A novel fiber-optic in-line etalon formed by splicing a section of hollow-core photonic crystal fiber (HCPCF) in between two single-mode fibers is proposed and demonstrated, for the first time to our knowledge. Such a HCPCF-based etalon acts as an excellent optical waveguide to form a Fabry-Perot interferometer and hence allows the cavity length to be as long as several centimeters with good visibility as the transmission loss of the HCPCF is much smaller than that of a hollow core fiber; this offers great potential to generate a practical dense fiber-optic sensor network with spatial frequency division-multiplexing. This novel etalon is demonstrated for strain measurement, and the experimental results show that a good visibility of 0.3 and a strain accuracy of better than +/- 5 microepsilon are achieved.
Opt Lett 2007 Sep 15
PMID:In-line fiber-optic etalon formed by hollow-core photonic crystal fiber. 1787 27

We experimentally demonstrate a cancellation of back-action noise in optical measurements. Back-action cancellation was first proposed within the framework of gravitational-wave detection by dual resonators as a way to drastically improve their sensitivity. We have developed an experiment based on a high-finesse Fabry-Perot cavity to study radiation-pressure effects in ultrasensitive displacement measurements. Using an intensity-modulated intracavity field to mimic the quantum radiation-pressure noise, we report the first observation of back-action cancellation due to a coherent mechanical response of the mirrors in the cavity to the radiation-pressure noise. We have observed a sensitivity improvement by a factor larger than 20 both in displacement and weak-force measurements.
Phys Rev Lett 2007 Sep 14
PMID:Observation of back-action noise cancellation in interferometric and weak force measurements. 1793 Apr 25

We propose and demonstrate an electro-optic modulator based on a Michelson interferometer with a Gires-Tournois etalon (GTE, or asymmetric Fabry-Perot etalon) in one of the two arms. The insertion of a GTE significantly reduces the required interaction length or the operation voltage. Our experimental and theoretical results agree well. An extension of our setup to a waveguide configuration can lead to practical modulators and switches with greater compactness and reduced operation voltage for optical fiber communications.
Opt Lett 1999 Sep 01
PMID:Electro-optic Michelson Gires Tournois modulator for optical information processing and optical fiber communications. 1807 96


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