نتایج جستجو برای: fabry
تعداد نتایج: 6280 فیلتر نتایج به سال:
BACKGROUND/AIMS Fabry disease is a treatable cause of chronic kidney disease (CKD) characterized by a genetic deficiency of α-galactosidase A. European Renal Best Practice (ERBP) recommends screening for Fabry disease in CKD patients. However, this is based on expert opinion and there are no reports of the prevalence of Fabry disease in stage 1-5 CKD. Hence, we investigated the prevalence of Fa...
Fabry disease is caused by deficient activity of lysosomal enzyme α-galactosidase A. The enzyme deficiency results in intracellular accumulation of glycosphingolipids, leading to a variety of clinical manifestations including hypertrophic cardiomyopathy and renal insufficiency. The mechanism through which glycosphingolipid accumulation causes these manifestations remains unclear. Current treatm...
Fabry disease is an X-linked lysosomal storage disorder which can result in renal, cardiac, and cerebrovascular disease. Patients are at increased risk of stroke and neuroimaging studies note cerebrovascular pathology. This study provides a cognitive profile of a cohort of individuals with Fabry disease and investigates the impact of pain, age, renal, cardiac, and cerebrovascular functioning on...
Fabry disease (alpha-galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder. Although the disease presents in childhood and culminates in cardiac, cerebrovascular, and end-stage renal disease, diagnosis is often delayed or missed. This paper reviews the key signs and symptoms of Fabry disease and provides expert recommendations for diagnosis, follow-up, medical manageme...
BACKGROUND High-sensitivity troponin (hs-TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs-TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow-up study to assess longitudinal hs-TNT changes relative to fibrosis and cardiomyopathy progression. METHODS ...
BACKGROUND Cerebral vasculopathy have been described in Fabry disease, in which altered cerebral blood flow, vascular remodelling or impairment of endothelial function could be involved. Our study aims to evaluate these three possibilities in a group of Fabry patients, and compare it to healthy controls. METHODS Cerebral hemodynamics, vascular remodelling and systemic endothelial function wer...
AIMS A hallmark of Fabry disease is the concomitant development of left-ventricular hypertrophy and arterial intima-media thickening, the pathogenesis of which is thought to be related to the presence of a plasmatic circulating growth-promoting factor. We therefore characterized the plasma of patients with Fabry disease in order to identify this factor. METHODS AND RESULTS Using a classical b...
We systematically characterize the Fabry-Pérot resonator. We derive the generic Airy distribution of a Fabry-Pérot resonator, which equals the internal resonance enhancement factor, and show that all related Airy distributions are obtained by simple scaling factors. We analyze the textbook approaches to the Fabry-Pérot resonator and point out various misconceptions. We verify that the sum of th...
Due to its high resolution and the large measuring range, laser interferometer has been applied widely to the precision industrial measurement and calibration. Fabry-Perot interferometry was often used for the microdisplacement, because of its common optical path structure being insensitive to the environmental disturbances. In the past researches, some kinds of modified Fabry-Perot interferome...
Current commercial interferometers reveal excellent measurement performances, because of its major advantage which enables the displacement measurement with the characterization of the high resolution under the large measuring range. FabryPerot interferometer is a compact interferometer with the structure of common optical path. In comparison with the ordinary commercial laser interferometers h...
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