In this paper, we investigated one of the promising applications of left-handed metamaterials: composite metamaterial based cavities. Four different cavity structures operating in the microwave regime were constructed, and we observed cavity modes on the transmission spectrum with different quality factors. The effective permittivity and permeability of the CMM structure and cavity structure we...

BACKGROUND Fabry disease is caused by an X-linked recessive inborn error of glycosphingolipid metabolism with deficient activity of a lysosomal enzyme, alpha-galactosidase A (α-GalA). CASE PRESENTATION A 46 year-old man with progressive kidney disease showed on kidney biopsy electron microscopic evidence of Fabry disease. The patient had no systemic manifestations of Fabry disease, despite re...

Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease. We investigated the link between Gb3, lys...

BACKGROUND In Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impa...

BACKGROUND Fabry disease is an X-linked recessive lysosomal storage disease resulting in the cellular accumulation of globotriaosylceramide particularly globotriaosylceramide. The disease is characterized by a dilated vasculopathy with arterial ectasia in muscular arteries and arterioles. Previous venous plethysomographic studies suggest enhanced endothelium-dependent vasodilation in Fabry dise...

BACKGROUND Fabry disease is characterized by a progressive deposition of sphingolipids in different organ systems, whereby cardiac involvement leads to death. We hypothesize that lysosomal storage of sphingolipids in the heart as occurring in Fabry disease does not reflect in higher cardiac lipid concentrations detectable by 1H magnetic resonance spectroscopy (MRS) at 3 Tesla. METHODS Myocard...

We investigated a novel and ultracompact polymer-capped Fabry-Perot interferometer, which is based on a polymer capped on the endface of a single mode fiber (SMF). The proposed Fabry-Perot interferometer has advantages of easy fabrication, low cost, and high sensitivity. The variation of the Fabry-Perot cavity length can be easily controlled by using the motors of a normal arc fusion splicer. M...

Fabry disease is an inherited lysosomal storage disorder caused by deficient α-galactosidase A activity. Many missense mutations in Fabry disease often cause misfolded gene products, which leads to their retention in the endoplasmic reticulum by the quality control system; they are then removed by endoplasmic reticulum-associated degradation. We discovered that a potent α-galactosidase A inhibi...

BACKGROUND Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain....

Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature. Classical patients with mutations in the a-galactosidase A gene accumulate globotriaosylceramide and become symptomatic in childhood with pain, gastrointestinal disturbances, angiokeratoma, and hypohidrosis. Classical ...