Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence of mulberry cells. He had no history of general symptoms except for proteinuria. T...

Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, ar...

A method is presented for compensating cavity thickness variations in conventional Fabry–Perot devices through the replacement of the input mirror with a holographic mirror, resulting in a self-tuned Fabry–Perot ~STFP! device. The technique is suitable for integrating large arrays of electro-optic Fabry–Perot modulators with silicon circuitry. Experimental results of a STFP modulator are presen...

A unique molecular library consisting of all sixteen synthetic ADMDP (1-aminodeoxy-DMDP) stereoisomers has been prepared and evaluated for inhibitory activity against α-Gal A, and ability to impart thermal stabilization of this enzyme. The results of this testing led us to develop a novel pharmacological chaperone for the treatment of Fabry disease. 3-Epimer ADMDP was found to be an effective p...

The diaphragm fiber optic sensor (DFOS) solely based on Fabry-Perot multiple beam interference has been designed and fabricated with Micro-electric mechanical system (MEMS) technology. The silicon diaphragm with an embossed center was designed with an interference gap width kept accurately. The DFOS is verified to be truly and purely of Fabry-Perot type via a critical test. Parallel testing of ...

Fabry disease is a rare genetic disease due to a deficiency of the lysosomal hydrolase αgalactosidase A (α-Gal A) [1]. The recent advance of knowledge in Fabry disease can be applied to other lysosomal diseases and enhance our understanding in the pathogenesis and management of those once considered miserable and untreatable diseases. Unlike other lysosomal diseases, Fabry disease involves mult...

In this work the results of the theoretical studies of photonic integrated circuit refractive index sensor based on quasi1D Bragg grating configurations which act as a Fabry-Perot interferometers are presented. The variation of the medium refractive index is detected by monitoring the shift of the spectral maxima of the Fabry-Perot cavity. The sensor has been designed using the analytical expre...

the formation of vascular microcalcifications. Presence of the sign has been correlated to age and severity of kidney disease, but not to the appearance of ischaemic stroke.5 The case we present confirms that T1-weighted images of bilateral pulvinar hyperintensity secondary to calcification are not pathognomonic for Fabry disease. Researchers require further studies to evaluate the frequency of...

In 1897 Charles Fabry and Alfred Pérot published their most important article on what we now call the Fabry–Pérot interferometer. Despite the great importance of this instrument for present-day research in physics and astrophysics, its inventors are almost completely unknown to most physicists. This article presents brief accounts of the life and work of Fabry and Pérot, who at the beginning of...

We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest the association among persistent inflammation, ocular involvement and recurrent s...