Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone op...

OBJECTIVE Current studies of newborn screening for Fabry disease in Taiwan have revealed a remarkably high prevalence of cardiac-type Fabry disease with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A). DESIGN Retrospective cohort study. SETTING Tertiary medical centre. PARTICIPANTS 21 patients with cardiac-type Fabry disease (15 men and 6 women) as well as 15 patients with class...

Optical sensors based on Fabry-Perot interferometer to detect cadmium ions is proposed. The sensor was fabricated by coating the tip of the optical fiber by chitosan. The two chitosan surfaces serve as mirrors which form a Fabry-Perot interferometer. The characterization results indicate that the sensor has a linear response with sensitivity of 0.0884 dBm/ppm with a correlation factor of 0.9665...

We report on novel three-dimensional tunable Fabry-Perot etalons fabricated by surface micromachining technique. The Fabry-Perot etalons are tuned by rotation or translation movements. For the Fabry-Perot etalon tuned by rotational movement, the Fabry-Perot etalon is integrated with a rotational stage and the effective light path distance is adjusted by rotating the stage. The transmission peak...

BACKGROUND Fabry disease, an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase activity, is associated with progressive loss of kidney function. This study was undertaken to characterize Fabry disease among patients who reached end-stage renal disease. METHODS Data from 2,712 patients in the Fabry Registry were analysed to identify clinical characteristics of pat...

of various cells, such as in the vascular endothelium of multiple organs (1). The accumulation of GL-3 in the lysosomes causes lysosomal and cellular dysfunction and this in turn, triggers the cascade of cellular and tissue ischemia and fibrosis. The estimated prevalence of Fabry disease is about one in every 117000 live born males. The classic phenotype of Fabry disease is seen Introduction Fa...

A novel technique to overcome the long-term drift and hysteresis of a scanning Fabry–Perot filter was developed and applied to wavelength and power monitoring of DWDM system. By using the comb peaks generated by a temperaturestabilized, near threshold-biased Fabry–Perot diode laser as wavelength reference for the scanning Fabry–Perot filter, wavelength and power measurement accuracy of better t...

PURPOSE To evaluate a visual symptoms survey on patients with a known diagnosis of Fabry disease, and to compare the scores to those from a group of healthy subjects. MATERIALS AND METHODS An ocular symptom survey instrument was used to evaluate the symptoms of general ocular problems like itching, tearing, dryness, burning sensation, sensation of foreign body, difficulty in scotopic and phot...

BACKGROUND Ocular signs of Fabry disease can be seen in the first decade of life. METHODS We examined the occurrence of ocular signs in 232 paediatric patients in the Fabry Outcome Survey (FOS) international registry and looked for relationships between the presence of eye findings and disease severity as measured by the FOS Mainz severity score index (FOS-MSSI). RESULTS At least one ocular...

results approximately 20% of the patients expressed alternatively spliced transcripts of gla mrna involving exon 3. we additionally report that such non-canonical transcripts are physiologically expressed at trace levels in healthy individuals, and that their expression in leukocytes markedly increased in blood samples kept at room-temperature for 48 hours before rna extraction. background defi...