Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). T...

In a global kinematical study of NGC 5055 using high resolution Fabry-Perot interferometry, intriguing spectral line prooles have been observed in the center of the galaxy. These prooles seem to indicate a rapidly rotating disk with a radius near 365 pc and tilted 50 deg with respect to the major axis of the galaxy. In the hypothesis of a massive dark object, a naive keplerian estimate gives a ...

A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a ...

In 1898 William Anderson and Johannes Fabry described the red-purple maculopapular skin lesions characteristic for Fabry disease and also mentioned the presence of proteinuria. Four decades later Maximiliaan Ruiter concluded that angiokeratoma corporis diffusum is the cutaneous manifestation of an inherited systemic internal disease. In 1947 autopsy findings of two cases who died from uraemia r...

Fabry's Disease is a rare genetic syndrome, with a classic X-linked alpha -galactosidase A deficiency phenotype, responsible for glico-sphyngolypids metabolism impairment with clinical effects in several organs and functions. We describe the anaesthesiologic implications of two patients with Fabry disease who underwent a kidney transplantation from a deceased donor. We recommend careful preoper...

Optical fiber based Extrinsic Fabry-Perot Interferometric (EFPI) sensor significantly emerged as an advanced optical sensor for the health monitoring of civil, mechanical and aeronautical structures. This sensor responds its well capability also towards the measurement of acoustic/shock wave pressure. This paper presents an approach for high blast (acoustic/shock wave) pressure measurement usin...

Abstrucr-Two-diode laser-pumped Nd : YAG lasers have been frequency stabilized to a commercial 6.327 GHz free spectral range Fabry-Perot interferometer yielding a best-case beatnote linewidth of 330 mHz. In addition, a Fabry-Perot interferometer with a free spectral range of 680 MHz, a linewidth of 25 kHz, and a finesse of 27 500 has been built and when it was substituted in place of the commer...

The dc-Kerr constant was measured with high sensitivity in several gases, using a novel ellipsometer, which is based on a high-finesse Fabry–Pérot interferometer. An effective interaction length of 5.26 km was achieved by using a Fabry–Pérot interferometer with intracavity electrodes, yielding a single-pass sensitivity of ≈ 10 nanoradian. The dc-Kerr constants of CO2, N2, and O2 were determined...

We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as de novo because their parents had no mutations in GLA gene. The parents of Fabry patients do not necessarily have mutations in GLA gene which is an i...

The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an e...