We present an analysis comparing the thermal noise in Fabry-Perot and delay-line interferometers with half-infinite mirrors. With a center to center spot spacing of at least twice the Gaussian beam spot size a delay line produces significantly less phase noise than a comparable Fabry-Perot interferometer for the case of half infinite mirrors at frequencies where test mass thermal noise usually ...

BACKGROUND Recently, cognitive assessments of patients with Fabry disease highlighted neurocognitive impairment using test batteries that are time and labor intensive. OBJECTIVES To introduce a user-friendly self-administered tool for cognitive testing in patients with Fabry disease. METHODS We used a computerized system requiring about 1 hour for patient follow-up. All patients with enzyma...

Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement. We report the occurrence of chronic intestinal pseudo-obstruction in t...

BACKGROUND AND PURPOSE Data on the prevalence of Fabry disease in patients with central nervous system pathology are limited and controversial. In this study, we assessed the prevalence of Fabry disease in young patients presenting with cerebrovascular disease in Belgium. METHODS In this national, prospective, multicenter study, we screened for Fabry disease in 1000 patients presenting with i...

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. 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 ...

Marine Laroche [email protected] Laboratoire Charles Fabry de l’Institut d’Optique, CNRS, Université Paris-Sud, Campus Polytechnique, RD128, 91127 Palaiseau, France François Marquier Laboratoire Charles Fabry de l’Institut d’Optique, CNRS, Université Paris-Sud, Campus Polytechnique, RD128, 91127 Palaiseau, France Cédric Vandenbem Laboratoire d’Optique Physique, LPEM UPR5 CNRS, E...

Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thou...

BACKGROUND In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of a cardiac Fabry mutation (IVS4 + 919G > A). The prevalence of this mutation is too high to be believed that it is a real pathogenic mutation. The purpose of this study is to identify the cardiac pathologic characteristics in patients with left ventricular hypertrophy and this mutation METHODS AND RESULTS...

BACKGROUND Fabry disease is a lysosomal X-linked enzyme deficiency of alpha-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and early onset stroke. METHODS We examined the functional blood flow response of the brain after visual stimulation (reversing checkerboard pattern), and cerebral vasoreactivity following acetazolamide (15 mg/kg...