Search results for "fabry"
showing 10 items of 171 documents
Inner ear function in children with Fabry disease
2007
Aim: The prevalence of hearing loss in patients with Fabry disease is still uncertain. This paper examines hearing loss in a group of young patients with Fabry disease. Methods: A clinical ear nose and throat examination,pure-tone air and bone conduction audiometry, speech audiometry and middle ear testing (tympanometry and acoustic reflex testing) were carried out in four girls and two boys with Fabry disease (age, 7-17 years), receiving enzyme replacement therapy (ERT). Results: None of the patients complained of a hearing disorder or suffered from hearing loss. Three female patients reported tinnitus; however, this was not reported as being a problem. One boy reported tinnitus for the fi…
Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
2012
Abstract Introduction Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists. Methods A preliminary 40-item measure of symptoms and experience with FD, the Fabry-specific Paediatric Health and Pain Questionnaire (FPHPQ) was developed, but lacked a formal assessment of its measurement properties. The FPHPQ was used in the Fabry Outcome Survey (FOS), a registry for all patients with a confirmed diagnosis of FD who are receiving agalsidase alfa, or are treatment naïve and who are managed by physicians participating in FOS.…
Fabry disease: enzyme replacement therapy
2003
Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide, galabiosylceramide and two additional glycosphingolipids. Four hemizygotes patients with a family history of Fabry disease and deficiency of the enzyme alpha-galactosidase A were selected. Each patient received purified alpha-galactosidase by intravenous infusion (0.2 mg/kg). The infusion was administered every 2 weeks, for 40 min, for a …
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.
2004
Background Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. In response to the recent introduction of enzyme replacement therapy, the Fabry Outcome Survey (FOS) was established to pool data from European clinics on the natural history of this little-known disease and to monitor the long-term efficacy and safety of treatment. This paper presents the first analysis of the FOS database and provides essential baseline data against which the effects of enzyme replacement can be measured. De…
Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey
2011
The Fabry Outcome Survey (FOS) was established to extend the knowledge of the natural history of Fabry disease and to assess the effects of enzyme replacement therapy (ERT) with agalsidase alfa. As of March 2009, 64 boys and 34 girls with Fabry disease had enrolled in the FOS and been treated with agalsidase alfa for at least 6 months. The prevalence of symptoms tended to be reduced after 12 and 24 months of ERT in patients who experienced symptoms at baseline. In the entire population, non-significant decreases in the prevalence of gastrointestinal problems in boys and pain crises in girls were observed after 12-24 months. Kidney function and left ventricular mass indexed to height remaine…
Neurological complications of Anderson-Fabry disease
2012
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seems to be less severely affected. The most prominent CNS manifestations consist of cerebrovascular events such as transient ischaemic attacks (TIAs) and (recurrent) strokes . For the most part, CNS complications in AFD have been attributed to cerebral vasculopathy, including anatomical abnormalities. The natural history of Fabry patients includes transitory cerebral ischaemia and strokes, even in very young persons of both …
Prevalence of Uncontrolled Hypertension in Patients With Fabry Disease
2017
Background Fabry disease is a rare X-linked disease arising from deficiency of α-galactosidase A. It results in early death related to renal, cardiac, and cerebrovascular disease, which are also important outcomes in patients with elevated blood pressure (BP). The prevalence of uncontrolled hypertension, as well as the effect of enzyme replacement therapy on BP, in patients with Fabry disease is unknown. Methods We examined uncontrolled hypertension (systolic BP [SBP] ≥130 mm Hg or diastolic BP [DBP] ≥80 mm Hg) among 391 patients with Fabry disease who were participating in the Fabry Outcome Survey (FOS). Results Uncontrolled hypertension was present in 57% of men and 47% of women. In patie…
ALD thin ZnO layer as an active medium in a fiber-optic Fabry–Perot interferometer
2015
Abstract A novel optical fiber sensor of temperature using a thin ZnO layer fabricated by atomic layer deposition (ALD) is demonstrated for the first time. The thin ZnO layer was grown on the face of a standard optical telecommunication fiber SMF-28 and operates as a Fabry–Perot interferometer sensitive to temperature. The interferometer characterization was made in the temperature range extending from 50 to 300 °C with resolution equal to 1 °C. The output signal was analyzed by measurement of the shift of the maxima in spectral pattern. The sensitivity of temperature measurement is about 0.05 nm/°C. Furthermore, very good linearity of the sensor was achieved with correlation coefficient R2…
Infrared laser threshold magnetometry with a NV doped diamond intracavity etalon
2019
International audience; We propose a hybrid laser system consisting of a semiconductor external cavity laser associated to an intra-cavity diamond etalon doped with nitrogen-vacancy color centers. We consider laser emission tuned to the infrared absorption line that is enhanced under the magnetic field dependent nitrogen-vacancy electron spin resonance and show that this architecture leads to a compact solid-state magnetometer that can be operated at room-temperature. The sensitivity to the magnetic field limited by the photon shot-noise of the output laser beam is estimated to be less than 1 pT/ √ Hz. Unlike usual NV center infrared magnetometry, this method would not require an external f…
Development and analysis of a model based on chirped fiber Bragg gratings employed for cracks characterization in materials
2018
In this work a model was developed that allows to understand the behavior of a chirped fiber Bragg grating for the detection and characterization of cracks in materials. In addition to the amplitude response, we show that the group delay of the grating provides useful information for the characterization of the crack. The position of the crack can be determined thanks to the linear chirp of the grating that fixes a correlation between the spatial position and both, the wavelength and the group delay. However, our analysis shows that this simple approach has a source of error, which can be overcome if a controllable external strain can be applied to the embedded grating, additional to the st…