Search results for "fabry"

Anderson-Fabry Disease: A Multiorgan Disease

2013

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2), including the skin, kidneys, nervous system, and heart, thereby triggering inflammation and fibrosis . These processes generally result in organ dysfunction, which is usually the first clinical evidence of FD. Patients with classic FD have various symptoms, eg, acroparesthesias, hypohidrosis, angiokeratomas, corneal opacities, cerebrovascular lesions, cardiac disorders, andrenal dysfunction.However, evolving knowledge about the natural course o…

CNS manifestations of Fabry's disease

2006

Summary Background Fabry's disease is a rare hereditary lysosomal storage disease with multiorgan involvement. Deficiency of α-galactosidase A activity leads to accumulation of neutral glycosphingolipids, especially in vascular endothelial and smooth-muscle cells. Along with progressive renal and cardiac dysfunction, stroke is a major and often life-threatening burden of the disease. Cerebral vasculopathy, confirmed by neuropathological, neuroradiological, and functional studies, occurs commonly and leads to ischaemic cerebrovascular events at an early age. Recent developments Fabry's disease is an X-linked disease and women have been regarded as only mildly affected carriers. However, rese…

Nonlinear dynamics of a two-photon Fabry–Pérot laser

2000

Abstract The steady-state emission, stability and temporal dynamics of a single-mode two-photon laser with a Fabry–Perot cavity is investigated and compared with that of a ring-cavity laser. It is found that the Fabry–Perot cavity makes the laser less efficient than the ring cavity because of spatial hole burning, but the domain of stability is larger for the Fabry–Perot laser. The intensity and phase dynamics are numerically investigated and distinctive features are found in the phase dynamics as compared with one-photon lasers.

Extraction of Singlet States from Noninteracting High-Dimensional Spins

2008

We present a scheme for the extraction of singlet states of two remote particles of arbitrary quantum spin number. The goal is achieved through post-selection of the state of interaction mediators sent in succession. A small number of iterations is sufficient to make the scheme effective. We propose two suitable experimental setups where the protocol can be implemented.

CORRELAZIONE TRA FEBBRE MEDITERRANEA FAMILIARE, MALATTIA DI FABRY E GENOTIPI DI SAA1

VALUTAZIONE NON INVASIVA DELLA FUNZIONE ENDOTELIALE IN PAZIENTI AFFETTI DALLA MALATTIA DI ANDERSON-FABRY

2004

Imaging of metabolic and overload disorders in tissues and organs

2023

Metabolic and overload disorders are a heterogeneous group of relatively uncommon but important diseases. While imaging plays a key role in the early detection and accurate diagnosis in specific organs with a pivotal role in several metabolic pathways, most of these diseases affect different tissues as part of a systemic syndromes. Moreover, since the symptoms are often vague and phenotypes similar, imaging alterations can present as incidental findings, which must be recognized and interpreted in the light of further biochemical and histological investigations. Among imaging modalities, MRI allows, thanks to its multiparametric properties, to obtain numerous information on tissue compositi…

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

2012

Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…

VALUTAZIONE DI ALCUNI BIOMARKERS DI STRESS OSSIDATIVO E DELLA FREQUENZA DEGLI APLOGRUPPI MITOCONDRIALI IN UNA POPOLAZIONE DI PAZIENTI CON MALATTIA DI…

2023

La malattia di Fabry comprende una estrema varietà fenotipica in relazione con il grande numero di organi e sistemi coinvolti. La diagnosi di malattia di Fabry è complessa a causa del numero di organi/sistemi coinvolti e dei fenotipi clinici non specifici e della sua rarità. La progressione clinica della malattia si manifesta tra i 30-40 anni quando per i numerosi organi coinvolti compaiono manifestazioni cliniche quali insufficienza cardiaca, renale ed eventi cerebrovascolari. La morte di solito sopraggiunge durante la quarta/quinta decade di vita ed è secondaria all’interessamento cardiaco, renale o cerebrale anche se l’avvento della dialisi e della terapia enzimatica sostitutiva stanno s…

Hyperspectral imaging of asteroids using an FPI-based sensor

2021

The compositions of asteroids are of interest for the planetary sciences, mining, and planetary defense. The main method for evaluating these compositions is reflectance spectroscopy. Spectroscopic measurements performed from Earth can not resolve how different materials are distributed on the asteroids, making flyby-- and rendezvous missions necessary for obtaining detailed information. Using the CubeSat platform could reduce the costs of these missions, but it also sets constraints on the payload mass and volume. One small and light instrument capable of producing spatially resolved spectral data is a hyperspectral imager based on the Fabry-Perot interferometer. We propose a method of cal…