Search results for "fabry"

Fabry nephropathy: 5 years of enzyme replacement therapy-a short review.

2007

Fabry disease is an X-linked lysosomal storage disease, resulting from a deficiency of the enzyme α-galactosidase A and subsequent cellular storage of the enzyme substrate globotriaosylceramide (Gb3) [1]. Estimates of the incidence of Fabry disease vary markedly, from 1:<5000 male births in a newborn screening study in Italy [2] to 1:117 000 male births in Australia [3] and 1:833 000 male births in northern Portugal [4]. In general, hemizygous males are more severely affected than heterozygous females. In males, life expectancy is reduced by an average of 20 years [5] and in females by 15 years [6]. Although males tend to suffer symptoms earlier than females, both boys and girls can be affe…

Treatment of Anderson-Fabry Disease

2020

Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstrat…

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

2012

Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage disorder, characterized by a-galactosidase deficiency. Glycosphingolipids accumulate in cells throughout the body resulting in progressive multi-organ failure. Difficulties are encountered when trying to interpret the significance of angiokeratomas because they may also occur in other lysosomal storage disorders and rarely in an isolated manner in Fabry disease. We present an algorithm for the classification of angiokeratomas which might prove…

Obrazy brudu - brud w obrazowaniu górnośląskich krytyków kultury

2012

Mechanisms of neuropathic pain and their importance in Fabry disease

2007

UNLABELLED One of the most prominent features of Fabry disease is neuropathic pain. Neuropathic pain occurs after neuronal damage. In contrast to inflammatory or trauma-related pain, which normally helps to maintain or restore body functions, neuropathic pain tends to become chronic, and must therefore be considered a 'pathological' pain. Neuropathic pain has usually been classified according to the aetiology of nerve damage: traumatic, inflammatory, cancer-related or metabolic (e.g. Fabry disease). However, use of this classification often results in inadequate therapy for neuropathic pain. Recent research has revealed distinct mechanisms that are responsible for neuropathic pain. These me…

Fabry Disease With Concomitant Lewy Body Disease

2019

AbstractAlthough Gaucher disease can be accompanied by Lewy pathology (LP) and extrapyramidal symptoms, it is unknown if LP exists in Fabry disease (FD), another progressive multisystem lysosomal storage disorder. We aimed to elucidate the distribution patterns of FD-related inclusions and LP in the brain of a 58-year-old cognitively unimpaired male FD patient suffering from predominant hypokinesia. Immunohistochemistry (CD77, α-synuclein, collagen IV) and neuropathological staging were performed on 100-µm sections. Tissue from the enteric or peripheral nervous system was unavailable. As controls, a second cognitively unimpaired 50-year-old male FD patient without LP or motor symptoms and 3…

Sweat Gland Biopsy: A Possible Early Diagnostic Tool in the Anderson-Fabry Disease

2016

Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by deficient or absent activity of the enzyme alfa-galactosidase A. This defect enzyme leads to accumulation of glycolipids, primarily globotriaosylceramide (Gb3), in the vascular endothelium of several organs, including the skin, kidneys, nervous system, and heart. The characteristic early clinical features of Fabry disease include acroparaesthesia, angiokeratoma, heat intolerance, hypohidrosis, cornea verticillata and gastrointestinal symptoms. Later complications occur with the disease progression and include progressive renal failure, hypertrofic cardiomyopathy, cerebrovascular disease and reduced life expectanc…

Miniature MOEMS hyperspectral imager with versatile analysis tools

2019

The Fabry-Perot interferometers (FPI) are essential components of many hyperspectral imagers (HSI). While the Piezo-FPI (PFPI) are still very relevant in low volume, high performance applications, the tunable MOEMS FPI (MFPI) technology enables volume-scalable manufacturing, thus having potential to be a major game changer with the advantages of low costs and miniaturization. However, before a FPI can be utilized, it must be integrated with matching optical assembly, driving electronics and imaging sensor. Most importantly, the whole HSI system must be calibrated to account for wide variety of unwanted physical and environmental effects, that significantly influence quality of hyperspectral…

Discovering knowledge in various applications with a novel hyperspectral imager

2013

HYPERSPECTRAL REFLECTANCE SIGNATURES AND POINT CLOUDS FOR PRECISION AGRICULTURE BY LIGHT WEIGHT UAV IMAGING SYSTEM

2018

Abstract. The objective of this investigation was to study the use of a new type of a low-weight unmanned aerial vehicle (UAV) imaging system in the precision agriculture. The system consists of a novel Fabry-Perot interferometer based hyperspectral camera and a high-resolution small-format consumer camera. The sensors provide stereoscopic imagery in a 2D frame-format and they both weigh less than 500 g. A processing chain was developed for the production of high density point clouds and hyperspectral reflectance image mosaics (reflectance signatures), which are used as inputs in the agricultural application. We demonstrate the use of this new technology in the biomass estimation process, w…