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Familial amyloid polyneuropathy (FAP) is phenotypic and genetic heterogeneic and is caused by mutations in the genes for TTR (prealbumin), apolipoprotein A1, or gelsolin127,135,140 145 Diagnosis of familial amyloidosis is made by detection of amyloid deposition in abdominal fat pad, rectal, or nerve biopsies and on genetic testing Unlike, the nonhereditary forms of amyloidosis, monoclonal gammopathies are not present and the abnormal amyloid deposits do not immunostain for immunoglobulin light chains However, these amyloid deposits may stain for TTR, apolipoprotein A1, or gelsolin Nerve biopsies in the different forms of FAP reveal ndings similar to that seen in AL amyloidosis Amyloid deposition can be multifocal or diffuse within the endoneurium, epineurium, or perineurium, as well as around blood vessels in autonomic ganglia and in peripheral nerves135,142 There is a loss of myelinated nerve bers, particularly small myelinated and unmyelinated nerve bers These deposits encroach upon the nerve bers, resulting in axonal degeneration and segmental demyelination The clinical features, histopathology, and electrophysiological studies reveal abnormalities consistent with a generalized or multifocal, predominantly axonal but occasionally demyelinating, sensorimotor polyneuropathy18,139 146 The pathogenic bases for the FAP neuropathies are likely similar to that noted with AL neuropathy

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Nerve biopsies reveal axonal degeneration and severe loss of small myelinated and unmyelinated bers There is a less pronounced but obvious degeneration of the large myelinated nerve bers as well Congo red stains usually, but not always, amyloid deposition in either the globular or the diffuse pattern, in ltrating the perineurial, epineurial, and endoneurial connected tissue in blood vessel walls132 Amyloid deposition can also be demonstrated in the sympathetic and dorsal root ganglion Because of the patchy, multifocal pattern of amyloid deposition, biopsies are not always diagnostic Other sites commonly biopsied include the kidney, rectal mucosa, stomach, abdominal fat pad, salivary glands, muscle, and skin Abdominal fat-pad biopsies seem to be the most sensitive method to detect amyloid deposits and these are found by this method in 85% of patients Immunohistochemistry is helpful in demonstrating that the amyloid is composed of , or less frequently , light chains

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How to perform HTML to PDF conversion with Azure function | ASP ...
5 Dec 2018 ... Steps to convert HTML to PDF using .NET in Azure functions programmatically: Create a new Azure function project. Create a Azure Function ...

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Case Study: Converting PDF documents on Windows Azure with ...
Case Study: Converting PDF documents on Windows Azure ™ with ABCpdf.NET. Altaine Logo. Altaine's lead programmer John Downs describes how they ...

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