نتایج جستجو برای: amyloid neuropathies
تعداد نتایج: 45949 فیلتر نتایج به سال:
Small fiber neuropathies (SFN) are characterized by alteration of unmyelinated and small myelinated nerve fibers with impairment of pain and temperature sensations, often associated with autonomic disturbances. Pains and numbness in distal lower limbs are the most common symptoms. Loss of temperature and pain sensations in distal lower limbs contrasts with relative preservation of light touch, ...
Peripheral neuropathies may complicate all stages of HIV infection. During the early asymptomatic stages peripheral neuropathies are uncommon, but electrodiagnostic testing reveals subclinical evidence of peripheral nerve involvement in about 10 % of cases. In later stages, symptomatic neuropathies occur in some 30-50 % of patients. Neuropathological studies have shown pathological changes with...
Objectives Changes in the microvascular environment are considered crucial pathogenesis of compression neuropathies. Several studies have demonstrated elevated intraneural vascularity severe neuropathy compared with healthy subjects, where is predominantly undetectable. The aim this study was to assess and quantify vasculature by superb imaging (SMI) volunteers median, ulnar common peroneal ner...
Methods Twenty-one subjects were contacted to participate in this study. Eleven FAP patients and 10 normal volunteers were recruited for this hospital’s ethics committee approved study. Confirmed genetically FAP patients were recruited from our registry, and were prospectively re-examined to determine the frequency of neuropathic motor, sensory, and autonomic symptoms and findings, to measure n...
IMPORTANCE Familial amyloid polyneuropathy, a lethal genetic disease caused by aggregation of variant transthyretin, induces progressive peripheral nerve deficits and disability. Diflunisal, a nonsteroidal anti-inflammatory agent, stabilizes transthyretin tetramers and prevents amyloid fibril formation in vitro. OBJECTIVE To determine the effect of diflunisal on polyneuropathy progression in ...
Familial amyloid polyneuropathy (FAP) is an autosomal dominant disease characterized by deposition of amyloid related to the presence of mutations in the transthyretin (TTR) gene. TTR is mainly synthesized in liver, choroid plexuses of brain and pancreas and secreted to plasma and cerebrospinal fluid (CSF). Although it possesses a sequon for N-glycosylation N-D-S at position 98, it is not secre...
OBJECTIVE Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS). METHODS We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy. RESULTS Both patients were confirmed to have transthyret...
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy. The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin-binding protein. We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. This site is polymorphic since the nor...
Background Safety and efficacy of once-daily 20 mg tafamidis, a transthyretin (TTR) stabilizer, was evaluated in an 18-month, multicentre, randomized, double-blind, placebo-controlled study in 128 patients with early symptomatic V30M TTR familial amyloid polyneuropathy (TTR-FAP). In the intent-to-treat population, a responder analysis for Neuropathy Impairment Score-Lower Limb (NIS-LL) (co-prim...
To investigate the role of the autonomic nervous system (ANS) in the generation of the circadian blood pressure (BP) variation, the degree of impairment of the ANS was related to the results of ambulatory BP recordings in 212 patients with progressive autonomic failure due to familial amyloid polyneuropathy. On the basis of BP and/or heart rate (HR) responses to the Valsalva maneuver, 60 degree...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید