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Conceicao I.,Physiology Institute | Gonzalez-Duarte A.,Instituto Nacional Of Ciencias Medicas Y Nutricion Salvador Zubiran | Obici L.,Amyloidosis Research and Treatment Center | Schmidt H.H.-J.,Universitatsklinikum Munster | And 3 more authors.
Journal of the Peripheral Nervous System | Year: 2016

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed. © 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society. Source


Doutreleau S.,Physiology Institute | Rouyer O.,Physiology Institute | Di Marco P.,Physiology Institute | Lonsdorfer E.,Physiology Institute | And 3 more authors.
American Journal of Clinical Nutrition | Year: 2010

Background: Endothelial dysfunction is associated with the decreased exercise capacity observed in heart-transplant (HTx) recipients. L-Arginine supplementation (LAS) stimulates the nitric oxide (NO) pathway and restores endothelial function. Objective: We compared exercise capacity in healthy subjects and HTx patients and investigated whether chronic LAS might improve exercise capacity and NO/endothelin balance after an HTx. Design: Clinical, echocardiographic, and exercise characteristics were measured in 11 control subjects and 22 HTx recipients. In a prospective, double-blind study, the 22 HTx recipients performed a 6-min exercise [6-min-walk test (6MWT)] and a maximal bicycle exercise test before and after a 6-wk period of placebo intake or LAS. Endothelial function was measured by analyzing blood NO metabolites, endothelin, and the resulting NO/endothelin balance. Results: Exercise capacity decreased after transplantation. Unlike with the placebo intake, 6 wk of LAS improved quality of life in HTx recipients (mean ± SEM Minnesota Score: from 15.3 ± 1.3 to 10.6 ± 1.1; P < 0.001) and their submaximal exercise capacity. The distance walked during the 6MWT increased (from 525 ± 20 to 580 ± 20 m; P = 0.002), and the ventilatory threshold during the incremental test was delayed by 1.2 min (P = 0.01). Central factors such as resting stroke volume, systolic pulmonary arterial pressure, cardiac systolodiastolic functions, and heart-rate reserve were not modified, but LAS significantly increased the NO:endothelin ratio (from 2.49 ± 0.38 to 3.31 ± 0.39; P = 0.03). Conclusion: Oral LAS may be a useful adjuvant therapeutic to improve quality of life and exercise tolerance in HTx recipients. © 2010 American Society for Nutrition. Source

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