منابع مشابه
Hereditary transthyretine amyloidosis in Slovenia
The prevalence of transthyretin (TTR) amyloidosis in Europe is supposed to be less than one per 100,000 individuals. Slovenia is a rather small country with approximately two million inhabitants and we know of two families with 4 patients with this disease. The first patient (family A) was diagnosed in 2008 when also one of the asymptomatic family members who agreed to molecular genetic testing...
متن کاملFirst European Congress on Hereditary ATTR amyloidosis.
Familial amyloidosis typically causes a nerve length-dependent small fiber polyneuropathy that starts in the feet with loss of temperature and pain sensations, associated with autonomic dysfunction, which can be extremely severe and life threatening. Neuropathic pain is commonly associated with amyloid neuropathy. There are no randomized controlled trials in peripheral neuropathies specifically...
متن کاملHeart transplantation in hereditary ATTR amyloidosis
Systemic amyloidosis related to mutation of TTR gene can be complicated with Familial Amyloid Cardiomyopathy (TTR-FAC), a severe and life threatening form of heart failure with preserved ejection fraction, with a poor prognosis. To date there is no proven effective specific treatment against TTR-FAC, and the usual treatments of chronic heart failure are either ineffective or contra indicated, e...
متن کاملHereditary systemic immunoglobulin light-chain amyloidosis.
Several members of a family died from renal failure as a result of systemic amyloidosis. Extensive studies to detect previously documented gene mutations associated with amyloidosis failed to identify a causative factor. In search of the genetic basis for this syndrome, amyloid fibrils were isolated from renal tissue of a member of the kin who died while on renal dialysis. Amino acid sequencing...
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ژورنال
عنوان ژورنال: Arthritis & Rheumatism
سال: 1970
ISSN: 0004-3591,1529-0131
DOI: 10.1002/art.1780130622