منابع مشابه
Biopsy experience in a FAP endemic area
Results Until 1988, nerve and skin biopsies were commonly performed for diagnostic purposes, after that with genetic testing being available all tissue biopsies declined in number and were only needed in difficult diagnostic cases or when genetic testing was not available. Nerve biopsy became relevant again with the appearance of atypical clinical presentations or late onset or sporadic patient...
متن کاملTransthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area
BACKGROUND Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among...
متن کاملhydatids everywhere: a 15-year experience of unusual locations of the disease in an endemic area
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متن کاملEchinococcosis in children: Experience in a tertiary care hospital outside the endemic area.
Echinococcosis is a zoonotic disease that is widely spread across Argentina and worldwide. It is acquired during childhood but it is more common during adulthood. The pediatric population accounts for 10-20% of all cases. This study included 47 children diagnosed with echinococcosis over a 20-year period. Their median age was 8 years old (range: 3-17); most patients had some epidemiological his...
متن کاملCervical tularaemia in a non-endemic area.
Tularemia is a zoonotic disease caused by Francisella tularensis. The microorganism is transmitted to humans by contact with, or ingestion of, infected animal tissues, by insect bites, consumption of contaminated food or water, or from inhalation of aerolized bacteria. In this report we describe a case of tularemia presenting with multiple cervical lymphadenitis in Asturias (Spain). Final diagn...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2015
ISSN: 1750-1172
DOI: 10.1186/1750-1172-10-s1-i15