منابع مشابه
Phenotypic heterogeneity of MELAS☆☆☆
With interest we read the article by Dvorakova et al. about 50 Czech patients carrying the m.3243ANG mutation [1]. It raises questions and concerns. Since MELAS is a progressive disease, we should be informed about the long-term follow-up findings in the 50 mutation carriers. How many of the 17 patients without clinical manifestations at inclusion developed MELAS during follow-up? How many of t...
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Sarcoidosis may be associated with granulomatous inflammation in any part of the body, usually in more than one area [1]. Rare manifestations of sarcoidosis include unusual patterns of organ involvement, or are the result of granulomatous inflammation developing in unusual locations for sarcoidosis. In other rare cases, sarcoidosis is associated with a second disorder. Although the frequency of...
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Multiple myeloma (MM) or plasma cell myeloma, is a haematological disease representing 1-2% of all cancers and about 15% of haematological malignancies. The classic form of MM is characterized by generalized neoplastic changes in the bones accompanied by kidney damage, impaired haematopoiesis and susceptibility to infections. In laboratory tests, MM manifests it‐ self by the presence of monoclo...
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Clinical and electrophysiological investigations and nerve biopsies were carried out on 61 patients shown to have a chromosome 17p11.2 duplication (hereditary motor and sensory neuropathy-HMSN Ia). Of these, 50 showed a Charcot-Marie-Tooth (CMT) phenotype and eight could be classified as having the Roussy-Lévy syndrome. Of the patients with a CMT phenotype, three had associated pyramidal signs ...
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ژورنال
عنوان ژورنال: Yonsei Medical Journal
سال: 2020
ISSN: 0513-5796,1976-2437
DOI: 10.3349/ymj.2020.61.10.904