کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
11010509 | 1807152 | 2018 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia
ترجمه فارسی عنوان
چشم انداز ژنتیک آرتروپاتیک استنوزال مغزی و سکته مغزی در آنمی سلولی سکتک
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کلمات کلیدی
سکته مغزی بیماری مومیایی بیماری سلول داسی شکل، کمخونی سلول داسی شکل، آرتروپاتی انسدادی استنئو،
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
مغز و اعصاب بالینی
چکیده انگلیسی
Sickle cell disease (SCD) is one of the most common autosomal recessive diseases in humans, occurring at a frequency of 1 in 365 African-American and 1 in 50 sub-Saharan African births. Despite progress in managing complications of SCD, these remain a major health burden worldwide. Stroke is a common and serious complication of SCD, most often associated with steno-occlusive cerebral arteriopathy, but little is known about its pathogenesis. Transcranial Doppler ultrasonography is currently the only predictive test for future development of stroke in patients with sickle cell anemia and is used to guide preventative treatment. However, transcranial Doppler ultrasonography does not identify all patients at increased risk for stroke, and progressive arteriopathy may occur despite preventative treatment. While sibling studies have shown a strong genetic contribution to the development of steno-occlusive arteriopathy (SOA) in SCD, the only genome-wide association study compared a relatively small cohort of 177 patients with stroke to 335 patients with no history of stroke. This single study detected variants in only 2 genes, ENPP1 and GOLGB1, and only one of these was confirmed in a subsequent independent study. Thus, the underlying genes and pathogenesis of SOA in SCD remain poorly understood, greatly limiting the ability to develop more effective preventive therapies. Dissecting the molecular causes of stroke in SCD will provide valuable information that can be used to better prevent stroke, stratify risk of SOA, and optimize personalized medicine approaches.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Stroke and Cerebrovascular Diseases - Volume 27, Issue 11, November 2018, Pages 2897-2904
Journal: Journal of Stroke and Cerebrovascular Diseases - Volume 27, Issue 11, November 2018, Pages 2897-2904
نویسندگان
Catherine MD, Jonathan PhD, Julie MD, William B. MD,