Investigating diagnostic sequencing techniques for CADASIL diagnosis
نویسندگان
چکیده
منابع مشابه
Diagnostic criteria of vascular dementia in CADASIL.
BACKGROUND AND PURPOSE Subcortical ischemic vascular dementia (SIVD) is a major subtype of vascular dementia (VaD). Recently, the diagnostic criteria of VaD have been modified to encompass this entity. Application of these criteria in CADASIL, a genetic model of SIVD, may help to better assess their significance. The aim of this study was to compare different sets of diagnostic criteria of VaD ...
متن کامل[The new diagnostic methods of CADASIL as differential diagnosis of HDLS].
Both hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are autosomal dominant white matter diseases. First symptoms of HDLS are cognitive decline or dementia, while those of CADASIL are migraine or ischemic infarcts. Family histories of young patients with stroke are import...
متن کاملStroke Expert System Extended to Diagnosis Cadasil
BACKGROUND: A stroke diagnosis expert system prototype StrokeDx has been developed. StrokeDx has been extended to include knowledge about a genetic stroke syndrome, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). A clinical discovery of 2 new CADASIL mutations is reported. Mutation 1 is a G to T transversion at nucleotide position 2077 with ...
متن کاملCadasil - genetic and ultrastructural diagnosis. Case report
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent tra...
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Aims: Ovarian cancer has the worst prognosis among female genital tract malignancies, but if detected in the early stages, it is one of the most treatable malignancies. The aim of this study was to investigate the diagnostic value of tumor markers compared to ultrasound in the diagnosis of ovarian tumors. Materials and methods: In this cross-sectional-analytical study, 210 women referred to ...
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ژورنال
عنوان ژورنال: Human Genomics
سال: 2020
ISSN: 1479-7364
DOI: 10.1186/s40246-019-0255-x