کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8343663 | 1541552 | 2017 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency
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کلمات کلیدی
Biochemical testingTurn-around-timeWGSPDCPDHA1WESTGPDiagnostic algorithm - الگوریتم تشخیصیTAT - تاتVariability - تغییرپذیریWhole exome sequencing - توالی کامل exomeWhole genome sequencing - توالی یابی کامل ژنومSensitivity - حساسیتconfidence interval - فاصله اطمینانReference range - محدوده مرجعpyruvate dehydrogenase complex - پیرووات دهیدروژناز پیچیدهPyruvate dehydrogenase complex deficiency - کمبود پیروات دهیدروژناز پیچیده
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency](/preview/png/8343663.png)
چکیده انگلیسی
CIDEM data were filtered by lactic acidosis and functional PDC deficiency in at least one cell/tissue type (blood lymphocytes, cultured fibroblasts or skeletal muscle) identifying 186 subjects (51% male and 49% female), about half were genetically resolved with 78% of those determined to have a pathogenic PDHA1 mutation. Assaying PDC in cultured fibroblasts in cases where the underlying genetic etiology is PDHA1, was highly sensitive irrespective of gender; 97% (95% confidence interval [CI]: 90%-100%) and 91% (95% CI: 82%-100%) in females and males, respectively. In contrast to the fibroblast-based testing, the lymphocyte- and muscle-based testing were not sensitive (36% [95% CI: 11%-61%, p = 0.0003] and 58% [95% CI: 30%-86%, p = 0.014], respectively) for identifying known PDC deficient females with pathogenic PDHA1 mutations. In males with a known PDHA1 mutation, the sensitivity of the various cell/tissue assays (75% lymphocyte, 91% fibroblast and 88% muscle) were not statistically different, and the discordance frequency due to the specific cell/tissue used for assaying PDC was 0.15 ± 0.11. Based on this data, a practical diagnostic algorithm is proposed accounting for current molecular approaches, enzyme testing sensitivity, and variability due to gender, cell/tissue type used for testing, and successive repeat testing.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 122, Issue 3, November 2017, Pages 61-66
Journal: Molecular Genetics and Metabolism - Volume 122, Issue 3, November 2017, Pages 61-66
نویسندگان
Ha Kyung Shin, George Grahame, Shawn E. McCandless, Douglas S. Kerr, Jirair K. Bedoyan,