2023年2月28日
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纵向评估肌酸激酶、肌酸和肌酐比和肌肉生长抑制素监测生物标志物在贝克肌营养不良
第一次出版2022年12月5日,
DOI: https://doi.org/10.1212/WNL.0000000000201609
Nienke m·范·德·
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
沙滩Koeks
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
米尔科Signorelli
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
尼莎Verwey
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
莫里斯Overzier
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
傻瓜a赞美上帝
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
Gautam Sajeev
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
詹姆斯Signorovitch
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
瓦Ricotti
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
Jan Verschuuren
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
克里斯蒂布朗
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
Pietro Spitali
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
埃里克·h·尼克
从神经学部门(N.M.V.首页,Z.K.,J.V.,E.H.N.), Biomedical Data Sciences (M.S.), Human Genetics (N.V., M.O., P.S.), and Clinical Chemistry and Laboratory Medicine (J.A.B.), Leiden University Medical Center, the Netherlands; Duchenne Center Netherlands (N.M.V., J.V., P.S., E.H.N.); European Reference Network for Rare Neuromuscular Diseases [ERN EURO-NMD] (N.M.V., Z.K., N.V., M.O., J.V., P.S., E.H.N.); Mathematical Institute (M.S.), Leiden University, the Netherlands; Analysis Group Inc (G.S., J.S.), Boston, MA; Solid Biosciences Inc (V.R., K.B.), Cambridge, MA; and NIHR Great Ormond Street Hospital Biomedical Research Centre (V.R.), Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, United Kingdom.
纵向评估肌酸激酶、肌酸和肌酐比和肌肉生长抑制素监测生物标志物在贝克肌营养不良
Nienke M。威尔德,沙滩时Koeks,米尔科Signorelli,尼莎Verwey,莫里斯Overzier,傻瓜一个。赞美上帝,GautamSajeev,詹姆斯Signorovitch,瓦Ricotti,1月Verschuuren,克里斯蒂布朗,彼得罗Spitali,埃里克·H。尼克
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2023年2月,
One hundred.
(9)
e975-e984;
DOI:10.1212 / WNL.0000000000201609
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文章数据和数据
数据
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图2
互相关患者BMD的生物标志物
肌酸和肌酐比(A)、肌肉生长抑制素(B)和肌酸激酶(C),肌酸之间的互相关/肌酐高比和肌肉生长抑制素(A),但不与CK (B, C)。BMD =贝克尔肌肉萎缩症;Cr / Crn =肌酸/肌酐比;CK =肌酸激酶。
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图3
在病人相关生物标记物的功能测试
动态评估随机拦截的北极星(A, B)和10米运行速度(C, D)相关高度随机拦截的肌酸/肌酐比和肌肉生长抑制素。Cr / Crn =肌酸/肌酐比;NSAA =北极星动态评估;TMRv = 10米的速度运行。
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图4
相关的生物标志物的年平均变化6 mwt BMD患者
年平均变化的适度与肌酸/肌酐6 mwt相关比肌肉生长抑制素(A)和(B)和肌酸激酶(C)的相关性弱。6 mwt = 6分钟步行试验;BMD =贝克尔肌肉萎缩症;Cr / Crn =肌酸/肌酐比;CK =肌酸激酶。
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图5
预测的并发使用年龄、功能性能抗肌萎缩蛋白和生物标志物
动态评估北极星(A), 10米运行测试(B)和(C) 6分钟步行的速度测试。在酒吧后面显示的数量为每个预测可用的数据点。Cr / Crn =肌酸/肌酐比;CK =肌酸激酶;dystr =抗肌萎缩蛋白;NSAA =北极星动态评估;咯= 10米运行测试;6 mwt = 6分钟步行试验。