双。代谢面板的天生错误

布鲁克IVDr for NewbornScreening (B.I.QUANT-UR ne)

尿液选择性筛选通过NMR结合的目标analysis of metabolites including Inborn Error of Metabolism and other disease markers and non-targeted classification against healthy newborn models. Non-targeted screening enables the detection of all NMR-visible deviations from normal references, whether known or unknown. Figure 1 illustrates the identification of deviations from normality. All NMR spectra included inthereference model are combined in a so-called quantile plot, shown as a color band over the NMR spectrum. A spectrum from a new sample can be overlaid and tested for consistency with the model, i.e. all resonances will fit into the envelope defined by the model. This testing can be performed automatically in a uni- or multivariate fashion.The sample spectrum represents a canavan disease case. In the expansion of the overallNMR spectrum, signals of N-Acetylaspartic acidare clearly visible. As part of the B.I.QUANT-URpanel, N-Acetylaspartic acid can be identified andquantified automatically; however statistics would also reveal the existence of previously unseen deviations with the same certainty.

元数据的影响

除了使用正常模型外，还可以研究元数据对NMR光谱的影响。特别研究了出生后生命当天对NMR光谱的影响，并显示了生命鸡的第一天代谢特征的演变（图2）。当将新样品投射到此轨迹上时，可能会确定婴儿的发育是否遵循模型模式。显然，样本B对应于比平时发展更大的婴儿。样本A很有趣，因为它来自第5天，但属于第1和第2天。这可能表明开发延迟，因此建议进一步测试，因为延迟可能是尚未表现出的先天错误的第一个迹象通常的生物标志物。

在IEM背景下对解释的支持
代谢面板的Bruker IVDR先知误差（B.I.IEM面板）

仅用于研究用途的Bruker IVDR天生的代谢面板（B.I.IEM面板）（RUO）自动通过使用数据库Metagene对B.I.Quant-ul结果的诊断解释产生有价值的支持。医疗保健专业人员可以在诊断和管理新代谢的新生儿，儿童和成人的先天错误的背景下使用信息。B.I. Quant-ur的NMR代谢发现可以与Metagene现有数据库专用的Bruker版本相比，该数据库包含近1000种疾病和差异诊断，从而为临床医生提供大量数据促血管诊断。互动地，可以添加临床相关信息，这有助于潜在诊断的排名。这种面板方法不仅支持新陈代谢的先天错误诊断，还支持儿科领域的研究。