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干血斑酰基肉碱谱受红细胞压积影响:极低出生体重儿新生儿筛查样本研究。

The Acylcarnitine Profile in Dried Blood Spots is Affected by Hematocrit: A Study of Newborn Screening Samples in Very-Low-Birth-Weight Infants.

机构信息

Department of Neonatology, Saitama Children's Medical Center, Saitama, Japan.

Department of Pediatrics, Saitama Medical Center, Saitama Medical University, Kawagoe, Saitama, Japan.

出版信息

Am J Perinatol. 2022 Aug;39(11):1236-1240. doi: 10.1055/s-0040-1721849. Epub 2020 Dec 29.

Abstract

OBJECTIVE

The acylcarnitine profile is analyzed in dried blood spots (DBS) to screen for inborn errors of metabolism. Hematocrit (Ht) is known to affect the result of quantitative analyses of DBS samples; however, the effects of Ht on the acylcarnitine profiles in DBS have not been studied in actual samples from newborns.

STUDY DESIGN

The acylcarnitine profiles in DBS for newborn screening tests and Ht levels of very-low-birth-weight infants were obtained from medical records. We investigated the relationship between Ht and each acylcarnitine using Pearson's correlation coefficient (r).

RESULTS

We examined 77 newborns in this study. There was a significantly positive correlation between Ht and C0, C2, C12, C16, C18, C18:1, and C18:1-OH, respectively ( < 0.0025). The correlation was the greatest on C2 ( = 0.59).

CONCLUSION

This study clarifies that Ht and C0, C2, C12, C16, C18, C18:1, and C18:1-OH are significantly correlated in DBS, which is consistent with previous studies. Hence, the effect of Ht should be considered when interpreting the results of acylcarnitine profiles in DBS.

KEY POINTS

· Acylcarnitine profile in dried blood spots (DBS) is affected by the hematocrit (Ht) of the sample.. · There are positive correlations between Ht and C0, C2, C12, C16, C18, and C18:1-OH in DBS.. · We should be aware of the effects of Ht on acylcarnitine profiles in DBS..

摘要

目的

通过分析干血斑(DBS)中的酰基肉碱谱来筛查先天性代谢缺陷。已知红细胞压积(Ht)会影响 DBS 样本的定量分析结果;然而,在新生儿的实际 DBS 样本中,Ht 对酰基肉碱谱的影响尚未得到研究。

研究设计

从病历中获取新生儿筛查试验的 DBS 酰基肉碱谱和极低出生体重儿的 Ht 水平。我们使用 Pearson 相关系数(r)研究 Ht 与每个酰基肉碱之间的关系。

结果

本研究共检查了 77 名新生儿。Ht 与 C0、C2、C12、C16、C18、C18:1 和 C18:1-OH 分别呈显著正相关(<0.0025)。C2 上的相关性最大(=0.59)。

结论

本研究阐明了 Ht 与 DBS 中的 C0、C2、C12、C16、C18、C18:1 和 C18:1-OH 显著相关,与以往的研究一致。因此,在解释 DBS 中酰基肉碱谱的结果时,应考虑 Ht 的影响。

关键点

· DBS 中的酰基肉碱谱受样本红细胞压积(Ht)的影响。· DBS 中 Ht 与 C0、C2、C12、C16、C18 和 C18:1-OH 之间存在正相关。· 我们应该意识到 Ht 对 DBS 中酰基肉碱谱的影响。

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