PMID- 37957758
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20231123
IS  - 2050-7771 (Print)
IS  - 2050-7771 (Electronic)
IS  - 2050-7771 (Linking)
VI  - 11
IP  - 1
DP  - 2023 Nov 13
TI  - Exploring the feasibility of using long-term stored newborn dried blood spots to 
      identify metabolic features for congenital heart disease screening.
PG  - 97
LID - 10.1186/s40364-023-00536-y [doi]
LID - 97
AB  - Congenital heart disease (CHD) represents a significant contributor to both 
      morbidity and mortality in neonates and children. There's currently no analogous 
      dried blood spot (DBS) screening for CHD immediately after birth. This study was 
      set to assess the feasibility of using DBS to identify reliable metabolite 
      biomarkers with clinical relevance, with the aim to screen and classify CHD 
      utilizing the DBS. We assembled a cohort of DBS datasets from the California 
      Department of Public Health (CDPH) Biobank, encompassing both normal controls and 
      three pre-defined CHD categories. A DBS-based quantitative metabolomics method 
      was developed using liquid chromatography with tandem mass spectrometry 
      (LC-MS/MS). We conducted a correlation analysis comparing the absolute 
      quantitated metabolite concentration in DBS against the CDPH NBS records to 
      verify the reliability of metabolic profiling. For hydrophilic and hydrophobic 
      metabolites, we executed significant pathway and metabolite analyses 
      respectively. Logistic and LightGBM models were established to aid in CHD 
      discrimination and classification. Consistent and reliable quantification of 
      metabolites were demonstrated in DBS samples stored for up to 15 years. We 
      discerned dysregulated metabolic pathways in CHD patients, including deviations 
      in lipid and energy metabolism, as well as oxidative stress pathways. 
      Furthermore, we identified three metabolites and twelve metabolites as potential 
      biomarkers for CHD assessment and subtypes classifying. This study is the first 
      to confirm the feasibility of validating metabolite profiling results using 
      long-term stored DBS samples. Our findings highlight the potential clinical 
      applications of our DBS-based methods for CHD screening and subtype 
      classification.
CI  - (c) 2023. The Author(s).
FAU - Ceresnak, Scott R
AU  - Ceresnak SR
AD  - Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 
      94305, USA. ceresnak@stanford.edu.
FAU - Zhang, Yaqi
AU  - Zhang Y
AD  - College of Automation, Guangdong Polytechnic Normal University, 293 Zhongshan 
      Avenue West, Tianhe District, Guangzhou, 510665, China. yaqizhang@gpnu.edu.cn.
AD  - Department of Surgery, Stanford University School of Medicine, Stanford, CA, 
      94305, USA. yaqizhang@gpnu.edu.cn.
FAU - Ling, Xuefeng B
AU  - Ling XB
AD  - Department of Surgery, Stanford University School of Medicine, Stanford, CA, 
      94305, USA. bxling@stanford.edu.
FAU - Su, Kuo Jung
AU  - Su KJ
AD  - mProbe Inc, Palo Alto, CA, 94303, USA.
FAU - Tang, Qiming
AU  - Tang Q
AD  - mProbe Inc, Palo Alto, CA, 94303, USA.
FAU - Jin, Bo
AU  - Jin B
AD  - mProbe Inc, Palo Alto, CA, 94303, USA.
FAU - Schilling, James
AU  - Schilling J
AD  - mProbe Inc, Palo Alto, CA, 94303, USA.
FAU - Chou, C James
AU  - Chou CJ
AD  - Department of Surgery, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Han, Zhi
AU  - Han Z
AD  - Department of Surgery, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Floyd, Brendan J
AU  - Floyd BJ
AD  - Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Whitin, John C
AU  - Whitin JC
AD  - Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Hwa, Kuo Yuan
AU  - Hwa KY
AD  - The Center for Biomedical Industries, National Taipei University of Technology, 
      Taipei, Taiwan.
FAU - Sylvester, Karl G
AU  - Sylvester KG
AD  - Department of Surgery, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Chubb, Henry
AU  - Chubb H
AD  - Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Luo, Ruben Y
AU  - Luo RY
AD  - Department of Pathology, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - Tian, Lu
AU  - Tian L
AD  - Department of Biomedical Data Science, Stanford University School of Medicine, 
      Stanford, CA, 94305, USA.
FAU - Cohen, Harvey J
AU  - Cohen HJ
AD  - Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, 
      94305, USA.
FAU - McElhinney, Doff B
AU  - McElhinney DB
AD  - Departments of Cardiothoracic Surgery, Stanford University School of Medicine, 
      Stanford, CA, 94305, USA.
LA  - eng
PT  - Letter
DEP - 20231113
PL  - England
TA  - Biomark Res
JT  - Biomarker research
JID - 101607860
EIN - Biomark Res. 2023 Nov 22;11(1):101. PMID: 37993911
PMC - PMC10644604
OTO - NOTNLM
OT  - Congenital Heart Disease
OT  - Dried blood spot
OT  - LC-MS/MS
OT  - Metabolite profiling
OT  - Screening and classification
COIS- The authors declare no competing interests.
EDAT- 2023/11/14 06:42
MHDA- 2023/11/14 06:43
PMCR- 2023/11/13
CRDT- 2023/11/14 00:17
PHST- 2023/10/21 00:00 [received]
PHST- 2023/10/30 00:00 [accepted]
PHST- 2023/11/14 06:43 [medline]
PHST- 2023/11/14 06:42 [pubmed]
PHST- 2023/11/14 00:17 [entrez]
PHST- 2023/11/13 00:00 [pmc-release]
AID - 10.1186/s40364-023-00536-y [pii]
AID - 536 [pii]
AID - 10.1186/s40364-023-00536-y [doi]
PST - epublish
SO  - Biomark Res. 2023 Nov 13;11(1):97. doi: 10.1186/s40364-023-00536-y.