New tools and approaches to newborn screening: ready to open Pandora's box?

Fıçıcıoğlu, Can

doi:10.1101/mcs.a001842

Cited by 13 publications

(18 citation statements)

References 32 publications

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“…Screening metabolite abundances in the blood of newborns has allowed clinicians to effectively ameliorate potentially devastating effects of inborn errors of metabolism since the 1960s by reducing the time to diagnose and treat these disorders that occur in thousands of infants per year [4,5]. By applying targeted mass spectrometry (MS) techniques, 49 inborn errors of metabolism can be identified at birth [6]. This highly successful program clearly demonstrates the utility of detecting abnormalities in the concentrations of small molecules, and that metabolomics data can transition into practical diagnostic tests.…”

Section: Introductionmentioning

confidence: 99%

Metabolomic Insights into Human Arboviral Infections: Dengue, Chikungunya, and Zika Viruses

Byers

Fleshman

Perera

et al. 2019

Viruses

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The global burden of arboviral diseases and the limited success in controlling them calls for innovative methods to understand arbovirus infections. Metabolomics has been applied to detect alterations in host physiology during infection. This approach relies on mass spectrometry or nuclear magnetic resonance spectroscopy to evaluate how perturbations in biological systems alter metabolic pathways, allowing for differentiation of closely related conditions. Because viruses heavily depend on host resources and pathways, they present unique challenges for characterizing metabolic changes. Here, we review the literature on metabolomics of arboviruses and focus on the interpretation of identified molecular features. Metabolomics has revealed biomarkers that differentiate disease states and outcomes, and has shown similarities in metabolic alterations caused by different viruses (e.g., lipid metabolism). Researchers investigating such metabolomic alterations aim to better understand host–virus dynamics, identify diagnostically useful molecular features, discern perturbed pathways for therapeutics, and guide further biochemical research. This review focuses on lessons derived from metabolomics studies on samples from arbovirus-infected humans.

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Section: Introductionmentioning

confidence: 99%

Metabolomic Insights into Human Arboviral Infections: Dengue, Chikungunya, and Zika Viruses

Byers

Fleshman

Perera

et al. 2019

Viruses

View full text Add to dashboard Cite

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“…One important component of this system is the panel of screening tests itself. However, new tests are being added to screening panels without the funding or infrastructure needed to provide adequate care, follow-up, and clinical services to newborns and their families in the event of a positive result [13]; only one component of the system is being strengthened, with little attention to other equally or even more important ones. It is noteworthy that many health professionals still also have little or marginal understanding of neonatal screening.…”

Section: Discussionmentioning

confidence: 99%

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

Guimarães

Rabelo

Figueiredo

2019

IJNS

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Background: To ascertain the degree of knowledge of postpartum women about important aspects related to the neonatal screening process and whether differences of opinion exist between those who deliver in low-complexity versus high-complexity health facilities (low-risk versus high-risk pregnancies, respectively). Methods: This was a prospective, cross-sectional, questionnaire-based study. The sample consisted of postpartum women recruited from 2013 to 2015 at public maternity hospitals in the city of Niterói, Brazil. Participants were divided into two groups and completed a questionnaire consisting of Likert-scored items. Continuous variables were analyzed with the Mann-Whitney test, and categorical variables, with Fisher’s test. A confirmatory factor analysis of participants’ answers was performed. Results: Of 188 women enrolled, 54 (28.7%) had incomplete elementary education; 119 (62.2%) had attended more than six antenatal care visits. The mean age was 25.57 years. Nearly all women (n = 179, 95.2%) were roomed-in with their infants. Knowledge of neonatal screening was very similar in the high-complexity and low-complexity groups. Divergences were limited to items regarding the risks of neonatal screening. Conclusions: The degree of knowledge among postpartum women was similar among high- and low-complexity facilities. Those who attended high-complexity facilities had longer hospital stays and greater adherence to ethical issues regarding neonatal screening.

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“…The internal standards, as well as the extraction solution, were obtained from the NeoBase 2Non-Derivatized MSMS Kit (Perkin Elmer Life and Analytical Sciences, Turku, Finland). Mass spectra were acquired in positive electrospray ionization, using multiple reaction monitoring (MRM) as acquisition mode, using an Ultra-Performance Liquid Chromatography/Tandem Quadrupole Mass Spectrometry (UPLC/MS/MS) system (Acquity UPLC I-Class coupled to a Xevo TQD, Waters Corp., Manchester, UK) [7][8][9]. Data were processed by MassLynx V4.2 and NeoLynx Software (Water Corp.).…”

Section: Newborn Screening Testmentioning

confidence: 99%

“…In order to evaluate the metabolic alterations, further analyses for diagnostic confirmation were performed. UK) [7][8][9]. Data were processed by MassLynx V4.2 and NeoLynx Software (Water Corp.).…”

Section: Newborn Screening Testmentioning

confidence: 99%

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

et al. 2020

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Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy. In Italy, newborn screening (NBS) by MS/MS allows the diagnostic suspicion of PKU and its variants (Hyperphenylalaninemia (HPA), Tetrahydrobiopterin (BH4) synthesis deficiency, and Tetrahydrobiopterin (BH4) recycling deficiency) through the quantification of Phenylalanine (Phe) and the Phenylalanine/Tyrosine (Phe/Tyr) ratio in dried blood Spot (DBS) samples. Here, we report a case of an HPA whose suspicion was possible with expanded NBS, even if the normal-weight newborn was in total parenteral nutrition (TPN). It is known that TPN may present metabolic alterations, mainly for amino acids at NBS in MS/MS, frequently causing false positives. Actually, TPN is considered a special protocol in NBS, requiring several sample collections. In particular, a DBS sample is required before TPN, at basal time point (48 h after birth) and 72 h after the end of the procedure. In the case we report, even if the first DBS sample (before TPN) resulted negative, the repeated NBS tests revealed increased levels of Phe and dramatically high Phe/Tyr ratio. Thus, the newborn was recalled, and the NBS test was repeated several times before that HPA suspicion was confirmed by other specific biochemical tests. This case highlights the importance of Phe/Tyr ratio, only detectable by MS/MS analysis, in supporting the diagnostic suspicion during amino acids administration in the neonatal period.

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New tools and approaches to newborn screening: ready to open Pandora's box?

Cited by 13 publications

References 32 publications

Metabolomic Insights into Human Arboviral Infections: Dengue, Chikungunya, and Zika Viruses

Metabolomic Insights into Human Arboviral Infections: Dengue, Chikungunya, and Zika Viruses

Knowledge about Neonatal Screening among Postpartum Women and Complexity Level of Birthing Facilities

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

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