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Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany

Overview of attention for article published in World Journal of Pediatrics, January 2017
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Title
Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany
Published in
World Journal of Pediatrics, January 2017
DOI 10.1007/s12519-017-0003-z
Pubmed ID
Authors

Gramer, Gwendolyn, Abdoh, Ghassan, Ben-Omran, Tawfeg, Shahbeck, Noora, Ali, Rehab, Mahmoud, Laila, Fang-Hoffmann, Junmin, Hoffmann, Georg F, Al Rifai, Hilal, Okun, Jürgen G, Gwendolyn Gramer, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbeck, Rehab Ali, Laila Mahmoud, Junmin Fang-Hoffmann, Georg F. Hoffmann, Hilal Al Rifai, Jürgen G. Okun

Abstract

Newborn screening is a precondition for early diagnosis and succeßsful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers. Proposed cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany. Over a 12 months period, the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%, while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar. In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation disorder. Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cut-offs used in the proposed new strategy. In addition, an adapted strategy for Germany using methionine, methionine-phenylalanine-ratio and propionylcarnitine as first-tier, and homocysteine as a second-tier test was also positively evaluated retrospectively. The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening panel, while lowering the recall rate. An adapted second-tier strategy is presented for screening in Germany and will be prospectively evaluated over the next years in a pilot project named "Newborn Screening 2020".

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Unspecified 3 33%
Other 1 11%
Student > Master 1 11%
Student > Bachelor 1 11%
Student > Ph. D. Student 1 11%
Other 2 22%
Readers by discipline Count As %
Unspecified 3 33%
Biochemistry, Genetics and Molecular Biology 3 33%
Agricultural and Biological Sciences 1 11%
Neuroscience 1 11%
Medicine and Dentistry 1 11%
Other 0 0%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 February 2018.
All research outputs
#9,990,853
of 12,481,741 outputs
Outputs from World Journal of Pediatrics
#101
of 182 outputs
Outputs of similar age
#234,068
of 334,630 outputs
Outputs of similar age from World Journal of Pediatrics
#3
of 5 outputs
Altmetric has tracked 12,481,741 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 182 research outputs from this source. They receive a mean Attention Score of 2.7. This one is in the 28th percentile – i.e., 28% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 334,630 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than 2 of them.