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Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Overview of attention for article published in Orphanet Journal of Rare Diseases, August 2017
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About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (64th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

Mentioned by

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2 tweeters
wikipedia
1 Wikipedia page

Citations

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22 Dimensions

Readers on

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28 Mendeley
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Title
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
Published in
Orphanet Journal of Rare Diseases, August 2017
DOI 10.1186/s13023-017-0687-0
Pubmed ID
Authors

Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare, autosomal-recessive mitochondrial disorder caused by TYMP mutations presenting with a multisystemic, often lethal syndrome of progressive leukoencephalopathy, ophthalmoparesis, demyelinating neuropathy, cachexia and gastrointestinal dysmotility. Hemodialysis (HMD) has been suggested as a treatment to reduce accumulation of thymidine and deoxyuridine. However, all studies so far have failed to measure the toxic metabolites in cerebrospinal fluid (CSF), which is the crucial compartment for CNS damage.Our study is the first prospective, longitudinal investigation, exploiting detailed serial testing of predefined clinical and molecular outcome parameters (including serial CSF assessments) in a 29-year-old MNGIE patient undergoing 1 year of extensive HMD. We demonstrate that HMD only transiently restores increased serum and urine levels of thymidine and deoxyuridine, but fails to reduce CSF levels of the toxic metabolites and is ineffective to influence neurological function. These findings have direct important implications for clinical practice: They prevent a burdensome, long-term invasive, but ultimately probably ineffective procedure in future MNGIE patients.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 28 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 18%
Student > Ph. D. Student 5 18%
Student > Master 3 11%
Student > Bachelor 2 7%
Professor > Associate Professor 2 7%
Other 6 21%
Unknown 5 18%
Readers by discipline Count As %
Medicine and Dentistry 6 21%
Biochemistry, Genetics and Molecular Biology 4 14%
Neuroscience 3 11%
Agricultural and Biological Sciences 2 7%
Psychology 2 7%
Other 4 14%
Unknown 7 25%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 16 July 2018.
All research outputs
#5,583,376
of 18,404,646 outputs
Outputs from Orphanet Journal of Rare Diseases
#754
of 1,962 outputs
Outputs of similar age
#96,403
of 280,632 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#3
of 11 outputs
Altmetric has tracked 18,404,646 research outputs across all sources so far. This one has received more attention than most of these and is in the 68th percentile.
So far Altmetric has tracked 1,962 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.6. This one has gotten more attention than average, scoring higher than 60% of its peers.
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 280,632 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 64% of its contemporaries.
We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.