Evidence map›Paper›PMID 39576359›Full record

ArticleAnnals of hematology2024

Novel biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.

Shota Tsuda, Atsushi Sakamoto, Hiroyuki Kawaguchi, Toru Uchiyama, Tadashi Kaname, Kumiko Yanagi, Shinji Kunishima, Akira Ishiguro

Abstract readCase Reports
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In one paragraph

Article in Annals of hematology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Shota TsudaCenter for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.
Atsushi SakamotoCenter for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. sakamoto-a@ncchd.go.jp.
Hiroyuki KawaguchiDepartment of Pediatrics, National Defense Medical College, Saitama, Japan.
Toru UchiyamaDepartment of Human Genetics, NCCHD, Tokyo, Japan.
Tadashi KanameDepartment of Genome Medicine, NCCHD, Tokyo, Japan.
Kumiko YanagiDepartment of Genome Medicine, NCCHD, Tokyo, Japan.
Shinji KunishimaDepartment of Medical Technology, School of Health Sciences, Gifu University of Medical Science, Gifu, Japan.
Akira IshiguroCenter for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. ishiguro-a@ncchd.go.jp.

Funding

Japan Agency for Medical Research and Development 18ek0109366h0001, 19ek0109366h0002, and 20ek0109366h003National Center for Child Health and Development 2021B-3, 2024B-3
6 · The paper itself

Abstract

GNE encodes a rate-limiting enzyme that regulates the biosynthesis of a sialic acid precursor. As sialic acids are critical for the platelet membrane and muscle fibers, GNE variants cause GNE-related thrombocytopenia and GNE-related myopathy. Here, we report a neonate with thrombocytopenia that initially met the criteria for neonatal allo-immune thrombocytopenia (NAIT) but was resistant to treatments and then revealed novel biallelic heterozygous GNE variants without any symptoms of myopathy when diagnosed. NAIT was initially diagnosed due to alloantibodies against HPA5 and its mismatch between the patient and his mother. However, intravenous immunoglobulin therapy and platelet transfusions showed minimal improvement in the platelet count. Platelet counts remained around 60 × 10

Indexed as

Multienzyme ComplexesMuscular DiseasesThrombocytopeniaAllelesChronic DiseaseHeterozygoteHumansInfant, NewbornMaleMutationMultienzyme ComplexesUDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinaseGNEMyopathyNAITThrombocytopenia

Identifiers

PMID39576359

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.