Evidence map›Paper›PMID 39614241›Full record

ArticleBMC medical genomics2024

Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage-novel compound heterozygous mutations in hTTP.

Ruiqing Zhou, Jiahuan Wang, Ahui Wang, Shunqing Wang, Yumiao Li, Shilin Xu, Wenjian Mo

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 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. Article
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

7 authors.

Ruiqing Zhou *Department of Hematology, Guangzhou First People's Hospital, Guangzhou, 510080, China.
Jiahuan Wang *Department of Endocrinology, Huizhou Central People's Hospital, Huizhou, 561001, China.
Ahui WangDepartment of Clinical Laboratory, Guangzhou First People's Hospital, Guangzhou, 510080, China.
Shunqing WangDepartment of Hematology, Guangzhou First People's Hospital, Guangzhou, 510080, China.
Yumiao LiDepartment of Hematology, Guangzhou First People's Hospital, Guangzhou, 510080, China.
Shilin XuDepartment of Hematology, Guangzhou First People's Hospital, Guangzhou, 510080, China.
Wenjian MoDepartment of Hematology, Guangzhou First People's Hospital, Guangzhou, 510080, China. eywjmo@scut.edu.cn.

Funding

Medical Scientific Research Foundation of Guangdong Province A2023314Natural Science Foundation of China No.81600147
6 · The paper itself

Abstract

We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-year-old girl who suffered from thrombocytopenia and was misdiagnosed with immune thrombocytopenia for years until two failed gestations finally revealed the underlying cause. The novel compound heterozygous mutation c.2865G > A:p.Trp955X and c.721delG: p.Gly241fs in the ADAMTS13 gene were identified and are predicted to be associated with this disease. The patient responded to plasma therapy, including plasma infusion and plasma exchange, but renal dysfunction may be longstanding.

Indexed as

Abortion, SpontaneousADAMTS13 ProteinPurpura, Thrombocytopenic, IdiopathicPurpura, Thrombotic ThrombocytopenicAdolescentDiagnosis, DifferentialDiagnostic ErrorsFemaleHeterozygoteHumansMutationPlasma ExchangePregnancyADAMTS13 ProteinADAMTS13 protein, humanADAMTS13Hereditary thrombotic thrombocytopenic purpuraImmune thrombocytopeniaMutationPlasma infusion

Identifiers

PMID39614241
PMCPMC11605861

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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.