Evidence map›Paper›PMID 38077808›Full record

ArticleResearch and practice in thrombosis and haemostasis2023

Trisomy X conferring moderate hemophilia A by extremely skewed X-chromosome inactivation.

Keiko Shinozawa, Kenji Niiya, Seiichi Fujimoto, Masato Bingo, Katsuyuki Fukutake, Ei Kinai

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

Article in Research and practice in thrombosis and haemostasis, 2023. 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

6 authors.

Keiko ShinozawaDepartment of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.
Kenji NiiyaDepartment of Internal Medicine, Junpukai Health Management Center, Okayama, Japan.
Seiichi FujimotoDepartment of Pediatrics, Chugoku Central Hospital, Hiroshima, Japan.
Masato BingoDepartment of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.
Katsuyuki FukutakeDepartment of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.
Ei KinaiDepartment of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hemophilia carriers occasionally present with bleeding tendency due to skewed inactivation of normal Key Clinical Question: Can extreme skewing of X-chromosome inactivation (XCI) with trisomy X cause low factor (F) VIII activity and bleeding in a hemophilia carrier?. Clinical Approach: A young female with low FVIII activity (2 IU/dL), who presented with history of frequent bleeding and Conclusion: Extreme skewing of XCI can occur even in hemophilia carriers with trisomy X, conferring frequent bleeding and low FVIII activity.

Indexed as

hemophilia Ahemophilia carriermethylationskewed X-chromosome inactivationtrisomy XX chromosome

Identifiers

PMID38077808
PMCPMC10704502

What OpenQuestion holds

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Registered trials

None linked

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.