Evidence map›Paper›PMID 39309903›Full record

ArticleHeliyon2024

Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic.

Lixiu Cai, Shuangyan Chen, Yu Zhou, Hao Yu, Ya Li, Aiping Bao, Jin Zhang, Qin Lv

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

Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

8 authors.

Lixiu CaiDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Shuangyan ChenDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Yu ZhouDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Hao YuDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Ya LiDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Aiping BaoDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Jin ZhangDepartment of Medical Laboratory, The First People's Hospital of Shuangliu, Chengdu/West China (Airport) Hospital Sichuan University, No.120, Chengbei Shangjie, Dongsheng Street, Shuangliu District, Chengdu, 610200, Sichuan Province, China.
Qin LvDepartment of Respiratory and Critical Care Medicine, Sichuan Provincial People's Hospital, No.32, West 2nd Section, 1st Ring Road, Qingyang District, Chengdu, 610072, Sichuan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This paper presents a detailed analysis of a case initially misdiagnosed as Idiopathic Thrombocytopenic Purpura (ITP), which was later correctly identified as MYH9-related disease (MYH9-RD), a rare genetic disorder characterized by thrombocytopenia, large platelets, and Döhle-like inclusion bodies in neutrophils. Using advanced slide reading technology, our team identified hallmark features of MYH9-RD in the patient's blood samples, leading to genetic testing that confirmed a spontaneous mutation in the MYH9 gene. This report highlights the diagnostic journey, emphasizing the crucial role of recognizing specific hematologic signs to accurately diagnose MYH9-RD. By comparing our findings with existing literature, we highlight the genetic underpinnings and clinical manifestations of MYH9-RD, emphasizing the necessity for heightened awareness and diagnostic precision in clinical practice to prevent similar cases of misdiagnosis. This case demonstrates the importance of integrating genetic testing into routine diagnostic protocols for unexplained thrombocytopenia, paving the way for improved patient care and treatment outcomes.

Indexed as

Dohle-like bodiesGenetic mutationGiant plateletsMisdiagnosisMYH9-RDThrombocytopenia

Identifiers

PMID39309903
PMCPMC11415704

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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.