Evidence map›Paper›PMID 32991402›Full record

ArticleMedicine2020

A gene missense mutation in diffuse pulmonary lymphangiomatosis with thrombocytopenia: A case report.

Guixian Zheng, Haijuan Tang, Rui Su, Yi Liang, Zhiyi He, Jianquan Zhang, Jingmin Deng, Jing Bai, Xiaoning Zhong

Open access · goldAbstract readCase Reports
In one paragraph

Article in Medicine, 2020. 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
0.2field-weighted citation impact, top 44% of its field
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, 3 citations in OpenAlex.

  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

9 authors at 2 institutions in 1 country.

Guixian ZhengDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Haijuan TangDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Rui SuDepartment of Respiratory Medicine, Fourth Affiliated Hospital of Guangxi Medical University, Liuzhou, Guangxi, China.
Yi LiangDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Zhiyi HeDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Jianquan ZhangDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Jingmin DengDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Jing BaiDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Xiaoning ZhongDepartment of Respiratory Medicine, First Affiliated Hospital of Guangxi Medical University, Nanning.
Guangxi Medical University · CNFirst Affiliated Hospital of GuangXi Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionDiffuse pulmonary lymphangiomatosis (DPL) is a rare condition. Most patients with DPL present dyspnea, cough, expectoration, and hemoptysis. There are few reports of DPL accompanied by thrombocytopenia, whose cause remains unknown. PATIENT CONCERNS: An 18-year-old male patient presented with recurrent cough, expectoration, and dyspnea for 5 years, and thrombocytopenia was observed during a 2-month follow-up. DIAGNOSIS: Chest computed tomography showed diffuse patchy shadows in both lungs, and pleural and pericardial effusions. Immunohistochemical lung tissue staining showed lymphatic and vascular endothelial cells positive for D2-40, CD31 and CD34. Routine blood test revealed platelets at 62 × 10 cells/L during follow-up. Bone marrow biopsy was normal. Ultrasound revealed no hepatosplenomegaly. Finally, the patient was diagnosed with DPL accompanied by thrombocytopenia.

interventionsHe was treated by subtotal pericardial resection, thoracocentesis, and anti-infective therapy. Oral prednisone was administered for 2 months. OUTCOMES: The symptoms of cough and shortness of breath were improved, but thrombocytopenia persisted. We investigated the cause of thrombocytopenia. Whole-exome sequencing identified a mutation in exon 3 of the TNFRSF13B gene in this patient.

conclusionDPL may present with thrombocytopenia and DIC. Patients with thrombocytopenia but not DIC and splenomegaly should be screened for gene mutations.

Indexed as

AdolescentChildExome SequencingHumansLung DiseasesLymphangiectasisMaleMutation, MissenseThrombocytopeniaTomography, X-Ray ComputedTransmembrane Activator and CAML Interactor ProteinTNFRSF13B protein, humanTransmembrane Activator and CAML Interactor Protein

Identifiers

PMID32991402
PMCPMC7523817
OpenAlexW3088826535

What OpenQuestion holds

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LicenceCC BY
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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.