Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation.

Zhongyang Ma, Dongjun Li, Xue Yang, Juan Liang, Yiping Zhu

Open access · goldAbstract readCase Reports

In one paragraph

Article in Frontiers in genetics, 2022. 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

0.8field-weighted citation impact, top 24% 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, 4 citations in OpenAlex.

A novel and apparentFrontiers in pediatrics · 2024
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

5 authors at 2 institutions in 1 country.

Zhongyang MaDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Dongjun LiDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Xue YangDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Juan LiangDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Yiping ZhuDepartment of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Sichuan University · CNWest China Second University Hospital of Sichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked sideroblastic anaemia (XLSA) is an inherited disorder caused by mutations in genes encoding proteins involved in the biosynthesis of haem. The pathogenic gene, as well as the pathogenesis and diagnosis of XLSA, have been fully elucidated in previous studies. However, only a few new advances have been made in managing XLSA in recent years, and blood transfusion remains the primary treatment. We report a case of umbilical cord blood haematopoietic stem cell transplantation in a male infant diagnosed with XLSA who was born with asphyxia due to severe anaemia. Early hepatic vein occlusion occurred after transplantation. However, this complication was rapidly controlled after active treatment, and the child's quality of life improved significantly. Haematopoietic stem cell transplantation is a promising alternative treatment for XLSA.

Indexed as

ALAS2case reportcongenital sideroblastic anaemiacord blood transplantationhaematopoietic stem cell transplantationvein occlusion liver diseaseX-linked sideroblastic anaemiaXLSA

Identifiers

PMID36457748

DOI10.3389/fgene.2022.1009988

PMCPMC9705730

OpenAlexW4309026744

What OpenQuestion holds

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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.