Evidence map›Paper›PMID 39211293›Full record

ArticleLeukemia research reports2024

Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation.

Mari Kagajo, Kyoko Moritani, Mayumi Iwamoto, Machiko Miyamoto, Tsuyoshi Imai, Motoharu Hamada, Manabu Wakamatsu, Hideki Muramatsu, Minenori Eguchi-Ishimae, Mariko Eguchi

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

Article in Leukemia research reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

10 authors.

Mari KagajoDepartment of Pediatrics, Ehime University Graduate School of Medicine, Japan.
Kyoko MoritaniDepartment of Pediatrics, Ehime University Graduate School of Medicine, Japan.
Mayumi IwamotoDepartment of Pediatrics, Ehime University Graduate School of Medicine, Japan.
Machiko MiyamotoDepartment of Pediatrics, Ehime University Graduate School of Medicine, Japan.
Tsuyoshi ImaiDepartment of Pediatric Hematology and Oncology, NHO Shikoku Medical Center for Children and Adults, Japan.
Motoharu HamadaDepartment of Virology, Nagoya City University Graduate School of Medical Sciences, Japan.
Manabu WakamatsuDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
Hideki MuramatsuDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Japan.
Minenori Eguchi-IshimaeDepartment of Pediatrics, Ehime University Graduate School of Medicine, Japan.
Mariko EguchiDepartment of Pediatrics, Ehime University Graduate School of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed hematopoietic stem cell transplantation in two patients with AMeD syndrome and isochromosome 1q. AMeD syndrome with myelodysplastic syndrome or acute myeloblastic leukemia generally has a poor prognosis; however, early diagnosis may improve treatment response. Although the gain of 1q has been considered as a form of early clonal evolution in Fanconi anemia, it may be an equally important finding observed in AMeD syndrome.

Indexed as

AMeD syndromeHematopoietic stem cell transplantationInherited bone marrow failureIsochromosome 1q

Identifiers

PMID39211293
PMCPMC11359758

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.