Evidence map›Paper›PMID 29476317›Full record

ArticleInternational journal of hematology2018

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki and 2 more

Erratum issuedAbstract readCase Reports
PubMed Publisher
In one paragraph

Article in International journal of hematology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 35% 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

2 citing papers in PubMed, 7 citations in OpenAlex.

  1. Mutations in the zebrafishBlood advances · 2019
    Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 1 country.

Motoshi SonodaDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. sonoda-m@pediatr.med.kyushu-u.ac.jp.ORCID http://orcid.org/0000-0003-0167-3322
Masataka IshimuraDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Yuko IchimiyaDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Eiko TerashiDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Katsuhide EguchiDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Yasunari SakaiDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Hidetoshi TakadaDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Asahito HamaDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Hitoshi KannoDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Tsutomu TokiDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Etsuro ItoDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Shouichi OhgaDepartment of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Kyushu University · JPHirosaki University · JPNagoya University · JPTokyo Women's Medical University · JP

Funding

Japan Agency for Medical Research and Development 15ek0109099h001Japan Agency for Medical Research and Development 15ek0109133
6 · The paper itself

Abstract

Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

Indexed as

Chromosome DeletionAdolescentAnemia, Diamond-BlackfanBlood TransfusionChromosomal Proteins, Non-HistoneChromosomes, Human, Pair 20Clonal EvolutionDisease ProgressionErythroblastosis, FetalErythropoiesisFemaleHematopoietic Stem Cell TransplantationHumansMyelodysplastic SyndromesPancytopeniaRepressor ProteinsChromosomal Proteins, Non-HistoneL3MBTL1 protein, humanRepressor Proteinsribosomal protein L5, humanRibosomal ProteinsTumor Suppressor ProteinsDeletion 20qL3MBTL1Myelodysplastic syndromePure red cell aplasiaRibosomopathy

Identifiers

PMID29476317
OpenAlexW2788473647

What OpenQuestion holds

Textmetadata
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.