Evidence map›Paper›PMID 33518579›Full record

ArticleInternal medicine (Tokyo, Japan)2021

Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura.

Toshiki Mushino, Takayuki Hiroi, Yusuke Yamashita, Norihiko Suzaki, Hiroyuki Mishima, Masaki Ueno, Akira Kinoshita, Koichi Minami, Kohsuke Imai, Ko-Ichiro Yoshiura and 2 more

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2021. 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
0.3field-weighted citation impact, top 47% 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, 6 citations in OpenAlex.

  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

12 authors at 3 institutions in 1 country.

Toshiki MushinoDepartment of Hematology/Oncology, Wakayama Medical University, Japan.
Takayuki HiroiDepartment of Hematology/Oncology, Wakayama Medical University, Japan.
Yusuke YamashitaDepartment of Hematology/Oncology, Wakayama Medical University, Japan.
Norihiko SuzakiSecond Department of Surgery, Wakayama Medical University, Japan.
Hiroyuki MishimaDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Japan.
Masaki UenoSecond Department of Surgery, Wakayama Medical University, Japan.
Akira KinoshitaDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Japan.
Koichi MinamiDepartment of Pediatrics, Wakayama Medical University, Japan.
Kohsuke ImaiDepartment of Pediatrics, Tokyo Medical and Dental University, Japan.
Ko-Ichiro YoshiuraDepartment of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Japan.
Takashi SonokiDepartment of Hematology/Oncology, Wakayama Medical University, Japan.
Shinobu TamuraDepartment of Hematology/Oncology, Wakayama Medical University, Japan.
Wakayama Medical University · JPNagasaki University · JPTokyo Medical and Dental University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Kabuki syndrome is characterized by multiple systemic anomalies and intellectual disability. It is complicated with immunodeficiencies and autoimmune disorders. The syndrome is caused by a mutation in the KMT2D gene. We herein report a case of a Kabuki syndrome with developing immune thrombocytopenic purpura (ITP) and progressive splenomegaly. Laparoscopic splenectomy was performed and the patients' symptoms quickly disappeared with platelet recovery. After this operation, the patient had no severe complications. A sequence analysis of the KMT2D gene identified a pathogenic mutation frequently associated with ITP. Laparoscopic splenectomy is therefore considered to be a good therapeutic option for recurrent ITP and symptomatic splenomegaly with Kabuki syndrome.

Indexed as

Hematologic DiseasesLaparoscopyPurpura, Thrombocytopenic, IdiopathicVestibular DiseasesAbnormalities, MultipleAdultFaceHumansSplenectomySplenomegalyimmune thrombocytopenic purpuraKabuki syndromeKMT2Dlaparoscopic splenectomysplenomegaly

Identifiers

PMID33518579
PMCPMC8263171
OpenAlexW3126898726

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.