Evidence map›Paper›PMID 32600305›Full record

ReviewBMC pediatrics2020

Severe constipation as the first clinical manifestation in multiple endocrine neoplasia type 2B: a case report and literature review.

Lidan Zhang, Yan Guo, Lei Ye, Wenli Lu, Zhiya Dong, Wei Wang, Yuan Xiao

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in BMC pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 8% 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

  1. Pooled it
  2. Article
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  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Possible role of vitamin D in Covid-19 infection in pediatric population.Journal of endocrinological investigation · 2021
    Review
  12. [Suspected sepsis in a 10-week-old infant and SARS-CoV-2 detection in cerebrospinal fluid and pharynx].Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde · 2021
    Article
  13. Article
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  17. [Statement of the Austrian Society of Pneumology (ASP)].Wiener klinisches Magazin : Beilage zur Wiener klinischen Wochenschrift · 2020
    Review
  18. [Coronavirus: from common cold to severe pulmonary failure].Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde · 2020
    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

7 authors at 1 institution in 1 country.

Lidan ZhangDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Yan GuoDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Lei YeDepartment of Endocrine and Metabolism, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Wenli LuDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Zhiya DongDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Wei WangDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Yuan XiaoDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. xy11438@rjh.com.cn.ORCID 0000-0002-4927-8199
Shanghai Jiao Tong University · CN

Funding

Shanghai Municipal Commission of Health and Family Planning 201640368
6 · The paper itself

Abstract

backgroundThe occurrence of multiple endocrine neoplasia type 2B (MEN2B) in Asians is very rare. In particular, patients with intractable constipation as the main clinical manifestation are even rarer. Atypical clinical manifestations are likely to lead to a diagnostic delay. In this report, we described a case of a delayed diagnosis of MEN2B, and the first clinical manifestation was intractable constipation. CASE PRESENTATION: A female teenager had suffered from intractable constipation since infancy. Because the colonoscopy and biopsy results from local hospitals did not confirm the presence of congenital megacolon, the girl had been followed up at a local clinic for a long time. The diagnosis was not confirmed until thyroid masses were found in the Pediatric Department of Shanghai Ruijin Hospital when she was 12 years old. According to our detailed evaluation, she suffered from Hirschsprung disease (HD), growth retardation, medullary thyroid carcinoma (MTC) and mucosal neuroma due to a mutation in the RET gene. Thus, the diagnosis of MEN2B was confirmed. Afterward, the girl underwent several surgeries and was still being followed up before the article was published.

conclusionMEN2B has atypical clinical symptoms in the early stage. Refractory constipation may be the only clinical manifestation that lasts for several years. Therefore, we recommend that early screening and gene sequencing should be performed for patients with severe constipation due to HD to determine the cause of the disease and to improve the survival outcome.

Indexed as

Multiple Endocrine Neoplasia Type 2bAdolescentChildChinaConstipationDelayed DiagnosisFemaleHumansProto-Oncogene MasProto-Oncogene Proteins c-retMAS1 protein, humanProto-Oncogene MasProto-Oncogene Proteins c-retHirschsprung diseaseMedullary thyroid carcinomaMultiple endocrine neoplasia 2BMultiple mucosal neuromaProto-oncogene

Identifiers

PMID32600305
PMCPMC7322851
OpenAlexW3037609524

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.