Evidence map›Paper›PMID 33969109›Full record

ArticleWorld journal of clinical cases2021

Alström syndrome with a novel mutation of

Juan-Juan Zhang, Jun-Qi Wang, Man-Qing Sun, De Xu, Yuan Xiao, Wen-Li Lu, Zhi-Ya Dong

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

Article in World journal of clinical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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.

Juan-Juan ZhangDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Shanghai 200025, China.
Jun-Qi WangDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Shanghai 200025, China.
Man-Qing SunDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Shanghai 200025, China.
De XuDepartment 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.
Wen-Li LuDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Shanghai 200025, China.
Zhi-Ya DongDepartment of Pediatrics, Ruijin Hospital, Shanghai Jiao-Tong University, School of Medicine, Shanghai 200025, China. dzy831@126.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves' hyperthyroidism. CASE SUMMARY: An 8-year-old Chinese girl was diagnosed with AS. Two years later, Graves' hyperthyroidism developed with progressive liver dysfunction. The patient's clinical data were collected; DNA from peripheral blood of the proband, parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes. The association between the patient's genotype and clinical phenotype was analyzed. She carried the pathogenic compound heterozygous mutation of

conclusionThe manifestation of hyperthyroidism may suggest rapid progression of AS.

Indexed as

ALMS1Alström syndromeCase reportGraves’ hyperthyroidismProtein truncationStop-gain mutations

Identifiers

PMID33969109
PMCPMC8080750

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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.