Evidence map›Paper›PMID 39350127›Full record

ReviewOrphanet journal of rare diseases2024

Challenges in the diagnosis of fibrodysplasia ossificans progressiva with the ACVR1 mutation (c.774G > C, p.R258S): a case report and review of literature.

Siqi Yang, Rongrong Cui, Jialin Li, Ruchun Dai

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

Review in Orphanet journal of rare diseases, 2024. 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
–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

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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.

  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

4 authors.

Siqi YangNational Clinical Research Center for Metabolic Diseases, Institute of Metabolism and Endocrinology, Central South University, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China.
Rongrong CuiNational Clinical Research Center for Metabolic Diseases, Institute of Metabolism and Endocrinology, Central South University, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China.
Jialin LiNational Clinical Research Center for Metabolic Diseases, Institute of Metabolism and Endocrinology, Central South University, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China.
Ruchun DaiNational Clinical Research Center for Metabolic Diseases, Institute of Metabolism and Endocrinology, Central South University, Hunan Provincial Key Laboratory of Metabolic Bone Diseases, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, 139 Middle Renmin Road, Changsha, Hunan, 410011, China. dairuchun@csu.edu.cn.ORCID 0000-0002-2058-9815

Funding

Health Commission of Hunan Province grant C202303066112National Natural Science Foundation of China grant 81670804Natural Science Foundation of Hunan Province grant 2021JJ30927
6 · The paper itself

Abstract

The diagnosis of fibrodysplasia ossificans progressiva is missed or delayed because of its insidious precursors, especially in uncharacteristic cases. Fibrodysplasia ossificans progressiva, which mostly displayed the mutation c.617G > A, p.R206H, is characterized by congenital malformation of the great toe and progressive extra-skeletal ossification of ligaments, tendons and muscles. The mutation c.774G > C, p.R258S (HGVS: NC_000002.11:g.158626896 C > G) in activin A receptor type I is an infrequent etiology of fibrodysplasia ossificans progressiva and can present different clinical features. Awareness of these multiple clinical features will help endocrinologists in the early diagnosis of fibrodysplasia ossificans progressiva. We report a case of fibrodysplasia ossificans progressiva with the activin A receptor type I mutation c.774G > C, p.R258S, which was diagnosed before its ossifying period.

Indexed as

Activin Receptors, Type IMyositis OssificansHumansMutationActivin Receptors, Type IACVR1 protein, humanEarly diagnosisFibrodysplasia ossificans progressivaMutation

Identifiers

PMID39350127
PMCPMC11443894

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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.