Evidence map›Paper›PMID 35418827›Full record

ArticleMolecular syndromology2022

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.

Merve Koç Yekedüz, Neslihan Doğulu, Ümmühan Öncül, Engin Köse, Serdar Ceylaner, Fatma Tuba Eminoğlu

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

Article in Molecular syndromology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.1field-weighted citation impact, top 55% 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, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  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

6 authors at 2 institutions in 1 country.

Merve Koç YekedüzDepartment of Pediatric Metabolism, Children's Hospital, Ankara University Faculty of Medicine, Ankara, Turkey.
Neslihan DoğuluDepartment of Pediatric Metabolism, Children's Hospital, Ankara University Faculty of Medicine, Ankara, Turkey.
Ümmühan ÖncülDepartment of Pediatric Metabolism, Children's Hospital, Ankara University Faculty of Medicine, Ankara, Turkey.
Engin KöseDepartment of Pediatric Metabolism, Children's Hospital, Ankara University Faculty of Medicine, Ankara, Turkey.
Serdar CeylanerIntergen Genetics and Rare Diseases Diagnosis Research & Application Center, Ankara, Turkey.
Fatma Tuba EminoğluDepartment of Pediatric Metabolism, Children's Hospital, Ankara University Faculty of Medicine, Ankara, Turkey.
Ankara University · TRIntergen (Turkey) · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mevalonate kinase deficiency (MKD) is a periodic fever syndrome. Nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra are the most common treatments. However, colchicine is considered insufficient in disease control. In this case report, we present an 8-month-old infant with an atypical presentation of MKD. She had recurrent fever episodes, diarrhea, and lethargy. Elevated mevalonic acid was not detected in the urine. However, the genetic investigation showed a novel pathogenic heterozygous c.925G>C (p.Gly309Arg) variant and a heterozygous c.1129G>A (p.Val377Ile) mutation in the

Indexed as

ColchicineMevalonate kinase deficiencyPeriodic fever syndromes

Identifiers

PMID35418827
PMCPMC8928187
OpenAlexW3208652221

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.