Evidence map›Paper›PMID 34527903›Full record

ArticleMedicine and pharmacy reports2021

Diagnostic, treatment and outcome possibilities in achondroplasia.

Simona Bucerzan, Camelia Alkhzouz, Mirela Crisan, Diana Miclea, Carmen Asavoaie, Roxana Ilies, Paula Grigorescu-Sido

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Medicine and pharmacy reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 33% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. 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

7 authors at 1 institution in 1 country.

Simona BucerzanFirst Pediatric Clinic, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Camelia AlkhzouzFirst Pediatric Clinic, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Mirela CrisanEmergency Clinical Hospital for Children, First Pediatric Clinic Cluj-Napoca, Romania.
Diana MicleaMedical Genetic Department, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Carmen AsavoaieEmergency Clinical Hospital for Children, Cluj-Napoca, Romania.
Roxana IliesEmergency Clinical Hospital for Children, Cluj-Napoca, Romania.
Paula Grigorescu-SidoFirst Pediatric Clinic, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Clinical Emergency Hospital Bucharest · RO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionAchondroplasia is a common form of chondrodysplasia. It is transmitted by autosomal dominant trait. The disease is determined by mutations in receptor-3 gene of the fibroblast growth factor. The most frequent mutations are c.1138G>A and c.1183G>C; c.1138A. The diagnosis can usually be made on the basis of clinical characteristics and specific features on radiographs. It is not necessary to perform molecular testing in every child with a clinical diagnosis of achondroplasia.

methodThe study group consisted of 27 patients with achondroplasia. The method consisted of: clinical and radiological examinations. The DNA analasys was performed by PCR-RFLP technique.

results80 patients were diagnosed with bone dysplasia; 24 of them were diagnosed (on clinical and radiological basis) with achondroplasia. Out of this group, 16 patients were identified as heterozygotes for G1138A mutation in FGFR3 gene; 3 patients undergoing treatment with somatotropic hormone; the growth rate is improving from 0.1 cm/month to 0.5 cm/month.

conclusionsIn achondroplasia diagnosis is based on clinical and radiological criteria. It is the first study that reports the prevelance of this mutation in Romania.

Indexed as

achondroplasiachildchondrodysplasiamolecular diagnostic techniquesRomania

Identifiers

PMID34527903
PMCPMC8411826
OpenAlexW3199739961

What OpenQuestion holds

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Registered trials

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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.