Evidence map›Paper›PMID 34946900›Full record

ArticleGenes2021

NGS Evaluation of a Bernese Cohort of Unexplained Erythrocytosis Patients.

Katarzyna Aleksandra Jalowiec, Kristina Vrotniakaite-Bajerciene, Annina Capraru, Tatiana Wojtovicova, Raphael Joncourt, Alicia Rovó, Naomi A Porret

Open access · goldAbstract readEvaluation Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 26% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.Mediterranean journal of hematology and infectious diseases · 2024
    Article
  3. Article
  4. 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.

Katarzyna Aleksandra JalowiecDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.
Kristina Vrotniakaite-BajercieneDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.
Annina CapraruDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.
Tatiana WojtovicovaDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.
Raphael JoncourtDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.
Alicia RovóDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.ORCID 0000-0002-7757-4753
Naomi A PorretDepartment of Hematology and Central Hematology Laboratory, Inselspital, University Hospital Bern, University of Bern, 3008 Bern, Switzerland.
University of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

(1) Background: Clinical and molecular data on patients with unexplained erythrocyto-sis is sparse. We aimed to analyze the clinical and molecular features of patients with congenital erythrocytosis in our tertiary reference center. (2) Methods: In 34 patients with unexplained erythrocytosis, a 13-gene Next-Generation Sequencing erythrocytosis panel developed at our center was conducted. (3) Results: In 6/34 (18%) patients, eight different heterozygous gene variants were found. These patients were, therefore, diagnosed with congenital erythrocytosis. Two patients had two different gene variants each. All variants were characterized as variants of unknown significance as they had not previously been described in the literature. The rest of the patients (28/34, 82%) had no detected gene variants. (4) Conclusions: Our experience shows that the NGS panel can be helpful in determining the reasons for persistent, unexplained erythrocytosis. In our cohort of patients with erythrocytosis, we identified some, thus far unknown, gene variants which may explain the clinical picture. However, further investigations are needed to determine the relationship between the molecular findings and the phenotype.

Indexed as

MutationAdolescentAdultAgedAged, 80 and overCohort StudiesFemaleHeterozygoteHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPolycythemiaSwitzerlandYoung AdulterythrocytosisNGSpolycythemia

Identifiers

PMID34946900
PMCPMC8701725
OpenAlexW4200254895

What OpenQuestion holds

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LicenceCC BY
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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.