Evidence map›Paper›PMID 40066167›Full record

ArticleFrontiers in medicine2025

Somatic mutations in Brazilian patients with paroxysmal nocturnal hemoglobinuria: a comprehensive analysis.

Patricia Eiko Yamakawa, Caio Perez Gomes, Agatha Ribeiro Mendes, Caio Cesar Justino de Oliveira, Florencio Porto Freitas, Fabiana Bettoni, Ernande Xavier Dos Santos, Vinicius Campos de Molla, Matheus Vescovi Gonçalves, Jessica Branquinho and 3 more

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Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Patricia Eiko YamakawaDepartment of Hematology, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil.
Caio Perez GomesDepartment of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Agatha Ribeiro MendesDepartment of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Caio Cesar Justino de OliveiraDepartment of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Florencio Porto FreitasRudolf Virchow Zentrum (RVZ), Center for Integrative and Translational Bioimaging, University of Würzburg, Würzburg, Germany.
Fabiana BettoniMolecular Oncology Center, Hospital Sirio Libanes, São Paulo, Brazil.
Ernande Xavier Dos SantosMolecular Oncology Center, Hospital Sirio Libanes, São Paulo, Brazil.
Vinicius Campos de MollaDepartment of Hematology, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil.
Matheus Vescovi GonçalvesDepartment of Hematology, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil.
Jessica BranquinhoDepartment of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Beatriz Ribeiro NogueiraDepartment of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Joao Bosco PesqueroDepartment of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Celso Arrais-RodriguesDepartment of Hematology, Universidade Federal de São Paulo/Escola Paulista de Medicina, São Paulo, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare clonal hematopoietic stem cell disease characterized by acquired abnormalities in the phosphatidylinositol glycan class A ( Methods: This study analyzed Results: A diverse spectrum of acquired Conclusion: In conclusion, the somatic variants in Brazilian PNH patients displayed variability in both site distribution and type. Contrary to mutational hotspots observed in previous studies, none were identified in this cohort. No specific correlation between the clinical characteristics of hemolytic PNH patients and their variants was found, likely due to the extensive variety of mutations.

Indexed as

hemolytic anemiaparoxysmal nocturnal hemoglobinuriapathogenicityPIG-A genePIG-A mutation

Identifiers

PMID40066167
PMCPMC11891177

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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 Socratic graph.