Evidence map›Paper›PMID 41169283›Full record

ArticleFrontiers in clinical diabetes and healthcare2025

Case Report: When genetic diagnosis comes late: lessons from a DEND syndrome patient successfully transitioned to sulfonylurea.

Gabriella de Medeiros Abreu, Ritiele Bastos de Souza, Marília Chaves Bernardo, Jardeson Lima da Cruz Junior, Amanda Ferreira, Deborah Snaider, Ana Carolina Proença da Fonseca, Kaio Cezar Rodrigues Salum, Verônica Marques Zembrzuski, Marco Antonio Lima and 6 more

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PubMed Full text at PMC Publisher
In one paragraph

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

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

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

16 authors.

Gabriella de Medeiros AbreuInstituto de Nutrição Josué de Castro, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Ritiele Bastos de SouzaLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Marília Chaves BernardoDepartamento de Diabetes e Nutrologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Jardeson Lima da Cruz JuniorDepartamento de Diabetes e Nutrologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Amanda FerreiraLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Deborah SnaiderLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Ana Carolina Proença da FonsecaLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Kaio Cezar Rodrigues SalumLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Verônica Marques ZembrzuskiLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Marco Antonio LimaLaboratório de Pesquisa Clínica em Neuroinfecções, Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.
Roberta Magalhães TarantinoDepartamento de Diabetes e Nutrologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Melanie RodackiDepartamento de Diabetes e Nutrologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Lenita ZajdenvergDepartamento de Diabetes e Nutrologia, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Jorge Luiz LuescherInstituto de Puericultura e Pediatria Martagão Gesteira, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Eliane Lopes RosadoInstituto de Nutrição Josué de Castro, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Mário Campos JuniorLaboratório de Genética Humana, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonatal diabetes mellitus (NDM) is a rare cause of diabetes characterized by the presence of severe hyperglycemia typically diagnosed within the first six months of life. Among the main causes are activating variants in heterozygosity in the

Indexed as

DEND syndromeKCNJ11Kir6.2late diagnosisneonatal diabetes mellitussulfonylurea

Identifiers

PMID41169283
PMCPMC12568496

What Socratic holds

Textmetadata
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 Socratic graph.