Evidence map›Paper›PMID 39420902›Full record

ArticleArchives of endocrinology and metabolism2024

Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).

Renata Peixoto-Barbosa, Luis Eduardo Calliari, Felipe Crispim, Regina S Moisés, Sergio A Dib, André F Reis, Fernando M A Giuffrida

Abstract read
In one paragraph

Article in Archives of endocrinology and metabolism, 2024. 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
–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

1 citing paper in PubMed.

  1. Review
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.

Renata Peixoto-BarbosaUniversidade Federal de São Paulo São PauloSP Brasil Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0002-6133-7497
Luis Eduardo CalliariDepartamento de Pediatria Faculdade de Ciências Médicas Santa Casa de Misericórdia de São Paulo São PauloSP Brasil Departamento de Pediatria, Faculdade de Ciências Médicas da Santa Casa de Misericórdia de São Paulo, São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0003-2085-5316
Felipe CrispimUniversidade Federal de São Paulo São PauloSP Brasil Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0003-3381-9680
Regina S MoisésUniversidade Federal de São Paulo São PauloSP Brasil Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0002-9048-068X
Sergio A DibUniversidade Federal de São Paulo São PauloSP Brasil Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0001-8653-8773
André F ReisUniversidade Federal de São Paulo São PauloSP Brasil Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0002-3274-4587
Fernando M A GiuffridaUniversidade Federal de São Paulo São PauloSP Brasil Disciplina de Endocrinologia, Universidade Federal de São Paulo (Unifesp), São Paulo, SP, Brasil.ORCID https://orcid.org/0000-0002-5566-8070

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To evaluate the accuracy of routinely available parameters in screening for GCK maturity-onset diabetes of the young (MODY), leveraging data from two large cohorts - one of patients with GCK-MODY and the other of patients with type 1 diabetes (T1D). Materials and methods: The study included 2,687 patients with T1D, 202 patients with clinical features of MODY but without associated genetic variants (NoVar), and 100 patients with GCK-MODY (GCK). Area under the receiver-operating characteristic curve (ROC-AUC) analyses were used to assess the performance of each parameter - both alone and incorporated into regression models - in discriminating between groups. Results: The best parameter discriminating between GCK-MODY and T1D was a multivariable model comprising glycated hemoglobin (HbA1c), fasting plasma glucose, age at diagnosis, hypertension, microvascular complications, previous diabetic ketoacidosis, and family history of diabetes. This model had a ROC-AUC value of 0.980 (95% confidence interval [CI] 0.974-0.985) and positive (PPV) and negative (NPV) predictive values of 43.74% and 100%, respectively. The best model discriminating between GCK and NoVar included HbA1c, age at diagnosis, hypertension, and triglycerides and had a ROC-AUC value of 0.850 (95% CI 0.783-0.916), PPV of 88.36%, and NPV of 97.7%; however, this model was not significantly different from the others. A novel GCK variant was also described in one individual with MODY (7-44192948-T-C, p.Ser54Gly), which showed evidence of pathogenicity on in silico prediction tools. Conclusions: This study identified a highly accurate (98%) composite model for differentiating GCK-MODY and T1D. This model may help clinicians select patients for genetic evaluation of monogenic diabetes, enabling them to implement correct treatment without overusing limited resources.

Indexed as

Diabetes Mellitus, Type 1Diabetes Mellitus, Type 2Glycated HemoglobinAdolescentAdultBlood GlucoseBrazilChildCohort StudiesFemaleGlucokinaseHumansMaleMass ScreeningMiddle AgedROC CurveBlood GlucoseGlucokinaseGlycated Hemoglobinhemoglobin A1c protein, humandiabetes mellitusgenetic techniquesglucokinaseMODYtype 1 diabetes

Identifiers

PMID39420902
PMCPMC11326741

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.