Evidence map›Paper›PMID 28083968›Full record

ArticleJournal of diabetes investigation2017

First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.

Sorin Ioacara, Sarah Flanagan, Elke Fröhlich-Reiterer, Robin Goland, Simona Fica

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of diabetes investigation, 2017. 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
–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

4 citing papers in PubMed.

  1. Development of IFrontiers in pharmacology · 2021
    Article
  2. Severe Developmental Delay, Epilepsy and Neonatal Diabetes (DEND) Syndrome: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2020
    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

5 authors.

Sorin Ioacara"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.
Sarah FlanaganInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Elke Fröhlich-ReitererDepartment of Paediatrics, Medical University of Graz, Graz, Austria.
Robin GolandColumbia University, New York, USA.
Simona Fica"Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most recent evaluation, after 2 years, showed a glycated hemoglobin level of 6.0% (42 mmol/mol). This mutation is so severe that none of the previously reported four cases were able to switch from insulin to sulphonylurea monotherapy. The Q52R mutation seems to have a chance of positive response to glibenclamide administered every 3-6 h instead of the classical 8-12 h, in doses around or above 2.5 mg/kg/day.

Indexed as

Developmental DisabilitiesDiabetes MellitusEpilepsyGlyburideHumansHypoglycemic AgentsInfant, NewbornInsulinKcnj11 ChannelMaleMutationPotassium Channels, Inwardly RectifyingSulfonylurea CompoundsTreatment OutcomeGlyburideHypoglycemic AgentsInsulinKcnj11 ChannelPotassium Channels, Inwardly RectifyingSulfonylurea CompoundsNeonatal diabetesPediatric diabetesSulphonylurea

Identifiers

PMID28083968
PMCPMC5583959

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.