Evidence map›Paper›PMID 36423945›Full record

ArticleBMJ case reports2022

Neonatal diabetes with a rare LRBA mutation.

Arti Yadav, Rakesh Kumar, Amit Rawat, Radha Venkatesan

Open access · greenAbstract readCase Reports
In one paragraph

Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.3field-weighted citation impact, top 19% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024
    Review
  3. 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

4 authors at 2 institutions in 1 country.

Arti YadavEndocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Rakesh KumarEndocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India drrakesh.pgi@gmail.com.ORCID http://orcid.org/0000-0002-0039-2142
Amit RawatPediatric Allergy and Immunology Unit, PGIMER, Chandigarh, India.
Radha VenkatesanMolecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India.
Post Graduate Institute of Medical Education and Research · INMadras Diabetes Research Foundation · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonatal diabetes mellitus (NDM) is characterised by onset of persistent hyperglycaemia within the first 6 months of life. NDM is frequently caused by a mutation in a single gene affecting pancreatic beta cell function. We report an infant, born to a non-consanguineous couple, who presented with osmotic symptoms and diabetic ketoacidosis. The genetic analysis showed a mutation in LRBA (lipopolysaccharide-responsive and beige-like anchor protein) gene. We highlight the importance of considering genetic analysis in every infant with NDM, to understand the nature of genetic mutation, associated comorbidities, response to glibenclamide and future prognosis.

Indexed as

Diabetes MellitusDiabetic KetoacidosisInfant, Newborn, DiseasesAdaptor Proteins, Signal TransducingGlyburideHumansInfantInfant, NewbornMutationPancreasAdaptor Proteins, Signal TransducingGlyburideLRBA protein, humanDiabetesEndocrinologyGenetics

Identifiers

PMID36423945
PMCPMC9693640
OpenAlexW4309887004

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.