Evidence map›Paper›PMID 33845048›Full record

ArticleDiabetes research and clinical practice2021

Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.

May Sanyoura, Erika L Lundgrin, Hari Prasanna Subramanian, Min Yu, Priscilla Sodadasi, Siri Atma W Greeley, Sarah MacLeish, Daniela Del Gaudio

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Diabetes research and clinical practice, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024
    Review
  3. The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.The Journal of clinical endocrinology and metabolism · 2024
    Article
  4. Article
  5. 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

8 authors at 2 institutions in 1 country.

May SanyouraDepartment of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., G701, Chicago, IL 60637, USA.
Erika L LundgrinDivision of Pediatric Endocrinology and Metabolism, University Hospitals Rainbow Babies & Children's Hospital, 11100 Euclid Ave., Cleveland, OH 44106, USA.
Hari Prasanna SubramanianDepartment of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., G701, Chicago, IL 60637, USA.
Min YuDepartment of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., G701, Chicago, IL 60637, USA.
Priscilla SodadasiDepartment of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., G701, Chicago, IL 60637, USA.
Siri Atma W GreeleySection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.
Sarah MacLeishDivision of Pediatric Endocrinology and Metabolism, University Hospitals Rainbow Babies & Children's Hospital, 11100 Euclid Ave., Cleveland, OH 44106, USA.
Daniela Del GaudioDepartment of Human Genetics, The University of Chicago, 5841 S. Maryland Ave., G701, Chicago, IL 60637, USA. Electronic address: ddelgaudio@bsd.uchicago.edu.
University of Chicago · USRainbow Babies & Children's Hospital · US

Funding

Monogenic Diabetes: Next Generation Diagnosis, Treatment and ComplicationsR01DK104942 · NIDDK · UNIVERSITY OF CHICAGO · PI GREELEY, SIRI ATMA W., PHILIPSON, LOUIS H. · 2016 to 2024
$4.7M
NIDDK NIH HHS R01 DK104942
6 · The paper itself

Abstract

We report a 6-month-old boy with antibody-positive insulin-dependent diabetes mellitus. Sequencing identified compound heterozygous deletions of exon 5 and exons 36-37 in LRBA. At three years, he has yet to exhibit any other immune symptoms. Genetic testing of LRBA is warranted in patients with neonatal diabetes, even without immune dysregulation.

Indexed as

Adaptor Proteins, Signal TransducingDNA Copy Number VariationsGenetic TestingHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornMaleMutationAdaptor Proteins, Signal TransducingLRBA protein, humanAutoimmunityCopy number variantsMonogenicNext generation sequencingType 1 diabetes

Identifiers

PMID33845048
PMCPMC11056189
OpenAlexW3155233390

What OpenQuestion holds

Textmetadata
LicenceTDM
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.