Evidence map›Paper›PMID 34992182›Full record

ArticleIndian pediatrics2022

Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.

Rajni Sharma, Kakali Roy, Amit Kumar Satapathy, Anil Kumar, Pamali Mahasweta Nanda, Nishikant Damle, Jayne A L Houghton, Sarah E Flanagan, Venkatesan Radha, Viswanathan Mohan and 1 more

Open access · greenAbstract read
In one paragraph

Article in Indian pediatrics, 2022. 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 33% 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, 4 citations in OpenAlex.

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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

11 authors at 5 institutions in 2 countries.

Rajni SharmaDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Kakali RoyDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Amit Kumar SatapathyDepartment of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Orissa, India.
Anil KumarDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Pamali Mahasweta NandaDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Nishikant DamleDepartment of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India.
Jayne A L HoughtonGenomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Sarah E FlanaganInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Venkatesan RadhaDepartment of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India.
Viswanathan MohanDepartment of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India.
Vandana JainDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Correspondence to: Prof Vandana Jain, Division of Pediatric Endocrinology, Room no.3058, Teaching Block, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029. drvandanajain@gmail.com.
All India Institute of Medical Sciences · INMadras Diabetes Research Foundation · INAll India Institute of Medical Sciences Bhubaneswar · INRoyal Devon & Exeter NHS Foundation Trust · GBUniversity of Exeter · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThere is limited data from India regarding medical management of congenital hyperinsulinism (CHI).

objectiveTo study the molecular diagnosis, medical management and outcomes of children with CHI. STUDY

designAmbispective.

setting

participantsChildren with CHI admitted in from December, 2011 till March, 2020 at a tertiary care referral hospital. OUTCOMES: Clinical and genetic profile, treatment, and response.

results42 children with a median age of 3 days (range 1 day to 6 years) were enrolled, of which 23 (54.7%) were diazoxide-responsive. Mutations were identified in 28 out of 41 (68.2%) patients. The commonest gene affected was ABCC8 in 22 patients. The pathogenic variant c.331G>A in ABCC8 gene was identified in 6 unrelated cases from one community. Good response to daily octreotide was seen in 13 of the 19 (68.4%) diazoxide-unresponsive patients. Monthly long-acting octreotide was initiated and daily octreotide could be stopped or tapered in 9 patients. Sirolimus was tried with variable response in 6 patients but was discontinued in 5 due to adverse effects. Four patients had focal CHI, of which one underwent partial pancreatic resection. The disease severity reduced with age and neurodevelopment was good in the patients with identifiable genetic defects who were optimally managed.

conclusionsMedical management of CHI is effective, if compliance can be ensured, with good quality of life and neurological outcomes.

Indexed as

Congenital HyperinsulinismQuality of LifeChildChild, PreschoolDiazoxideHumansInfantInfant, NewbornMutationOctreotideSulfonylurea ReceptorsDiazoxideOctreotideSulfonylurea Receptors

Identifiers

PMID34992182
PMCPMC8913199
OpenAlexW4206847925

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.