Evidence map›Paper›PMID 39895985›Full record

ArticleFrontiers in pediatrics2024

Case Report: The importance of genetic counseling for families with hyperinsulinism.

Victoria R Sanders, Katherine Lord, Winnie M Sigal, Heather McKnight, N Scott Adzick, Lisa J States, Tricia Bhatti, Diva D De Leon

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 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. 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

8 authors.

Victoria R SandersDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Katherine LordDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Winnie M SigalDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Heather McKnightDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
N Scott AdzickCongenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Lisa J StatesCongenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Tricia BhattiCongenital Hyperinsulinism Center, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Diva D De LeonDivision of Endocrinology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following a diagnosis of HI. A newborn had hypoglycemia at birth and was diagnosed with focal HI due to a paternally inherited recessive

Indexed as

ABCC8carrier testinggenetic counselinghyperinsulinismrecurrence risk

Identifiers

PMID39895985
PMCPMC11782026

What OpenQuestion 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 OpenQuestion graph.