Evidence map›Paper›PMID 31791989›Full record

ArticleBMJ case reports2019

Neonatal cholestasis, hyperferritinemia, hypoglycemia and deafness: a diagnostic challenge.

Elke van Westering-Kroon, Malou Heijligers, Matthias Christian Hütten

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 75% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

3 authors at 1 institution in 1 country.

Elke van Westering-KroonPediatrics, Maastricht University Medical Centre+, Maastricht, Limburg, The Netherlands.
Malou HeijligersClinical Genetics, Maastricht University Medical Centre+, Maastricht, Limburg, The Netherlands.ORCID http://orcid.org/0000-0002-0174-8278
Matthias Christian HüttenPediatrics, Maastricht University Medical Centre+, Maastricht, Limburg, The Netherlands matthias.hutten@mumc.nl.
Maastricht University Medical Centre · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Neonatal conjugated hyperbilirubinemia is a diagnostic challenge. A full term, small for gestational age boy presented with cholestasis, hypoglycemia, hyperferritinemia and severe bilateral deafness. Diagnostic work-up revealed two hereditary diseases: alpha-1-antitrypsin deficiency (PI*ZZ genotype) and autosomal recessive deafness type 3 (compound heterozygous MYO15A gene mutation). In addition, we found late hypoglycemia on full enteral feeding which complicated this case. Hyperferritinemia is an uncommon finding in newborn cholestasis without liver failure.

Indexed as

alpha 1-Antitrypsin DeficiencyCholestasisDiagnosis, DifferentialFerritinsHearing Loss, SensorineuralHumansHypoglycemiaInfant, NewbornInfant, Small for Gestational AgeIron Metabolism DisordersMyosinsFerritinsMYO15A protein, humanMyosinsliver diseasemetabolic disordersneonatal intensive care

Identifiers

PMID31791989
PMCPMC6887405
OpenAlexW2992825476

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.