Evidence map›Paper›PMID 37473739›Full record

ArticleNeonatology2023

Neonatal Thrombocytopenia as a Presenting Finding in de novo Pyruvate Kinase Deficiency.

Brian M Dulmovits, K Taylor Wild, John Flibotte, Michele P Lambert, Janet Kwiatkowski, Christopher S Thom

Open access · greenAbstract readCase Reports
In one paragraph

Article in Neonatology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 48% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Inflammation, anemia, and vitamin D levels associate with infant thrombocytosis risk.Research and practice in thrombosis and haemostasis · 2026
    Article
  2. 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

6 authors at 1 institution in 1 country.

Brian M DulmovitsDivision of Neonatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
K Taylor WildDivision of Neonatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
John FlibotteDivision of Neonatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Michele P LambertDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Janet KwiatkowskiDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Christopher S ThomDivision of Neonatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Children's Hospital of Philadelphia · US

Funding

T32 Institutional Pediatric ResearchT32HD043021 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI Joseph W. St. Geme · 2002 to 2026
$6.4M
Determining genetic mechanisms that drive in vitro hematopoiesisK99HL156052 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI THOM, CHRISTOPHER STEPHEN · 2021 to 2024
$670k
NHLBI NIH HHS K99 HL156052NICHD NIH HHS T32 HD043021
6 · The paper itself

Abstract

Thrombocytopenia is a common laboratory abnormality encountered in critically ill neonates. The broad differential for thrombocytopenia, and its association with potentially severe neonatal pathology, often presents a diagnostic dilemma prompting extensive evaluation. Hemolysis due to red cell enzymopathies is a rare cause of neonatal thrombocytopenia that is typically brief and self-limiting. Here, we present a case of thrombocytopenia, refractory to transfusion, associated with anemia and hyperbilirubinemia in a neonate with pyruvate kinase deficiency (PKD) arising from compound heterozygous PKLR mutations. The nature of the thrombocytopenia in this patient created considerable diagnostic uncertainty, which was ultimately resolved by whole-exome sequencing. This case emphasizes that inherited red cell defects, such as PKD, are important to consider in cases of neonatal thrombocytopenia.

Indexed as

AnemiaAnemia, Hemolytic, Congenital NonspherocyticInfant, Newborn, DiseasesPyruvate Metabolism, Inborn ErrorsThrombocytopenia, Neonatal AlloimmuneHumansInfant, NewbornPyruvate KinasePyruvate KinaseHemolysisHyperbilirubinemiaRed cell enzymopathyThrombocytopeniaWhole-exome sequencing

Identifiers

PMID37473739
PMCPMC11027091
OpenAlexW4384924711

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.