Evidence map›Paper›PMID 29599085›Full record

ArticleBlood cells, molecules & diseases2018

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Jessica A Meznarich, Lauren Draper, Robert D Christensen, Hassan M Yaish, Nick D Luem, Theodore J Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M Ward

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

Article in Blood cells, molecules & diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 34% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Serum erythroferrone levels during the first month of life in premature infants.Journal of perinatology : official journal of the California Perinatal Association · 2022
    Article
  5. Article
  6. 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

10 authors at 3 institutions in 1 country.

Jessica A MeznarichDivision of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA. Electronic address: jessica.meznarich@hsc.utah.edu.
Lauren DraperDivision of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA.
Robert D ChristensenDivision of Neonatology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA.
Hassan M YaishDivision of Hematology-Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA.
Nick D LuemARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Theodore J PysherPrimary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Grace JungUCLA David Geffen School of Medicine, Los Angeles, CA, USA.
Elizabeta NemethUCLA David Geffen School of Medicine, Los Angeles, CA, USA.
Tomas GanzUCLA David Geffen School of Medicine, Los Angeles, CA, USA.
Diane M WardDepartment of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Intermountain Healthcare · USUniversity of California, Los Angeles · USUniversity of Utah · US

Funding

Proteomics CoreU54DK110858 · NIDDK · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Anna E Beaudin, JAMES Eric COX · 2016 to 2026
$8.6M
The role of erythroferrone in iron homeostasis and in iron-loading anemiasR01DK065029 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI GANZ, TOMAS · 2004 to 2017
$4.9M
FACTORS REGULATING THE CELLULAR UPTAKE OF IRONR37DK030534 · NIDDK · UNIVERSITY OF UTAH · PI KAPLAN, JERRY · 2000 to 2009
$3.3M
FACTORS REGULATING THE CELLULAR UPTAKE OF IRONR01DK030534 · NIDDK · UNIVERSITY OF UTAH · PI WARD, DIANE MCVEY · 1986 to 2018
$2.7M
NIDDK NIH HHS R01 DK030534NIDDK NIH HHS R01 DK065029NIDDK NIH HHS R37 DK030534NIDDK NIH HHS U54 DK110858
6 · The paper itself

Abstract

The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseHeterozygoteMutationAdultAnemia, Dyserythropoietic, CongenitalBiomarkersBiopsyBone MarrowFemaleGlycoproteinsHumansInfant, NewbornMaleNuclear ProteinsBiomarkersCDAN1 protein, humanGlycoproteinsNuclear ProteinsCDAN1 mutationsCongenital dyserythropoietic anemiaErythroferroneGDF15Hepcidin

Identifiers

PMID29599085
PMCPMC5947870
OpenAlexW2792495220

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.