Evidence map›Paper›PMID 27776753›Full record

ArticleThe Journal of pediatrics2017

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.

Nicholas M McCrory, Mathew J Edick, Ayesha Ahmad, Susan Lipinski, Jessica A Scott Schwoerer, Shaohui Zhai, Kaitlin Justice, Cynthia A Cameron, Susan A Berry, Loren D M Pena and 1 more

Open access · greenAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 16% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Article
  4. Review
  5. Long-term outcomes in Amish patients diagnosed with propionic acidemia.Molecular genetics and metabolism reports · 2018
    Article
  6. Dietary practices in propionic acidemia: A European survey.Molecular genetics and metabolism reports · 2017
    Article
  7. Propionyl-CoA carboxylase - A review.Molecular genetics and metabolism · 2017
    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

11 authors at 6 institutions in 1 country.

Nicholas M McCroryDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC.
Mathew J EdickMichigan Public Health Institute, Okemos, MI.
Ayesha AhmadDivision of Genetics, Metabolism, and Genomics, Department of Pediatrics, University of Michigan, Ann Arbor, MI.
Susan LipinskiDivision of Genetics, Metabolism, and Genomics, Department of Pediatrics, University of Michigan, Ann Arbor, MI.
Jessica A Scott SchwoererDivision of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin, Madison, WI.
Shaohui ZhaiMichigan Public Health Institute, Okemos, MI.
Kaitlin JusticeMichigan Public Health Institute, Okemos, MI.
Cynthia A CameronMichigan Public Health Institute, Okemos, MI.
Susan A BerryDivision of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN.
Loren D M PenaDepartment of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC. Electronic address: loren.pena@duke.edu.
Inborn Errors of Metabolism Collaborative
Michigan Public Health Institute · USUniversity of Michigan · USDuke Medical Center · USDuke University · USUniversity of Minnesota · USUniversity of Wisconsin–Madison · US

Funding

Collaborative Defining the Natural History of Inborn errors of MetabolismR01HD069039 · NICHD · MICHIGAN PUBLIC HEALTH INSTITUTE · PI BERRY, SUSAN A., CAMERON, CYNTHIA A · 2011 to 2015
$4.3M
NICHD NIH HHS R01 HD069039
6 · The paper itself

Abstract

objectivesTo compare time to evaluation and symptoms at diagnosis of propionic acidemia (PA) by method of ascertainment, and to explore correlations between genotype and biochemical variables. STUDY

designClinical symptoms, genotype, and biochemical findings were analyzed retrospectively in 58 individuals with PA enrolled in the Inborn Errors of Metabolism Information System (IBEM-IS) based on the type of initial ascertainment: abnormal newborn screening (NBS), clinical presentation (symptomatic), or family history.

resultsThe average age at initial evaluation and treatment was significantly younger in patients ascertained via abnormal NBS compared with those referred for clinical symptoms. Furthermore, the majority of individuals ascertained because of abnormal NBS were asymptomatic at diagnosis, compared with a minority of clinical presentations. A notable difference in the frequency of metabolic acidosis at initial presentation was observed between those with abnormal NBS (12.5%; 2 of 16) and those with an abnormal clinical presentation (79%; 19 of 24). The frequency of hyperammonemia was similar in the 2 groups.

conclusionOur data support the continued value of NBS to identify individuals with PA, who are diagnosed and treated earlier than for other modes of ascertainment. There were no statistically significant correlations between genotype and NBS for C3 acylcarnitines. Although expanded use of NBS has allowed for early diagnosis and treatment, long-term outcomes of individuals with PA, especially with respect to mode of ascertainment, remain unclear and would benefit from a longitudinal study.

Indexed as

FemaleGenotypeHumansInfantInfant, NewbornMaleMetabolism, Inborn ErrorsNeonatal ScreeningPropionic AcidemiaRetrospective StudiesTime FactorsC3 acylcarnitinehistoryhyperammonemiahyperglycinemialongitudinal follow upnaturalnewborn screeningnonketoticorganic acidemia

Identifiers

PMID27776753
PMCPMC5183466
OpenAlexW2535254822

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.