Evidence map›Paper›PMID 23897312›Full record

ArticleJournal of perinatology : official journal of the California Perinatal Association2013

Newborn screening for severe combined immunodeficiency: an opportunity for intervention.

D Buchbinder, G Puthenveetil, A Soni, L Hsieh, D Nugent, J A Church

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of perinatology : official journal of the California Perinatal Association, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.1field-weighted citation impact, top 42% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Review
  3. Gastric cardia adenocarcinoma pathway analysis.Gastroenterology and hepatology from bed to bench · 2013
    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 3 institutions in 1 country.

D BuchbinderDivision of Hematology CHOC Children's Hospital and UC Irvine Medical Center, Orange, CA, USA. dbuchbinder@choc.org
G Puthenveetil
A Soni
L Hsieh
D Nugent
J A Church
Children's Hospital of Orange County · USUniversity of California, Irvine · USUniversity of Southern California · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Severe combined immunodeficiency (SCID) is a potentially fatal disorder characterized by defective T- and B-lymphocyte function. We describe a 34-week female twin who had developed feeding intolerance, perioral cyanosis, abdominal distension and neutropenia at 1 month of age. Despite several evaluations including an 'inconclusive' newborn screening result for SCID, the presence of profound lymphopenia was unappreciated. Eventually a diagnosis of SCID in association with adenosine deaminase deficiency was made. This case serves to emphasize the importance of newborn screening for SCID in the context of careful evaluation of clinical and laboratory findings that may be overlooked and result in a delay in the diagnosis of a potentially life-threatening condition.

Indexed as

Neonatal ScreeningAdenosine DeaminaseDiseases in TwinsFemaleHumansInfant, NewbornSevere Combined ImmunodeficiencyAdenosine Deaminase

Identifiers

PMID23897312
OpenAlexW2056277700

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.