Evidence map›Paper›PMID 30277015›Full record

ArticleAmerican journal of medical genetics. Part A2018

Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.

Arpana Rayannavar, Lorraine E Levitt Katz, Terrence Blaine Crowley, Megan Lessig, Katheryn Grand, Elizabeth Goldmuntz, Elaine H Zackai, Donna M McDonald-McGinn

Abstract read
In one paragraph

Article in American journal of medical genetics. Part A, 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
0.7field-weighted citation impact, top 29% 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, 16 citations in OpenAlex.

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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

8 authors at 1 institution in 1 country.

Arpana RayannavarDivisions of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0002-2520-9826
Lorraine E Levitt KatzDivisions of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Terrence Blaine CrowleyHuman Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Megan LessigDivisions of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Katheryn GrandHuman Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.ORCID 0000-0002-9411-2913
Elizabeth GoldmuntzDivision of Cardiology, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Elaine H ZackaiHuman Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Donna M McDonald-McGinnHuman Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Children's Hospital of Philadelphia · US

Funding

Project 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI GOLDMUNTZ, ELIZABETH · 2011 to 2020
$14.0M
Translational Research Training in Pediatric Diabetes & EndocrinologyT32DK063688 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI LORRAINE E LEVITT KATZ, ANDREA Bridget KELLY · 2002 to 2026
$5.4M
CYTOGENETIC AND MOLECULAR STUDIES OF HUMAN CHROMOSOME 22R01CA039926 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI EMANUEL, BEVERLY S · 1985 to 2013
$4.0M
Genetic Modifiers for 22q 11.2 Deletion SyndromeR01HL084410 · NHLBI · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI MORROW, BERNICE E · 2007 to 2010
$3.3M
NCI NIH HHS R01 CA039926NHLBI NIH HHS R01 HL084410NICHD NIH HHS P01 HD070454NIDDK NIH HHS T32 DK063688
6 · The paper itself

Abstract

Hypocalcemia is one of the cardinal features of the chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome. Hypocalcemia and other features of 22q11.2DS including congenital heart disease (CHD) are primarily ascribed to problems with morphogenesis and function of the pharyngeal arch system derivatives including the parathyroid glands, the aortic arch, and the cardiac outflow tract. In light of the aforementioned embryology, we hypothesized that hypocalcemia would be identified more frequently in those patients with 22q11.2DS and CHD. We conducted a retrospective IRB approved chart review on 1,300 subjects with 22q11.2DS evaluated at the Children's Hospital of Philadelphia. χ

Indexed as

AdolescentAdultAge of OnsetChildChild, PreschoolDiGeorge SyndromeFemaleHeart Defects, CongenitalHumansHypocalcemiaInfantInfant, NewbornMaleRetrospective StudiesYoung Adultcongenital heart diseasehypocalcemia22q11.2 microdeletion

Identifiers

PMID30277015
PMCPMC6467273
OpenAlexW2895045749

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.