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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Overview of attention for article published in Arquivos Brasileiros de Cardiologia, January 2014
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  • Among the highest-scoring outputs from this source (#41 of 486)
  • Good Attention Score compared to outputs of the same age (69th percentile)

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4 tweeters
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3 Facebook pages

Citations

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13 Dimensions

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43 Mendeley
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Title
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
Published in
Arquivos Brasileiros de Cardiologia, January 2014
DOI 10.5935/abc.20140145
Pubmed ID
Authors

Marcília S. Grassi, Cristina M. A. Jacob, Leslie D. Kulikowski, Antonio C. Pastorino, Roberta L. Dutra, Nana Miura, Marcelo B. Jatene, Stephanie P. Pegler, Chong A. Kim, Magda Carneiro-Sampaio

Abstract

Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

Twitter Demographics

The data shown below were collected from the profiles of 4 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 43 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 43 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 9 21%
Student > Bachelor 6 14%
Student > Postgraduate 5 12%
Student > Ph. D. Student 5 12%
Student > Doctoral Student 4 9%
Other 6 14%
Unknown 8 19%
Readers by discipline Count As %
Medicine and Dentistry 13 30%
Biochemistry, Genetics and Molecular Biology 9 21%
Agricultural and Biological Sciences 3 7%
Unspecified 3 7%
Nursing and Health Professions 1 2%
Other 5 12%
Unknown 9 21%

Attention Score in Context

This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 06 May 2018.
All research outputs
#3,733,105
of 12,896,510 outputs
Outputs from Arquivos Brasileiros de Cardiologia
#41
of 486 outputs
Outputs of similar age
#70,175
of 234,510 outputs
Outputs of similar age from Arquivos Brasileiros de Cardiologia
#1
of 1 outputs
Altmetric has tracked 12,896,510 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 486 research outputs from this source. They receive a mean Attention Score of 1.9. This one has done particularly well, scoring higher than 91% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 234,510 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 69% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them