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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
|
|---|---|
| Published in |
Arquivos Brasileiros de Cardiologia, October 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. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 25% |
| Ireland | 1 | 25% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 44 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 9 | 20% |
| Student > Bachelor | 8 | 18% |
| Student > Postgraduate | 5 | 11% |
| Student > Ph. D. Student | 5 | 11% |
| Student > Doctoral Student | 4 | 9% |
| Other | 4 | 9% |
| Unknown | 9 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 14 | 32% |
| Biochemistry, Genetics and Molecular Biology | 11 | 25% |
| Agricultural and Biological Sciences | 3 | 7% |
| Nursing and Health Professions | 1 | 2% |
| Linguistics | 1 | 2% |
| Other | 4 | 9% |
| Unknown | 10 | 23% |
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
#8,426,350
of 25,373,627 outputs
Outputs from Arquivos Brasileiros de Cardiologia
#225
of 1,210 outputs
Outputs of similar age
#88,572
of 268,350 outputs
Outputs of similar age from Arquivos Brasileiros de Cardiologia
#7
of 22 outputs
Altmetric has tracked 25,373,627 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 1,210 research outputs from this source. They receive a mean Attention Score of 4.0. This one has done well, scoring higher than 80% 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 268,350 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 66% of its contemporaries.
We're also able to compare this research output to 22 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.