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1.
Glob Heart ; 17(1): 49, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36051327

RESUMO

Objectives: Describe the use and findings of cardiopulmonary imaging-chest X-ray (cX-ray), echocardiography (cEcho), chest CT (cCT), lung ultrasound (LUS), and/or cardiac magnetic resonance imaging (cMRI)-in COVID-19 hospitalizations in Latin America (LATAM). Background: There is a lack of information on the images used and their findings during the SARS-CoV-2 pandemic in LATAM. Methods: Multicenter, prospective, observational study of COVID-19 inpatients, conducted from March to December 2020, from 12 high-complexity centers, in nine LATAM countries. Adults (>18 years) with at least one imaging modality performed, followed from admission until discharge and/or in-hospital death, were included. Results: We studied 1,435 hospitalized patients (64% males) with a median age of 58 years classified into three regions: Mexico (Mx), 262; Central America and Caribbean (CAC), 428; and South America (SAm), 745. More frequent comorbidities were overweight/obesity, hypertension, and diabetes. During hospitalization, 58% were admitted to the ICU. The in-hospital mortality was 28%, and it was highest in Mx (37%).The most frequent images performed were cCT (61%), mostly in Mx and SAm, and cX-ray (46%), significant in CAC. The cEcho was carried out in 18%, similarly among regions, and LUS was carried out in 7%, with a higher frequently in Mx. Abnormal findings on the cX-ray were peripheral or basal infiltrates, and in cCT abnormal findings were the ground glass infiltrates, more commonly in Mx. In LUS, interstitial syndrome was the most abnormal finding, predominantly in Mx and CAC.Renal failure was the most prevalent complication (20%), predominant in Mx and SAm. Heart failure developed in 13%, predominant in Mx and CAC. Lung thromboembolism was higher in Mx while myocardial infarction was in CAC.Logistic regression showed associations of abnormal imaging findings and their severity, with comorbidities, complications, and evolution. Conclusions: The use and findings of cardiopulmonary imaging in LATAM varied between regions and had a great impact on diagnosis and prognosis.


Assuntos
COVID-19 , Adulto , COVID-19/diagnóstico por imagem , COVID-19/epidemiologia , Feminino , Mortalidade Hospitalar , Humanos , América Latina/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sistema de Registros , SARS-CoV-2 , Tomografia Computadorizada por Raios X/métodos
2.
J Pediatr Endocrinol Metab ; 21(7): 705-9, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18780607

RESUMO

Mutations of the PRKAR1A gene are an important cause of Carney complex (CC). The PRKAR1A gene encodes the type 1A regulatory subunit of cAMP-dependent protein kinase A. We have identified one mutation of PRKAR1A (553delG) in three members of the same family affected by CC. This mutation was not identified in six unaffected family members, 12 patients with sporadic cardiac myxoma and 100 non-related healthy individuals. The novel mutation (553delG) is predicted to produce a frameshift leading to a premature stop codon. RNA analysis in the index patient showed normal size transcripts in RT-PCR amplicons of several exons, but an overall tendency to lower amounts of transcripts in relation to GAPDH controls. In Western blot analyses only full-length protein was present without any evidence of truncated product. These data suggest that the mutant allele might be a null allele due to degradation of the mutant mRNA via nonsense-mediated decay.


Assuntos
Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Neoplasia Endócrina Múltipla/genética , Adulto , Western Blotting , Éxons/genética , Feminino , Deleção de Genes , Gliceraldeído-3-Fosfato Desidrogenases/metabolismo , Humanos , Mixoma/complicações , Mixoma/genética , Linhagem , Polimorfismo de Nucleotídeo Único/genética , RNA/genética
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