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1.
Lupus ; 30(5): 836-839, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33509065

RESUMO

We report a case of COVID-19 in a pediatric patient with systemic lupus erythematosus (SLE), who presented with respiratory distress marked by increased work of breathing and low oxygen saturation. Lab tests confirmed COVID-19, and showed lymphocytopenia and elevated markers of inflammation and coagulopathy. Chest X-ray showed bilateral mid-lung opacities, and the patient required intubation early in his disease course. Imaging and clinical findings were consistent with acute respiratory distress syndrome (ARDS) with inflammation. The patient was treated with different combinations of antivirals (hydroxychloroquine and remdesivir), cytokine inhibitors (anakinra and tocilizumab), glucocorticoids (hydrocortisone and methylprednisolone), and an anticoagulant (enoxaparin). Inflammatory markers decreased before clinical improvement in lung aeration. This case highlights the potential for pediatric patients with SLE to present with COVID-19 similar to the clinical presentation described in adults.


Assuntos
COVID-19/complicações , Lúpus Eritematoso Sistêmico/complicações , Síndrome do Desconforto Respiratório/etiologia , SARS-CoV-2 , Antivirais/uso terapêutico , COVID-19/imunologia , Pré-Escolar , Síndrome da Liberação de Citocina/tratamento farmacológico , Síndrome da Liberação de Citocina/etiologia , Síndrome da Liberação de Citocina/imunologia , Citocinas/antagonistas & inibidores , Progressão da Doença , Enoxaparina/uso terapêutico , Glucocorticoides/uso terapêutico , Humanos , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Síndrome do Desconforto Respiratório/tratamento farmacológico , Síndrome do Desconforto Respiratório/imunologia , Tratamento Farmacológico da COVID-19
2.
Mol Syndromol ; 10(5): 276-280, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32021599

RESUMO

We report a preterm male neonate presenting with a lumbosacral meningomyelocele, type II Arnold Chiari malformation, hypoplasia of the aortic arch, bicuspid aortic valve, ventricular septal defect, secundum atrial septal defect, multicystic dysplastic kidney, and hydronephrosis. Analysis with whole genome SNP microarray revealed an interstitial deletion of about 237 kb in chromosome 6q26. Long contiguous stretches of homozygosity (>3 Mb) were seen in 18 chromosomes with a total genomic size of 219 Mb. The phenotype seen in our patient has not been reported in association with the genes in the homozygous regions. However, our patient shares many phenotypic features with other reported cases that have shown a deletion in the same region of chromosome 6.

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