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1.
Pediatr Infect Dis J ; 42(6): 515-519, 2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-36854119

RESUMEN

BACKGROUND: The literature describing clinical presentation, disease course and outcomes of SARS-CoV-2 in infants remains scarce. METHODS: We conducted a retrospective study across 2 major pediatric referral centers evaluating the demographics, clinical and laboratory characteristics, management and outcomes of COVID-19 among newborns and infants in the United Arab Emirates (UAE). Clinical and biochemical markers were evaluated for their accuracy in predicting intensive care unit (ICU) transfer and death. RESULTS: A total of 576 COVID-19-positive infants were evaluated with a mean age of 164 days. The mean duration of symptoms was 1.48 days. Fever was present in 36.5% of the cohort, while 44.3% had nasal congestion. Eight infants (of 575; 1.39%) required transfer to the ICU for impending respiratory failure and 2 required invasive ventilation. Symptomatic (fever, nasal congestion) infants were not more likely to be transferred to the ICU (Chi-squared test, P = 0.77). ICU transfer was associated with a higher chance of receiving antibiotics (70.6% vs 35.4%; Chi-squared test, P = 0.003). On multivariate analysis, none of the clinical parameters (age, symptoms, laboratory tests) predicted transfer to the ICU. No deaths were reported during the observation period. CONCLUSIONS: Infants with SARS-CoV-2 infection have a benign clinical course with favorable outcomes. Less than 2% require ICU transfer. Clinical vigilance is required as none of the admission parameters predicted ICU transfer.


Asunto(s)
COVID-19 , Recién Nacido , Niño , Humanos , Lactante , COVID-19/terapia , SARS-CoV-2 , Estudios Retrospectivos , Unidades de Cuidados Intensivos , Hospitalización
2.
Eur J Med Genet ; 55(12): 671-6, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22960500

RESUMEN

Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms of the disease. Here, we investigate the clinical and molecular features of Arab patients with IVA. Patients from five unrelated families were evaluated clinically and for defects in the IVD gene. Four novel mutations (p.F382fs, p.R392H, p.R395Q and p.E408K) have been identified with p.R395Q occurring in two families. In addition, molecular modeling of the identified missense mutations predicted their damaging effects on the protein and computational analysis of the p.F382fs mutation predicted the disruption of a 3' splicing site resulting in inactive or unstable gene product. Furthermore, we found an unusual case of a 17 years old female homozygous for the p.R392H mutation with no clinical symptoms. Our results illustrate a heterogeneous mutation spectrum and clinical presentation in the relatively small UAE population.


Asunto(s)
Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Errores Innatos del Metabolismo de los Aminoácidos/genética , Isovaleril-CoA Deshidrogenasa/genética , Mutación , Fenotipo , Adolescente , Niño , Preescolar , Consanguinidad , Exones , Femenino , Humanos , Enlace de Hidrógeno , Isovaleril-CoA Deshidrogenasa/química , Isovaleril-CoA Deshidrogenasa/deficiencia , Masculino , Modelos Moleculares , Linaje , Conformación Proteica , Sitios de Empalme de ARN , Emiratos Árabes Unidos
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