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1.
Clin Nutr ESPEN ; 44: 424-428, 2021 08.
Artículo en Inglés | MEDLINE | ID: mdl-34330500

RESUMEN

AIM: The aim of this study was to evaluate the nutritional status, the nutritional effect on the risk of infection and the severity of the disease, and the contribution of nutrition to the course of the infection in pediatric patients diagnosed with coronavirus disease who required additional nutritional support after hospitalization. METHODS: The body weight, height, body mass index, upper arm circumference, and triceps skinfold thickness of 49 patients aged 1 month to 18 years and diagnosed with Covid-19 and then hospitalized at the Ankara City Hospital, Pediatric Health and Diseases Hospital, Pediatric Infection ward between 15 May and 15 June 2020 were measured. Total protein, albumin, prealbumin, selenium, zinc, ferritin, folate, and selenium, C, D, E, and B12 levels were studied from blood drawn simultaneously from the patients. RESULTS: A total of 49 patients aged 8-18 years were evaluated. The median age was 13 years (age range 8-18). The females made up 53% and the males 47% of the group. No patient needed intensive care admission. Only 3 patients received antibiotic treatment and the others were followed up without treatment. The weight was normal in 75% and the height was normal in 90%. Mid-arm circumference and triceps thickness were normal in 72% of the patients. Vitamin D deficiency was present in 82%, vitamin B12 deficiency in 18%, vitamin C deficiency in 17%, ferritin deficiency in 16%, folate deficiency in 15%, vitamin A deficiency in 13%, and vitamin E deficiency in 7%. CONCLUSION: No patient required intensive care admission. Only 3 patients received antibiotic treatment and the others were followed up without treatment. Malnourishment was present in 3% of the patients while 9% were obese. Vitamin D deficiency was the most common vitamin deficiency while vitamin B12, vitamin C, Ferritin, vitamin A, vitamin E, and Folate deficiency were less common. Selenium and zinc levels were normal in all patients. There was no correlation between anthropometric values and susceptibility to childhood COVID-19 infection or the clinical course. It is possible that vitamin D deficiency increases susceptibility to the infection.


Asunto(s)
COVID-19/sangre , COVID-19/epidemiología , Desnutrición/sangre , Desnutrición/epidemiología , Estado Nutricional , Adolescente , Niño , Preescolar , Comorbilidad , Femenino , Humanos , Lactante , Masculino , SARS-CoV-2 , Índice de Severidad de la Enfermedad , Turquía/epidemiología
2.
J Pediatr Endocrinol Metab ; 34(9): 1185-1189, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-34161696

RESUMEN

OBJECTIVES: Congenital disorders of glycosylation (CDGs) are rare inherited metabolic disorders associated with facial dysmorphism and in the majority of the patients, there is an important neurological impairment. Epilepsy was a main concern in rare forms of the disease. There are two groups of the disease: CDG-I results from the defects in glycan addition to the N-terminal and CDG-II occurs due to defects in the processing of protein bound glycans. SLC35A2-CDG is a rare form of CDG caused by mutations in the X-linked gene that encodes a UDP-Galactose transporter. The manifestations of the disease include seizures, failure to thrive, delayed myelination, and cerebral atrophy. CASE PRESENTATION: We describe herein a severe female child with intractable seizures, microcephaly, growth retardation, hypotonia, global developmental delay, facial dysmorphism, skeletal findings, cerebral/cerebellar atrophy, and thin corpus callosum, and a mildly affected male carrying a novel variant with seizures and mild global developmental delay who were found by whole exome sequencing (WES) for SLC35A2 mutations previously not reported. CONCLUSIONS: Our findings expand the number of reported cases and add novel variants to the repertoire of SLC35A2-CDG.


Asunto(s)
Anomalías Múltiples/patología , Trastornos Congénitos de Glicosilación/patología , Epilepsia/patología , Proteínas de Transporte de Monosacáridos/genética , Mutación , Convulsiones/patología , Anomalías Múltiples/genética , Preescolar , Trastornos Congénitos de Glicosilación/complicaciones , Trastornos Congénitos de Glicosilación/genética , Epilepsia/complicaciones , Epilepsia/genética , Femenino , Humanos , Masculino , Pronóstico , Convulsiones/complicaciones , Convulsiones/genética
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