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2.
J Pediatr Genet ; 11(1): 15-21, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35186385

RESUMO

To evaluate the role of erythrocyte complement receptor 1 ( ECR1 ) gene in the predisposition to respiratory distress syndrome (RDS), we studied 50 infants with RDS and 50 controls. Real-time polymerase chain reaction allelic discrimination analysis of A3650G (rs2274567) and genotyping of the alleles (HindIII) were performed. Allele L of HindIII restricted single nucleotide polymorphism (SNP) associated with the severity of RDS. Duration of oxygen and ventilation in genotypes AA and AG of A3650G SNP was longer than genotype GG (17.6 ± 19.4 and 8.6 ± 4.5 days, p = 0.01) and (8.9 ± 11.9 and 3.9 ± 3.53 days, p = 0.03), respectively. A3650G and HINDIII digested gene polymorphisms of ECR1 may be of little importance for RDS.

3.
J Asthma ; 57(4): 347-352, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-30729848

RESUMO

Background: Asthma is one of the most common chronic airway disease of childhood. Poor asthma control has been associated with antioxidant deficiencies. Objective: To assess the association of bronchial asthma in Egyptian children with serum nuclear factor erythroid 2-related factor2 (NRF2) and its relation to disease severity. Subjects and methods: The study included 60 asthmatic children with comparable 60 controls (age ranged from 6-16 years). Subjects were classified according to the severity of asthma into mild or moderate asthma in group I, and severe asthma in group II. Antioxidant markers including superoxide-dismutase (SOD), glutathione peroxidase (GPX) and NRF2 were assessed once in blood and serum of both subjects and controls. Results: Mean serum NRF2 and GPX were significantly lower in asthmatic group than controls group (26.36 ± 4.18 pg/mL and 5.76 ± 0.81 mU/mL vs 29.05 ± 3.87 and 6.23 ± 0.97 respectively, p < 0.05). No significant difference was detected regarding SOD (p > 0.05). In severe bronchial asthma, mean serum NRF2 and GPX were significantly lower than in mild and moderate asthma (24.29 ± 1.86 pg/mL and 5.56 ± 0.67 mU/mL vs 27.95 ± 4.77 and 6.03 ± 0.90 respectively, p < 0.05). No significant difference was found in SOD regarding severity of bronchial asthma. Low NRF2 was the only predictor of the severity of bronchial asthma (OR = 0.749 and 95% CI 0.595 - 0.942). Conclusion: The pathogenesis of childhood bronchial asthma may be associated with low serum NRF2 which may be a strong predictor of the disease severity.


Assuntos
Asma/diagnóstico , Fator 2 Relacionado a NF-E2/sangue , Adolescente , Asma/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Egito , Feminino , Glutationa Peroxidase , Humanos , Masculino , Índice de Gravidade de Doença , Superóxido Dismutase/sangue
4.
Pediatr Neonatol ; 60(3): 285-290, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30100519

RESUMO

BACKGROUND: Reliable predictive markers enabling physicians to identify which newborns will develop significant hyperbilirubinemia have become mandatory for prevention of severe hyperbilirunemia. We aimed at determining the critical cord serum bilirubin and albumin levels and bilirubin/albumin ratio early as reliable markers. STUDY DESIGN: This prospective study included 175 full-term neonates. Measurement of cord bilirubin, albumin and bilirubin/albumin ratio was done to predict significant hyperbilirubinemia in healthy term newborns based on serum bilirubin measurements made within 5 days of life. RESULTS: Most cases that developed significant neonatal hyperbilirubinemia (67.9%) had cord albumin level ≤ 2.8 gm/dl. Cord Bilirubin/albumin ratio cut off value > 0.61 had a good predictive value with a sensitivity of 100% and specificity of 88.4%, and cord serum albumin cut off value ≤ 3.0 mg/dl also had a good predictive value with a sensitivity of 85.7% and specificity of 67.3%. ROC curve analysis of cord total bilirubin demonstrated that a cut off value of ≥1.84 mg/dl had a good predictive value with a sensitivity of 100.0% and specificity of 87.1%. CONCLUSION: Cord bilirubin/albumin ratio, serum bilirubin and albumin could be early predictors for neonatal hyperbilirubinemia.


Assuntos
Hiperbilirrubinemia Neonatal/diagnóstico , Bilirrubina/sangue , Biomarcadores , Feminino , Humanos , Recém-Nascido , Masculino , Valor Preditivo dos Testes , Estudos Prospectivos , Albumina Sérica/análise
5.
World J Pediatr ; 15(1): 42-48, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30406356

RESUMO

BACKGROUND: Acute bilirubin encephalopathy (ABE) still represents a significant cause of morbidity and mortality throughout the world, especially in developing countries. We aimed to determine the prevalence of ABE based on the Johnson bilirubin-induced neurologic dysfunction (BIND) score and to describe the discharge outcomes. METHODS: We prospectively studied all newborns ≥ 35 weeks with ABE by evaluating signs of mental sensorium, muscle tone, and cry patterns over 1 year. RESULTS: 12% (81 out of 674) of the newborns admitted for neonatal hyperbilirubinemia had a BIND score > 1. Their admission age was 6 ± 4.1 days; total serum bilirubin (TSB) was 31.2 ± 10 mg/dL (range 17.5-75.2). Of these newborns, 40.7% and 21% had evidence of haemolysis and sepsis, respectively. Overall mortality was 9.9%; 58% of the newborns showed signs of mild-to-moderate BIND at discharge, while 32.1% survived with an apparently normal outcome. Admission BIND score was significantly correlated with admission TSB (r = 0.476, P < 0.001). Similarly, BIND score at discharge was correlated with admission TSB (r = 0.442, P < 0.001) and admission BIND score (r = 0.888, P < 0.001). The regression model showed that admission TSB (P < 0.001) and maternal illiteracy (P = 0.034) were predictors of the BIND score at admission, while admission BIND score was the best indicator of the discharge score (P < 0.001). CONCLUSIONS: ABE is still a major problem in our community. Admission TSB and maternal illiteracy are good predictors of bilirubin encephalopathy at admission and discharge.


Assuntos
Hiperbilirrubinemia Neonatal/epidemiologia , Unidades de Terapia Intensiva Neonatal , Kernicterus/epidemiologia , Bilirrubina/sangue , Egito/epidemiologia , Feminino , Hemólise , Mortalidade Hospitalar , Humanos , Recém-Nascido , Alfabetização , Masculino , Mães , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Estudos Prospectivos , Sepse/epidemiologia , Índice de Gravidade de Doença , Centros de Atenção Terciária
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