B2 adrenergic receptor gene polymorphism effect on childhood asthma severity and response to treatment.

BackgroundAlterations of B2 adrenergic receptor (ß2AR) can modulate the severity of asthma and the response to treatment. Therefore, we aimed to evaluate ß2AR gene polymorphism at codons 16 and 27 and their effect on asthma severity and response to treatment in asthmatic children.MethodsCase-control study was conducted on 156 children; 104 of them had bronchial asthma and 52 were healthy children (control group). Subjects of the study underwent history taking, clinical examination, pulmonary function tests, serum IgE level assessment, and identification of ß2AR-16 A46G and ß2AR-27 C79G polymorphism using PCR-Restriction Fragment length polymorphisms (RFLP) test.ResultsThere was a higher frequency of Arg-Gly genotypes (odds ratio (OR)=6.57; confidence interval (CI): 2.42-18.81, P<0.001) and lower frequency of Arg-Arg (OR=4.7; CI: 2.05-10.95, P<0.001) among asthmatic children compared with that among controls at codon 16. The presence or absence of Gly16 or Glu27 either homozygous or heterozygous for both correlated with the grade of asthma severity. The presence of heterozygous Arg-Gly and Gln-Glu gives a better response to drug therapy than the presence of Gly-Gly and Glu-Glu genotypes at codons 16 and 27.ConclusionPolymorphism of ß2AR at codons 16 and 27 correlates with asthma severity and response to treatment in asthmatic children.

Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major.

OBJECTIVE: The purpose of this study was to illustrate the association between vascular endothelial growth factor level and pulmonary artery hypertension in children with ß-thalassemia major. METHOD: This case-control study was conducted on 116 children with ß-thalassemia major; 58 of them had pulmonary artery hypertension. They were compared to 58 healthy children who were age and sex-matched (control group). Serum levels of vascular endothelial growth factor and echocardiographic assessment were done for all children. RESULTS: Vascular endothelial growth factor serum level was significantly higher in children with ß-thalassemia major with pulmonary artery hypertension than in those without pulmonary artery hypertension, as well as in control groups (p<0.001). Vascular endothelial growth factor serum level had a significant positive correlation with pulmonary artery pressure and serum ferritin, as well as a significant negative correlation with the duration of chelation therapy. Logistic regression analysis revealed that elevated vascular endothelial growth factor (Odd Ratio=1.5; 95% Confidence Interval, 1.137-2.065; p=0.005) was an independent risk factor of pulmonary artery hypertension in such children. Vascular endothelial growth factor serum level at a cutoff point of >169pg/mL had 93.1% sensitivity and 93.1% specificity for the presence of pulmonary artery hypertension in children with ß-thalassemia major. CONCLUSION: Elevated vascular endothelial growth factor serum level is associated with pulmonary artery hypertension in children with ß-thalassemia.

The antioxidant status of coenzyme Q10 and vitamin E in children with type 1 diabetes.

OBJECTIVE: The purpose of this study was to evaluate the antioxidant status of plasma vitamin E and plasma and intracellular coenzyme Q10 in children with type 1 diabetes. METHOD: This case-control study was conducted on 72 children with type 1 diabetes and compared to 48 healthy children, who were age, sex, and ethnicity-matched. The diabetic children were divided according to their glycosylated hemoglobin (A1c %) into two groups: poor and good glycemic control groups. All children underwent full history taking, clinical examination, and laboratory measurement of complete blood count, A1c %, plasma cholesterol, triglycerides, and vitamin E levels and coenzyme Q10 levels in plasma, erythrocytes, and platelets. RESULTS: Children with poor glycemic control showed significantly higher plasma vitamin E, coenzyme Q10, triglycerides, low-density lipoproteins, waist circumference/height ratio, cholesterol levels, and lower high-density lipoproteins and platelet coenzyme Q10 redox status in comparison to those with good glycemic control and the control group (p<0.05). Plasma coenzyme Q10 showed a positive correlation with the duration of type 1 diabetes, triglycerides, cholesterol, vitamin E, and A1c %, and negative correlation with the age of the diabetic group (p<0.05). The platelet redox status showed a negative correlation with the A1c % levels (r=-0.31; p=0.022) and the duration of type 1 diabetes (r=-0.35, p=0.012). CONCLUSION: Patients with type 1 diabetes, especially poorly controlled, had elevation of plasma vitamin E and coenzyme Q10 levels and decreased platelet redox status of coenzyme Q10, which may be an indicator of increased oxidative stress.

Interleukin-4 -590C/T gene polymorphism in Egyptian children with acute lower respiratory infection: A multicenter study.

BACKGROUND: Acute lower respiratory infection (ALRI) is the leading cause of child mortality, especially in the developing world. Polymorphisms in the interleukin 4 (IL-4) gene have been linked to a variety of human diseases. OBJECTIVES: To investigate whether the IL-4 -590C/T (rs2243250) polymorphism could be a genetic marker for susceptibility to ALRIs in young Egyptian children. METHODS: This was a multicenter study conducted on 480 children diagnosed with pneumonia or bronchiolitis, and 480 well-matched healthy control children. Using PCR-RFLP analysis, we genotyped a -590C/T (rs2243250) single nucleotide polymorphism of the IL-4 gene promoter, meanwhile the serum IL-4concentration was measured by ELISA. RESULTS: The frequency of the IL-4 -590 T/T genotype and T allele were overrepresented in patients with ALRIs in comparison to the control group (OR = 2.0; [95% confidence interval [CI]: 1.38-2.96]; for the T/T genotype) and (OR: 1.3; [95%CI: 1.07-1.56]; for the T allele; P < 0.01). The IL-4 -590 T/T genotype was associated with significantly higher mean serum IL-4 concentration (58.7 ± 13.4 pg/mL) compared to the C/T genotype (47.6 ± 11 pg/mL) and the C/C genotype (34.8 ± 9.6 pg/mL); P < 0.01. CONCLUSION: The IL-4 -590C/T (rs2243250) polymorphism may contribute to susceptibility to ALRIs in young Egyptian children.

Trace elements and oxidative stress in children with type 1 diabetes mellitus.

BACKGROUND: The early imbalances of trace elements in type 1 diabetes (T1D) may cause disturbance of glucose metabolism and more oxidative stress that may enhance the development of insulin resistance and diabetic complications. We aim to evaluate the serum level of selenium (Se), zinc (Zn), magnesium (Mg), and copper (Cu), the degree of oxidative stress and evaluate their relations to glycemic control in children with T1D. METHODS: A case-control study which included 100 diabetic children and 40 healthy children age, sex, and ethnicity-matched as a control group. The diabetic children were divided into poor and good controlled patients according to glycosylated hemoglobin (A1c %). Studied children underwent history taking, clinical examination and laboratory measurement of serum Se, Zn, Mg, and Cu levels, erythrocyte reduced glutathione (GSH) and peroxidase enzyme activity (GPx). RESULTS: Serum Se, Zn, Mg, Cu, erythrocyte GSH, and GPx were significantly lower in the diabetic group in comparison to the control group (P<0.05) and their levels were lower in poorly controlled patients compared to good controlled patients (P<0.05). The serum Se, Zn, Mg, erythrocyte GSH, and GPx showed a negative correlation with A1c %. The serum Se showed a positive correlation with erythrocyte GSH and GPx ([r=0.56, P<0.001], [r=0.78, P<0.001], respectively). CONCLUSION: Children with T1D, especially poorly controlled cases, had low serum Se, Zn, Mg, Cu, GSH, and GPx. Low serum Se in diabetic children may affect the erythrocyte GSH-GPx system.

The role of serum apelin in retinopathy of prematurity.

OBJECTIVE: To evaluate the role of serum apelin as a diagnostic tool in retinopathy of prematurity (ROP) disease. PATIENTS AND METHODS: Thirty-eight preterm infants (60% male) with gestational age ranging from 30 to 36 weeks admitted to the neonatal intensive care unit, KJO Hospital, Saudi Arabia with proven diagnosis of ROP were included in the study. In addition, 27 preterm infants without ROP served as controls. All newborn infants in the study were subjected to adequate history taking, full clinical examination, and fundus examination by indirect ophthalmoscope (at 4-6 weeks) as well as determination of serum apelin at birth and at 4-6 weeks of age. RESULTS: The study revealed that oxygen therapy longer than 7 days' duration, cesarean section (as a mode of delivery), sepsis, mechanical ventilation, blood transfusion, premature rupture of membranes, pneumothorax, perinatal asphyxia, cardiac problems, and neonatal jaundice were considered as risk factors related to development of ROP. Serum apelin levels were significantly lower in patients than controls (P<0.001) at time of diagnosis of the disease (4-6 weeks) while no significant differences were observed in levels at birth. CONCLUSION: Serum apelin was found to be of significant diagnostic value in the occurrence of ROP.

Early predictors of brain damage in full-term newborns with hypoxic ischemic encephalopathy.

OBJECTIVE OF THE STUDY: To evaluate the value of serum creatine phosphokinase-brain specific (CK-BB) and urinary lactate/creatinine (L/C) ratio as early indicators of brain damage in full-term newborns with hypoxic ischemic encephalopathy (HIE). PATIENTS AND METHODS: A case-control study including 25 full-term new-born infants with perinatal asphyxia who were admitted to neonatal intensive care unit (NICU) with a proven diagnosis of HIE, compared to 20 healthy age- and sex-matched full-term newborns. All newborn infants were subjected to full history taking, clinical examination, routine investigations (cord blood gases and complete blood picture), and assessment of serum CK-BB (cord blood, 6 and 24 hours after birth) and urinary L/C ratio (collected within the first 6 hours, on the 2nd and 3rd day after birth). RESULTS: The serum CK-BB and urinary L/C ratio in infants with HIE were significantly higher in samples collected throughout the monitoring period when compared with the control group (all P<0.001). The cord CK-BB and urinary L/C ratio within the first 6 hours were significantly higher in infants with severe HIE than in infants with mild and moderate HIE (P<0.001). Cord CK-BB level at 12.5 U/L had 100% sensitivity and 84% specificity in the detection of severe HIE infants. Urinary L/C ratio of more than 10.5 collected within the first 6 hours after birth had 100% sensitivity and 78% specificity for the detection of severe HIE infants. CONCLUSION: The serum CK-BB and urinary L/C ratio in HIE infants were significantly increased early in the course of the disease, which can be used as useful indicators for predicting the development of HIE.

Angiotensin-converting enzyme insertion/deletion gene polymorphism in Egyptian children with CAP: A case-control study.

BACKGROUND: Community-acquired pneumonia (CAP) is a major cause of childhood morbidity and mortality worldwide. The angiotensin-converting enzyme (ACE) gene is a potential candidate gene for CAP risk. OBJECTIVES: In this study, we aimed to investigate whether the ACE insertion/deletion (I/D) polymorphism (rs4340) could be a genetic marker for CAP susceptibility in Egyptian children, and we also measured the serum ACE level to assess its relation to such polymorphism. METHODS: This was a prospective case-control study included 300 patients with CAP, and 300 age, gender, and ethnicity matched healthy controls. The ACE I/D polymorphism (rs4340) at intron 16 was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while the serum ACE levels were measured by ELISA. RESULTS: Compared to the controls subjects, the frequencies of the ACE DD genotype and D allele were overrepresented in patients with CAP (OR = 3.05; [95%CI: 2.14-4.35] for the DD genotype; P < 0.001) and (OR: 1.8; [95%CI: 1.42-2.29]; for the D allele; P < 0.01, respectively). Patients with the DD genotype had significantly higher mean serum ACE levels (45.6 ± 11.4 U/L) compared to those with ID genotype (36.5 ± 8.3 U/L) and II genotype (21.6 ± 5.7 U/L); P < 0.01, respectively. CONCLUSION: The ACE I/D polymorphism (rs4340) may contribute to the genetic susceptibility of CAP in Egyptian children. The ACE D allele and DD genotype were associated with higher serum ACE levels among studied CAP patients.

Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major / Fator de crescimento endotelial vascular e hipertensão pulmonar em crianças com talassemia beta maior

Abstract Objective: The purpose of this study was to illustrate the association between vascular endothelial growth factor level and pulmonary artery hypertension in children with β-thalassemia major. Method: This case-control study was conducted on 116 children with β-thalassemia major; 58 of them had pulmonary artery hypertension. They were compared to 58 healthy children who were age and sex-matched (control group). Serum levels of vascular endothelial growth factor and echocardiographic assessment were done for all children. Results: Vascular endothelial growth factor serum level was significantly higher in children with β-thalassemia major with pulmonary artery hypertension than in those without pulmonary artery hypertension, as well as in control groups (p < 0.001). Vascular endothelial growth factor serum level had a significant positive correlation with pulmonary artery pressure and serum ferritin, as well as a significant negative correlation with the duration of chelation therapy. Logistic regression analysis revealed that elevated vascular endothelial growth factor (Odd Ratio = 1.5; 95% Confidence Interval, 1.137-2.065; p = 0.005) was an independent risk factor of pulmonary artery hypertension in such children. Vascular endothelial growth factor serum level at a cutoff point of >169 pg/mL had 93.1% sensitivity and 93.1% specificity for the presence of pulmonary artery hypertension in children with β-thalassemia major. Conclusion: Elevated vascular endothelial growth factor serum level is associated with pulmonary artery hypertension in children with β-thalassemia.

Resumo: Objetivo: A finalidade deste estudo foi exemplificar a associação entre o nível de fator de crescimento endotelial vascular e a hipertensão arterial pulmonar em crianças com talassemia beta maior. Método: Este estudo caso-controle foi realizado em 116 crianças com talassemia beta maior; 58 das quais apresentaram hipertensão arterial pulmonar em comparação com 58 crianças saudáveis pareadas por idade e sexo (grupo de controle). Os níveis séricos do fator de crescimento endotelial vascular e a avaliação ecocardiográfica foram realizados em todas as crianças. Resultados: O nível sérico do fator de crescimento endotelial vascular foi significativamente maior em crianças com talassemia beta maior com hipertensão arterial pulmonar que as crianças sem hipertensão arterial pulmonar e os grupos de controle (p < 0,001). O nível sérico do fator de crescimento endotelial vascular apresentou uma correlação positiva significativa com a pressão arterial pulmonar e a ferritina sérica e correlação negativa significativa com a duração da terapia de quelação. A análise de regressão logística revelou que o fator de crescimento endotelial vascular elevado (RC = 1,5; IC de 95%: 1,137-2,065; p = 0,005) foi um fator de risco independente de hipertensão arterial pulmonar nessas crianças. O nível sérico do fator de crescimento endotelial vascular no ponto de corte > 169 (pg/mL) apresentou 93,1% de sensibilidade e 93,1% de especificidade na presença de hipertensão arterial pulmonar em crianças com talassemia beta maior. Conclusão: O nível sérico do fator de crescimento endotelial vascular elevado está associado à hipertensão arterial pulmonar em crianças com talassemia beta.

The antioxidant status of coenzyme Q10 and vitamin E in children with type 1 diabetes / Estado antioxidante da coenzima Q10 e da vitamina E em crianças com diabetes tipo 1

Abstract Objective: The purpose of this study was to evaluate the antioxidant status of plasma vitamin E and plasma and intracellular coenzyme Q10 in children with type 1 diabetes. Method: This case-control study was conducted on 72 children with type 1 diabetes and compared to 48 healthy children, who were age, sex, and ethnicity-matched. The diabetic children were divided according to their glycosylated hemoglobin (A1c %) into two groups: poor and good glycemic control groups. All children underwent full history taking, clinical examination, and laboratory measurement of complete blood count, A1c %, plasma cholesterol, triglycerides, and vitamin E levels and coenzyme Q10 levels in plasma, erythrocytes, and platelets. Results: Children with poor glycemic control showed significantly higher plasma vitamin E, coenzyme Q10, triglycerides, low-density lipoproteins, waist circumference/height ratio, cholesterol levels, and lower high-density lipoproteins and platelet coenzyme Q10 redox status in comparison to those with good glycemic control and the control group (p < 0.05). Plasma coenzyme Q10 showed a positive correlation with the duration of type 1 diabetes, triglycerides, cholesterol, vitamin E, and A1c %, and negative correlation with the age of the diabetic group (p < 0.05). The platelet redox status showed a negative correlation with the A1c % levels (r = −0.31; p = 0.022) and the duration of type 1 diabetes (r = −0.35, p = 0.012). Conclusion: Patients with type 1 diabetes, especially poorly controlled, had elevation of plasma vitamin E and coenzyme Q10 levels and decreased platelet redox status of coenzyme Q10, which may be an indicator of increased oxidative stress.

Resumo Objetivo: Avaliar o estado antioxidante da vitamina E no plasma e da coenzima Q10 no plasma e intracelular em crianças com diabetes tipo 1. Método: Este estudo caso-controle realizado em com 72 crianças com diabetes tipo 1 comparadas por idade, sexo e etnia de 58 crianças saudáveis. As crianças diabéticas foram divididas em dois grupos de acordo com sua hemoglobina glicosilada (A1c %): grupos de controle glicêmico bom e baixo. Todas as crianças foram submetidas a anamnese total, exame clínico e laboratorial para hemograma completo, A1c %, colesterol no plasma, triglicerídeos e níveis de vitamina E e níveis de coenzima Q10 no plasma, eritrócitos e plaquetas. Resultados: As crianças com baixo controle glicêmico mostraram nível de vitamina E no plasma significativamente maior, coenzima Q10, triglicerídeos, lipoproteína de baixa densidade, proporção da circunferência da cintura/estatura e níveis de colesterol e menor nível de lipoproteína de alta densidade e estado redox da coenzima Q10 em comparação aos com bom controle glicêmico e com o grupo de controle (p < 0,05). A coenzima Q10 no plasma mostrou correlação positiva com a duração da diabetes tipo 1, triglicerídeos, colesterol, vitamina E e A1c % e correlação negativa com a idade do grupo diabético (p < 0,05). O estado redox das plaquetas mostrou correlação negativa com os níveis de A1c % (r = -0,31; p = 0,022) e a duração da diabetes tipo 1 (r = -0,35, p = 0,012). Conclusão: Os pacientes com diabetes tipo 1, principalmente mal controlados, apresentaram aumento nos níveis de vitamina E no plasma e coenzima Q10 e redução no estado redox das plaquetas da coenzima Q10 que podem indicar aumento do estresse oxidativo.