Assessment of vitamin D status and vitamin D receptor polymorphism in Egyptian children with Type 1 diabetes.

BACKGROUND: The endocrine system of vitamin D regulates about 3 % of the human genome. Vitamin D exerts its actions via a nuclear vitamin D receptor (VDR) which in turn regulates insulin secretion from the pancreas. VDR gene polymorphisms could have an impact on how autoimmune illnesses like Type 1 diabetes mellitus (T1DM) develop. We aimed to explore the relation between T1DM and VDR gene polymorphisms in Egyptian diabetic children and their siblings. METHODS: Enzyme-linked immunosorbent assay was used to quantify 25(OH) vitamin D in the study, which had 179 participants (group 1 = 85 diabetic children, group 2 = 57 siblings of the patients, group 3 = 37 healthy controls). Real-time polymerase chain reaction (RT-PCR) was used to analyze the genotyping of the VDR gene polymorphisms Apa-I (rs7975232), Fok-I (rs2228570), Taq-I (rs731236) and Bsm-I (rs1544410). RESULTS: The mean serum 25(OH) vitamin D levels was significantly lower in T1DM patients (14.99 ± 9.24 ng/mL) and siblings (16.31 ± 7.96 ng/mL) compared to the controls (19.48 ± 7.42 ng/mL) (p = 0.031). The genotypes distribution of VDR Fok-I (rs2228570) and Bsm-I (rs1544410) polymorphisms showed a significant difference between patients, siblings and controls as P = 0.001 and 0.026 respectively, while the VDR ApaI and TaqI polymorphisms did not. FokI-A allele frequency was significantly lower in T1DM patients and siblings than in controls (p < 0.001). FokI-AA genotype had a statistical significant higher vitamin D levels than other genotypes with p value of 0.024. CONCLUSION: Our study found that T1DM children had lower vitamin D levels, and VDR FokI and BsmI gene polymorphisms were linked to T1DM in Egyptian children. Determining the relationship between vitamin D levels and VDR polymorphisms, particularly the FokI and other genetic analyses may aid in the early diagnosis of T1DM in children.

N-terminal pro-brain natriuretic peptide as a biomarker for differentiating cardiac and pulmonary disease in term neonates with respiratory distress.

OBJECTIVE: Brain natriuretic peptide (BNP) is synthesized in the cardiac ventricles and released in response to volume or pressure load. The aim of the study was to determine whether plasma level of N-terminal pro BNP (NT-pro BNP) can distinguish between cardiac and pulmonary disease (PD) among neonates with respiratory distress (RD). PATIENTS AND METHODS: The study included 48 term neonates in the first month of life with signs of RD. They were recruited from Neonatal Intensive Care Unit of Al-Galaa Teaching Hospital. Twenty-six healthy neonates were included as a control group. The degree of RD was assessed using Silverman-Anderson score. Chest X-ray, echocardiography, and laboratory measurement of NT-pro BNP were performed. RESULTS: According to the underlying disease, neonates with RD were divided into 28 neonates with PD and 20 neonates with congenital heart disease (CHD). Regardless the etiology of RD, NT-pro BNP was significantly higher in the RD group than in the control (p = 0.001). There was a significant difference between and within the three groups regarding NT-pro BNP (p = 0.001). NT-pro BNP was significantly higher in the CHD group than in the PD group (p = 0.001). There was a significant difference between and within RD subgroups. The NT-pro BNP is a very useful test for identification of CHD in neonates with RD. Area under the receiver operating characteristic curve for CHD was 0.857 (p = 0.01), sensitivity 66%, specificity 85%, and cutoff point was 24.5 pg/mL. The area under the curve for PD was 0.646 (p = 0.1) with poor sensitivity and specificity, indicating that NT-pro BNP is a poor test for identification of PD in neonates with RD. CONCLUSION: Term neonates with RD have increased plasma levels of NT-pro BNP. NT-pro BNP is a very good test for identification of CHD in neonates with RD, in comparison with PD. Therefore, plasma NT-pro BNP can be used to differentiate between cardiac and pulmonary cause of RD.

NT-proBNP in Children With Left to Right Shunt and Dilated Cardiomyopathy.

BACKGROUND: B-type natriuretic peptide (BNP) levels are elevated in children with congenital heart disease involving a left-to-right shunt (LRS) and are also raised in dilated cardiomyopathy (DCM). As far as we know, there are few reports in the literature comparing the change of the NT-proBNP in LRS and DCM especially in the pediatric age group. OBJECTIVES: The aim of the study was to compare the changes of the NT-proBNP in pediatric patients with LRS and DCM. Correlation between the levels of NT-proBNP and the echocardiographic parameters in both groups was determined. PATIENTS AND METHODS: A total of 30 children (13 males and 17 females) participated in the study. There were 11/30 (36.7%) DCM and 19/30 (63.3%) LRS. The control group consisted of 44 healthy infants and children. Manifestations of heart failure (decompensation) were recorded. The NT-pro BNP levels were measured. The following Echo parameters were assessed: systolic function (ejection fraction and fraction shortening), pulmonary to systemic flow (Qp/Qs) in LRS, pulmonary flow and pulmonary artery pressure (SPAP) and LV diastolic function (E-wave, A-wave, E/A ratio and deceleration time). RESULTS: Clinically 17/30 (56.7%) (11 of the LRS and 5 of the DCM) were decompensated. Significant shunt was present in 15/19 (78.9%) in LRS. Systolic dysfunction was presented in 5/30 (16.7%) cases (4 patients were DCM and one case was LRS). Two types of diastolic dysfunction, impaired relaxation in 5/22 (22.7%) patients and restrictive-like filling pattern in 5/16 (31.2 %) were observed. The NT-Pro BNP level was significantly elevated 11 and 16 times in the LRS and DCM groups respectively. Negative significant correlations were observed between the levels of NT-ProBNP and the following echo variables; EDD, LAD, E wave and E/A ratio in the LRS patients. Positive significant correlations were observed between the levels of NT-ProBNP and the following echo variables; PAP and QP/QS in the LRS. Both the PAP and QP/QS were higher in the elevated NT-Pro BNP group compared to the normal level group. The NT-Pro BNP level was elevated in all 17/30 (56.7%) decompensated patients (11 were LRS, 6 were DCM) (P = 0.002). However, the level was elevated in only 7/13 (23.3%) of the compensated patients (3 were LRS, 4 were DCM) (P = 0.002). The NT-Pro BNP level was also elevated in 18/19 cases with pulmonary hypertension (P = 0.01). Finally, we conclude that the NT-ProBNP level is elevated in both LRS and DCM in pediatric age. This elevation is more remarkable with heart failure and increased PAP in both diseased groups. The level was also elevated and correlated to Qp/Qs in the LRS patients. CONCLUSIONS: So, we recommend the use of NT-ProBNP as a routine marker for following up patients with heart failure and pulmonary hypertension in LRS and DCM.