Factors Related to the Quality of Life in Children with Transfusion-Dependent Thalassemia.

Objective: Increased survival rate of patients with Transfusion-dependent Thalassemia (TDT) should be in line with their good quality of life (QoL). The study aimed to analyze the relationship between sociodemographic factors and clinical characteristics with the QoL of children with TDT. Methods: A cross-sectional study was conducted at Hasan Sadikin General Hospital from December 2022 to February 2023. A total of 158 eligible subjects aged 5-18 years with TDT were included in the analysis. QoL assessment was performed using child self-report and parent-proxy report questionnaires, along with physical examination findings. Bivariate and multivariate analyses were conducted to analyze the data. Results: A total of 158 subjects who met the research criteria were included in the analysis. Of 58.9% of children with TDT had a low adherence rate to iron chelating therapy (ICT). School function had the lowest score in QoL based on child-self report and parent proxy. Gender (p<0,05) and adherence to ICT (p<0,05) were significantly associated with lower quality of life. Conclusion: Female and adherence to ICT were predictors of children with TDT's QoL.

Effect of Executive Function on Health-Related Quality of Life in Children with Chronic Kidney Disease.

Introduction: As the highest function in the brain that regulates our daily activity, executive dysfunction might affect someone's health-related quality of life (HRQoL), especially in those with chronic diseases, including chronic kidney disease (CKD). Neurocognitive functions, including intelligence quotient (IQ) and executive function can be affected through various mechanisms in CKD. However, there was still no specific study regarding how IQ and executive function might affect HRQoL in children with CKD. Purpose: To assess Executive Function's impact on HRQoL and to find association between treatment modalities and CKD stages with HRQoL in children with CKD. Methods: A cross sectional study was conducted at Pediatric Nephrology Clinic at Hasan Sadikin General Hospital, Bandung, Indonesia from September 2022 to April 2023. We included 38 children whose age range were 6-16 years 11 months old with CKD stage III - V. Assessment tools used were: BRIEF questionnaire for executive function; WISC III tool for IQ; PedsQLTM questionnaire generic module for HRQoL. Data was analyzed using SPSS ver. 26.0. Results: Total number of samples was 38. Complete examinations were done on 30 patients. Eight other patients did not undergo the IQ test. There was a negative correlation between executive function components scores (GEC, BRI, MI) with HRQoL scores on parents' proxy in all domains. We found no correlation between HRQoL and IQ scores, but we found a correlation between IQ and CKD stage. There was a significant difference in HRQoL from the children's perspective among the three modalities; children who underwent conservative treatment were having the best HRQoL scores. Conclusion: Interventions to improve executive function of children with CKD should be done to improve their HRQoL in the future. Early diagnosis and treatment of CKD should be done at the earliest to improve neurocognitive function and HRQoL.

A Meta-Analysis of Atrial Septal Defect Closure in Patients With Severe Pulmonary Hypertension: Is There a Room for Poking Holes Amid Debate?

Severe pulmonary arterial hypertension (PAH) associated with atrial septal defect (ASD) poses a challenge to a closure of ASD, particularly severe PAH that persists even after pharmacological therapeutic strategy. Our study was aimed to evaluate this matter. A systematic literature search from several databases was conducted up until August 1st, 2023. A meta-analysis was undertaken on studies that reported hemodynamic measurements in ASD patients with severe PAH before and after closure. The primary objectives were the extent of improvement in all hemodynamic parameters following closure, and the secondary outcomes were major adverse cardiac events (MACEs) during follow-up. Our study comprised 10 studies with a total of 207 participants. Patients were divided into treat-and-repair and straight-to-repair groups based on the therapeutic strategy. Meta-analysis of all studies demonstrated significant improvement in mean pulmonary arterial pressure (mPAP), pulmonary vascular resistance (PVR), pulmonary vascular resistance index (PVRI), 6-minutes walking distance (6MWD), and lower prevalence of World Health Organization functional classes (WHO fc), particularly in the treat-and-repair strategy subgroup. Additionally, merely 4 of the 156 individuals died from cardiac causes, and only 1 required rehospitalization, indicating a low likelihood of MACEs arising. Our new findings support the notion that effective shunt closure can improve various hemodynamic parameters in carefully chosen patients with noncorrectable ASD-PAH. Further large and prospective observational studies are still warranted to validate these findings.

Left to right shunt congenital heart disease as a risk factor of recurrent pneumonia in under five-year-old children: a single centre experience in Bandung Indonesia.

Aim Children with congenital heart diseases are at the greater risk of respiratory tract infection such as pneumonia. Recurrent pneumonia is one of the most major challenge for paediatric physicians. The aim of this study is to investigate risk factors of congenital heart diseases to recurrent pneumonia children. Methods This was a retrospective study of under five-year-old children hospitalized in Hasan Sadikin General Hospital Bandung Indonesia from 2015 to 2018. Congenital heart diseases and pneumonia, as well as recurrent pneumonia, were identified. Congenital heart diseases diagnosis with and without pneumonia were reviewed. Results Of 6997 hospitalized children, in 1258 (18.0%) congenital heart diseases were found, of which 232 (18.4%) had recurrent pneumonia. Most of those had left to right (L to R) shunt, 213 (91.8%). Congenital heart diseases in children aged under 1 year, 144 (62%) were more preponderant than in those aged 1-5 years. More than a half, 119 (51.3%) were males. Left to right shunt was documented as having recurrent pneumonia, of which patent ductus arteriosus and ventricular septal defect were the most common type in congenital heart diseases. Ventricular septal defect had a possibility for recurrent pneumonia by 1.551 times, and malnutrition 2.591 times. Conclusion Ventricular septal defect and malnutrition were identified as risk factors for recurrent pneumonia. Those patients require multidisciplinary approach to prevent respiratory complications.

HLA-DRB1 allele distribution among children with rheumatic heart disease in Haji Adam Malik Hospital Medan, Indonesia.

Rheumatic heart disease (RHD) is influenced by genetic factor, microorganism's virulence, and environmental factor. The aim of this study was to determine human leukocyte (HLA)-DRB1 allele among children with RHD in Medan, Indonesia. Methods An observational study was conducted at the Department of Child Health, Haji Adam Malik Hospital Medan from April to June 2017. Inclusion criteria were children aged 5-18 years diagnosed with RHD. Children with concomitant congenital heart disease were excluded. HLA-DRB1 alleles were analyzed using the PCR sequence-specific priming (SSP) technique. Statistical analysis was done using computer software. Results A total of 62 children were enrolled. The mean age of children was 12.6 (SD 3.44) years; 33 (53.2%) were male. The most dominant allele was HLA-DRB1*12, followed by HLADRB1*15. Conclusion It is proven in this research that RHD is influenced by genetic factor with HLA-DRB1*12 allele found to be the most common allele in children with RHD in Medan, Indonesia.

Association between vitamin D levels and left ventricular function and NT-proBNP levels among thalassemia major children with iron overload.

BACKGROUND: Heart disease is the major cause of death in thalassemia patients. Repeated blood transfusions and hemolysis cause iron overload and also disrupts the hydroxylation and synthesis of vitamin D, causing vitamin D deficiency. Vitamin D deficiency is associated with cardiac dysfunction. OBJECTIVE: The purpose of this study was to determine the association between vitamin D levels and left ventricular function and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels in thalassemia major children with iron overload. PATIENTS AND METHODS: A cross-sectional study was conducted in March-April 2015 in the thalassemia clinic, Department of Child Health, Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. Thirty-four children with thalassemia were enrolled consecutively. Serum vitamin D and NT-proBNP levels were measured with electrochemiluminescence (ECLIA) method and echocardiography was performed to assess ventricular function. RESULTS: Significant correlations were found between vitamin D levels and left ventricular ejection fraction (LVEF) (r = 0.399, P = 0.019) and fractional shortening (FS) (r = 0.394, P = 0.021). There was also significant correlation between vitamin D and NT-proBNP levels (r = -0.444, P = 0.008). Chi-square analysis also showed a relationship between vitamin D and NT-proBNP (P = 0.019) levels. There was a difference in NT-proBNP levels among thalassemia major children with iron overload (P = 0.020). Post hoc analysis showed that there was a significant difference in NT-proBNP levels between those with vitamin D deficiency and those with normal vitamin D levels (P = 0.012). CONCLUSION: There is an association between vitamin D and left ventricular function and NT-proBNP levels in children with thalassemia major and iron overload. Vitamin D can be considered in patients with thalassemia having vitamin D deficiency.

Genetic polymorphism in postoperative sepsis after open heart surgery in infants.

BACKGROUND: Sepsis is one of the complications following open heart surgery. Toll-like receptor 2 and toll-interacting protein polymorphism influence the immune response after open heart surgery. This study aimed to assess the genetic distribution of toll-like receptor 2 N199N and toll-interacting protein rs5743867 polymorphism in the development of postoperative sepsis. METHODS: A prospective cohort study was conducted in 108 children <1-year old who underwent open heart surgery with a Basic Aristotle score ≥6. Patients with an accompanying congenital anomaly, human immunodeficiency virus infection, or history of previous open heart surgery were excluded. The patients' nutritional status and genetic polymorphism were assessed prior to surgery. The results of genetic polymorphism were obtained through genotyping. Patients' ages on the day of surgery and cardiopulmonary bypass times were recorded. The diagnosis of sepsis was established according to Surviving Sepsis Campaign criteria. RESULTS: Postoperative sepsis was observed in 21% of patients. There were 92.6% patients with toll-like receptor 2 N199N polymorphism and 52.8% with toll-interacting protein rs5743867 polymorphism. CONCLUSIONS: Toll-like receptor 2 N199N polymorphism tends to increase the risk of sepsis (odds ratio = 1.974; 95% confidence interval: 0.23-16.92; p = 0.504), while toll-interacting protein rs5743867 polymorphism tends to decrease the risk of sepsis (odds ratio = 0.496; 95% confidence interval: 0.19-1.27; p = 0.139) in infants <1-year old undergoing complex open heart surgery.

Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.

We analysed the GATA binding protein 4 gene, or GATA4, along with the NK2 transcription factor related, locus 5 gene, or NKX2.5, to determine their genetic contribution to 104 sporadic patients in Indonesia with congenitally malformed hearts, 76 cases having atrial septal defect and 28 tetralogy of Fallot. We found only 1 novel mutation of GATA4 in those with atrial septal defects. Analysis of the genetic background of the parents of the patient showed for the first time that a new mutation of GATA4 can cause sporadic atrial septal defects. We failed to discover any other mutations of either the GATA4 or NKX2-5 genes, supporting the marked genetic heterogeneity of human congenital cardiac defects.