Journal of Tropical Pediatrics最新文献

Variants in the SLC26A4 gene are the most common cause of hereditary hearing loss in Pakistan, and the second most common cause worldwide. Advances in genetic diagnosis can make it more time-efficient, cost-effective, and accessible to clinicians and patients. The study aimed to screen 260 consanguineous Pakistani families with hereditary hearing loss for the DFNB4/PDS locus and to detect pathogenic SLC26A4 variants across different castes. We used homozygosity mapping to predict pathogenic variants and selected seven SLC26A4 exons for direct sequencing in 19 of the 23 DFNB4/PDS-linked families, based on haplotype comparison. Sequencing data were analyzed using Chromas software (Technelysium Pty. Ltd, version 1.45), and the detected variants were stratified by castes of the enrolled families. Four missense variations (c.269C>T, c.716T>A, c.1337A>G, and c.1667A>G) were identified in 16 families, as predicted by haplotype analysis, in exons 3, 6, 11, and 15 of SLC26A4. The Q446R (c.1337A>G) variant was identified in eight families, all belonging to the Arain caste of Pakistan. Caste data from a previous study of Pakistani patients similarly supported its potential role in caste-based genetic diagnosis. In PKDF497, six double heterozygotes for variants of GJB2 and SLC26A4 were detected without hearing loss. We present evidence supporting caste-based targeted variant screening for hereditary hearing loss. Following additional validation studies, caste-based targeted variant screening for common hereditary disorders could be implemented in developing countries, particularly in South Asia, to provide faster and more cost-effective molecular diagnosis compared to whole-genome or whole-exome sequencing.

The periviable period represents the earliest stage of foetal maturity, where survival outside the womb is possible but uncertain. With no national consensus on periviable care, management depends on family preferences, clinical expertise, and available resources. This study evaluates outcomes of periviable infants in a tertiary-care neonatal unit. To assess mortality, in-hospital morbidities, and neurodevelopmental outcomes in periviable infants across two time periods. This retrospective cohort included infants born between 23 + 0 and 26 + 0 weeks, who received active intensive care and survived beyond 12 hours, from January 2017 to December 2023. Two epochs were defined: 2017-20 (epoch 1) and 2021-23 (epoch 2), to evaluate the impact of evolving perinatal and neonatal practices on outcomes (survival and morbidities). Neurodevelopmental follow-up was performed at 1-2 years corrected age using the Developmental Assessment Scale for Indian Infants (DASII). Data analysis was performed using SPSS. Among 140 infants (71 epoch 1, 69 epoch 2), baseline gestational age and birth weight were comparable. Mortality was 42.3% in epoch 1 vs. 30.4% in epoch 2 (P = .15). Bronchopulmonary dysplasia (BPD) rates were 40% vs. 45% (P = .66). The composite outcome of death/BPD was 67.7% vs. 60.7% (P = .41). Neurodevelopmental delay was seen in 36% vs. 42.9% (P = .77). None of the differences were statistically significant. Periviable infants continue to have high mortality, morbidity, and neurodevelopmental impairment. No significant improvements in survival or BPD rates were observed between epochs.

Injury is the leading cause of death for youth aged 5-24 years with the majority of deaths occurring in low- and middle-income countries (LMICs). Interventions directed at reaching appropriate care faster have the potential to improve pediatric injury-related outcomes in LMICs. Using a pediatric injury registry, we examined the rates of morbidity and mortality of pediatric injury patients in Northern Tanzania based on referral status, location, distance, and time to definitive care. We included 849 patients aged <18 years. Patients treated at a health care facility prior to KCMC had higher morbidity that those who presented direct to KCMC. There was no significant association between distance of first care site to KCMC and mortality or morbidity, however there was a statistically significant increase in mortality with longer time to definitive care at KCMC. We found that pediatric injury patients treated at first care sites prior to KCMC had higher morbidity. Additionally, the chance of mortality was statistically higher in pediatric injury patients who took longer than 48 hours to reach definitive care at KCMC. This study identifies facilities with longer median times and allows for future targeted interventions to improve pediatric readiness and raising awareness of the importance of timely pediatric specific injury care.

The pediatric intensive care unit (PICU) at the Academic Hospital Paramaribo (AHP), operational since 2017, is the only tertiary referral center for critically ill children in Suriname. This study aims to describe the clinical and demographic characteristics and outcomes of critically ill children treated in the PICU over 2 years, and to assess risk factors associated with mortality during PICU admission. A retrospective study of admissions from children 16 years and younger admitted to the PICU of the AHP between January 1, 2021, and December 31, 2022. During the study period, 424 PICU admissions were included, of which 91% were acute and unplanned. The most frequent medical reasons for admission were convulsions (8.5%), pneumonia/lung abscess/empyema (7.5%), and bronchiolitis (7.3%). One hundred thirty-six admissions (32.0%) received mechanical ventilation, and 104 (24.5%) required inotropes. The median PICU stay was 3 days (interquartile range 0-6), with a mortality rate of 12.0%. In the multivariate analysis, only male gender, mechanical ventilation, and inotropes were associated with increased risk of death. The results of this benchmarking study can ultimately serve as a valuable resource for policy-makers and important stakeholders in the process of improving the care provided to critically ill children in Suriname.

Neonatal screening has not been demanded by pediatricians nor parents in India because of limited resources, inadequate health information, early hospital discharges, a large rate of deliveries at home, and challenges with follow-up of results. This study was conducted based on the laboratory e-records from the Newborn Screening Unit, where Dried Blood Spot-based analysis was performed for G6PD deficiency, congenital adrenal hyperplasia, neonatal hypothyroidism, biotinidase deficiency, and galactosemia. The total study population comprised 3210 neonates. Overall, 329 children (10.2%) had some form of inherited disorder, and 12 (0.4%) suffered from two disorders concomitantly. The highest number of children were suffering from partial biotinidase deficiency (4.5%), followed by G6PD deficiency (2.7%). There was no significant difference in the levels of measured analytes in males and females, except for 17-OHP, which was significantly higher in males. Compared with females, males were more likely to have G6PD and biotinidase deficiency. Our study provides a snapshot of five inherited disorders previously unexamined by neonatal screening in Eastern India. We found a high prevalence of G6PD deficiency and other substantive neonatal conditions. Now that the significant prevalence of these disorders is known, stakeholders should work with policy-makers to institute national-level screening to determine their distribution in the broader population and address them in affected groups. Further studies are needed to identify effective implementation strategies, overcome financial and logistical barriers to an NBS program, and assess whether such a program can reach and benefit all communities, especially the most vulnerable.

To assess whether dietary supplementation with couscous, a rich source of corn starch, influences breast milk production and weight gain in exclusively breastfed infants. An experimental clinical trial with crossover design was conducted involving 30 breastfeeding mothers. The participants were divided into two groups: One group consumed 70 g of couscous daily for 20 days, followed by a 20-day period without supplementation, while the other group followed the reverse order. Infant weight gain was measured on days 1, 20, and 40, and the increase in milk production was assessed using a Likert scale. Infants whose mothers consumed couscous showed a significantly greater weight gain (33.7 g/day) compared to the group without supplementation (24.6 g/day), with P-value = .007. Additionally, 60% of mothers reported a marked increase in milk production while consuming couscous. Couscous supplementation proved to be a viable strategy for enhancing both milk production and infant weight gain.

To evaluate the association between assisted reproductive techniques (ART) and the risk of attention-deficit hyperactivity disorder (ADHD) in children. A systematic search was done in PubMed, Embase, Web of Science, and Scopus. Cohort and case-control studies were included. Effect sizes were pooled using hazard ratios (HRs) with 95% confidence intervals (CIs), and subgroup analyses were performed by sex, multiplicity of pregnancy, and gestational age. Heterogeneity and publication bias were assessed, and the certainty of evidence was evaluated using GRADE criteria. Children conceived through in vitro fertilization (IVF)/intracytoplasmic sperm injection had a slightly increased risk of ADHD compared to those conceived spontaneously (HR 1.07, 95% CI: 1.04, 1.10), with a moderate certainty of evidence. Three studies on ovulation induction /intrauterine insemination led to a pooled effect size of HR 1.13 (95% CI: 1.04, 1.23) with a moderate certainty of evidence. Subgroup analyses indicated an increased risk in both boys and girls. Singleton pregnancies exhibited a higher risk, while no significant association was observed in multiple pregnancies. Term births showed an elevated risk, with a higher but non-significant effect size in preterm births. Moderate certainty of evidence suggests that the magnitude of observed risk of ADHD is small in ART-conceived children, which is reassuring for parents and clinicians. Long-term monitoring, developmental screening, and tailored counselling for parents of ART-conceived children might be useful.

Background: Familial hypercholesterolemia (FH), which is traditionally viewed as a monogenic disorder, has significant variability in its phenotypic expression, particularly its physical characteristics. Understanding the relationship between genotype and phenotype is essential for the effective diagnosis and management of this condition, especially in pediatric populations. This study aimed to investigate the correlation between genotype and phenotype in Egyptian children diagnosed with FH.

Methods: A consecutive sample of 35 Egyptian children diagnosed with FH was recruited for the study. Phenotypic characteristics were comprehensively analyzed and correlated with genetic variants. Next-generation sequencing was employed to identify pathogenic variants in genes associated with FH.

Results: Among the 35 cases analyzed, 33 (94.3%) were found to have pathogenic variants in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or PCSK9 genes, with variants in LDLR accounting for approximately 90% of these cases. Zygosity analysis indicated that 63.6% of the children had biallelic pathogenic variants, with 42.4% being homozygous and 21.2% compound heterozygous, whereas the remaining 36.4% were heterozygous. The occurrence of xanthomas, early markers of atherosclerosis, abnormal echocardiographic findings, and elevated levels of total cholesterol and low-density lipoprotein cholesterol were significantly more common in children with homozygous FH.

Conclusion: This study revealed a significant correlation between genotype and phenotype in Egyptian children with FH, with homozygous individuals experiencing more severe clinical symptoms. These findings underscore the importance of genetic screening in assessing disease severity and tailoring treatment strategies.

This open-label parallel randomized control trial compared the need for invasive ventilation and continuous positive airway pressure (CPAP) duration in preterm infants receiving CPAP with or without kangaroo mother care (KMC). Preterm neonates from 28 to 36 weeks 6 days with a Downe's score ≥4 to 6 were eligible for CPAP and were recruited at Shree Krishna Hospital, Gujarat. Using balanced randomization, 111 participants were randomly assigned to two groups. KMC was initiated within one hour of CPAP versus in non-KMC group, neonates were placed under servo-controlled warmer with CPAP. The mean [standard deviation (SD) birth weights (1876.91 [456.51] vs. 1909.98 [387.46] grams] and gestational ages [32.5 (2.6) vs. 32.3 (2.8) weeks] were comparable between groups. The mean (SD) KMC hours in the intervention group before weaning from CPAP were 9.57 (7.72) hours. The success rate (without the requirement for invasive mechanical ventilation) was higher in the intervention group (92.6% vs. 75.4%, P = 0.01). Among neonates who were successfully weaned off ventilation, the mean (SD) CPAP hours were lower in the intervention group [23.19 (20.33) vs. 37.66 (24.40), P = 0.003]. The mean (SD) FIO2 [38.37 (13.36) vs. 44.88 (15.73), P = 0.02] and positive end expiratory pressure (PEEP) [6.30 (0.66) vs. 6.72 (0.70), P = 0.01] requirements were lower in the KMC intervention group, the thermoregulation was better, and there was earlier establishment of feeds. Provision of KMC in preterm newborns requiring CPAP at birth leads to reduced duration of CPAP support and CPAP failure.

Clinical trial registration: CTRI/2014/12/005309 [Registered on: 17/12/2014].

Invasive fungal infections, particularly those caused by Trichosporon species, have increasingly been observed in recent years, leading to high morbidity and mortality rates in immunosuppressed patients. Trichosporon asahii is the most common species associated with systemic infections. Despite their clinical importance, especially in pediatric patients, information remains limited. This study aims to investigate the clinical characteristics, comorbidities, treatment methods, and outcomes of invasive Trichosporon infections diagnosed over 10 years at a university hospital. The medical records of patients diagnosed with invasive Trichosporon infections between December 2013 and January 2024 at our center were retrospectively reviewed. A total of 12 cases of invasive Trichosporon infection were examined during the study period. In 75% of these cases, the isolated species was T. asahii. Underlying comorbidities were present in 33.3% of the patients, with hematologic malignancies in 33.3% and immunodeficiency in 33.3%. Among the treatment strategies, 12.5% of the patients received voriconazole monotherapy, and 37.5% received a combination of voriconazole and antifungal therapy, with the most common combination being voriconazole and liposomal L-AmB. The overall mortality rate was 41.7%, with 7-day mortality at 8.3% and 30-day mortality at 25%. Invasive Trichosporon infections are serious infections with a high mortality risk in immunocompromised patients. Early diagnosis, timely initiation of appropriate antifungal therapy, and management of underlying comorbidities are critical for improving patient outcomes. Due to the limited number of cases, further research in this field is needed.