Asian Journal of Pediatric Research

Surgical Repair of Congenital Bicuspid Aortic Valve, VSD, and PDA in a 9-Year-Old Child: A Case Report

2026-08-19T12:28:33+00:00

Background: The BAV–VSD–PDA complex, presenting with severe symptomatic AR and severe LVD in a paediatric patient younger than 10 years, is a very uncommon complex congenital structural heart defect.

Aim: This report aims to highlight surgical management strategies and a successful single-stage management approach.

Presentation of Case: A 9-year-9-month-old girl (15 kg; BMI 11.0 kg/m 2) presented with dyspnoea on exertion and fatigue. Echocardiography showed BAV with severe eccentric AR, a moderate perimembranous VSD (Lt-to-Rt shunt), a tiny PDA (Lt-to-Rt shunt), left-heart dilatation, and grade I LV systolic dysfunction (LVEF: 53%). Single-stage open-heart surgery was performed on cardiopulmonary bypass, including VSD closure with a Dacron patch, PDA ligation, and AVR with a 19 mm TTK Chitra mechanical tilting-disc valve. Recovery was smooth, with an uneventful postoperative period. Echocardiography confirmed IVS patch integrity and normal prosthetic valve function at follow-up (mean gradient: 9 mmHg), with no residual shunt.

Discussion and Conclusion: In this case, single-stage repair combining VSD closure, PDA ligation, and mechanical AVR with a TTK Chitra valve was associated with a satisfactory mid-term outcome for complex paediatric BAV with AR. Careful maintenance of anticoagulation and an appropriate multidisciplinary approach to long-term follow-up are of paramount importance.

Frequency of Preterm Neonates Admitted to the Neonatal Intensive Care Unit at Lima Regional Hospital, Guyana, from January to June 2026: A Retrospective Cross-sectional Study

2026-08-14T10:56:36+00:00

Background: Preterm neonates are vulnerable to respiratory, infectious, metabolic, gastrointestinal, neurological and cardiovascular complications, and local data are needed to guide neonatal service planning.

Objective: To determine the frequency and describe the clinical characteristics of preterm neonates admitted to the neonatal intensive care unit at Lima Regional Hospital, Guyana, from January to June 2026.

Methods: This retrospective cross-sectional descriptive study reviewed delivery and neonatal records from 1 January to 30 June 2026. Variables included live births, neonatal intensive care unit admissions, gestational age, birth weight, sex, mode of delivery, maternal risk factors, neonatal complications and survival. Categorical data were summarised using frequencies and percentages.

Results: Among 403 live births, 82 neonates were admitted to the neonatal intensive care unit (20.3%); 35 were preterm, representing 8.7% of live births and 42.7% of admissions. Of the preterm neonates, 9 (25.7%) were 28–32 weeks, 11 (31.4%) were 32–34 weeks and 15 (42.9%) were 34–37 weeks. Twenty-seven (77.1%) weighed 1,500–2,500 g. Maternal infection-related factors and hypertension were frequently documented. Jaundice (62.9%), respiratory distress syndrome (42.9%) and necrotising enterocolitis (31.4%) were the leading complications. All 35 neonates survived the recorded hospitalisation period.

Conclusion: Preterm neonates constituted a substantial proportion of admissions. The findings provide a hospital-based baseline, although the complete survival observed should be interpreted cautiously because of the small sample and six-month study period.

Paediatric Surgical Services in a New Private Tertiary Health Facility in South West Nigeria: Early Experiences and Preliminary Outcomes

2026-08-17T09:11:35+00:00

Background: About a third of the global burden of disease is estimated to be surgical. Surgical conditions are common in the paediatric age group, making paediatric surgical care an important component of global health. The study aimed to describe the spectrum of paediatric surgical conditions presenting to a new tertiary healthcare facility, as well as the nature of the procedures performed and their outcomes.

Materials and Methods: This was a retrospective, descriptive, hospital-based, single-centre study involving a review of all paediatric surgical cases managed over an 18-month period at a new private tertiary healthcare facility in South West Nigeria. Data on patients’ demographics, indications for surgical intervention, procedures performed, and outcomes were extracted from electronic medical records and analysed using descriptive statistics.

Results: A total of 68 patients underwent 68 surgical procedures during the study period. The majority were male (58/68; 85.3%), giving a male-to-female ratio (M:F) of 5.8:1.0. Intact prepuce requiring circumcision accounted for the highest number of cases (28/68; 41.2%), followed by obstructive adenoidal disease (7/68; 10.3%), hernia (3/68; 4.4%), and ankyloglossia (3/68; 4.4%). Most procedures (59/68; 86.8%) were elective, while 37 (54.4%) were minor procedures performed as day cases. One post-operative death was recorded, giving an overall survival rate of 98.5%.

Conclusion: This small, single-centre study provides an overview of the spectrum of paediatric surgical presentations and procedures encountered during the early experience of a new private tertiary healthcare facility in South West Nigeria. The findings suggest that a range of paediatric surgical conditions can be managed with favourable outcomes when appropriately identified and promptly treated. The small sample size and single-centre retrospective design limit the generalisability of the findings. Larger, multicentre studies would provide a more comprehensive understanding of paediatric surgical patterns and outcomes in the region.

Accelerometer-Measured Physical Activity among Children with and Without Disabilities: Evidence from the UK Millennium Cohort Study

2026-08-22T07:23:20+00:00

Aims: This study aimed to compare accelerometer-measured physical activity and sedentary time between children with and without disabilities and to examine socio-ecological correlates stratified by disability status.

Study Design: A cross-sectional secondary analysis of a population-based cohort study.

Place and Duration of Study: Data were drawn from Sweep 4 of the UK Millennium Cohort Study, conducted between May 2008 and August 2009, when cohort members were approximately 7 years old.

Methodology: The analytic sample included 6,552 children, including 311 children with disabilities and 6,241 children without disabilities. Moderate-to-vigorous physical activity (MVPA), daily steps, and sedentary time were derived from accelerometer data. Linear regression models compared physical activity outcomes between groups, and stratified multivariable regression models examined socio-ecological correlates by disability status.

Results: Children with disabilities accumulated less MVPA (approximately 4 min/day) and fewer daily steps (approximately 380 steps/day) than children without disabilities, while sedentary time did not differ significantly. Fewer than half of children in either group met the World Health Organization-recommended 60 min/day MVPA guideline. Boys accumulated more MVPA across both groups. Among children with disabilities, school physical education difficulties were strongly associated with lower MVPA and fewer daily steps. Among children without disabilities, additional correlates included weight status and Strengths and Difficulties Questionnaire total score.

Conclusion: Physical activity levels were insufficient among children with and without disabilities at age seven, with modest but significant disparities in MVPA and steps. Inclusive school physical education may represent an important context for supporting physical activity participation among children with disabilities. The findings highlight the need for early, school-based, and inclusive physical activity promotion.

Severe Epilepsy Syndromes in Childhood: A Comprehensive Review of Clinical Features, Etiologies, and Advancing Therapeutic Landscapes

2026-08-11T07:36:02+00:00

Severe childhood epilepsy syndromes, encompassing the developmental and epileptic encephalopathies together with related drug-resistant electroclinical constellations, remain among the most challenging conditions in paediatric neurology. They combine frequent, treatment-resistant seizures with developmental impairment, substantial comorbidity, and elevated premature mortality. The past two decades have transformed the field: a revised syndrome classification, an expanding catalogue of monogenic causes, and a succession of syndrome-specific and mechanism-based therapies have altered both diagnosis and management. This critical narrative review synthesises evidence on the clinical features, aetiologies, and therapeutic options for these syndromes, and evaluates the strength, consistency, and limitations of that evidence rather than cataloguing individual studies. Literature was selected from bibliographic searching, citation chaining, and appraisal of consensus statements and clinical guidelines, with every cited reference and its digital object identifier independently verified. Several themes emerge. Aetiological diagnosis, particularly through broad genetic testing, now carries direct management consequences, yet a diagnostic gap persists and genotype does not map cleanly onto phenotype or treatment response. Syndrome-specific pharmacotherapy is supported by robust randomised evidence for a small number of agents in Dravet syndrome, Lennox-Gastaut syndrome, and CDKL5 deficiency disorder, but head-to-head comparisons, long-term developmental outcomes, and effects on the encephalopathy itself remain poorly characterised. Mechanism-based and disease-modifying strategies, including mammalian target of rapamycin inhibition, pre-emptive treatment, and antisense oligonucleotides, represent a conceptual shift from seizure suppression toward disease modification, though the durability and developmental impact of these approaches are not yet established. Sudden unexpected death in epilepsy and other causes of early mortality remain insufficiently mitigated. The available evidence supports cautious optimism: outcomes are improving, but confidence in many conclusions is constrained by small samples, heterogeneous endpoints, short follow-up, and reliance on seizure count as the dominant outcome. Priorities include earlier aetiological diagnosis, developmentally meaningful outcome measures, and trials designed to test disease modification rather than seizure frequency alone.

Early Prenatal Detection of Fetal Genetic Mutations and Epigenetic Alterations: A Critical Appraisal of Liquid Biopsy Methodologies and Paediatric Implications

2026-08-13T07:43:44+00:00

Circulating fetoplacental nucleic acids have transformed prenatal medicine within a single generation, and screening based on cell-free DNA (cfDNA) is now offered routinely in many health systems. The field is moving quickly from the detection of whole-chromosome aneuploidy towards earlier sampling, sub-chromosomal resolution, monogenic diagnosis and the interrogation of epigenetic marks, yet the evidence supporting these extensions is uneven and the downstream consequences for children are rarely examined. This critical narrative review evaluates the state of knowledge on early prenatal detection of fetal genetic variants and epigenetic alterations through maternal blood sampling, and appraises the paediatric implications of an expanding prenatal detection frontier. Literature was identified through structured searching of Europe PMC and MEDLINE, Crossref Metadata Search, OpenAlex, Semantic Scholar and targeted retrieval of professional society statements, supplemented by backward and forward citation tracking. Evidence was appraised for design adequacy, confirmatory testing, spectrum of enrolled participants, and separation of analytical from clinical validity. Three findings dominate the synthesis. First, diagnostic confidence declines sharply and predictably as the target moves from common autosomal trisomies to rare autosomal trisomies, copy number variants and single-gene conditions, and this gradient is driven more by target prevalence and by placental biology than by sequencing chemistry. Second, DNA methylation currently functions far more securely as an analytical instrument, supporting fractional quantification and tissue-of-origin deconvolution, than as a validated diagnostic target for fetal disease, and the developmental literature that motivates epigenetic prediction rests overwhelmingly on postnatal tissues rather than on prenatal plasma. Third, paediatric evidence is the weakest link in the chain: prenatal detection demonstrably alters the ascertainment and the age distribution of childhood diagnoses, but longitudinal outcome data for prenatally ascertained children remain scarce. Priorities include phenotype-linked birth cohorts of prenatally screened pregnancies, prospective validation of methylation-based classifiers against paediatric endpoints, and evaluation frameworks that treat placental discordance as clinical information rather than analytical noise.

From a Recurrent FGFR3 Variant to Isoform-Selective Kinase Inhibition: A Critical Appraisal of Targeted Therapy in Paediatric Achondroplasia

2026-08-22T05:00:52+00:00

Achondroplasia arises almost invariably from a single recurrent gain-of-function variant in the gene encoding fibroblast growth factor receptor 3, and has therefore become a reference case for genotype-directed drug development in paediatric rare disease. Within five years the field has moved from a single approved subcutaneous peptide analogue to a competitive landscape containing long-acting prodrugs of C-type natriuretic peptide, an orally administered pan-fibroblast growth factor receptor 1 to 3 tyrosine kinase inhibitor with pivotal placebo-controlled data, and receptor-selective inhibitors designed to spare the remaining receptor isoforms. This critical narrative review examines whether the evidence supporting these strategies has advanced at the same pace as the pharmacology. Literature was identified through structured searching of bibliographic and scholarly indexes, trial registries and institutional sources, complemented by citation tracking, and appraised for design adequacy, endpoint validity, consistency and translational reach rather than catalogued study by study. Three interpretive conclusions emerge. First, the mechanistic case for receptor-level inhibition is strong, yet the clinical case for isoform selectivity remains an inference from adult oncology dosing rather than a demonstrated paediatric advantage, because the doses used in skeletal dysplasia are far below those at which class toxicity is observed. Second, the apparent superiority of any single agent rests on indirect comparison across trials that differ in age range, baseline growth, imputation strategy and duration, and the differences in reported effect on annualised growth velocity are small relative to these design differences. Third, the endpoint on which the entire field depends is a one-year surrogate, and effects on body proportionality, foramen magnum development, functional capacity and adult stature remain inconsistent, exploratory or unmeasured. Selective inhibitors such as dabogratinib, and the oncology-developed compound vepugratinib, are best understood at present as pharmacological demonstrations that isoform-restricted inhibition is achievable, not as therapies of established paediatric benefit. Priorities include head-to-head or platform designs, growth-plate-relevant pharmacodynamic biomarkers, prospective imaging of the craniocervical junction, and outcome sets defined with affected families.

Hookworm Infection and Childhood Growth: A Critical Narrative Review of Body Mass Index, Height Standard Deviation Scores, Growth Velocity and the Insulin-like Growth Factor 1 Axis in Normal-weight and Underweight Children

2026-08-22T10:20:00+00:00

Hookworm infection remains one of the most common chronic parasitic conditions of childhood in low-resource settings, and growth impairment is routinely listed among its consequences. The evidence supporting that claim is weaker and more heterogeneous than programmatic language implies. This critical narrative review evaluates what is established, contested and unknown about the relationship between hookworm infection and four related growth constructs in children: body mass index (BMI), the BMI standard deviation score (BMI-SDS), the height standard deviation score (height-SDS) and height growth velocity, together with the insulin-like growth factor 1 (IGF-1) system that plausibly links infection to linear growth. Particular attention is given to whether these relationships differ between children who are of normal weight and those who are underweight, a stratification that carries direct implications for targeted rather than universal preventive chemotherapy. Literature was identified through structured searching of scholarly databases and indexes, supplemented by backward and forward citation searching and by examination of institutional sources, and appraised for design adequacy, exposure measurement, confounding control and analytical transparency. Three findings dominate the synthesis. First, the anthropometric evidence is overwhelmingly cross-sectional, aggregates hookworm with other soil-transmitted helminths, and rarely reports species-specific or intensity-stratified estimates, so that the apparent inconsistency between studies is substantially attributable to exposure misclassification and heterogeneous outcome definitions rather than to genuine biological divergence. Second, ponderal and linear outcomes behave differently: anthelmintic treatment trials more often show weight or BMI responses than height responses, which is consistent with the short observation windows typical of such trials but does not exclude a slower linear effect. Third, direct paediatric evidence connecting hookworm infection to the IGF-1 system is almost absent; the most informative controlled data derive from adults, and the strongest paediatric mechanistic analogue concerns Trichuris trichiura rather than hookworm. Effect modification by baseline nutritional status is biologically plausible and programmatically important, yet no adequately powered study has tested it directly with prespecified strata. Priorities include species-specific longitudinal cohorts with quantitative molecular diagnostics, IGF-1 measurement interpreted against age- and sex-specific references and adjusted for inflammation, and treatment trials with prespecified nutritional-status strata and observation periods long enough to detect linear growth responses.