Lady Ridgeway Hospital for Children

Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this association more recently being confirmed in a larger study. Here, we further establish the pathogenic role of RDH11 by presenting a large multi-center cohort, comprising eight individuals from seven unrelated families. Comprehensive genetic analysis identified homozygous variants in all affected subjects, including two novel variants, strongly supporting loss-of-function as the primary disease mechanism. Detailed clinical phenotyping defined a consistent and severe multisystem disorder. Ophthalmologically, the hallmark features include bilateral congenital or early-childhood cataracts requiring surgical intervention, accompanied by retinitis pigmentosa (RP). In terms of extra-ocular involvement, the cohort exhibited a high prevalence of neurodevelopmental delay, including intellectual disability, autistic spectrum disorder and learning difficulties. These features were frequently accompanied by congenital microcephaly, intrauterine and postnatal growth restriction, facial dysmorphisms, and dental anomalies. By significantly expanding both the mutational and phenotypic spectrum of RDH11-related disease, our findings provide independent replication of this gene-disease association and definitively support RDH11 as a bona fide syndromic RP gene.

Abstract Sri Lanka’s digital health ecosystem is characterized by multiple heterogeneous Electronic Medical Record (EMR) systems operating in silos, limiting continuity of care. While HL7 FHIR-based data exchange with the National Electronic Health Record (NEHR) is being utilized to achieve syntactic interoperability, semantic interoperability remains constrained due to use of non-standardized clinical terminologies across EMRs. This case study describes the experience of leveraging a terminology service to standardize locally used clinical data and enable semantic interoperability in a low-resource setting. An OpenHIE-aligned architecture was implemented using Open Concept Lab (OCL) online as the terminology service, Open Health Information Mediator (OpenHIM) as the interoperability layer and HapiFHIR as a health data store. Locally defined value-sets for presenting complaints, diagnoses, medications, procedures, and investigations were extracted from multiple national EMRs, consolidated, and mapped to well recognized international terminology standards including SNOMED-GPS and LOINC through a multi-stakeholder process. The implementation resulted in creation of four terminology sources, 17 collections, 3,169 concepts, and 1,247 mappings, validated through national Connectathons. A mapping mediator was used for the transformation of local or free-text inputs into coded terminology prior to persistence in the NEHR, ensuring semantic consistency while preserving original data. The findings demonstrate that terminology mapping using open-source, OpenHIE-aligned technologies is a feasible approach for enabling semantic interoperability in low-resource settings. However, long-term sustainability requires adoption of standardized terminologies at the point of data capture, strengthened governance mechanisms, and continued capacity building.

Abstract Background Cardiac arrhythmia is one of the major global health burdens being responsible for leading to stroke and heart failure. Managing this high risk disease at an earlier level remained a point of concern for clinicians and researchers [1, 2]. Purpose Our study is focused in identifying such endogenous transcription regulatory microRNAs (miRNAs) that possess the potential to target earlier molecular risks of the arrhythmia including hypertension and renal burden. Methods Hub genes prediction of microRNAs and their potential target genes from the microarray data sets, microRNAs targets prediction on 8mer seed sequences matching bases from miRBAse, and targetscan, Genes functional enrichment analysis, PPI network development, cohort validation of miRNAs and their respective target genes in hub modular form. Results Screening from overlapped expression of arrhythmia causative genes including sinoatrial response regulators, cardiac cells membrane polarity regulators, axis of cardio-nervous regulators and hypertension regulators elucidated the role of set of modulatory endogenous gene silencing microRNAs. Micro RNA 101-3p and microRNA 23-3p with significant risk nexus genes management including ZFH X3, HCN4, KCN3, ADR B1, SOX 6, MED and HSP 9 etc involving management of beta adrenergic receptors activity, sodium importer activity, BMP receptor activity, postsynaptic membrane potential regulators, cation channels and transporters regulation, and dopamine sodium transporter etc. Conclusion These microRNAs with potential of simultaneous regulation of major arrhythmia risks associated genes at the basal molecular level propose their future significance in therapeutic and advanced diagnostic modeling.

Background: Early childhood developmental screening plays a critical role in preventive health care. Sri Lanka has a formal national programme for developmental surveillance using the Child Health Development Record (CHDR), conducted by Primary Health Care (PHC) workers. This audit evaluated the compliance of developmental screening documentation with the national guideline (General Circular 01-12-2020).Methods: A retrospective clinical audit was conducted on 100 CHDRs from the Western Province, representing children from birth to 10 years. Completeness of developmental milestone documentation by mothers and PHC workers (Public Health Midwives/Medical Officers of Health) at ten scheduled ages (2-60 months) was assessed against the national standard. Referral documentation for identified developmental concerns was also evaluated.Results: Overall completeness of developmental milestone documentation was suboptimal, being 67.6% by mothers and 51.8% by PHC workers, with large geographical variation. A marked decline in completeness was shown with increasing age of children from 82.0% at 2 months to 30.0% by age 5 years. Nearly half (45%) of PHC worker records showed less than 50% completeness. Importantly, out of the four children having developmental problems, referral was documented for only two (50%), indicating breakdown of the referral pathway in half of the at-risk cases.Conclusion: This audit demonstrates a major implementation gap in the developmental screening programme in Sri Lanka, characterised by declining surveillance beyond infancy, and high degree of incomplete documentation, resulting in missed referrals. It indicates an urgent need for focused quality improvement of PHC worker training, improved supervisory services and systemic reforms to ensure detection and intervention for children with developmental delay.

Background and objective Sports participation among children has increased globally, resulting in a rising burden of sports-related injuries and medical complaints. However, published Sri Lankan data on paediatric sports-related complaints remain limited. This study aimed to describe the pattern of sports-related complaints among children attending the Sports and Exercise Medicine Unit at a selected hospital in the Colombo District, Sri Lanka. Methods A hospital-based cross-sectional descriptive study was conducted using secondary data extracted from clinic records of children who attended the Sports and Exercise Medicine Unit from January 2013 to December 2019. A total of 592 children were included. Data were analysed using SPSS version 24. Descriptive statistics were used to summarise the data, and associations between selected sports and anatomical sites of pain were assessed using Chi-square tests. Results The majority of children were aged 10–15 years (71.5%), and 62.2% were males. The knee was the most frequently affected anatomical site (17.8%), followed by the back (12.6%), foot (10.0%) and thigh (9.3%). Athletics (27.7%) and swimming (22.6%) were the most commonly reported sports. Athletics participation showed a strong association with thigh pain (22.8% vs 4.1%; p < 0.001). Swimming was significantly associated with foot pain (15.4% vs 8.4%; p = 0.019). Rugby participation was significantly associated with back pain (20.0% vs 11.6%; p = 0.046). No significant associations were observed for cricket. Conclusions Distinct sport-specific patterns of anatomical site involvement were observed. These findings highlight the need for targeted injury-prevention strategies in Sri Lanka.