Lady Ridgeway Hospital for Children

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.

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.

The diagnosis of sudden cardiac arrest (SCA) in children has very specific diagnostic issues, because the underlying causes usually vary with those in adults and are often preceded by respiratory struggles or circulatory shock. Correct and prompt shockable cardiac rhythm detection is highly critical to effective defibrillation and survival but manual electrocardiogram (ECG) interpretation during emergencies is most likely to be delayed and inaccurate. This paper explores this field with a view to investigating the effectiveness of lightweight machine learning (ML) models to detect shockable rhythms in real-time using wearable ECG sensor-collected data, and how to balance the predictive accuracy and computational efficiency of such models to enable their use in resource-constrained environments. Synthetic paediatric ECG signal dataset was pre-processed using filter and normalization, time and frequency-based feature extraction. Six machine learning models were evaluated (Logistic Regression, Support Vector Machine, Random Forest, Gradient Boosting, and k-Nearest Neighbors, as well as Naive Bayes and Shallow Decision Tree). Performance measures were accuracy, precision, recall, and F1-score. The findings proved that SVM, Random Forest and Gradient Boosting had the highest accuracy, precision, recall, and F1-score (100

Abstract Hydrothorax is an uncommon initial first presentation of ovarian cancer. We describe a case of malignant tension hydrothorax that led to the diagnosis of stage IVA high-grade serous ovarian carcinoma.A 74-year-old woman with hypertension and poorly controlled diabetes presented with acute dyspnea, pleuritic chest pain, and hypoxemia. Chest radiograph revealed complete opacification of the right hemithorax with mediastinal shift to the left, suggesting a large pleural effusion. Emergent chest-tube decompression produced immediate clinical improvement. Computed tomography of the chest showed dense right-lung consolidation and a large pleural effusion; incidentally, a > 12 cm complex pelvic mass was identified. Pleural-fluid cytology was positive for malignant cells.Subsequent MRI of the abdomen and pelvis confirmed a cystic ovarian mass with solid components. The patient underwent exploratory laparotomy with primary debulking; frozen and final pathology revealed high-grade serous carcinoma involving the ovary and fallopian tube with peritoneal implants, consistent with FIGO stage IVA disease. Her course was complicated by persistent pleural drainage requiring a tunneled pleural catheter. Gynecologic oncology initiated systemic chemotherapy with carboplatin, paclitaxel, and bevacizumab.Malignant pleural effusion is a recognized manifestation of ovarian cancer, but malignant tension hydrothorax secondary to ovarian cancer is exceedingly rare. The mechanism may involve pleural metastases or diaphragmatic lymphatic obstruction. This case emphasizes the importance of considering gynecologic malignancy in elderly women with unexplained pleural effusions and highlights the need for early multidisciplinary collaboration between pulmonary, and gynecologic-oncology teams. A. Chest radiograph showing complete opacification of the right hemithorax consistent with large effusion and mediastinal shift. B. Coronal CT abdomen and pelvis demonstrating a complex cystic pelvic mass consistent with ovarian carcinoma. This abstract is funded by: None

Developmental epileptic encephalopathy (DEE) is a severe neurodevelopmental disorder characterized by developmental delay, regression, and intractable seizures. Genetic testing plays a crucial role in identifying underlying pathogenic variants, guiding treatment, and improving patient outcomes, particularly in resource-limited settings. A one-and-a-half-year-old Sri Lankan boy was assessed due to global developmental regression. He exhibited motor delays, with developmental milestones around 9–12 months, including the ability to form a pincer grasp and stand with support. He showed regression in speech and swallowing. By 15 months, he could speak single words, which had reduced to monosyllable babbling by the time of presentation. He was born to healthy, non-consanguineous parents and had a healthy sibling. He had an uncomplicated antenatal and perinatal history and had no history of seizures. His paternal uncle also had developmental delay and epilepsy. He was found to have electrical status epilepticus in sleep (ESES) in the electroencephalogram (EEG) recording, and genetic testing revealed a CACNA1E loss-of-function mutation. He had a variable response to antiseizure medications, with a good response to acetazolamide and significant functional deterioration with topiramate. He also responded to treatment for ESES. Pathogenic variants of CACNA1E, particularly those causing either gain-of-function or loss-of-function effects, are linked to severe neurodevelopmental disorders. Clinically, CACNA1E mutations often present in early childhood with severe neurodevelopmental impairment, global developmental delay, autistic features, feeding difficulties, and self-injurious behaviors. The molecular mechanisms can explain the deterioration with topiramate and the improvement with acetazolamide, as the mutation causes a loss of function of the CACNA1E gene, which is potentially exacerbated by the blocking of the same channel by topiramate and improved by acetazolamide. This case exemplified the use of genetic diagnosis for precision treatment. It highlighted the need to look for modifiable conditions such as epileptic encephalopathy in children with developmental delay and regression, even in the absence of seizures. The CACNA1E mutation, EEG finding of ESES, and the responses to targeted treatment add to the literature of this rare disorder.