Epigenetics is the study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence. It is a change in phenotype without changing in genotype which in turn affects how cellsread the genes. The epigenetic change is a regular occurrence but can also be influenced by several factors including age, environment, lifestyle, and disease state. It may have damaging effects that result in diseases like cancer. At least three systems including DNA methylation, histone modification and RNA-associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of diseases including in childhood solid cancer such as Ewing sarcoma, neuroblastoma, Wilms tumours, brain tumours and rhabdomyosarcoma. A better understanding of epigenetic changes in childhood cancers can guide towards future therapy and diagnosis.
Cellulitis in human following leech bite is rae, many of the case reports were associated with the use of medical leech. We report the first documented case of cellulitis following the bite of land leech (Haemodipsa species), known locally as 'pacat', in a 2 month-old-baby. The baby developed fever but subsided following an antibiotic cover. The baby had uneventful stay in the hospital and the cellulitis was successfully treated following a week cource of Cloxacillin.
Primary cardiac tumours (PCT) are rare in the paediatric population. They can present in a variety of ways – from being asymptomatic, obstructive with heart failure, strokes, arrhythmias or sudden death. We present a 2-month-old child who was admitted because of heart failure from varying types of arrhythmias and was found on echocardiography to have a large left ventricular tumour. A high clinical suspicion in any infant or child who presents with an unexplained heart murmur, arrhythmias or congestive heart failure should prompt relevant investigations ruling out this entity.
Thalassaemia is a life-long illness that exists globally. The quality of life of adolescents with thalassaemia could differ based on the health policies of a specific region, existing levelof socio-economic development and the illness related variables. This study examines the relationship between socio-demographic and disease-related variables with the quality of life among adolescents with thalassaemia involving multiple treatment centers spread throughout various locations in Malaysia. Participants included 218 adolescents (male=108; female 112) with mean age of 13.86 (SD=2.40). They completed the questionnaire consisting of demographic information, illness-related variables, and Pediatric Quality of Life Inventory 4.0 (PedsQL). The participants in this study was found to have higher total summary score (Mean = 69.64, SD = 14.03), psychosocial health (Mean = 70.23, SD = 14.91), emotional (Mean = 72.12, SD = 20.66), social (Mean = 79.82, SD = 17.37), and school (Mean = 58.69, SD = 16.77) functioning but with lower physical health (Mean = 68.50, SD = 17.22) as compared to previous study that was done in Kuala Lumpur. Findings also shows a significant positive correlation between level of education and frequency of hospitalization (r = .156, p < 0.05), frequency of transfusion (r = .152, p < 0.05), and physical health (r = .186, p < 0.01). An increase in the frequency of transfusion was found to significantly increase social functioning (r = .137, p < 0.05). Other significant correlations are discussed in addition to the quality of life experienced by patients with thalassaemia in different region of theworld.
Objective: The present study examined the sensitivity and specificity of M-CHAT-Malay version [M-CHAT(MV)] to discriminate ASD from other developmental-behavioural disorders. Methods: This study was carried out in the Child Development Centre at a tertiary referral centre. Parents of 130 children aged 18–60 months, referred for developmental-behavioural disorders were asked to complete M-CHAT(MV). A child was considered to have ASD ifthey failed any 3 of the 23 total items or 2 or more of the 6 critical items. Results: Looking at the total items, M-CHAT(MV) has a good sensitivity (88.9%) to differentiate between ASD and other developmental-behavioural disorders, although specificity was only 47.8%. However, the critical items only has sensitivity of 71.4% and specificity of 77.6%. Sensitivity for children aged 49–60 months old was lower (80.0%) compared to those in the younger age group (100.0% and 90.3% for those aged 25-36 months and 37–48 months respectively). Based on the ROC curve, the optimal criteria to detect ASD was failing 1 out of 6 critical items or 3 out of 23 total items. Conclusion: M-CHAT(MV) is a good screening tool in differentiating ASD from other developmental-behavioural disorders although the critical items’ criteria may need to be lowered to improve its sensitivity in selected cohorts.
Background:Recent retrospective studies suggest irrelevance of urine screening for neonate with prolonged jaundice. We re-evaluated the incidence of urinary tract infection (UTI) among these infants, their renal outcome and evaluated the cost incurred. Methods: This is a prospective cohort study. Asymptomatic, prolonged jaundiced infants with unconjugated hyperbilirubinemia were screened for evidence of UTI as per local guidelines. Infants with pyuria would have urine sent for culture and sensitivity. Unit cost was referenced from hospital purchase. Statistical analysis was performed using SPSS 24.0. Results:A total of 291 cases were analyzed. Majority were term infants (93.8%). The commonest cause of prolonged jaundice was breast milk jaundice, hence an incidence rate of 0.34%. Only one infant persistently showed single uropathogen on urinary culture with concurrent pyuria. Urinary structures were normal on ultrasonography and there was no evidence of renal cortical scarring. No recurrence of UTI documented in the first year of life. Each “clean-catch” urinalysis costed RM7. This unit cost escalated to RM37 for catheterized sample. A negative urine culture costed RM28 while a positive culture twice this price. The average cost effectiveness ratio (ACER) in this study was RM5856.56 per detection of case. Conclusion: Incidence of UTI is low. In our study, an undesirable outcome is negligible. Unnecessary parental anxiety from the potentially laborious procedure could be avoided. This study refutes previous literature to include such screening in prolonged jaundice as this may well be irrelevant.
Objectives: This study aimed to estimate the proportion of tuberculosis patients among children and adolescents, to describe the socio-demography and clinical factors for tuberculosis infection among children and adolescents in Kelantan from 2012 until 2015. Methods: This study was a retrospective cross-sectional study between tuberculosis and non-tuberculosis cases among children and adolescents using Tuberculosis Information System as a source population. All notified cases that fulfilled the inclusion and exclusion criteria were included in the study. Descriptive statistics, simple and multiple logistic regressions were used for data analysis. Results: Out of 5412 tuberculosis cases, 8.4% were children and adolescents group with mean age of 15. Among 322 children and adolescents with tuberculosis, majority of them were Malay (91.2%), 7.5% illiterate and 79.6% resided in non-urban area. By clinical factors, 2.8% were Human Immunodeficiency Virus (HIV) positive and 14.6% were cigarettes smokers. Older age, cigarettes smoking, female gender, Malay ethnicity, good education level and non-urban residence were the significant associated factors for tuberculosis infection among children and adolescents with AOR 1.41 (95%CI: 1.29,1.54; p
Congenital pneumonia is one of the common causes of respiratory distress at birth with significant morbidity and mortality in infants. Estimates show that neonatal pneumonia including congenital pneumonia contributes to between 750 000 and 1.2 million neonatal deaths every year which accounts for 10% global child mortality. Etiological agents are many and vary but atypical bacterial causes are few. The commonest cause for atypical bacteria is Ureaplasma urealyticum. Congenital pneumonia is often clinically difficult to diagnose owing to poor specificity of clinical signs, with similarities in radiologic presentation with other respiratory conditions of the newborn. Isolation of causative organism (s) by culture from nasopharyngeal aspirates or tracheal aspirates obtained within 8 hours of life is the gold standard of its diagnosis. However, this technique is elaborate and time consuming in identifying atypical bacteria. Development of a more sensitive modality such as polymerase chain reaction (PCR) has dramatically altered the microbiological diagnosis of congenital pneumonia.
Introduction: School refusal is a common cause of chronically poor school attendance. The basis of school refusal behaviour can be grouped into the symptomatic and functional models, the operant conditioning model and the cognitive model. Objective: This paper is aimed to discuss the various systems and models which explain the school refusal behaviour. Method: An initial search of published literature in English Language was performed on the online databases including Google Scholar, Science Direct, EBSCOhost, and Proquest with the main keywords were School Refusal and Self–efficacy. Further sources were identified after consulting the original author for recommendations, and references within the literature retrieved in the initial search. Results: Out of 57 articles found, 41 were used in this review. Development and maintenance of school refusal involve heterogeneous risk factors and processes. The existing theoretical basis of school refusal behaviour can be grouped into symptomatic models, the operant conditioning model and the cognitive model. Conclusion: School refusal depicts a symptom, heralding the need for early intervention before development of a more pervasive mental health disorder. Where the problem had persisted for months to years, the child or adolescent would commonly present with coexisting anxiety or depressive disorders.
Background: The low yield and quality of buccal-derived genomic DNA have reduced its applicability in various genetic research. The aim of this study was to assess the quantity, purity and genotyping efficiency of genomic DNA isolated from neonatal buccal swabs. Methods: Paired buccal swabs and whole blood samples were collected from 60 neonates with the mean age 5 days (SD=1.57). The genomic DNA quantity and purity were measured by using Infinite® 200 PRO NanoQuant reader and agarose gel electrophoresis. High-resolution melting (HRM) analysis was used to analyse the sequence variants present in uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1 c.211G>A) and nuclear receptor subfamily 1, group I, member 3 (NR1I3 IVS8+116T>G) genes. Results: Buccal swabs provided lower mean genomic DNA concentration (18.78 ± 8.39 ng/μl versus 40.02 ± 13.03 ng/μl), yield (2.63 ± 1.17 μgversus8.00 ± 2.61 μg). The purity of buccal samples however were inconsistent with 16 samples (26.7%) having A260/280 ratios below 1.8 which indicated protein contamination. Genomic DNA purity for all blood samples were within the ideal range with average absorbance ratios of 1.8−2.0. However, all buccal genomic DNA demonstrated 100% genotype call rates for all variants. A complete genotype concordance was also observed between paired genomic DNA samples. Conclusion: Despite related to a reduced quantity and purity, neonatal buccal genomic DNA could generate reliable HRM genotyping results. Therefore, buccal swab collection is a promising alternative to the invasive blood sampling to provide genomic DNA for genetic analysis involving paediatric population.
Introduction: Training of all health personnel involved in paediatric care is a key determinant of successful outcome during paediatric emergencies. We aimed to identify the need for paediatric Mock Code Blue skills training among non-paediatricians in a pre-hospital setting through checklist assessment of their performance. Methods: A paediatric septic shock and cardiac arrest Mock Code Blue pre-hospital scenarios were presented for non-paediatricians during a National Clinical Skills Conference. Eight medical student assessors and four clinical facilitators were involved in this training. Participants were expected to be able to demonstrate the skills and teamwork necessary to managepaediatric emergencies according to the learning outcomes. Results: A total of 97 delegates participated in a facilitated paediatric Mock Code Blue for multidisciplinary groups of health personnel. Outcome measures showed a significant lack of communication and team work skills, and weakness in “closing the loop” as barriers to successful resuscitation. Conclusion: We recommend Mock Code Blue simulation training to be offered regularly to all groups of healthcare providers involved in paediatric and neonatal care while not overlooking the emphasis on non-technical skills.
Visceral hyperalgesia, intestinal dysfunction and unexplained irritability in neurological impaired children is a medical enigma for many healthcare professionals. The neuro-medical management can be challenging and difficult, due to poor understanding of the underlying aetiology and pathophysiology of the condition. Neuro-enteric axis has been proposed as emerging physiologic mechanism in the pathogenesis of many gastrointestinal diseases. The bidirectional connection between enteric and central nervous system may represent a direct relationship between neurological system and gut physiology. Insult to the brain indirectly contribute to the ongoing gut and brain axis sequalae. Microbiota has been an important modulator in the brain-gut axis. Irritability episodes in severe neurological impairment children has been commonly associated with pain originated from gastrointestinal pathology. Management of such condition requires a holistic approach to tackle multidimensional factors that has contributed to the ‘totality’ of the symptoms.
The clinical diagnosis of snakebite is critical, particularly in Southeast Asia where venomous snakebites are a public health concern. Additionally, cases involving unwitnessed snakebite with no species identification, especially in non-verbal children posed a challenge in the emergency setting. A 2-year-2-month-old boy presented to our emergency department with signs of neurotoxicity. He was restless and mildly bradypnoeic with the respiratory rate of 24 to 28 breaths per minute. He also had bilateral ptosis with absent gag reflex. There were faint fang marks noted over the medial aspect of his left ankle with local swelling and bruises, despite no history of animal bite and no eyewitness. A high index of suspicion of neurotoxic envenomation was prompted and a total of 6 vials of neuro-polyvalent anti-venom were administered in scheduled batches. Progressive clinical recovery was subsequently observed after the first batch of anti-venom administration. The case illustrated the importance of clinical recognition of neurotoxic envenomation in the absence of snake bite history or species identification. Early administration of anti-venom may potentially reverse the neurotoxic effects of systemic envenomation and saves lives.
Neonatal mastitis and abscess are rare and most often unilateral. Neonatal breast massage for physiological breast hypertrophy is suspected to be a predisposing factor in the case reported here: a 14-day-old neonate with bilateral neonatal breast abscess, treated effectively with intravenous cloxacillin and surgical aspiration.
Cor-triatriatum is a rare cardiac anomaly. In literature, majority case reports on the condition focused on its late presentation in adulthood. It can be easily corrected by surgical intervention to avoid pulmonary congestion and subsequent pulmonary hypertension. We report a rare case of cor-triatriatum with severe pulmonary hypertension in a 7-week-old baby who presented with persistent tachypnoea.
Obsessive-compulsive disorder (OCD) is a neuropsychiatric disorder characterized by recurrent intrusive, distressing thoughts and repetitive behaviours or mental rituals performed to reduce anxiety. The lifetime prevalence of OCD is 2.3% and it can happen to all people of various levels, including child and adolescent. The mean age of onset is 19.5 years, and a subset of patients, mostly males, have an early onset before 10 years of age. The lifetime risk of developing OCD is higher in females, who typically develop the disorder in adolescence [1]. Person with OCD usually presented with obsession involving various themes, namely contamination; repeated doubts; religious, need for symmetry and exactness, or taboo thoughts of a sexual, religious, or aggressive nature. Whereas, the most common compulsions are checking, washing, hoarding, and counting compulsions[1]. (Copied from article).
Primary immunodeficiency disease (PID) or inborn error of immunity is a heterogeneous group of inherited diseases affecting the immune system resulting in increased susceptibility to infections, immune dysregulation, autoimmune manifestations, lymphoproliferation and malignancy. Cases of PIDs have been reported in Malaysia since 1977 and the numbers of reported cases steadily increased for the past 30 years with more trained clinical immunologist available, better immunodiagnostic facilities, wider immunoglobulin replacement therapy availability and improved techniques in haematopoietic stem cell transplantation for PIDs. In this article, we highlight some of the limitations and challenges in the diagnosis and therapy of PID, and more recent efforts to establish PID services in Malaysia.
Chronic granulomatous disease (CGD) is defined as an inherited phagocyte disorder causing defective superoxide generation and intracellular killing. Reduced or missing burst activity of nicotinamide dinucleotide phosphate (NADPH) oxide complex is observed in this inborn defect that usually manifests itself during the first two years of life. It can be inherited either by X-linked inheritance or autosomal recessive inheritance. Most patients with CGD develop failure to thrive, severe bacterial adenitis, abscesses, osteomyelitis or hyperinflammaory manifestations. (Copied from article).