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.
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).
Four hundred and forty three teachers from eight ran-domly selected primary schools were enrolled in this study which was aimed at determining the knowledge regarding child abuse and neglect among primary school teachers in Kuala Lumpur. The areas that were examined included characteristics of child abusers and abused children. The results showed that the marital status of the teachers did not influence their level of knowledge and there was no significant difference between novice and senior teachers. The most impor-tant finding here was that knowledge regarding sexual and physical abuse was lacking in the teachers surveyed.
Life (QOL) of patients with childhood leukaemias presenting at the Hospital Universiti Kebangsaan Malaysia (HUKM). The objectives of this pilot study were 1) To assess the feasibility and applicability of assessing quality of life in leukaemia patients using the adult-based SF-36 questionnaire. 2) To compare the differences of QOL scores among patients based on gender and treatment status. The Short-Form-36 Health Survey (SF36) was used. The items in SF-36 were drawn from the original 245-item MOS questionnaire, which includes multi-item scales that measured the eight dimensions of quality of life namely physical function, role limitations (physical problems), bodily pain, general health, vitality, social functioning, role limitations (emotional problems) and mental health. Patients with acute leukaemias were chosen to participate in the study. Twenty-eight patients were recruited, twelve were males and 16 were females. Ten patients had completed therapy whilst 18 others were still undergoing treatment. The results showed that those patients off treatment have a better quality of life than those on chemotherapy. However, this was only significant with respect to the role limitation pertaining to physical problems. Although the use of the SF-36 was feasible, there were limitations especially in the younger age group.
Child abuse's trend has been on the rise in Malaysia. Despite strong legislative rules of Child Act 2001, the response of the community is believed to be inadequate. Various factors have been highlighted to ensure effective management of the issue. Child abuse is considered a social emergency due to its complexity and involvement of emotional, family dynamic and domestic instability. The success of the managing these cases largely depends on our urgency and collaborative partnership between multidisciplinary team members, to improve on the welfare of these children, albeit a slower outcome. The community as a whole has to be proactive in reporting hidden cases to avoid mortality or morbidity, as a result of the perpetrator's actions.
Neonates are obligate nasal breather until they are at least two to five months old. Congenital nasal airway obstruction is one of the commonest causes of respiratory problem in newborn. Congenital nasal pyriform aperture stenosis (CNPAS) was first described by Brown et al in 1989 [1] and is a rare cause of nasal airway obstruction which may clinically mimic choanal atresia.(Copied from article)
Scurvy resulting from dietary deficiency of vitamin C is characterized by anaemia, tender limbs swelling and hemorrhagic manifestations such as petechiae and bruises. We report a case of scurvy in a 13 years old boy with cerebral palsy who presented with history of limbs bruising and swelling for 2 months. On examination, he was cachexic and pale with poor dentition and swollen gum. There were extensive bruises and swollen limbs as well. His platelet count and coagulation profile were normal. Limbs X-ray revealed classical scorbutic changes in the long bones. Serum ascorbic acid level was low
Purpose: We aim to describe the clinical profile and visual outcome of paediatric patients who underwent cataract surgery in a tertiary ophthalmology referral centre in West Malaysia from 2013 to 2018. Methods: This is a retrospective review of all paediatric patients who underwent cataract surgery in our centre from 2013-2018. Results: A total of 35 eyes from 23 patients were included. There were 10 (43.5%) female and 13 (56.5%) male patients. Twelve patients (24 eyes) had bilateral cataract while 11 patients had unilateral cataract. Sixteen (45.7%) eyes had congenital cataract, followed by ectopia lentis (n=10, 28.6%), traumatic cataract (n=8, 22.9%) and steroid induced cataract (n=1, 2.8%). Three types of intraocular lens (IOL) were implanted: which were posterior chamber IOL (n=22, 62.9%), iris claw IOL (n=12, 34.3%) and scleral-fixated IOL (n=1, 2.8%). Majority of eyes (n=28, 80%) had primary IOL implantation. Twenty-five (71.4%) eyes achieved best corrected visual acuity (BCVA) of 6/12 and better at 6 months post-IOL implantation. There was no statistically significant difference in the BCVA at 6 months post-IOL implantation among the different cataract aetiology, primary or secondary IOL implantation and types of IOL implant. Eight (22.9%) eyes developed post-operative complications, which included posterior capsular opacification (PCO) (n=6, 17.1%), IOL decentration (n=4, 11.4%) and glaucoma (n=1, 2.8%). Nineteen (82.6%) patients required glasses for visual rehabilitation. Conclusion: Majority of the paediatric cataract patients achieved BCVA of 6/12 or better at 6 months post-IOL implantation. The visual outcome among the different cataract aetiology, primary or secondary IOL implantation and types of IOL implanted were similar. PCO was the most common post-operative complication.
Application of genome editing have garnered a lot of attention in the scientific world. Its ability to make permanent and precise modification or ‘edits’ in the genomic DNA sequences have open up the possibility of probing the functionality of genes and correcting abnormal genes to treat genetic diseases. The CRISPR/Cas9 which was adapted from Type II bacterial adaptive immune system is the most applied genome editing system due to the ease and efficiency of the system in customising the nucleases needed in editing the targeted sequences. However, the downside of this system is the high frequency of ‘off-target’ editing caused by the nature of the Cas9 protein that can tolerate mismatches between customised nucleases; sgRNA, and the genomic sequences. Despite the set-back, researchers continue applying CRISPR/Cas9 system to edit the genome by minimising the frequency of ‘off-target’ edits. Application of the improved system had successfully produced numerous results in the initial treatment of genetic diseases such as cystic fibrosis, β-thalassemia, and Duchenne Muscular Dystrophy. The fast-paced development and improvement made to this system will continue to be utilised by the researchers around the world for the treatment of human diseases, a progress much needed and awaited.
Choanal atresia is an uncommon malformation of the upper airway. Bilateral choanal atresia usually detected earlier as it is often associated with severe asphyxia immediately after birth. The diagnosis is often delayed in unilateral type, and mostly presented with unilateral chronic nasal discharge. This condition is rarely encountered but should be considered as a possible differential diagnosis of persistent nasal discharge. We present a case of unilateral congenital choanal atresia in a 4-month-old baby girl presented with persistent unilateral nasal discharge. Diagnostic investigation and possible surgical treatment techniques were discussed.
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.
Thalassaemia is a hereditary blood disorder that is becoming a major health problem all over the world. This chronic illness harms the quality of life of the sufferers by interrupting their physical activities, school performance and social life. Hence, this review takes aim to assess the factors affecting the quality of life of thalassaemia among paediatrics patients. A comprehensive electronic search was conducted by using PubMed, Google Scholar and Science Direct. The search was limited to those articles written in English language and by using Pediatrics Quality of Life Inventory (PedsQLTM) 4.0 generic core scale questionnaire only. This review notifies emerging knowledge regarding the factors affecting the quality of life among thalassaemia patients and its implications in the essential core domains for paediatrics health-related quality of life measurements: physical, emotional, social and school functioning. It also empowers a better understanding regarding thalassaemia and assists as a foundation for the development of the effective preventive strategies for it.
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.
During a 24-month period, 21 children with acute bacterial meningitis were identified and studied. The majority of the children was from low socio-economic group and the male:female sex ratio was equal. Seventeen children (81%) were aged twelve months or below. In 15 (71.5%) of the children. Haemophilus influenzae type b was recovered, while Streptococcus pneumoniae was isolated from 4 children. Neisseria spp and Salmonella spp were identified respectively in each of the other two cases. The case fatality was four (19.0%) with nine others (42%) exhibiting neurological sequelae. Except for the Salmonella spp strain that was resistant to the cephalosporin, the rest of the bacterial species were sensitive to the commonly used antibiotics. As Haemophilus influenzae type b is still the most prevalent cause of acute bacterial meningitis, it is therefore strongly recommended that the national immunisation programme in this country should include the vaccine for it in our effort to minimise the mortality and morbidity caused by this organism.
Inborn errors of metabolism (IEM) are a group of disorders that causes abnormal function of biochemical pathways. Archibald Garrod des-cribed the first inborn error of metabolism in 1893. He described alkaptonuria in a patient whose urine turned black on standing and the development of arthritis in adult life.' Subse-quently, Garrod encapsulated the idea of IEM in 1908 with the concept of 'chemical indivi-duality'. Beadle and Tatum proposed the concept of one gene - one enzyme in 1945.2 Phenyl-ketonuria (PKU) was described in 1934 and amongst the first to be recognised as a cause of mental handicap with a biochemical basis.' Effective treatment for PKU with low pheny-lalanine diet was introduced in 1955. Molecular characterisation of genetic defects localised to alleles in various chromosomes were performed in the last two decades
Tuberculosis in children remains a public heath concern in Malaysia and other developing countries. Mycobacterium tuberculosis (TB) infection of the liver, known as hepatic TB, is an extra pulmonary manifestation of TB. Tuberculous bacilli can reach the liver via hematogenous dissemination through hepatic artery, or by local spread from the gastrointestinal tract via portal vein [1].(Copied from article)
Background: A 9 year old boy presented with history of persistent headache and recurrent vomiting for 1 month post dental extraction. CT brain was performed for the possibility of space occupying lesion but it was normal. Subsequently, he was treated as migraine after exclusion of meningitis and intracranial lesion. Unfortunately, he developed 3rd, 4th and 6th cranial nerve palsy two weeks later. Repeated CT brain showed subtle finding and inconclusive. MRI brain performed at the time showed features suggestive of basal skull osteomyelitis with congestion of right orbit and optic nerve swelling. Case was referred to Paediatric Neurologist and he was diagnosed to have cranial nerve palsy secondary to basal skull osteomyelitis, post dental extraction.
Conclusion: Dental procedure is common among children, however basal skull osteomyelitis with cranial nerve palsy is a rare complication. Adequate treatment of dental infection post dental procedure is important to prevent this complication.
Objective: This study aimed to determine the prevalence of anaemia in children aged six months to fifteen years old treated in a single centre from 2008 to 2018. Methods: A retrospective study was conducted among 274 children age six months to fifteen years old, treated in Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia (USM) from 2008 to 2018. The data was obtained from computerised hospital data (CARE2X), Laboratory Information System (LIS) or medical record. Parents of the eligible participants were called for any incomplete data and verbal consents were obtained. Descriptive analysis was conducted to determine the prevalence whereas the relationship between independent variables with types of anaemia were examined using simple logistic regression. Results: The prevalence of anaemia was 22.3%. Among the anaemic children, the predominant morphology form was hypochromic microcytic anaemia (82%) followed with normochromic normocytic anaemia (18%). Iron deficiency anaemia (IDA) was found to be the commonest cause (24%) of hypochromic microcytic anaemia, followed by IDA with concomitant thalassaemia (14%) and thalassaemia alone (8%). In simple logistic regression analysis, no significant association was found. Conclusions: The prevalence of anaemia was 22.3%, which is considered as moderate public health problem according to WHO. Hypochromic microcytic anaemia was the predominant red cell morphology (82%) and IDA was the commonest causes (24%).
Introduction: There are many factors that determine the survival of patients with VSD. Among these include size of VSD, position, pulmonary hypertension, bacterial sepsis, valvular involvement, associated anomalies with VSD, associated syndromes and age at first diagnosis. There has been no published local data as far as we know and this information will be useful especially for consultation with parents. Even though VSD in general has a good prognosis, whenever they have added risks for example pulmonary hypertension then they are at risk of further morbidity and mortality. Objective: To determine the factors that are associated with survival of patients with VSD. Design: Retrospective cohort. Materials and methods: All cases of isolated VSDs admitted to HUSM from 1996 to 2003 were reviewed. Results: Univariate Cox regression of survival time of patients with VSDs revealed that 4 factors had prognostic significance namely bacterial sepsis (HR= 287.7, 95% CI 51.1, 1618.5, P < 0.001), Down syndrome (HR = 14.89, 95% CI 3.00, 73.92, P = 0.001), pulmonary hypertension (HR=14.58, 95% CI 1.69, 125.7, P=0.015) and large VSDs (HR=8.23, 95% CI 1.5, 45, P=0.015). Bacterial sepsis was the only significant prognostic factors for the survival of patients with VSDs using the multivariate Cox proportional hazard model. Conclusion: Bacterial sepsis, pulmonary hypertension, large VSD and Down syndrome were the significant prognostic factors from Univariate Cox analysis, however bacterial sepsis was the only significant prognostic factor from Multivariate Cox analysis.