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.
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).
Airway managements in maxillofacial fracture patients are complex and crucial. Trauma to the maxillofacial region may cause hemorrhage, swelling which may lead to pulmonary aspiration and airway obstruction. Airway managements in maxillofacial fracture patients are complex and crucial. Besides being uncooperative, presence of fractures and soft tissue injuries posed challenges in managing pediatric patient who already have smaller airway opening. This condition is an important red flag which required extra caution from the treating clinicians. A 6-year-old boy was involved in a road traffic accident and presented with profuse bleeding from the oral cavity and nostrils. Physical examination showed oozing of blood with step deformity of the midpalate. Multiple attempts in intubation resulted in failure before succeeding with the aid of suction devices. After intubation was done, intraoral bleeding was successfully managed with transpalatal wiring and nasal packing. The patient was ventilated in the intensive care unit and was extubated two days later. He was discharged well from hospital after one week of admission. Airway management is a rush against time, particularly in a pediatric patient suffering from a palatal fracture. The need for helping hands for suction and child control must be emphasized to ensure the patient’s survival.
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.
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: 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.
Progression to AIDS is more rapid in HIV-infected children. Objective: Our study aimed to investigate the effect of HIV status disclosure in children in terms of their perception of the illness, knowledge on their disease and medications and the overall impact on their quality of life.
Methods: A qualitative study was conducted from 1st June 2017 till 8th September 2017 involving face-to-face interviews with HIV-positive children receiving combination anti-retroviral therapy (cART) under paediatric HIV clinic follow-up, Hospital Tuanku Fauziah, Kangar, Perlis. Transcribed interview dialogues were subsequently coded for analysis.
Results: Data were collected from 6 out of 8 HIV-positive children on cART in Hospital Tuanku Fauziah, Perlis. Participants’ mean age was 12.2 years (standard deviation [SD] 2.11); 3 with disease disclosure. Disease-disclosed participants with ironically poor knowledge on their disease emerged as the key theme in the study. Disease-disclosed participants were also noted to be more withdrawn with very few friends, if any. Disease disclosure status did not affect the patients’ knowledge and compliance to medication.
Conclusion: Assessment of patients’ understanding after disease-disclosure session is crucial to encourage therapy adherence and prevention of future transmission. Re-appraisal of the healthcare policy with regards to holistic management of children living with HIV is warranted to attain positive social and developmental goal throughout their lives.
Study site: paediatric HIV clinic follow-up, Hospital Tuanku Fauziah, Kangar, Perlis
Objectives: Chromosomal abnormalities especially aneuploidies are the most common etiology for pregnancy loss. Trisomy 13, trisomy 18 and trisomy 21 are the most common chromosome autosomal aneuploidies with trisomy 21 (Down syndrome) being the most common chromosomal abnormality among liveborn infants. In previous reports, we noted that the recurrence of these aneuploidies in some families may not occur by chance alone.
Methods: Extraction of relevant data from review of medical case notes of a young couple with two offspring with Down syndrome (DS) and Patau syndrome.
Results: A family history of DS is a predisposing factor for both DS and other types of aneuploidy. Certain instances of non-disjunction error are not random.
Conclusion: As the maternal age was not advanced in both pregnancies, there is a possibility that the recurrent aneuploidy in this family may not be accounted by chance alone. The risk of having subsequent affected pregnancy cannot be ignored in this family and prenatal diagnosis is strongly recommended in the subsequent pregnancy.
Introduction and Objective: Pneumococcal disease is a leading cause of morbidity and mortality worldwide. There were limited publications on invasive pneumococcal infection (IPD) in Malaysia. The aim of this study is to describe restrospectively cases of IPD in hospitalised children of less than 12 years old and highlighting the unusual cases.
Methodology: A retrospective review of children with IPD from March 2002 to November 2005 at a tertiary paediatric hospital. IPD cases were defined as isolates of Streptococcus pneumoniae from a normally sterile body fluid site.
Results: Twenty-four patients were identified with a male preponderance. Two-thirds of patients were below 1-year-old; with three cases presenting in the premature newborn. Thirty-seven percent of cases had underlying conditions. Sepsis and pneumonia were the commonest manifestation, followed by meningitis. The unusual manifestations were in a form of postinfectious glomerulonephritis and overwhelming purpura fulminans. There were two mortalities; both infants had meningitis. Antibiotic susceptibility pattern showed that more than half of the isolates were sensitive towards penicillin and erythromycin. Penicillin resistance was found in 6 (25%) isolates. Conclusion: IPD results in significant morbidity and mortality, especially in young children below 2 years of age and justifies further evaluation of preventive strategies including the implementation of pneumococcal vaccine in the national immunisation programme.
Music therapy is rarely available within the medical services in Malaysia. Hospitalized children experience a great deal of stress, anxiety, and pain due to unfamiliar environment, separation from the family, a variety of medical procedures and treatments, and the uncertainties of the illnesses. Music is often used to cope with both physical and psychological distress clinically because of its pervasiveness and familiarity. The purpose of this article is to elaborate the effectiveness of music therapy in addressing both physical and psychosocial needs of hospitalized children. The three case studies demonstrated how a variety of music therapy interventions are used to facilitate individualized goals and to improve the quality of life.
Introduction: Vaccine-preventable diseases such as pertussis are re-emerging in Malaysia during recent years.
Objective: This research aims to study the local incidence of clinical pertussis among paediatric patients admitted to Hospital Tuanku Fauziah, Perlis over two-year period.
Method: A cross-sectional study was designed in Department of Paediatrics, Hospital Tuanku Fauziah, Perlis from 1 January 2013 till 31 January 2015. Data were collected from medical and laboratory record of cases admitted for clinical pertussis. Analyses for descriptive data were done using frequency and percentage; Pearson chi-square or Fisher exact was used to test association.
Results: 81 cases of clinical pertussis were included in the study. Out of this, there were a total of 28 confirmed cases of pertussis. There was a steady increment in the incidence of pertussis throughout the study period. Cyanosis emerged as the only clinical sign significantly associated with pertussis (p = 0.011). Majority of the confirmed pertussis cases were too young to be immunized (n = 13, 46.4%).
Conclusion: Reappraisal of local health system to strengthen herd immunity in the community is warranted to control disease spread.