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.
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
A Malay baby boy with the femoral-facial syndrome is presented. The phenotype included bilateral femoral hypoplasia, short nose with a broad nasal tip, long philtrum with a thin upper lip, micrognathia, bilateral cryptorchidism and hypoplastic penis.
Significant advances in perinatology and neonatology in the last decade have resulted in increased survival of extremely premature infants.' Survival rates at 25 and 26 weeks of gestation age ranging from 60% to 82% and from 75% to 93%, respectively, have been reported.' In Malaysia, the survival rates among premature very low birth weight infants (< 1500 g) were reported to be between 69% and 78%.2,3 Such improvements of survival have been attributed to the advances in the management of respiratory disease and intra-ventricular haemorrahge in the premature infants.',2 Thus, attention have recently been focused on the need to secure adequate nutrient intake of these premature infants. Parenteral nutrition has often been used to manage the transition between transplacental nutrition in-utero and post-natal enteral nutrition, but is associated with cholestasis and sepsis.4 However, the ability to deliver nutrition is limited not only by immature absorptive or digestive function but by inadequate motor activity. Gastroesophageal efflux (GER) and feeding intolerance are the major gastro-enterological problems of the premature neonates.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked red blood cell enzymopathy common in malaria endemic areas. Individuals affected by this disease show a wide variety of clinical signs including neonatal jaundice. In this preliminary report we describe the heterogeneity of G6PD deficient gene in neonatal jaundice in the Malay population in Kelantan. Thirteen G6PD deficient Malay neonates with hyperbilirubinemia were subjected to mutation analysis of the G6PD gene for known candidate mutations. Molecular defects were identified in the 13 patients studied. Though all of these were mis-sense mutations, identified nucleotide changes were heterogeneous. Six patients were found to have a C to T nucleotide change at nucleotide 563 of the G6PD gene (C563T), corresponding to G6PD Mediterranean; three cases had a single nucleotide change at T383C (G6PD Vanua Lava), two cases had G487A (G6PD Mahidol) and two cases had G1376T (G6PD Canton). These findings suggest that there are heterogeneous mutations of the G6PD gene associated with neonatal jaundice in the Malay population in Kelantan.
HbE/β-thalassemia is the most common severe form of thalassemia particularly in SEA region including Malaysia and globally, it comprised of a significant severe form of β-thalassemia disorder. It has various clinical manifestations ranging from very mild anemia to severe manifestation similar to beta thalassemia major. Many different syndromes are observed in HbE/β-thalassemia. Several genetic modifiers have been reported to play important role in contributing to phenotypic variability. The true reasons underlying this phenotypic variability remain unknown. The most reliable predictive factor of the disease phenotype is the nature of the beta globin gene mutation itself. However, the degree of severity is also believed to be affected by other genetic modifiers. For instance, high HbF level ameliorates the clinical severity of β thalassemia patients. Therefore, identification of these genetic modifiers is very important. The association of severe clinical manifestation and the specific β-globin gene mutation has been known. But the wide scope and other potential predictors have been only recently appreciated. This review therefore aimed to reveal the potential genetic modifiers of HbE/βthalassemia patients based on the previous reported studies. A better understanding on the mechanisms underlying the variety of phenotypes of this disease may lead to the direction for a better future management plans. This also promotes “personalized medicine” in patient care.
The aim of this paper was to study hand washing practices in the Neonatal Intensive Care Unit (NICU), Hospital Universiti Sains Malaysia. All medical personnel handling babies in the NICU were observed without their knowledge for a total of three times before and after an educational intervention between November 1, 1993 and December 31, 1993. Hand washing techniques with both Hibisol Spray and Chlorhexidine were scored from 1-4. The results of the study are shown as follows: the number of personnel observed were: before educational intervention -paediatric doctors (PD) 14, non-paediatric doctors (ND) 13 and nurses (N) 48; after educational intervention - PD 10 , ND 12 and N 42. PD and N washed hands significantly more often than ND (p < 0.001), before and after intervention. PD but not ND or N improved their rate of hand washing after educational intervention PD (p= 0.02). The Hibisol handwashing technique was poor in all groups (77.1% of all observations). The Chlorhexidine hand washing technique was better than Hibisol (p<0.0001). However only 15% of observed washes with Chlorhexidine were well done and almost one third were done poorly. Both Hibisol and Chlorhexidine techniques did not improve after educational intervention. Hand washing was performed more often in the Level III than Level II nursery [85% of all observations in Level III and 73% of all observations in Level II, p=0.002]. In conclusion, the present educational program is not sufficient and more direct means should be taken to improve the frequency of hand washing among all medical personnel. All medical personnel in the NICU should be educated in the use of the Hibisol, otherwise Hibisol should be removed from the nursery.
Keywords: Handwashing, doctors, neonatal intensive care unit, nurses
Study site: Hospital Universiti Sains Malaysia, Kelantan, Malaysia
Helicobacter pylori (HP) was first described in 1983 by Warren and Marshall.' It is a spiral-shaped bacterium measuring 2-4p,m x 0.5-1.0μm. Since it was discovered, the organism has rarely been isolated from sites other than the stomach.2 Available evidence, therefore, points to the human stomach as the normal habitat of this bacterium. The infection is contracted primarily in childhood.' It has been shown that colonisation by HP is rare under the age of five years, but thereafter, it becomes gradually more frequent, and by sixty years of age more than 50% of individuals may be affected
Henoch – Schonlein purpura (HSP) is a vasculitis of small sized blood vessels. It is the most common acute systemic vasculitis in childhood. It mainly affects skin, gastrointestinal tract, joints and kidney. It results from Immunoglobulin A mediated inflammation. The characteristic skin findings are palpable purpuric lesions over the lower limbs and buttocks. The occurance of haemorrhagic bullae in children with HSP is rarely encountered. This case report describes a 12 year old boy with bullous haemorrhagic HSP treated at Institute Paediatric, Hospital Kuala Lumpur.
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
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
Neuroblastoma is usually presented with abdominal distension. However, central nervous system manifestations of neuroblastoma are uncommon. In this case report, patient presented with uncommon presentation of neuroblastoma and the diagnostic dilemma.
The problem-based learning (PBL) curriculum, which originated primarily from the Faculty of Health Sciences at McMaster University in 1969, has had a major impact on the thinking and practice in medical education. It is one of the most important developments in the health profession's education in the latter part of the twentieth century) The PBL process incorpo-rates fundamental educational principles such as those derived from adult learning theory' and this gives the PBL approach a greater effective-ness for the acquisition of basic knowledge and clinical skills.
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.
A 46 day old female Chinese infant was referred for fail-ure to thrive, jaundice, hepatomegaly and bilateral cataracts. She had vomiting,blood stained stools and severe unconjugated hyperbilirubinaemia soon after birth. The jaundice persisted. At one month of age, pale stools, firm hepatomegaly and bilateral cataracts were noted. Radionuclide hepatobiliary scintigraphy per-formed at another hospital excluded biliary atresia. Investigations showed cholestasis but a negative sero-logical screening for congenital infections. A presump-tive diagnosis of galactosaemia was made and the infant was started on lactose free formula. A deficient red blood cell galactose- 1 -phosphate uridyltransferase (GALT) activity was demonstrated later. Review eight months after the initial diagnosis showed a thriving infant with no jaundice, but persisting cataracts and firm enlarged liver. A high index of clinical suspicion, labo-ratory confirmation of a deficient GALT activity and prompt withdrawal of lactose from diet are necessary to avoid any delay in diagnosis and management of this condition.
An eight-year-old Chinese girl presented with a slowly progressive generalized muscle weakness and wasting, complicated by respiratory failure. She had many hospital admissions requiring ventilator support. Eventually tracheostomy tube was inserted. Initial investigations failed to elicit a diagnosis but a muscle biopsy and histological study confirmed the diagnosis of juvenile acid maltase deficiency.
Respiratory papillomatosis is a disease of viral origin which is characterized by warty exophytic lesions in the aerodigestive tract. It is the most common benign lesion of larynx and the second most common cause of hoarseness in children. It has the tendency to recur and to spread through out the entire length of the aerodigestive tract. Although a benign disease, it has the potential of morbid consequences in view of airway complications and the risk of malignant transformation. We report a case of juvenile onset of respiratory papillomatosis and its therapeutic challenges.
A cross-sectional study using structured questionnaires was conducted to determine the level of knowledge, attitude and practice on breast-feeding among working mothers. A total of 200 working mothers who attended the Child Health Clinics in Temerloh, for their chil-dren's third DPT/Polio vaccination were interviewed. Eighty-nine percent of the mothers successfully initiat-ed breast-feeding. However, there was a rapid decline in breast-feeding each month especially during the period when the mothers returned to work. Only 33.5% of the mothers had at least one experience in expressing and feeding expressed breast milk to their babies and only 47% reported that they had been taught by health work-ers. The mothers scored highest on the 'benefits of breast-feeding' with a mean knowledge score of 77.9% and lowest on "storage of expressed breast milk" (35.4%). Overall the mothers showed a positive attitude towards breast-feeding. The two main reasons given for stopping breast-feeding were "work" (61.4%) and "insufficient milk" (57.9%). In conclusion, other areas of breast-feeding besides benefits such as "expressing and storing breast milk" and "how" to practise breast-feeding while working away from home are also impor-tant for working mothers.