The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations were detected. Seventy five percent of the patients were Chinese-Malaysians and showed the commonly occurring anomalies: 1. frameshift codon 41 and 42 (-TCTT); 2. the C to T substitution at position 654 of intron 2 (IVS-2); 3. the mutation at position -28(A to G); and the nonsense mutation A to T at codon 17. In the Malays, the common mutations seen were: 1. the G to C mutation at position 5 of IVS-1; 2. the G to T mutation at position 1 of intron 1 (IVS-1); and the A to T at codon 17. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta-thalassaemia to be instituted.
A total of 56 subjects with auricular sinuses were investigated at the ENT clinic of University Kebangsaan Malaysia (UKM) from April 1986 to April 1987. Infection was the main complaint, accounting for 60% of the cases. Chinese formed the majority of the patients (51%) and the commonest age group was between 1 to 10 years. Multiple anomalies were seen more amongst the Indians and none were noted among the Chinese subjects. Hearing loss was noted in 6% of the cases. Only infected cases were operated and none showed recurrence.
Study site: ENT clinic, Pusat Perubatan University Kebangsaan Malaysia (PPUKM), Kualal Lumpur, Malaysia
This is the first epidemiological survey of mental disorders among children in a Malaysian village. The WHO Research Questionnaire for Children (RQC) was used for initial screening followed by a semistructured interview, the Follow-up Interview for Children (FIC) at its second stage. Diagnosis was obtained by using Rutter's multi-axial classification. The prevalence rates obtained for the diagnostic categories were described in 3 age groups, in accordance with the age of attending school in Malaysia. Of 507 children screened aged 1-15, 6.1% were classified as having a mental disorder.
All post-neonatal children with acute non-traumatic coma admitted over an 8-month period were analysed and followed up for 18-24 months to determine the aetiology and outcome of their coma. One hundred and sixteen children, 72 boys and 44 girls, were recruited. Half the children were under 1 year of age and only 16 (14%) were more than 6 years of age. Eighty cases (69%) were due to infection, 15 (13%) to toxic metabolic causes, six (5%) to hypoxic ischaemic insults, four (3.5%) had intracranial haemorrhage, nine (7.8%) were due to miscellaneous causes and in two (1.7%) the cause was unknown. Seven cases were lost to follow-up. Of the remainder, 39 (35.7%) died, 32 (29.3%) developed permanent neurological deficit, and 38 (35%) were discharged well. The outcome was worst in the infectious group. Age of onset and sex did not significantly affect outcome. Our findings are similar to experience in Japan, where infection accounts for 74% of non-traumatic coma, but differ considerably from Western data on childhood coma where only a third of cases are due to infection.
The upper eyelid crease height pretarsal skin and eyebrow height were studied in 305 Malay subjects (146 males and 159 females) varying in age from 2-80 years, who were randomly selected from the residents of Kota Bharu, Kelantan. In females, from the age of 11 years the mean pretarsal skin height increased progressively with age. In males, however, it decreased with age up to 60 years. In both sexes, subjects more than 60 years old showed highest values for pretarsal skin height. The mean eyelid crease height increased progressively with age from 11 years onwards in males but not in females. The mean eyebrow height increased with age in females but not in males. Eyebrow and eyelid measurements seem to show a definite racial variation. Besides establishing normal values for eyelid and eyebrow measurements in Malays, our findings indicate that age and sex should be taken into consideration to achieve satisfactory results in cosmetic eyelid surgery in Malays.
In dengue shock syndrome, an acute increase in capillary permeability results in leakage of plasma into the interstitial space. Pleural effusion is commonly seen in dengue shock syndrome. We report three cases of dengue-associated adult respiratory distress syndrome (ARDS) in children, in all of whom dengue haemorrhagic fever, presenting with grade 3 or grade 4 dengue shock syndrome with disseminated intravascular coagulopathy, was confirmed. The criteria for the diagnosis of ARDS were based on the expanded definition of ARDS by Murray et al. Treatment consisted of fluid resuscitation, correction of coagulopathy and mechanical ventilation. All three children had multi-organ impairment, but it was more severe in the two who died. The one survivor was well at discharge.
This paper reviews the subject of tuberous sclerosis complex and presents data in eight cases of this condition, admitted to Hospital Universiti Sains Malaysia over a period of 8.5 years. The average age at presentation was 53 months. Seizures were the most common presenting feature. Male to female ratio was 3:1. Family history was present in four patients. All of the patients had one or more skin lesions. Six of them had retinal in six patients. Two patients had renal angiomyolipomas. A high index of hamartomas. Cardiac tumours were found in two patients. Multiple subependymal hamartomas were detected in six patients. Two patients had renal angiomyolipomas. A high index of suspicion and a detailed physical examination is required to diagnose this rare disorder.
A dot enzyme immunoassay (EIA) using 50-kD outer-membrane proteins (OMPs) of Salmonella typhi was compared with the Widal test for the serodiagnosis of typhoid fever in 109 febrile children admitted to a hospital in an endemic area. In the culture-positive typhoid group, the initial dot EIA was positive in 40 of 42 cases and the initial Widal test was positive in 41. In the culture-negative clinical typhoid group, both the dot EIA and the Widal test were positive in 17 of 18 cases. In the nontyphoidal fever group, the dot EIA was negative in all of 49 cases and the Widal test was negative in 44. With culture used as the gold standard, the dot EIA is as sensitive as the Widal test (95% vs. 98%), has a similar high negative predictive value (96% vs. 98%), and is more specific (75% vs. 67%). In addition, the dot EIA offers the advantages of simplicity, speed, early diagnosis, economy, and flexibility (i.e., other diagnostic tests can be conducted simultaneously).
One hundred and thirteen patients sustaining blunt abdominal trauma over a 24-month period were retrospectively divided into three groups to assess parameters of three diagnostic methods and the time-lapse before implementing surgical treatment. Diagnosis was based in group A patients (n = 20) on physical findings, plain radiology, and blood and urine examinations. Diagnostic methods in group B patients (n = 35) and in group C patients (n = 58) were as in group A but with the addition of diagnostic peritoneal lavage (DPL) in group B or with the addition of diagnostic abdominal ultrasonography (DAU) in group C. Sixty-five patients underwent abdominal exploration. The time-lag from commencement of examination to surgery was 332.33 +/- 48.90 min, 251.82 +/- 29.08 min and 570.89 +/- 133.80 min respectively in groups A, B and C. It was significantly shorter in group B compared with group C (P = 0.03). DPL had a sensitivity of 95%, a specificity of 81% and an accuracy of 89% whilst DAU had a sensitivity of 79%, a specificity of 85% and an accuracy of 83% in detecting significant injury. The conclusion is that DPL in combination with DAU would facilitate early assessment and treatment of intra-abdominal injuries.
This is a study of infant feeding practices of 126 mothers. Seventy-seven mothers or 61.1% practised breast feeding. The typical breast feeding mother was more likely to be a Malay, with lower family income and residing in the rural area. The educational status of the mother was not an important factor in influencing her to breast feed. Health education on breast feeding should be intensified in schools to reinforce the implementation of the Malaysian Code of Ethics for Infant Formula Products.
Immunophenotypic studies using immunofluorescent flow cytometry were performed on the blast cells of 36 patients with acute leukaemia using a panel of eight monoclonal antibodies. Six patients had blasts which co-expressed markers for lymphoid and myeloid differentiation, and which were therefore defined as biphenotypic hybrid acute leukaemia. Of the six, three patients were in the paediatric age group (below 12 years old) while the other three were more than 12 years old. Peripheral blood counts were variable; however, bone marrow infiltration was extensive (blasts > or = 75% in all). At the time of study, remission was achieved in only two patients. The authors' data show that biphenotypic hybrid acute leukaemia is not rare in Malaysia. This represents a subgroup of acute leukaemia identifiable by immunophenotyping but not by the French-American-British classification based on morphological and basic cytochemical studies alone. The recognition of this subgroup is important for both practical and theoretical reasons. There are implications for treatment of the individual patient because treatment directed at a single lineage may not be effective. The two colour flow cytometry proved to be a useful tool for diagnosis and classification of acute leukaemia.
This was a descriptive study to assess parents' knowledge of epilepsy in their children at the Klinik Pakar Pediatrik in Universiti Kebangsaan Malaysia from 1.1.93-31.6.93. Factors that influence the level of knowledge were examined. Our hypothesis was that the level of knowledge was low and level of education and social factors were important. Fifty consecutive parents were interviewed during the clinic appointments. The questionnaire consisted of 25 questions which had been used in a survey on epilepsy in Australia. In order to cater for the local population the questions were modified by adding new questions pertaining to local situation. The results showed that 90% (45/50) of parents were unaware of the type of epilepsy their children were suffering from. 50% (25/50) of parents knew the underlying cause of epilepsy of which 32% (8/25) attributed it to brain disease, 8% (2/25) to birth defects and 10% (3/25) to fever. Factors such as duration of epilepsy, parental education and racial differences between Malay and other races (Chinese, Indians) did not reach any statistical significance (p > 0.05). 80% of patients (30/50) were on monotherapy. However, 90% (45/50) of parents were unaware of their children's medications. 82% of parents (31/50) knew that the anti-convulsants would only control their children's convulsions. Only 10% (8/50) of parents knew the acute management of seizures. Wrong practices such as inserting spoons (5/50) or massaging their limbs (17/50) during an acute attack were still common. 70% of parents (35/50) attended the follow-up clinics hoping that their children's epilepsy would be cured. Parents with low economic status and of children with duration of epilepsy of less than five years had been coming to the clinic regularly. (p = 0.01 and p = 0.02 respectively). In conclusion, the overall knowledge of these parents was poor. In order to improve the management of epilepsy, it is necessary to educate parents with reading materials and effective educational packages.
Study site: Paediatric clinic, Institut Pediatrik, Kuala Lumpur, Malaysia
Asthma and chronic obstructive pulmonary disease (COPD) are two common illnesses that cause significant morbidity and mortality. Steroids are widely used in both conditions. They act through steroid or glucocorticoid receptors (GR) causing up or down regulation of protein synthesis resulting in an increase in lipocortin 1 and beta 2 adrenergic receptors, and decreased levels and activities of cytokines or cytokine receptors, which reduces the inflammatory process in the airways and decreases bronchial hyperreactivity. Consequently symptoms of airway obstruction are alleviated and lung function is improved. In asthma, steroids have been convincingly shown to be effective in the treatment of both acute exacerbations and chronic condition. In COPD, however, only a subset of patients seem to respond favourably to steroid therapy. Therapeutic trials are therefore recommended before committing to a long-term treatment in order to determine this subset of patients, as no markers of steroid responsiveness can be identified. The inhaled steroids currently available have a good safety profile with significant side effects occurring only occasionally. Such side effects are usually confined to the oropharynx, causing local irritation, candidiasis and dysphonia, which can be easily overcome. Biochemical abnormalities involving bone, adrenal, carbohydrate and lipid profiles have been noted with high doses of inhaled steroids; however, these have no significant clinical effects.
One hundred and sixty seven (167) perforating eye injuries involving 159 patients were analyzed in a retrospective study over a three-year period. The degree of blindness and their associated factors were determined. Most patients were in the first three decades of life and were males. One hundred and seven (64%) eyes had vision of 3/60 or worse at initial assessment. Of these only 45% of eyes had improved vision to 6/36 or better at six months of follow-up. Fifty-five per cent of eyes were blind. The only significant associated factor identified was the extent of injury. Age, time interval and mechanism of injury were not significant factors.
The reactions of 117 parents to the febrile seizure experienced by their children; and their fears and worries were investigated. A standard questionnaire was used and clinical information was abstracted from the notes. In 88.9% of the cases, the adult present at the seizure was one of the parents usually the mother. Most of the parents (66.7%) did tepid sponging to bring the fever down but a third tried to open the clenched teeth of the child. The adults present placed the child supine in 62.9%, on the side in 9.5% and prone in 6.0%. Over half of the parents brought the child to a private clinic first before bringing to hospital. A fifth of the children were given antipyretics by the parent or the doctor and an anticonvulsant was given in 7.7% of cases. Interestingly, in 12% of children traditional treatment was given for the seizure. Three quarters of the parents knew that the febrile seizure was caused by high fever (which we have taken as the correct knowledge of febrile seizure). However "ghosts" and "spirits" were blamed as the cause of the seizure by 7% of parents. Factors significantly associated with correct knowledge were higher parental education and higher family income. The most common fear expressed was that the child might be dead or might die from the seizure (70.9%). Fear of death was associated with low paternal education. We concluded that the majority of our parents had reacted appropriately to a febrile seizure and their knowledge of the cause of febrile seizure was generally correct. Their fears and worries were similar to those elsewhere. However, traditional beliefs and practices may have to be taken into consideration during counselling.
A cross sectional study was conducted among 1007 children aged 1-2 years, from padi farming area. The percentage of male children was 51.4%. The prevalence of at least one of the chronic respiratory symptoms was 12.81%, and the prevalence of chronic cough, chronic sputum, wheezing and bronchial asthma as diagnosed by doctors were 9.33%, 3.87% 5.36% and 3.38% respectively. The overall prevalence of bronchial asthma was 6.26%. The prevalence of asthma was highest among children aged 11-12 years (8.9%) and higher among males (6.95%). No significant relationship was found between the prevalence of either chronic respiratory disease symptoms of bronchial asthma, and selected environmental factors, namely exposure to cigarette smoke, use of mosquito coil and wood stove. However there was a significant relationship between prevalence of asthma in children and history of asthma among parents and grandparents.
Study site: Two villages in Tg. Karang (Kg. Sawah Sempadan and Kg Sri Tiram Jaya), Selangor, Malaysia
Chronic mastoiditis and subperiosteal abscess are rarely seen nowadays in most countries. Thirty-four cases of mastoiditis were reviewed to find out the prevalence of chronic mastoiditis in the east coast of Malaysia. Twenty (58.82%) of these cases were a sequelae of chronic suppurative otitis media with cholesteatoma. All the patients with chronic mastoiditis were more than six years old. Forty-five percent of cases with chronic mastoiditis had a well pneumatized mastoid air cell on the unaffected side. The occurrence of chronic mastoiditis or cholesteatoma in a well pneumatized mastoid is not really as rare as was thought to be. X-ray of the mastoids is very useful in diagnosing patients with chronic mastoiditis and cholesteatoma. Mastoiditis is uncommon in adults and whenever a case is seen, an underlying pathology like cholesteatoma should be suspected.