A number of genetic risk factors have been implicated in the development of neonatal severe hyperbilirubinaemia. This includes mutations in the uridine glucoronosyl transferase 1A1 (UGT1A1) gene which is responsible for unconjugated hyperbilirubinemia in Gilbert's Syndrome. We studied the prevalence of UGT1A1 gene mutations in a group of Malay neonates to determine whether they are risk factors to severe neonatal jaundice. One hundred and twenty-five Malay neonates with severe hyperbilirubinemia were studied. Ninety-eight infants without severe hyperbilirubinaemia were randomly selected from healthy Malay term infants (controls). DNA from EDTA cord blood samples were examined for UGT1A1 mutations nt211G > A and nt247T > C using established Taqman SNP genotyping assays and the UGT1A1*28 variant was detected by the Agilent 2100 bioanalyzer. All samples were also screened for common Malay G6PD variants using established techniques. The frequency of UGT1A1 211G > A mutation is significantly higher in the severely hyperbilirubinemic group (13%) than the control group (4%; p = 0.015) and all the positive cases were heterozygous for the mutation. There was no significant difference in the frequency of UGT1A1*28 mutation between the severely hyperbilirubinemic (3.5%) and the control group (0.01%; p = 0.09). None of the neonates in both groups carried the nt247 T > C mutation. The prevalence of G6PD mutation was significantly higher in the severely jaundiced group than control (9% vs 4%; p = 0.04). In conclusion, nt 211 G > A alleles constitute at least 12% of UGT1A1 mutations underlying unconjugated hyperbilirubinemia and appears to be a significant independent risk factor associated with severe neonatal hyperbilirubinemia in the Malay newborns.
Enterovirus type 71 (EV71) is a causative agent of large outbreaks of hand, foot, and mouth disease (HFMD) in Europe (Bulgaria, 1975; Hungary, 1978) and South-East Asia (Malaysia, 1977; Taiwan, 1998; Singapore, 2000-2007; People's Republic of China, 2007-2009). HFMD afflicted children less than 10 years of age and resulted in recovery within 3-7 days. In a small percentage of infants (aged 6 months to 3 years), HFMD was accompanied by acute neurological complications, such as serous meningitis, poliomyelitis-like syndrome (extremity pareses and muscle paralyses); brain stem encephalitis (myoclonic jerks, tremor, lethargy, swallowing and speech disorders, cardiopulmonary failure, pulmonary edema, shock, coma, death). X-ray study revealed pulmonary hemorrhages and edema. Mortality rates were as high as 82-94% in severe cases. Incapacitating motor, respiratory, and psychoemotional disorders persisted in some surviving children. Pathomorphologically, patients with central nervous system disease and cardiopulmonary failure were found to have acute inflammation of the grey matter of the brain stem (medulla oblongata, pons) and spinal cord. Inflammatory changes in the lung and myocardial tissues were negligible or absent. Fatal pulmonary edema was neurogenic in origin and resulted from damage to the respiratory and vasomotor centers of the brain stem.
Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder late-onset form. We investigated patients with hyperammonemia by a stepwise approach in which quantitative amino acids analysis was the core diagnostic procedure. Here, we describe the clinical phenotypes and biochemical characteristics in diagnosing this group of patients. We have identified 13 patients with argininosuccinic aciduria from 2003 till 2009. Ten patients who presented with acute neonatal hyperammonemic encephalopathy had markedly elevated blood ammonia (> 430 micromol/L) within the first few days of life. Three patients with late-onset disease had more subtle clinical presentations and they developed hyperammonemia only during the acute catabolic state at two to twelve months of age. Their blood ammonia was mild to moderately elevated (> 75-265 micromol/L). The diagnosis was confirmed by detection of excessive levels of argininosuccinate in the urine and/or plasma. They also have moderately increased levels of citrulline and, low levels of arginine and ornithine in their plasma. Two patients succumbed to the disease. To date, eleven patients remained well on a dietary protein restriction, oral ammonia scavenging drugs and arginine supplementation. The majority of them have a reasonable good neurological outcome.
This was a cross-sectional study to determine the prevalence and characteristics of mother-infant bed-sharing practice in Klang district, Malaysia. Data was collected by face-to-face interview using a structured questionnaire for a four month period in 2006. A total of 682 mother-infant pairs attending government health clinics were included in the study. Data regarding socio-demographic characteristics of the mothers, information on the infants, bed-sharing and breastfeeding practices were collected. The mean maternal age was 28.4 +/- 5.1 years while the mean infant gestational age was 38.8 +/- 1.8 weeks. The study showed the prevalence of bed-sharing was 73.5% (95% CI: 70.0, 76.7). In multivariate analysis; area of interview, maternal occupation, family income, breastfeeding and infant birth weight were associated with bed-sharing after adjusted for maternal ethnicity, age, marital status, educational level, parity, infant gender and infant gestational age. In conclusion, bed-sharing is a common practice in Klang district, Malaysia, not specific to ethnicity, but strongly associated with low family income and breastfeeding.
To evaluate the perinatal outcome of premature babies according to the mode of delivery. A total of 113 pregnant women and 124 neonates who delivered from 30 to 35 weeks of gestation were enrolled and outcomes of 70 neonates born vaginally were compared to 54 neonates born by caesarean. Neonatal mortality rate was 20 percent for infants in caesarean group as compared to 10 percent for vaginal group. There was no significant difference in the neonatal morbidity among both the groups. Caesarean delivery cannot be routinely recommended, unless there are obstetric indications.
Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of specific lysosomal enzymes involved in glycosaminoglycans (GAGs) degradation. Currently, there are 11 enzyme deficiencies resulting in seven distinct MPS clinical syndromes and their subtypes. Different MPS syndromes cannot be clearly distinguished clinically due to overlapping signs and symptoms. Measurement of GAGs content in urine and separation of GAGs using high-resolution electrophoresis (HRE) are very useful initial screening tests for isotyping of MPS before specific enzyme diagnostics. In this study, we measured total urinary GAGs by a method using dimethylmethylene blue (DMB), and followed by isolation and separation of GAGs using high resolution electrophoresis (HRE) technique. Of 760 urine samples analyzed, 40 have abnormal GAGs HRE patterns. Thirty-five of these 40 cases have elevated urinary GAGs levels as well. These abnormal HRE patterns could be classified into 4 patterns: Pattern A (elevated DS and HS; suggestive of MPS I, II or VII; 16 cases), Pattern B (elevated HS and CS; suggestive of MPS III; 17 cases), and Pattern C (elevated KS and CS; suggestive of MPS IV, 5 cases), and Pattern D (elevated DS; suggestive of MPS VI; 2 cases). Based on the GAGs HRE pattern and a few discriminating clinical signs, we performed selective enzymatic investigation in 16 cases. In all except one case with MPS VII, the enzymatic diagnosis correlated well with the provisional MPS type as suggested by the abnormal HRE pattern. Our results showed that GAGs HRE is a useful, inexpensive and practical first-line screening test when MPS is suspected clinically, and it provides an important guide to further enzymatic studies on a selective basis.
This study aimed to determine the risk factors associated with the development of pneumothorax among infants admitted to the Malaysian neonatal intensive care units (NICUs).
This paper presents a new application of the Particle Swarm Optimization (PSO) algorithm to optimize Mel Frequency Cepstrum Coefficients (MFCC) parameters, in order to extract an optimal feature set for diagnosis of hypothyroidism in infants using Multi-Layer Perceptrons (MLP) neural network. MFCC features is influenced by the number of filter banks (f(b)) and the number of coefficients (n(c)) used. These parameters are critical in representation of the features as they affect the resolution and dimensionality of the features. In this paper, the PSO algorithm was used to optimize the values of f(b) and n(c). The MFCC features based on the PSO optimization were extracted from healthy and unhealthy infant cry signals and used to train MLP in the classification of hypothyroid infant cries. The results indicate that the PSO algorithm could determine the optimum combination of f(b) and n(c) that produce the best classification accuracy of the MLP.
Two previously healthy Malaysian women presented abruptly with severe diabetic ketoacidosis during pregnancy and immediate postpartum period. Their clinical courses, biochemical and immunological profiles were consistent with fulminant type 1 diabetes first described in the Japanese. Fulminant type 1 diabetes may not be as rare as currently reported outside Japan.
Occlusive plastic applied immediately after birth to reduce evaporative heat loss has been proven effective in preterm infants <28 weeks' gestation. However its effectiveness on preterm infants >28 weeks' gestation has not been shown. This study aimed to determine the effect of occlusive wrap at birth on the temperature at neonatal intensive care unit (NICU) admission among infants of greater than or equal to 24 weeks' and less than 34 weeks' gestation.
Acoustic analysis of infant cry signals has been proven to be an excellent tool in the area of automatic detection of pathological status of an infant. This paper investigates the application of parameter weighting for linear prediction cepstral coefficients (LPCCs) to provide the robust representation of infant cry signals. Three classes of infant cry signals were considered such as normal cry signals, cry signals from deaf babies and babies with asphyxia. A Probabilistic Neural Network (PNN) is suggested to classify the infant cry signals into normal and pathological cries. PNN is trained with different spread factor or smoothing parameter to obtain better classification accuracy. The experimental results demonstrate that the suggested features and classification algorithms give very promising classification accuracy of above 98% and it expounds that the suggested method can be used to help medical professionals for diagnosing pathological status of an infant from cry signals.
To successfully initiate and maintain breastfeeding for a longer duration, the World Health Organization's Ten Steps to Successful Breastfeeding recommends total avoidance of artificial teats or pacifiers for breastfeeding infants. Offering the pacifier instead of the breast to calm the infant may lead to less frequent episodes of breastfeeding and as a consequence may reduce breast milk production and shorten duration of breastfeeding; however, this remains unclear.
We describe a chromosome 6 uniparental disomy (UPD6) in a boy, discovered during a screening for the genetic cause of cleft lip and palate. In the medical literature, almost all documented cases of UPD6 are paternal in origin, and only four were maternal. We present here a report of complete maternal chromosome 6 uniparental heterodisomy. Haplotype analysis was performed using highly polymorphic short tandem repeat (STR) markers that span both arms of chromosome 6. Analysis of these markers revealed the presence of two maternal alleles but no paternal allele, indicating an instance of maternal uniparental heterodisomy. Chromosome analysis of peripheral blood lymphocytes confirmed a normal male karyotype. Advanced maternal age at the time of the infant's birth and heterodisomy of markers around the centromere favors a meiosis-I error. No specific phenotype has been reported for maternal UPD6. Therefore, the cleft lip and palate in the present case probably occurred due to other risk factors. This report provides further evidence that maternal UPD6 has no specific clinical consequences and adds to the collective knowledge of this rare chromosomal finding.
Neonatal neoplasms are rare tumours notorious for their atypical presentation and unpredictable behaviour. Their optimal treatment remains uncertain, a dilemma compounded by the deleterious effects of adjuvant chemo- or radiotherapy during this vulnerable period of growth. This paper examined the relatively high incidence of these tumours and its impact on paediatric surgery in Malaysia.
The aim of the present study was to compare, in a case-control study, the prevalence of nucleotide 211 guanine to adenine (G-->A) mutation of uridine diphosphoglucuronosyl transferase (UGT1A1) gene in Malaysian Chinese newborns with and without severe hyperbilirubinemia (total serum bilirubin >250 micromol/L during first 48 h of life or > or =300 micromol/L thereafter), and to determine whether this mutation was a significant risk factor associated with severe hyperbilirubinemia.
We aimed to determine the epidemiology and burden of rotavirus (RV) gastroenteritis (GE) in children requiring hospital care in an urban setting in Sabah, Malaysia. A prospective study of all patients younger than 12 years of age admitted with acute GE to Queen Elizabeth Hospital, Sabah, over a six-month period (October 2005 to March 2006) was conducted. During the study period, a total of 167 children with acute GE who had stool samples examined for RV were studied. RV accounted for 16% of all diarrhoeal cases, and 1.7% of all admissions to the children's wards during the study period. There was no difference in severity of GE between RV and non-RV groups. RV infection is a common cause of childhood GE requiring hospital care in Sabah.
We reviewed cases of candidaemia at Universiti Kebangsaan Malaysia Medical Centre from 1st January 2005 to 30th June 2006. All blood cultures positive for Candida species or its teleomorphs within the study period were identified and antifungal susceptibility testing was performed. Out of 50 blood isolates, 20 (40%) were identified as Candida albicans, 16 (32%) C. tropicalis, five (10%) C. parapsilosis, three (6%) C. famata, two (4%) C. glabrata, two (4%) Pichia ohmeri, one (2%) C. krusei and one (2%) P. etchell/carsonii. Susceptibility to amphotericin B was 100%, fluconazole 90%, itraconazole 40%, ketoconazole 88%, 5-flucytosine 98% and voriconazole 98%.
The importance of universal newborn hearing screening (UNHS) in identifying hearing-impaired infants as early as possible is already well recognized. Transient evoked otoacoustic emissions (TEOAE) have been established as a reliable method for UNHS in full term infants. This is a cross sectional study between April 2003--December 2005. Thirteen thousand five hundred and ninety eight (13,598) newborns were screened for hearing loss with portable otoacoustic emission (OAE) before discharge. The initial coverage rate during the 3 years study period was 85.9% (13,598) with 89.2% (3762), 79.0% (4480) and 90.3% (5356) for 2003, 2004 and 2005 respectively. The mean age when hearing loss was diagnosed using ABR were 3.56 months old, 3.08 months old, and 2.25 months old and 3.01 months old for 2003, 2004, 2005 respectively and it was statistically significant. The defaulter rate at the third stage during the 3 years study period was 35% (21), 15.2% (7) and 18.2% (2) for 2003, 2004 and 2005 respectively. This study showed significant improvement in initial referral rate, coverage rate and age of diagnosis. However, we need to improve on high defaulter rates.