The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that Cornelia de Lange syndrome is caused by mutations in the NIPBL gene, the human homologue of the Drosophila Nipped-B gene. Here, we present the first clinical case report of a Malay child, a 9-year-old boy with the Cornelia de Lange syndrome. We also report the molecular investigation of the NIPBL gene in this patient.
Samples from 378 Chinese and 259 Malay blood donors in Singapore have been studied for electrophoretic variants in 13 red cell enzyme systems and for abnormal haemoglobins. Variants were detected in 8 of the enzyme systems, and the frequencies were polymorphic for acid phosphatase, 6 phosphogluconate dehydrogenase phosphoglucomutase (locus 1) among both Chinese and Malays, and for adenylate kinase also among Malays. Rare variants were detected in the phosphohexose, NADH diaphorase and lactate dehydrogenase systems. A new GPGD phenotype and three new LDH phenotypes have been described. Electrophoretic variants of haemoglobin were more frequent among Malays than among Chinese.
This study aimed to identify the risk factors associated with necrotising enterocolitis (NEC) in very low birth weight (VLBW; weight < 1,501 g) infants in Malaysian neonatal intensive care units (NICUs).
This case-control study aimed to determine whether catheter use was significantly associated with coagulase-negative staphylococci (CoNS) colonisation and/or sepsis in neonates.
This study aimed to determine the proportions of normothermic infants who remained normothermic, and hypothermic infants who became normothermic following the use of a heated water-filled mattress (HWM) in the labour room.
This study aimed to determine whether patient loads, infant status on admission and treatment interventions were significantly associated with inter-institutional variations in sepsis rates in very-low-birth-weight (VLBW) infants in the Malaysian National Neonatal Registry (MNNR).
The aim of this study was to compare the response and survival rates of term infants with persistent pulmonary hypertension of the newborn (PPHN) on high frequency oscillatory ventilation (HFOV) treated with either inhaled nitric oxide (iNO) or intravenous magnesium sulphate (MgSO4).
INTRODUCTION: This study aimed to determine the prevalence of obesity among medical students and its relationship with their dietary intake and physical activities.
METHODS:This observational study was carried out on 240 medical students during the clinical phase of their medical course in a private medical school. Their body weight and height were measured, and a standardised questionnaire was used to collect information on their physical activities and dietary intake.
RESULTS: The median body weight of the participants was 59.0 kg (interquartile range: 51.3-66.8), the mean body height was 166.1 cm (standard deviation [SD] 8.5 cm), and the mean body mass index (BMI) was 21.8 kg/m2 (SD 3.4 kg/m2). Based on the World Health Organization BMI cut-offs for the Asian population, 30.1 percent (n is equal to 72) of the students were overweight or obese, with a BMI that was equal to or greater than 23.0 kg/m2. Logistic regression analysis showed that, after controlling for various potential confounders, the only significant risk factors associated with overweight/obesity among these students were: male gender (adjusted odds ratio [OR] 2.1; 95 percent confidence intervals [CI] of 1.1 and 4.1; p is equal to 0.03), Malay ethnic group (adjusted OR 2.4; 95 percent CI 1.0 and 5.7; p is equal to 0.04), Indian ethnic group (adjusted OR 3.6; 95 percent CI 1.5 and 8.9; p is equal to 0.005), and the number of soft drinks consumed per week (adjusted OR 1.3; 95 percent CI 1.0 and 1.5; p is equal to 0.02). Skipping breakfast, the frequency of physical exercise per week, the number of hours of sleep per day, and eating noodles or roti canai (a type of Malaysian pancake) for breakfast were not significant risk factors.
CONCLUSION: Obesity remains a common problem among medical students in their clinical years.
This study was designed to compare the sensitivity and specificity of detecting sensorineural hearing loss (SNHL) using the transient-evoked otoacoustic emissions (OAE) machine (the Madsen TE Echoscreen) and automated auditory brainstem response (AABR) machine (the Sabre Compac portable AABR) in term neonates exposed to severe hyperbilirubinaemia.
This study was designed to determine the sensitivity and specificity of a semi-quantitative procalcitonin (PCT) test kit for the diagnosis of neonatal sepsis.
The neonatal resuscitation programme (NRP) published by the American Academy of Paediatrics and American Heart Association was launched in Malaysia in 1996. This study aimed to review the outcome of NRP in Malaysia during the first eight years.
Introduction: The aim of this study was to determine predictors of failed closure of patent ductus arteriosus (PDA) following a single course of indomethacin in symptomatic preterm infants.
Methods: This prospective observational study was carried out on 60 preterm infants weighing less than 1,750 g with symptomatic PDA confirmed by echocardiography. At a median age of 7.0 days (interquartile range 4.0), they were given indomethacin of 0.1 mg/kg/day intravenously daily for six days. Closure of PDA was reassessed by echocardiography upon completion of therapy.
Results: The PDA of 40 percent (n=24) of these infants remained patent. Forward logistic regression analysis showed that the only significant predictors of failed PDA closure in these infants were: PDA size (adjusted odds-ratio [OR] is 7.0; 95 percent confidence interval [CI] of OR is 2.0, 24.8; p-value is 0.002), birth weight (adjusted OR is 0.996; 95 percent CI of OR is 0.993, 1.000; p-value is 0.03) and platelet count (adjusted OR is 0.987; 95 percent CI is 0.975, 1.000; p-value is 0.045). Gestational age, maternal age and left atrium/aorta ratios were not significant predictors.
Conclusion: Larger PDA, lower birth weight and lower platelet count were significant predictors of high failure in indomethacin therapy given late at one week of life.
This study aimed to compare the core, abdominal wall, and plantar temperatures of well jaundiced term infants undergoing phototherapy with or without clingfilm covering the lower two-thirds of the upper end of their bassinets.
A cross-sectional study was carried out on 8,478 consecutive normal singleton Malaysian neonates born in the Maternity Hospital, Kuala Lumpur. The objectives were to compare the mean birth-weights, crown-heel lengths and head circumferences of Malay, Chinese and Indian infants at gestation age from 28 to 42 weeks, and to construct the Malaysian growth charts. Above the gestation age of 34 weeks, the birthweights were significantly influenced by maternal gravida status (p < 0.03), ethnic origin (p < 0.001) and/or sex of the neonates (p < 0.026). Above this gestation age, neonates of multigravida mothers were significantly heavier than those of primigravida mothers; Indians were significantly lighter than Malays and Chinese; and males were significantly heavier than females. The head circumferences and body lengths of neonates were significantly influenced by ethnic origin, sex and/or maternal gravida status at gestation above 35 and 36 weeks respectively (p < 0.05). It was most likely due to the small sample size which explained our inability to detect statistically significant difference in all measurements (birthweight, length and head circumference) by sex, ethnicity and maternal gravida status at gestation below 35 weeks. Based on the measurements obtained in this study, percentile charts for the Malaysian population were constructed and made available for the first time. These charts will be useful for the assessment of Malaysian neonates during the perinatal period.
Between January 1989 to April 1990 (16 months), a prospective observational study was carried out on 329 consecutive very low birthweight (VLBW) less than or equal to 1500 grams) Malaysian neonates born in the Maternity Hospital, Kuala Lumpur before their first discharge from the hospital. The objectives of the study were to determine the common causes of early morbidity and mortality of this group of Malaysian neonates. The study shows that the incidence of Malaysian VLBW neonates was 9.9 per 1000 livebirths (95% confidence intervals 9.0 to 10.8). The mean duration of stay in the hospital was 19.3 days (SD = 21.4). One hundred and ninety-six (59.6 percent) of the VLBW neonates died. They accounted for 60 percent (196/334) of all neonatal deaths in the hospital during the study period. Mortality was significantly higher in neonates of birthweight less than 1000 grams (p less than 0.01) and of gestation of less than 33 weeks (p less than 0.001). The three most common clinical problems were respiratory distress syndrome (RDS) (72.6 percent), septicemia (28.0 percent) and intraventricular haemorrhage (IVH) (21.9 percent). Death occurred in 71.1 percent of the septicemic patients. The most common causative organisms of septicemia were multiresistant klebsiella (52.3 percent) and multiresistant acinetobacter (14.7 percent). RDS (33.2 percent), septicemia (29.6%) and IVH (17.9 percent) were the three most common causes of death. Improvement in the nursing staff situation and basic neonatal care facilities in this hospital and prevention of premature delivery could help to decrease morbidity and mortality in this group of neonates.
In a 30-month prospective study, between January 1987 and June 1989, 101 of 64,424 Malaysian neonates (1.6 per 1000 livebirths) born in the Maternity Hospital, Kuala Lumpur were found to have subaponeurotic haemorrhage shortly after delivery. The incidence was highest in neonates weighting 4000 gm or more. There was no significant difference in incidence of this condition in neonates of different ethnic origins. Hypoprothrombinemia was present in only 5/101 (5.0%) of the affected neonates. Sixty seven (66.3%) of the neonates with subaponeurotic haemorrhage had history of trial of vacuum extraction. The incidence of subaponeurotic haemorrhage was significantly higher in neonates delivered by vacuum extraction than by other modes of delivery in this hospital (41.4 per 1000 livebirths in neonates delivered by vacuum extraction versus 1.0 per 1000 livebirths in neonates delivered by other modes). Those neonates who developed subaponeurotic haemorrhage without trial of vacuum extraction had a history of either prolonged labour or difficult delivery. Thirty-three (32.7%) of the neonates with subaponeurotic haemorrhage developed anaemia which required blood transfusion and 3/33 (9.1%) were in shock. Fifty seven (56.4%) of the neonates with subaponeurotic haemorrhage developed hyperbilirubinemia due to the haemorrhage. Four (7.0%) of them had severe unconjugated hyperbilirubinemia which required exchange transfusion. The results of this study suggest that subaponeurotic haemorrhage in Malaysian neonates was commonly associated with vacuum extraction and was not a benign condition.
A study was carried out on 8,369 neonates delivered in the Maternity Hospital, Kuala Lumpur over a period of four months. Forty-nine neonates (5.6 per 1000 livebirths) had congenital talipes. The incidence of congenital talipes equinovarus (CTEV) was 4.5 per 1000 livebirths while that of congenital talipes calcaneovalgus (CTCV) was 1.3 per 1000 livebirths. 6/11 (54.5%) of the CTCV was unilateral, the ratio of right to left feet involvement being 1:1. Only 12/38 (31.5%) of the CTEV were unilateral, the ratio of right to left feet involvement being 1:2. Congenital talipes was significantly more common in the low birthweight neonates (p less than 0.001). However, the condition was not significantly more common in neonates with breech presentation nor in those born to primigravida mothers. Our data suggested that multifactorial genetic background as the most likely underlying cause of congenital talipes in Malaysian neonates.
Over a 21-month period, 108 of 45,770 neonates born in the Maternity Hospital, Kuala Lumpur, developed necrotising enterocolitis (NEC). The incidence of NEC was 2.4 per 1000 livebirths or 2.7 per 100 special care nursery (SCN) admissions in this Hospital. There was no significant difference in the incidence between the sexes or among the different races. NEC was most common (9.4%) in the very low birthweight (VLBW: neonates weighing less than 1500 grams) and the preterms of less than 34 week gestation (8.4%). 54.6% of the patients developed the condition during the first week of life. NEC occurred throughout the year in our nursery with clustering of cases intermittently. The case fatality ratio of the condition was 28.7%. NEC accounted for 5.7% of our Hospital's neonatal (less than 28 days of life) and postneonatal (greater than or equal to 28 days of life) deaths. There was no significant difference in the rates of occurrence of placental praevia, prolonged rupture of amniotic membranes, maternal pregnancy-induced hypertension, birth asphyxia, apnoea, respiratory distress, patent ductus arteriosus and exchange blood transfusion in neonates with NEC and those in the control group. Our findings on Malaysian neonates were comparable with those reported in the literature on neonates in developed countries.
A prospective study was carried out in the Maternity Hospital, Kuala Lumpur over a 2-year period. During this time, 52,379 deliveries took place. 36 neonates (0.7 per 1000 births) were found to have congenital dislocation of the hips (CDH) by both the Ortolani and Barlow's manoeuvre. CDH was most common in the females (female to male ratio was 2.3:1), the first borns (50% of the affected cases) and babies who had breech delivery (10.7 per 1000 births). In 21 (58.3%) of the affected neonates, CDH occurred in both hips. According to the classification of newborn infants' hips by Finlay et al, 88.9% of the neonates had unstable hips while 8.3% had pathological hips. Family history of CDH was present in 5% of the patients. 8 (22.2%) of the neonates had other associated congenital abnormalities.