Generally, the karyotype profile of Down Syndrome has been reported to be full trisomy 21 in 92% of patients, mosaic trisomy 21 in 4% of patients and translocation involving chromosome 21 in 4% of patients in most of the population groups worldwide. But, karyotype analysis of 149 DS patients at the Human Genome Center, USM, during the past five years revealed that free trisomy accounted for 94.6%, mosaic trisomy 21 for 4.7% and translocation involving chromosome 21 in 0.7% of the Down Syndrome etiology in North East Malaysian population, indicating a low frequency of translocation DS in this region. Here, we report one case of translocation Down Syndrome encountered during karyotype analysis of 149 DS cases. Karyotype showed a robertsonian translocation where an entire extra chromosome 21 was attached to the centromere of one of the chromosome 14, resulting in a derivative chromosome 14 with attached chromosome 21. Karyotype analysis of the parents revealed a normal 46,XY pattern for father and 46,XX pattern for mother indicating that this robertsonian translocation had arisen de novo either prior to or at conception.
Dengue haemorrhagic fever (DHF) is a severe viral illness with significant morbidity and mortality especially among children in Southeast Asia. The tourniquet test is recommended by the World Health Organisation (WHO) as an initial clinical screening procedure for patients suspected to have DHF, particularly in patients with DHF grade I. The aim of this study was to evaluate the validity of the tourniquet test as a predictor of DHF and also to assess the usefulness of repeated, serial tourniquet testing as a diagnostic indicator of DHF. Individuals included into this study were children from the Institute of Paediatrics, Kuala Lumpur who were admitted on a clinical suspicion of DHF based on the WHO criteria and who had serology for Dengue IgM performed. A standard method of tourniquet was performed on these patients on a daily basis following admission. A total number of 60 patients were considered for analysis and of these the tourniquet test was positive in 50 patients and negative in the remaining 10 patients. Sensitivity of the test was found to be 85.4% and the specificity was 25%. Further assessment of the predictive value of the test showed that the positive predictive value (PPV) was 82% while the negative predictive value (NPV) was 30%. In conclusion, a positive tourniquet test, serially performed on a daily basis was found clinically to be a useful preliminary screening tool for DHF as recommended by WHO. However its specificity was low and consequently led to a high false positive rate.
Endobronchial tuberculosis is an uncommon manifestation involving the tracheobronchial tree. The clinical presentation is typically non-specific. We report this unusual complication of pulmonary tuberculosis initially diagnosed as foreign body in a 16-month-old child.
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).
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.
Aspiration of a foreign body is rare in school-age children. This reports the 21-day journey of an 8-year-old girl who had a foreign body aspiration. She presented to our hospital after five days of respiratory distress. She subsequently required mechanical ventilation and was supported with triple inotropes. After 18 days, a foreign body was removed via rigid bronchoscopy, followed by a rapid recovery of the patient.
We report a rare case of a newborn baby girl who was delivered at 36 weeks of gestation with birth weight of 2680 grams and has ankyloblepharon filiforme adnatum with cleft lip and palate diagnosed at birth. The baby was managed with simple procedures of eyelid bands separation. We also reviewed the embryology of eyelid and its relation with ankyloblepharon formation and discussed the various syndromes and abnormality which may be associated with this eyelid abnormality. The four types of ankyloblepharon which was described by Rosenman and colleague is presented.
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
Subcutaneous fat necrosis is a recognised complication of hypothermia. There appears to be a resurgence in this condition when therapeutic hypothermia emerges as a standard of care for asphyxiated infants. The TOBY trial reported an incidence of 0.1% for 1239 infants cooled.(Copied from article)
A retrospective study was conducted to evaluate the magnitude, clinical course and risk factors of cholestasis in surviving very low birth weight (VLBW) infants who received parenteral nutrition at the neonatal intensive care unit (NICU) of Hospital Universiti Kebangsaan Malaysia. Cholestasis was defined as direct hyperbilirubinaemia of >34 mmol/L. Between 1St July 2000 to 31St March 2001, 58 VLBW infants received parenteral nutrition (PN). Forty seven infants survived to discharge. Complete data was obtained from 43 (90.1%) infants. Thirteen (30.2%) of these infants developed cholestasis. The cholestasis persisted beyond the age of 6 weeks in 8 infants and they underwent hepato imino diacetic acid (HIDA) scan. The HIDA scan was reported as normal in 2 infants and inconclusive in 6 infants. Operative cholangiography. (OTC) was then performed in these infants and were all normal. The cholestasis finally resolved in all infants. Analysis of risk factors revealed that duration of assisted ventilation and PN and the presence of patent ductus arteriosus (PDA) had significant correlation with the development of cholestasis. These factors together with lower mean gestational age increased the likelihood of persistent cholestasis beyond 6 weeks of life in these infants. In conclusion cholestasis is common in VLBW infants who received parenteral nutrition. Although the clinical course seems benign, in a significant proportion of these infants it may persist longer and put them at increased risk of requiring invasive investigations.
Thyroxine has been shown to have a beneficial effect on renal function in cases of impending renal failure in ani-mal studies.'5 Studies of the use of thyroxine in humans in impending renal failure are scarce. The aim of this study was to assess the effect of oral thyroxine on the renal function of asphyxiated term neonates who often have renal impairment.
A randomised control trial was conducted, involving 30 term asphyxiated neonates. The study group (n=15) was given thyroxine (50 pg) orally on days 1, 2 and 3 of life and placebo was given to the control group (n=15). Renal function was studied on day 1 and day 4 of life. The two groups did not differ significantly as regards gestational age, birth weight, severity of asphyxia, preg-nancy or delivery complications, fluids administered and drugs used. There was no significant difference in urine output, creatinine clearance and fractional excretion of sodium on day 1 but there was a trend towards a worse renal function on day 1 in the treatment group. The creatinine clearance was significantly better in the treat-ment group on day 4 (p = 0.017). Urine output and fractional excretion of sodium on day 4 were better in the treatment group but the differences did not reach statistical significance (p = 0.14 and 0.057 respectively). Statistical analysis on the differences between day 4 and day 1 showed statistical significance only for creatinine clearance: creatinine clearance day 4 minus creatinine clearance day 1 was 52.6 (±32.4) for the thyroxine group and 7.3 (±7.8) for the controls (p= 0.006).
These data support the hypothesis that thyroxine may have a significant beneficial effect on the renal function in term neonates with perinatal asphyxia. Thyroxine may be proven useful in future for patients with impending renal failure.
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.
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.
Adrenal hemorrhage (AH) is a relatively uncommon condition (0.55-1.9%) during the neonatal period [1]. The adrenal gland is vulnerable to haemorrhage because of its large size and high vascularity. Clinical features of AH are variable and nonspecific. AH in a newborn can present as anemia, hyperbilirubinemia, abdominal mass, painful swelling or hematoma of the scrotum, acute adrenal crisis or shock [2]. We report such a case of adrenal haemorrhage in a newborn.(Copied from article)
Background:Recent retrospective studies suggest irrelevance of urine screening for neonate with prolonged jaundice. We re-evaluated the incidence of urinary tract infection (UTI) among these infants, their renal outcome and evaluated the cost incurred. Methods: This is a prospective cohort study. Asymptomatic, prolonged jaundiced infants with unconjugated hyperbilirubinemia were screened for evidence of UTI as per local guidelines. Infants with pyuria would have urine sent for culture and sensitivity. Unit cost was referenced from hospital purchase. Statistical analysis was performed using SPSS 24.0. Results:A total of 291 cases were analyzed. Majority were term infants (93.8%). The commonest cause of prolonged jaundice was breast milk jaundice, hence an incidence rate of 0.34%. Only one infant persistently showed single uropathogen on urinary culture with concurrent pyuria. Urinary structures were normal on ultrasonography and there was no evidence of renal cortical scarring. No recurrence of UTI documented in the first year of life. Each “clean-catch” urinalysis costed RM7. This unit cost escalated to RM37 for catheterized sample. A negative urine culture costed RM28 while a positive culture twice this price. The average cost effectiveness ratio (ACER) in this study was RM5856.56 per detection of case. Conclusion: Incidence of UTI is low. In our study, an undesirable outcome is negligible. Unnecessary parental anxiety from the potentially laborious procedure could be avoided. This study refutes previous literature to include such screening in prolonged jaundice as this may well be irrelevant.
Clubfoot is associated with leg length inequality, with the affected leg being shorter as a consequence of the hypoplasia. Early treatment of a minimally hypoplastic clubfoot usually allows catchup growth and both legs equalise in length after a few years. Late treatment however is associated with a shortening of the affected foot. A case is described where late treatment of a severe clubfoot is assocated with lengthening of the affected leg.
It is very rare indeed in the practice of children's orthopaedics today in Malaysia that the natural history of long bone osteomyelitis is seen. A case is presented where a shoulder abscess in a 3-year-old child developed into septic arthritis of the shoulder and subsequently chronic osteomyelitis of the adjacent humerus. The parents refused active surgical debridement and sequestrectomies. Three years later the child had regenerated a new humerus over the sequestra. Radiographs are presented illustrating the entire natural history of osteomyelitis with the regeneration of a new humerus.
Introduction: There are many factors that determine the survival of patients with VSD. Among these include size of VSD, position, pulmonary hypertension, bacterial sepsis, valvular involvement, associated anomalies with VSD, associated syndromes and age at first diagnosis. There has been no published local data as far as we know and this information will be useful especially for consultation with parents. Even though VSD in general has a good prognosis, whenever they have added risks for example pulmonary hypertension then they are at risk of further morbidity and mortality. Objective: To determine the factors that are associated with survival of patients with VSD. Design: Retrospective cohort. Materials and methods: All cases of isolated VSDs admitted to HUSM from 1996 to 2003 were reviewed. Results: Univariate Cox regression of survival time of patients with VSDs revealed that 4 factors had prognostic significance namely bacterial sepsis (HR= 287.7, 95% CI 51.1, 1618.5, P < 0.001), Down syndrome (HR = 14.89, 95% CI 3.00, 73.92, P = 0.001), pulmonary hypertension (HR=14.58, 95% CI 1.69, 125.7, P=0.015) and large VSDs (HR=8.23, 95% CI 1.5, 45, P=0.015). Bacterial sepsis was the only significant prognostic factors for the survival of patients with VSDs using the multivariate Cox proportional hazard model. Conclusion: Bacterial sepsis, pulmonary hypertension, large VSD and Down syndrome were the significant prognostic factors from Univariate Cox analysis, however bacterial sepsis was the only significant prognostic factor from Multivariate Cox analysis.
Objective: This study aimed to determine the prevalence of anaemia in children aged six months to fifteen years old treated in a single centre from 2008 to 2018. Methods: A retrospective study was conducted among 274 children age six months to fifteen years old, treated in Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia (USM) from 2008 to 2018. The data was obtained from computerised hospital data (CARE2X), Laboratory Information System (LIS) or medical record. Parents of the eligible participants were called for any incomplete data and verbal consents were obtained. Descriptive analysis was conducted to determine the prevalence whereas the relationship between independent variables with types of anaemia were examined using simple logistic regression. Results: The prevalence of anaemia was 22.3%. Among the anaemic children, the predominant morphology form was hypochromic microcytic anaemia (82%) followed with normochromic normocytic anaemia (18%). Iron deficiency anaemia (IDA) was found to be the commonest cause (24%) of hypochromic microcytic anaemia, followed by IDA with concomitant thalassaemia (14%) and thalassaemia alone (8%). In simple logistic regression analysis, no significant association was found. Conclusions: The prevalence of anaemia was 22.3%, which is considered as moderate public health problem according to WHO. Hypochromic microcytic anaemia was the predominant red cell morphology (82%) and IDA was the commonest causes (24%).
Background: A 9 year old boy presented with history of persistent headache and recurrent vomiting for 1 month post dental extraction. CT brain was performed for the possibility of space occupying lesion but it was normal. Subsequently, he was treated as migraine after exclusion of meningitis and intracranial lesion. Unfortunately, he developed 3rd, 4th and 6th cranial nerve palsy two weeks later. Repeated CT brain showed subtle finding and inconclusive. MRI brain performed at the time showed features suggestive of basal skull osteomyelitis with congestion of right orbit and optic nerve swelling. Case was referred to Paediatric Neurologist and he was diagnosed to have cranial nerve palsy secondary to basal skull osteomyelitis, post dental extraction.
Conclusion: Dental procedure is common among children, however basal skull osteomyelitis with cranial nerve palsy is a rare complication. Adequate treatment of dental infection post dental procedure is important to prevent this complication.