A 37-week gestation male boy was born to a gravida seven para six mother by spontaneous vertex delivery at home. The baby cried at birth. On day 3 of life, he was admitted for respiratory distress. Physical examination revealed ectrodactyly, thin dry skin, anomalous tear duct with cardiomegaly. X-ray revealed absent radii, cardiomegaly and hemivertebra at L1. Echocardiogram revealed perimembranous type of ventricular septal defect. A diagnosis of Ectodermal Dysplasia Ectrodactyly Clefting Syndrome with ventricular septal defect was made. He was managed conservatively in the nursery. However, he expired on day 27 of life following short spell of fever apnoeic episode due to neonatal sepsis.
Rett syndrome (RS) is a severe neurodevelopmental disorder characterised by normal neurological development followed by progressive developmental regression. The X-linked dominant inheritance of RS has been mapped to the gene that encodes the methyl-CpG-binding protein-2 (MECP2) at Xq28. In the present study, denaturing high-performance liquid chromatography (DHPLC) was used to detect mutations in the MECP2 gene in 20 Malaysian RS patients.
We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial CCR involving chromosomes 7, 12 and 14. The balanced form of this familial CCR was also carried by the patient's mother and maternal grandmother, both of whom had a history of recurrent spontaneous abortions, as well as his maternal uncle, who was infertile. To the best of our knowledge, this is the first reported case of familial CCR involving chromosomes 7, 12 and 14. This case also highlights the importance of chromosomal analysis in children with dysmorphism and developmental delay as well as in adults who suffer from recurrent spontaneous abortions or infertility.
Patients on a moderate red cell transfusion programme have iron overload where the concentrations of the serum ferritin were inappropriate to increases in the transfusion load as a result of limitations of apoferritin synthesis and conversion of ferritin into haemosiderin. This study confirms the limitations for the use of estimations of the serum ferritin to evaluate the iron status in patients with expected high overload as would be seen in patients on many years of maintenance red cell transfusions in the absence of iron chelation therapy. Poor compliance, inadequate dosage of Desferal (deferoxamine), and the late initiation of iron chelation therapy were factors that were considered in the patients with failure of response to iron chelation.
The case histories of 22 patients with lung abscess and empyema presenting to Hospital University Sains Malaysia (HUSM) between 1984 and 1989 are reviewed. The presenting features of both lung abscess and empyema were similar. The commonest predisposing factor was pneumonia, and the commonest organism isolated was Staphylococcus aureus but in the majority of cases, no causal organisms were identified. All the patients were treated with antibiotics and in addition, closed chest tube drainage was performed initially in all patients with empyema. Three patients with empyema required additional surgical drainage procedures. Death occurred in one patient with empyema and in one patient with lung abscess. The features, aetiology, treatment and outcome of thoracic empyema and lung abscess are discussed.
216 patients were found to have had surgery for urinary calculi In a retrospective analysis of surgical records of the two general hospitals in Kelantan over a two year period. Excluding 11 patients from Terengganu and 2 patients resident in Kelantan for less than 1 year, this amounts to an annual incidence for calculus surgery of 10 per 100,000 residents per year. Lower urinary tract (LT) calculi (143) were more common than upper urinary tract (UT) calculi (71). There was an overwhelming majority of males among patients operated on for LT calculi (ratio of males:females = 1.2:1). The mean age of patients with UT calculi was 44 years, while that of LT calculi was 51 years.
Out of 52,379 babies delivered in the Maternity Hospital, Kuala Lumpur, over a 2-year period, 64 were born with cleft lip and/or palates. The rate of occurrence of cleft was 1.24 per 1000 livebirths or 1.20 per 1000 deliveries. The Chinese babies had the highest incidence (1.9 per 1000 deliveries) while the Malays had the lowest (0.98 per 1000 deliveries). The most common type was unilateral cleft of the primary and secondary palates. Among the Indian babies, cleft of the secondary palate was most common. 18.8 percent of all the affected babies had positive family history of cleft. 10.9% of the mothers of affected babies had positive history of drug ingestion especially Chinese herbs during pregnancy. Associated congenital abnormalities occurred in 15.6% of the babies with cleft lip and/or palate.
Preoperative anaemia is common in the Asia-Pacific. Iron deficiency anaemia (IDA) is a risk factor that can be addressed under patient blood management (PBM) Pillar 1, leading to reduced morbidity and mortality. We examined PBM implementation under four different healthcare systems, identified challenges and proposed several measures: (a) Test for anaemia once patients are scheduled for surgery. (b) Inform patients about risks of preoperative anaemia and benefits of treatment. (c) Treat IDA and replenish iron stores before surgery, using intravenous iron when oral treatment is ineffective, not tolerated or when rapid iron replenishment is needed; transfusion should not be the default management. (d) Harness support from multiple medical disciplines and relevant bodies to promote PBM implementation. (e) Demonstrate better outcomes and cost savings from reduced mortality and morbidity. Although PBM implementation may seem complex and daunting, it is feasible to start small. Implementing PBM Pillar 1, particularly in preoperative patients, is a sensible first step regardless of the healthcare setting.
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.
Areca catechu (betel) nut is widely used as a chewing agent. The nut alkaloids have been implicated in the pathogenesis of oral precancerous lesions. Quantitative analysis of the chloroform extracts by gas-liquid chromatography of ten commercial nut samples from Bombay have shown a wide variations In their arecoline contents (0% - 1.4%; mean: 0.7%). Nut samples of Identical processing method also vary in their arecoline levels. These variations were suggested to be due to the difference In the raw materials and processing methods. Comparisons were made between the arecoline contents and the Incidence of oral precancerous lesions from the present studies and also from those of Kerala and Mysore. It was concluded that the difference in nut arecoline contents not only reflect their appeal, potency but also influence upon the incidence of these diseases.
Gestational hypertension (GH) is a common disorder during pregnancy that can progress to preeclampsia and cause various subsequent fatal complications. A cluster of enzymes, called matrix metalloproteinases (MMPs), and its specific inhibitors, tissue inhibitors of metalloproteinases (TIMPs), have been reported to be involved in the pathophysiology of GH. The purpose of this study was to examine circulating levels of MMP-9, TIMP-1 and TIMP-2 in pregnant women who had GH and those who were normotensive.
The incidence of synchronous bilateral infiltrating breast cancer has been reported to be 2%. However, synchronous unilateral infiltrating ductal carcinoma and infiltrating lobular carcinoma (ILC) are very rarely reported. We present a woman with palpable ILC who was later found to have synchronous well-circumscribed ductal carcinoma on further imaging. We also discuss the use of diagnostic approaches such as ultrasonography, mammography and histopathology. This case highlights the importance of careful assessment of concurrent lesions in the breast in the presence of an existing carcinoma.
Cystic fibrosis (CF) is a rare disease among Asians. Three Malay children with CF presenting with recurrent pulmonary symptoms, malabsorption and failure to thrive are reported. Problems in their management include availability of pancreatic enzymes, compliance to medications and climate factors.
A 3-day-old child presented with a gross swelling on the right side of the neck extending beyond the midline and inability to swallow. It was diagnosed to be cystic hygroma and decision was made to excise the swelling as an emergency operation to enable the child to swallow and thrive better. During the gaseous induction, difficulty was encountered in maintaining the airway and subsequently to intubate the patient. Intraoperatively the surgeon was not able to excise the tumour completely. Postoperatively it was decided to ventilate the child electively because of the intubation difficulties encountered and not so firm floor of the mouth because of surgical excision. The stay in the neonatal ICU was marked with infection and facial nerve palsy.
Renal injury is observed in 10 percent of cases of abdominal trauma, and the majority (80 percent to 90 percent) of these are attributable to blunt trauma. Intravenous urography and ultrasonography of the abdomen were previously the modalities of choice in the imaging of renal injuries. However, computed tomography (CT) is currently the imaging modality of choice in the evaluation of blunt renal injury, since it provides the exact staging of renal injuries. The purpose of this article is to describe the CT staging of renal injuries observed in blunt abdominal trauma based on the Federle Classification and the American Association for the Surgery of Trauma renal injury severity scale.
A 40-year-old Malay woman presented with increasing lethargy, palpitation and shortness of breath, 17 years after a mitral and aortic valve replacement. A Starr-Edwards prosthetic valve replaced the mitral valve, and a Bjork-Shiley prosthetic valve replaced the aortic valve. Biochemical parameters demonstrated intravascular haemolysis, as evidenced by haemoglobin 7.8 g/dL, reticulocyte count 8.4%, lactate dehydrogenase 2,057 IU/L and low haptoglobulin levels (less than 6 mg/dL). Transoesophageal echocardiography revealed a paravalvular leakage over the mitral valve. The haemoglobin levels remained persistently low despite frequent blood transfusions. She successfully underwent a second mitral valve replacement. Her anaemia resolved subsequently.
Findings in the area of patient-physician relationship are riddled with inconsistencies. Although patient-centredness has been found to have special relevance in chronic illnesses, no study in the Southeast Asian region has so far examined role orientation and its implication for patient-centred outcomes in the cancer context. This study aimed to examine role orientation in cancer patients and their physicians, doctor-patient fit and how this congruence relates to patient satisfaction.
Urinary tract infection is the most common of bacterial infections. Screening children for asymptomatic bacteriuria to prevent pyelonephritis and renal scarring is widely recommended. In Malaysia no such attempt has been made to establish the prevalence of asymptomatic bacteriuria. Bacteriuria was screened among 44,816 healthy school children from three different districts in Kelantan. There were 23,132 boys and 21,684 girls. The prevalence of bacteriuria was 0.12% after second screening. Higher prevalence was seen in other reports.