The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in Malaysia. We report two patients who presented with supernumerary chromosomes in mosaic Turner syndrome.
The beta-thalassaemia mutations in 20 Malaysian children with beta-thalassaemia major were characterised by using a multi-modal approach, consisting of a slot-blot hybridisation with selected allele-specific oligonucleotides (ASO), followed by reverse dot-blot assay (RDB), amplification refractory mutation system (ARMS) and genomic sequencing. This strategy yielded a 94.4% mutation detection rate. The 6 most common mutations were codons 41/42 (-TTCT), IVS II nt 654(C --> T), IVS I nt 5(G --> C), IVS I nt 1(G -->T), codon 35 (-C) and codon 19 (A --> G), which accounted for 83.3% of all mutations detected. A strategy of initial screening with the above 6 selected ASOs for slot-blot hybridisation followed by RDB assay for the less common Asian mutations would give a mutation identification of 91.7%. Another feasible approach would be to analyse alleles from a particular racial group, by a judicious selection of 4 ASOs common to that particular subpopulation and then supplement this with RDB assay. This could yield a 100% coverage for the Chinese subpopulation in Malaysia. With these strategies, a practical approach has been identified to overcome the pitfalls posed by the molecular heterogeneity of beta-thalassaemia to enable prenatal diagnosis and carrier screening to be carried out. Regional collaborative studies are to be encouraged as an indispensable tool in providing better health care services to our patients.
We report the occurrence of X-linked lymphoproliferative disease (XLP) in two brothers in a Malaysian family. In this disorder, a primary Epstein-Barr virus (EBV) infection is followed by an abnormal proliferation of transformed B-cells that cannot be controlled by suppressor T-cells, leading to the development of deranged immune function. This results in fatal infectious mononucleosis, acquired hypogammaglobulinaemia, virus-infected haemophagocytic syndrome and non-Hodgkin's lymphoma. The diagnosis should be considered when there is a family history of any male having a fulminant course of infectious mononucleosis, an otherwise benign disease. Early diagnosis is important as bone marrow transplantation is the only curative option in this disorder.
Internal jugular vein ectasia is a venous anomaly commonly presenting as a unilateral neck swelling in children and adults. Literature reports of bilateral presentation are rare. Bilateral Doppler ultrasonography is the diagnostic investigation of choice. The possible pathology, aetiology and management are discussed. Conservative management of bilateral cases is recommended in uncomplicated cases.
A 7-year old female child was admitted for recurrent bronchopulmonary since one week of life. She was diagnosed to have ventricular septal defect and was treated conservatively. At seven years of life, repeat echocardiogram revealed a large perimembranous ventricular septal defect, absent pulmonary valve with overriding of aorta, narrow pulmonary artery annulus, and dilated main pulmonary artery and its branches. She was treated conservatively, discharged and follow-up at the National Heart Institute Kuala Lumpur, for corrective surgery.
We reviewed 116 chest radiographs done in 70 adult asthmatic patients who were admitted to the Hospital Universiti Sains Malaysia from January to December 1989. The chest radiographs were abnormal in 23% of cases. Twelve percent showed hyperinflation and 7% had pneumonia. Eight patients diagnosed clinically to have pneumonia had normal chest radiographs. Seven patients had radiographic findings of conditions which were unsuspected clinically. These included two cases of pneumonia, one case each of fibrosing alveolitis, pneumothorax, pneumomediastinum, mitral stenosis with left ventricular failure and right pleural effusion. In conclusion, we found that significant chest radiograph abnormalities in adult patients admitted for asthma were uncommon although chest radiographs were helpful in detecting complications or coincidental conditions. Chest radiograph is therefore an important investigation in adult asthmatic patients who are admitted. However, considering the cost and the risk of radiation, it should be done only in selective cases rather than as a routine procedure.
Study site: Hospital Universiti Sains Malaysia, Kelantan, Malaysia
A gravid patient with fetal supraventricular tachycardia is presented. A review of this rare condition and the present recommended mode of therapy are discussed.
Distal renal tubular acidosis (RTA) and hereditary elliptocytosis (HE) are apparently distinct, genetic conditions. We report a family with 3 children having both hereditary elliptocytosis and distal renal tubular acidosis. The simultaneous occurrence of these two conditions in three siblings could be due to covariations in the same family, although a possible contiguous gene syndrome for distal RTA and HE cannot be excluded. This report emphasises the importance of excluding a renal tubular defect in any child who presents with elliptocytosis and failure to thrive.
Phenylephrine in concentrations of either 2.5% or 10% is widely used as a mydriatic agent in ophthalmic surgery. Its potential cardiovascular effects are seldom recorded as ophthalmic surgery is not usually monitored by an anaesthetist. A prospective randomised double blind study was carried out in 89 consecutive cases of uncomplicated cataract surgery in the presence of an anaesthesiologist ensuring the continuous monitoring of blood pressure, heart rate, electrocardiography and pulse oximetry. All these patients were given a drop of either normal saline, 2.5% or 10% phenylephrine in addition to mydriacyl prior to surgery. Blood pressure readings were found to be significantly higher in non-hypertensive patients receiving phenylephrine at the start of the operation and at five, 10, 15 and 20 minutes intra-operatively and the first three hours post-operatively. Blood pressure readings in hypertensive patients, on the other hand, were also found to increase after phenylephrine administration, though not statistically significant. 10.3% of the 10% phenylephrine group and 3% of the 2.5% phenylephrine group required intraoperative intravenous hypotensive agent to control the blood pressure. There were no arrhythmias or ischaemic changes observed intraoperatively. None of the patients complained of palpitation, headache or chest discomfort. There was no oxygen desaturation observed. We concluded that significant hypertensive effects can arise after phenylephrine eye drop administration. Hence, it should be used cautiously with intraoperative monitoring of the cardiovascular status during cataract surgery.
Three millilitres of plain 0.5% bupivacaine were injected intrathecally at two different spinal interspaces (L2/3 and L4/5) and at two different speeds (15 and 30 sec) in four groups of ten patients. Injection at L2/3 over 15 sec produced a significantly higher mean maximum spread of analgesia (T6.4) when compared to injection at L4-5 over 15 sec (T10.3) (P < 0.05). Over the same interspace L2/3, injection over 15 sec also produced a higher level of spread as compared to the 30 sec group (p < 0.05). At 15 min there was a greater fall in blood pressure in the L2/3 15 sec group when compared to the other groups (p < 0.01). There was a further decrease in the blood pressure in L2/3 15 sec and L4/5 30 sec groups after 30 minutes of blockade (p < 0.01). Therefore close monitoring of cardiovascular parameters must be continued for at least 30 min in spinal anaesthesia with bupivacaine.
Huntington disease has not previously been recorded in Malaysia. We report the first case in a local patient with a positive family history. The implications of diagnosing this disease will be discussed.
Expression of c-erbB3 protein was investigated in 104 primary breast carcinomas comprising nine comedo ductal carcinoma in situ (DCIS), 91 invasive ductal carcinomas and four invasive lobular carcinomas using two monoclonal antibodies, RTJ1 and RTJ2. Of the 91 invasive ductal carcinomas, seven contained the comedo DCIS component adjacent to the invasive component. An immunohistochemical technique was used to evaluate the association between expression of c-erbB3 and clinical parameters and tumour markers such as epidermal growth factor receptor (EGFR), c-erbB2, cathepsin-D and p53 in archival formalin-fixed paraffin-embedded tumour tissues. Our results indicated that RTJ1 and RTJ2 gave identical staining patterns and concordant results. It was found that the overexpression of c-erbB3 protein was observed in 67% (6/9) of comedo DCIS, 52% (44/84) of invasive ductal carcinomas, 71% (5/7) of carcinomas containing both the in situ and invasive lesions and 25% (1/4) of invasive lobular carcinomas. A significant relationship (P < 0.05) was observed between strong immunoreactivity of c-erbB3 protein and histological grade, EGFR and cathepsin-D, but not with expression of c-erbB2, p53, oestrogen receptor status, lymph node metastases or age of patient. However, we noted that a high percentage of oestrogen receptor-negative tumours (59%), lymph node-positive tumours (63%) and c-erbB2 (63%) were strongly positive for c-erbB3 protein. We have also documented that a high percentage of EGFR (67%), c-erbB2 (67%), p53 (75%) and cathepsin-D-positive DCIS (60%) were strongly positive for c-erbB3. These observations suggest that overexpression of c-erbB3 protein could play an important role in tumour progression from non-invasive to invasive and, also, that it may have the potential to be used as a marker for poor prognosis of breast cancer.
A total of 52 cases of NPC were found in a five-year survey from 1978 to 1982 in Malaysia. The annual rate of occurrence was 3.4, 3.0, 2.4 and 1.8 for Chinese, Malays, Kadazans and Sarawakians, respectively. The age-specific incidence rates per 100 000 were highest for Kadazans (2.34 to 7.59) in comparison to the other races (0.11 to 1.24). The proportion of NPC in young Malaysians formed 1.2% in Chinese, 7.2% in Malays and 6.9% for others. A sexual bias was present in Chinese (male:female = 2.2) and Sarawakians (1.7) but not in Kadazans and Malays (0.9). In most Chinese, the primary tumour histologically is of the poorly differentiated characteristic and this type is the predominant tumour in the country. The Kadazans presented with well differentiated primary tumour and the Malays with all three histological types i.e. well-, poorly- and undifferentiated. At first examination enlarged lymph nodes were found in 95.7% of the patients and 65.2% had epistaxis and growth in the postnasal space. Antibodies to IgA anti-VCA were present in half of the 6 patients serologically studied.
A case of Waldenstrom's macroglobulinemia with classical findings of IgM paraproteinaemia and a typical lymphoplasmacytic marrow infiltrate is reported and the treatment of this patient outlined.
Fifty cases of septicaemic melioidosis were reviewed. There was a preponderance of disease among males (male:female ratio 3.2:1) and those aged over 30 years. The presenting clinical features were very varied and not pathognomonic, ranging from fever, cough and septicaemia to fulminant septicaemia and shock. Pulmonary involvement was recorded in 58% of the patients. Skin and soft tissue sepsis was seen in 24%, but many had signs and symptoms of multiorgan involvement. Associated underlying illness was identified in 76% of patients, diabetes mellitus being the commonest (38%), while 34% had more than one predisposing factor. The mortality of 65% in our series is a reflection of the less than satisfactory status of the diagnosis and therapy of septicaemic melioidosis. Only 24% of our patients received appropriate empirical antibiotic therapy. A high index of suspicion of melioidosis in endemic areas and the use of appropriate empirical antimicrobial therapy would be a step towards reducing the high mortality rate.
This is the first report in which a marine mollusc, Oliva vidua fulminans (olives), generally not known to be poisonous, was responsible for death in five children after consuming boiled olives with tamarind. The onset of symptoms was rapid 10 to 20 min after consumption of the olives. Signs and symptoms included nausea, vomiting, abdominal pain, tingling sensation around the lips, numbness around the mouth, drowsiness, lethargy and generalized weakness with paraesthesia in the limbs. The five deaths occurred within 3 to 4 hours after eating the poisoned olives and resulted from respiratory failure. Left-over olives from the affected household and freshly collected live olives had a toxicity of 14,200 mouse units (M.U.) and 15,000 M.U. per 100 g meat respectively. No other common chemical poison and organophosphorus insecticides were detected. The neurotoxic agent was acid and heat stable and was toxic at pH less than 4. Its action was similar to that of paralytic shellfish poisoning which was caused by toxins from certain dinoflagellates.
Ultrasound examination of the abdominal aorta was performed on 100 patients with cardiovascular disease and a control group of 100 subjects. The objectives were to define the normal aortic size of Malaysians, to screen for aneurysms and to compare the aorta size of the different population groups. In the study group the mean anteroposterior (AP) diameter of the non-aneurysmal aortas at the level of the renal arteries was 1.82 cm (range 0.9-2.6 cm) in men and 1.83 cm (range 1.5-2.3 cm) in women. This compares with 1.61 cm (range 1.1-2.2 cm) in men and 1.50 cm (range 0.8-2.4 cm) in women in the control group. The dimensions of the infrarenal aorta show a similar relationship between the two groups. These AP diameters were significantly smaller than the published figures from studies done on Western populations and are consistent with the smaller stature of Malaysians. Five aneurysms and one ectasia were found (mean size 5 cm, range 3.5-6.0 cm), all in men aged 50-75 years in the study group, and none in the control group. All the aneurysms were easily palpable in these patients who were thinner than the average Caucasian. Given the lower incidence of aortic aneurysms in Malaysians there is no role for routine ultrasound screening of the population. High risk groups can be adequately screened by clinical examination alone.
Five pesticides were evaluated against laboratory colonies of Leptotrombidium fletcheri (Womersly and Heaslip) by the Pasteur pipet technique. The pesticides were dieldrin (LC50 = 3.6 ppm, LC99 = 18.2 ppm), bromopropylate (LC50 = 9.2 ppm, LC99 = 239.6 ppm), dicofol (LC50 = 27.8 ppm, LC99 = 118.1 ppm), fenthion (LC50 = 15.4 ppm, LC99 = 29.7 ppm), and malathion (LC50 = 84.7 ppm, LC99 = 313.9 ppm). Dieldrin was the most toxic. Dicofol was recommended for further evaluation in field trials.