Spinal involvement in alkaptonuria is common. Patients usually present in the third or fourth decade with spondylosis or acute intervertebral disc prolapse. Alkaptonuria with root canal stenosis has however hitherto not been reported. We wish to report one such patient.
Interstitial deletions of the long arm of chromosome 4 are rare. The deletions may occur at the proximal or the distal portions of the chromosome and different breakpoints may be involved. We report an interstitial deletion of 4q: 46XY der 4 (q28;q35) in a six-year-old boy with dysmorphic features associated with moderate mental retardation. Parental chromosomal analysis showed a balanced paternal translocation.
The multidrug resistance gene, MDR1, is one of the genes responsible for resistance to chemotherapy in the treatment of leukaemia and other cancers. The discovery of RNA interference in mammalian cells has provided a powerful tool to inhibit the expression of this gene. However, very little is known about the transfection of leukaemia cells with short interfering RNA (siRNA) targeted at MDR1. This study aims to evaluate the effectiveness of two chemically-synthesised siRNA in modulating MDR1 gene and inhibiting P-glycoprotein expression in leukaemic cells. We also evaluated two siRNA delivery methods in this study.
INTRODUCTION: Survivin is a 16.5-kDa intracellular protein that inhibits apoptosis and regulates cell division, and belongs to the inhibitors of apoptosis gene family. It appears to have an important role in regulating apoptosis at the cell cycle checkpoints. Survivin has been found to have a differential distribution in cancer compared to normal tissue, as it is over-expressed in malignant tumours.
METHODS: In addition to the demographical analysis of the disease, data from 382 women with invasive ductal carcinoma of the breast were collected from three hospitals in Northeast Malaysia, and analysed for survivin expression by immunohistochemistry.
RESULTS: Invasive ductal carcinoma of the breast was found to be the most prevalent breast cancer type. Survivin was detected in 260 (68.1 percent) study cases. In addition, significant correlations have been shown between survivin expression on one hand, and tumour size and lymph node involvement on the other hand (p-value is less than 0.05). However, no significant correlations were found with other clinicopathological factors, such as tumour histological grade, tumour side, oestrogen and progesterone receptors. Nuclear expression of survivin was detected in 16.5 percent of the study cases, cytoplasmic expression was detected in 24.1 percent, and 27.5 percent of the cases expressed survivin in both nuclear and cytoplasmic locations simultaneously. The subcellular localisation of survivin was significantly correlated (p is less than 0.001) with the lymph node involvement indicating its value in predicting the aggressiveness of tumour cells, since it increases the resistance to apoptosis and promotes cell proliferation.
CONCLUSION: This is the fi rst known report on survivin expression in cancer in West Malaysia and Southeast Asia. It emphasises the importance of the detection of survivin in breast cancer to aid in diagnosis, confirm malignancy, and to assess the disease progress and response to therapy.
A 21-year-old primigravida with previous history of pulmonary tuberculosis had a normal but assisted vaginal delivery after a prolonged second stage. Within 12 hours, she complained of dyspnoea and was found to have abnormal neck and anterior chest wall swelling. A diagnosis of subcutaneous emphysema was made and this was confirmed with the chest radiograph, which also revealed pneumomediastinum. She recovered well within four days with conservative treatment.
A young East Malaysian lady presented with haemoptysis in 1989. Since then she had recurrent episodes of dyspnoea and two occasions of respiratory failure requiring assisted ventilation. An open lung biopsy showed intra-alveolar haemorrhage with diffuse interstitial fibrosis consistent with idiopathic pulmonary haemosiderosis after excluding secondary causes of pulmonary haemorrhage. She failed to respond to corticosteroid and continued to depend on oxygen until she succumbed to the illness 2 years after the presentation.
This was a retrospective study of the clinical course of 164 adult inpatients with acute renal failure (ARF) at the Hospital of the University of Science Malaysia admitted from June 1986 to May 1990. The mean age was 49.8 +/- 17.2 years. 33.5%, 54.9% and 11.6% were surgical, medical and obstetrical patients respectively. Obstructive uropathy, poor cardiac output or decrease in intravascular volume and infection accounted for more than 67% of the cases. Acute renal failure was present at admission in 113 (69%) patients. The majority of the patients (80%) had nonoliguric acute renal failure with daily output of urine of more than 400 ml. Compared with nonoliguric patients, oliguric patients had higher mortality (56.3% vs 18.9%, p < 0.01), and needed dialysis more frequently (43.8% vs 12.9%, p < 0.01). Early recognition of acute renal failure, improvement in early treatment of renal stones and discerning use of nephrotoxic drugs could result in decrease in incidence and severity of renal failure.
INTRODUCTION: This study aims to determine the prevalence and the types of menstrual disorders among patients with systemic lupus erythematosus (SLE) and to identify factors that influence their development.
METHODS: 61 patients with SLE were enrolled into a cross-sectional, observational study at the medical outpatient clinic, Hospital Universiti Sains Malaysia. A total of 120 healthy women were selected randomly to act as the control group. A questionnaire was administered, vital signs were recorded, and blood was evaluated for routine investigations. A review of past medical records was also undertaken.
RESULTS: The mean age and standard deviation for the study group was 33.23 +/- 10.96 years, the majority being ethnic Malays. 75 percent had a severe SLE disease activity index score on initial presentation, and 59 percent were on cyclophosphamide. 49 percent of the study population had menstrual irregularities, of which 60 percent had sustained amenorrhoea. Nine patients with sustained amenorrhoea had hormonal assays, which confirmed the diagnosis of premature menopause.
CONCLUSION: This study showed that SLE patients had a higher risk of developing menstrual irregularities compared to the normal/healthy population. The risk was higher in the older age group (greater than 30 years old) and those on cyclophosphamide therapy, especially those with a cumulative dose of more than 10 g. Sustained amenorrhoea was the commonest irregularity and a majority of them had confirmed premature menopause.
Study site: medical outpatient clinic, Hospital Universiti Sains Malaysia (HUSM), Kelantan, Malaysia
Renal tubular acidosis (RTA) is a defect in urinary acidification in the absence of renal failure. All records of patients admitted to adult medical wards at the University Hospital USM (HUSM), Kelantan between 1986 to 1990 with the diagnosis of renal tubular acidosis were reviewed. Sixteen (16) patients were identified and fulfilled the diagnostic criteria. Their mean age at presentation was 28.9 +/- 0.74 years. The triad of muscle weakness, hypokalaemia and systemic metabolic acidosis were the characteristic features at presentation. Normal serum alkaline phosphatase and skeletal X-rays were noted. Their prognosis were generally good. Their mean serum bicarbonate and potassium on follow up were 17.84 +/- 0.35 and 3.82 +/- 0.05 mmol/L respectively. The importance of regular follow-up and long-term management is emphasised.
True and pseudoaneurysms of the visceral arteries are uncommon. They represent 0.1-0.2 percent of all vascular aneurysms. Visceral artery aneurysms (VAAs) should be treated due to their propensity to rupture and associated high mortality. We describe a 58-year-old man with pseudoaneurysm of the inferior pancreaticoduodenal artery and who presented with post-motor vehicle accident abdominal pain and a pulsatile epigastic mass. Computed tomography (CT) showed a pseudoaneurysm of the visceral artery, and selective mesenteric angiography showed the aneurysm to be arising from the inferior pancreaticoduodenal artery. The aneurysm was successfully treated with endovascular coil embolisation. CT angiogram at one month post-procedure revealed persistent occlusion of the aneurysm. To the best of our knowledge, this is the first reported pseudoaneurysm of inferior pancreaticoduodenal artery secondary to blunt abdominal trauma from a motor vehicle accident and also the first reported VAA from Malaysia.
Neurological involvement associated with inflammatory bowel disease is well established though rarely reported in the literature. The coexistence of motor neurone disease with ulcerative colitis has never been previously documented. The case of a 53-year-old Indian male with distal ulcerative colitis who, two and a half years later, developed dysarthria, dysphagia, a wasted fasciculating tongue and palatal palsy characteristic of bulbar type motor neurone disease is described. Topical and oral steroids together with azathioprine and mesalazine suppositories controlled the bowel symptoms but did not improve the neurological deficit. Subsequently, the antiglutamate agent riluzole improved the mobility of his tongue. The close temporal relationship and relative infrequency of both these conditions in a Malaysian population along with the recognised association between ulcerative colitis and other neurological conditions deserve careful consideration as to whether a common denominator is involved. Documentation of coexistence of both disorders in a single patient is important in case similar associations are reported in future.
A 31-year old male presented with bone pain, polyuria and a palpable nodule in the neck. Radiological examination showed generalised osteopenia, subperiosteal erosion and presence of bilateral renal stones. The essential chemical pathological changes were increased plasma calcium, mid-molecule immuno-reactive parathyroid hormone (iPTH), human chorionic gonadotrophin (hCG) levels. Surgical excision of the nodule revealed a parathyroid carcinoma. The uniqueness of this case is the steroid-suppressible plasma calcium, iPTH, and hCG levels. The diagnostic implications of the findings are discussed.
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
Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised by neonatal-onset encephalopathy mimicking hypoxic-ischaemic insult, intractable seizure, and feeding and respiratory difficulties. It is often fatal in the early life. We report an affected 8-year-old boy, who presented with severe neurological manifestations since birth, but without clinically-significant seizure. Molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with unexplained encephalopathy in the newborn period, and whose neuroimaging findings are consistent with hypoxic ischaemic encephalopathy. The classic laboratory hallmark of this disorder is low serum uric acid, positive urine sulphite dipstick test, and elevated urinary S-sulphocysteine, hypoxanthine and xanthine.
INTRODUCTION: Diabetic retinopathy (DR) is the commonest complication of diabetes mellitus (DM), and is the leading cause of blindness among working adults. Modification of the associated risk factors as well as early detection and treatment of sight-threatening DR can prevent blindness. Clinical practice guidelines recommend annual eye screening for patients with DM. The proportion of patients in Malaysia who adhere to this recommendation was initially unknown.
METHODS: The Malaysian National Health and Morbidity Survey is a population-based survey conducted once every decade on the various aspects of health, behaviour and diseases. The DM questionnaire on eye screening was administered as face-to-face interviews with 2,373 patients with known DM who were aged 18 years and older.
RESULTS: In all, 55 percent of patients with known DM had never undergone an eye examination. Among patients who had undergone eye examinations, 32.8 percent had the last examination within the last one year, 49.8 percent within the last one to two years, and 17.4 percent more than two years ago. A significantly lower proportion of younger patients and patients who received treatment for DM from non-government facilities had previously undergone eye examinations.
CONCLUSION: The prevalence of DM observed among Malaysians aged 30 and above is 14.9 percent; thus, there is a significant number of people with potential blinding DR. Adherence to eye screening guidelines and the prompt referral of sight-threatening DR are essential in order to reduce the incidence of blindness among patients with DM.
Study name: National Health and Morbidity Survey (NHMS-2006)
Persistent sciatic artery is a very uncommon embryological vascular variant. This case report highlights this rare vascular anomaly, diagnostic difficulty, complication and subsequent treatment in a 43-year-old man who presented with sudden onset of right leg pain for a few hours. He was unable to walk because of pain and numbness. Emergency right lower limb angiogram showed a large aneurysm that was initially thought to arise from the right common femoral artery, associated with thrombus formation within the right popliteal artery. A below knee amputation was performed due to worsening ischaemia of the right leg. The persistent right sciatic artery was later obliterated using percutaneous stenting and endovascular grafting, with deployment of two wallstents.
This retrospective review aimed to examine the relationship between preoperative pulmonary function and the Cobb angle, location of apical vertebrae and age in adolescent idiopathic scoliosis (AIS). To our knowledge, there have been no detailed analyses of preoperative pulmonary function in relation to these three factors in AIS.
The purpose of this study was to evaluate the early functional outcome following the use of a bioabsorbable suture anchor to simplify the repair of injured lateral ankle structures as a variation of an established technique known as the Brostrom-Gould procedure.
Achilles tendon injury is common and surgical procedures related to it are frequently performed and are safe. The incidence of acute pulmonary embolism following these procedures is extremely rare. This case illustrates an incidence of acute pulmonary embolism following Achilles tendon repair in a 35-year-old woman. We discuss the possible causes and the need for thromboprophylaxis.
The purpose of this study was to examine the differing curves of the volar distal radius of healthy Malaysian Malays, so as to obtain detailed morphological information that will further the understanding of volar plate osteosynthesis in Malaysian Malays.