The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal; however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal imbalances.
Primary thyroid lymphoma is a rare disorder accounting for about 2% of all malignant lymphomas and less than 5% of thyroid malignancies. It is an aggressive disease with poor outcome. The majority of thyroid lymphomas are non-Hodgkin lymphomas of Bcell origin. Majority of cases occur in women in the sixth decade. We report two cases of primary thyroid lymphoma and highlight the clinical issues and challenges posed by this rare disease. Both cases presented with respiratory obstructive symptoms that required surgical intervention. The optimal management for a primary thyroid lymphoma be it chemotherapy, radiotherapy, surgery or monoclonal antibodies is still debatable. The role for surgery has evolved through the years but its importance in emergency situations should not be overlooked. Both our patients had to undergo surgery but only one patient received additional chemotherapy and radiotherapy. These two case reports illustrated the difficulties in managing this rare disorder.
Chlorella vulgaris, a unicellular microalgae, produces many intracellular phytochemicals namely carotenoids, tocopherols, ubiquinone and protein. Skin ageing which is induced by oxidative stress involves decreased extracellular matrix synthesis and increased expression of enzymes that degrade the collagenous matrix. The objective of this study was to determine the effect of C. vulgaris on the expression of genes encoded for collagen (COL) and matrix metalloproteinases (MMPs) which are involved in skin ageing. Human diploid fibroblasts (HDFs) were obtained from circumcision foreskin of 8-12 year-old boys. HDFs were cultured into 3 groups: untreated control cells, cells with stress-induced premature senescence (SIPS; cells were induced with H2O2 at passage 6 for 2 weeks) and SIPS treated with C. vulgaris (prolonged C. vulgaris treatment started at passage 4 and combined treatment with H2O2 at passage 6 for 2 weeks). Senescence-associated ß-galactosidase (SA ß-gal) was determined using senescent cells histochemical staining kit (Sigma, USA). Expression of COLI, COLIII, COLIV, MMPI, MMPII and MMPIII genes was quantitatively analysed with real-time RT-PCR method (iScript™ One Step real-time PCR with SYBR® Green; Biorad). HDFs treated with H2O2 (SIPS) exhibited senescent morphological features of flattening and enlarged with increased expression of SA ß-gal (p
Susceptibility to smoking, which is defined as a lack of cognitive commitment not to smoke in the future, has been shown to be a predictor for adolescent smoking initiation in developed countries. This study aims to evaluate the utility of a susceptibility-tosmoke measure as a predictor of smoking initiation among adolescents in Kota Tinggi district, Johor Malaysia. Susceptibility to smoking was evaluated among 1763 adolescents at baseline using a two-item construct. At follow-up 12 months later, 1288 of the 1763 adolescents (73.1%) responded. Results showed 14.9% (n=188/1260) of the respondents were susceptible to smoking at baseline. Among the susceptible adolescents, 31.9% initiated smoking after one year. Respondents who were identified as susceptible to smoking by the measure were 3.7 times (95%; CI: 2.17- 6.30) more likely to initiate smoking compared to non-susceptible respondents after adjusting for gender, school locality, percentage of friends who smoke, father smoking, parental acceptance of smoking, and belief in the positive and negative consequences of smoking. The findings suggest that the susceptibility measure is a reliable predictor and can be used as a screening tool to identify adolescents who are at risk of initiating smoking.
Human papillomavirus (HPV) plays an important role in the pathogenesis of cervical cancer. HPV has been found in 99.7% of cervical cancers worldwide. In Malaysia, it is the second most common cancer among women in all major ethnic groups. The main purpose of this study was to establish the method of SyBrGreen Real-Time PCR and apply it for identification of multiple infections of the two high risk HPV subtypes. In this study, 57 positive samples for HPV 16 and HPV 18 were used to establish a simple
and sensitive method to detect and identify HPV infection in the cervical neoplasia at different stages of the disease by using real-time ABICycler SyBrGreen 1 technology. The results showed 67 HPV genomes in 57 samples. HPV 16 genome was detected in 55/67 (82%) cases while HPV 18 was detected in 8/67 (12%) cases with 4 cases showing multiple infections of HPV 16 and HPV 18. HPV 16 was the most prevalent followed by HPV 18. Using SyBr Green Real-Time PCR techniques, the results
showed that DNA melting curve for HPV 16 had a peak around 80.2ºC and Ct value of 20 cycles whereas the DNA melting curve for HPV 18 around 79.2ºC and Ct value of 22 cycles. In conclusion, a SyBr Green Real-Time PCR method has the potential for clinical usage in detection and identification of HPV infection in cervical neoplasia at different stages of the disease.
Peripheral neuropathy is highly associated with foot complications among diabetics. This study aimed to identify risk factors associated with the development of peripheral neuropathy in diabetic patients and their association with degree of severity of peripheral neuropathy. A cross-sectional study was conducted in follow-up clinics at the Universiti Kebangsaan Malaysia Medical Centre (UKMMC), Malaysia involving 72 diabetic patients and 19 controls. Exclusion criteria were those with amputated limbs, gross foot deformity and existing peripheral neuropathy. Controls were non diabetics who walked normally, had no history of foot problem and attended the clinic as subjects’ companion. Quantitative assessment of neuropathy was done using Semmes-Weinstein monofilament. Neuropathy Disability Score (NDS) were used to quantify severity of diabetic neuropathy. Spearman’s Rank test and Mann-Whitney test were used to determine correlation between variables and their differences. Logistic regression analysis was used to determine risk factors associated with peripheral neuropathy. The mean HbA1c among diabetics was 8.6% + 4.1, and mean NDS was 7.0 + 6.0. A total of 79.1% demonstrated various level of neuropathy with presence of callus was associated with higher NDS scores. Older age (P=0.02), body weight (P=0.03), HbA1c (P=0.005) and duration of diabetes (P
Study site: follow-up clinics at the Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM)
Acute mastoid abscess is common in daily practice. In children, it is usually caused by unsuccessful treatment or partially treated acute otitis media (AOM). Some authors had reported that chronic suppurative otitis media (CSOM) can be the source of infection but it is usually associated with the presence of cholesteatoma. A case of an acute mastoid abscess in a 7 year old girl is presented. She had a history of severe otalgia with left post auricular swelling for 3 days. Clinically she was febrile, the left otoscopy showed diffuse post auricular swelling and sagging of the posterior wall of the external canal. She underwent an emergency cortical mastoidectomy for the left mastoid abscess and had an uneventful recovery. In conclusion, this patient was partially treated with antibiotics which increased the risk for ‘masked mastoiditis’, and she later developed a mastoid abscess. Therefore we advocate that all AOM patients should be treated with antibiotics at least for a duration of one week.
Helicobacter pylori has been implicated as an aetiologic agent for type B chronic gastritis, peptic ulcer and gastric cancer. It is considered the most common bacterial infection in the world with approximately 50% of the population being infected. The majority of infected individuals are asymptomatic, with some developing gastritis only. However, chronic infection with H. pylori without antibiotic treatment predisposes infected individuals to the development of gastric cancer. The aim of this study is to determine active H. pylori infection among patients with symptoms of dyspepsia using three combinations of diagnostic methods. In this report, we studied 1,376 consecutive patients who underwent upper gastrointestinal endoscopy at Universiti Kebangsaan Malaysia Medical Center (UKMMC) for dyspepsia from the period January 1999 to December 2002. The classification of patient’s diagnosis was assessed by endoscopic and histological examination. The H. pylori status was determined by rapid urease test, histological examination or H. pylori culture. Presence of H. pylori infection was confirmed in 30.8% of patients with dyspepsia. H. pylori infection was more prevalent in older patients and in males compared to females. Patients with severe gastroduodenal diseases were more commonly infected with H. pylori. There was a significant difference in H. pylori prevalence among the different ethnic groups. Indians had the highest infection rate (45.4%), followed by Chinese (36.8%) and the lowest were seen in Malays (18.3%). This finding on determination of active H. pylori infection among patients with dyspepsia is consistent with serological studies that showed racial differences in H. pylori prevalence. However, the pattern of H. pylori infection does not reflect the prevalence of severe gastroduodenal diseases among different ethnic groups.
Residual disease in patients with acute leukaemia indicates unfavorable prognosis. The evaluation of remission using flow cytometry allows a better estimation of minimal residual disease (MRD) after induction chemotherapy in childhood acute lymphoblastic leukaemia (ALL) cases. Patients in morphological marrow remission with presence of blast cells of less than 5%, may still have up to 1010 leukaemic cells. However with flow cytometric analysis, lower levels of the residual leukaemic cells (1 in 104 cells) can be detected and it can be used as a tool to predict relapse. This study compared the presenting clinical and haematological features of children with ALL and their residual disease status determined by flow cytometry. Analysis of their MRD status following remission-induction chemotherapy were done at day-28, week-12 and week-20. The cases were also followed up to five years, to determine their survival status. Their residual disease status by flow cytometric immunophenotyping was also compared with their bone marrow findings morphologically. Thirty-eight cases of precursor B-ALL in pediatric patients from UKM Medical Centre (UKMMC) were analyzed. There was no significant correlation between demographic, clinical and haematological features with MRD status at day-28. However, there was a significant correlation between MRD status by flow cytometry and by morphological marrow examination at week-12. Three cases showed persistent MRD findings until week-20 where two of the cases relapsed and died subsequently. Twenty four patients were still alive after five years of follow up.
A retrospective case series review was conducted to determine the pre-operative role and safety of pre-operative adjunctive anti-vascular endothelial growth factor (anti- VEGF) agent ranibizumab “LUCENTISTM” in patients with diabetic retinopathy requiring vitrectomy. The study involved twenty consecutive eyes of sixteen patients (age range: 46-72 years; mean 57.5 years) which received intravitreal injection of 0.5 - 1 mg of ranibizumab 3 to 8 days (mean 4.4 days) prior to vitrectomy for diabetic retinopathy. There were no local or systemic post-injection complications. Indications for vitrectomy were retinal detachment (RD) [n=11; 3 combined tractional (TRD) - rhegmatogenous RD (RRD), 8 TRD], TRD with vitreous haemorrhage (VH) (n=3) ,VH (n=8) and vitreomacular traction syndrome (n=1). Inclusion criteria include all consecutive eyes of diabetic patients requiring vitrectomy receiving a first pre-operative injection of anti- VEGF. Pre-operative visual acuity (VA) ranged from 6/36 to light perception. All eyes had minimal to moderate intraoperative bleeding. Post-operative VH in eyes without tamponade or gas tamponade was nil (n=1), mild (n=13) or moderate (n=1). Silicone filled eyes had nil (n=1), moderate (n=3) or severe haemorrhages (n=1). Post-operative VA was unchanged (n=2) (10%), improved (n = 14) (70%) or worsened (n=4). VA was 2/60 or better (n=15) to no light perception (n=1). Two eyes achieved 6/12 or better vision (10%). Ten eyes (50%) had 6/36 or better vision. In conclusion, pre-operative intravitreal ranibizumab is safe and useful in diabetic vitrectomy and appears to help with perioperative bleeding leading to improvement in vision.
Congenital cholesteatoma (CC) is rare clinical condition and It is known as a pearly white mass medial to an intact tympanic membrane. In this case report, we describe a 6-year-old boy who presented with a one year history of left ear discomfort, reduced hearing, followed by ear discharge two months prior to admission. Otoscopic examination revealed a large attic perforation. Radiological investigation showed extensive cholesteatoma in the mastoid, mesotympanum and epitympanum with destruction of the ossicles including the stapes footplate. He underwent radical mastoidectomy in view of extensive cholesteatoma with tympanoplasty type V. In this case report, the classification, treatment and theories related to CC are discussed.
The tetraspanin gene, CD151 is involved in various tumour cell progression and metastasis. Its expression is increased in high grade, estrogen receptor negative and c-erbB-2 positive breast cancer. However, the biological function and expression phenotype among different tumour status, estrogen receptor (ER) status, progesterone receptor (PR) status and c-erbB-2 expression in multi-ethnic Malaysian breast cancer patients has not been well investigated. We used quantitative real-time reverse transcriptase polymerase chain reaction (qRT-PCR) to measure the CD151 gene expression in 45 breast cancers. Our preliminary results revealed that CD151 expression is significantly higher in ER positive and PR positive breast cancers at 95% and 99% confidence intervals, respectively. In contrast, there is no significant correlation between CD151 expression and tumour grades or c-erbB-2 status at 95% confidence interval level. Our preliminary findings suggested that CD151 may be involved in the estrogen responsive pathways. CD151 could be a potential prognostic marker and therapeutic target in the treatment of estrogen dependent breast cancer patients.
A cross-sectional study was undertaken to compare patients’ level of recall on verbal and written information about orthodontic treatment. Participants were the patients and parents attending the orthodontic screening clinic, Universiti Kebangsaan Malaysia (UKM). Participation was voluntary. Participants were placed into two groups. One group was given only written information in the form of an information leaflet, while another group was given only verbal information. The information content comprising of 13 items was based on the Patient Information Leaflet published by the British Orthodontic Society. Both groups received similar content of information in their preferred languages. Self administered close-ended questionnaire forms were given to the subjects after 15 minutes to assess the level of recall. The answers from both groups were compared. Data collected was analyzed using SPSS version 15.0. Chi-square test (p=0.05) was conducted to determine the effect of the method of information on the percentage of recall. A total of 79 subjects volunteered to participate in the study. There were more females than males. The majority were found to have achieved secondary level formal education. Comparison of each question item showed no significant difference between those who were provided with verbal or written information. Both groups showed a high proportion of correct responses. In conclusion, there was no difference in the patients’ level of recall whether the orthodontic patient was given verbal or written information.
There are three types of papilloma which arises from the Schneiderian membrane namely inverted, fungiform and oncocytic. Oncocytic papilloma is the rarest type and occurs predominantly in the older age group. Clinically, its behaviour is similar to inverted papilloma in having both local recurrence and associated malignancy. We report a rare case of oncocytic papilloma arising from the maxillary sinus, extending into the nasal cavity and nasopharynx, in a 78-year-old lady. Despite the longstanding history there was no evidence of associated malignancy in this lesion. An endoscopic medial maxillectomy was successfully utilized for approach and complete tumour excision. In conclusion, oncocytic papilloma should be considered as a differential diagnosis in patients presenting with unilateral polypoid nasal lesions especially in the elderly. In addition, endoscopic medial maxillectomy can provide an adequate approach for complete tumour removal.
Phytosterols are plant sterols with a chemical structure similar to cholesterol. It has anti-cholesterol, anti-cancer and anti-oxidant properties which are probably mediated by suppression of lipid peroxidation. However, there are limited studies on the effects of phytosterols on lipid peroxidation. The aim of this study is to determine the effects of phytosterols on plasma and tissue malondialdehyde (MDA) of rats exposed to carbon tetrachloride. The rats were divided into four groups of normal control (NC), carbon tetrachloride (CCl4), phytosterol (P) and phytosterol+carbon tetrachloride (P+CCl4).
The P and P+CCl4 groups were pretreated with subcutaneous phytosterol at 140 mg/kg once weekly for 5 weeks while the NC and CCl4 groups only received olive oil (vehicle). A single oral dose of carbon tetrachloride was then given to rats in the CCl4and P+CCl4 groups to induce lipid peroxidation. After 24 hours, all the rats were sacrificed and the plasma and tissue MDA were measured. Our results showed carbon tetrachloride had caused significant elevations of the plasma and hepatic MDA of the CCl4 group compared to the NC group. Phytosterol pretreatment (P+CCl4 group) were able to prevent the MDA elevations. Phytosterols treatments in normal rats (P group) were found to reduce the hepatic MDA level. The conclusion of this study was that phytosterols are effective suppressor of plasma and hepatic lipid peroxidation. They have potential as supplements to further reduce lipid peroxidation in healthy individuals.
The t(8;21)(q22;q22) is a frequently occurring aberration in acute myeloid leukemia (AML) (18-20%) and usually correlate with French-America-British (FAB) M2 subtype. Several studies showed that patients carrying this abnormality demonstrated good response to standard chemotherapy but also have a high incidence of disease relapse. Trisomy 4 is a rare and specific chromosomal abnormality occurring in AML M2 or M4 of the FAB subtypes. We report a case of a 33-year-old female with an apparently clinical and hematologic diagnosis of acute promyelocytic leukemia (APL) in whom cytogenetic analysis revealed an abnormal karyotype with trisomy 4, in addition to t(8;21). Trisomy 4 and t(8;21) in a patient with AML is rare. The significance of t(8;21) with trisomy 4 in AML are unclear but patients bearing this abnormality are associated with a poor prognosis.
Thymomas comprise about 1% of all mediastinal tumours and are rare in children. Typically, these tumours are aggressive, with a poor outcome. The current treatment of invasive thymoma is often multidisciplinary. We report a 16-year-old boy with invasive thymoma who was successfully treated with systemic chemotherapy, surgical resection and irradiation. The patient has been in continuous remission for 6 years without radiographic evidence of tumour recurrence.
Centrifugation of blood samples to produce platelet-poor plasma is one of the important steps for coagulation testing. Reduction of the time required for specimen processing without affecting quality of results should be ideal for tests which require immediate results. Centrifugation of platelet-poor plasma (3580 rpm) for 15 minutes performed for routine coagulation tests would prolong the turn-around time for an urgent test (30 minutes). This study was done to determine the effect of reducing centrifugation time for routine coagulation tests in order to meet the turn-around time (TAT) for urgent tests. Seventy-nine blood samples sent for routine coagulation tests, were assayed for prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen level and platelet counts, using two different centrifugation speed for plasma preparation: centrifugation at 3580 rpm for 15 minutes and rapid centrifugation at 4000 rpm for five minutes. Paired sample t-test showed that there was a significant
difference in the platelet count between the two groups (p=0.001). However, there was no significant difference in the normal APTT (p=0.16), abnormal APTT (p=0.80), abnormal PT (p=0.43) and the results of fibrinogen levels (p=0.36). In conclusion, rapid centrifugation at 4000 rpm for five minutes does not modify results of routine coagulation tests (PT, APTT and fibrinogen). It would be beneficial in providing rapid results for urgent coagulation tests.
Posterior urethral valve (PUV) commonly presents during infancy. We report a case of a 5-year-old boy with Down syndrome who was diagnosed to have PUV in late childhood. He presented with recurrent left epididymo-orchitis, an uncommon but recognized complication of PUV. Our aim is to discuss this rare and delayed presentation of PUV in particular amongst children with Down syndrome, method of diagnosis and complication of the disease if left untreated.
Percutaneous coronary intervention (PCI) is an invasive diagnostic investigation that may result in high level of anxiety and “fear of the unknown” among cardiac patients. An increment in anxiety among PCI patients will augment the level of stress and this extreme stress level will then aggravate depression. The objective of this study was to determine the incidence of anxiety and depression before and after PCI. This was a cross-sectional descriptive study. The Hospital Anxiety and Depression Scale (HADS) was used. It measured two elements, namely, the anxiety and depression levels of patients before and after PCI. This study was conducted in the cardiology wards Anggerik and Dahlia, and Day Care of the National Heart Institute, from January to February 2006. A sample of 61 patients before and after PCI who fulfilled the inclusion criteria were recruited in this study. Of these, 40 and 38 patients before and after PCI respectively, had low anxiety levels; while, 47 and 46 patients before and after PCI respectively, had low depression levels. Anxiety and depression levels before and after PCI were not significantly correlated to socio demographic status. However, a significant correlation (p