The presence of thrombus within the inferior vena cava (IVC) is often a sign of advance hepatocellular carcinoma (HCC). Various treatment methods have been described with variable and inconclusive results. Now, the advancement of endovascular approach offers new possibility as a potential treatment modality. We discuss the removal of tumour thrombus with catheter directed mechanical thrombectomy. IVC tumour secondary HCC was removed by AngioJet® rheolytic system (Possis Medical, Minneapolis, MN, USA) with good result. Further work should be encouraged to explore the prospect of this technique with other treatment modalities.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide including Malaysia. Screening of cord blood for partial G6PD deficiency is important as they are also prone to develop acute haemolysis. In this study, we determined the prevalence of partial G6PD deficient in paediatric population aged 1 month-12 years and normal term female neonates using OSMMR-D kit with haemoglobin (Hb) normalization and compare it with florescence spot test (FST). A total of 236 children, aged between between 1 month-12 years and 614 normal term female neonates were recruited for this study. Determination of normal means for G6PD activity and; cut-off points for partial and severe deficiency were determined according to WHO Working Group (1989). Determination of prevalence for partial deficiency for both groups (female patient) was done using this enzyme assay kit and findings were compared with FST. In this study, 15.7% (18/115) female children were classified as partial G6PD deficient by quantitative enzyme method (G6PD activity: 4.23-5.26U/gHb). However, FST only detected 0.9% (1/115) with minimal G6PD activity. The prevalence of partial G6PD deficiency in female neonate group was 3.42% (21/614) by enzyme assay versus 0.49% (3/614) by FST. This study concluded that our routine screening method using FST was unable to diagnose female heterozygotes. We recommend using this quantitative enzyme assay method by OSMMR-D kit since it was more sensitive in detecting G6PD deficiency in female neonates compared to FST.
The aim of this study was to investigate the prevalence of postnatal urinary incontinence (PNUI), the risk factors associated with it and postnatal women’s (PN) level of engagement in practicing traditional Malay confinement care (TMCC) in Kelantan, Malaysia. A cross-sectional survey was conducted among 362 postnatal women aged between 18 – 45 years and who were between three to five months post-delivery. Participants were selected through convenience sampling at six Maternal and Child Health Clinics located in comparatively similar districts. Descriptive and inferential analyses including, factor analysis, Pearson chi-square, Mann-Whitney U test and logistic regressions analysis were used for data analysis. Overall, PNUI was reported by 80 women (22.1%). Vaginal delivery was associated with PNUI. All PN women within the study context practiced TMCC. The findings revealed that women who had PNUI were more likely to engage in a higher level of the ‘Body care’ component of TMCC. UI is prevalent among PN women in Kelantan, Malaysia. Further research into the impact of the ‘body care’ component of TMCC on PNUI is required.
A proportion of patients with acute viral fever with thrombocytopaenia does not necessary have dengue infection. Managing them indiscriminately as dengue infection may not be appropriate. The prevalence of this problem is not exactly known. The objective of this study is to determine the prevalence of acute non-dengue febrile thrombocytopaenia among adult patients presenting with acute non-specific febrile illness in an outpatient setting. This was a clinic-based cross sectional study. Consecutive patients presenting with non-specific febrile illness of less than two weeks were selected from the Primary Care Centre of Hospital Universiti Kebangsaan Malaysia (HUKM) and the Batu 9 Cheras Health Clinic. Full blood count was done on the day of visit and dengue serology was done on day five of illness for all patients enrolled. Seventy three patients participated in this study from May to November 2003. Among the patients, 35 (47.9%) were noted to have thrombocytopaenia. Fourteen (40%) patients with thrombocytopaenia were serologically negative. The prevalence of non-dengue febrile thrombocytopaenia was 19.2%. A significant number of patients with acute non-specific febrile illness with thrombocytopaenia were negative for dengue serology. These patients should be differentiated from those with acute febrile thrombocytopaenia, as they might differ in their natural history from those with dengue infection, and hence require different management strategies.
Study site: Primary Care Centre of Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM) and the Batu 9 Cheras Health Clinic.
Fragile X syndrome is a result of an unstable expansion of (CGG)n trinucleotide sequences in the FMR-1 (Fragile X Mental Retardation 1) gene site at Xq27. In a normal person, n ranges from 6 to 40 repeats with an average of 30 repeats, whereas in a mutated FMR1 gene the sequence is repeated several times over (stuttering gene). Full mutation occurs when n equals 200 repeats or more. Where n equals 50 to 200 repeats, it is a premutation. Fragile X occurs when the FMR-1 gene is unable to make normal amounts of usable Fragile X Mental Retardation Protein, or FMRP. The amount of FMRP in the body is one factor that determines the severity of the Fragile X syndrome. A person with nearly normal levels of FMRP usually has mild or no symptoms, while a person with very little or no normal FMRP has more severe symptoms. The mechanism for the role of the FMRP gene is still being researched upon. However, it has been observed that large numbers of repeats (more than 200) inactivates the gene through a process of methylation and when the gene is inactivated, the cell may make little or none of the needed FMRP. Inheritance is X-linked with reduced penetrance and the frequency of occurrence goes up through generations. The phenotypic manifestations of fragile-X syndrome vary and are largely dependent on the size of the mutation or premutation. The identification of the fragile site on G banded metaphases is a time consuming and delicate process requiring experience and skill, however, molecular diagnosis using DNA analysis and Southern blotting, even though expensive, is more specific in determining the presence or absence of the gene. This study was aimed to establish a rapid polymerase chain reaction (PCR) based - touch down PCR, as a screening method for fragile X syndrome. A total of six cases were analysed. Of these, one was a known case of Fragile X (T1) diagnosed by conventional cytogenetics, two were from the latter’s family members namely, his mother (T2) and father (T3), and the other two (T4 and T5) were randomly selected from patients presenting with dysmorphic features and delayed development respectively. One normal control (TC) was included. Cytogenetic analyses for detection of the fragile site was carried out in all cases. Two culture systems were used, namely the synchronised lymphocyte culture and the folate - thymidine deficient culture. Stained metaphases from the fragile X cultures were screened for the presence of the fragile site on the X chromosome. G-banded karyotyping was done using an image analyser to exclude presence of chromosomal abnormalities. DNA was extracted from these samples and amplified by touch-down PCR. Cytogenetic analysis revealed a folate-sensitive fragile site in the affected male, but none in the other five samples. G-banded karyotyping exhibited no additional chromosomal abnormalities. All extracted DNA samples were successfully amplified. Five of the samples showed presence of the product at the expected band at 552bp, excluding the presence of an expansion of CGG segment of the FMR-1 gene. The absence of a band in an affected individual, suggested a fully mutated allele of FRAXA (Folate Sensitive Fragile Site at Xq28). We succeeded in establishing a slightly modified touch-down PCR analysis. Our study indicates that PCR testing offers a rapid and specific method for screening of normal allele and full mutation of the fragile X gene. We suggest this technique to be applied as a complementary tool for cytogenetic analysis to detect the FRAXA gene.
Fine needle aspiration cytology under radiologic guidance for diagnosis of renal cell carcinoma is well established and is increasingly utilized. This is because renal cell carcinoma displays fairly characteristic cellular features permitting correct cytologic identification. We present a case of a 66-year-old man who had advanced renal cell carcinoma with spread to aortic and cervical lymph nodes, lungs and liver. Fine needle aspiration cytology of the para-aortic mass showed tight clusters of malignant cells with abundant and vacuolated cytoplasm consistent with renal cell carcinoma. Histology of the left cervical lymph nodes together with immunohistochemistry findings were consistent with the cytologic diagnosis of metastatic renal cell carcinoma. The patient succumb to his illness three years after the diagnosis was made.
Myelofibrosis is a chronic myeloproliferative disorder characterised by splenomegaly, leukoerythroblastic anaemia, tear-drop poikilocytosis and marrow fibrosis. Splenectomy is indicated for patients requiring frequent transfusions or massive splenomegaly causing distressing symptoms and severe thrombocytopenia secondary to hypersplenism.A 56 year-old lady diagnosed to have primary myelofibrosis in year 2000 was referred to HUKM for further management of her increasing requirement of blood transfusion and massive splenomegaly. She has had two episodes of acute cholecytitis. Investigations done in our hospital showed that her hemoglobin level was 6.4g/dl, white cell count of 23.4x109/l, platelet count 163x109/l and peripheral blood showing leukoerythroblastic picture and tear-drop poikilocytosis. Leukocyte alkaline phosphatase score (NAP) was 184/100 neutrophils. Ultrasound of the abdomen showed massive splenomegaly with multiple gall stones. In view of the frequent transfusion requirements and symptomatic massive splenomegaly, splenectomy and cholecystectomy was performed. A review of her peripheral blood picture, post-splenectomy, showed marked reduction of the tear-drop poikilocytosis and leukoerythroblastosis. We believe that the spleen plays an important role in their formation, but the exact mechanism remains unclear.
Villoglandular papillary adenocarcinoma was first described by Young and Scully in 1989 as a distinct entity with the histological features of exophytic growth proliferation, villous and papillary architecture and mild to moderate nuclear atypia. We report one case of villoglandular papillary adenocarcinoma (VGPA) of the uterine cervix with lymph node metastasis and reviewed the clinicopathological features of six other cases reported in the literature. Our patient is the seventh similar reported cases. They ranged in age from 29 to 54 (mean, 41) years. Five had lymphovascular invasion. All except our patient were treated with radical hysterectomy and radiotherapy. She was followed-up for 7 months and unfortunately died due to chest infection.
In this report we demonstrate the role of fluorescence in situ hybridisation (FISH) and conventional cytogenetic methods in clinically and cytogenetically confirmed cases of microdeletion syndromes. A total of nine cases were referred to the Cytopathology and Cytogenetic Unit, Hospital Universiti Kebangsaan Malaysia (HUKM) from 2002 to 2004. They include three Prader-Willi syndrome, three DiGeorge syndrome, one Williams syndrome, one Miller-Dieker syndrome and one Kallmann syndrome. Blood samples from the patients were cultured and harvested following standard procedures. Twenty metaphases were analysed for each of the cases. FISH analysis was carried out for all the cases using commercial probes (Vysis, USA): SNRPN and D15S10 for Prader-Willi syndrome, LIS1 for Miller Dieker syndrome, ELN for Williams syndrome, KAL for Kallmann syndrome, TUPLE 1 and D22S75 for DiGeorge syndrome. Conventional cytogenetic analysis revealed normal karyotypes in all but one case with structural abnormality involving chromosomes 9 and 22. FISH analysis showed microdeletions in all of the nine cases studied. This study has accomplished two important findings ie. while the FISH method is mandatory in ruling out microdeletion syndromes, conventional cytogenetics acts as a screening tool in revealing other chromosomal abnormalities that may be involved with the disease.
We report two cases of biphenotypic acute leukaemia diagnosed in Hospital Universiti Kebangsaan Malaysia (HUKM), their clinical, haematological characteristics and response to chemotherapy. Both patients are middle-aged ladies who presented with hepatosplenomegaly and high white cell count, mainly composed of blast cells. Their bone marrow aspirations were hypercellular comprising of more than 90% heterogenous blast cells. Cytochemical analyses show more than 3% positivity towards peroxidase, with smaller blasts showing block positivity towards PAS. Immunophenotypically, the blasts showed dual expression of CD 33 and CD 19, CD 19 and CD34, intra CD22, intra TdT and intraMPO. One of the patients showed presence of the Philadelphia chromosome on cytogenetic analysis which was confirmed by Fluorecsence In Situ Hybridisation (FISH). Molecular analysis also showed presence of the BCR-ABL fusion protein. Both patients were given combination chemotherapy consisting of daunorubicin and cytosine arabinoside.However, the patient with positive Philadelphia chromosome BCR-ABL did not achieve morphological remission after induction chemotherapy. In view of the poor prognosis of this disease, both the patients were planned for upfront peripheral blood stem cell transplantation.
Two case reports of retinal vasculitis in presumptive ocular tuberculosis are presented. Case 1 is a 26-year-old Malay woman who had phlebitis with choroidal lesions and case 2 is a 27 year old Malay woman who had occlusive arteritis. Both subjects had positive Mantoux tests with negative systemic screen. Both responded clinically to anti-tuberculous therapy within days of commencing therapy. There was however concurrent increase in vitritis which decreased following anti-inflammatory doses of oral corticosteroids. These two cases represent a rare mode of presentation of ocular tuberculosis for which a high index of suspicion is needed. Multidrug anti-tuberculous therapy should be combined with oral corticosteroids for effective treatment.
A cross-sectional study was carried out in 2006 to determine the prevalence of Ascaris lumbricoides infection among Orang Asli (aborigines) children in Pos Lenjang, Pahang. A total of 71 faecal samples were collected from the children (40 girls and 31 boys) aged between 1-12 years. The samples were examined for the presence of the ova of A. lumbricoides using direct faecal smear and formalin-ether concentration techniques. 42.3%. The prevalence of A. lumbricoides infection was found to be slightly higher in males (45.2%) compared to females (40%) (p>0.05). The school-aged children showed higher prevalence of infection (48.6%) as compared to the preschool children (35.3%) (p
Facial nerve schwannoma is a rare slow growing benign tumour which arises from the Schwann cell of the neurilemma. A retrospective review of 6 patients who had been diagnosed with facial nerve schwannoma between 1998 and 2008 was conducted. There was equal distribution of male and female patients. The mean age was 42 years (range 19 to 66 years). The tumour originated in the internal auditory canal (2 patients), intra-temporal (3 patients) and intraparotid (1 patient) segments of the facial nerve. All tumours were successfully removed and facial nerve continuity was pre-served in 2 cases. The presenting symptoms of facial nerve schwannoma are non specific and dependent on the site of tumour origin. It is a great mimicker of other lesions that can present at the same location. The surgeon should have a high index of suspicion when patients present with progressive facial nerve palsy. Patients should always be counselled regarding risk of facial paralysis because the diagnosis of facial nerve schwannoma is often confirmed intra-operatively.
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.
A cross sectional study was done to determine the prevalence and distribution of human papillomavirus (HPV) genotypes in pre-invasive (cervical intraepithelial neoplasia, grade 3 or CIN 3) and invasive cervical cancer (ICC), in Universiti Kebangsaan Malaysia Medical Centre (UKMMC). A total of 80 paraffin-embedded tumour tissue blocks (20 CIN 3, 60 invasive cancers) between 1999 to 2007 were retrieved from the archives of the Department of Pathology. Patient’s medical records were obtained from the Medical Records Office. Among invasive cancers (n=60), squamous cell carcinoma (SCC) account for 75% and adenocarcinoma 25%. The mean age of cases studied was 52.0 ± 12.2 years and Chinese was the predominant ethnicity (66.3%). Twelve HPV genotypes were identified, namely, HPV 16, 33, 18, 39,52, 45, 58, 59, 31, 35, 6 and 11. The prevalence of HPV was 92.5% with types 16 being the most common (73.8%), followed by types 33 (30%) and 18 (22.5%). A total of 31 cases (38.8%) showed single HPV genotype, while 43 (53.8%) had multiple HPV (two genotypes or more) genotypes. In ICC, HPV 16, followed by types 33, 18, 52 and 39 were the top five common HPV genotypes detected. High prevalence of HPV and multiple HPV infections were major findings among patients with pre-invasive and invasive cervical cancer.
Coronary Artery Bypass Grafting (CABG) surgery has increased the survival rate for individuals suffering from myocardial infarction or coronary ischemia. The present study aimed to examine the perception of quality of life amongst post CABG patients at the National Heart Institute Malaysia. A total of 69 post CABG patients, were studied using the Medical Outcomes Short Form 36 (SF-36). The findings showed that post CABG respondents possessed good level of quality of life (SF-36) physically and mentally. There were significant differences between the role physical in the physical functioning domains of quality of life with gender (t=0.286, p
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
Evidence of ossification was previously considered a relative contraindication to cochlear implantation. It was considered difficult or impossible to achieve safe electrode insertion because of bony obstruction. Either the electrodes or the inner ear structures could be damaged. Moreover, obstructed scala tympani could limit the number of electrodes that can be inserted. The efficacy of the electrical stimulation was also questioned, as a higher current would be needed on an ossified cochlea. Finally, the neural survival in ossified cochlea is unknown. This may complicate the surgical procedure and affect the long-term outcome. However, depending on the experience of the surgeon, cochlear implantation has been attempted even in grossly ossified cochlea. Here we illustrate that cochlear implantation is safe in labyrinthitis ossificans.
The association of human papillomavirus (HPV) with juvenile laryngeal papillomatosis has been well documented. We report two cases of juvenile laryngeal papillomatosis and correlated these cases with presence of HPV, p53 and c-erbB-2 proteins. The first case was a one-year-old male patient and the second a six-year-old female patient. Formalin-fixed paraffin-embedded biopsy specimens were tested for the presence of HPV genome by the technique of in situ hybridisation using wide spectrum and type specific biotinylated probes while the immunohistochemical expression of p53 (D07, 1:50) and c-erbB-2 (DAKO A0485, 1:300) proteins were evaluated with commercially available antibodies. Histologically the tumours in both cases showed papillary configuration of squamous papilloma. The first case detected HPV type 6, HPV type 11 and p53 protein expression while the second case showed only HPV type 6. Both cases of HPV showed positive signals confined to the nuclei in the superficial squamous epithelium. The first case showed p53 positivity seen from the basal region up to one third of the epithelium of laryngeal papillomas and the subsequent recent repeat biopsy showed the positivity of p53 had extended throughout the upper layers of the epithelium. Expression of c-erbB-2 protein was not detected in both cases. These findings were similar as in other studies where follow-up of the cases was recommended since they tend to recur.