Trisomy 8 is a condition where every cell of an individual presents with an extra copy (three copies of chromosome 8. This disorder occurs when a pair of chromosomes fails to divide evenly, which results in cells containing more than two of this chromosome. Here, we report a case of mosaic trisomy 8 in a Malaysian Malay boy.Although patient in this case confirmed with T8M, he exhibited few of the characteristic features that previously were reported to be associated with T8M. However, the patient’s very young age might explain the lack of clinical presentation of these features.
The repair process of airway epithelium involves cell migration, spreading, proliferation and re-differentiation. Objective: Cellular and molecular responses to tracheal brush induced injury were investigated using a rabbit model. Methods: Eighteen New Zealand white rabbits were divided into uninjured and injured groups. After tracheal brushing, the animals were maintained in the laboratory before being sacrificed at given time points (1, 12 hours, 3, 7, and 21 days). The trachea of each rabbit was retrieved and preserved before being subjected to haematoxylin and eosin staining and real time PCR. Results: After injury, the remained epithelial cells underwent an instant response by proliferating and migrating into the damaged site. This finding was in accordance with the proliferative and migration activity-related gene expression results (MMP-9, TIMP1, vimentin, and ß-integrin). The increased activity of these genes was crucial at the early time points, as it encouraged the remaining cells to repopulate the damaged area. Conclusions: Continuous regulation of MMP-9, vimentin and ß-integrin plays important roles in promoting cellular homing especially the cells bordering the lesion to migrate and repair of the damaged ECM. Thus, this activation enhanced regeneration and repair of the damaged tracheal epithelium as early as 1 h and complete at 21 d following injury.
Thisstudy aim tocharacterize melt-derivedbioactive glass and to determinethe bioactive glass (BG) suitability for dental usagethrough proliferative activity assessment of stem cells from human exfoliated deciduous teeth (SHED)when exposed to bioactive glass conditioned medium. Bioglass 45S5 in mole percentages (46.13% SiO2, 26.91% CaO, 24.35% Na2O and 2.60% P2O5)was synthesizedthrough melt-derived and characterized usingX-ray diffraction (XRD) and Fourier transform infrared spectroscopy (FTIR)to confirm and identify its properties.SHEDwere used to evaluate the biocompatibility of 45S5 by exposing the cells to various concentration of BG-conditioned medium (1-10 mg/ml) using alamarBlue assay. The BG produced has an amorphous structureas shown by XRD analysis. TheSi-O-Si bending, asymmetric Si-O stretching and asymmetricSi-O-Si stretchingbands were observed in the BG structure supporting the presenceof silicate network. For alamarBlue assay, SHED cultured in BG-conditioned medium showed high proliferation rate when subjected to minimal powder content in the DMEM cell culture medium.Hence, it can be concluded that SHED cultured in lower powder content of the BG-conditioned media showedhigh proliferative activity suggesting the potential of the BG for dental usage.
We describe the first clinical case of contact lens related corneal ulcer caused by Elizabethkingia meningosepticaregistered in Southeast Asia. A 20-year-old female student who wasa regular soft contact lens wearer, presented with pain, photophobia and blurring of vision of the right eye for 3 days. On slit lamp examination, there was a small paracentral anterior stromal infiltrate with an overlying epithelial defect. Microbiological cultures from corneal scrapings, contact lens and its casing were positive for E.meningoseptica. Due to high likelihood of contact lens contamination causing keratitis, topical fortified gentamicin0.9% and ceftazidime 5% were administered empirically. Topical vancomycin 5% was later added tailoring to the culture and sensitivity of the organism. After 8 weeks of treatment, the keratitis subsided and corneal epithelial defect completely healed with residual corneal opacity. Even though uncommon, contact lens related E.meningosepticakeratitis can occur in healthy immunocompetent individuals with no ocular comorbidities.
Introduction: Methylation of promoter region of p16 leading to gene silencing has been implicated ina wide range of malignancies including lymphomas. In diffuse large B cell lymphoma (DLBCL) particularly, a varying percentage of epigenetic inactivation of p16 promoter region was observed ranging from 16 -54%. However, quantitative analysis of p16 promoter methylation in DLBCL has not been extensively studied in Malaysia. Objective: This study aims to quantitatively analyse p16 methylation in DLBCL samples using pyrosequencing technique. Methods: Genomic DNA was extracted from 16 formalin-fixed paraffin-embedded lymphoma tissue blocks from patients diagnosed with DLBCL. Samples were retrieved from Hospital Tengku Ampuan Afzan, Pahang and Hospital Universiti Sains Malaysia, Kelantan. Primers were designed to amplify bisulfite-treated DNA targeting p16 promoter region. Methylation status of 7 CpG sites was determined by pyrosequencing. Results: All the 16 samples studied showed promoter methylation of p16. The range of mean methylation percentage was between 18 to 81%. Conclusion: The present study has successfully measured the level of methylation of p16 in all 7 CpG sites despite the limitation in sample size. Since p16 methylation is a common event in our series of DLBCL cases, it is worth including a larger sample size in future studies to increase the chance of finding a significant correlation with clinical parameters.
The aim of this study is to determine the risk factors for retinopathy of prematurity (ROP), and also to screen Norrie Disease Pseudoglioma (NDP) gene mutation in order to determine if mutation in the NDP gene may play a role in the development of ROP among Malay premature infants. This was a case control studyamong Malay premature infants from Hospital Universiti Sains Malaysia (USM) conducted from August 2011 to May 2013. Written consent were taken from their parents before conducting the study. The stage of ROP, systemic risk factors (gestational age and birth weight) and enviromental risk factors (oxygen exposure and duration of ventilation)were reviewed from patients’medical records. DNA was extracted from venous blood and subjected to polymerase chain reaction (PCR) before direct sequencing of NDP gene. A total of 56 Malay premature infants (Case group = 28 ROP premature infants, Controlgroup = 28 non-ROP premature infants)from Hospital USMwere enrolled in this study. Out of 28 premature infants with ROP, 11 (39.3%) premature infants were in stage 3. Only 1 (3.6%) premature infant in stage 4 and 2 (7.2%) premature infants in stage 5. The gestational age (p = 0.010) and birth weight (p = 0.010) were the significant risk factors for ROP. There was no significant difference ofenvironmental risk factors between the two groups. The NDPgene mutation was not detected in Malay premature infants with ROP and also in control group. The gestational age and birth weight were important risk factors of ROP.Although NDPgene mutations were being linked to ROP but NDPgene mutation was not detected in premature infants with ROPas well as premature infants with non-ROP among Malay ethnic background.
Tunnel vision is a classic sign among patients with advanced glaucoma. However, other conditions such as retinitis pigmentosa, optic neuritis and rod-cone dystrophy may be characterized by similar visual field defects. A 52-year-old lady with a family history of glaucoma presented with bilateral gradual loss of peripheral vision for two years. She claimed to have poor night vision about 20 years prior to this presentation. Her visual acuity was 6/7.5 in both eyes. The anterior chamber depth was moderate bilaterally, with Schaffer grading on gonioscopy of grade I to II. The intraocular pressure was 14 mmHg in both eyes. The optic discs appeared normal. Fundus examination showed scattered hypopigmented changes sparing the fovea. Humphrey visual field test revealed bilateral constricted visual fields. She was diagnosed with retinitis punctata albescens (RPA) based on her symptom of poor night vision, supported by the diffuse hypopigmented changes in her fundi. The management of this condition involves careful counselling regarding the genetic nature of the disease and its progressive course. We discuss this case to illustrate the importance of a thorough history taking and careful fundus examination in the workup of patients presenting with tunnel vision.
44-year-old Malay lady presented with drooping of the right eyelid and worsening of left eye vision for one week duration. There was associated headache, periorbital discomfort and diplopia on left gaze. She previously had a history of recurrent optic neuritis affecting both eyes over a period of 12 years. On examination, there was right-sided partial ptosis and left exotropia. The adduction, abduction, elevation and depression of the right eye was limited. Left eye extraocular movements were full. The right eye visual acuity was 6/9, while the left eye visual acuity was perception to light, with a positive relative afferent papillary defect and a pale optic disc. The right optic disc was normal. There was reduced sensation in the trigeminal nerve distribution over the right side of the face. Neurological examination was otherwise normal. Magnetic resonance imaging of the brain and orbit revealed meningeal thickening with involvement of the right orbital apex and cavernous sinus. Blood investigations for infectious and autoimmune causes were unremarkable. She was diagnosed to have idiopathic hypertrophic cranial pachymeningitis and treated with systemic corticosteroids. The right eye extraocular motility improved, while the left eye visual acuity improved to counting finger. This case demonstrates that idiopathic hypertrophic cranial pachymeningitis may present as recurrent optic neuritis in the early phase, before radiological evidence of the disease is present. A high index of suspicion for the underlying cause is essential to prevent irreversible optic nerve damage due to recurrent optic neuritis.
Chromosomal abnormalities (CA) can affect numerical or structural compositions of chromosomosal DNA leading to a diversity of clinical phenotypic presentations. Awareness of prenatal diagnosis and genetic counselling have improved with advancing medical research but CA remain prevalent as its aetiology is unknown. The objective of this study is to determine the frequencies of various CA in the principle region of north-western Malaysia and compare this data to previous reports to ascertain if statistical differences exist. Karyotype analyses performed at the Genetics Laboratory, Advanced Diagnostic Laboratory (ADL) during the first 5-years of cytogenetic services, totalling 1461 cases, were assessed in this report. Cases suspected of CA were initially diagnosed by clinicians and detailed clinical and family histories were recorded. Peripheral blood lymphocytes of patients were collected and cultured in vitro for acquisition of karyotype by standardized G-banding technique. Fluorescence in situ hybridization (FISH) was conducted in cases suspected of to be DiGeorge, Prader-Willi, Angelman and Williams syndrome. Of the total samples (1805) received and cultured, 1669 (92.46%) successfully yielded results. Abnormal outcomes were observed in 495 cases (29.66%) whereby pronounced majority of cases 299 (68.42%) were Down syndrome. This is followed by Edward, Turner and Patau syndrome, in order of frequency. Numerical CA appears to be prevalent accounting for 85.86% of cases. Structural CA accounted for 14.14% of total positive cases whereby the most common was deletions (34.29%) followed by translocations (20%), ring chromosomes (5.71%), Fragile X syndrome (4.29%), duplications (5.71%) and marker chromosomes (7.14%). The remainder of cases (22.86%) consisted of derivative chromosomes and other complex aberrations. The number of polymorphic variant cases were 27 (1.62%). The number of peripheral blood samples received has significantly increased from 14.3 per month in 2006 to 32.17 per month in 2011. Comparative analysis of our study to previous reports reveal statistical differences in the occurrence of several CA including Edward, Patau, Klinefelter and Fragile-X syndrome. Our experience with peripheral blood samples for cytogenetic analysis demonstrated a success rate of 92.46%. This showed an increase in clinicians validating patients’ diagnoses with karyotyping which is essential in confirming genetic anomalies with the goal to substantiate genetic counselling.
We report a case of dural carotid cavernous fistula (CCF) pose a diagnostic dilemma with initial symptoms of the arteriovenous shunt. A 56 year-old man presented with right eye diplopia, thensubsequently developed ptosis, congestion of conjunctiva, dilated episcleral vessels, and gradual rise in intraocular pressure. Initial diagnosis of pseudotumour was made based on negative finding of CCF by computed tomography angiography (CTA). In view of persistent clinical manifestations in spite of steroid therapy, and with the presence of new ocular signs; cock-screw conjunctival vessels, dilated retinal veins, and proptosis, digital subtraction angiography (DSA) was performed and confirmed the diagnosis of dural CCF.The ocular symptoms resolved completely post embolization of the fistula.
Immunization has been introduced for decades to eradicate fatal infectious diseases by inoculating attenuated, killed or toxoid of microorganisms such as bacteria and virus. The triggering action to the immune system would not harm the host; despite can boost the immune responses to any infection. However, several cases of the eradicated infectious disease have re-emerged due to the existence of vaccine hesitancy group. Vaccine hesitancy has been observed emerging worldwide due to rejection in receiving vaccine. The main obstacle in vaccination program was identified according to the misconception that they received from internet or any mass media without boundaries. Various actions from the government have met the needs to enforce and educate the public especially the hesitant group towards better disease prevention with vaccination. The strategy would cover any interaction activities or programs with the public in transferring the information about the vaccination and its benefit to the health of herd community.
It has been recognized extensively that studies of pharmacogenetics provide massive examples of causal relationship between genotypes and drug effectiveness to account for interindividual phenotypic variations in drug therapy. In most cases, cytochrome P450 (CYP) polymorphisms are one of the major variables that affecting those drug plasma concentration, drug detoxification and drug activation in humans. Thus, understanding of CYP polymorphisms can be crucially valuable in order to allow early and more accurate drug dosage prediction and improve the drug response accordingly. Despite the high level of homologous amino acid sequences, CYP2C9 and CYP2C19 genes are among the most important CYP genes which metabolize a wide range of clinically therapeutic drugs. Several critical reviews have been published relating to the aforementioned genes. However, this minireview aims to systematically merge reported studies on the SNPs frequencies of both genes concentrating only on Malaysian population. It is hoped that, the minireview can be an opener for new opportunities to reevaluate the evidence on the prevalence of CYP2C genes as a potential genetic factor influencing a particular drug efficacy and safety among Malaysian. Such evaluation can be developed to the next level of early prediction of better and specific drug treatment, thereby improving the drug response while helping the government in minimising the drug expenditures.
Clinacanthus nutans or locally known as Belalai Gajah in Malaysia has been used in China in various manners to treat inflammatory conditions like hematoma, contusion, strains and rheumatism. Recently, C. nutans has become popular for the treatment of cancer among Malaysian. Thus, the aim of this present study is to prove the anti cancer activity of C. nutans extracts in a treatment of cervical cancer as claimed by local people. Aqueous and methanol extracts were extracted from the leaves of C. nutans and phytochemical screening was performed for determination of secondary metabolites. The cytotoxic activities of both aqueous and methanol extracts were investigated against HeLa cell by using MTT assay. The mode of cell death was examined by Hoechst 33258 nuclear staining. The secondary metabolite constituents detected in C. nutans aqueous extract are terpenoids and flavonoids, whereas methanol extract contains terpernoids, alkaloids and flavonoids. Results also showed that C. nutans aqueous extract exerted a significant cytotoxic effect on HeLa cells (IC50=13±0.82 μg/ml) but no IC50 was detected by methanol extract. No significant cytotoxic activities (IC50 = not detected) were observed in normal kidney cell line, Vero, treated with both aqueous and methanol extracts of C. nutans which showed the cytoselective property of the extracts. However, HeLa and Vero cells treated with control drug, tamoxifen showed a significant cytotoxicity effects with IC50 values of 3.8±0.19 μg/ml and 2.2±0.029 μg/ml respectively. Hoechst 33258 stained showed the aqueous extract of C. nutans induced cell death on HeLa cells via apoptosis. Thus, suggesting C. nutans aqueous extract as a potential promising alternate therapeutic substance for cancer prevention and treatment especially for cervical cancer treatment.
Conventional anticoagulant therapy is the mainstay of medical treatment for deep vein thrombosis disorders. However,there are many complications associated with these agents such as bleeding. Hence, the search for novel anticoagulant derived from natural substances such as plants origin is in high demand nowadays. Ocimum sanctum(O.sanctum) also known as Ocimum tenuiform (OT), tulsi or holy basil from the family of Lamiaceae has been widely used for thousands of years in Ayurveda and Unani systems to cure or prevent a number of illnessessuch as headache, malaria, ulcers, bronchitis, cough, flu, sore throat and asthma. The objective is to investigate theeffect ofO. sanctum(Tulsi) aqueous leaf extract on prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) in human plasma. Coagulation activity of O. sanctum was measured via PT, APTT and TT assay in citrated plasma collected from thirty-six healthy regular blood donors. The plasma was tested against different concentrations of O. sanctum aqueous extract as follows: 0.1mg/ml, 0.5 mg/ml and 1.0 mg/ml. Result shows the aqueous extract of O. sanctum prolonged the PT and APTT assays (p0.05). The gas chromatography-mass spectrometry (GC-MS) analysis had identified the linolenic acid at 1-10% of ethanol and aqueousconcentration at different retention time which was responsible for the coagulation activities of O. sanctumin human plasma. This study suggests that O. sanctum does affect coagulation activity in human plasma and can be potentially used as naturally derived anticoagulant products in the future.
nfectious endophthalmitis is a devastating and potentially sight-threatening condition.The objective is toanalyse the microbiological profile and visual outcome of culture positive endophthalmitis seen in Hospital Universiti Sains Malaysia. All patients with endophthalmitis admitted to Hospital Universiti Sains Malaysia over a 7-year period from January 2007 until December 2013 were recruited into this study. Retrospective review of medical and microbiology records was conducted among patients clinically diagnosed with endophthalmitis in Hospital Universiti Sains Malaysia from January 2007 until December 2013. Sixteen patients were admitted with endophthalmitis during this study period. Seven (43%) were culture-positive, in which five (71%) cases were from vitreous culture and two (29%) from blood specimens. The mean age for culture positive patients of presentation was44 years. The most common bacterial isolate was Pseudomonas spp., while the most common fungus was Candida spp. Other organisms isolated were Fusariumsp., Aspergillus sp., Staphylococcus sp.and Enterococcus sp. The risk factors for culture-positive cases were ocular trauma, corneal keratitis, ocular chemical injury, severe urinary tract infection and retropharyngeal abscess. Only three of the affected eyes could be salvaged. The final visual acuity waspoor in all the culture-positive eyes. Two cases underwent evisceration while one case underwent enucleation. As a conclusion,Culture-positive endophthalmitis in this study were mainly attributed to Pseudomonas spp. and Candida spp. The visual outcome of culture-positive endophthalmitis was poor.
We report a case of cavernous sinus thrombosis in a post-splenectomy male with underlying Haemoglobin E Thalassemia major. A 35-year-old man presented with a first episode of sudden onset of diplopia on lateral gaze for 1 week. He had no other ocular and systemic symptoms. There was no history of trauma or recent infection. However, he admitted that he was not compliant to his oral penicillin V and aspirin, which was prescribed to all post splenectomy patients. Unaided visual acuity in both eyes was 6/6. On examination, there was limited abduction over the left eye, suggestive of left lateral rectus palsy. Full blood count revealed leucocytosis with thrombocytosis. Magnetic resonance imaging, magnetic resonance angiography and magnetic resonance venography of the brain showed bulging of the left cavernous sinus, with a persistent focal filling defect, in keeping with left cavernous sinus thrombosis (CST). He was diagnosed with left isolated sixth nerve palsy secondary to aseptic cavernous sinus thrombosis with pro-thrombotic state post-splenectomy. He was started on subcutaneous fondaparinux and oral warfarin. His diplopia fully resolved after 1 month of treatment with complete resolution of CST on computed tomography venogram.
It is important to study optimism as it is negatively correlated with anxiety and depressive and positively correlated with quality of life in cancer patients. This study translated and investigated the psychometric properties of the Malay version of the Life Orientation Test-Revised (LOT-R) among Malaysian cancer patients. The validated Malay version of the LOT-R will be used for assessing level of optimism among Malaysian cancer patients in future studies and determine factors associated with it in order to design effective psychosocial intervention which will enhance level of optimism in cancer patients. Concurrent translation and back translation of original English version of the LOT-R to Malay was performed and the Malay version was administered to 195 cancer patients of different cancer diagnoses at baseline assessment and repeated 2 months later at follow up. Reliability was assessed with internal consistency (Cronbach’s α) and test-retest reliability (intraclass correlation coefficient), validity was assessed with face, content, convergent, and discriminant validities. Construct validity was examined with exploratory factor analysis. Two third of the participants (n = 129/195; 66%) were of middle age, three forth were females (n = 142/195; 72.8%) and eight tenth were Malays (n = 160/195; 82.1%). The LOT-R (Malay) total score (Cronbach’s α = 0.58; ICC = 0.62) and its domains (Cronbach’s α [Optimism) = 0.60; Cronbach’s α[Pessimism) = 0.42; ICC[Optimism] = 0.61; ICC[Pessimism] = 0.59) demonstrated questionable internal consistencies but acceptable test-retest reliability. Convergent and discriminant validities were achieved by the LOT-R (Malay). Construct validity was also demonstrated by the LOT-R (Malay) as exploratory factor analysis showed that all the items had factor loadings > 0.4.
The LOT-R (Malay) has acceptable psychometric properties and suitable to assess optimism in Malaysian cancer patients. It should be validated for use in other Malaysian populations.
Medicinal plants have healing properties and are able to synthesize various chemical compounds. These chemicals (also known as phytochemical compounds) play vital roles in determining the pharmacological properties existing in certain plants. The phytochemical compounds present in plants are associated with primary and secondary constituents. Most of the time, the secondary constituents exhibit the bioactivities in plants such as antimicrobial, antioxidant, antidiabetic, antibacterial and anti-inflammatory properties. Some common medicinal plants that have been used in curing various diseases by traditional practitioners in Malaysia are Ficus deltoidea Jack, Andrographis paniculata, Curcuma longa, Clinacanthus nutans and Eurycoma longifolia Jack. This review discusses the morphology, phytochemical compounds and phytochemical properties of selected medicinal plants in Malaysia. The plants of focus have been found to possess anti-cancer and anti-diabetic effects. This review, it is hoped will enable Malaysian researchers to explore further on the potential of these plants in investigating new and novel drugs in the future.
Charged particle therapy with carbon ions has advantages over conventional radiotherapy using x-ray beams. The application of charged particle therapy has rapidly increased over the last decades. This is due to its characteristic Bragg peak which has relatively low entrance doses and favourable doses distribution. In this research work, Geant4 based Monte Carlo simulation (MC) method has been used to calculate the radiation transportation and dose distributions in tissue-like media. The main objective of the work was to compare the Geant4 simulated depth dose distributions with experimental measurements and verify the capability of the geant4 simulation toolkit. The carbon ion beams for the therapeutic energy of 350 MeV/u and 400 MeV/u respectively were simulated, with the same settings as the experimental work carried out at the treatment room at Heavy Ion Medical Accelerator (HIMAC), National Institute of Radiological Sciences (NIRS), Chiba, Japan. The simulation results were verified with measurements data. The work was to measure the accuracy and quality of the dose distributions by Geant4 MC methods. The results show that the Bragg peak and spread out Bragg peak (SOBP) distributions in simulation has fairly good agreement with measurements.
Opioids are opium-like drugs which are commonly used as analgesics to treat moderate to severe pain. Apoptosis is a type of programmed cell death to remove unnecessary or damaged cells in an organism. Recently, the ability of opioids to induce apoptosis especially in cancer cell lines hasgained the interest of many researchers. This fascinating finding hasled to more testing of different kindsof opioids against different kindsof cancer cell lines in the course to search for the potential anticancer drugs. This review provides current information about opioids and apoptosis, and more importantly the compilations of researches over the years on how opioids are related to apoptotic cells death.