MyMedR

Displaying publications 1 - 20 of 26 in total

Abstract:

Sort:

Fulltext The presence of single-nucleotide polymorphisms in Hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study

Norafiza Zainuddin, Maizatul Akma Mamat, Norlelawati A. Talib

International Journal of Allied Health Sciences, 2017;1(2):14-27.
MyJurnal

Schizophrenia is a devastating mental disorder that affects people’s normal life with heterogeneous features of its clinical presentation, as well as its molecular attribute. In order to identify the potential molecular aberration, particularly single nucleotide polymorphism (SNP) which could be important in the aetiology of schizophrenia, polymerase chain reaction (PCR)-DNA sequencing approach was utilized for targeting the exon (and intron) 9 of the Hermansky-Pudlak syndrome type 4 (HPS4) gene. DNAs were extracted from peripheral blood of nine schizophrenic patients and one normal individual prior to PCR-DNA sequencing. Following DNA sequencing, a SNP (A>G) which is rs713998 at nucleotide position 22618 of exon 9 of the HPS4 gene was observed in eight schizophrenia samples. Moreover, DNA sequencing results also revealed an intronic aberration/SNP which is rs3747129 (C>T) at nucleotide position 22789 of intron 9 of the HPS4 gene in four schizophrenia samples. A SNP which is rs739289 (G>T) at nucleotide position 22677 of the intron was also found in eight schizophrenia samples. The importance of both the exonic and intronic aberrations is yet to be confirmed with further research involving larger population and other relevant clinical parameters. That notwithstanding, these preliminary results suggested that single nucleotide aberrations, particularly SNPs might have a role in the development of schizophrenia
Fulltext Physico-chemical properties and sensory acceptance of mixed drinks of red cabbage (Brassica oleracea L.) and roselle (Hibiscus sabdariffa L.) extracts

Nur Farah Hani, M., Zaiton, H., Faridah, H., Norlelawati, A.

International Food Research Journal, 2019;26(2):671-677.
MyJurnal

The present work aimed to determine the best formulation of mixed drink made from red cabbage and roselle extracts. Six mixed drink formulations were prepared based on different ratios of red cabbage to roselle extracts: F1 (30:20); F2 (35:15), F3 (40:10); F4 (20:30); F5 (15:35) and F6 (25:25). Samples were prepared by pasteurising the mixed drinks with the pre-determined amount of ingredients at 90°C for 5 sec. The pH of roselle extract (2.06 ± 0.02) was found to be more acidic as compared to red cabbage extract (6.38 ± 0.03). This contributed to the low pH in mixed drink formulations (2.68-3.48). Total titratable acidity (TTA) (0.44-0.89% malic acid w/v) and total anthocyanin content (247.99-339.77 mg cyanidin-3-glucoside/L) were shown to increase significantly with increasing roselle extract concentration. Similarly, total soluble solids (TSS) (12.23-12.83°brix) was found to increase significantly with higher ratio of red cabbage extract due to high TSS content (7.67 ± 0.08°brix) in the extract as compared to roselle extract (4.63 ± 0.09°brix). There were significant differences among all the samples in L*, a* and b* values. Mixed drink formulations that contained higher concentration of red cabbage extract were lighter and redder in colour. Significant differences were observed in sweetness, sourness, taste and overall acceptability of drinks, with F3 yielding the highest mean scores for all attributes. Mean score of sensory attributes of the mixed drinks were related to physicochemical properties. Mean scores of all sensory attributes had negative correlation with TTA. Sweetness mean score was positively correlated to the L* value, sourness mean score was positively correlated with pH, L* and a* values but negatively correlated with b* value, and colour mean score had positive correlation with a* value. Therefore, it can be concluded that panellists preferred less sour drinks, which were lighter and redder in colour.β-carotene onto the PKSAC in a model system but yielded the highest desorption efficiency.
Fulltext Effects of Chronic Organic Arsenic Exposure on Rats Kidney - Light Microscopy and Electron Microscopy Study

Wan Muhamad SalahudinWan Salleh, Norlelawati A. Talib, Nor Zamzila Abdullah, Sanda Aung, Zunariah Buyong

IIUM Medical Journal Malaysia, 2019;18(102):41-0.
MyJurnal

Monosodium methylarsonate (MSMA) is an organic arsenical pesticide widely used in agriculture. Humans are exposed to arsenic through drinking water and anthropogenic activities. Exposure to inorganic arsenic has been linked with multiple health problems. However, studies focusing on chronic organic arsenic exposure and its adverse effects on kidney were limited. The purpose of current study was to determine the effects of chronic organic arsenic exposure in rats kidney by light and electron microscopy. Materials and Method: Thirty-six male SpragueDawley rats were divided into six groups (n=6); three control and three treatment group respectively. All the control group was given distilled water via oral gavage. The treatment group was given oral gavage of MSMA at 42.10 mg/kg body weight (BW) which is equivalent 1/30 LD50 of MSMA. The control and treatment groups were sacrificed at two month, four month and six months interval. Both kidneys harvested for light microscopy and electron microscopy study. Results: Showed progressive changes. The changes initially focal and became diffused involving glomerular; such as glomerular hypercellularity, glomerular shrinkage and dilated Bowman's space. Meanwhile, in proximal tubules, showed diminished brush borders, detachment of nucleus and basement membrane thickening. Electron microscopy showed flattened cell bodies of podocytes, effacement and fusion of podocytes foot processes, thickening of glomerular basement membrane, and discontinuity of brush border. The control and two-months treated group appeared to be normal. Conclusion: Chronic organic arsenic (MSMA) exposure induced chronic kidney injury.
Fulltext Development and physico-chemical analysis of granola formulated with puffed glutinous rice and selected dried Sunnah foods

Agbaje, R., Hassan, C. Z., Norlelawati, A., Huda-Faujan, N., Abdul Rahman, A.

International Food Research Journal, 2016;23(2):498-506.
MyJurnal

The need for nutritional and functional foods has increased. Consumers, these days, do not
eat snacks only to provide satisfaction for their hunger, but also to supply essential nutrients
to body. The objective of this study was to develop six formulations of granolas/cereal bars
using different combination of Sunnah fruits such as dates (Phoenix dactylifera), raisins (Vitis
vinifera L.) and figs (Ficus carica). The cereal bars were formulated using dry raw materials
(glutinous rice, black Cummins, etc.) and binding agents (honey and glucose syrup). The cereal
bars were assessed for water activity and proximate composition. It was observed that the
sample B, made with 70 g of glucose syrup, 100 g honey and 450 g of total fruits had the
highest value of moisture (18.73%) as compared to other formulations (P˂ 0.05). There were no
differences in protein contents of the cereal bars formulated. Ash contents of the formulations
were significantly different (P˂ 0.05) in samples B and F; the values ranged between 0.97%
and 1.88%. The fat contents were significantly different with formulation B having the highest
fat content (10.72%) and carbohydrate contents were affected by fibre contents; samples with
lower crude fibres had higher carbohydrate contents which also reflect in the energy contents
of the granola/cereal bar samples. Lowest aw (water activity) was observed in the samples with
lower fruit contents which could be as a result of their lower moisture contents. According to
the results, incorporation of glutinous rice flakes with different composition Sunnah foods and
binding agents; honey and glucose syrup can be used to formulate cereal bars with appreciable
proximate and energy contents.
Fulltext Liver Sinusoidal Endothelial Cell (LSEC) isolation following a liver profusion technique

Shahida Saharudin, Norlelawati A. Talib, Nor Zamzila Abdullah, Jamalludin Ab. Rahman, Zunariah Buyong

International Medical Journal Malaysia, 2017;16(11):27-27.
MyJurnal

Liver perfusion has been the standard method to digest and isolate liver
cells including liver sinusoidal endothelial cells (LSEC). Poor cannulating skills through
portal vein results in a waste of animal resource. Familiarization of both liver perfusion
technique and adhering strictly to aseptic technique during cell handling ensure high
cell yield, minimum morphology disruption and cell contamination. We aimed to present
a method of liver perfusion procedure followed by the isolation of LSEC. (Copied from article).
Fulltext Epigenetic changes of DRD2 gene in Pathogenesis of Schizophrenia

Nour El Huda Abd Rahim, Mohd Nabil Fikri Rahim, Norsidah Ku Zaifah, Hanisah Mohd Noor, Kartini Abdullah, Norlelawati A. Talib

International Medical Journal Malaysia, 2017;16(11):3-3.
MyJurnal

The dopamine hypothesis has earlier dominated the theories for the
development of schizophrenia based on the early pharmacologic evidence. The
antipsychotic drugs, among others, is thought to interfere with the function of the
dopamine D2 receptor (DRD2) resulting in clinical improvement. Accumulating evidence
suggest the role of epigenetic mechanisms in the pathophysiology of schizophrenia.
Despite this, specific evidence linking the DRD2 DNA methylation with schizophrenia is
insufficient mainly due to the poor accessibility and limited brain samples. Of late, new
data has suggested the global impact of DNA methylation in the development of
schizophrenia, thus methylation in the peripheral blood could infer changes in the brain.
The aim of this study was to assess the DRD2 DNA methylation in the peripheral blood of
schizophrenia.
Fulltext Acquired Platelet Dysfunction with Eosinophilia (APDE): Contemplating Physical Abuse

Muhamad Azamin Anua, Norlelawati A. Talib,, Nur Farah Izzati Misaridin, Asrar Abu Bakar, Mossad Abdelhak Mohamed, Taufiq Hidayat Hasan

IIUM Medical Journal Malaysia, 2019;18(102):11-0.
MyJurnal

APDE is an acquired, transient bleeding disorder characterised by normal platelet counts with eosinophilia. It was previously known as ‘nonthrombocytopenic purpura with eosinophilia’. We report a case of a 3-year-old boy with prolonged history of spontaneous unexplained bruising which was initially investigated by SCAN team for non-accidental injury (NAI). Case report: A 3-yearold boy attended clinic with a 4-month history of recurrent bruising. Parents were unsure of preceded illness, but he remained well with no history of trauma. He has unremarkable medical history and father is a thalassaemia carrier. Upon assessment in clinic, he was subsequently referred for suspected NAI and SCAN team led to a police report with a plan to review in 2-months. Parents later decided to bring the child for further medical assessments which revealed multiple bruises over both thighs, back of shoulder, loin and trunk with varying sizes and ages. They were all non-tender on palpation with no recognisable shapes or patterns. Blood results showed normal liver functions with slightly prolonged APTT 39.8 secs. He has normal platelet count with significant eosinophilia 2.2 x 10^9/L and occasional reactive lymphocytes. Reflecting this result, plan for platelet functions and von Willebrand tests were made. However, due to costs, we decided to treat the child with antihelminthic agent for possible parasitic infestation. He had 3 days course of albendazole and no further bruises appeared after 5 days of completing treatment. Discussion: The clinical presentation of APDE can mimic Idiopathic Thrombocytopenic Purpura in many ways yet normal platelet counts often leads to a delay in diagnosis. Reassuringly, the course of APDE is benign and no treatment is often required. Conclusion: Investigations however are costly, therefore treatment with anti-helminthic agent would be an alternative option in providing assurance to family and medical practitioners dealing with suspected cases.
Fulltext Prediction of clinical symptoms of Schizophrenia based on COMT Methylation marker

Nour El Huda Abd Rahim, Mohd Nabil Fikri Rahim, Norsidah Ku Zaifah, Hanisah Mohd Noor, Kartini Abdullah, Norlelawati A. Talib

International Medical Journal Malaysia, 2017;16(11):19-19.
MyJurnal

The dopamine hypothesis of schizophrenia is based on the fact that hyperdopaminergic
state is involved in causing psychosis and antipsychotic drugs block the
dopamine receptor. COMT regulates the homeostatic levels of neurotransmitter
dopamine in the synapses and plays a role in the neurocognitive function. The
dysregulation of dopamine in the prefrontal cortex influences the cognitive function and
the severity of the psychotic symptoms in schizophrenia. During epigenetic event,
methylated COMT gene may cause reduction in its expression and contribute to the
clinical presentation of schizophrenia. Therefore, the aim of this study was to assess the
feasibility of using COMT DNA methylation for the prediction of specific psychotic
presentation of schizophrenia. (Copied from article).
Fulltext MGMT and SPOCK2 Promoter Methylation in diffuse large B-Cell Lymphoma: a study in two tertiary health centres in the East Coast of Malaysia

Norafiza Zainuddin, Lailatul Jalilah Mohd Ridah, Aqilah Nabihah Omar, Norlelawati A. Talib, Naznin Muhammad, Faezahtul Arbaeyah Hussain

Jurnal Sains Kesihatan Malaysia, 2017;15(2):77-82.
MyJurnal

MGMT (O6
-Methylguanine-DNA Methyltransferase) suppresses tumor development by removing alkyl adduct, while
SPOCK2 (SPARC/Osteonectin CWCV and Kazal-like domains proteoglycan) abolishes the inhibition of membrane-type
matrix metalloproteinases (MT-MMP) which leads to angiogenesis. Hence, MGMT methylation may initiate malignant cells
transformation. In contrast, SPOCK2 methylation is hypothesized not to be a common event in diffuse large B-cell lymphoma
(DLBCL). In this study, we examined the methylation status of MGMT and SPOCK2 in DLBCL as in Malaysia the information
is extremely lacking. A total of 88 formalin-fixed paraffin-embedded tissue of patients diagnosed with DLBCL from the
year 2006 to 2013 were retrieved from Hospital Universiti Sains Malaysia, Kelantan and Hospital Tengku Ampuan Afzan,
Pahang. Methylation-specific polymerase chain reaction (MSP) was used to examine the methylation status of both genes.
Interestingly, methylation of MGMT was detected in all the 88 DLBCL samples, whereas SPOCK2 was found to be methylated
in 83 of 88 (94.3%) DLBCL cases. Our study showed a remarkably high percentage of promoter methylation of both
MGMT and SPOCK2 genes. Our finding also negates initial expectation that SPOCK2 methylation would be an uncommon
event in the majority of DLBCL cases. This study has shown a very high percentage of promoter methylation of MGMT and
SPOCK2 in the DLBCL cases studied by MSP, using archival lymphoma tissues. Nonetheless, additional research is needed
to quantitatively evaluate MGMT and SPOCK2 methylation, and to analyse gene expression and/or protein expression in
order to further understand the role of MGMT and SPOCK2 methylation in the pathogenesis of DLBCL.
Fulltext Anti-atherosclerotic effects of Eurycoma Longifolia (Tongkat Ali) in rats fed on High-fat diet

Fakhria Al-Joufi, Anil K. Saxena, Imad M. Al-Ani, Norlelawati A. Talib, Rafidah H. Mokhtar, Norsidah Ku -Zaifah

International Medical Journal Malaysia, 2017;16(1):83-90.
MyJurnal

Atherosclerosis in cardiovascular disease (CVD) is a growing health problem, especially in developing countries. Hyperlipidemia is known as a dominant risk factor for the development of atherosclerosis. This study was designed to investigate the effects of Eurycoma Longifolia (EL) also known as Malaysian Ginseng/ Tongkat Ali on the testosterone level, biochemical changes of lipid profile and intima media thickness (IMT) in rats fed on high-fat diet. Twenty young, adult male Sprague-Dawley (SD) rats were housed for 12 weeks. After one week of acclimatization, they were randomly divided into four groups of 5 animals each and treated for 12 weeks as follow: Group ND was given only normal diet, group NDEL was given normal diet and EL extracts (15mg/kg) dissolved in distilled water, group HFD was given only high fat diet and group HFDEL was given high fat diet and EL extracts (15mg/kg). Rats which were treated with EL (NDEL and HFDEL) showed a significant increase (p
Fulltext Leucocytic DNA Methylation of Interleukin-6 Promoter Reduction in Pre-Hypertensive Young Adults

Omar WFNW, Abdullah A, Talib NA, Shah ASM, Rahman JA

Malays J Med Sci, 2019 Nov;26(6):46-54.
PMID: 31908586 MyJurnal DOI: 10.21315/mjms2019.26.6.5

Background: Pre-hypertension is associated with increased risk of cardiovascular disease. Chronic inflammation plays an important role in the pathophysiology of essential hypertension, with epigenetic dysregulation involvement. Nevertheless, the role of DNA methylation in prehypertensive state is unknown. The aim of this study was to investigate the association between DNA methylation level of interleukin-6 (IL-6) promoter in pre-hypertensive (PreHT) and normotensive (NT) young adults.
Methods: A total of 80 NT and 80 PreHT healthy subjects aged between 18-45 years were recruited in Kuantan, Pahang, Malaysia using an observational cross-sectional study approach. DNA methylation level of IL-6 promoter in peripheral leukocytes were measured using bisulphite conversion and MethyLight assay.
Results: There was no significant difference in age between NT and PreHT (P = 0.655). The mean blood pressure was 110(8)/73(5) mmHg in NT and 125(7)/82(5) mmHg in PreHT subjects. The IL-6 promoter methylation level was significantly lower in PreHT compared to NT subjects (P < 0.001).
Conclusion: The current study demonstrates that hypomethylation of IL-6 promoter was associated with pre-hypertension in young adults. Thus, IL-6 methylation could be used as an early indicator for predicting hypertension and related risk of cardiovascular diseases in prehypertensive subjects. Gene expression and longitudinal studies are warranted to examine the methylation effect on IL-6 expression over time.
Fulltext Identification of Haptoglobin as a Potential Biomarker in Young Adults with Acute Myocardial Infarction by Proteomic Analysis

Mohamed Bakrim N, Mohd Shah ANS, Talib NA, Ab Rahman J, Abdullah A

Malays J Med Sci, 2020 Mar;27(2):64-76.
PMID: 32788843 MyJurnal DOI: 10.21315/mjms2020.27.2.8

Background: Acute myocardial infarction (AMI) molecular research in young adults is still limited. The aim of this study is to identify AMI proteomic biomarker(s) in young adults.
Methods: This study comprised of two phases namely discovery and verification. In the discovery phase, proteins in the pooled plasma samples from young male adults between 18 and 45 years (10 AMI patients and 10 controls) were separated using two-dimensional electrophoresis. The protein spots that were expressed differently in the AMI patients were identified via matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry. The plasma concentrations of these proteins were quantified using enzyme-linked immunosorbent assay during the verification phase (40 AMI patients and 80 controls).
Results: Haptoglobin (Hp), apolipoprotein AI (Apo AI) and apolipoprotein AIV (Apo AIV) were up-regulated in the discovery phase. In the verification phase, the plasma concentration of Hp was significantly higher in AMI patients than the controls (P < 0.001). Logistic regression showed an association between Hp and AMI in young adults (odds ratio [OR] = 1.016, 95% CI: 1.002-1.030, P = 0.025) independent of other AMI risk factors. Hp was significantly correlated with high sensitivity C-reactive protein (hs-CRP) (r = 0.424, P < 0.001).
Conclusion: In young adults with AMI, plasma Hp concentrations were elevated and it is independently associated with AMI. A positive correlation with hs-CRP suggests Hp could be a potential biomarker of AMI in young adults.
Fulltext Inherited Anti-Thrombin Deficiency in A Malay-Malaysian Family: A Missense Mutation at Nucleotide g.13267C>A aka anti-thrombin Budapest 5 (p.Pro439Thr) of the SERPINC 1 gene

Norlelawati AT, Rusmawati I, Naznin M, Nur Nadia O, Rizqan Aizzani R, Noraziana AW

Med J Malaysia, 2014 Feb;69(1):27-30.
PMID: 24814625 MyJurnal

OBJECTIVE: Inherited anti-thrombin deficiency is an autosomal dominant disorder which is associated with increased risk for venous thromboembolism (VTE). This condition is very rare in Malaysia and there has been no documented report. Thus, the aim of the present study is to investigate the type of an inherited anti-thrombin deficiency mutation in a 25-year-old Malay woman who presented with deep vein thrombosis in her first pregnancy.

METHODS: DNA was extracted from the patient's blood sample and buccal mucosal swabs from family members. Polymerase chain reaction(PCR) assays were designed to cover all seven exons of the serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1) gene; and the products were subjected to DNA sequencing. Sequences were referred to NCBI Reference Sequence: NG_012462.1.

RESULTS: A heterozygous substitution mutation at nucleotide position 13267 (CCT->ACT) was identified in the patient and two other family members, giving a possible change of codon 439 (Pro→Thr) also known as anti-thrombin Budapest 5. The genotype was absent in 90 healthy controls.

CONCLUSION: The study revealed a heterozygous antithrombin Budapest 5 mutation in SERPINC 1 giving rise to a possible anti-thrombin deficiency in a Malay-Malaysian family.
Fulltext Detection of SYT-SSX mutant transcripts in formalin-fixed paraffin-embedded sarcoma tissues using one-step reverse transcriptase real-time PCR

Norlelawati AT, Mohd Danial G, Nora H, Nadia O, Zatur Rawihah K, Nor Zamzila A, et al.

Malays J Pathol, 2016 Apr;38(1):11-8.
PMID: 27126659 MyJurnal

Synovial sarcoma (SS) is a rare cancer and accounts for 5-10% of adult soft tissue sarcomas. Making an accurate diagnosis is difficult due to the overlapping histological features of SS with other types of sarcomas and the non-specific immunohistochemistry profile findings. Molecular testing is thus considered necessary to confirm the diagnosis since more than 90% of SS cases carry the transcript of t(X;18)(p11.2;q11.2). The purpose of this study is to diagnose SS at molecular level by testing for t(X;18) fusion-transcript expression through One-step reverse transcriptase real-time Polymerase Chain Reaction (PCR).
Fulltext Spontaneous repositioning of posterior chamber intraocular lens: a mere coincidence?

Wern-Yih C, Jan-Bond C, Sudha M, Norlelawati A, Shatriah I

Arq Bras Oftalmol, 2020 08;83(4):329-331.
PMID: 32756777 DOI: 10.5935/0004-2749.20200054

Despite the recent developments in modern cataract surgery and the application of a vast array of new devices and machines, late in-the-bag intraocular lens dislocation remains a devastating, albeit rare, complication. Various nonsurgical and surgical techniques have been used to manage this complication. We report a case of spontaneous repositioning in the left eye of an anteriorly subluxated in-the-bag intraocular lens. The spontaneous repositioning may have been caused by antagonistic effects related to the topical administration of brimonidine and prednisolone. The dislocation was treated without aggressive manipulation or surgical intervention.
Fulltext Bilateral cavernous sinus and left dural sigmoid sinus thrombosis associated with extreme exertion: a case report

Wern-Yih C, Jan-Bond C, Sudha M, Norlelawati A, Shatriah I

Arq Bras Oftalmol, 2021 1 21;84(1):83-86.
PMID: 33470347 DOI: 10.5935/0004-2749.20210013

Septic cavernous sinus thrombosis is a rare but often debilitating and potentially fatal disease. We describe a case of bilateral orbital cellulitis with rapidly progressing cavernous sinus thrombosis and left sigmoidal sinus thrombosis in an immunocompetent 20-year-old military man who had undergone intensive physical training. The patient presented with rapid painful swollen left eye for 2 days. The examination results were gross proptosis with total ophthalmoplegia. He was treated with intravenous antibiotics and corticosteroid. At 1 week, visual acuity improved to 20/20 OU, with a normal intraocular pressure. There was a significant improvement in proptosis. The ocular motility of the right eye was fully restored, with slight residual ophthalmoplegia in the left eye. There was no residual illness or recurrence of illness at 3 months' follow-up.
Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population

Yusoff S, Van Rostenberghe H, Yusoff NM, Talib NA, Ramli N, Ismail NZ, et al.

Biol. Neonate, 2006;89(3):171-6.
PMID: 16210851

Gilbert syndrome is caused by defects in the uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) gene. These mutations differ among different populations and many of them have been found to be genetic risk factors for the development of neonatal jaundice.
Concordance between immunohistochemistry and MSI analysis for detection of MMR/MSI status in colorectal cancer patients

Faizee MI, Talib NA, Hamdan AHB, Abdullah NZB, Rahimi BA, Haidary AM, et al.

Diagn Pathol, 2024 Nov 29;19(1):155.
PMID: 39609863 DOI: 10.1186/s13000-024-01571-5

BACKGROUND: Recently, screening of colorectal cancer (CRC) patients for mismatch repair/microsatellite instability (MMR/MSI) status is widely practiced due to its potential predictive and prognostic roles and a screening tool to reveal Lynch Syndrome (LS). The purpose of the study was to evaluate concordance between immunohistochemistry (IHC) and MSI analysis methods for detection of MMR/MSI status in colorectal cancer patients in Kuantan, Pahang.
METHODS: Fifty selected CRC cases of deficient mismatch repair (dMMR) and proficient mismatch repair (pMMR) which were identified immunohistochemically in the previous study were subjected to MSI analysis. MSI Analysis System 1.2 (Promega) was utilized.
RESULTS: The results of MSI analysis method showed MSI-High: 26% (13/50), MSI-Low: 6% (3/50), and Microsatellite Stable: 68% (34/50). The concordance was perfect (0.896, Kappa value) between MSI analysis and IHC methods for the assessment of MMR/MSI status in CRC patients. The discordance was only 4% (2/50). MSI analysis identified all dMMR cases determined by IHC except one case. The obtained frequency of dMMR and pMMR patients was 11.4% (14/123) and 88.6% (109/123) by IHC method, respectively.
CONCLUSION: Our findings support the universal practice of evaluating the MMR/MSI status in all newly diagnosed CRC patients. Based on the perfect concordance of two methods, the method of choice is based on the availability of expertise and equipments. IHC is highly appreciable method due to its feasibility and reproducibility.
Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations

Sutomo R, Talib NA, Yusoff NM, Van Rostenberghe H, Sadewa AH, Sunarti, et al.

Pediatr Int, 2004 Oct;46(5):565-9.
PMID: 15491385

There are significant differences in the prevalence and severity of neonatal jaundice among various populations. Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development of neonatal jaundice in East Asian populations. However, whether the G71R mutation contributes to the high incidence of neonatal jaundice in different Asian populations remains unknown. The authors screened for this mutation in the Javanese-Indonesian and Malay-Malaysian populations.
Fulltext Disrupted-in-Schizophrenia-1 SNPs and Susceptibility to Schizophrenia: Evidence from Malaysia

Norlelawati AT, Kartini A, Norsidah K, Ramli M, Tariq AR, Wan Rohani WT

Psychiatry Investig, 2015 Jan;12(1):103-11.
PMID: 25670952 DOI: 10.4306/pi.2015.12.1.103

Even though the role of the DICS1 gene as a risk factor for schizophrenia is still unclear, there is substantial evidence from functional and cell biology studies that supports the connection of the gene with schizophrenia. The studies associating the DISC1 gene with schizophrenia in Asian populations are limited to East-Asian populations. Our study examined several DISC1 markers of schizophrenia that were identified in the Caucasian and East-Asian populations in Malaysia and assessed the role of rs2509382, which is located at 11q14.3, the mutual translocation region of the famous DISC1 translocation [t (1; 11) (p42.1; q14.3)].

Filters

Please provide feedback to Administrator ([email protected])

External Links