Search

Malnutrition and poor quality of life (QoL) in older adults are becoming a public health concern. Therefore, this review article summarised significant studies which investigated the assessment of malnutrition and QoL and its relation. A literature research on academic journals published from 2011 to 2021 was conducted by using electronic databases, which were Google Scholar, PubMed, Science Direct and SCOPUS. A total of 21 studies with 26,569 participants were identified and included in this review. The prevalence of malnutrition ranged from 1.6% to 26.5%, and poor QoL was significant amongst malnourished older adults. In conclusion, malnutrition is associated with poor QoL amongst older adults. Future studies regarding factors that influence malnutrition and its relation towards the QoL amongst older adults are needed as it will help in assisting the healthcare professions to combat these health problems.

The aim of our study was to correlate and evaluate the accuracy of Computed Tomography Urography (CTU) results with other imaging modalities in patients who presented with haematuria in 2020. Retrospectively comparison of CTU findings with ultrasound KUB(US) and cytoureteroscopy (CU) also have been made. This is a retrospective study in which all CTU cases in a total of 186 patients with hematuria in 2020 were included in this study. The data was retrieved from the PACS system at Department of Radiology in Hospital Sultanah Nur Zahirah Kuala Terengganu. Frequency of the clinical manifestation were calculated among the patients and compared between US, CU and CTU findings. A total of 186 patients with hematuria involved in this study. Demographic data on clinical information have exhibited microscopic hematuria, calculi, hydronephrosis and renal calculi yielded higher percentage with 81.7%, 82.8%, 72.0% and 63.4%, respectively. The correlation between hematuria and US together with CTU findings was not significant with p value of 0.259. The data also revealed 133 patients (71.5%) had similar US and CTU findings. Meanwhile, 76.0% patients who underwent CU also yielded consistent findings with CTU. This study demonstrated no significant correlation between CTU - US findings in the detection of causes of hematuria. However, there was a good correlation of US and CU with CTU in a detection causes of hematuria with almost equal accuracy and sensitivity.

Gout is associated with disturbed metabolic pathways which is hyperuricemia, due to the unbalanced state of purine nucleotide metabolism or excretion of uric acid by the kidney (1). Differentially targeted genes should be evaluated on their metabolic pathways and gene networking to investigate the potential biomarkers in developing the personalized medicine for gout. The study was opted to determine the differentially target genes with the regulatory mechanisms by using in silico analysis. Ten target genes were engine-searched from the published articles such as from PubMed, google scholar, ResearchGate, and Science Direct. The information from the articles were stratified according to populations in a mutual or close genetic entities from year 2012 to 2018. The ten chosen putative genes associated with gout were SLC2A9, ABCG2, SLC22A12, SLC22A11, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC16A9, and SLC5A6 which were determined their biological mechanism and gene networking by using bioinformatic tools such as the Gene Ontology Resource, STRING, and Reactome Pathway. The significant associations of the putative genes with the biological mechanism and gene networking are determined based on the p-value and FDR value. The ten chosen putative genes showed significant association with the biological mechanisms and gene networking. The result from Gene Ontology Resource database showed high significant association between the putative genes and the biological processes, molecular functions, cellular components (p-value < 0.05) as depicted in Table 1.0. The highly significant associated biological processes were the organic anion transport (9.14E-19, 7.16E-15), anion transport (2.93E-17, 1.53E-13) and urate metabolic processes (2.98E-20, 4.67E-16) along with their respective raw p-value and FDR value. Then, the highly significant associated molecular functions were the active transmembrane transporter activity (5.04E-15, 2.47E- 11), symporter activity (1.16E-13, 1.90E-10) and secondary active transmembrane transporter activity (1.80E-14, 4.40E-11) along with their respective raw p-value and FDR value. While the highly significant associated cellular components were the plasma membrane region (7.26E-09, 4.90E-06), apical plasma membrane (4.48E-13, 9.08E- 10) and apical part of cell (1.64E-12, 1.66E-09) along with their respective raw p-value and FDR value. Next, the result from STRING database as depicted in Figure 1.0 were highly significant in which all the putative genes had networking among them, such that six out of ten putative genes had the highest gene networking among the others; SLC2A9, SLC22A11, SLC22A12, SLC16A9, ABCG2, SLC17A1, and followed by the other four genes which had less gene networking; SLC17A2, SLC17A3, SLC17A4, and SLC5A6. As for the Reactome Pathway database, the result as depiced in Table 2.0 showed high significant association between the putative genes and the pathways (p-value < 0.05). The highly significant pathways were the transport of small molecules (1.00E-08, 3.34E-07), SLC-mediated transmembrane transport (1.96E-08, 3.34E-07) and organic anion transport (8.36E-06, 9.19E-05) along with their respective raw p-value and FDR value. In conclusion, the study revealed the role of putative targeted genes in the biological mechanism in gout pathogenesis has provides insight of the potential biomarkers in developing the personalized medicine better treatment for gout patient in ensuring better patient healthcare.

Autism Spectrum Disorder (ASD) is defined as a group of pervasive neurodevelopmental disorders that include significantly impaired functioning in terms of cognitive skills and socialization, verbal and receptive communication, and repetitive behaviors. Several problems arise when handling children with ASD which of them is related to eating behavior. The challenges in daily life that need to be faced by parents of ASD children during mealtime are increased food selectivity, food refusal, and problematic mealtime behaviors. A cross-sectional study was carried out to identify prevalence of child’s behavioural feeding problems, body mass index and mental health issue experience by both parents and children with ASD in Malaysia. A total of 213 parents participated in this study. Data on sociodemographic, eating behavior were collected using a questionnaire. Respondents completed the self-reported Sociodemographic form, anthropometry form and Behavioral Paediatric Feeding Assessment Scale (BPFAS) questionnaire, Strength and Difficulty questionnaire and answer 10-item perceived stress scale to evaluate the intended measures. The prevalence abnormal of eating behavior is higher among the participants was 80.8% (n=172). For BMI, 49.8% (n=106) of the respondents reported the highest prevalence of overweight. Peer and pro-social problems were the most frequently reported mental health issues among ASD children, but emotional, behaviour, and hyperactivity issues were reported less frequently. The majority of parents surveyed in this study assessed themselves to be under considerable stress (93.4 percent). In conclusion, this cross-sectional study demonstrated a high frequency of behavioural feeding difficulties, mental health concerns, and obesity among children with autism spectrum disorders in Malaysia. The findings from this study will contribute to the body of information regarding the nutritional health of children with autism spectrum disorders. The increased prevalence of overweight and obesity in children with ASD is one of the indicators that this study should investigate additional factors that may influence children's weight status.

BCR ABL oncogene encodes the BCR-ABL chimeric protein, which is a constitutively activated non-receptor tyrosine kinase. The BCR-ABL oncoprotein is a key molecular basis for the pathogenesis of chronic myeloid leukemia (CML) via activation of several downstream signaling pathways including JAK/STAT pathway. Development of leukemia involves constitutive activation of signaling molecules including, JAK2, STAT3, STAT5A and STAT5B. Thymoquinone (TQ) is a bioactive constituent of Nigella sativa that has shown anticancer properties in various cancers. The present study aimed to evaluate the effect of TQ on the expression of BCR ABL, JAK2, STAT3, STAT5A and STAT5B genes and their consequences on the cell proliferation and apoptosis in K562 CML cells.BCR-ABL positive K562 CML cells were treated with TQ. Cytotoxicity was determined by Trypan blue exclusion assay. Apoptosis assay was performed by annexin V-FITC/PI staining assay and analyzed by flow cytometry. Transcription levels of BCR ABL, JAK2, STAT3, STAT5A and STAT5B genes were evaluated by reverse transcription-quantitative polymerase chain reaction (RT-qPCR). Protein levels of JAK2 and STAT5 were determined by Jess Assay analysis.TQ markedly decreased the cell proliferation and induced apoptosis in K562 cells (P0.001) in a concentration dependent manner. TQ caused a significant decrease in the transcriptional levels of BCR ABL, JAK2, STAT3, STAT5A and STAT5B genes (P0.001). TQ induced a significant decrease in JAK2 and STAT5 protein levels (P0.001).our results indicated that TQ inhibited cell growth of K562 cells via downregulation of BCR ABL/ JAK2/STAT3 and STAT5 signaling and reducing JAK2 and STAT5 protein levels.

This study sought to determine the potential role of HBB haplotypes to predict beta-thalassemia in the Malaysian population. A total of 543 archived samples were selected for this study. Five tagging SNPs in the beta-globin gene (HBB; NG_000007.3) were analyzed for SNP-based and haplotype association using SHEsis online software. Single-SNP-based association analysis showed three SNPs have a statistically significant association with beta-thalassemia. When Bonferroni correction was applied, four SNPs were found statistically significant with beta-thalassemia; IVS2-74T>G (padj = 0.047), IVS2-16G>C (padj = 0.017), IVS2-666C>T (padj = 0.017) and 3’UTR + 314G>A (padj = 0.002). However, 3'UTR + 233G>C did not yield a significant association with padj value = 0.076. Further investigation using combined five SNPs for haplotype association analysis revealed three susceptible haplotypes with significant p values of which, haplotypes 1-2-2-1-1 (p = 6.49 × 10−7, OR = 10.371 [3.345–32.148]), 1-2-1-1-1 (p = 0.009, OR = 1.423 [1.095–1.850] and 1-1-1-1-1 (p = 1.39 × 10−4, OR = 10.221 [2.345–44.555]). Three haplotypes showed protective effect with significant p value of which, 2-2-1-1-1 (p = 0.006, OR = 0.668 [0.500–0.893]), 1-1-2-2-1 (p = 0.013, OR = 0.357 [0.153–0.830]) and 1-1-2-1-1 (p = 0.033, OR = 0.745 [0.567–0.977]). This study has identified the potential use of intragenic polymorphic markers in the HBB gene, which were significantly associated with beta-thalassemia. Combining these five SNPs defined a new haplotype model for beta-thalassemia and further evaluation for predicting severity in beta-thalassemia.

Periodontitis is an infectious and inflammatory condition that is associated with subgingival biofilms in tooth-supporting tissues. Among the several hundred isolated organisms in the oral cavity, one of the most isolated bacteria from infected periodontal pockets are Aggregatibacter actinomycetemcomitans. It is a Gram-negative, facultative anaerobic bacillus that causes juvenile (localized aggressive periodontitis) and adolescent periodontal diseases. The development of biofilms is an essential factor in pathogenesis for A. actinomycetemcomitans. The early attachment of A. actinomycetemcomitans to abiotic surfaces relies on its protein-like fimbriae. This organism's ability to form tenacious biofilms can determine its survival and progression. A. actinomycetemcomitans, a pathogen not solely in periodontal but also involve in some systemic infections. This species has several virulence factors and genes that contribute to its oral cavity survival and, worst of all, cause bone resorption and tooth loss. Genetic diversity between the different A. actinomycetemcomitans isolates are great, and their ability to express and release virulence factors varies. In this review article, we discuss about the potential virulence factors and candidates genes for A. actinomycetemcomitans and their roles within periodontal disease by revealing their functional biology in facilitating attachment to oral surfaces, hindering protection of the host and causing inflammation and degradation of tissue.

Genetic studies have reported the association between polymorphism in MYO1H with mandibular prognathism. MYO1H is found in skeletal muscle sarcomeres and is expressed in the mandibular jaw cartilage signifying its importance during craniofacial development. This study aimed to characterise the genotype and allele of MYO1H single nucleotide polymorphism (SNP) (rs3825393) and to associate the SNP with mandibular prognathism in Class III skeletal malocclusion. This was a case-control study, which involved 57 Malay subjects with 30 Class I (control) and 27 Class III skeletal base patients (case). Cephalometric measurements were taken prior to collection of saliva samples. MYO1H SNP (rs3825383) was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Chi-square (χ2) test was used to compare genotype and allele frequencies between the groups while Hardy-Weinberg Equilibrium (HWE) was applied to assess distribution of genotype frequency in both classes. MYO1H SNP (rs3825393) did not yield significant association with mandibular prognathism with p = 0.33; OR = 0.66; 95% CI = 0.289~1.518, that was reflected by no significant difference in allele (p > 0.05) and genotype (p > 0.05) frequency between control and study group. Nevertheless, AA genotype depicted the highest frequency in both groups. The genotype distribution in both groups was in concordance with HWE (p > 0.05). Our data showed no association of MYO1H SNP (rs3825393) with mandibular prognathism. Interestingly, we observed Allele A representing the major allele in Malay population. Presence of MYO1H SNP (rs3825393) was detected in samples analysed. Larger number of samples is required to confirm the involvement of MYO1H polymorphisms in mandibular prognathism.

One of the method in complementary and alternative medicine (CAM) is Ruqyah Syar’iyyah by reciting Quranic verses in the treatment. As the Holy Quran is the eternal miracle which challenged the worlds and effects all creatures in general, this study is aimed to disclose the effects of reciting Ruqyah Shar’iyyah as a treatment by evaluating the proliferation of breast cancer cell lines. The spiritual treatment was shown to improve the quality of life that give better impacts to emotion and physical as well as increase immunity. This study applied the experimental method where MCF-7 cells were divided into two groups; the control and the treatment group. During the treatment sessions, a compilation of several quranic verses were recited by using the speakers. The study demonstrated that the cell proliferation percentage of the treatment group for both treatment periods (12 and 24 hour) decreased compared to the control group. This empirical study proved the miracolous effects of Holy Quran on breast cancer cell lines. The study suggest the longer treatment times and repeated treatments would provide significant results for a higher grade cancer cells such as MCF-7 used in this study.

Most of the beta thalassaemia cases are heterogeneous at the molecular level. The genetic variation arises due to the mutation of a single beta-globin gene (HBB) on chromosome 11p15.5. Eventhough, the basis and natural history of this disorder are still not well understood and the clinical presentation in certain patients was not always correlated well with the single gene diagnosis [1]. The study aimed to evaluate the predisposing effect of HBB polymorphisms and their haplotypes in conferring beta-thalassaemia in Malaysia using a bioinformatics tool. Archived genotype data for five tagging SNPs of HBB gene assigned as c.9T/C, IVS2-16G/C, IVS2-74T/G, 3'UTR +314G/A and 3'UTR +316A/C across thalassaemia patient group (n=433) and normal control group (n=794) controls were retrieved from the year 2011 to 2016 at Institute for Medical Research (IMR). The genotype data were analysed for individual SNP-based association analysis and haplotype-based association analysis using SHEsis online software. The study in all races in Malaysia showed significant association in four SNPs of the HBB gene (c.9T/C, P-value = 0.014; IVS2-16G/C, P-value = 0.017; 3'UTR+314G/A, P value = 2.08x108; 3'UTR+316A/C, P-value = 0.021). However, IVS2-74T/G did not show significant association with a P-value of 0.763 (Table 1). We further revealed two susceptible haplotypes in all races (haplotype TGTAA, P-value = 1.68x10-7, OR = 2.382 [1.707~3.325]; haplotype CCTGC, P-value = 0.003, OR = 1.300 [1.089~1.551]). Meanwhile, one protective haplotype observed was haplotype TGTGA (P-value = 2.99x10-7, OR = 0.625 [0.522~0.749]) (Table 2). In conclusion, this study suggests the potential susceptible and protective haplotypes of the HBB gene in predisposing to beta-thalassaemia in Malaysia

Iron homeostasis is regulated by hepcidin (HEPC) that controls the dietary iron absorption and iron recycling. HEPC deficiency contributes to iron overload in β-thalassemia patients. The present study aimed to investigate the correlation between HEPC concentration and serum iron status among hemoglobin E (HbE)/β-thalassemia patients and their parents (HbE trait and β-thalassemia trait) compared with healthy controls. This study is a comparative cross-sectional study in which iron profile and HEPC level were examined in 65 HbE/β-thalassemia patients (pretransfusion) and 65 parents at the Hospital Sultanah Nur Zahirah and in 130 students as healthy controls from Univesiti Sultan Zainal Abidin, Terengganu, Malaysia. Furthermore, six samples from each group (HbE/β-thalassemia patients, parents and healthy controls) were randomly selected for gene expression analysis of HEPC and ferroportin1 (FPN1) using reverse transcription quantitative PCR. The results demonstrated that serum HEPC level were significantly decreased in HbE/β-thalassemia patients and their parents (P

الملخص: أهداف البحث: تهدف هذه الدراسة لتحديد الرابطة الأليلية والوراثية للجين rs62659) Val66Met) المتعدد الأشكال في جين عامل التغذية العصبية المشتق من الدماغ مع مستوى التوتر لطلاب الطب في المرحلة قبل السريرية في جامعة السلطان زين العابدين، تيرينجانو، ماليزيا. طرق البحث: في هذه الدراسة المستعرضة، تم ضم ١٢٢ طالبا من جميع طلاب المرحلة قبل السريرية. كما تم توزيع استبانة مقياس الاكتئاب والقلق والتوتر المحققة ٢١، وتم أخذ عينات الدم من كل طالب لاستخراج الحمض النووي. ثم عُمل تحليل التنميط الجيني لجين عامل التغذية العصبية المشتق من الدماغ المتعدد الأشكال باستخدام تفاعل البلمرة المتسلسل المحسن بطريقة تقييد طول الجزء المتعدد الأشكال. النتائج: وافق ١٠٥ طالبا على المشاركة في هذه الدراسة. وكان لدى الطلاب الهنود النمط الوراثي Val ⁄ Val أكثر بكثير، بينما كان لدى طلاب الملايو النمط الوراثي Met/Met. واختلفت الأنماط الوراثية الثلاثة لعامل التغذية العصبية المشتق من الدماغ (Met Val/ ,Val⁄Val وMet⁄Met) اختلافا كبيرا من حيث مستوى التوتر الملحوظ؛ والطلبة الذين يحملونالنمط الوراثي Val⁄ Val (م= ١٠.٦) كما لوحظ أنهم أقل توترا بشكل ملحوظ بالمقارنة بالطلبة الذين يحملون النمط الوراثي Val/ Met (م = ١٤) والنمط الوراثي Met⁄Met (م =١٥.١). الاستنتاجات: في دراستنا، كان الموروث Met مرتبطا بمستوى عالي من التوتر. وعلى حد علمنا، هذه أول دراسة بحثت في هذا المجال عالميا. يجب أن تحفز نتائج هذه الدراسة الباحثين للتركيز على تأثير التوتر على طلاب الطب تحت التأثيرات المحتملة للجينات. Abstract: Objective: This study aimed to determine the allelic and genotypic association of the Val66Met (rs6265) polymorphism in the BDNF gene with stress levels in preclinical medical students of Universiti Sultan Zainal Abidin (UniSZA), Terengganu, Malaysia. Methods: In this cross-sectional study, we recruited all 122 preclinical medical students. The validated depression anxiety stress scales-21 (DASS-21) questionnaire was distributed and blood samples were collected from each subject for DNA extraction. Genotyping analysis of the BDNF gene (Val66Met) polymorphism was performed via an optimised polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: A total of 105 subjects agreed to participate in this study. Indian students were found to more likely have the Val/Val genotype, whereas Malay students were more likely to have the Met/Met genotype (p = 0.027). Individuals carrying any one of the three BDNF genotypes (Val/Val, Val/Met and Met/Met) differed significantly from each other in terms of their perception of stress (p = 0.010); students carrying the Val/Val genotype (M = 10.6) perceived significantly lower stress than students carrying the Val/Met (M = 14) and Met/Met (M = 15.1) genotypes. Conclusion: In our study, the Met-allele was associated with higher stress levels. To the best of our knowledge, this is the first study investigating this stress-related gene in medical students. The findings from this study should trigger more investigators to focus on the impact of stress on genetically predisposed medical students. الكلمات المفتاحية: عامل التغذية العصبية المشتق من الدماغ, التوتر, الأكسدة, طلاب الطب, Keywords: BDNF, Medical students, Oxidative stress, Stress, Val66Met

The natural compound, thymoquinone (TQ) has demonstrated potential anticancer properties in inhibiting cell proliferation and promoting apoptosis in myeloid leukemia cells, breast cancer cells, and others. However, the effect mechanism of TQ on AML cells still not fully understood. In this study, the authors examined the effects of TQ on the expression of JAK/STAT-negative regulator genes SOCS-1, SOCS-3, and SHP-1, and their consequences on cell proliferation and apoptosis in HL60 leukemia cells. MTT and trypan blue exclusion tests were conducted to determine the 50% inhibitory concentration (IC50) and cell proliferation. FITC Annexin and Guava® reagent were used to study the cell apoptosis and examine the cell cycle phases, respectively. The expression of JAK/STAT-negative regulator genes, SOCS-1, SOCS-3, and SHP-1, was investigated using reverse transcriptase- quantitative PCR (RT-qPCR). TQ demonstrated a potential inhibition of HL60 cell proliferation and a significant increase in apoptotic cells in dose and time-dependent manner. TQ significantly induced cycle arrest at G0-G1 phase (P < 0.001) and enhanced the re-expression of JAK/STAT-negative regulator genes. TQ potentially inhibited HL60 cell proliferation and significantly increased apoptosis with re-expression of JAK/STAT-negative regulator genes suggesting that TQ could be a new therapeutic candidate for leukemia therapy.. This work was funded by the Fundamental Research Grant Scheme of the Ministry of Education, Malaysia [FRGS/1/2019/SKK08/UNISZA/02/3 (RR330)].

Background: Acute myeloid leukemia is a hematological disorder distinguished by clonal expansion of undifferentiated myeloid precursors leading to impaired haematopoiesis. The presence of various types of genetic mutations and chromosomal abnormalities in AML are among the critical factors affecting clinical outcomes and response to induction and post-remission treatment. Aim: In this review, we collate the findings from previous literatures regarding the effects of cytogenetics and molecular mutations on the response to induction (either lower or intensified) treatment. In addition to the gene mutations in AML that influence the clinical decisions for post-remission treatment, we also focus on the prognostic significance of several members of inhibitor of apoptosis protein (IAP) family as well as their endogenous inhibitor, Smac/DIABLO that have shown great promise as a marker in predicting response to AML treatment regimen from the associated publications. Conclusion: Incorporating this knowledge into the clinical settings is important enough in order to improve the disease outcome and clinical management of patients with AML.

Stunting defined as anthropometrically as height-for-age Z-score (HAZ) with less than 2 standard deviation (SD) has been observed more prevalent in children in developing countries that reflect the linear growth failure. It was estimated that the prevalence of stunting in Asian countries ranges from 30% - 69%. Stunting occurs due to the interplay of genetic and environmental factors. The susceptible genes involve in hormone signalling, paracrine factor, matric molecules, intercellular pathways and cellular processes of epiphyseal growth plate. Many genetic studies conducted among stunted children has elucidated the role of genes in affecting the attribute factors such as low birth weight, socio-economy, poor preventive health care and others. Whole genome sequencing revealed potential putative genes which involve in different pathways in related to retarded epiphyseal growth plate in various Asian countries such GHSR, GH1, GHRHR, STAT5B, IGF1, COMP and many more associated genes. The data emphasize that these potential genetic markers may provide better treatment in targeting the related pathophysiology in stunting development. In this current national implementation, genetic testing has not yet been permeated to the clinical practice for a standard evaluation since lack of genetic studies on stunting genes conducted in Asian countries, particularly Malaysia.

Background and aims Peroxisome proliferator-activated receptor Ɣ2 (PPARƔ2) gene Pro12Ala polymorphism has been extensively studied in relation to obesity and its associated metabolic complications but the results were inconclusive. This study aimed to identify the genotypic and allelic frequencies of PPARƔ2 gene and its association with anthropometric measurements, lipid profiles and the susceptibility for obesity in Malay subjects. Methods and results This cross-sectional, comparative study involved 217 subjects (94 obese and 123 non-obese as controls). Anthropometric and lipid profiles were measured. Genotyping was performed by allele-specific PCR. Comparisons were made between the genotypes and the association of PPARƔ2 Pro12Ala polymorphism with obesity was evaluated. The Pro12Pro, Pro12Ala and Ala12Ala genotypic frequencies were significantly different between groups (88.3%/11.7%/0.0% vs. 97.6%/2.4%/0.0% respectively, P = 0.006).The Ala12 allele was more frequent in obese than the non-obese (5.9% vs. 1.1%, P = 0.007). Ala12 carriers were associated with higher BMI ( P = 0.016), BF% ( P = 0.019) and a trend towards higher BAI ( P = 0.055) than the non-carriers. Besides age, high level of triglycerides and LDL-cholesterol, Ala12 allele (Adjusted OR = 5.46, 95% CI = 1.27–23.40; P = 0.022) were regarded as independent risk factors for obesity. Conclusions This study indicates that the PPARƔ2 gene Pro12Ala polymorphism predisposes to obesity in Malay subjects and Ala12 allele could predict alterations in adipocyte and lipid metabolism among them. Age, triglycerides, LDL-cholesterol and Ala12 allele conferred to increased risk for obesity in this ethnicity.

Background: Epigenetic silencing of tumor suppressor genes (TSG) is involved in development and progression of cancers. Re-expression of TSG is inversely proportionate with STAT3 signaling pathways. Demethylation of DNA by 5-Azacytidine (5-Aza) results in re-expression of silenced TSG. Forced expression of PRG2 by 5-Aza induced apoptosis in cancer cells. Imatinib is a tyrosine kinase inhibitor that potently inhibits BCR/ ABL tyrosine kinase resulting in hematological remission in CML patients. However, majority of CML patients treated with imatinib would develop resistance under prolonged therapy. Methods: CML cells resistant to imatinib were treated with 5-Aza and cytotoxicity of imatinib and apoptosis were determined by MTS and annexin-V, respectively. Gene expression analysis was detected by real time-PCR, STATs activity examined using Western blot and methylation status of PRG2 was determined by pyrosequencing analysis. Result: Expression of PRG2 was significantly higher in K562-R+5-Aza cells compared to K562 and K562-R (p=0.001). Methylation of PRG2 gene was significantly decreased in K562-R+5-Aza cells compared to other cells (p=0.021). STAT3 was inactivated in K562-R+5-Aza cells which showed higher sensitivity to imatinib. Conclusion: PRG2 gene is a TSG and its overexpression might induce sensitivity to imatinib. However, further studies are required to evaluate the negative regulations of PRG2 on STAT3 signaling.

This paper aims at revealing the Human Genome Project (HGP) and human genetic issues arising from science and Islamic perspectives such as Darwin's evolutionary theory, human cloning and eugenics. Finally, issues arising from the applications of human genetic technology need to be addressed to the best possible way through ethics in science as well as through integration of Islamic teachings so that all achievements of this field do not spoil the nature and human populations. This in turn will make human life become better and more conducive from time to time. Keywords : human genetics; Darwinism; human cloning; human genome project; eugenics.

Aqeedah is one of Islamic knowledge foundations (apart from shariah and akhlaq) that covers all aspects of human life, which was rooted from revealed al-Quran and al-Sunnah. It covers the knowledge on human relation to Allah SWT; obeying His commands and leaving all prohibited deeds. This paper intends to reveal the implementation of Malaysia Shariah Index (MSI), Islamic aqeedah concept as well as the Islamic aqeedah compliance index requirement, as a second filter in modern scientific research ethics, which is based on Maqasid Shariah (MS). Generally, IACI development proposal suits the Malaysian government policy regarding MSI and it is suitable to be applied in various field of studies.

In Islam, sharia and akhlaq are very fundamental in its teaching and so is aqeedah. It is another significant foundation and the three are inter-linked to each other. Aqeedah forms the basis of iman (firm belief), hence if one of the components is missing, one’s iman is lost or later becomes unbalanced. The basis of this study was to address the prevalent issues of Islamic aqeedah, its concepts and their relevancy in the study of Malay genome in Malaysia. Besides, needs consideration were also discussed in implementing aqeedah-compliance index when conducting genome studies and researches so that they will not contradict the Islamic ethics and faith. This is also to avoid the destruction of humanity and also capable of providing a system that will solve the problems of humanity. In Malaysia, the studies of Malay genome have been administered by the Centre for Pharmacogenomics (iPROMISE), Faculty of Pharmacy, UiTM Puncak Alam Campus, Selangor Malaysia and the Faculty of Applied Science, UiTM Shah Alam Campus, Selangor Malaysia. Overall, researches on Malay genome have successfully developed a database of Malay genetic structure to help developing new drugs and vaccines, diagnosing diseases as well as providing links for these diseases to drugs commonly used for treating. Apparently, much effort has been made to determine the role of genetic variation and its imbalance patterns towards diseases.

Introduction and aim Increased mammographic density is a strong and independent attribute factor for breast carcinoma. The density is associated with epithelial cell proliferation and stromal fibrosis development that is regulated by Transforming Growth Factor-Beta 1 (TGF-β1). This study was aimed to fine map the TGF-β1 gene cluster in predicting the role of predisposing haplotypes in breast density development using tagging SNPs. Materials and methods Genotyping was conducted for three tagging TGF-β1 SNPs assigned as rs1800469, rs1800470 and rs4803455 in a total of 50 consented female participants as case group which involved BI-RADS 3 and 4, while the control group (n = 50) consisted of BI-RADS 1 and 2 who underwent a mammography check-up at The Department of Radiology, Hospital Sultanah Nur Zahirah of Kuala Terengganu. A series of bioinformatics analysis including individual SNP-based association analysis, haplotype-based association analysis and fine mapping analysis was conducted spanning the gene region of 20 kb utilizing Chinese Hans Beijing (CHB) and Japanese (JPT) representing the Asian dataset from the HapMap database. Results The study demonstrated two tagging SNPs of TGF-β1 yielded a significant association (rs1800469, p-value = .034; rs1800470, p-value = .004). However, rs4803455 did not show a significant association with p value of 0.053. We further revealed the susceptible haplotype that was assigned as haplotype GGA with significant P value 0.003 indicated by odd ratio of 3.349 (1.482–7.568). A potential protective haplotype was observed in haplotype AGC with odd ratio 0.585 (0.316–1.080) even though with less significant (p = .085). The fine map revealed four targeted SNPs in which consist of rs12461895, rs10416269, rs7408955 and rs1549934 from Block 2 and five potential SNPs from Block 4 assigned as rs4803457, rs2317130, rs1166933, rs1982072, rs11670143 as another potential genetic variant that might contribute to breast density. Discussion This fine map study suggests the potential protective haplotype and genetic variants of TGF-β1 in predisposing to breast density development which is worth to be genotyped and further investigated.

Ventricular septal defect (VSD) is the most common form of cardiac malformations accounting approximately 20% of all congenital heart defects. SMAD7 is an inhibitory protein that antagonizes the signalling of TGF-β family member and has been found in the development and function of mouse heart models. This study aims to screen and identify the polymorphisms of SMAD7 exonic regions in Malay population with VSD. Peripheral blood samples were collected and extracted from 30 clinically diagnosed VSD patients. PCR amplification was performed using 12 sets of designed primers encompassing seven exons of SMAD7. Re-sequencing was conducted to characterize the polymorphisms of SMAD7. Observed polymorphisms were then genotyped in 30 healthy individuals using both re-sequencing and allele-specific PCR techniques. A total of 10 variants were identified in the patient population located in the upstream (rs7236774), exonic (rs368427729, rs145686330, rs3764482, rs3809922, rs780863704 and rs3809923), intronic (rs3736242) and 3’UTR regions (rs375444823 and rs16950113). No significant difference of genotype and allele frequency was observed among these SNPs. Two synonymous variants (rs3809922 and rs3809923) were found in complete linkage disequilibrium (r2=1.0) with each other indicate a strong correlation of these SNPs. The identification of these SNPs provides a new perspective of the VSD causation.

Loop-Mediated Isothermal Amplification (LAMP), through its uniqueness has provided the world with a powerful molecular diagnostic tool. This innovative gene amplification technique, amplifies nucleic acid at a very rapid pace, maintaining high sensitivity, specificity and efficiency. The most innovative features of LAMP, is the simplicity of its protocol, and overall low cost of application. Other features of LAMP are highlighted in this review, though with few limitations. The demerits include highly technical and cumbersome primer design protocol, and relative scarcity of some materials needed for the technique. The standout features however, ranges from the strand displacement activity of the Bst and Bsm polymerase enzymes, to its ability to amplify gene in an unprocessed samples. The PCR and other several pre-existing techniques, has contributed immensely in disease diagnosis and molecular biology at large. However, their use in molecular diagnostics is mostly limited to highly resourced establishment, leaving the low resourced settings with little or no hope. The cheapness and user-friendliness of LAMP amongst other advantages made it an ideal diagnostic tool that provides solution to the odds of PCR and its likes. The outstanding qualities displayed by LAMP in various researches, has led to several modifications in the technique. Presently several forms of LAMP kits, such as Lyophilized LAMP Kit, electric LAMP device (eLAMP), and combined use of LAMP and Lateral Flow Assay (LFA), are been adopted for diagnosis of many pathogens.

Garcinia praniana comes from the family Gruttiferae and has been listed as one of the endangered species under IUCN Red Listed of Threatened Species. The present study was Aimed to evaluate the potential antioxidant, antimicrobial and phytochemicals content (TPC and TFC) of leaves, twig and fruit of Garcinia prainiana by ethyl acetate extract. Antioxidant activity was tested using free radical diphenylpicrylhydrazyl (DPPH) assay and showed the highest inhibition at 0.4 mg/ml for both leaves extract (77.41%) and fruit extract (36.02%) respectively. Meanwhile, for twig, the highest percentage of inhibition was at 0.5 mg/ml for 39.78%. Among all samples tested, IC50 was only recorded for leaves extract of Garcinia prainiana at 0.19 mg/ml compared to Trolox at 0.023 mg/ml. Potential antimicrobial activity of the extracts were carried out using disc diffusion method against 3 type of gram-positive and 4 type of gram-negative bacteria. Results have indicated that 100 mg/ml of leaves extract showed antimicrobial activity against Escherichia coli ATCC 35218, Staphylococcus aureus ATCC 33591, Bacillus cereus ATCC 14579, and Acinetobacter baumannii ATCC 19606. In contrast, twig and fruit showed weak antimicrobial activity against a few bacteria strains. Quantitative phytochemicals content were also carried out to measure compounds presence in Garcinia prainiana ethyl acetate extract. Total phenolic contents of the extracts were measured by Folin-Ciocalteau method. The highest phenolic compound presence was recorded from leaves extract (86.047 ± 3.039 mg/g) followed by fruit extract (21.811 ± 5.022 mg/g) and twig extract (2.512 ± 3.446 mg/g). In addition, the highest flavonoid content was recorded in fruit extract (73.188± 1.056 mg/g) followed by twig extract (49.932 ± 3.057 mg/g) and leaves extract (26.676 ± 2.062 mg/g). From this study, total phenolic content showed a good correlation with antioxidant activity, but not with total flavonoid content.

Deoxyribonuclease II (DNASE2) is a lysosomal enzyme responsible for degrading DNA released from cells during erythropoiesis or apoptosis.1 DNASE2 mouse knockouts develop chronic polyarthritis similar to human rheumatoid arthritis (RA), including rheumatoid factor (RF).2 Association has been reported between three single nucleotide polymorphisms (SNPs; rs11085823 , rs12609744 and rs249143 ) in tight linkage disequilibrium within the DNASE2 promoter and RA in German Caucasian samples, with differential association according to RF status.3 With the aim of replicating the previous findings,3 rs12609744 , chosen because HapMap data were available for imputation, was genotyped using a TaqMan assay (Applied Biosystems, Foster City, California, USA) in New Zealand and UK Caucasian case-control samples,4 5 and imputed genotype data retrieved from a genome-wide scan (table 1).6 No evidence for association was found in any of the sample sets (OR 0.93–0.99, p = 0.27–0.97) (table 1). In meta-analysis using a …

Contains fulltext : 98409.pdf (Publisher’s version ) (Closed access) OBJECTIVE: Recently, a functional PTPN22 variant (R263Q; rs33996649) was found to be associated with systemic lupus erythematosus (SLE). This study was undertaken to analyze the influence of this polymorphism on the risk of rheumatoid arthritis (RA). METHODS: RA patients (n = 5,579) were recruited from outpatient clinics from 6 different countries (Spain, New Zealand, the UK, Norway, The Netherlands, and Germany). Healthy controls (n = 5,392) were recruited from the same areas. There was 100% power to detect an effect equivalent to that observed in SLE. Samples were genotyped for the PTPN22 R263Q (rs33996649) and PTPN22 R620W (rs2476601) polymorphisms using a TaqMan 5'-allele discrimination assay. The effect of the R263Q variant was analyzed in isolation and in combination with the effect of R620W, using Unphased and Stata 10 software. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were determined. RESULTS: The minor allele A of PTPN22 R263Q was significantly associated with a lower risk of RA in the pooled analysis of the 6 populations (P = 0.016, Mantel-Haenszel pooled OR 0.80 [95% CI 0.67-0.96]), independent of the effect of the R620W polymorphism. Both polymorphisms had an additive effect. The more RA risk alleles carried (R263Q G allele, R620W T allele), the higher the RA risk (for 2 versus 1 risk allele P = 0.014, OR 1.28 [95% CI 1.05-1.55], for 3 versus 1 risk allele P = 6.67 x 10(-11) , OR 2.01 [1.63-2.48], and for 4 versus 1 risk allele P = 6.50 x 10(-11) , OR 3.55 [2.42-5.20]). CONCLUSION: Our findings indicate that the minor allele of the PTPN22 R263Q polymorphism is associated with a lower risk of RA. This association is independent of the well-established association between PTPN22 R620W and RA. Both polymorphisms have an additive effect on the risk of RA.