Displaying publications 81 - 100 of 355 in total

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  1. Fulltext Whole-genome noncoding sequence analysis in T-cell acute lymphoblastic leukemia identifies oncogene enhancer mutations
    Hu S, Qian M, Zhang H, Guo Y, Yang J, Zhao X, et al.
    Blood, 2017 Jun 15;129(24):3264-3268.
    PMID: 28408461 DOI: 10.1182/blood-2017-03-771162
    Publisher's Note: There is an Inside Blood Commentary on this article in this issue.
    Matched MeSH terms: Genome-Wide Association Study*
  2. Fulltext Association of ESR1 Germline Variants with TP53 Somatic Variants in Breast Tumors in a Genome-wide Study
    Tjader NP, Beer AJ, Ramroop J, Tai MC, Ping J, Gandhi T, et al.
    Cancer Res Commun, 2024 Jun 27;4(6):1597-1608.
    PMID: 38836758 DOI: 10.1158/2767-9764.CRC-24-0026
    In breast tumors, somatic mutation frequencies in TP53 and PIK3CA vary by tumor subtype and ancestry. Emerging data suggest tumor mutation status is associated with germline variants and genetic ancestry. We aimed to identify germline variants that are associated with somatic TP53 or PIK3CA mutation status in breast tumors. A genome-wide association study was conducted in 2,850 women of European ancestry with breast cancer using TP53 and PIK3CA mutation status (positive or negative) as well as specific functional categories [e.g., TP53 gain-of-function (GOF) and loss-of-function, PIK3CA activating] as phenotypes. Germline variants showing evidence of association were selected for validation analyses and tested in multiple independent datasets. Discovery association analyses found five variants associated with TP53 mutation status with P values <1 × 10-6 and 33 variants with P values <1 × 10-5. Forty-four variants were associated with PIK3CA mutation status with P values <1 × 10-5. In validation analyses, only variants at the ESR1 locus were associated with TP53 mutation status after multiple comparisons corrections. Combined analyses in European and Malaysian populations found ESR1 locus variants rs9383938 and rs9479090 associated with the presence of TP53 mutations overall (P values 2 × 10-11 and 4.6 × 10-10, respectively). rs9383938 also showed association with TP53 GOF mutations (P value 6.1 × 10-7). rs9479090 showed suggestive evidence (P value 0.02) for association with TP53 mutation status in African ancestry populations. No other variants were significantly associated with TP53 or PIK3CA mutation status. Larger studies are needed to confirm these findings and determine if additional variants contribute to ancestry-specific differences in mutation frequency.

    SIGNIFICANCE: Emerging data show ancestry-specific differences in TP53 and PIK3CA mutation frequency in breast tumors suggesting that germline variants may influence somatic mutational processes. This study identified variants near ESR1 associated with TP53 mutation status and identified additional loci with suggestive association which may provide biological insight into observed differences.

    Matched MeSH terms: Genome-Wide Association Study*
  3. Fulltext Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel
    Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, et al.
    PLoS One, 2014;9(4):e93409.
    PMID: 24690944 DOI: 10.1371/journal.pone.0093409
    Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a targeted gene panel of 355 genes for investigating the genetic etiology of eight patients with a wide range of phenotypes including DD/ID, congenital anomalies and/or autism spectrum disorder. Targeted sequence enrichment was performed using the Agilent SureSelect Target Enrichment Kit and sequenced on the Illumina HiSeq2000 using paired-end reads. For all eight patients, 81-84% of the targeted regions achieved read depths of at least 20×, with average read depths overlapping targets ranging from 322× to 798×. Causative variants were successfully identified in two of the eight patients: a nonsense mutation in the ATRX gene and a canonical splice site mutation in the L1CAM gene. In a third patient, a canonical splice site variant in the USP9X gene could likely explain all or some of her clinical phenotypes. These results confirm the value of targeted MPS for investigating DD/ID in children for diagnostic purposes. However, targeted gene MPS was less likely to provide a genetic diagnosis for children whose phenotype includes autism.
    Matched MeSH terms: Genome-Wide Association Study*; Genetic Association Studies
  4. Exome sequencing and array-based comparative genomic hybridisation analysis of preferential 6-methylmercaptopurine producers
    Chua EW, Cree S, Barclay ML, Doudney K, Lehnert K, Aitchison A, et al.
    Pharmacogenomics J, 2015 Oct;15(5):414-21.
    PMID: 25752523 DOI: 10.1038/tpj.2015.9
    Preferential conversion of azathioprine or 6-mercaptopurine into methylated metabolites is a major cause of thiopurine resistance. To seek potentially Mendelian causes of thiopurine hypermethylation, we recruited 12 individuals who exhibited extreme therapeutic resistance while taking azathioprine or 6-mercaptopurine and performed whole-exome sequencing (WES) and copy-number variant analysis by array-based comparative genomic hybridisation (aCGH). Exome-wide variant filtering highlighted four genes potentially associated with thiopurine metabolism (ENOSF1 and NFS1), transport (SLC17A4) or therapeutic action (RCC2). However, variants of each gene were found only in two or three patients, and it is unclear whether these genes could influence thiopurine hypermethylation. Analysis by aCGH did not identify any unusual or pathogenic copy-number variants. This suggests that if causative mutations for the hypermethylation phenotype exist they may be heterogeneous, occurring in several different genes, or they may lie within regulatory regions not captured by WES. Alternatively, hypermethylation may arise from the involvement of multiple genes with small effects. To test this hypothesis would require recruitment of large patient samples and application of genome-wide association studies.
    Matched MeSH terms: Genome-Wide Association Study
  5. Fulltext Identification and analysis of expressed sequence tags present in xylem tissues of kelampayan (Neolamarckia cadamba (Roxb.) Bosser)
    Ho WS, Pang SL, Abdullah J
    Physiol Mol Biol Plants, 2014 Jul;20(3):393-7.
    PMID: 25049467 DOI: 10.1007/s12298-014-0230-x
    The large-scale genomic resource for kelampayan was generated from a developing xylem cDNA library. A total of 6,622 high quality expressed sequence tags (ESTs) were generated through high-throughput 5' EST sequencing of cDNA clones. The ESTs were analyzed and assembled to generate 4,728 xylogenesis unigenes distributed in 2,100 contigs and 2,628 singletons. About 59.3 % of the ESTs were assigned with putative identifications whereas 40.7 % of the sequences showed no significant similarity to any sequences in GenBank. Interestingly, most genes involved in lignin biosynthesis and several other cell wall biosynthesis genes were identified in the kelampayan EST database. The identified genes in this study will be candidates for functional genomics and association genetic studies in kelampayan aiming at the production of high value forests.
    Matched MeSH terms: Genetic Association Studies
  6. Fulltext Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
    Drew AP, Zhu D, Kidambi A, Ly C, Tey S, Brewer MH, et al.
    Mol Genet Genomic Med, 2015 Mar;3(2):143-54.
    PMID: 25802885 DOI: 10.1002/mgg3.126
    Inherited peripheral neuropathies (IPNs) are a group of related diseases primarily affecting the peripheral motor and sensory neurons. They include the hereditary sensory neuropathies (HSN), hereditary motor neuropathies (HMN), and Charcot-Marie-Tooth disease (CMT). Using whole-exome sequencing (WES) to achieve a genetic diagnosis is particularly suited to IPNs, where over 80 genes are involved with weak genotype-phenotype correlations beyond the most common genes. We performed WES for 110 index patients with IPN where the genetic cause was undetermined after previous screening for mutations in common genes selected by phenotype and mode of inheritance. We identified 41 missense sequence variants in the known IPN genes in our cohort of 110 index patients. Nine variants (8%), identified in the genes MFN2, GJB1, BSCL2, and SETX, are previously reported mutations and considered to be pathogenic in these families. Twelve novel variants (11%) in the genes NEFL, TRPV4, KIF1B, BICD2, and SETX are implicated in the disease but require further evidence of pathogenicity. The remaining 20 variants were confirmed as polymorphisms (not causing the disease) and are detailed here to help interpret sequence variants identified in other family studies. Validation using segregation, normal controls, and bioinformatics tools was valuable as supporting evidence for sequence variants implicated in disease. In addition, we identified one SETX sequence variant (c.7640T>C), previously reported as a putative mutation, which we have confirmed as a nonpathogenic rare polymorphism. This study highlights the advantage of using WES for genetic diagnosis in highly heterogeneous diseases such as IPNs and has been particularly powerful in this cohort where genetic diagnosis could not be achieved due to phenotype and mode of inheritance not being previously obvious. However, first tier testing for common genes in clinically well-defined cases remains important and will account for most positive results.
    Matched MeSH terms: Genetic Association Studies
  7. Female genital mutilation. Council on Scientific Affairs, American Medical Association
    JAMA, 1995 Dec 6;274(21):1714-6.
    PMID: 7474278
    Female genital mutilation is the medically unnecessary modification of female genitalia. Female genital mutilation typically occurs at about 7 years of age, but mutilated women suffer severe medical complications throughout their adult lives. Female genital mutilation most frequently occurs in Africa, the Middle East, and Muslim parts of Indonesia and Malaysia, and it is generally part of a ceremonial induction into adult society. Recent political and economic problems in these regions, however, have increased the numbers of students and refugees to the United States. Consequently, US physicians are treating an increasing number of mutilated patients. The Council on Scientific Affairs recommends that US physicians join the World Health Organization, the World Medical Association, and other major health care organizations in opposing all forms of medically unnecessary surgical modification of the female genitalia.
    Matched MeSH terms: American Medical Association
  8. Fulltext An Improved Oil Palm Genome Assembly as a Valuable Resource for Crop Improvement and Comparative Genomics in the Arecoideae Subfamily
    Ong AL, Teh CK, Mayes S, Massawe F, Appleton DR, Kulaveerasingam H
    Plants (Basel), 2020 Nov 03;9(11).
    PMID: 33152992 DOI: 10.3390/plants9111476
    Oil palm (Elaeis guineensis Jacq.) is the most traded crop among the economically important palm species. Here, we report an extended version genome of E. guineensis that is 1.2 Gb in length, an improvement of the physical genome coverage to 79% from the previous 43%. The improvement was made by assigning an additional 1968 originally unplaced scaffolds that were available publicly into the physical genome. By integrating three ultra-dense linkage maps and using them to place genomic scaffolds, the 16 pseudomolecules were extended. As we show, the improved genome has enhanced the mapping resolution for genome-wide association studies (GWAS) and permitted further identification of candidate genes/protein-coding regions (CDSs) and any non-coding RNA that may be associated with them for further studies. We then employed the new physical map in a comparative genomics study against two other agriculturally and economically important palm species-date palm (Phoenix dactylifera L.) and coconut palm (Cocos nucifera L.)-confirming the high level of conserved synteny among these palm species. We also used the improved oil palm genome assembly version as a palm genome reference to extend the date palm physical map. The improved genome of oil palm will enable molecular breeding approaches to expedite crop improvement, especially in the largest subfamily of Arecoideae, which consists of 107 species belonging to Arecaceae.
    Matched MeSH terms: Genome-Wide Association Study
  9. Fulltext Noise exposure and hearing symptoms among laundry workers and mechanical cutters in a teaching hospital
    Asaritaminaziah binti Hisam, Siti Marwanis binti Anua
    Journal of Occupational Safety and Health, 2018;15(1):35-41.
    MyJurnal
    Workers who are exposed to high noise level were at risk of noise-induced hearing loss (NIHL). This crosssectional study was conducted to investigate the noise exposure level and hearing symptoms among workers exposed to noise in a teaching hospital. Utilising convenience sampling method, 20 laundry workers and 17 mechanical cutters were recruited into this study. Noise exposure levels were measured using noise dosimeter for 8 hours and information on hearing symptoms were gathered using a modified questionnaire adopted from the American Speech Language Hearing Association (ASHA). A significantly higher mean noise level (85±2 dB(A)) was reported among mechanical cutters as compared to laundry workers (80±3 dB(A)), p=0.001 although the former had shorter duration of noise exposure (20±3 hours per week vs. 28±12 hours per week). Fourteen (70%) laundry workers and six (35%) mechanical cutters had reported having hearing problem in noisy background. Higher proportion of laundry workers (n=8, 57%) had reported hearing symptoms compared to mechanical cutters (n=6, 43%) and longer work years was found to be significantly associated with hearing symptoms (p=0.049). There is a need of appropriate education and training on noise exposure, NIHL and hearing protection devices usage in the workplaces
    Matched MeSH terms: American Speech-Language-Hearing Association
  10. Fulltext Using Population and Comparative Genomics to Understand the Genetic Basis of Effector-Driven Fungal Pathogen Evolution
    Plissonneau C, Benevenuto J, Mohd-Assaad N, Fouché S, Hartmann FE, Croll D
    Front Plant Sci, 2017;8:119.
    PMID: 28217138 DOI: 10.3389/fpls.2017.00119
    Epidemics caused by fungal plant pathogens pose a major threat to agro-ecosystems and impact global food security. High-throughput sequencing enabled major advances in understanding how pathogens cause disease on crops. Hundreds of fungal genomes are now available and analyzing these genomes highlighted the key role of effector genes in disease. Effectors are small secreted proteins that enhance infection by manipulating host metabolism. Fungal genomes carry 100s of putative effector genes, but the lack of homology among effector genes, even for closely related species, challenges evolutionary and functional analyses. Furthermore, effector genes are often found in rapidly evolving chromosome compartments which are difficult to assemble. We review how population and comparative genomics toolsets can be combined to address these challenges. We highlight studies that associated genome-scale polymorphisms with pathogen lifestyles and adaptation to different environments. We show how genome-wide association studies can be used to identify effectors and other pathogenicity-related genes underlying rapid adaptation. We also discuss how the compartmentalization of fungal genomes into core and accessory regions shapes the evolution of effector genes. We argue that an understanding of genome evolution provides important insight into the trajectory of host-pathogen co-evolution.
    Matched MeSH terms: Genome-Wide Association Study
  11. Genomic diversity and genome-wide association analysis related to yield and fatty acid composition of wild American oil palm
    Ithnin M, Vu WT, Shin MG, Suryawanshi V, Sherbina K, Zolkafli SH, et al.
    Plant Sci, 2021 Mar;304:110731.
    PMID: 33568284 DOI: 10.1016/j.plantsci.2020.110731
    Existing Elaeis guineensis cultivars lack sufficient genetic diversity due to extensive breeding. Harnessing variation in wild crop relatives is necessary to expand the breadth of agronomically valuable traits. Using RAD sequencing, we examine the natural diversity of wild American oil palm populations (Elaeis oleifera), a sister species of the cultivated Elaeis guineensis oil palm. We genotyped 192 wild E. oleifera palms collected from seven Latin American countries along with four cultivated E. guineensis palms. Honduras, Costa Rica, Panama and Colombia palms are panmictic and genetically similar. Genomic patterns of diversity suggest that these populations likely originated from the Amazon Basin. Despite evidence of a genetic bottleneck and high inbreeding observed in these populations, there is considerable genetic and phenotypic variation for agronomically valuable traits. Genome-wide association revealed several candidate genes associated with fatty acid composition along with vegetative and yield-related traits. These observations provide valuable insight into the geographic distribution of diversity, phenotypic variation and its genetic architecture that will guide choices of wild genotypes for crop improvement.
    Matched MeSH terms: Genome-Wide Association Study
  12. Fulltext Knowledge of prescribing antimicrobial among dental practitioners in Klang Valley region
    Huda Kh. AbdulKader, Salmiah Mohd Ali, Mohamed Ibrahim Abu Hassan, Mohamed Mansor Manan
    Malaysian Dental Journal, 2010;31(1):35-43.
    MyJurnal
    There is a major concern about the increased use of antibiotics in dental practice and the emergence of resistant bacterial strains. In recent years, dentists have reported a shift from narrow-spectrum to broad-spectrum antibiotic prescriptions due to increasing antibiotic resistance. The aims of this study are to investigate the prescribing patterns of the therapeutic and prophylactic use for antibiotics in various dental situations by dental practitioners. The study also specifically investigates the prescribing habits of dental practitioners regarding certain cardiac conditions and related dental procedures in patients predisposed to infective endocarditis. This study utilized a questionnaire which was designed to investigate the antibiotic prescribing patterns by dental practitioners in the Klang Valley region. The returned questionnaires were analyzed using SPSS, to identify compliance to antibiotic guidelines by Malaysia National Clinical Guidelines (MNCG) (2003) and American Heart Association Guidelines (AHAG) (2008). 217 dentists responded to the questionnaire and the responses show that there is a wide variety of antibiotic prescriptions among dentists and there is also misuse of antibiotics in some clinical dental conditions. The results also show that there is a large variation in the antibiotic prescriptions patterns for prophylaxis against infective endocarditis. Furthermore, there is uncertainty as to which cardiac conditions required prophylaxis and for which particular dental procedures. This study concludes that there is a clear need for the development of prescribing guidelines, regular monitoring of antibiotic prescriptions by dental practitioners and educational initiatives to encourage the rational and appropriate use of the antibiotics.
    Matched MeSH terms: American Heart Association
  13. Dental students' compliance with antibiotic prescribing guidelines for dental infections in children
    Wong YC, Mohan M, Pau A
    J Indian Soc Pedod Prev Dent, 2016 Oct-Dec;34(4):348-53.
    PMID: 27681398 DOI: 10.4103/0970-4388.191415
    CONTEXT: To investigate the antibiotic prescribing training received by dental students, clinical experience in treating child patients, awareness of antibiotic prescribing guidelines, preparedness in antibiotic prescribing, and compliance with antibiotic prescribing guidelines for the management of dental infections in children.
    METHODS: This was a cross-sectional study involving final year dental students from Malaysian and Asian dental schools. A self-administered questionnaire consisting of five clinical case scenarios was e-mailed to all final year students at selected dental schools. Students' responses were compared for each clinical case scenario with the prescribing guidelines of the American Academy of Pediatric Dentistry and the American Dental Association. Compliance in each scenario was tested for association with their preparedness in antibiotic prescribing, previous training on antibiotic prescribing and awareness of antibiotic prescribing guidelines using Chi-square test. Data collected were analyzed using SPSS statistics version 20.
    RESULTS: A total of 108 completed responses were received. About 74 (69%) students were from Malaysian dental schools. The compliance rate with prescribing guidelines ranged from 15.7% to 43.5%. Those attending Malaysian dental schools (47.3%) and those who had treated child patient more often (46.3%) were more likely (P < 0.05) to be aware of the guidelines. Those who had received antibiotic prescribing training (21.3%) were more likely to think they were well prepared in antibiotic prescribing (P < 0.05).
    CONCLUSIONS: Final year dental students had low awareness and compliance with antibiotic prescribing guidelines. Further research is needed to investigate how compliance with the guidelines may be enhanced.
    Matched MeSH terms: American Dental Association
  14. Fulltext The molecular genetics and pathogenesis of cystic fibrosis lung disease
    Abdullah, S.
    Buletin Persatuan Genetik Malaysia, 2006;12(1):10-17.
    MyJurnal
    Cystic Fibrosis (CF) is a life-threatening inherited disease that particularly affects the airways and digestive systems, which is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CF is considered as the most common autosomal recessive disorder in the Caucasian population. However, the prevalence of this disease amongst Asians is considered to be low, hence the lack of awareness of this disease amongst geneticists and physicians in Malaysia. This review will describe the features of CF, its molecular genetics, the current classification of CFTR mutation classes, the genotype-phenotype correlations, the effects of modifier genes, and the discourse of the disease pathogenesis, in the hope of raising public awareness of the condition and ultimately to improve the clinical and social care of those affected by CF in Malaysia.
    Matched MeSH terms: Genetic Association Studies
  15. Fulltext Characterizing haploinsufficiency of SHELL gene to improve fruit form prediction in introgressive hybrids of oil palm
    Teh CK, Muaz SD, Tangaya P, Fong PY, Ong AL, Mayes S, et al.
    Sci Rep, 2017 06 08;7(1):3118.
    PMID: 28596562 DOI: 10.1038/s41598-017-03225-7
    The fundamental trait in selective breeding of oil palm (Eleais guineensis Jacq.) is the shell thickness surrounding the kernel. The monogenic shell thickness is inversely correlated to mesocarp thickness, where the crude palm oil accumulates. Commercial thin-shelled tenera derived from thick-shelled dura × shell-less pisifera generally contain 30% higher oil per bunch. Two mutations, sh MPOB (M1) and sh AVROS (M2) in the SHELL gene - a type II MADS-box transcription factor mainly present in AVROS and Nigerian origins, were reported to be responsible for different fruit forms. In this study, we have tested 1,339 samples maintained in Sime Darby Plantation using both mutations. Five genotype-phenotype discrepancies and eight controls were then re-tested with all five reported mutations (sh AVROS , sh MPOB , sh MPOB2 , sh MPOB3 and sh MPOB4 ) within the same gene. The integration of genotypic data, pedigree records and shell formation model further explained the haploinsufficiency effect on the SHELL gene with different number of functional copies. Some rare mutations were also identified, suggesting a need to further confirm the existence of cis-compound mutations in the gene. With this, the prediction accuracy of fruit forms can be further improved, especially in introgressive hybrids of oil palm. Understanding causative variant segregation is extremely important, even for monogenic traits such as shell thickness in oil palm.
    Matched MeSH terms: Genetic Association Studies
  16. Fulltext The association of insertions/deletions (INDELs) and variable number tandem repeats (VNTRs) with obesity and its related traits and complications
    Say YH
    J Physiol Anthropol, 2017 Jun 14;36(1):25.
    PMID: 28615046 DOI: 10.1186/s40101-017-0142-x
    BACKGROUND: Despite the fact that insertions/deletions (INDELs) are the second most common type of genetic variations and variable number tandem repeats (VNTRs) represent a large portion of the human genome, they have received far less attention than single nucleotide polymorphisms (SNPs) and larger forms of structural variation like copy number variations (CNVs), especially in genome-wide association studies (GWAS) of complex diseases like polygenic obesity. This is exemplified by the vast amount of review papers on the role of SNPs and CNVs in obesity, its related traits (like anthropometric measurements, biochemical variables, and eating behavior), and its related complications (like hypertension, hypertriglyceridemia, hypercholesterolemia, and insulin resistance-collectively known as metabolic syndrome). Hence, this paper reviews the types of INDELs and VNTRs that have been studied for association with obesity and its related traits and complications. These INDELs and VNTRs could be found in the obesity loci or genes from the earliest GWAS and candidate gene association studies, like FTO, genes in the leptin-proopiomelanocortin pathway, and UCP2/3. Given the important role of the brain serotonergic and dopaminergic reward system in obesity susceptibility, the association of INDELs and VNTRs in these neurotransmitters' metabolism and transport genes with obesity is also reviewed. Next, the role of INS VNTR in obesity and its related traits is questionable, since recent large-scale studies failed to replicate the earlier positive associations. As obesity results in chronic low-grade inflammation of the adipose tissue, the proinflammatory cytokine gene IL1RA and anti-inflammatory cytokine gene IL4 have VNTRs that are implicated in obesity. A systemic proinflammatory state in combination with activation of the renin-angiotensin system and decreased nitric oxide bioavailability as found in obesity leads to endothelial dysfunction. This explains why VNTR and INDEL in eNOS and ACE, respectively, could be predisposing factors of obesity. Finally, two novel genes, DOCK5 and PER3, which are involved in the regulation of the Akt/MAPK pathway and circadian rhythm, respectively, have VNTRs and INDEL that might be associated with obesity.

    SHORT CONCLUSION: In conclusion, INDELs and VNTRs could have important functional consequences in the pathophysiology of obesity, and research on them should be continued to facilitate obesity prediction, prevention, and treatment.

    Matched MeSH terms: Genome-Wide Association Study
  17. Microbial contamination level of water supply system at the faculty of dentistry, USIM, Malaysia
    Normaliza Ab. Malik, Rohazila Mohd Hanafiah, Wan Mohamad Nasi Wan Othman
    Sains Malaysiana, 2013;42:53-58.
    This study was to evaluate the microbial contamination level in direct water supply at the Polyclinic, Faculty of Dentistry, USIM, Malaysia. Water samples were collected randomly from water supplied via the cup filler outlet of 20 dental units and 20 side water taps at Level 16 and 17 of Polyclinic, Faculty of Dentistry, USIM. All the samples were placed and spread evenly on the surface of prepared agar media (the nutrient agar) using the spread technique. Each sample consists of 0.5 mL water. The microbial count was done using a magnifying glass and the total number of bacteria concentration was reported as colony forming unit in 1 mL of water (cfu/mL). In this study water from an aquarium was used as positive control with 220 cfu/mL, while the distilled water taken from the CSSD was used as negative control with no colony of microorganism. The study demonstrated that there were low contamination before the treatment that was beginning of the session in water supplied via the cup filler outlet and side water tap from the sink with 2 cfu/mL. However, two cup fillers water and one side water taps from Polyclinic level 17 showed a slightly higher bacterial colonies with 4 cfu/mL and 6 cfu/mL of microbes. At the end of the session, result showed that higher bacterial count from Polyclinic level 17 than Polyclinic level 16 with the highest reading of 40 cfu/mL. The findings were considered low and the water was safe for the dental procedures. The quality of water supplied at the Faculty of Dentistry, USIM was within the limits recommended by the American Dental Association, i.e. bacterial loads of not more than 200 cfu/mL for dental procedures.
    Matched MeSH terms: American Dental Association
  18. A comparison of different disinfectants on the microbiological quality of water from the Dental Unit Waterlines of a Military Hospital
    Mei Siang Ma, Zalini Yunus, Zukri Ahmad, Farizah Abdul Fatah
    Sains Malaysiana, 2015;44:187-192.
    Water from the dental unit waterlines (DUWLs) is known to contaminate with microbial from the biofilm that formed in the tubing system. The water quality from DUWLs is important to patients and dental health care professionals as they could be infected either directly from the contaminated water or aerosol that is generated during dental procedures. Suppliers claimed that dental units supplied to the hospital can only use a specific disinfectant which is uneconomic compared with the others. The aims of this study were to evaluate and compare the efficacy of different disinfectant on the water quality of DUWLs. Four disinfectants (Calbenium, A-dec ICX tablet, Dentel 5, Metassys) and distil water were evaluated. 350 mL water sample was collected separately, from the outlet of high-speed handpiece, scaler, 3-ways syringe and cup filler into a sterile thiosulfate bag on the 1st, 2nd, 4th, 8th, 12th and 24th weeks of the study. The samples were tested on the following day for total viable count (TVC). There is significant difference in the efficacies of the different disinfectants. Only one disinfectant consistently produces water quality within the recommended level of American Dental Association (ADA). Within the limitation of this study, it was found that there is alternative disinfectant that can reduce the TVC to the level recommended by ADA. However, the water qualities produced with these disinfectants were not consistent although they did not cause any technical problem to the dental units during the period of study.
    Matched MeSH terms: American Dental Association
  19. Genetic polymorphisms of HbE/beta thalassemia related to clinical presentation: implications for clinical diversity
    Azman NF, Abdullah WZ, Hanafi S, Diana R, Bahar R, Johan MF, et al.
    Ann Hematol, 2020 Apr;99(4):729-735.
    PMID: 32078010 DOI: 10.1007/s00277-020-03927-5
    HbE/Beta thalassemia (HbE/β-thalassemia) is one of the common genetic disorders in South East Asia. It is heterogeneous in its clinical presentation and molecular defects. There are genetic modifiers which have been reported to influence the disease severity of this disorder. The aim of this study was to determine the genetic polymorphisms which were responsible for the disease clinical diversity. A case-control study was conducted among Malay transfusion-dependent HbE/β-thalassemia patients. Patients who were confirmed HbE/β-thalassemia were recruited and genotyping study was performed on these subjects. Ninety-eight patients were selected and divided into moderate and severe groups based on clinical parameters using Sripichai scoring system (based on hemoglobin level, spleen size, growth development, the age of first transfusion and age of disease presentation). Forty-three (44.9%) and 55 (56.1%) patients were found to have moderate and severe clinical presentation, respectively. Genotyping analysis was performed using Affymetrix 6.0 microarray platform. The SNPs were filtered using PLINK and Manhattan plot by R software. From the GWAS results, 20 most significant SNPs were selected based on disease severity when compared between moderate and severe groups. The significant SNPs found in this study were mostly related to thalassemia complications such as rs7372408, associated with KCNMB2-AS1 and SNPs associated with disease severity. These findings could be used as genetic predictors in managing patients with HbE/β-thalassemia and served as platform for future study.
    Matched MeSH terms: Genome-Wide Association Study
  20. Fulltext Hypertension genes among orang asli in peninsular Malaysia and ethno-medicinal plant
    Sholehah, A. R., Ramle, A., Mohd Tajuddin, A., Wan Rohani, W. T., Jamilah, M. S., Razifah, M.
    Asian Journal of Medicine and Biomedicine, 2018;2(1):0-0.
    MyJurnal
    The prevalence and incidence rate of hypertension among Orang Asli had been increasing due to
    modernization and assimilation of outside practices such as intake of high cholesterol food, alcohol, and
    smoking. Orang Asli utilize their herbs or plants to treat some illness due to the factor of logistics and the
    knowledge on these nature resources since decades ago that is carried out from their ancestors. In this review
    paper, hypertension genes of Orang Asli in Peninsular Malaysia and the utilization of ethno-medicinal plants
    in reducing the clinical manifestation in hypertension were deliberated. There are quite a number of related
    hypertensive genes particularly in renin-angiotensin-aldosterone system (RAAS) playing a pivotal role in
    pathogenesis of hypertension. A genome-wide association studies showed potential candidate genes in
    hypertension among Orang Asli in Peninsular Malaysia. However there is yet molecular study on these genes
    among Orang Asli with their unique genetic profile. Noteworthy information on mechanism of ethnomedicine in treating hypertension are scarce, even the efficacy of modern medicine in treating hypertension
    on Orang Asli are rare. Therefore, study on efficacy of ethno-medicine plant by Orang Asli and the
    regulation effect on hypertension genes are needed to be further explored and elucidated.
    Matched MeSH terms: Genome-Wide Association Study
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