Displaying publications 181 - 200 of 433 in total

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  1. Mohd Ali MR, Lih Huey L, Foo PC, Goay YX, Ismail AS, Mustaffa KMF, et al.
    Biomed Res Int, 2019;2019:9451791.
    PMID: 31355287 DOI: 10.1155/2019/9451791
    Melioidosis and leptospirosis, caused by two different bacteria, Burkholderia pseudomallei and Leptospira spp., are potentially fatal infections that share a very similar spectrum of clinical features and cause significant mortality and morbidity in humans and livestock. Early detection is important for better clinical consequences. To our knowledge, there is no diagnostic tool available to simultaneously detect and differentiate melioidosis and leptospirosis in humans and animals. In this study, we described a duplex TaqMan probe-based qPCR for the detection of B. pseudomallei and Leptospira spp. DNA. The performance of the assay was evaluated on 20 B. pseudomallei isolates, 23 Leptospira strains, and 39 other microorganisms, as well as two sets of serially diluted reference strains. The duplex qPCR assay was able to detect 0.02 pg (~ 4 copies) Leptospira spp. DNA and 0.2 pg (~ 25.6 copies) B. pseudomallei DNA. No undesired amplification was observed in other microorganisms. In conclusion, the duplex qPCR assay was sensitive and specific for the detection of B. pseudomallei & Leptospira spp. DNA and is suitable for further analytical and clinical evaluation.
  2. Mohammad MK, Mohamed MI, Zakaria AM, Abdul Razak HR, Saad WM
    Biomed Res Int, 2014;2014:512834.
    PMID: 24877107 DOI: 10.1155/2014/512834
    Watermelon is a natural product that contains high level of antioxidants and may prevent oxidative damage in tissues due to free radical generation following an exposure to ionizing radiation. The present study aimed to investigate the radioprotective effects of watermelon (Citrullus lanatus (Thunb.) Matsum. and Nakai) juice against oxidative damage induced by low dose X-ray exposure in mice. Twelve adult male ICR mice were randomly divided into two groups consisting of radiation (Rx) and supplementation (Tx) groups. Rx received filtered tap water, while Tx was supplemented with 50% (v/v) watermelon juice for 28 days ad libitum prior to total body irradiation by 100 μGy X-ray on day 29. Brain, lung, and liver tissues were assessed for the levels of malondialdehyde (MDA), apurinic/apyrimidinic (AP) sites, glutathione (GSH), and superoxide dismutase (SOD) inhibition activities. Results showed significant reduction of MDA levels and AP sites formation of Tx compared to Rx (P < 0.05). Mice supplemented with 50% watermelon juice restore the intracellular antioxidant activities by significantly increased SOD inhibition activities and GSH levels compared to Rx. These findings may postulate that supplementation of 50% watermelon (Citrullus lanatus (Thunb.) Matsum. and Nakai) juice could modulate oxidative damage induced by low dose X-ray exposure.
  3. Mohammad AH, Al-Sadat N, Siew Yim L, Chinna K
    Biomed Res Int, 2014;2014:302097.
    PMID: 25276774 DOI: 10.1155/2014/302097
    This study aims to test the translated Hausa version of the stroke impact scale SIS (3.0) and further evaluate its psychometric properties. The SIS 3.0 was translated from English into Hausa and was tested for its reliability and validity on a stratified random sample adult stroke survivors attending rehabilitation services at stroke referral hospitals in Kano, Nigeria. Psychometric analysis of the Hausa-SIS 3.0 involved face, content, criterion, and construct validity tests as well as internal and test-retest reliability. In reliability analyses, the Cronbach's alpha values for the items in Strength, Hand function, Mobility, ADL/IADL, Memory and thinking, Communication, Emotion, and Social participation domains were 0.80, 0.92, 0.90, 0.78, 0.84, 0.89, 0.58, and 0.74, respectively. There are 8 domains in stroke impact scale 3.0 in confirmatory factory analysis; some of the items in the Hausa-SIS questionnaire have to be dropped due to lack of discriminate validity. In the final analysis, a parsimonious model was obtained with two items per construct for the 8 constructs (Chi-square/df < 3, TLI and CFI > 0.9, and RMSEA < 0.08). Cross validation with 1000 bootstrap samples gave a satisfactory result (P = 0.011). In conclusion, the shorter 16-item Hausa-SIS seems to measure adequately the QOL outcomes in the 8 domains.
  4. Mohamed MI, Mohammad MK, Abdul Razak HR, Abdul Razak K, Saad WM
    Biomed Res Int, 2015;2015:183525.
    PMID: 26075217 DOI: 10.1155/2015/183525
    Emerging syntheses and findings of new metallic nanoparticles (MNPs) have become an important aspect in various fields including diagnostic imaging. To date, iodine has been utilized as a radiographic contrast medium. However, the raise concern of iodine threats on iodine-intolerance patient has led to search of new contrast media with lower toxic level. In this animal modeling study, 14 nm iron oxide nanoparticles (IONPs) with silane-polyethylene glycol (SiPEG) and perchloric acid have been assessed for toxicity level as compared to conventional iodine. The nanotoxicity of IONPs was evaluated in liver biochemistry, reactive oxygen species production (ROS), lipid peroxidation mechanism, and ultrastructural evaluation using transmission electron microscope (TEM). The hematological analysis and liver function test (LFT) revealed that most of the liver enzymes were significantly higher in iodine-administered group as compared to those in normal and IONPs groups (P < 0.05). ROS production assay and lipid peroxidation indicator, malondialdehyde (MDA), also showed significant reductions in comparison with iodine group (P < 0.05). TEM evaluation yielded the aberration of nucleus structure of iodine-administered group as compared to those in control and IONPs groups. This study has demonstrated the less toxic properties of IONPs and it may postulate that IONPs are safe to be applied as radiographic contrast medium.
  5. Mohamed Amin Z, Koh SP, Yeap SK, Abdul Hamid NS, Tan CP, Long K
    Biomed Res Int, 2015;2015:687694.
    PMID: 26436094 DOI: 10.1155/2015/687694
    Maltodextrins that contain both simple sugars and polymers of saccharides have been widely used as ingredients in food products and pharmaceutical delivery systems. To date, no much work has been reported on the applications of maltodextrin from broken rice (RB) sources. Therefore, the objective of this work was to investigate the in vitro wound healing efficacy of RB maltodextrin at different conditions. Wounds treated with lower dextrose equivalent (DE) range (DE 10-14) of maltodextrins at a concentration of 10% obtained from RB were found to be able to heal the wounds significantly faster (p < 0.01) than maltodextrin with higher DE ranges (DE 15-19 and DE 20-24) and concentrations of 5% and 20%. The findings from both BrdU and MTT assay further confirmed its wound healing properties as the NIH 3T3 fibroblast wounded cells were able to proliferate without causing cytotoxic effect when wounded cell was treated with maltodextrin. All these findings indicated that the RB maltodextrin could perform better than the commercial maltodextrin at the same DE range. This study showed that RB maltodextrins had better functionality properties than other maltodextrin sources and played a beneficial role in wound healing application.
  6. Mohamad Yadzir ZH, Misnan R, Bakhtiar F, Abdullah N, Murad S
    Biomed Res Int, 2015;2015:254152.
    PMID: 26413512 DOI: 10.1155/2015/254152
    To identify the major allergenic proteins of clam (Paphia textile) and to investigate the effect of different cooking methods on the allergenicity of these identified proteins.
  7. Mohamad Aris SN, Thean Chor AL, Mohamad Ali MS, Basri M, Salleh AB, Raja Abd Rahman RN
    Biomed Res Int, 2014;2014:904381.
    PMID: 24516857 DOI: 10.1155/2014/904381
    Three-dimensional structure of thermostable lipase is much sought after nowadays as it is important for industrial application mainly found in the food, detergent, and pharmaceutical sectors. Crystallization utilizing the counter diffusion method in space was performed with the aim to obtain high resolution diffracting crystals with better internal order to improve the accuracy of the structure. Thermostable T1 lipase enzyme has been crystallized in laboratory on earth and also under microgravity condition aboard Progress spacecraft to the ISS in collaboration with JAXA (Japanese Aerospace Exploration Agency). This study is conducted with the aims of improving crystal packing and structure resolution. The diffraction data set for ground grown crystal was collected to 1.3 Å resolution and belonged to monoclinic C2 space group with unit cell parameters a = 117.40 Å, b = 80.95 Å, and c = 99.81 Å, whereas the diffraction data set for space grown crystal was collected to 1.1 Å resolution and belonged to monoclinic C2 space group with unit cell parameters a = 117.31 Å, b = 80.85 Å, and c = 99.81 Å. The major difference between the two crystal growth systems is the lack of convection and sedimentation in microgravity environment resulted in the growth of much higher quality crystals of T1 lipase.
  8. Mohamad Ali MS, Mohd Fuzi SF, Ganasen M, Abdul Rahman RN, Basri M, Salleh AB
    Biomed Res Int, 2013;2013:925373.
    PMID: 23738333 DOI: 10.1155/2013/925373
    The psychrophilic enzyme is an interesting subject to study due to its special ability to adapt to extreme temperatures, unlike typical enzymes. Utilizing computer-aided software, the predicted structure and function of the enzyme lipase AMS8 (LipAMS8) (isolated from the psychrophilic Pseudomonas sp., obtained from the Antarctic soil) are studied. The enzyme shows significant sequence similarities with lipases from Pseudomonas sp. MIS38 and Serratia marcescens. These similarities aid in the prediction of the 3D molecular structure of the enzyme. In this study, 12 ns MD simulation is performed at different temperatures for structural flexibility and stability analysis. The results show that the enzyme is most stable at 0°C and 5°C. In terms of stability and flexibility, the catalytic domain (N-terminus) maintained its stability more than the noncatalytic domain (C-terminus), but the non-catalytic domain showed higher flexibility than the catalytic domain. The analysis of the structure and function of LipAMS8 provides new insights into the structural adaptation of this protein at low temperatures. The information obtained could be a useful tool for low temperature industrial applications and molecular engineering purposes, in the near future.
  9. Moghadamtousi SZ, Kadir HA, Hassandarvish P, Tajik H, Abubakar S, Zandi K
    Biomed Res Int, 2014;2014:186864.
    PMID: 24877064 DOI: 10.1155/2014/186864
    Curcuma longa L. (Zingiberaceae family) and its polyphenolic compound curcumin have been subjected to a variety of antimicrobial investigations due to extensive traditional uses and low side effects. Antimicrobial activities for curcumin and rhizome extract of C. longa against different bacteria, viruses, fungi, and parasites have been reported. The promising results for antimicrobial activity of curcumin made it a good candidate to enhance the inhibitory effect of existing antimicrobial agents through synergism. Indeed, different investigations have been done to increase the antimicrobial activity of curcumin, including synthesis of different chemical derivatives to increase its water solubility as well ass cell up take of curcumin. This review aims to summarize previous antimicrobial studies of curcumin towards its application in the future studies as a natural antimicrobial agent.
  10. Mogana R, Adhikari A, Debnath S, Hazra S, Hazra B, Teng-Jin K, et al.
    Biomed Res Int, 2014;2014:903529.
    PMID: 24949478 DOI: 10.1155/2014/903529
    In continuation of our natural and medicinal research programme on tropical rainforest plants, a bioassay guided fractionation of ethanolic extract of leaves of Canarium patentinervium Miq. (Burseraceae Kunth.) led to the isolation of scopoletin (1), scoparone (2), (+)-catechin (3), vomifoliol (4), lioxin (5), and syringic acid (6). All the compounds exhibited antiacetylcholinesterase activity with syringic acid, a phenolic acid exhibiting good AChE inhibition (IC50 29.53 ± 0.19 μ g/mL). All compounds displayed moderate antileishmanial activity with scopoletin having the highest antileishmanial activity (IC50 163.30 ± 0.32 μ g/mL). Given the aforementioned evidence, it is tempting to speculate that Canarium patentinervium Miq. represents an exciting scaffold from which to develop leads for treatment of neurodegenerative and parasitic diseases.
  11. Mehrbod P, Omar AR, Hair-Bejo M, Haghani A, Ideris A
    Biomed Res Int, 2014;2014:872370.
    PMID: 25478576 DOI: 10.1155/2014/872370
    The influenza virus (IV) is known to be a resistant virus with frequent mutations, causing severe respiratory diseases in the upper respiratory system. Public health concerns about clinical efficacy of all conventional drugs are ambiguous; therefore, finding additional therapeutic agents is critical to prevent and control influenza outbreaks. Influenza is associated with the induction of proinflammatory cytokines. Scientists have reported that anti-inflammatory drugs, with pleiotropic effects, reduce the burden of severe influenza diseases. Therefore, statins, which are cardioprotective drugs with anti-inflammatory and immunomodulatory effects, may help patients suffering from influenza virus (IV). This review delineates the potential use of statins as an alternative therapy in treating influenza related illness.
  12. Medipally SR, Yusoff FM, Banerjee S, Shariff M
    Biomed Res Int, 2015;2015:519513.
    PMID: 25874216 DOI: 10.1155/2015/519513
    The world energy crisis and increased greenhouse gas emissions have driven the search for alternative and environmentally friendly renewable energy sources. According to life cycle analysis, microalgae biofuel is identified as one of the major renewable energy sources for sustainable development, with potential to replace the fossil-based fuels. Microalgae biofuel was devoid of the major drawbacks associated with oil crops and lignocelluloses-based biofuels. Algae-based biofuels are technically and economically viable and cost competitive, require no additional lands, require minimal water use, and mitigate atmospheric CO2. However, commercial production of microalgae biodiesel is still not feasible due to the low biomass concentration and costly downstream processes. The viability of microalgae biodiesel production can be achieved by designing advanced photobioreactors, developing low cost technologies for biomass harvesting, drying, and oil extraction. Commercial production can also be accomplished by improving the genetic engineering strategies to control environmental stress conditions and by engineering metabolic pathways for high lipid production. In addition, new emerging technologies such as algal-bacterial interactions for enhancement of microalgae growth and lipid production are also explored. This review focuses mainly on the problems encountered in the commercial production of microalgae biofuels and the possible techniques to overcome these difficulties.
  13. Md Sidek NL, Halim M, Tan JS, Abbasiliasi S, Mustafa S, Ariff AB
    Biomed Res Int, 2018;2018:5973484.
    PMID: 30363649 DOI: 10.1155/2018/5973484
    Nowadays, bacteriocin industry has substantially grown replacing the role of chemical preservatives in enhancing shelf-life and safety of food. The progress in bacteriocin study has been supported by the emerging of consumer demand on the applications of natural food preservatives. Since food is a complex ecosystem, the characteristics of bacteriocin determine the effectiveness of their incorporation into the food products. Among four commercial media (M17 broth, MRS broth, tryptic soy broth, and nutrient broth) tested, the highest growth of Pediococcus acidilactici kp10 and bacteriocin-like-inhibitory substance (BLIS) production were obtained in the cultivation with M17. BLIS production was found to be a growth associated process where the production was increased concomitantly with the growth of producing strain, P. acidilactici kp10. The antimicrobial property of BLIS against three indicator microorganisms (Listeria monocytogenes, Escherichia coli, and Staphylococcus aureus) remained stable upon heating at 100°C but not detectable at 121°C. The BLIS activity was also observed to be stable and active at a wide pH range (pH 2 to pH 7). The BLIS activity remained constant at -20°C and -80°C for 1 month of storage. However, the activity dropped after 3 and 6 months of storage at 4°C, -20°C, and -80°C with more than 80% reduction. The ability of bacteriocin from P. acidilactici kp10 to inhibit food-borne pathogens while remaining stable and active at extreme pH and temperature is of potential interest for future applications in food preservatives.
  14. Md Nesran ZN, Shafie NH, Ishak AH, Mohd Esa N, Ismail A, Md Tohid SF
    Biomed Res Int, 2019;2019:3480569.
    PMID: 31930117 DOI: 10.1155/2019/3480569
    Epigallocatechin-3-gallate (EGCG) is the most abundant bioactive polyphenolic compound among the green tea constituents and has been identified as a potential anticancer agent in colorectal cancer (CRC) studies. This study was aimed to determine the mechanism of actions of EGCG when targeting the endoplasmic reticulum (ER) stress pathway in CRC. The MTT (3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl tetrazolium bromide) assay was performed on HT-29 cell line and normal cell line (3T3) to determine the EGCG toxicity. Next, western blot was done to observe the expression of the related proteins for the ER stress pathway. The Caspase 3/7 assay was performed to determine the apoptosis induced by EGCG. The results demonstrated that EGCG treatment was toxic to the HT-29 cell line. EGCG induced ER stress in HT-29 by upregulating immunoglobulin-binding (BiP), PKR-like endoplasmic reticulum kinase (PERK), phosphorylation of eukaryotic initiation factor 2 alpha subunit (eIF2α), activating transcription 4 (ATF4), and inositol-requiring kinase 1 alpha (IRE1α). Apoptosis was induced in HT-29 cells after the EGCG treatment, as shown by the Caspase 3/7 activity. This study indicates that green tea EGCG has the potential to inhibit colorectal cancer cells through the induction of ER stress.
  15. Maurice Bilung L, Sin Chai L, Tahar AS, Ted CK, Apun K
    Biomed Res Int, 2018;2018:3067494.
    PMID: 30065935 DOI: 10.1155/2018/3067494
    This study aimed to identify Listeria spp. and L. monocytogenes, characterize the isolates, and determine the antibiotic resistance profiles of the isolates Listeria spp. and L. monocytogenes in fresh produce, fertilizer, and environmental samples from vegetable farms (organic and conventional farms). A total of 386 samples (vegetables, soil, water, and fertilizer with manure) were examined. The identification of bacterial isolates was performed using PCR and characterized using ERIC-PCR and BOX-PCR. The discriminating power of the typing method was analyzed using Simpson's Index of Diversity. Thirty-four (n=34) Listeria isolates were subjected to antimicrobial susceptibility test using the disc-diffusion technique. The PCR analysis revealed that Listeria spp. were present in 7.51% (29/386) of all the samples (vegetable, soil, fertilizer, and water). None of the samples examined were positive for the presence of L. monocytogenes. Percentages of 100% (15/15) and 73.30% (11/15) of the Listeria spp. isolated from vegetables, fertilizer, and soil from organic farm B had indistinguishable DNA fingerprints by using ERIC-PCR and BOX-PCR, respectively. Listeria spp. isolated from 86 samples of vegetable, fertilizer, and environment of organic farm A and conventional farm C had distinct DNA fingerprints. Simpson's Index of Diversity, D, of ERIC-PCR and BOX-PCR is 0.604 and 0.888, respectively. Antibiotic susceptibility test revealed that most of the Listeria spp. in this study were found to be resistant to ampicillin, rifampin, penicillin G, tetracycline, clindamycin, cephalothin, and ceftriaxone. The isolates had MAR index ranging between 0.31 and 0.85. In conclusion, hygienic measures at farm level are crucial to the reduction of Listeria transmission along the food chain.
  16. Masstor NH, Samat A, Nor SM, Md-Zain BM
    Biomed Res Int, 2014;2014:213896.
    PMID: 25013766 DOI: 10.1155/2014/213896
    Chiloscyllium, commonly called bamboo shark, can be found inhabiting the waters of the Indo-West Pacific around East Asian countries such as Malaysia, Myanmar, Thailand, Singapore, and Indonesia. The International Union for Conservation of Nature (IUCN) Red List has categorized them as nearly threatened sharks out of their declining population status due to overexploitation. A molecular study was carried out to portray the systematic relationships within Chiloscyllium species using 12S rRNA and cytochrome b gene sequences. Maximum parsimony and Bayesian were used to reconstruct their phylogeny trees. A total of 381 bp sequences' lengths were successfully aligned in the 12S rRNA region, with 41 bp sites being parsimony-informative. In the cytochrome b region, a total of 1120 bp sites were aligned, with 352 parsimony-informative characters. All analyses yield phylogeny trees on which C. indicum has close relationships with C. plagiosum. C. punctatum is sister taxon to both C. indicum and C. plagiosum while C. griseum and C. hasseltii formed their own clade as sister taxa. These Chiloscyllium classifications can be supported by some morphological characters (lateral dermal ridges on the body, coloring patterns, and appearance of hypobranchials and basibranchial plate) that can clearly be used to differentiate each species.
  17. Masrani AS, Nik Husain NR, Musa KI, Yasin AS
    Biomed Res Int, 2021;2021:3540964.
    PMID: 34734083 DOI: 10.1155/2021/3540964
    Introduction: Dengue, a vector-borne viral illness, shows worldwide widening spatial distribution beyond its point of origination, namely, the tropical belt. The persistent hyperendemicity in Malaysia has resulted in the formation of the dengue early warning system. However, weather variables are yet to be fully utilized for prevention and control activities, particularly in east-coast peninsular Malaysia where limited studies have been conducted. We aim to provide a time-based estimate of possible dengue incidence increase following weather-related changes, thereby highlighting potential dengue outbreaks.

    Method: All serologically confirmed dengue patients in Kelantan, a northeastern state in Malaysia, registered in the eDengue system with an onset of disease from January 2016 to December 2018, were included in the study with the exclusion of duplicate entry. Using a generalized additive model, climate data collected from the Kota Bharu weather station (latitude 6°10'N, longitude 102°18'E) was analysed with dengue data.

    Result: A cyclical pattern of dengue cases was observed with annual peaks coinciding with the intermonsoon period. Our analysis reveals that maximum temperature, mean temperature, rainfall, and wind speed have a significant nonlinear effect on dengue cases in Kelantan. Our model can explain approximately 8.2% of dengue incidence variabilities.

    Conclusion: Weather variables affect nearly 10% of the dengue incidences in Northeast Malaysia, thereby making it a relevant variable to be included in a dengue early warning system. Interventions such as vector control activities targeting the intermonsoon period are recommended.

  18. Marvibaigi M, Supriyanto E, Amini N, Abdul Majid FA, Jaganathan SK
    Biomed Res Int, 2014;2014:785479.
    PMID: 25136622 DOI: 10.1155/2014/785479
    Breast cancer is among the most frequent types of cancer in women worldwide. Current conventional treatment options are accompanied by side effects. Mistletoe is amongst the important herbal medicines traditionally used as complementary remedies. An increasing number of studies have reported anticancer activity of mistletoe extracts on breast cancer cells and animal models. Some recent evidence suggests that cytotoxic activity of mistletoe may be mediated through different mechanisms. These findings provide a good base for clinical trials. Various studies on mistletoe therapy for breast cancer patients revealed similar findings concerning possible benefits on survival time, health-related quality of life (HRQoL), remission rate, and alleviating adverse reactions to conventional therapy. This review provides an overview of the recent findings on preclinical experiments and clinical trials of mistletoe for its cytotoxic and antitumor activity and its effect on HRQoL in breast cancer patients. Moreover, studies investigating molecular and cellular mechanisms underlying antitumor activity of mistletoe are discussed in this paper. The analyzed trials provided evidence that there might be a combination of pharmacological and motivational aspects mediated by the mistletoe extract application which may contribute to the clinical benefit and positive outcome such as improved HRQoL and self-regulation in breast cancer patients.
  19. Marmouzi I, Ezzat SM, Salama MM, Merghany RM, Attar AM, El-Desoky AM, et al.
    Biomed Res Int, 2019;2019:4568039.
    PMID: 31781615 DOI: 10.1155/2019/4568039
    Chemical structures derived from marine foods are highly diverse and pharmacologically promising. In particular, chitooligosaccharides (COS) present a safe pharmacokinetic profile and a great source of new bioactive polymers. This review describes the antioxidant, anti-inflammatory, and antidiabetic properties of COS from recent publications. Thus, COS constitute an effective agent against oxidative stress, cellular damage, and inflammatory pathogenesis. The mechanisms of action and targeted therapeutic pathways of COS are summarized and discussed. COS may act as antioxidants via their radical scavenging activity and by decreasing oxidative stress markers. The mechanism of COS antidiabetic effect is characterized by an acceleration of pancreatic islets proliferation, an increase in insulin secretion and sensitivity, a reduction of postprandial glucose, and an improvement of glucose uptake. COS upregulate the GLUT2 and inhibit digestive enzyme and glucose transporters. Furthermore, they resulted in reduction of gluconeogenesis and promotion of glucose conversion. On the other hand, the COS decrease inflammatory mediators, suppress the activation of NF-κB, increase the phosphorylation of kinase, and stimulate the proliferation of lymphocytes. Overall, this review brings evidence from experimental data about protective effect of COS.
  20. Maran S, Faten SA, Lim SE, Lai KS, Ibrahim WPW, Ankathil R, et al.
    Biomed Res Int, 2020;2020:6945730.
    PMID: 33062692 DOI: 10.1155/2020/6945730
    Background: The 22q11.2 deletion syndrome (22q11.2DS) is the most common form of deletion disorder in humans. Low copy repeats flanking the 22q11.2 region confers a substrate for nonallelic homologous recombination (NAHR) events leading to rearrangements which have been reported to be associated with highly variable and expansive phenotypes. The 22q11.2DS is reported as the most common genetic cause of congenital heart defects (CHDs).

    Methods: A total of 42 patients with congenital heart defects, as confirmed by echocardiography, were recruited. Genetic molecular analysis using a fluorescence in situ hybridization (FISH) technique was conducted as part of routine 22q11.2DS screening, followed by multiplex ligation-dependent probe amplification (MLPA), which serves as a confirmatory test.

    Results: Two of the 42 CHD cases (4.76%) indicated the presence of 22q11.2DS, and interestingly, both cases have conotruncal heart defects. In terms of concordance of techniques used, MLPA is superior since it can detect deletions within the 22q11.2 locus and outside of the typically deleted region (TDR) as well as duplications.

    Conclusion: The incidence of 22q11.2DS among patients with CHD in the east coast of Malaysia is 0.047. MLPA is a scalable and affordable alternative molecular diagnostic method in the screening of 22q11.2DS and can be routinely applied for the diagnosis of deletion syndromes.

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