Displaying publications 1 - 20 of 144 in total

  1. Karanth L, Kanagasabai S, Abas AB
    Cochrane Database Syst Rev, 2017 08 04;8:CD011059.
    PMID: 28776324 DOI: 10.1002/14651858.CD011059.pub3
    BACKGROUND: Bleeding disorders are uncommon but may pose significant bleeding complications during pregnancy, labour and following delivery for both the woman and the foetus. While many bleeding disorders in women tend to improve in pregnancy, thus decreasing the haemorrhagic risk to the mother at the time of delivery, some do not correct or return quite quickly to their pre-pregnancy levels in the postpartum period. Therefore, specific measures to prevent maternal bleeding and foetal complications during childbirth, are required. The safest method of delivery to reduce morbidity and mortality in these women is controversial. This is an update of a previously published review.

    OBJECTIVES: To assess the optimal mode of delivery in women with, or carriers of, bleeding disorders.

    SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Coagulopathies Trials Register, compiled from electronic database searches and handsearching of journals and conference abstract books. We also searched the Cochrane Pregnancy and Childbirth Group's Trials Register as well as trials registries and the reference lists of relevant articles and reviews.Date of last search of the Group's Trials Registers: 16 February 2017.

    SELECTION CRITERIA: Randomised controlled trials and all types of controlled clinical trials investigating the optimal mode of delivery in women with, or carriers of, any type of bleeding disorder during pregnancy were eligible for the review.

    DATA COLLECTION AND ANALYSIS: No trials matching the selection criteria were eligible for inclusion MAIN RESULTS: No results from randomised controlled trials were found.

    AUTHORS' CONCLUSIONS: The review did not identify any randomised controlled trials investigating the safest mode of delivery and associated maternal and foetal complications during delivery in women with, or carriers of, a bleeding disorder. In the absence of high quality evidence, clinicians need to use their clinical judgement and lower level evidence (e.g. from observational trials, case studies) to decide upon the optimal mode of delivery to ensure the safety of both mother and foetus.Given the ethical considerations, the rarity of the disorders and the low incidence of both maternal and foetal complications, future randomised controlled trials to find the optimal mode of delivery in this population are unlikely to be carried out. Other high quality controlled studies (such as risk allocation designs, sequential design, and parallel cohort design) are needed to investigate the risks and benefits of natural vaginal and caesarean section in this population or extrapolation from other clinical conditions that incur a haemorrhagic risk to the baby, such as platelet alloimmunisation.

    Matched MeSH terms: Heterozygote*
  2. Zainal N, Azimah E, Hassan Z, Abu Hassan H, Hashim M
    Sains Malaysiana, 2014;43:1557-1564.
    In this work, the emission efficiency of InxGa1-xN based light emitting diodes (LEDs) had been numerically investigated with the variation of the number of quantum well. From our calculation, we found that non-uniformity of carriers distribution (especially electron) in the wells leads to serious inhomogeneity of radiative recombination distribution that would degrade the efficiency of the LED with more wells. However, the problem was minimized when the selected quantum barriers were doped with a reasonable doping level. Comparison with other reported experimental works were also included. At the end of this work, we proposed several types of preferable LEDs designs with optimum structural parameters.
    Matched MeSH terms: Heterozygote
  3. George E
    Family Practitioner, 1988;11:89-89.
    Hereditary haemolytic anaemias, in particular, thalassaemia and the haemoglobinopathies, have been found to be a significant cause of hereditary haemolytic disease in West Malaysia. Theoretically 1 in 2500 marriages are between heterozygotes for beta-thalassaemia and 1 in 10,000 children can be expected to have thalassaemia major. An approach to the prevention of this disease would be public education and identification of carriers: to develop some approach to the identification and genetic counselling of beta-thalassaemia trait.
    Matched MeSH terms: Heterozygote
  4. Sa'at H, Lee YK, Yoon SY, Wong SW, Woo YL, Barlow-Stewart K, et al.
    Int J Behav Med, 2022 Feb;29(1):1-13.
    PMID: 33791992 DOI: 10.1007/s12529-021-09984-y
    BACKGROUND: The uptake of risk-reducing salpingo-oophorectomy (RRSO) in Asian countries is variable despite being the most effective option for ovarian cancer risk reduction in BRCA mutation carriers. Exploration of factors which may impact the RRSO decision-making of BRCA mutation carriers from Malaysia, a developing country in Southeast Asia, was undertaken.

    METHODS: In-depth interviews with 28 Malaysian BRCA mutation carriers with a history of breast cancer were conducted in addition to observing their RRSO decision-making consultations in the clinic.

    RESULTS: The decision-making considerations among the carriers were centered around the overarching theme of "Negotiating cancer risk and womanhood priorities," with the following themes: (1) risk perception, (2) self-preservation, (3) motherhood obligation, and (4) the preciousness of marriage. Cognitive knowledge of BRCA risk was often conceptualized based on personal and family history of cancer, personal beliefs, and faith. Many women reported fears that RRSO would affect them physically and emotionally, worrying about the post-surgical impact on their motherhood responsibilities. Nevertheless, some reported feeling obliged to choose RRSO for the sake of their children. For some, their husband's support and approval were critical, with emotional well-being and sexuality reportedly perceived as important to sustaining married life. Despite reporting hesitancy toward RRSO, women's decisions about choosing this option evolved as their priorities changed at different stages of life.

    CONCLUSIONS: Recognizing during clinic encounters with Malaysian women that RRSO decision-making involves negotiating the likelihood of developing cancer with the societal priorities of being a woman, mother, and wife may serve to support their decision-making.

    Matched MeSH terms: Heterozygote
  5. Sthaneshwar P, Shanmugam H, Swan VG, Nasurdin N, Tanggaiah K
    Pathology, 2013 06;45(4):417-9.
    PMID: 23635828 DOI: 10.1097/PAT.0b013e32836142eb
    AIM: Measurement of HbA1c provides an excellent measure of glycaemic control for diabetic patients. However, haemoglobin (Hb) variants are known to interfere with HbA1c analysis. In our laboratory HbA1c measurement is performed by Variant II turbo 2.0. The aim of this study is to investigate the influence of HbE trait on HbA1c analysis.

    METHODS: Haemoglobin variants were identified by HbA1c analysis in 93 of 3522 samples sent to our laboratory in a period of 1 month. Haemoglobin analysis identified HbE trait in 81 of 93 samples. To determine the influence of HbE trait on HbA1c analysis by Variant II Tubo 2.0, boronate affinity high performance liquid chromatography (HPLC) method (Primus PDQ) was used as the comparison method. Two stage linear regression analysis, Bland Altman plot and Deming regression analysis were performed to analyse whether the presence of HbE trait produced a statistically significant difference in the results. The total allowable error for HbA1c by the Royal Australasian College of Pathologists (RCPA) external quality assurance is 5%. Hence clinically significant difference is more than 5% at the medical decision level of 6% and 9%.

    RESULTS: Statistically and clinically significant higher results were observed in Variant II Turbo 2.0 due to the presence of HbE trait. A positive bias of ∼10% was observed at the medical decision levels.

    CONCLUSION: Laboratories should be cautious when evaluating HbA1c results in the presence of haemoglobin variants.

    Matched MeSH terms: Heterozygote*
  6. Ng KK, Lee SL, Tsumura Y, Ueno S, Ng CH, Lee CT
    Mol Ecol Resour, 2009 Jan;9(1):393-8.
    PMID: 21564660 DOI: 10.1111/j.1755-0998.2008.02238.x
    Simple sequence repeats (SSRs) derived from expressed sequence tags (ESTs) are valuable markers because they represent transcribed regions and often transferable to related taxa. Here, we report the development and characterization of EST-SSRs from Shorea leprosula. Fifty-four sequences containing SSRs were identified in 2003 unigenes assembled from 3159 ESTs. Twenty-four EST-SSRs were developed, of which four gave multiple amplifications, five were found to be monomorphic and 15 showed polymorphism, with allele numbers ranging from two to 17 in a single Pasoh Forest Reserve population of 24 individuals. The observed and expected heterozygosities ranged from 0.05 to 0.91 and from 0.16 to 0.93, respectively. Cross-species transferability of the 15 loci to 36 species within Dipterocarpaceae revealed between four and 14 loci that gave positive amplification and 10 loci were found to be transferable to more than 15 species.
    Matched MeSH terms: Heterozygote
  7. Hafiza A, Malisa MY, Khirotdin RD, Azlin I, Azma Z, Thong MC, et al.
    Malays J Pathol, 2012 Dec;34(2):161-4.
    PMID: 23424780
    The capillary electrophoresis (CE) is a new system that utilizes the principle of electrokinetic separation of molecules in eight electrolyte buffer-filled silica capillaries. In this study, we established the normal ranges of haemoglobin A2 (HbA2) and haemoglobin F (HbF) levels for normal individuals using this system and also the HbA2 level in beta thalassaemia and haemoglobin E (HbE) individuals.
    Matched MeSH terms: Heterozygote; Heterozygote Detection/methods
  8. Jamsari AF, Min-Pau T, Siti-Azizah MN
    Genet Mol Biol, 2011 Apr;34(2):345-7.
    PMID: 21734840
    Seven polymorphic microsatellite loci were isolated and characterized for the snakehead murrel, Channa striata (Channidae), a valuable tropical freshwater fish species. Among 25 specimens collected from Kedah state in Malaysia, the number of alleles per locus ranged from 2 to 7. Observed and expected heterozygosities ranged from 0.120 to 0.880 and 0.117 to 0.698, respectively. A single locus (CS1-C07) was significantly deviated from Hardy-Weinberg equilibrium after Bonferroni correction. These novel markers would be useful for population genetic studies of the C. striata.
    Matched MeSH terms: Heterozygote
  9. Bhassu S, See LM, Hassan R, Siraj SS, Tan SG
    Mol Ecol Resour, 2008 Sep;8(5):983-5.
    PMID: 21585948 DOI: 10.1111/j.1755-0998.2008.02127.x
    Eight single locus microsatellite markers were developed to characterize the Malaysian giant freshwater prawn, Macrobrachium rosenbergii. These microsatellites were isolated from an enriched genomic library contained by using a 5'-anchored polymerase chain reaction technique. Primers were designed to flank the repeat sequences and subsequently used to characterize 30 unrelated individuals of the giant freshwater prawn. The polymerase chain reaction amplification products of these eight microsatellite loci were polymorphic with the number of alleles ranging from two to 10 alleles per locus while the levels of heterozygosity ranged from 0.6333 to 0.8667.
    Matched MeSH terms: Heterozygote
  10. Walton C, Chang MS, Handley JM, Harbach RE, Collins FH, Baimai V, et al.
    Mol Ecol, 2000 Oct;9(10):1665-7.
    PMID: 11050564
    Matched MeSH terms: Heterozygote
  11. Yong HS
    Comp. Biochem. Physiol., B, 1984;78(2):321-3.
    PMID: 6236032
    Seven natural populations of Dacus dorsalis were analysed for phosphoglucomutase by means of horizontal starch-gel electrophoresis. The electrophoretic phenotypes were governed by four codominant Pgm alleles. The commonest allele in all the seven population samples was PgmB which encoded an electrophoretic band with intermediate mobility. The distributions of PGM phenotype were in accordance with Hardy-Weinberg expectations. There was geographic variation in the distribution of Pgm alleles.
    Matched MeSH terms: Heterozygote
  12. Singh BN
    Theor Appl Genet, 1985 Jul;69(4):437-41.
    PMID: 24253913 DOI: 10.1007/BF00570914
    The relative viabilities of homozygous and heterozygous karyotypes were measured by making crosses between strains ofD. ananassae homozygous for ST or inverted gene orders in the second and third chromosomes. The strains utilized during the present study originated from widely separated localities in India, Kuala Lumpur and Kota Kinabaru, Malaysia and Chian Mai, Thailand. The presence of heterosis in many interpopulation crosses is evident from the results which show that the inversion heterozygotes formed by chromosomes coming from distant populations exhibit heterosis. On the other hand, heterosis is absent in two intrapopulation crosses. Thus the present results provide evidence that heterozygosis for many genes and gene complexes does produce high fitness without previous selectional coadaptation.
    Matched MeSH terms: Heterozygote
  13. Abdul Aziz Mohamed Yusoff, Wan Salihah Wan Abdullah, Alarmelu Nithya Ramanathan, Jafri Malin Abdullah, Zamzuri Idris
    Although the precise etiology of Glioblastoma multiforme (GBM, WHO grade IV) remains unknown, its progression
    is believed to be driven by the accumulation of multiple genetic alterations. Here, we report a case of a patient who
    developed GBM, and associated with dual alterations, particularly 4977-bp deletion in mtDNA (mtDNA4977) and
    p.Arg132His (R132H) mutation in IDH1. A 35-year old Malaysian woman patient who primary diagnosed with astrocytoma WHO grade I and subsequently after four years developed a GBM, was detected with a mtDNA4977. This
    deletion appears to be a sporadic mutation. Additionally, analysis of patient’s tumor tissue also found to harbor a heterozygous IDH1 R132H mutation. This represents the first case report of coexisting mtDNA4977 together with IDH1
    R132H mutation in a Malaysian patient of GBM. The findings of dual alterations could be of therapeutic benefit if
    these alterations were justified to be contributing to GBM growth and aggressiveness.
    Matched MeSH terms: Heterozygote
  14. Ismail SN, Ghani NSA, Ab Razak SF, Abidin RAZ, Mohd Yusof MF, Zubir MN, et al.
    Trop Life Sci Res, 2020 Oct;31(3):15-27.
    PMID: 33214853 DOI: 10.21315/tlsr2020.31.3.2
    Assessments of genetic diversity have been claimed to be significantly efficient in utilising and managing resources of genetic for breeding programme. In this study, variations in genetic were observed in 65 pineapple accessions gathered from germplasm available at Malaysian Agriculture Research and Development Institute (MARDI) located in Pontian, Johor via 15 markers of simple sequence repeat (SSR). The results showed that 59 alleles appeared to range from 2.0 to 6.0 alleles with a mean of 3.9 alleles per locus, thus displaying polymorphism for all samples at a moderate level. Furthermore, the values of polymorphic information content (PIC) had been found to range between 0.104 (TsuAC035) and 0.697 (Acom_9.9), thus averaging at the value of 0.433. In addition, the expected and the observed heterozygosity of each locus seemed to vary within the ranges of 0.033 to 0.712, and from 0.033 to 0.885, along with the average values of 0.437 and 0.511, respectively. The population structure analysis via method of delta K (ΔK), along with mean of L (K) method, revealed that individuals from the germplasm could be divided into two major clusters based on genetics (K = 2), namely Group 1 and Group 2. As such, five accessions (Yankee, SRK Chalok, SCK Giant India, SC KEW5 India and SC1 Thailand) were clustered in Group 1, while the rest were clustered in Group 2. These outcomes were also supported by the dendrogram, which had been generated through the technique of unweighted pair group with arithmetic mean (UPGMA). These analyses appear to be helpful amongst breeders to maintain and to manage their collections of germplasm. Besides, the data gathered in this study can be useful for breeders to exploit the area of genetic diversity in estimating the level of heterosis.
    Matched MeSH terms: Heterozygote
  15. Noorhariza Mohd Zaki, Rozana Rosli, Ting NC, Singh R, Ismanizan Ismail
    Ten Elaeis oleifera microsatellite markers were developed and characterised from 1500 sequences of the E. oleifera genomic library. The markers were utilised to assess the genetic diversity of E. oleifera germplasm collections from four South American countries (Colombia, Costa Rica, Panama and Honduras). The number of alleles per-locus varied from 2 to 11 and the observed and expected heterozygosity ranged from 0.0685 to 0.9853 and 0.1393 to 0.8216 respectively. Majority of the markers showed transferability to Elaeis guineensis while two markers showed transferability across Arecaceae taxa. These E. oleifera microsatellite markers are expected to become useful tools to determine the population structure and conservation of E. oleifera populations.
    Matched MeSH terms: Heterozygote
  16. Alauddin H, Jaapar NA, Azma RZ, Ithnin A, Razak NF, Loh CK, et al.
    Hemoglobin, 2014;38(4):277-81.
    PMID: 24829075 DOI: 10.3109/03630269.2014.916720
    Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α(codon 59)α/α(CS)α), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (α(codon 59)α/-α(3.7)). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.
    Matched MeSH terms: Heterozygote*
  17. Nadarajan V, Shanmugam H, Sthaneshwar P, Jayaranee S, Sultan KS, Ang C, et al.
    Int J Lab Hematol, 2011 Oct;33(5):463-70.
    PMID: 21501392 DOI: 10.1111/j.1751-553X.2011.01309.x
    The glucose-6-phosphate dehydrogenase (G6PD) fluorescent spot test (FST) is a useful screening test for G6PD deficiency, but is unable to detect heterozygote G6PD-deficient females. We sought to identify whether reporting intermediate fluorescence in addition to absent and bright fluorescence on FST would improve identification of mildly deficient female heterozygotes.

    A total of 1266 cord blood samples (705 male, 561 female) were screened for G6PD deficiency using FST (in-house method) and a quantitative enzyme assay. Fluorescence intensity of the FST was graded as either absent, intermediate or normal. Samples identified as showing absent or intermediate fluorescence on FST were analysed for the presence of G6PD mutations using TaqMan@SNP genotyping assays and direct nucleotide sequencing.

    Of the 1266 samples, 87 samples were found to be intermediate or deficient by FST (49 deficient, 38 intermediate). Of the 49 deficient samples, 48 had G6PD enzyme activity of ≤ 9.5 U/g Hb and one sample had normal enzyme activity. All 38 intermediate samples were from females. Of these, 21 had G6PD activity of between 20% and 60%, and 17 samples showed normal G6PD activity. Twenty-seven of the 38 samples were available for mutation analysis of which 13 had normal G6PD activity. Eleven of the 13 samples with normal G6PD activity had identifiable G6PD mutations.

    Glucose-6-phosphate dehydrogenase heterozygote females cannot be identified by FST if fluorescence is reported as absent or present. Distinguishing samples with intermediate fluorescence from absent and bright fluorescence improves detection of heterozygote females with mild G6PD deficiency. Mutational studies confirmed that 85% of intermediate samples with normal enzyme activity had identifiable G6PD mutations.
    Matched MeSH terms: Heterozygote*
  18. Nadarajan VS, Sthaneshwar P, Jayaranee S
    Int J Lab Hematol, 2010 Apr;32(2):215-21.
    PMID: 19566741 DOI: 10.1111/j.1751-553X.2009.01174.x
    Individuals with alpha-thalassaemia (ATT), beta-thalassaemia (BTT) and HbE trait (HET) are often initially identified based on haematological parameters. However, the values of these parameters usually overlap with iron deficiency anaemia (IDA) and anaemia of chronic disease (ACD). We evaluated the use of RBC-Y in 156 normal individuals and 332 patients; ATT (n = 37), BTT (n = 61), HET (n = 25), HbH disease (n = 5), ACD (n = 67), IDA (n = 83) and ACD with IDA (n = 54). Diagnostic efficiency was analysed by receiver operating characteristics (ROC). MCH was better compared with RBC-Y in discriminating normal from abnormal with sensitivity and specificity of 94% at a cut-off of 26 pg. The Green and King (G&K) index performed the best in discriminating carriers from IDA and ACD with area under the ROC curve (AUC(ROC)) of 0.81. However, if ACD was excluded, RBC-Y/MCV was a good discriminator for carriers from IDA with AUC(ROC) = 0.845. In general screening of populations with ATT, BTT and HET, we propose that hypochromic individuals be first identified by MCH <26 pg and carriers distinguished within these hypochromic individuals from IDA by using RBC-Y/MCV. However, if the prevalence of ACD were high within the screening population, G&K index would be a more suitable discriminator.
    Matched MeSH terms: Heterozygote*
  19. Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, et al.
    Breast Cancer Res Treat, 2017 01;161(1):117-134.
    PMID: 27796716 DOI: 10.1007/s10549-016-4018-2
    PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways.

    METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2.

    RESULTS: We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10-6). This association was absent in BRCA2 carriers (p = 0.57). The 11q22.3 region notably encompasses genes such as ACAT1, NPAT, and ATM. Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. In silico analysis revealed some overlap between top risk-associated SNPs and relevant biological features in mammary cell data, which suggests potential functional significance.

    CONCLUSION: We identified 11q22.3 as a new modifier locus in BRCA1 carriers. Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk.

    Matched MeSH terms: Heterozygote*
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