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  1. Noordin R, Yunus MH, Saidin S, Mohamed Z, Fuentes Corripio I, Rubio JM, et al.
    Am J Trop Med Hyg, 2020 12;103(6):2233-2238.
    PMID: 32996457 DOI: 10.4269/ajtmh.20-0348
    Independent evaluations of XEh Rapid®, an IgG4-based rapid dipstick test, were performed to assess its diagnostic performance to detect amebic liver abscess (ALA) using 405 samples at seven laboratories in four countries. The test showed high diagnostic specificity (97-100%) when tested with samples from healthy individuals (n = 100) and patients with other diseases (n = 151). The diagnostic sensitivity was tested with a total of 154 samples, and the results were variable. It was high in three laboratories (89-94%), and moderate (72%) and low (38%) in two other laboratories. Challenges and issues faced in the evaluation process are discussed. Nevertheless, XEh Rapid is promising to be developed into a point-of-care test in particular for resource-limited settings, and thus merits further confirmation of its diagnostic sensitivity.
  2. Islam M, Mohamed EH, Esa E, Kamaluddin NR, Zain SM, Yusoff YM, et al.
    Br. J. Cancer, 2017 Nov 07;117(10):1551-1556.
    PMID: 28898234 DOI: 10.1038/bjc.2017.316
    BACKGROUND: Although aberrant expression of cytokines and small molecules (analytes) is well documented in acute myeloid leukaemia (AML), their co-expression patterns are not yet identified. In addition, plasma baselines for some analytes that are biomarkers for other cancers have not been previously reported in AML.

    METHODS: We used multiplex array technology to simultaneously detect and quantify 32 plasma analyte (22 reported analytes and 10 novel analytes) levels in 38 patients.

    RESULTS: In our study, 16 analytes are found to be significantly deregulated (13 higher, 3 lower, Mann-Whitney U-test, P-value <0.005), where 5 of them have never been reported before in AML. We predicted a seven-analyte-containing multiplex panel for diagnosis of AML and, among them, MIF could be a possible therapeutic target. In addition, we observed that circulating analytes show five co-expression signatures.

    CONCLUSIONS: Circulating analyte expression in AML significantly differs from normal, and follow distinct expression patterns.

  3. Ablat A, Halabi MF, Mohamad J, Hasnan MH, Hazni H, Teh SH, et al.
    BMC Complement Altern Med, 2017 Feb 06;17(1):94.
    PMID: 28166749 DOI: 10.1186/s12906-017-1610-x
    Brucea javanica (B. javanica) seeds, also known as "Melada pahit" in Indo-Malay region are traditionally used to treat diabetes. The objective of this study was to determine antidiabetic, antioxidant and anti-inflammatory effects of B. javanica seeds on nicotinamide (NA)-streptozotocin (STZ) induced type 2 diabetic (T2D) rats and to analyze its chemical composition that correlate with their pharmacological activities.
  4. Harith AA, Mohamed Z, Mohammad A, Lim KK, Reffin N, Mohd Fadzil M, et al.
    Med J Malaysia, 2023 Sep;78(5):653-660.
    PMID: 37775494
    INTRODUCTION: Healthcare drivers, including ambulance drivers, were less concerned about health and safety during the COVID-19 pandemic, with not only the risk of COVID-19 infection but also a higher risk of prolonged states of alertness, stress, burnout, fatigue and road traffic accident. This study aimed to determine the prevalence of stress and its associated factors among healthcare drivers, especially during the COVID-19 pandemic.

    MATERIALS AND METHODS: This study employs a crosssectional study design and utilises self-reported data obtained from locally validated personal stress inventory questionnaires. The data collection period spanned from August 1 to 31, 2020. The study sample consisted of 163 healthcare drivers affiliated with the Negeri Sembilan State Health Department. The Chi-square test and Fisher's exact test were the first used to determine the association between variables prior to conducting multiple logistic regression to predict the relationship between dependent and independent variables.

    RESULTS: In COVID-19's first year, 7.4% (n = 12) of healthcare drivers reported perceived stress with ambulance drivers reporting more stress (10.6%; n = 5) than non-ambulance drivers (6.0%; n = 7). Simple statistical analysis identified perceived stress significantly associated with household income, smoking status and performing on-call. Further analysis by multiple logistic regression found that perceived stress was significantly related to smoking (aOR 19.9, 95% CI: 1.86-213.90), and performing on-call (aOR 8.69, 95% CI 1.21-62.28). Nevertheless, no association was found between perceived stress and age, ethnicity, marital status, education, household income, co-morbidities, driving assignment, employment duration, needing a part-time job or motor vehicle accident history.

    CONCLUSION: The study found that the perceived stress amongst Malaysian healthcare drivers during the COVID-19 pandemic was relatively low. This could be due to fewer lifethreatening tasks, emergencies, assigned tasks and increase income due to overtime during the COVD-19 pandemic. The OSH team's efforts to provide consistent safety and health training, including stress management, may have contributed to the healthcare driver's ability to effectively manage the stressful circumstances encountered during the pandemic. In order to enhance salary competitiveness, employers should provide financial management education alongside subsidised housing and childcare provisions. Healthcare drivers who smoke should be taught different stress reduction techniques so that they can handle their stress in a healthy way.

  5. Ling MH, Ivorra T, Heo CC, Wardhana AH, Hall MJR, Tan SH, et al.
    Med Vet Entomol, 2023 Dec;37(4):767-781.
    PMID: 37477152 DOI: 10.1111/mve.12682
    In medical, veterinary and forensic entomology, the ease and affordability of image data acquisition have resulted in whole-image analysis becoming an invaluable approach for species identification. Krawtchouk moment invariants are a classical mathematical transformation that can extract local features from an image, thus allowing subtle species-specific biological variations to be accentuated for subsequent analyses. We extracted Krawtchouk moment invariant features from binarised wing images of 759 male fly specimens from the Calliphoridae, Sarcophagidae and Muscidae families (13 species and a species variant). Subsequently, we trained the Generalized, Unbiased, Interaction Detection and Estimation random forests classifier using linear discriminants derived from these features and inferred the species identity of specimens from the test samples. Fivefold cross-validation results show a 98.56 ± 0.38% (standard error) mean identification accuracy at the family level and a 91.04 ± 1.33% mean identification accuracy at the species level. The mean F1-score of 0.89 ± 0.02 reflects good balance of precision and recall properties of the model. The present study consolidates findings from previous small pilot studies of the usefulness of wing venation patterns for inferring species identities. Thus, the stage is set for the development of a mature data analytic ecosystem for routine computer image-based identification of fly species that are of medical, veterinary and forensic importance.
  6. Mohamad N, Pahrol MA, Shaharudin R, Md Yazin NKR, Osman Y, Toha HR, et al.
    Front Public Health, 2022;10:878396.
    PMID: 35923958 DOI: 10.3389/fpubh.2022.878396
    Healthcare workers (HCWs) are at risk of contracting coronavirus disease-2019 (COVID-19) in their workplace. Infection prevention guidelines and standard operating procedures were introduced to reduce risk of exposure and prevent transmission. Safe practices during interaction with patients with COVID-19 are crucial for infection prevention and control (IPC). This study aimed to assess HCWs' compliance to IPC and to determine its association with sociodemographic and organizational factors. A cross-sectional study was conducted between March and April 2021 at public healthcare facilities in the east coast of Peninsular Malaysia. HCWs who were involved with COVID-19-related works were invited to participate in the online survey. The questionnaire was adapted from the World Health Organization (WHO) Interim Guidance: WHO Risk Assessment and Management of Exposure of Healthcare Workers in the Context of COVID-19. Respondents were categorized as compliant or non-compliant to IPC. A total of 600 HCWs involved in COVID-19-related works participated in the survey. Most of them (63.7%) were compliant to IPC as they responded to all items as "always, as recommended" during interaction with patients with COVID-19. The multivariate analysis showed that non-compliance was significantly associated with working in the emergency department (AOR = 3.16; 95% CI = 1.07-9.31), working as laboratory personnel (AOR = 15.13; 95% CI = 1.36-168.44), health attendant (AOR = 4.42; 95% CI = 1.74-11.24), and others (AOR = 3.63; 95% CI = 1.1-12.01), as well as work experience of more than 10 years (AOR = 4.71; 95% CI = 1.28-17.27). The odds of non-compliance among respondents without adequate new norms and personal protective equipment training were 2.02 (95% CI = 1.08-3.81) more than those with adequate training. Although most of the respondents complied to IPC protocols, compliance status differed according to department, work category, and years of service. Ensuring adequate training that will hopefully lead to behavioral change is crucial to prevent breach in IPC and thus minimize the risk of exposure to and transmission of COVID-19 in healthcare facilities.
  7. Rouhollahi E, Zorofchian Moghadamtousi S, Paydar M, Fadaeinasab M, Zahedifard M, Hajrezaie M, et al.
    PMID: 25652758 DOI: 10.1186/s12906-015-0534-6
    BACKGROUND: Curcuma purpurascens BI. (Zingiberaceae) commonly known as 'Koneng Tinggang' and 'Temu Tis' is a Javanese medicinal plant which has been used for numerous ailments and diseases in rural Javanese communities. In the present study, the apoptogenic activity of dichloromethane extract of Curcuma purpurascens BI. rhizome (DECPR) was investigated against HT-29 human colon cancer cells.
    METHODS: Acute toxicity study of DECPR was performed in Sprague-Dawley rats. Compounds of DECPR were analyzed by the gas chromatography-mass spectrometry-time of flight (GC-MS-TOF) analysis. Cytotoxic effect of DECPR on HT-29 cells was analyzed by MTT and lactate dehydrogenase (LDH) assays. Effects of DECPR on reactive oxygen species (ROS) formation and mitochondrial-initiated events were investigated using a high content screening system. The activities of the caspases were also measured using a fluorometric assay. The quantitative PCR analysis was carried out to examine the gene expression of Bax, Bcl-2 and Bcl-xl proteins.
    RESULTS: The in vivo acute toxicity study of DECPR on rats showed the safety of this extract at the highest dose of 5 g/kg. The GC-MS-TOF analysis of DECPR detected turmerone as the major compound in dichloromethane extract. IC50 value of DECPR towards HT-29 cells after 24 h treatment was found to be 7.79 ± 0.54 μg/mL. In addition, DECPR induced LDH release and ROS generation in HT-29 cells through a mechanism involving nuclear fragmentation and cytoskeletal rearrangement. The mitochondrial-initiated events, including collapse in mitochondrial membrane potential and cytochrome c leakage was also triggered by DECPR treatment. Initiator caspase-9 and executioner caspase-3 was dose-dependently activated by DECPR. The quantitative PCR analysis on the mRNA expression of Bcl-2 family of proteins showed a significant up-regulation of Bax associated with down-regulation in Bcl-2 and Bcl-xl mRNA expression.
    CONCLUSIONS: The findings presented in the current study showed that DECP suppressed the proliferation of HT-29 colon cancer cells and triggered the induction of apoptosis through mitochondrial-dependent pathway.
  8. Zain SM, Mohamed R, Cooper DN, Razali R, Rampal S, Mahadeva S, et al.
    PLoS One, 2014;9(4):e95604.
    PMID: 24743702 DOI: 10.1371/journal.pone.0095604
    Between 10 and 25% of individuals with non-alcoholic fatty liver disease (NAFLD) develop hepatic fibrosis leading to cirrhosis and hepatocellular carcinoma (HCC). To investigate the molecular basis of disease progression, we performed a genome-wide analysis of copy number variation (CNV) in a total of 49 patients with NAFLD [10 simple steatosis and 39 non-alcoholic steatohepatitis (NASH)] and 49 matched controls using high-density comparative genomic hybridization (CGH) microarrays. A total of 11 CNVs were found to be unique to individuals with simple steatosis, whilst 22 were common between simple steatosis and NASH, and 224 were unique to NASH. We postulated that these CNVs could be involved in the pathogenesis of NAFLD progression. After stringent filtering, we identified four rare and/or novel CNVs that may influence the pathogenesis of NASH. Two of these CNVs, located at 13q12.11 and 12q13.2 respectively, harbour the exportin 4 (XPO4) and phosphodiesterase 1B (PDE1B) genes which are already known to be involved in the etiology of liver cirrhosis and HCC. Cross-comparison of the genes located at these four CNV loci with genes already known to be associated with NAFLD yielded a set of genes associated with shared biological processes including cell death, the key process involved in 'second hit' hepatic injury. To our knowledge, this pilot study is the first to provide CNV information of potential relevance to the NAFLD spectrum. These data could prove invaluable in predicting patients at risk of developing NAFLD and more importantly, those who will subsequently progress to NASH.
  9. Sha'ari HM, Haerian BS, Baum L, Saruwatari J, Tan HJ, Rafia MH, et al.
    Pharmacogenomics, 2014 Mar;15(4):459-66.
    PMID: 24624913 DOI: 10.2217/pgs.13.239
    To examine the relevance of ABCC2 polymorphisms to drug responsiveness in epilepsy cohorts from the Asia Pacific region.
  10. Haerian BS, Lim KS, Tan HJ, Mohamed EH, Tan CT, Raymond AA, et al.
    Epileptic Disord, 2011 Mar;13(1):65-75.
    PMID: 21388909 DOI: 10.1684/epd.2011.0419
    Over-expression of P-glycoprotein, encoded by the ABCB1 gene, is proposed to be involved in resistance to antiepileptic drugs in about 30% of patients with epilepsy. Here, we investigated the possible association between ABCB1 polymorphisms and sodium valproate (VPA) treatment in Malaysian epilepsy patients. Genotypes were assessed in 249 drug-resistant and 256 drug-responsive Malaysian patients for C1236T, G2677T/A, and C 5T polymorphisms in the ABCB1 gene. No genotypes, alleles, or haplotypes were associated with the response to VPA in either the overall group or Chinese, Indian, and Malay subgroups. Our data suggest that C1236T, G2677T/A, and C3435T polymorphisms in the ABCB1 gene do not contribute to the response to VPA in patients with epilepsy.
  11. Haerian BS, Baum L, Kwan P, Cherny SS, Shin JG, Kim SE, et al.
    Mol Neurobiol, 2016 10;53(8):5457-67.
    PMID: 26452361 DOI: 10.1007/s12035-015-9457-y
    Gamma-aminobutyric acid receptor (GABA-A) is the most common receptor of fast synaptic inhibition in the human brain. Gamma protein encoded by the GABRG2 gene is one of the subunits of the GABA-A receptor, which plays an essential role in the function of this receptor. Several studies have identified various febrile seizure (FS) and epilepsy risk variants of GABRG2 gene in different populations, but some others did not support these results. The aim of this case-control study is to investigate whether GABRG2 polymorphisms contribute to susceptibility for FS and epilepsy in pooled data of three cohorts, from Malaysia (composed of Malay, Chinese, and Indian), Hong Kong, and Korea. Furthermore, the pooled dataset of these cohorts with previous reports were meta-analyzed for determining the risk effect size of the rs211037 polymorphism on FS and symptomatic epilepsy (SE). The rs211037, rs210987, rs440218, rs2422106, rs211014, and rs401750 polymorphisms were genotyped in the 6442 subjects (1729 epilepsy and 4713 controls). Results of the case-control study showed associations between rs211037 and the risk of SE in the pooled data from all cohorts (T vs. C, p = 3 × 10(-5), and TT vs. CC, p = 2 × 10(-5)) and the risk of partial seizure in the combined data of Malaysia and Hong Kong (both T vs. C and TT vs. CC, p = 2 × 10(-6)). The rs211037-rs210987 and rs2422106-rs211014-rs401750 haplotypes were also associated with susceptibility to SE in Chinese. Meta-analysis of all Asians identified association between rs211037 and FS and SE (T vs. C, p = 4 × 10(-4), and p = 4 × 10(-3), respectively). In conclusion, rs211037 alone may be a risk factor for FS, partial seizure, and SE, and in linkage disequilibrium with rs210987 can contribute to FS and SE in Asians, particularly in Chinese.
  12. Rouhollahi E, Moghadamtousi SZ, Al-Henhena N, Kunasegaran T, Hasanpourghadi M, Looi CY, et al.
    Drug Des Devel Ther, 2015;9:3911-22.
    PMID: 26251570 DOI: 10.2147/DDDT.S84560
    Curcuma purpurascens BI. rhizome, a member of the Zingiberaceae family, is a popular spice in Indonesia that is traditionally used in assorted remedies. Dichloromethane extract of C. purpurascens BI. rhizome (DECPR) has previously been shown to have an apoptosis-inducing effect on colon cancer cells. In the present study, we examined the potential of DECPR to prevent colon cancer development in rats treated with azoxymethane (AOM) (15 mg/kg) by determining the percentage inhibition in incidence of aberrant crypt foci (ACF). Starting from the day immediately after AOM treatment, three groups of rats were orally administered once a day for 2 months either 10% Tween 20 (5 mL/kg, cancer control), DECPR (250 mg/kg, low dose), or DECPR (500 mg/kg, high dose). Meanwhile, the control group was intraperitoneally injected with 5-fluorouracil (35 mg/kg) for 5 consecutive days. After euthanizing the rats, the number of ACF was enumerated in colon tissues. Bax, Bcl-2, and proliferating cell nuclear antigen (PCNA) protein expressions were examined using immunohistochemical and Western blot analyses. Antioxidant enzymatic activity was measured in colon tissue homogenates and associated with malondialdehyde level. The percentage inhibition of ACF was 56.04% and 68.68% in the low- and high-dose DECPR-treated groups, respectively. The ACF inhibition in the treatment control group was 74.17%. Results revealed that DECPR exposure at both doses significantly decreased AOM-induced ACF formation, which was accompanied by reduced expression of PCNA. Upregulation of Bax and downregulation of Bcl-2 suggested the involvement of apoptosis in the chemopreventive effect of DECPR. In addition, the oxidative stress resulting from AOM treatment was significantly attenuated after administration of DECPR, which was shown by the elevated antioxidant enzymatic activity and reduced malondialdehyde level. Taken together, the present data clearly indicate that DECPR significantly inhibits ACF formation in AOM-treated rats and may offer protection against colon cancer development.
  13. Sha'ari HM, Haerian BS, Baum L, Tan HJ, Rafia MH, Kwan P, et al.
    Mol Neurobiol, 2016 07;53(5):2869-2877.
    PMID: 25876511 DOI: 10.1007/s12035-015-9150-1
    Epilepsy is a common neurological disease characterized by recurrent unprovoked seizures. Evidence suggested that abnormal activity of brain-derived neurotrophic factor (BDNF) contributes to the pathogenesis of epilepsy. Some previous studies identified association between genetic variants of BDNF and risk of epilepsy. In this study, this association has been examined in the Hong Kong and Malaysian epilepsy cohorts. Genomic DNA of 6047 subjects (1640 patients with epilepsy and 4407 healthy individuals) was genotyped for rs6265, rs11030104, rs7103411, and rs7127507 polymorphisms by using Sequenom MassArray and Illumina HumanHap 610-Quad or 550-Duo BeadChip arrays techniques. Results showed significant association between rs6265 T, rs7103411 C, and rs7127507 T and cryptgenic epilepsy risk (p = 0.00003, p = 0.0002, and p = 0.002, respectively) or between rs6265 and rs7103411 and symptomatic epilepsy risk in Malaysian Indians (TT vs. CC, p = 0.004 and T vs. C, p = 0.0002, respectively) as well as between rs6265 T and risk of cryptogenic epilepsy in Malaysian Chinese (p = 0.005). The Trs6265-Crs7103411-Trs7127507 was significantly associated with cryptogenic epilepsy in Malaysian Indians (p = 0.00005). In conclusion, our results suggest that BDNF polymorphisms might contribute to the risk of epilepsy in Malaysian Indians and Chinese.
  14. Wong WK, Mohd-Nor N, Noordin R, Foo PC, Mohamed Z, Haq JA, et al.
    Parasitol Res, 2019 Sep;118(9):2635-2642.
    PMID: 31363922 DOI: 10.1007/s00436-019-06406-7
    The geographical distribution of tuberculosis (TB) overlaps with various parasitic infections. Uncovering the characteristics of coinfecting parasites that potentially affect the host susceptibility to TB is pertinent as it may provide input to current TB therapeutic and prophylactic measures. The present study was aimed at examining the types of parasitic infections in TB patients and healthy TB contacts (HC) in Orang Asli, Malaysian aborigines, who dwelled in the co-endemic areas. Stool and serum samples were collected from Orang Asli who fulfilled the selection criteria and provided written informed consents. Selected parasitic infections in the two study groups were determined by stool examination and commercial serum antibody immunoassays. The prevalence of parasitic infections in TB and HC participants were 100% (n = 82) and 94.6% (n = 55) respectively. The parasitic infections comprised toxocariasis, trichuriasis, amoebiasis, toxoplasmosis, hookworm infection, ascariasis, strongyloidiasis, and brugian filariasis, in decreasing order of prevalence. Overall, helminth or protozoa infection did not show any significant association with the study groups. However, when the species of the parasite was considered, individuals exposed to trichuriasis and toxoplasmosis showed significant odds reduction (odds ratio (OR) 0.338; 95% confidence interval (CI) 0.166, 0.688) and odds increment (OR 2.193; 95% CI 1.051, 4.576) to have active pulmonary TB, respectively. In conclusion, trichuriasis and toxoplasmosis may have distinct negative and positive associations respectively with the increase of host susceptibility to TB.
  15. Javed Iqbal M, Quispe C, Javed Z, Sadia H, Qadri QR, Raza S, et al.
    Front Mol Biosci, 2020;7:624494.
    PMID: 33521059 DOI: 10.3389/fmolb.2020.624494
    Cancer is a multifactorial disease characterized by complex molecular landscape and altered cell pathways that results in an abnormal cell growth. Natural compounds are target-specific and pose a limited cytotoxicity; therefore, can aid in the development of new therapeutic interventions for the treatment of this versatile disease. Berberine is a member of the protoberberine alkaloids family, mainly present in the root, stem, and bark of various trees, and has a reputed anticancer activity. Nonetheless, the limited bioavailability and low absorption rate are the two major hindrances following berberine administration as only 0.5% of ingested berberine absorbed in small intestine while this percentage is further decreased to 0.35%, when enter in systemic circulation. Nano-based formulation is believed to be an ideal candidate to increase absorption percentage as at nano scale level, compounds can absorb rapidly in gut. Nanotechnology-based therapeutic approaches have been implemented to overcome such problems, ultimately promoting a higher efficacy in the treatment of a plethora of diseases. This review present and critically discusses the anti-proliferative role of berberine and the nanotechnology-based therapeutic strategies used for the nano-scale delivery of berberine. Finally, the current approaches and promising perspectives of latest delivery of this alkaloid are also critically analyzed and discussed.
  16. Nazree NE, Mohamed Z, Reynolds GP, Mohd Zain S, Masiran R, Sidi H, et al.
    Asia Pac Psychiatry, 2016 Dec;8(4):260-268.
    PMID: 27787964 DOI: 10.1111/appy.12210
    INTRODUCTION: The occurrence of female sexual dysfunction (FSD) in patients with major depressive disorder (MDD) receiving selective serotonin reuptake inhibitors (SSRIs) treatment gives negative impacts on patients' quality of life and causes treatment discontinuation. We aimed to investigate whether genetic polymorphism of identified candidate gene is associated with FSD in our study population.

    METHODS: This is a cross-sectional study. A total of 95 female patients with MDD who met the criteria of the study were recruited and were specifically assessed on the sexual function by trained psychiatrists. Patients' DNA was genotyped for BDNF Val66Met polymorphism using real-time polymerase chain reaction.

    RESULTS: The prevalence of FSD in this study is 31.6%. In the FSD group, patients with problematic marriage were significantly more frequent compared with patients who did not have problematic marriage (P = 0.009). Significant association was detected in the lubrication domain with BDNF Val66Met polymorphism (P = 0.030) using additive genetic model, with even stronger association when using the recessive model (P = 0.013).

    DISCUSSION: This study suggested that there was no significant association between BDNF Val66Met with FSD. However, this polymorphism is significantly associated with lubrication disorder in patients treated with SSRIs.

  17. Ten LC, Chin YM, Tai MC, Chin EF, Lim YY, Suthandiram S, et al.
    Sci Rep, 2017 01 31;7:41400.
    PMID: 28139690 DOI: 10.1038/srep41400
    Large consortia efforts and genome-wide association studies (GWASs) have linked a number of genetic variants within the 6p21 chromosomal region to non-Hodgkin lymphoma (NHL). Complementing these efforts, we genotyped previously reported SNPs in the human leukocyte antigen (HLA) class I (rs6457327) and class II (rs9271100, rs2647012 and rs10484561) regions in a total of 1,145 subjects (567 NHL cases and 578 healthy controls) from two major ethnic groups in Malaysia, the Malays and the Chinese. We identified a NHL-associated (PNHL_add = 0.0008; ORNHL_add = 0.54; 95% CI = 0.37-0.77) and B-cell associated (PBcell_add = 0.0007; ORBcell_add = 0.51; 95% CI = 0.35-0.76) SNP rs2647012 in the Malaysian Malays. In silico cis-eQTL analysis of rs2647012 suggests potential regulatory function of nearby HLA class II molecules. Minor allele rs2647012-T is linked to higher expression of HLA-DQB1, rendering a protective effect to NHL risk. Our findings suggest that the HLA class II region plays an important role in NHL etiology.
  18. Snyder SR, Hao J, Cavallari LH, Geng Z, Elsey A, Johnson JA, et al.
    Public Health Genomics, 2018;21(5-6):217-227.
    PMID: 31189173 DOI: 10.1159/000500725
    BACKGROUND/AIMS: Economic evaluation is integral to informed public health decision-making in the rapidly growing field of precision and personalized medicine (PM); however, this research requires specialized expertise and significant resources. Generic models are a novel innovation to efficiently address a critical PM evidence shortage and implementation barrier by enabling use of population-specific input values. This is a generic PM economic evaluation model proof-of-concept study for a pharmacogenomic use case.

    METHODS: An 8-step generic economic model development process was applied to the use case of human leukocyte antigen (HLA)-B*15:02genotyping for prediction of carbamazepine-induced cutaneous reactions, with a user-friendly decision-making tool relying on user-provided input values. This generic model was transparently documented and validated, including cross-validation comparing cost-effectiveness results with 3 country-specific models.

    RESULTS: A generic pharmacogenomic use case cost-effectiveness model with decision-making tool was successfully developed and cross-validated using input values for 6 populations which produced consistent results for HLA-B*15:02 screening at country-specific cost-effectiveness threshold values. Differences between the generic and country-specific model results were largely due to differences in model structure and assumptions.

    CONCLUSION: This proof on concept demonstrates the feasibility of generic models to provide useful PM economic evidence, supporting their use as a pragmatic and timely approach to address a growing need.

  19. Pérez-Cuadrado Robles E, Lakhtakia S, Othman H, Tewethia HV, Yaacob N, Jarmin R, et al.
    Rev Esp Enferm Dig, 2022 Jan 11.
    PMID: 35012320 DOI: 10.17235/reed.2022.8451/2021
    Introduction Biodegradable stents of various designs are reportedly used in pancreato-biliary conditions with promising results. Their major advantage is the avoidance of a repeat endoscopic procedure for stent removal thereby reducing overall cost along with ERCP associated adverse events. To evaluate the feasibility and safety of a new biodegradable stent in patients with pancreato-biliary diseases. Methods Prospective multicenter pilot study. All consecutive patients 18 years-old who underwent biliary or pancreatic stenting using the new biodegradable Archimedes stent were included. There were three biodegradation profiles. Technical and clinical success, feasibility and safety were assessed during a pre-established follow-up schedule. Results Fifty-three patients (mean age: 48.54±19.29, 66% male) having biliary (n=29, 54.7%%) or pancreatic (n=24, 45.3%) indications were included. The distribution of stents used according to degradation properties were as follows: fast (n=11, 20.8%), medium (n=16, 30.2%) and slow (n=26, 49.1%). The technical and clinical success were 100% and 77.8%. Thirty-five patients were followed for a median of 26 weeks (range: 4-56, 66%). There were 9 procedure-related adverse events (17%), all mild, including one uneventful stent-related event (external migration). Conclusion The biodegradable Archimedes stent placement is feasible and safe in pancreato-biliary diseases.
  20. Mitropoulos K, Al Jaibeji H, Forero DA, Laissue P, Wonkam A, Lopez-Correa C, et al.
    Hum Genomics, 2015 Jun 18;9:11.
    PMID: 26081768 DOI: 10.1186/s40246-015-0033-3
    In recent years, the translation of genomic discoveries into mainstream medical practice and public health has gained momentum, facilitated by the advent of new technologies. However, there are often major discrepancies in the pace of implementation of genomic medicine between developed and developing/resource-limited countries. The main reason does not only lie in the limitation of resources but also in the slow pace of adoption of the new findings and the poor understanding of the potential that this new discipline offers to rationalize medical diagnosis and treatment. Here, we present and critically discuss examples from the successful implementation of genomic medicine in resource-limited countries, focusing on pharmacogenomics, genome informatics, and public health genomics, emphasizing in the latter case genomic education, stakeholder analysis, and economics in pharmacogenomics. These examples can be considered as model cases and be readily replicated for the wide implementation of pharmacogenomics and genomic medicine in other resource-limited environments.
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