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Case report: Paraganglioma masquerading as angiosarcoma: diagnostic-dilemma in vascular tumors

Rajoo AR, Kannairan S, Habeebullah Khan HA, Md Idris MA, Tan GC, Chandra Sakaran KR, et al.

Front Oncol, 2024;14:1462956.
PMID: 39703846 DOI: 10.3389/fonc.2024.1462956

Paragangliomas originating from blood vessels are exceptionally rare, presenting diagnostic challenges due to their histological resemblance to other vascular neoplasms. We present a case study of a 60-year-old woman with underlying hypertension and dyslipidemia with obesity, initially diagnosed with angiosarcoma based on imaging and histological characteristics viewed via CT-guided biopsy. Intraoperative exploration revealed a lobulated tumor located between the inferior vena cava (IVC) and aorta measuring 7 cm × 8 cm, during which the patient developed transient hemodynamic instabilities. Histopathological examination and immunohistochemical staining using neuroendocrine markers (chromogranin, synaptophysin, S-100 protein, and CD-56) later confirmed the tumor as a retroperitoneal paraganglioma. Retroperitoneal paraganglioma was initially misdiagnosed as angiosarcoma due to the overlapping imaging characteristics between the two tumors. This highlights the importance of raising suspicion on the possibility of retroperitoneal paraganglioma when imaging examination indicates angiosarcoma and to incorporate histopathological examination and immunohistochemistry in the diagnosis to avoid misdiagnosis.
Association of circulatory Tfh-like cells with neutralizing antibody responses among chronic HIV-1 subtype C infected long-term nonprogressors and progressors

Swathirajan CR, Nandagopal P, Vignesh R, Srikrishnan AK, Goyal R, Qureshi H, et al.

Pathog Dis, 2019 06 01;77(4).
PMID: 31505637 DOI: 10.1093/femspd/ftz044

HIV-1 vaccine functioning relies on successful induction of broadly neutralizing antibodies (bNAbs). CXCR3- circulatory T-follicular helper (cTfh) cells are necessary for inducing B-cells for generating bNAbs. Recent studies have suggested that CXCR3+ Tfh cells might also influence bNAb production. Plasma samples from 34 ART-Naïve HIV-1 infected individuals [long-term nonprogressors (LTNP)-19; Progressors-13] were tested against a heterologous virus panel (n = 11) from subtypes A, B, C, G, AC, BC and AE. Frequencies of CXCR3+ and CXCR3- cTfh-like cells in peripheral circulation were studied using flow cytometry. LTNP showed significantly lower CXCR3+ and higher CXCR3- cTfh-like cell frequencies, while neutralization breadth was observed to be broader in progressors. A positive correlation was observed between bNAb breadth and potency with CXCR3+PD-1+ cTfh-like cells in LTNP. Based on neutralization breadth, 9 HIV-1 infected individuals were classified as 'top neutralizers' and 23 as 'low neutralizers' and they did not show any correlations with CXCR3+ and CXCR3- cTfh-like cells. These preliminary data suggest that CXCR3+ similar to CXCR3- might possess significant functional properties for driving B-cells to produce bNAbs. Hence, an HIV vaccine which is capable of optimal induction of CXCR3+ cTfh cells at germinal centers might confer superior protection against HIV.
Fulltext Development of Cu3N electrocatalyst for hydrogen evolution reaction in alkaline medium

Sajeev A, Paul AM, Nivetha R, Gothandapani K, Gopal TS, Jacob G, et al.

Sci Rep, 2022 Feb 07;12(1):2004.
PMID: 35132114 DOI: 10.1038/s41598-022-05953-x

A wide variety of electrocatalysts has been evolved for hydrogen evolution reaction (HER) and it is reasonable to carry out HER with low cost electrocatalyst and a good efficiency. In this study, Cu3N was synthesized by nitridation of Cu2O and further utilized as an electrocatalyst towards HER. The developed Cu3N electrocatalyst was tested and results showed a low overpotential and moderate Tafel slope value (overpotential: 149.18 mV and Tafel slope 63.28 mV/dec at 10 mA/cm2) in alkaline medium with a charge transfer resistance value as calculated from electrochemical impendence spectroscopy being 1.44 Ω. Further from the experimental results, it was observed that the reaction kinetics was governed by Volmer-Heyrovsky mechanism. Moreover, Cu3N has shown an improved rate of electron transfer and enhanced accessible active sites, due to its structural properties and electrical conductivity. Thus the overall results show an excellent electrochemical performance, leading to a new pathway for the synthesis of low cost electrocatalyst for energy conversion and storage.
Fulltext Mining the Genome of Bacillus velezensis VB7 (CP047587) for MAMP Genes and Non-Ribosomal Peptide Synthetase Gene Clusters Conferring Antiviral and Antifungal Activity

R S, Nakkeeran S, Saranya N, Senthilraja C, Renukadevi P, Krishnamoorthy AS, et al.

Microorganisms, 2021 Dec 03;9(12).
PMID: 34946111 DOI: 10.3390/microorganisms9122511

Chemical pesticides have an immense role in curbing the infection of plant viruses and soil-borne pathogens of high valued crops. However, the usage of chemical pesticides also contributes to the development of resistance among pathogens. Hence, attempts were made in this study to identify a suitable bacterial antagonist for managing viral and fungal pathogens infecting crop plants. Based on our earlier investigations, we identified Bacillus amyloliquefaciens VB7 as a potential antagonist for managing Sclerotinia sclerotiorum infecting carnation, tobacco streak virus infecting cotton and groundnut bud necrosis infecting tomato. Considering the multifaceted action of B. amyloliquefaciens VB7, attempts were made for whole-genome sequencing to assess the antiviral activity against tomato spotted wilt virus infecting chrysanthemum and antifungal action against Fusarium oxysporum f. sp. cubense (Foc). Genome annotation of the isolate B. amyloliquefaciens VB7 was confirmed as B. velezensis VB7 with accession number CP047587. Genome analysis revealed the presence of 9,231,928 reads with an average read length of 149 bp. Assembled genome had 1 contig, with a total length of 3,021,183 bp and an average G+C content of 46.79%. The protein-coding sequences (CDS) in the genome was 3090, transfer RNA (tRNA) genes were 85 with 29 ribosomal RNA (rRNA) genes and 21 repeat regions. The genome of B. velezensis VB7 had 506 hypothetical proteins and 2584 proteins with functional assignments. VB7 genome had the presence of flagellin protein FlaA with 987 nucleotides and translation elongation factor TU (Ef-Tu) with 1191 nucleotides. The identified ORFs were 3911 with 47.22% GC content. Non ribosomal pepide synthetase cluster (NRPS) gene clusters in the genome of VB7, coded for the anti-microbial peptides surfactin, butirosin A/butirosin B, fengycin, difficidin, bacillibactin, bacilysin, and mersacidin the Ripp lanthipeptide. Antiviral action of VB7 was confirmed by suppression of local lesion formation of TSWV in the local lesion host cowpea (Co-7). Moreover, combined application of B. velezensis VB7 with phyto-antiviral principles M. Jalapa and H. cupanioides increased shoot length, shoot diameter, number of flower buds per plant, flower diameter, and fresh weight of chrysanthemum. Further, screening for antifungal action of VB7 expressed antifungal action against Foc in vitro by producing VOC/NVOC compounds, including hexadecanoic acid, linoelaidic acid, octadecanoic acid, clindamycin, formic acid, succinamide, furanone, 4H-pyran, nonanol and oleic acid, contributing to the total suppression of Foc apart from the presence of NRPS gene clusters. Thus, our study confirmed the scope for exploring B. velezensis VB7 on a commercial scale to manage tomato spotted wilt virus, groundnut bud necrosis virus, tobacco streak virus, S. sclerotiorum, and Foc causing panama wilt of banana.
Fulltext Nanomaterials in Alzheimer's disease treatment: a comprehensive review

Faiyaz M, Ganayee MA, Akhtar S, Krishnan S, Flora B, Dogra D, et al.

Front Biosci (Landmark Ed), 2021 10 30;26(10):851-865.
PMID: 34719210 DOI: 10.52586/4992

Alzheimer's, a progressive neurodegenerative disease affects brain and neurons through enormous reduction in nerve cell regenerative capacity. Dementia and impairment of cognitive functions are more prevalent in Alzheimer's disease (AD) patients in both industrialized and non-industrialized countries. Various factors play significant role in molecular cascades that leads to neuronal inflammation, dementia and thereby AD progression. Current medications are symptomatic that alleviates pain while lack in absolute cure, urging researchers to explore targets and therapeutics. Interestingly, nanomedicines developed due to the onset of nanotechnology, are being extensively investigated for the treatment of AD. This review presents the advancement in nanotherapeutic strategies, involving the emergence of nanomaterials that offers advantage to pass through the blood-brain barrier and acts as a therapeutic modality against AD.
A comprehensive review on zeolite-based mixed matrix membranes for CO2/CH4 separation

Hassan NS, Jalil AA, Bahari MB, Khusnun NF, Aldeen EMS, Mim RS, et al.

Chemosphere, 2023 Feb;314:137709.
PMID: 36592833 DOI: 10.1016/j.chemosphere.2022.137709

Biogas consisting of carbon dioxide/methane (CO2/CH4) gas mixtures has emerged as an alternative renewable fuel to natural gas. The presence of CO2 can decrease the calorific value and generate greenhouse gas. Hence, separating CO2 from CH4 is a vital step in enhancing the use of biogas. Zeolite and zeolite-based mixed matrix membrane (MMM) is considered an auspicious candidate for CO2/CH4 separation due to thermal and chemical stability. This review initially addresses the development of zeolite and zeolite-based MMM for the CO2/CH4 separation. The highest performance in terms of CO2 permeance and CO2/CH4 selectivity was achieved using zeolite and zeolite-based MMM, which exhibited CO2 permeance in the range of 2.0 × 10- 7-7.0 × 10- 6 mol m- 2 s- 1 Pa- 1 with CO2/CH4 selectivity ranging from 3 to 300. Current trends directed toward improving CO2/CH4 selectivity via modification methods including post-treatment, ion-exchanged, amino silane-grafted, and ionic liquid encapsulated of zeolite-based MMM. Those modification methods improved the defect-free and interfacial adhesions between zeolite particulates and polymer matrices and subsequently enhanced the CO2/CH4 selectivity. The modifications via ionic liquid and silane methods more influenced the CO2/CH4 selectivity with 90 and 660, respectively. This review also focuses on the possible applications of zeolite-based MMM, which include the purification and treatment of water as well as biomedical applications. Lastly, future advances and opportunities for gas separation applications are also briefly discussed. This review aims to share knowledge regarding zeolite-based MMM and inspire new industrial applications.
Vanadia as an electron-hole recombination inhibitor on fibrous silica-titania for selective hole oxidation of ciprofloxacin and Congo red photodegradation

Hassan NS, Jalil AA, Fei ICM, Razak MTA, Khusnun NF, Bahari MB, et al.

Chemosphere, 2023 Oct;338:139502.
PMID: 37453521 DOI: 10.1016/j.chemosphere.2023.139502

Vanadia (V2O5)-incorporated fibrous silica-titania (V/FST) catalysts, which were successfully synthesized using a hydrothermal method followed by the impregnation of V2O5. The catalysts were then characterized using numerous techniques, including X-ray diffraction, field emission scanning electron microscopy, transmission electron microscopy, nitrogen adsorption-desorption analyses, ultraviolet-visible diffuse reflectance spectroscopy, Fourier-transform infrared, X-ray photoelectron spectroscopy, and photoluminescence (PL) analyses. The study found that varying the amount of V2O5 (1-10 wt%) had a significant impact on the physicochemical properties of the FST, which in turn improved the photodegradation efficiency of two organic compounds, ciprofloxacin (CIP) and congo red (CR). 5V/FST demonstrated the best performance in degrading 10 mg L-1 of CIP (83%) and CR (100%) at pH 3 using 0.375 g L-1 catalyst under visible light irradiation within 180 min. The highest photoactivity of 5V/FST is mainly due to higher crystallinity and the highest number of V2O5-FST interactions. Furthermore, as demonstrated by PL analysis, the 5V/FST catalyst has the most significant impact on interfacial charge transfer and reduces electron-hole recombination. The photodegradation of both contaminants follows the Langmuir-Hinshelwood pseudo-first-order model, according to the kinetic study. The scavenger investigation demonstrated that hydroxyl radicals and holes dominated species in the system, indicating that the catalyst effectively generated reactive species for pollutant degradation. A possible mechanism was also identified for FST and 5V/FST. Interestingly, V2O5 acts as an electron-hole recombination inhibitor on FST for selective hole oxidation of ciprofloxacin and congo red photodegradation. Finally, the degradation efficiency of the catalyst remained relatively stable even after five cyclic experiments, indicating its potential for long-term use in environmental remediation.
Fulltext Changes in body pain among overweight and obese housewives living in Klang Valley, Malaysia: findings from the MyBFF@home study

Mohd Sallehuddin S, Mohamad Nor NS, Ambak R, Abdul Aziz NS, Mohd Zaki NA, Omar MA, et al.

BMC Womens Health, 2018 07 19;18(Suppl 1):101.
PMID: 30066647 DOI: 10.1186/s12905-018-0597-x

BACKGROUND: Obesity leads to the increase of pain at different parts of the body and it is a potential marker for complications of chronic diseases. This paper aims to assess changes in the body pain among overweight and obese housewives who participated in the My Body is Fit and Fabulous at home (MyBFF@home) study.
METHODS: Housewives aged 18 to 59 years old from the MyBFF@home study were selected and pain was measured using the Visual Analogue Scale (VAS) questionnaire. VAS measured the pain intensity at different parts of the body (score of 0-10). Data were collected at base line, 3 months and 6 months among the housewives in both the control and intervention group. Pain scores and other variables (age, Body Mass Index (BMI) and waist circumference) were analysed using SPSS version 22.
RESULTS: A total of 328 housewives completed the VAS questionnaires at baseline, while 185 (56.4%) of housewives completed the VAS at 3 months and 6 months. A decreasing trend of mean pain score in both groups after 6 months was observed. However, the intervention group showed a consistent decreasing trend of pain score mainly for back pain. In the control group, there was a slight increment of score in back pain from baseline towards the 6 months period. Older housewives in both groups (aged 50 years and above) had a higher mean score of leg pain (2.86, SD: 2.82) compared to the other age group. Higher BMI was significantly associated with pain score in both groups.
CONCLUSION: There were some changes in the level of body pain among the housewives before and after the intervention. Older obese women had a higher pain score compared to younger obese women. Pain was associated with BMI and change in BMI appears to be beneficial in reducing body pain among overweight and obese individuals.
A quadruplet 3-D laser scribed graphene/MoS2, functionalised N2-doped graphene quantum dots and lignin-based Ag-nanoparticles for biosensing

Vasudevan M, Perumal V, Raja PB, Ibrahim MNM, Lee HL, Gopinath SCB, et al.

Int J Biol Macromol, 2023 Dec 31;253(Pt 2):126620.
PMID: 37683754 DOI: 10.1016/j.ijbiomac.2023.126620

Troponin I is a protein released into the human blood circulation and a commonly used biomarker due to its sensitivity and specificity in diagnosing myocardial injury. When heart injury occurs, elevated troponin Troponin I levels are released into the bloodstream. The biomarker is a strong and reliable indicator of myocardial injury in a person, with immediate treatment required. For electrochemical sensing of Troponin I, a quadruplet 3D laser-scribed graphene/molybdenum disulphide functionalised N2-doped graphene quantum dots hybrid with lignin-based Ag-nanoparticles (3D LSG/MoS2/N-GQDs/L-Ag NPs) was fabricated using a hydrothermal process as an enhanced quadruplet substrate. Hybrid MoS2 nanoflower (H3 NF) and nanosphere (H3 NS) were formed independently by varying MoS2 precursors and were grown on 3D LSG uniformly without severe stacking and restacking issues, and characterized by morphological, physical, and structural analyses with the N-GQDs and Ag NPs evenly distributed on 3D LSG/MoS2 surface by covalent bonding. The selective capture of and specific interaction with Troponin I by the biotinylated aptamer probe on the bio-electrode, resulted in an increment in the charge transfer resistance. The limit of detection, based on impedance spectroscopy, is 100 aM for both H3 NF and H3 NS hybrids, with the H3 NF hybrid biosensor having better analytical performance in terms of linearity, selectivity, repeatability, and stability.
Extra-modification of zirconium dioxide for potential photocatalytic applications towards environmental remediation: A critical review

Hassan NS, Jalil AA, Khusnun NF, Bahari MB, Hussain I, Firmansyah ML, et al.

J Environ Manage, 2023 Feb 01;327:116869.
PMID: 36455446 DOI: 10.1016/j.jenvman.2022.116869

Photocatalytic degradation is a valuable direction for eliminating organic pollutants in the environment because of its exceptional catalytic activity and low energy requirements. As one of the prospective photocatalysts, zirconium dioxide (ZrO2) is a promising candidate for photoactivity due to its favorable redox potential and higher chemical stability. ZrO2 has a high rate of electron-hole recombination and poor light-harvesting capabilities. Still, modification has demonstrated enhancements, especially extra-modification, and is therefore worthy of investigation. This present review provides a comprehensive overview of the extra-modifications of ZrO2 for enhanced photocatalytic performance, including coupling with other semiconductors, doping with metal, non-metal, and co-doping with metal and non-metal. The extra-modified ZrO2 showed superior performance in degrading the organic pollutant, particularly dyes and phenolic compounds. Interestingly, this review also briefly highlighted the probable mechanisms of the extra-modification of ZrO2 such as p-n heterojunction, type II heterojunction, and Z-scheme heterojunction. The latter heterojunction with excellent electron-hole space separation improved the photoactivity. Extensive research on ZrO2's photocatalytic potential is presented, including the removal of heavy metals, the redox of heavy metals and organic pollutants, and the evolution of hydrogen. Modified ZrO2's photocatalytic effectiveness depends on its band position, oxygen vacancy concentration, and metal defect sites. The opportunities and future problems of the extra-modified ZrO2 photocatalyst are also discussed. This review aims to share knowledge regarding extra-modified ZrO2 photocatalysts and inspire new environmental remediation applications.
Fulltext From darkness, a light shall spring: Zero-fluoroscopic ablation of supraventricular tachycardia in a pregnant lady

Mohd Said MR, Gian Singh SS, Lee KT, Khor LM, Chea CY, Silveraju AR, et al.

J Arrhythm, 2021 Feb;37(1):251-253.
PMID: 33664912 DOI: 10.1002/joa3.12485

Our case illustrated zero-fluoroscopic approach on AVNRT ablation in a pregnant lady.
Protein and peptide delivery to lungs by using advanced targeted drug delivery

Chellappan DK, Prasher P, Saravanan V, Vern Yee VS, Wen Chi WC, Wong JW, et al.

Chem Biol Interact, 2022 Jan 05;351:109706.
PMID: 34662570 DOI: 10.1016/j.cbi.2021.109706

The challenges and difficulties associated with conventional drug delivery systems have led to the emergence of novel, advanced targeted drug delivery systems. Therapeutic drug delivery of proteins and peptides to the lungs is complicated owing to the large size and polar characteristics of the latter. Nevertheless, the pulmonary route has attracted great interest today among formulation scientists, as it has evolved into one of the important targeted drug delivery platforms for the delivery of peptides, and related compounds effectively to the lungs, primarily for the management and treatment of chronic lung diseases. In this review, we have discussed and summarized the current scenario and recent developments in targeted delivery of proteins and peptide-based drugs to the lungs. Moreover, we have also highlighted the advantages of pulmonary drug delivery over conventional drug delivery approaches for peptide-based drugs, in terms of efficacy, retention time and other important pharmacokinetic parameters. The review also highlights the future perspectives and the impact of targeted drug delivery on peptide-based drugs in the coming decade.
Genomic surveillance of omicron B.1.1.529 SARS-CoV-2 and its variants between December 2021 and March 2023 in Tamil Nadu, India-A state-wide prospective longitudinal study

Selvavinayagam ST, Suvaithenamudhan S, Yong YK, Hemashree K, Rajeshkumar M, Kumaresan A, et al.

J Med Virol, 2024 Feb;96(2):e29456.
PMID: 38329187 DOI: 10.1002/jmv.29456

A state-wide prospective longitudinal investigation of the genomic surveillance of the omicron B.1.1.529 SARS-CoV-2 variant and its sublineages in Tamil Nadu, India, was conducted between December 2021 and March 2023. The study aimed to elucidate their mutational patterns and their genetic interrelationship in the Indian population. The study identified several unique mutations at different time-points, which likely could attribute to the changing disease characteristics, transmission, and pathogenicity attributes of omicron variants. The study found that the omicron variant is highly competent in its mutating potentials, and that it continues to evolve in the general population, likely escaping from natural as well as vaccine-induced immune responses. Our findings suggest that continuous surveillance of viral variants at the global scenario is warranted to undertake intervention measures against potentially precarious SARS-CoV-2 variants and their evolution.
Fulltext Emergence of SARS-CoV-2 omicron variant JN.1 in Tamil Nadu, India - Clinical characteristics and novel mutations

Selvavinayagam ST, Sankar S, Yong YK, Murugesan A, Suvaithenamudhan S, Hemashree K, et al.

Sci Rep, 2024 Jul 30;14(1):17476.
PMID: 39080396 DOI: 10.1038/s41598-024-68678-z

In December 2023, we observed a notable shift in the COVID-19 landscape, when JN.1 omicron emerged as the predominant SARS-CoV-2 variant with a 95% incidence. We characterized the clinical profile, and genetic changes in JN.1, an emerging SARS-CoV-2 variant of interest. Whole genome sequencing was performed on SARS-CoV-2 positive clinical specimens, followed by sequence analysis. Mutations within the spike protein sequences were analysed and compared with the previously reported lineages and sub-lineages, to identify the potential impact of the unique mutations on protein structure and possible alterations in the functionality. Several unique and dynamic mutations were identified herein. Molecular docking analysis showed changes in the binding affinity, and key interacting residues of wild-type and mutated structures with key host cell receptors of SARS-CoV-2 entry viz., ACE2, CD147, CD209L and AXL. Our data provides key insights on the emergence of newer variants and highlights the necessity for robust and sustained global genomic surveillance of SARS-CoV-2.
Fulltext 2021 Asia Pacific Heart Rhythm Society (APHRS) practice guidance on atrial fibrillation screening

Chan NY, Orchard J, Agbayani MJ, Boddington D, Chao TF, Johar S, et al.

J Arrhythm, 2022 Feb;38(1):31-49.
PMID: 35222749 DOI: 10.1002/joa3.12669

In this paper, the Asia Pacific Heart Rhythm Society (APHRS) sought to provide practice guidance on AF screening based on recent evidence, with specific considerations relevant to the Asia-Pacific region. A key recommendation is opportunistic screening for people aged ≥65 years (all countries), with systematic screening to be considered for people aged ≥75 years or who have additional risk factors (all countries).
Fulltext Emergence of SARS-CoV-2 Omicron Variant JN.1 in Tamil Nadu, India - Clinical Characteristics and Novel Mutations

Selvavinayagam ST, Sankar S, Yong YK, Murugesan A, Suvaithenamudhan S, Hemashree K, et al.

medRxiv, 2024 Apr 19.
PMID: 38699322 DOI: 10.1101/2024.04.16.24305882

In December 2023, we observed a notable shift in the COVID-19 landscape, when the JN.1 emerged as a predominant SARS-CoV-2 variant with a 95% incidence. We characterized the clinical profile, and genetic changes in JN.1, an emerging SARS-CoV-2 variant of interest. Whole genome sequencing was performed on SARS-CoV-2 positive samples, followed by sequence analysis. Mutations within the spike protein sequences were analyzed and compared with the previous lineages and sublineages of SARS-CoV-2, to identify the potential impact of these unique mutations on protein structure and possible functionality. Several unique and dynamic mutations were identified herein. Our data provides key insights into the emergence of newer variants of SARS-CoV-2 in our region and highlights the need for robust and sustained genomic surveillance of SARS-CoV-2.
Fulltext Investigating Genetic and Other Determinants of First-Onset Myocardial Infarction in Malaysia: Protocol for the Malaysian Acute Vascular Events Risk Study

Chowdhury R, Noh MFM, Ismail SR, van Daalen KR, Kamaruddin PSNM, Zulkiply SH, et al.

JMIR Res Protoc, 2022 Feb 10;11(2):e31885.
PMID: 35142634 DOI: 10.2196/31885

BACKGROUND: Although the burden of premature myocardial infarction (MI) is high in Malaysia, direct evidence on the determinants of MI in this multi-ethnic population remains sparse.
OBJECTIVE: The Malaysian Acute Vascular Events Risk (MAVERIK) study is a retrospective case-control study established to investigate the genomic, lipid-related, and other determinants of acute MI in Malaysia. In this paper, we report the study protocol and early results.
METHODS: By June 2019, we had enrolled approximately 2500 patients with their first MI and 2500 controls without cardiovascular disease, who were frequency-matched by age, sex, and ethnicity, from 17 hospitals in Malaysia. For each participant, serum and whole blood have been collected and stored. Clinical, demographic, and behavioral information has been obtained using a 200-item questionnaire.
RESULTS: Tobacco consumption, a history of diabetes, hypertension, markers of visceral adiposity, indicators of lower socioeconomic status, and a family history of coronary disease were more prevalent in cases than in controls. Adjusted (age and sex) logistic regression models for traditional risk factors indicated that current smoking (odds ratio [OR] 4.11, 95% CI 3.56-4.75; P30 kg/m2; OR 1.19, 95% CI 1.05-1.34; P=.009) were associated with MI in age- and sex-adjusted models.
CONCLUSIONS: The MAVERIK study can serve as a useful platform to investigate genetic and other risk factors for MI in an understudied Southeast Asian population. It should help to hasten the discovery of disease-causing pathways and inform regionally appropriate strategies that optimize public health action.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR1-10.2196/31885.
Fulltext A common variant near TGFBR3 is associated with primary open angle glaucoma

Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, et al.

Hum Mol Genet, 2015 Jul 01;24(13):3880-92.
PMID: 25861811 DOI: 10.1093/hmg/ddv128

Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10(-33)), we observed one SNP showing significant association to POAG (CDC7-TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10(-8)). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Khor CC, Do T, Jia H, Nakano M, George R, Abu-Amero K, et al.

Nat Genet, 2016 May;48(5):556-62.
PMID: 27064256 DOI: 10.1038/ng.3540

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.

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