Displaying publications 1 - 20 of 52 in total

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  1. X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation
    Susanto TAK, Bhattacharyya R
    J Pediatr Hematol Oncol, 2017 Jul;39(5):408-409.
    PMID: 28644307 DOI: 10.1097/MPH.0000000000000814
    Dimorphism in peripheral blood film was noted in a 16 year old Malay boy with anemia who was eventually diagnosed with X-linked sideroblastic anemia. A mutation in ALAS2 S568G was identified which has not been described previously in a Malay ethnic group.
  2. Fulltext Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility
    Earp M, Tyrer JP, Winham SJ, Lin HY, Chornokur G, Dennis J, et al.
    PLoS One, 2018;13(7):e0197561.
    PMID: 29979793 DOI: 10.1371/journal.pone.0197561
    Epithelial ovarian cancer (EOC) is the fifth leading cause of cancer mortality in American women. Normal ovarian physiology is intricately connected to small GTP binding proteins of the Ras superfamily (Ras, Rho, Rab, Arf, and Ran) which govern processes such as signal transduction, cell proliferation, cell motility, and vesicle transport. We hypothesized that common germline variation in genes encoding small GTPases is associated with EOC risk. We investigated 322 variants in 88 small GTPase genes in germline DNA of 18,736 EOC patients and 26,138 controls of European ancestry using a custom genotype array and logistic regression fitting log-additive models. Functional annotation was used to identify biofeatures and expression quantitative trait loci that intersect with risk variants. One variant, ARHGEF10L (Rho guanine nucleotide exchange factor 10 like) rs2256787, was associated with increased endometrioid EOC risk (OR = 1.33, p = 4.46 x 10-6). Other variants of interest included another in ARHGEF10L, rs10788679, which was associated with invasive serous EOC risk (OR = 1.07, p = 0.00026) and two variants in AKAP6 (A-kinase anchoring protein 6) which were associated with risk of invasive EOC (rs1955513, OR = 0.90, p = 0.00033; rs927062, OR = 0.94, p = 0.00059). Functional annotation revealed that the two ARHGEF10L variants were located in super-enhancer regions and that AKAP6 rs927062 was associated with expression of GTPase gene ARHGAP5 (Rho GTPase activating protein 5). Inherited variants in ARHGEF10L and AKAP6, with potential transcriptional regulatory function and association with EOC risk, warrant investigation in independent EOC study populations.
  3. Fulltext Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
    Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, et al.
    Nat Genet, 2021 Jan;53(1):65-75.
    PMID: 33398198 DOI: 10.1038/s41588-020-00748-0
    Prostate cancer is a highly heritable disease with large disparities in incidence rates across ancestry populations. We conducted a multiancestry meta-analysis of prostate cancer genome-wide association studies (107,247 cases and 127,006 controls) and identified 86 new genetic risk variants independently associated with prostate cancer risk, bringing the total to 269 known risk variants. The top genetic risk score (GRS) decile was associated with odds ratios that ranged from 5.06 (95% confidence interval (CI), 4.84-5.29) for men of European ancestry to 3.74 (95% CI, 3.36-4.17) for men of African ancestry. Men of African ancestry were estimated to have a mean GRS that was 2.18-times higher (95% CI, 2.14-2.22), and men of East Asian ancestry 0.73-times lower (95% CI, 0.71-0.76), than men of European ancestry. These findings support the role of germline variation contributing to population differences in prostate cancer risk, with the GRS offering an approach for personalized risk prediction.
  4. Fulltext The emergence of sex differences in personality traits in early adolescence: A cross-sectional, cross-cultural study
    De Bolle M, De Fruyt F, McCrae RR, Löckenhoff CE, Costa PT, Aguilar-Vafaie ME, et al.
    J Pers Soc Psychol, 2015 Jan;108(1):171-185.
    PMID: 25603371 DOI: 10.1037/a0038497
    Although large international studies have found consistent patterns of sex differences in personality traits among adults (i.e., women scoring higher on most facets), less is known about cross-cultural sex differences in adolescent personality and the role of culture and age in shaping them. The present study examines the NEO Personality Inventory-3 (McCrae, Costa, & Martin, 2005) informant ratings of adolescents from 23 cultures (N = 4,850), and investigates culture and age as sources of variability in sex differences of adolescents' personality. The effect for Neuroticism (with females scoring higher than males) begins to take on its adult form around age 14. Girls score higher on Openness to Experience and Conscientiousness at all ages between 12 and 17 years. A more complex pattern emerges for Extraversion and Agreeableness, although by age 17, sex differences for these traits are highly similar to those observed in adulthood. Cross-sectional data suggest that (a) with advancing age, sex differences found in adolescents increasingly converge toward adult patterns with respect to both direction and magnitude; (b) girls display sex-typed personality traits at an earlier age than boys; and (c) the emergence of sex differences was similar across cultures. Practical implications of the present findings are discussed. (PsycINFO Database Record (c) 2015 APA, all rights reserved).
  5. The Trans-Pacific Partnership Agreement: challenges for Australian health and medicine policies
    Faunce TA, Townsend R
    Med J Aust, 2011 Jan 17;194(2):83-6.
    PMID: 21241222
    Four formal rounds of Trans-Pacific Partnership Agreement (TPPA) negotiations took place in 2010. They involved over 200 officials from Australia, the United States, New Zealand, Chile, Singapore, Brunei, Peru, Vietnam and Malaysia. Future negotiations officially are set to include three issues with public health and medicines policy implications for Australia and our region: ways to approach regulatory coherence and transparency; how to benefit multinational and small-medium enterprises; and multilateral investor-state dispute settlement. US-based multinational pharmaceutical companies are lobbying for TPPA provisions like those in the Australia-US Free Trade Agreement, which reduce government cost-effectiveness regulatory control of pharmaceuticals, threatening equitable access to medicines. They also advocate increased TPPA intellectual monopoly privilege protection, which will further limit the development of Australian generic medicine enterprises and restrict patient access to cheap, bioequivalent prescription drugs. Of particular concern is that proposed TPPA multilateral investor-state dispute settlement procedures would allow US corporations (as well as those of other TPPA nations) to obtain damages against Australian governments through international arbitral proceedings if their investments are impeded by Australian public health and environment protection legislation.
  6. The Significance of Tinospora crispa in Treatment of Diabetes Mellitus
    Thomas A, Rajesh EK, Kumar DS
    Phytother Res, 2016 Mar;30(3):357-66.
    PMID: 26749336 DOI: 10.1002/ptr.5559
    Tinospora crispa is a medicinal plant belonging to the botanical family Menispermiaceae. The plant is widely distributed in Southeast Asia and the northeastern region of India. A related species Tinospora cordifolia is used in Ayurveda for treating a large spectrum of diseases. Traditional healers of Thailand, Malaysia, Guyana, Bangladesh and the southern Indian province of Kerala use this plant in the treatment of diabetes. Many diterpenes, triterpenes, phytosteroids, alkaloids and their glycosides have been isolated from T. crispa. Cell culture and animal studies suggest that the herb stimulates secretion of insulin from β-cells. It also causes dose-dependent and time-dependent enhancement of glucose uptake in muscles. However, in view of the reported hepatotoxicity, this herb may be used with caution. This article reviews the animal studies and human clinical trials carried out using this herb. Areas of future research are also identified.
  7. Fulltext The Increasing Use of Interesterified Lipids in the Food Supply and Their Effects on Health Parameters
    Mensink RP, Sanders TA, Baer DJ, Hayes KC, Howles PN, Marangoni A
    Adv Nutr, 2016 Jul;7(4):719-29.
    PMID: 27422506 DOI: 10.3945/an.115.009662
    A variety of modified fats that provide different functionalities are used in processed foods to optimize product characteristics and nutrient composition. Partial hydrogenation results in the formation of trans FAs (TFAs) and was one of the most widely used modification processes of fats and oils. However, the negative effects of commercially produced TFAs on serum lipoproteins and risk for cardiovascular disease resulted in the Institute of Medicine and the 2010 US Dietary Guidelines for Americans both recommending that TFA intake be as low as possible. After its tentative 2013 determination that use of partially hydrogenated oils is not generally regarded as safe, the FDA released its final determination of the same in 2015. Many food technologists have turned to interesterified fat as a replacement. Interesterification rearranges FAs within and between a triglyceride molecule by use of either a chemical catalyst or an enzyme. Although there is clear utility of interesterified fats for retaining functional properties of food, the nutrition and health implications of long-term interesterified fat consumption are less well understood. The Technical Committee on Dietary Lipids of the North American Branch of the International Life Sciences Institute sponsored a workshop to discuss the health effects of interesterified fats, identify research needs, and outline considerations for the design of future studies. The consensus was that although interesterified fat production is a feasible and economically viable solution for replacing dietary TFAs, outstanding questions must be answered regarding the effects of interesterification on modifying certain aspects of lipid and glucose metabolism, inflammatory responses, hemostatic parameters, and satiety.
  8. Fulltext The Association of Estrogen Receptor-β Gene Variation With Salt-Sensitive Blood Pressure
    Manosroi W, Tan JW, Rariy CM, Sun B, Goodarzi MO, Saxena AR, et al.
    J Clin Endocrinol Metab, 2017 11 01;102(11):4124-4135.
    PMID: 28938457 DOI: 10.1210/jc.2017-00957
    Context: Hypertension in young women is uncommon compared with young men and older women. Estrogen appears to protect most women against hypertension, with incidence increasing after menopause. Because some premenopausal women develop hypertension, estrogen may play a different role in these women. Genetic variations in the estrogen receptor (ER) are associated with cardiovascular disease. ER-β, encoded by ESR2, is the ER predominantly expressed in vascular smooth muscle.

    Objective: To determine an association of single nucleotide polymorphisms in ESR2 with salt sensitivity of blood pressure (SSBP) and estrogen status in women.

    Methods: Candidate gene association study with ESR2 and SSBP conducted in normotensive and hypertensive women and men in two cohorts: International Hypertensive Pathotype (HyperPATH) (n = 584) (discovery) and Mexican American Hypertension-Insulin Resistance Study (n = 662) (validation). Single nucleotide polymorphisms in ESR1 (ER-α) were also analyzed. Analysis conducted in younger (<51 years, premenopausal, "estrogen-replete") and older women (≥51 years, postmenopausal, "estrogen-deplete"). Men were analyzed to control for aging.

    Results: Multivariate analyses of HyperPATH data between variants of ESR2 and SSBP documented that ESR2 rs10144225 minor (risk) allele carriers had a significantly positive association with SSBP driven by estrogen-replete women (β = +4.4 mm Hg per risk allele, P = 0.004). Findings were confirmed in Hypertension Insulin-Resistance Study premenopausal women. HyperPATH cohort analyses revealed risk allele carriers vs noncarriers had increased aldosterone/renin ratios. No associations were detected with ESR1.

    Conclusions: The variation at rs10144225 in ESR2 was associated with SSBP in premenopausal women (estrogen-replete) and not in men or postmenopausal women (estrogen-deplete). Inappropriate aldosterone levels on a liberal salt diet may mediate the SSBP.

  9. Fulltext Stereotypes of age differences in personality traits: universal and accurate?
    Chan W, Mccrae RR, De Fruyt F, Jussim L, Löckenhoff CE, De Bolle M, et al.
    J Pers Soc Psychol, 2012 Dec;103(6):1050-1066.
    PMID: 23088227 DOI: 10.1037/a0029712
    Age trajectories for personality traits are known to be similar across cultures. To address whether stereotypes of age groups reflect these age-related changes in personality, we asked participants in 26 countries (N = 3,323) to rate typical adolescents, adults, and old persons in their own country. Raters across nations tended to share similar beliefs about different age groups; adolescents were seen as impulsive, rebellious, undisciplined, preferring excitement and novelty, whereas old people were consistently considered lower on impulsivity, activity, antagonism, and Openness. These consensual age group stereotypes correlated strongly with published age differences on the five major dimensions of personality and most of 30 specific traits, using as criteria of accuracy both self-reports and observer ratings, different survey methodologies, and data from up to 50 nations. However, personal stereotypes were considerably less accurate, and consensual stereotypes tended to exaggerate differences across age groups.
  10. Role of Composite Glycemic Indices: A Comparison of the Comprehensive Glucose Pentagon Across Diabetes Types and HbA1c Levels
    Rama Chandran S, A Vigersky R, Thomas A, Lim LL, Ratnasingam J, Tan A, et al.
    Diabetes Technol Ther, 2020 02;22(2):103-111.
    PMID: 31502876 DOI: 10.1089/dia.2019.0277
    Background:
    Complex changes of glycemia that occur in diabetes are not fully captured by any single measure. The Comprehensive Glucose Pentagon (CGP) measures multiple aspects of glycemia to generate the prognostic glycemic risk (PGR), which constitutes the relative risk of hypoglycemia combined with long-term complications. We compare the components of CGP and PGR across type 1 and type 2 diabetes.
    Methods:
    Participants: n = 60 type 1 and n = 100 type 2 who underwent continuous glucose monitoring (CGM). Mean glucose, coefficient of variation (%CV), intensity of hypoglycemia (INThypo), intensity of hyperglycemia (INThyper), time out-of-range (TOR <3.9 and >10 mmol/L), and PGR were calculated. PGR (median, interquartile ranges [IQR]) for diabetes types, and HbA1c classes were compared.
    Results:
    While HbA1c was lower in type 1 (type 1 vs. type 2: 8.0 ± 1.6 vs. 8.6 ± 1.7, P = 0.02), CGM-derived mean glucoses were similar across both groups (P > 0.05). TOR, %CV, INThypo, and INThyper were all higher in type 1 [type 1 vs. type 2: 665 (500, 863) vs. 535 (284, 823) min/day; 39% (33, 46) vs. 29% (24, 34); 905 (205, 2951) vs. 18 (0, 349) mg/dL × min2; 42,906 (23,482, 82,120) vs. 30,166 (10,276, 57,183) mg/dL × min2, respectively, all P 
  11. Publisher Correction: Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction
    Conti DV, Darst BF, Moss LC, Saunders EJ, Sheng X, Chou A, et al.
    Nat Genet, 2021 Mar;53(3):413.
    PMID: 33473200 DOI: 10.1038/s41588-021-00786-2
  12. Processing and analysis of chitosan nanocomposites reinforced with chitin whiskers and tannic acid as a crosslinker
    Rubentheren V, Ward TA, Chee CY, Tang CK
    Carbohydr Polym, 2015 Jan 22;115:379-87.
    PMID: 25439908 DOI: 10.1016/j.carbpol.2014.09.007
    Chitosan film reinforced with nano-sized chitin whiskers and crosslinked using tannic acid was synthesized by the casting-vaporation method. The mechanical and physicochemical properties of several film samples (consisting of different ratio of chitin and tannic acid) were compared with neat chitosan. Tensile tests show that the addition of chitin improves the nanocomposite films mechanical properties up to 137% compared to neat chitosan, but this is slightly degraded when tannic acid is introduced. However, tannic acid and chitin whisker content greatly reduced moisture content by 294% and water solubility by 13%. Transmission electron microscopy (TEM) and Fourier-transform-infrared spectroscopy (FTIR) were used to investigate the morphology and molecular interaction of film. X-ray diffraction results indicated that the samples with chitin whiskers had a more rigid structure. The addition of tannic acid changed the structure into an anhydrous crystalline conformation when compared to neat chitosan film.
  13. Fulltext Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
    Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, et al.
    J Clin Oncol, 2017 Jul 10;35(20):2240-2250.
    PMID: 28448241 DOI: 10.1200/JCO.2016.69.4935
    Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights. Results In male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 × 10-6). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 × 10-9). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively. Conclusion PRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.
  14. Polygenic risk modeling for prediction of epithelial ovarian cancer risk
    Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, et al.
    Eur J Hum Genet, 2022 Jan 14.
    PMID: 35027648 DOI: 10.1038/s41431-021-00987-7
    Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, "select and shrink for summary statistics" (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28-1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08-1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21-1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29-1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35-1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.
  15. Photoactive imaging and therapy for colorectal cancer using a CEA-Affimer conjugated Foslip nanoparticle
    Khaled YS, Khot MI, Aiyappa-Maudsley R, Maisey T, Pramanik A, Tiernan J, et al.
    Nanoscale, 2024 Apr 04;16(14):7185-7199.
    PMID: 38506227 DOI: 10.1039/d3nr04118b
    Theranostic nanoparticles hold promise for simultaneous imaging and therapy in colorectal cancer. Carcinoembryonic antigen can be used as a target for these nanoparticles because it is overexpressed in most colorectal cancers. Affimer reagents are synthetic proteins capable of binding specific targets, with additional advantages over antibodies for targeting. We fabricated silica nanoparticles using a water-in-oil microemulsion technique, loaded them with the photosensitiser Foslip, and functionalised the surface with anti-CEA Affimers to facilitate fluorescence imaging and photodynamic therapy of colorectal cancer. CEA-specific fluorescence imaging and phototoxicity were quantified in colorectal cancer cell lines and a LS174T murine xenograft colorectal cancer model. Anti-CEA targeted nanoparticles exhibited CEA-specific fluorescence in the LoVo, LS174T and HCT116 cell lines when compared to control particles (p < 0.0001). No toxicity was observed in LS174T cancer mouse xenografts or other organs. Following photo-irradiation, the anti-CEA targeted particles caused significant cell death in LoVo (60%), LS174T (90%) and HCT116 (70%) compared to controls (p < 0.0001). Photodynamic therapy (PDT) at 24 h in vivo showed a 4-fold reduction in tumour volume compared to control mouse xenografts (p < 0.0001). This study demonstrates the efficacy of targeted fluorescence imaging and PDT using Foslip nanoparticles conjugated to anti-CEA Affimer nanoparticles in in vitro and in vivo colorectal cancer models.
  16. Fulltext Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk
    Kar SP, Tyrer JP, Li Q, Lawrenson K, Aben KK, Anton-Culver H, et al.
    Cancer Epidemiol Biomarkers Prev, 2015 Oct;24(10):1574-84.
    PMID: 26209509 DOI: 10.1158/1055-9965.EPI-14-1270
    BACKGROUND: Genome-wide association studies (GWAS) have so far reported 12 loci associated with serous epithelial ovarian cancer (EOC) risk. We hypothesized that some of these loci function through nearby transcription factor (TF) genes and that putative target genes of these TFs as identified by coexpression may also be enriched for additional EOC risk associations.

    METHODS: We selected TF genes within 1 Mb of the top signal at the 12 genome-wide significant risk loci. Mutual information, a form of correlation, was used to build networks of genes strongly coexpressed with each selected TF gene in the unified microarray dataset of 489 serous EOC tumors from The Cancer Genome Atlas. Genes represented in this dataset were subsequently ranked using a gene-level test based on results for germline SNPs from a serous EOC GWAS meta-analysis (2,196 cases/4,396 controls).

    RESULTS: Gene set enrichment analysis identified six networks centered on TF genes (HOXB2, HOXB5, HOXB6, HOXB7 at 17q21.32 and HOXD1, HOXD3 at 2q31) that were significantly enriched for genes from the risk-associated end of the ranked list (P < 0.05 and FDR < 0.05). These results were replicated (P < 0.05) using an independent association study (7,035 cases/21,693 controls). Genes underlying enrichment in the six networks were pooled into a combined network.

    CONCLUSION: We identified a HOX-centric network associated with serous EOC risk containing several genes with known or emerging roles in serous EOC development.

    IMPACT: Network analysis integrating large, context-specific datasets has the potential to offer mechanistic insights into cancer susceptibility and prioritize genes for experimental characterization.

  17. Fulltext Myocardial Viability Imaging using Manganese-Enhanced MRI in the First Hours after Myocardial Infarction
    Jasmin NH, Thin MZ, Johnson RD, Jackson LH, Roberts TA, David AL, et al.
    Adv Sci (Weinh), 2021 Jun;8(11):e2003987.
    PMID: 34105284 DOI: 10.1002/advs.202003987
    Early measurements of tissue viability after myocardial infarction (MI) are essential for accurate diagnosis and treatment planning but are challenging to obtain. Here, manganese, a calcium analogue and clinically approved magnetic resonance imaging (MRI) contrast agent, is used as an imaging biomarker of myocardial viability in the first hours after experimental MI. Safe Mn2+ dosing is confirmed by measuring in vitro beating rates, calcium transients, and action potentials in cardiomyocytes, and in vivo heart rates and cardiac contractility in mice. Quantitative T1 mapping-manganese-enhanced MRI (MEMRI) reveals elevated and increasing Mn2+ uptake in viable myocardium remote from the infarct, suggesting MEMRI offers a quantitative biomarker of cardiac inotropy. MEMRI evaluation of infarct size at 1 h, 1 and 14 days after MI quantifies myocardial viability earlier than the current gold-standard technique, late-gadolinium-enhanced MRI. These data, coupled with the re-emergence of clinical Mn2+ -based contrast agents open the possibility of using MEMRI for direct evaluation of myocardial viability early after ischemic onset in patients.
  18. Fulltext Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
    Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, et al.
    Hum Mutat, 2018 05;39(5):593-620.
    PMID: 29446198 DOI: 10.1002/humu.23406
    The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
  19. Losartan reduces the costs of diabetic end-stage renal disease: an Asian perspective
    Seng WK, Hwang SJ, Han DC, Teong CC, Chan J, Burke TA, et al.
    Nephrology (Carlton), 2005 Oct;10(5):520-4.
    PMID: 16221106
    To evaluate losartan and conventional antihypertensive therapy (CT) compared with CT alone on the cost associated with end-stage renal disease (ESRD) in Hong Kong, Japan, Korea, Malaysia, Singapore and Taiwan.
  20. Knowledge and Attitudes Towards Pregnancy in Females with Inflammatory Bowel Disease: An International, Multi-centre Study
    Laube R, Yau Y, Selinger CP, Seow CH, Thomas A, Wei Chuah S, et al.
    J Crohns Colitis, 2020 Sep 16;14(9):1248-1255.
    PMID: 32191292 DOI: 10.1093/ecco-jcc/jjaa047
    BACKGROUND AND AIMS: Poor knowledge of inflammatory bowel disease [IBD] in pregnancy underlies unwarranted voluntary childlessness [VC], and risks poorer obstetric outcomes and adverse fetal outcomes. IBD is increasing worldwide but education on IBD issues might be heterogeneous based on cultural differences and variations in models of care.

    METHODS: Consecutive female IBD subjects aged 18-45 years were prospectively recruited from two dedicated IBD-pregnancy clinics, two multidisciplinary IBD clinics and nine general gastroenterology clinics. Subjects completed the validated CCPKnow [score 0-17] with questions on demographics, medical history and pregnancy knowledge. The primary outcome was knowledge per clinic-type and per geographical region.

    RESULTS: Surveys were completed by 717 subjects from 13 hospitals across ten countries. Dedicated IBD-pregnancy clinics had the highest knowledge, followed by multidisciplinary IBD clinics then general IBD clinics (median CCPKnow 10.0 [IQR: 8.0-11.0], 8.0 [IQR: 5.0-10.5] and 4.0 [IQR:2.0-6.0]; p 

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