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  1. Chuah SY, Tan WF, Yap KH, Tai HE, Chow ST
    Forensic Sci Int, 1994 Oct 21;68(3):169-80.
    PMID: 7982636
    The distributions of the D1S80 alleles and genotypes in the Chinese, Malays and Indians in Singapore were determined by amplified fragment length polymorphism (AMP-FLP) analysis. The distributions of the observed genotypes for the three races conformed to Hardy-Weinberg expectations. The system was applied to 19 families whose paternity had been established by restriction fragment length polymorphism (RFLP) analysis. In all cases, Mendelian inheritance of the alleles at the D1S80 locus could be demonstrated. D1S80 typing on DNA recovered by differential extraction of forensic specimens which included vaginal swabs, urethral swabs and seminal stains yielded consistent results.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  2. Ali O, Tan TT, Sakinah O, Khalid BA, Wu LL, Ng ML
    Diabetes Care, 1993 Jan;16(1):68-75.
    PMID: 8422835 DOI: 10.2337/diacare.16.1.68
    OBJECTIVE: To determine the prevalence of diabetes mellitus and IGT in different ethnic groups living in the same physical environment and to find their relationship to nutritional status and dietary intake.

    RESEARCH DESIGN AND METHODS: The study was conducted among Malays and Orang Asli in six rural and urban locations in Malaysia. OGTTs were performed on 706 adult subjects > or = 18 yr of age. WHO criteria were used for diagnosing diabetes mellitus and IGT.

    RESULTS: The overall prevalence of diabetes mellitus and IGT among Orang Asli was 0.3 and 4.4% compared with 4.7 and 11.3%, respectively, among Malays. This increased prevalence of glucose intolerance among Malays was associated with higher levels of social development. Among rural Malays, the crude prevalence of diabetes in a traditional village was 2.8% and in the land scheme was 6.7%, whereas urban Malays had a prevalence of 8.2%. In contrast, the prevalence of IGT (10.5-14.8%) was higher among rural Malays, compared with 9.6% among urban Malays. Ethnic group, > or = 40 yr of age, an income > M$250, fewer daily activity, and obesity were associated with a higher prevalence of diabetes.

    CONCLUSIONS: Diabetes mellitus and IGT, which were more common among Malays than Orang Asli, were associated with more affluent life-styles and modernization.
    Matched MeSH terms: Asian Continental Ancestry Group*
  3. Johan A, Chan CC, Chia HP, Chan OY, Wang YT
    Eur Respir J, 1997 Dec;10(12):2825-8.
    PMID: 9493668
    Maximal static inspiratory and expiratory mouth pressures (PI,max and PE,max, respectively) enable the noninvasive measurement of global respiratory muscle strength. The aim of this study was primarily to obtain normal values of PI,max and PE,max for adult Chinese, Malays and Indians and, secondarily, to study their effect on lung volumes in these subjects. Four hundred and fifty two healthy subjects (221 Chinese, 111 Malays, 120 Indians) were recruited. Measurements of PI,max from residual volume (RV), PE,max from total lung capacity (TLC) and forced vital capacity (FVC) were obtained in the seated position. There were significant ethnic differences in PI,max and PE,max measurements obtained in males, and FVC measurements in both males and females. Chinese males had higher PI,max values (mean (+/-SD) 88.7+/-32.5 cmH2O) and higher PE,max values (113.4+/-41.5) than Malay males (PI,max 74.0+/-22.7 cmH2O, PE,max 94.7+/-23.4 cmH2O). Chinese males had higher PE,max than Indian males (PI,max = 83.7+/-30.0 cmH2O, PE,max 98.4+/-29.2 cmH2O). There were no significant differences among Chinese females (PI,max 53.6+/-2.3 cmH2O, PE,max 68.3+/-24.0 cmH2O), Malay females (PI,max 50.7+/-18.3 cmH2O, PE,max 63.6+/-21.6 cmH2O) and Indian females (PI,max 50.0+/-15.2 cmH2O, PE,max 60.7+/-20.4 cmH2O). In both sexes, the Chinese had a higher FVC compared with Malays and Indians. After adjusting for age, height and weight, race was still a determinant for PE,max in males, and FVC in both sexes. The FVC only correlated weakly with PI,max and PE,max in both sexes. Ethnic differences in respiratory muscle strength, and lung volumes, occur among Asians. However, respiratory muscle strength does not explain the differences in lung volumes in healthy Asian subjects.
    Matched MeSH terms: Asian Continental Ancestry Group*
  4. Whittaker DK, Bakri MM
    Arch Oral Biol, 1996 Jan;41(1):15-9.
    PMID: 8833585
    One hundred and ninety-eight single-rooted teeth from individuals aged 21-90 yr of Caucasian, Malay, Chinese Malay and Indian Malay origin were studied. Single or serial longitudinal sections of extracted teeth were cut following dye imbibition of patent dentinal tubules. The extent of sclerosis of apical dentinal tubules was assessed and correlated with the age of the individual. Correlation with age was higher in the Caucasian than the Malay races and within the Malaysian racial groups correlation with age was highest in the Malays and lowest in the Chinese. It is concluded that factors other than age may be important in the formation of sclerotic apical dentine in teeth of different racial origin. The effect of racial origin should be considered when using sclerosis as a means of age determination in forensic cases.
    Matched MeSH terms: Asian Continental Ancestry Group*
  5. Teh LS, Doherty DG, Williams BD
    Br J Rheumatol, 1994 Dec;33(12):1125-6.
    PMID: 8000739
    Antibodies to the ribosomal P protein are specific for SLE but their prevalence varies in different ethnic groups. In a group of Chinese SLE patients from Malaysia who have a high prevalence of this antibody, we have found an increased frequency of an uncharacterized HLA-DRB gene allele, DR16X, in patients who are positive for anti-P antibodies compared to antibody negative patients (31.3% vs 3.2%, P < 0.01, Pcorr not significant, relative risk = 13.6). DR16X has only been found in south east Asian populations and may be a genetic factor which influences the high prevalence of anti-P antibodies in Chinese.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  6. Teoh MK, Ramasamy D, Wong KP
    Aust N Z J Surg, 1992 Nov;62(11):862-5.
    PMID: 20169704
    Ultrasound examination of the abdominal aorta was performed on 100 patients with cardiovascular disease and a control group of 100 subjects. The objectives were to define the normal aortic size of Malaysians, to screen for aneurysms and to compare the aorta size of the different population groups. In the study group the mean anteroposterior (AP) diameter of the non-aneurysmal aortas at the level of the renal arteries was 1.82 cm (range 0.9-2.6 cm) in men and 1.83 cm (range 1.5-2.3 cm) in women. This compares with 1.61 cm (range 1.1-2.2 cm) in men and 1.50 cm (range 0.8-2.4 cm) in women in the control group. The dimensions of the infrarenal aorta show a similar relationship between the two groups. These AP diameters were significantly smaller than the published figures from studies done on Western populations and are consistent with the smaller stature of Malaysians. Five aneurysms and one ectasia were found (mean size 5 cm, range 3.5-6.0 cm), all in men aged 50-75 years in the study group, and none in the control group. All the aneurysms were easily palpable in these patients who were thinner than the average Caucasian. Given the lower incidence of aortic aneurysms in Malaysians there is no role for routine ultrasound screening of the population. High risk groups can be adequately screened by clinical examination alone.
    Matched MeSH terms: Asian Continental Ancestry Group/statistics & numerical data*
  7. Roberts-Thomson PJ, Shepherd K, Bradley J, Boey ML
    Rheumatol Int, 1990;10(3):95-8.
    PMID: 2392640
    Low molecular weight IgM (LMW IgM) is the monomeric subunit of the naturally occurring pentameric IgM. It is not seen in health but has been previously observed in systemic lupus erythematosus (SLE) particularly in those patients with active disease and may reflect an adverse prognostic finding. We have therefore studied the presence of LMW IgM in 33 Chinese or Malay SLE patients (Singapore) and 21 Caucasian patients (Adelaide). LMW IgM was measured using filtration chromatography or by a sensitive immunoblotting technique. LMW IgM was observed in all patients in the Adelaide group and in 32 patients in the Singapore group with slightly greater quantities being seen in the Adelaide group. LMW IgM constituted up to 15.3% of the total IgM and was frequently associated with the presence of other low molecular weight IgM oligomers. In both groups LMW IgM correlated significantly with the total IgM levels (P less than 0.01). In a more detailed study in the Singapore group LMW IgM also correlated significantly with the IgM anticardiolipin levels (P = 0.02) but not with IgG anticardiolipin or with IgG or IgM anti-DNA levels or with rheumatoid factor. Patients with more extensive organ involvement had higher levels of LMW IgM but not at a significant level. We conclude that circulating LMW IgM occurs almost universally in SLE, is closely related to the total IgM levels and appears independent of ethnic background. The significance of LMW IgM in this disorder is unclear.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  8. Siak J, Jansen A, Waduthantri S, Teoh CS, Jap A, Chee SP
    Ocul Immunol Inflamm, 2017;25(sup1):S81-S93.
    PMID: 27419535 DOI: 10.1080/09273948.2016.1188968
    PURPOSE: To describe the pattern of uveitis among Chinese, Malays, and Indians at a tertiary referral institution in Singapore.

    METHODS: Charts between January 1997 and December 2010 were retrospectively reviewed. Charts between January 2014 and December 2014 were prospectively reviewed.

    RESULTS: A total of 1249 and 148 charts were retrospectively and prospectively reviewed, respectively. The top causes of anterior uveitis (AU) were HLA-B27, idiopathic, and CMV AU. The top known causes of intermediate uveitis were tuberculosis, primary intraocular lymphoma, and sarcoidosis. The top causes of posterior uveitis were CMV retinitis, toxoplasmosis, and dengue maculopathy. The top causes of panuveitis were VKH, idiopathic panuveitis, tuberculosis, and Behçet disease. HLA-B27 and CMV AU were more frequent among Chinese (21% vs 9% (non-Chinese); p<0.001; 10% vs 5% (non-Chinese); p<0.001, respectively). Tuberculous uveitis was more frequent among Malays and Indians (12% (non-Chinese) vs 5% (Chinese), p<0.001).

    CONCLUSIONS: Different uveitis patterns were encountered among patients of different races.

    Matched MeSH terms: Asian Continental Ancestry Group/ethnology*
  9. Ali EZ, Khalid MK, Yunus ZM, Yakob Y, Chin CB, Abd Latif K, et al.
    Eur J Pediatr, 2016 Mar;175(3):339-46.
    PMID: 26440671 DOI: 10.1007/s00431-015-2644-z
    Carbamoyl phosphate synthetase 1 (CPS1) deficiency is a rare autosomal recessive disorder of ureagenesis presenting as life-threatening hyperammonemia. In this study, we present the main clinical features and biochemical and molecular data of six Malaysian patients with CPS1 deficiency. All the patients have neonatal-onset symptoms, initially diagnosed as infections before hyperammonemia was recognized. They have typical biochemical findings of hyperglutaminemia, hypocitrullinemia, and low to normal urinary excretion of orotate. One neonate succumbed to the first hyperammonemic decompensation. Five neonatal survivors received long-term treatment consisting of dietary protein restriction and ammonia-scavenging drugs. They have delayed neurocognitive development of varying severity. Genetic analysis revealed eight mutations in CPS1 gene, five of which were not previously reported. Five mutations were missense changes while another three were predicted to create premature stop codons. In silico analyses showed that these new mutations affected different CPS1 enzyme domains and were predicted to interrupt interactions at enzyme active sites, disturb local enzyme conformation, and destabilize assembly of intact enzyme complex.

    CONCLUSION: All mutations are private except one mutation; p.Ile1254Phe was found in three unrelated families. Identification of a recurrent p.Ile1254Phe mutation suggests the presence of a common and unique mutation in our population. Our study also expands the mutational spectrum of the CPS1 gene.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  10. Abubakar M, Sung H, Bcr D, Guida J, Tang TS, Pfeiffer RM, et al.
    Breast Cancer Res, 2018 09 18;20(1):114.
    PMID: 30227867 DOI: 10.1186/s13058-018-1033-8
    BACKGROUND: Limited evidence, mostly from studies in Western populations, suggests that the prognostic effects of lifestyle-related risk factors may be molecular subtype-dependent. Here, we examined whether pre-diagnostic lifestyle-related risk factors for breast cancer are associated with clinical outcomes by molecular subtype among patients from an understudied Asian population.

    METHODS: In this population-based case series, we evaluated breast cancer risk factors in relation to 10-year all-cause mortality (ACM) and 5-year recurrence by molecular subtype among 3012 women with invasive breast cancer in Sarawak, Malaysia. A total of 579 deaths and 314 recurrence events occurred during a median follow-up period of ~ 24 months. Subtypes (luminal A-like, luminal B-like, HER2-enriched, triple-negative) were defined using immunohistochemical markers for hormone receptors and human epidermal growth factor receptor 2 (HER2) in conjunction with histologic grade. Hazard ratios (HRs) and 95% confidence intervals (CIs) for the associations between risk factors and ACM/recurrence were estimated in subtype-specific Cox regression models.

    RESULTS: We observed heterogeneity in the relationships between parity/breastfeeding, age at first full-term pregnancy (FFP), family history, body mass index (BMI), and tumor subtype (p value  30 vs 

    Matched MeSH terms: Asian Continental Ancestry Group/statistics & numerical data*
  11. Kang PC, Phuah SY, Sivanandan K, Kang IN, Thirthagiri E, Liu JJ, et al.
    Breast Cancer Res Treat, 2014 Apr;144(3):635-42.
    PMID: 24578176 DOI: 10.1007/s10549-014-2894-x
    Although the breast cancer predisposition genes BRCA1 and BRCA2 were discovered more than 20 years ago, there remains a gap in the availability of genetic counselling and genetic testing in Asian countries because of cost, access and inaccurate reporting of family history of cancer. In order to improve access to testing, we developed a rapid test for recurrent mutations in our Asian populations. In this study, we designed a genotyping assay with 55 BRCA1 and 44 BRCA2 mutations previously identified in Asian studies, and validated this assay in 267 individuals who had previously been tested by full sequencing. We tested the prevalence of these mutations in additional breast cancer cases. Using this genotyping approach, we analysed recurrent mutations in 533 Malaysian breast cancer cases with <10 % a priori risk, and found 1 BRCA1 (0.2 %) and 5 BRCA2 (0.9 %) carriers. Testing in a hospital-based unselected cohort of 532 Singaporean breast cancer cases revealed 6 BRCA1 (1.1 %) and 3 BRCA2 (0.6 %) carriers. Overall, 2 recurrent BRCA1 and 1 BRCA2 mutations in Malays, 3 BRCA1 and 2 BRCA2 mutations in Chinese and 1 BRCA1 mutation in Indians account for 60, 24 and 20 % of carrier families, respectively. By contrast, haplotype analyses suggest that a recurrent BRCA2 mutation (c.262_263delCT) found in 5 unrelated Malay families has at least 3 distinct haplotypes. Taken together, our data suggests that panel testing may help to identify carriers, particularly Asian BRCA2 carriers, who do not present with a priori strong family history characteristics.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  12. Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, et al.
    Breast Cancer Res Treat, 2010 Nov;124(2):579-84.
    PMID: 20617377 DOI: 10.1007/s10549-010-1018-5
    Early studies of genetic predisposition due to the BRCA1 and BRCA2 genes have focused largely on sequence alterations, but it has now emerged that 4-28% of inherited mutations in the BRCA genes may be due to large genomic rearrangements of these genes. However, to date, there have been relatively few studies of large genomic rearrangements in Asian populations. We have conducted a full sequencing and large genomic rearrangement analysis (using Multiplex Ligation-dependent Probe Amplification, MLPA) of 324 breast cancer patients who were selected from a multi-ethnic hospital-based cohort on the basis of age of onset of breast cancer and/or family history. Three unrelated individuals were found to have large genomic rearrangements: 2 in BRCA1 and 1 in BRCA2, which accounts for 2/24 (8%) of the total mutations detected in BRCA1 and 1/23 (4%) of the mutations in BRCA2 detected in this cohort. Notably, the family history of the individuals with these mutations is largely unremarkable suggesting that family history alone is a poor predictor of mutation status in Asian families. In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  13. Ho EC, Ong WMW, Li K, Zhang H, Bei YTE, Medapati SVR, et al.
    Int J Audiol, 2018 10;57(10):776-783.
    PMID: 29957077 DOI: 10.1080/14992027.2018.1476781
    OBJECTIVE: To examine the factors associated with late presentation at first hearing aid (HA) fitting, HA choice and usage among users in Singapore.

    DESIGN: Retrospective cross-sectional study.

    STUDY SAMPLE: 1068 subjects issued with HAs at a tertiary hospital from 2001 to 2013.

    RESULTS: Half of the subjects presented with more severe (>55 dB) hearing loss (HL) in their better ear. In multivariable analysis, older age, Malay ethnicity, conductive and mixed HL, and combination type of HL were associated with more severe HL at first presentation. Over 70% of subjects were older than 65 years. Worse pure tone audiometry (PTA) thresholds of the better ear, gradual onset and sensorineural HL were associated with older age presentation. For unilaterally fitted subjects, PTA thresholds were the only determinant of having the better ear aided. Better PTA thresholds, younger age and sensorineural HL were associated with choosing in ear compared to behind the ear HAs. Younger age and worse PTA of the better ear were associated with ≥4 h of daily HA usage.

    CONCLUSIONS: Age, ethnicity and type of HL were important determinants for more severe HL at first HA fitting. Older patients and those with better hearing were less likely to use their HAs regularly.

    Matched MeSH terms: Asian Continental Ancestry Group/psychology
  14. Kumaran A, Chan A, Yong K, Shen S
    Orbit, 2019 Apr;38(2):95-102.
    PMID: 29482415 DOI: 10.1080/01676830.2018.1441316
    AIM: To describe differences in the deep lateral orbital wall (specifically, trigone) between Chinese, Malay, Indian and Caucasian subjects Methods: Single-centre retrospective Computed Tomogram (CT)-based study; 20 subjects of each ethnicity were used from existing databases, matched for gender, average age and laterality. Subjects below 16 years of age were excluded. DICOM image viewing software CARESTREAM Vue PACS (Carestream Health Inc., USA) and OsiriX version 7.5 (Pixmeo., Switzerland) were used to measure deep lateral wall length, thickness and volume, as well as orbital depth and statistical analyses performed using Statistical Package for Social Sciences version 21 (IBM, USA).

    RESULTS: In each group, there were 12 males (60%) and average age was not significantly different (p = 0.682-0.987). Using Chinese subjects as a reference, in Chinese, Malay, Indian and Caucasian subjects, mean trigone thickness was 13.68, 14.02, 11.60 (p 

    Matched MeSH terms: Asian Continental Ancestry Group/ethnology
  15. Yong RY, Gan LS, Chang YM, Yap EP
    Hum Genet, 2007 Nov;122(3-4):237-49.
    PMID: 17588179
    Amelogenin paralogs on Chromosome X (AMELX) and Y (AMELY) are commonly used sexing markers. Interstitial deletion of Yp involving the AMELY locus has previously been reported. The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened. The null allele in this study belongs to 3 Y haplogroups; J2e1 (85.7%), F* (9.5%) and D* (4.8%). Low and high-resolution STS mapping, followed by sequence analysis of breakpoint junction confirmed a large deletion of 3 to 3.7-Mb located at the Yp11.2 region. Both breakpoints were located in TSPY repeat arrays, suggesting a non-allelic homologous recombination (NAHR) mechanism of deletion. All regional null samples shared identical breakpoint sequences according to their haplogroup affiliation, providing molecular evidence of a common ancestry origin for each haplogroup, and at least 3 independent deletion events recurred in history. The estimated ages based on Y-SNP and STR analysis were approximately 13.5 +/- 3.1 kyears and approximately 0.9 +/- 0.9 kyears for the J2e1 and F* mutations, respectively. A novel polymorphism G > A at Y-GATA-H4 locus in complete linkage disequilibrium with J2e1 null mutations is a more recent event. This work re-emphasizes the need to include other sexing markers for gender determination in certain regional populations. The frequency difference among global populations suggests it constitutes another structural variation locus of human chromosome Y. The breakpoint sequences provide further information to a better understanding of the NAHR mechanism and DNA rearrangements due to higher order genomic architecture.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  16. Amini F, Thazin Oo NM, Okechukwu PN, Seghayat MS, Ng ESC
    Australas J Dermatol, 2019 May;60(2):e99-e104.
    PMID: 30215845 DOI: 10.1111/ajd.12918
    BACKGROUND/OBJECTIVES: The unknown pathogenesis of periorbital hyperpigmentation makes its treatment difficult. Existing evidence links p53 and VEGFA genes with skin hyperpigmentation. This study was aimed at (i) identifying the clinical pattern of periorbital hyperpigmentation; and (ii) detecting the presence of VEGFA and P53 single nucleotide polymorphism (SNPs) in different subtypes of periorbital hyperpigmentation in Malaysian Chinese.

    METHODS: A cross-sectional study was conducted among Malaysian Chinese. Clinical assessments were performed, and medical history was collected. Three regions of p53 and two of VEGFA were amplified by PCR followed by direct sequencing using saliva-extracted DNA.

    RESULTS: Eighty-four participants were recruited (average age 22.2 years). In the majority (n = 62), both eyelids were affected. Facial pigmentary, demarcation lines, tear trough and eye bags were not observed. Mixed (pigmented-vascular) was the most common subtype. Thirteen SNPs were found, nine of which are new. Only three out of 13 SNPs showed significant association with periorbital hyperpigmentation presentation. TA genotype in rs1437756379 (p53) was significantly more prevalent among participants with mixed subtype (P = 0.011) while AC genotype in rs1377053612 (VEGFA) was significantly more prevalent among pigmented subtype (P = 0.028). AA genotype in rs1479430148 (VEGFA) was significantly associated with allergic rhinitis in mixed subtype (P = 0.012).

    CONCLUSION: Mixed subtype was the most prevalent type of periorbital hyperpigmentation in the study population. Three polymorphisms in p53 and VEGFA genes were statistically linked with different clinical presentations of periorbital hyperpigmentation.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  17. Yew PY, Mushiroda T, Kiyotani K, Govindasamy GK, Yap LF, Teo SH, et al.
    Mol Carcinog, 2012 Oct;51 Suppl 1:E74-82.
    PMID: 22213098 DOI: 10.1002/mc.21857
    Nasopharyngeal carcinoma (NPC) is a multifactorial and polygenic disease with high incidence in Asian countries. Epstein-Barr virus infection, environmental and genetic factors are believed to be involved in the tumorigenesis of NPC. The association of single nucleotide polymorphisms (SNPs) in LPLUNC1 and SPLUNC1 genes with NPC was investigated by performing a two-stage case control association study in a Malaysian Chinese population. The initial screening consisted of 81 NPC patients and 147 healthy controls while the replication study consisted of 366 NPC patients and 340 healthy controls. The combined analysis showed that a SNP (rs2752903) of SPLUNC1 was significantly associated with the risk of NPC (combined P = 0.00032, odds ratio = 1.62, 95% confidence interval = 1.25-2.11). In the subsequent dense fine mapping of SPLUNC1 locus, 36 SNPs in strong linkage disequilibrium with rs2752903 (r(2) ≥ 0.85) were associated with NPC susceptibility. Screening of these variants by electrophoretic mobility shift and luciferase reporter assays showed that rs1407019 located in intron 3 (r(2)  = 0.994 with rs2752903) caused allelic difference in the binding of specificity protein 1 (Sp1) transcription factor and affected luciferase activity. This SNP may consequently alter the expression of SPLUNC1 in the epithelial cells. In summary, our study suggested that rs1407019 in intronic enhancer of SPLUNC1 is associated with NPC susceptibility in which its A allele confers an increased risk of NPC in the Malaysian Chinese population.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  18. Hasmad HN, Lai KN, Wen WX, Park DJ, Nguyen-Dumont T, Kang PCE, et al.
    Gynecol Oncol, 2016 05;141(2):318-322.
    PMID: 26541979 DOI: 10.1016/j.ygyno.2015.11.001
    OBJECTIVE: Despite the discovery of breast and ovarian cancer predisposition genes BRCA1 and BRCA2 more than two decades ago, almost all the available data relate to women of European ancestry, with only a handful of studies in Asian populations. In this study, we determined the frequency of germline alterations in BRCA1 and BRCA2 in ovarian cancer patients from a multi-ethnic cross-sectional cohort of Asian ovarian cancer patients from Malaysia.

    METHODS: From October 2008 to February 2015, we established a hospital-based cohort of ovarian cancer patients and the germline status of all 218 women with invasive epithelial ovarian cancer was tested using targeted amplification and sequencing of the intron-exon junctions and exonic sequences of BRCA1, BRCA2, PALB2 and TP53.

    RESULTS: BRCA1 and BRCA2 mutations were found in 8% (17 cases) and 3% (7 cases) of the ovarian cancer patients, respectively. Mutation carriers were diagnosed at a similar age to non-carriers, but were more likely to be Indian, have serous ovarian cancer, and have more relatives with breast or ovarian cancer. Nonetheless, 42% (10/24) of mutation carriers did not have any family history of breast or ovarian cancer and offering genetic counselling and genetic testing only to women with family history would mean that 35% (6/17) of BRCA1 mutation carriers and 57% (4/7) of BRCA2 mutation carriers would not be offered genetic testing.

    CONCLUSIONS: Our data suggest that, similar to Caucasians, a significant proportion of Asian ovarian cancer was attributed to germline mutations in BRCA1 and to a lesser extent in BRCA2.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  19. Petoumenos K, Choi JY, Hoy J, Kiertiburanakul S, Ng OT, Boyd M, et al.
    Antivir Ther, 2017;22(8):659-668.
    PMID: 28291735 DOI: 10.3851/IMP3155
    BACKGROUND: In the era of effective antiretroviral treatment (ART) CD4:CD8 ratio is proposed as a potential marker for HIV-positive (HIV+) patients at increased risk for non-AIDS comorbidities. The current study aims to compare CD4:CD8 ratio between Asian and Caucasian HIV+ patients.

    METHODS: HIV+ patients from the Australian HIV Observational Database (AHOD) and the TREAT Asia HIV Observational Database (TAHOD) meeting specific criteria were included. In these analyses Asian and Caucasian status were defined by cohort. Factors associated with a low CD4:CD8 ratio (cutoff <0.2) prior to ART commencement, and with achieving a normal CD4:CD8 ratio (>1) at 12 and 24 months post ART commencement were assessed using logistic regression.

    RESULTS: There were 591 patients from AHOD and 2,620 patients from TAHOD who met the inclusion criteria. TAHOD patients had a significantly (P<0.001) lower odds of having a baseline (prior to ART initiation) CD4:CD8 ratio greater than 0.2. After 12 months of ART, AHOD patients were more than twice as likely to achieve a normal CD4:CD8 ratio compared to TAHOD patients (15% versus 6%). However, after adjustment for confounding factors there was no significant difference between cohorts in the odds of achieving a CD4:CD8 ratio >1 (P=0.475).

    CONCLUSIONS: We found a significantly lower CD4:CD8 ratio prior to commencing ART in TAHOD compared to AHOD even after adjusting for confounders. However, after adjustment, there was no significant difference between the cohorts in odds of achieving normal ratio. Baseline CD4+ and CD8+ counts seem to be the main driver for this difference between these two populations.

    Matched MeSH terms: Asian Continental Ancestry Group*
  20. Nik Azis NN, Chew FLM, Rosland SF, Ramlee A, Che-Hamzah J
    J AAPOS, 2019 10;23(5):268.e1-268.e6.
    PMID: 31520719 DOI: 10.1016/j.jaapos.2019.01.019
    PURPOSE: To evaluate parents' performance in using the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) Vision Screening App (application) as a vision screening tool among preschool children and to evaluate the reliability of this app.

    METHODS: A total of 195 5- and 6-year-old preschoolers were recruited from children attending Hospital Selayang, Selangor, Malaysia, to test the app. Uncooperative children and those with visual acuity of >logMAR 0.6 were excluded. Results from parents and the screening doctor using the app (Lea symbols) to test visual acuity were compared to each other and to gold standard vision testing by an optometrist using the Lea symbols chart.

    RESULTS: Children 5 years of age represented 46.7% of the study population. The mean age of parents was 37.27 ± 7.68 years. Bland-Altman scatterplot agreement between assessors mainly was within the 95% confidence interval for bilateral eyes screening. Parents obtained a sensitivity of 86.6% (right vision) and 79.5% (left vision) and specificity of 78.9% (right vision) and 71.8% (left vision). Parents took a mean of 191.2 ± 70.82 seconds for bilateral screening. The intraclass correlation coefficient between optometrist and parents in bilateral eyes screening was good (P 0.7, indicating high internal reliability of the app. Most parents (178/195 [91.3%]) strongly agreed on the app's acceptability and ease of use.

    CONCLUSIONS: The AAPOS Vision Screening App used by parents is a promising tool for visual acuity screening among Malaysian preschool children and a reliable app for vision screening.

    Matched MeSH terms: Asian Continental Ancestry Group/ethnology*
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