Displaying publications 21 - 40 of 309 in total

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  1. Bradley A, Mennie N, Bibby PA, Cassaday HJ
    PLoS One, 2020;15(1):e0227948.
    PMID: 31961885 DOI: 10.1371/journal.pone.0227948
    Globally, many millions of animals are used by humans every year and much of this usage causes public concern. A new scale, devised to measure attitudes to animal use in relation to the purpose of use and species, the Animal Purpose Questionnaire (APQ), was completed by in total 483 participants, 415 British nationals and 68 participants from 39 other countries. The APQ was presented in two survey formats, alongside an established Animal Attitudes Scale (AAS). In both surveys, participants also provided demographic details to provide a context to their attitudes to animals. As might be expected, and consistent with the validity of the new scale, overall scores on the AAS and APQ were highly correlated. However, the APQ provided a more differentiated measure of attitudes to animal use across a variety of settings. The results showed that there was overall higher levels of agreement with the use of animals in medical research and basic science, less endorsement for food production and pest control, and the use of animals for other cultural practices was generally disapproved of, irrespective of species. Participants overall disagreed with the use of rabbits, monkeys, badgers, tree shrews (survey 1), chimpanzees, dogs, dolphins and parrots (survey 2), but were neutral about the use of rats, mice, pigs, octopus, chickens, zebrafish (survey 1), carp, chickens, pigs, pigeons, rabbits and rats (survey 2). Interactions between species and purpose were largely driven by the consideration of using diverse species for food production. In general, females and vegetarians expressed less agreement with the use of animals with some differences by purpose of use. Pet keeping consistently predicted reduced willingness to use animals for basic science (only). The APQ provides a new tool to unpack how public attitudes depend on the intersectionality of demographics, species and purpose of use.
    Matched MeSH terms: Animal Population Groups/psychology*
  2. Tappe D, Gross Y, Ngui R, Rauch J, Tay ST, Lim YAL
    Vector Borne Zoonotic Dis, 2019 05;19(5):323-327.
    PMID: 30540546 DOI: 10.1089/vbz.2018.2391
    Rickettsioses of the typhus group (TG) and spotted fever group (SFG) are emerging bacterial infections worldwide, especially in the tropics. Only a few studies on these pathogens and their respective clinical diseases have been conducted in Malaysia. Here, we performed a seroprevalence study among 544 healthy, afebrile indigenous people (Orang Asli) from peninsular Malaysia for TG and SFG rickettsioses in nine rural and peri-urban settlements. The study population encompassed children, adolescents, and adults. The overall seroprevalence of rickettsiosis in the Orang Asli was 48.5%, with 27.9% seroprevalence against TG rickettsiae and 20.6% seroprevalence against SFG rickettsiae. In 7.9% of the study participants, antibodies against both rickettsial groups were found. The highest seropositivity rates against TG and SRG rickettsiae were detected in young children and adults. Overall, there were no gender differences. Seroprevalences were similar among inhabitants of different settlements, except for two localities. More studies are needed to shed more light on the ecology and risk factors for TG and SFG rickettsioses in Malaysia.
    Matched MeSH terms: Population Groups*
  3. Teoh LY, Chong SS, Hoh SY, Teoh MS, Ng KL
    Asian J Surg, 2019 May;42(5):634-640.
    PMID: 30446424 DOI: 10.1016/j.asjsur.2018.09.014
    OBJECTIVES: Monofilament sutures, both absorbable and non-absorbable, have been used for wound closure. Tissue adhesive has been used in closure of clean, low tension wounds. However, there have been very few published studies on the aesthetic outcomes in neck surgeries. The aim of this study is to compare the patients' and doctors' satisfaction scores in the aesthetic outcome between both methods of closure of thyroidectomy wounds using validated scoring systems.

    METHODS: A double-blinded randomised controlled trial comparing the aesthetic outcome between tissue adhesive and conventional suture was conducted among patients undergoing thyroid and parathyroid surgeries. Ninety-six patients were randomised into two treatment groups. Patients' wounds were scored by an independent observer using the SBSES score at 6 weeks postoperatively and observer component of the POSAS score at 3 months.

    RESULTS: Forty-nine patients were randomised to the tissue adhesive group while forty-seven patients received the conventional method. There was no statistical difference in the aesthetic outcome using the patient's scoring system between both arms, with a median score of 9 (p = 0.25, SD ± 6.5). The observer's satisfaction score using POSAS was also not statistically significant (median score of 14 (p = 0.77, SD ± 6.2)). No significance was found in the observer's median score using the SBSES scoring system either (score 3, p = 0.12, SD ± 1.3). However, there was significant reduction in the duration of closure using glue (4.42 mins vs 6.36 mins, p 

    Matched MeSH terms: Continental Population Groups
  4. Ghani NA, Shohaimi S, Hee AK, Chee HY, Emmanuel O, Alaba Ajibola LS
    Trop Med Infect Dis, 2019 Feb 15;4(1).
    PMID: 30781369 DOI: 10.3390/tropicalmed4010037
    BACKGROUND: Dengue has affected more than one-third of the world population and Malaysia has recorded an increase in the number of dengue cases since 2012. Selangor state recorded the highest number of dengue cases in Malaysia. Most of the dengue infections occur among people living in hotspot areas of dengue. This study aims to compare Knowledge, Attitude, and Practice among communities living in hotspot and non-hotspot dengue areas.

    METHOD: Communities living in 20 hotspot and 20 non-hotspot areas in Selangor were chosen in this study where 406 participants were randomly selected to answer questionnaires distributed at their housing areas. Total marks of each categories were compared using t-test.

    RESULT: Results show that there were significant mean differences in marks in Knowledge (p value: 0.003; 15.41 vs. 14.55) and Attitude (p value: < 0.001; 11.41 vs. 10.33), but not Practice (p value 0.101; 10.83 vs. 10.47) categories between communities of non-hotspot and hotspot areas. After considering two confounding variables which are education level and household income, different mean marks are found to be significant in Knowledge when education level acts as a covariate and Attitude when both act as covariates.

    CONCLUSION: Overall results show that people living in non-hotspot areas had better knowledge and attitude than people living in hotspot areas, but no difference was found in practice. This suggests that public health education should be done more frequently with people with a low education background and low household income, especially in hotspot areas to fight dengue outbreak and make dengue cases decrease effectively.

    Matched MeSH terms: Population Groups
  5. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, et al.
    Am J Med Genet A, 2019 02;179(2):150-158.
    PMID: 30614194 DOI: 10.1002/ajmg.a.61033
    Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
    Matched MeSH terms: Continental Population Groups/genetics
  6. Tham DSY, Woo PJ, Bremner JG
    Dev Psychobiol, 2019 01;61(1):107-115.
    PMID: 30239984 DOI: 10.1002/dev.21783
    Little is known about how infants born and raised in a multiracial environment process own- and other-race faces. We investigated face recognition of 3- to 4-month-old (N = 36) and 8- to 9-month-old (N = 38) Chinese infants from Kuala Lumpur, Malaysia, a population that is considered multiracial, using female and male faces that are of infants' own-race (Chinese), experienced other-race (Malay) and less experienced other-race (Caucasian-White). Three- to 4-month-olds recognized own-race female faces, whereas 8- to 9-month-olds also recognized experienced other-race female faces (Malay) in addition to own-race female faces (Chinese). Furthermore, infants from this population did not show recognition for male faces at any age. This contrasts with 8- to 9-month-old British-White infants (Tham, Bremner, & Hay, ), a group that is considered single-race, who recognized female and male own-race faces. It appears that for infants born and raised in a multiracial environment, there is a developmental shift from a female-based own-race recognition advantage to a female-based own- and experienced other-race advantage that may relate to infants' social and caregiving experiences.
    Matched MeSH terms: Continental Population Groups*
  7. Puobon U, Intharanut K, Mitundee S, Nathalang O
    Malays J Med Sci, 2019 Jan;26(1):58-65.
    PMID: 30914893 MyJurnal DOI: 10.21315/mjms2019.26.1.5
    Background: The Kidd (JK) blood group system is of clinical importance in transfusion medicine. JK*A and JK*B allele detections are useful in genetic anthropological studies. This study aimed to determine the frequencies of JK*A and JK*B alleles among Muslim blood donors from Southern Thailand and to compare how they differ from those of other populations that have been recently studied.

    Methods: A cross-sectional study was used. Totally, 427 samples of dissimilar Thai-Muslim healthy blood donors living in three southern border provinces were selected via simple random sampling (aged 17-65 years old) and donors found to be positive for infectious markers were excluded. All samples were analysed for JK*A and JK*B alleles using PCR-SSP. The Pearson's chi-squared and Fisher exact tests were used to compare the JK frequencies among southern Thai-Muslim with those among other populations previously reported.

    Results: A total of 427 donors-315 males and 112 females, with a median age of 29 years (interquartile range: 18 years)-were analysed. A JK*A/JK*B genotype was the most common, and the JK*A and JK*B allele frequencies among the southern Thai-Muslims were 55.2% and 44.8%, respectively. Their frequencies significantly differed from those of the central Thai, Korean, Japanese, Brazilian-Japanese, Chinese, Filipino, Africans and American Natives populations (P < 0.05). Predicted JK phenotypes were compared with different groups of Malaysians. The Jk(a+b+) phenotype frequency among southern Thai-Muslims was significantly higher than that of Malaysian Malays and Indians (P < 0.05).

    Conclusions: The JK*A and JK*B allele frequencies in a southern Thai-Muslim population were determined, which can be applied not only to solve problems in transfusion medicine but also to provide tools for genetic anthropology and population studies.

    Matched MeSH terms: Population Groups
  8. Zhang F, Finkelstein J
    Pharmgenomics Pers Med, 2019;12:107-123.
    PMID: 31308725 DOI: 10.2147/PGPM.S207449
    Introduction: Racial and ethnic categories are frequently used in pharmacogenetics literature to stratify patients; however, these categories can be inconsistent across different studies. To address the ongoing debate on the applicability of traditional concepts of race and ethnicity in the context of precision medicine, we aimed to review the application of current racial and ethnic categories in pharmacogenetics and its potential impact on clinical care.

    Methods: One hundred and three total pharmacogenetics papers involving the CYP2C9, CYP2C19, and CYP2D6 genes were analyzed for their country of origin, racial, and ethnic categories used, and allele frequency data. Correspondence between the major continental racial categories promulgated by National Institutes of Health (NIH) and those reported by the pharmacogenetics papers was evaluated.

    Results: The racial and ethnic categories used in the papers we analyzed were highly heterogeneous. In total, we found 66 different racial and ethnic categories used which fall under the NIH race category "White", 47 different racial and ethnic categories for "Asian", and 62 different categories for "Black". The number of categories used varied widely based on country of origin: Japan used the highest number of different categories for "White" with 17, Malaysia used the highest number for "Asian" with 24, and the US used the highest number for "Black" with 28. Significant variation in allele frequency between different ethnic subgroups was identified within 3 major continental racial categories.

    Conclusion: Our analysis showed that racial and ethnic classification is highly inconsistent across different papers as well as between different countries. Evidence-based consensus is necessary for optimal use of self-identified race as well as geographical ancestry in pharmacogenetics. Common taxonomy of geographical ancestry which reflects specifics of particular countries and is accepted by the entire scientific community can facilitate reproducible pharmacogenetic research and clinical implementation of its results.

    Matched MeSH terms: Continental Population Groups
  9. Reddy G, Gleibs IH
    Front Psychol, 2019;10:792.
    PMID: 31040805 DOI: 10.3389/fpsyg.2019.00792
    Psychological literature on race has discussed in depth how racial identities are dialogically constructed and context dependent. However, racial identity construction is often not compared across different socio-political contexts. By researching racial identity construction in three different multicultural countries, Malaysia, Singapore, and the United Kingdom, we examined how three racial identities, Chinese, Malay, and Indian, are constructed among Malaysians and Singaporeans in this qualitative study comprised of 10 focus group discussions (N = 39). We applied Dialogical Analysis to the data. This paper shows that both racial ingroups and outgroups constructed all three racial identities, with ingroups constructing their identities more heterogeneously compared to outgroups. Participants also engaged with colonial constructions of the three racial identities. The geographical locations, and therefore their perceptual contexts, of the participants differed. Yet, colonial constructions of race endured in contemporary identity construction and were contested in the group settings. We conclude that the socio-political context as understood by the context of colonialism and post-coloniality influenced their racial identity constructions. Participants, regardless of differences in geographical location, used similar colonial constructions of Malay, Chinese, and Indian identities to position themselves as well as Others in their group interactions. These findings show that there is value in conceptualising the context beyond that which individuals are immediately presented with, and that psychologists should consider the inclusion of cultural legacies of colonialism in their conceptualisation of the present context.
    Matched MeSH terms: Continental Population Groups
  10. Lim, L. N., Yu, K. S., Chua, S. M., George, E., Lai, M. I., Wong, L., et al.
    MyJurnal
    Introduction: Filipino β°-deletion is predominant among the β-thalassaemia patients in the indigenous population of Sabah, Malaysia particularly among the Kadazandusun. Individuals who co-inherit with α- and β-thalassaemia will demonstrate milder clinical symptoms with modified complete blood count (CBC) and Hb subtype parameters. HBS1L-MYB variants act as one of the key regulator of haematopoiesis and erythropoiesis and display strong association
    with variation of HbF levels. Therefore, this study aims to evaluate the association between genetic variants in HBS1L-MYB with Hb subtypes level among Filipino β°-deletion carriers co-inherited with -α3.7 deletion. Methods: Filipino β°-deletion and -α3.7 deletion were identified using gap-polymerase chain reaction (PCR). A total of 34 subjects found with coinheritance of Filipino β°-deletion and -α3.7 deletion were subjected for HBS1L-MYB intergenic polymorphisms (HMIP) analysis. Hb subtypes level were quantified using BioRad Variant II Hb analyser. Genotyping of HBS1L-MYB variants rs9399137 and rs11759553 was done using own designed tetra primer ARMS-PCR. Results: The minor allele frequencies (MAF) of the two HMIP is found more than 0.05 (rs11759553, MAF=0.18 and rs9399137, MAF=0.15), indicating the significance of these variants among the study subjects. Significant difference was found between HbF level and HBS1L-MYB variant rs11759553 with p-value less than 0.05 (p=0.001). Subjects with homozygous genotype for rs11759553 (T/T) was found with higher HbF, followed by heterozygous (A/T) and wild type (A/A). rs11759553 and rs9399137 was found did not influence the level of HbA and HbA2. HMIP of rs11759553 and rs9399137 are found significant among Filipino β°-deletion carriers co-inherited with -α3.7deletion with its high minor allelic frequency and high HbF level. Strong association with HbF level was demonstrated when
    coinheritance of rs11759553. Conclusion: This study demonstrates that there are significant associations between certain genetic variants in HBS1L-MYB with Hb subtypes level among Filipino β°-deletion carriers co-inherited with -α3.7 deletion.
    Matched MeSH terms: Population Groups
  11. Akhabue E, Perak AM, Chan C, Greenland P, Allen NB
    J Pediatr, 2018 Nov;202:98-105.e6.
    PMID: 30177351 DOI: 10.1016/j.jpeds.2018.07.023
    OBJECTIVE: To assess whether racial differences in rates of change in body mass index (BMI) and blood pressure (BP) percentiles emerge during distinct periods of childhood.

    STUDY DESIGN: In this retrospective cohort study, we included children aged 5-20 years who received regular outpatient care at a large academic medical center between January 1996 and April 2016. BMI was expressed as age- and sex-specific percentiles and BP as age-, sex-, and height-specific percentiles. Linear mixed models incorporating linear spline functions with 2 breakpoints at 9 and 12 years of age were used to estimate the changes in BMI and BP percentiles over time during age periods: <9, 9-<12, and >12 years of age.

    RESULTS: Among 5703 children (24.8% black, 10.1% Hispanic), Hispanic females had an increased rate of change in BMI percentile per year relative to white females during ages 5-9 years (+2.94%; 95% CI, 0.24-5.64; P = .033). Black and Hispanic males also had an increased rate of change in BMI percentile per year relative to white males that occurred from ages 5-9 (+2.35% [95% CI, 0.76-3.94; P = .004]; +2.63% [95% CI, 0.31-4.95; P = .026], respectively). There were no significant racial differences in the rate of change of BP percentiles, although black females had higher hypertension rates compared with white females (10.0% vs 5.7%; P 

    Matched MeSH terms: Continental Population Groups/statistics & numerical data*
  12. King JL, Churchill JD, Novroski NMM, Zeng X, Warshauer DH, Seah LH, et al.
    Forensic Sci Int Genet, 2018 09;36:60-76.
    PMID: 29935396 DOI: 10.1016/j.fsigen.2018.06.005
    The use of single nucleotide polymorphisms (SNPs) in forensic genetics has been limited to challenged samples with low template and/or degraded DNA. The recent introduction of massively parallel sequencing (MPS) technologies has expanded the potential applications of these markers and increased the discrimination power of well-established loci by considering variation in the flanking regions of target loci. The ForenSeq Signature Preparation Kit contains 165 SNP amplicons for ancestry- (aiSNPs), identity- (iiSNPs), and phenotype-inference (piSNPs). In this study, 714 individuals from four major populations (African American, AFA; East Asian, ASN; US Caucasian, CAU; and Southwest US Hispanic, HIS) previously reported by Churchill et al. [Forensic Sci Int Genet. 30 (2017) 81-92; DOI: https://doi.org/10.1016/j.fsigen.2017.06.004] were assessed using STRait Razor v2s to determine the level of diversity in the flanking regions of these amplicons. The results show that nearly 70% of loci showed some level of flanking region variation with 22 iiSNPs and 8 aiSNPs categorized as microhaplotypes in this study. The heterozygosities of these microhaplotypes approached, and in one instance surpassed, those of some core STR loci. Also, the impact of the flanking region on other forensic parameters (e.g., power of exclusion and power of discrimination) was examined. Sixteen of the 94 iiSNPs had an effective allele number greater than 2.00 across the four populations. To assess what effect the flanking region information had on the ancestry inference, genotype probabilities and likelihood ratios were determined. Additionally, concordance with the ForenSeq UAS and Nextera Rapid Capture was evaluated, and patterns of heterozygote imbalance were identified. Pairwise comparison of the iiSNP diplotypes determined the probability of detecting a mixture (i.e., observing ≥ 3 haplotypes) using these loci alone was 0.9952. The improvement in random match probabilities for the full regions over the target iiSNPs was found to be significant. When combining the iiSNPs with the autosomal STRs, the combined match probabilities ranged from 6.40 × 10-73 (ASN) to 1.02 × 10-79 (AFA).
    Matched MeSH terms: Continental Population Groups/genetics*
  13. Yen WC, Shariff ZM, Adznam SN, Sulaiman N, Siew CY
    Asia Pac J Clin Nutr, 2018 7 27;27(4):886-892.
    PMID: 30045435 DOI: 10.6133/apjcn.072017.02
    BACKGROUND AND OBJECTIVES: Information on the growth status of indigenous children is useful for developing intervention strategies, but the data are limited. This study determined the prevalence of undernutrition among under-five indigenous children (Orang Asli) and tracked the growth status of Orang Asli children aged 0-3 years.

    METHODS AND STUDY DESIGN: This study had two phases: a cross-sectional growth study of under-five Orang Asli children (N=304; Phase 1) and a 2-year prospective cohort growth study of Orang Asli children aged 0-3 years (N=214; Phase 2) in the Temerloh district of Pahang, Malaysia. Weight-for-age, length/height-for-age, weight-for-length/height, and body mass index-for-age were determined.

    RESULTS: The prevalence rates of stunting, underweight, wasting, and thinness in under-five Orang Asli children (Phase 1) were 64%, 49%, 14%, and 12%, respectively. In the cohort of 214 children (Phase 2), weight-for-age was initially documented and maintained closely at -1.50 standard deviations (SD) in the first 6 months, but it declined to approximately -2.00 SD at 15 months and remained close to -2.00 SD thereafter. Length/height-for-age declined rapidly to approximately -2.50 SD at 18 months and fluctuated between -2.30 and -2.50 SD thereafter. Weight-for-length/height increased sharply to -0.40 SD at 2-3 months, declined gradually to less than -1.00 SD at 12 months, and plateaued between -1.00 and -1.30 SD thereafter.

    CONCLUSIONS: Undernutrition is prevalent among Orang Asli children, with length rather than weight faltering being more pronounced in the first 2 years of life. Identifying the causes of early growth retardation in this population is required to inform future preventive strategies.

    Matched MeSH terms: Population Groups
  14. Fu R, Mokhtar SS, Phipps ME, Hoh BP, Xu S
    Eur J Hum Genet, 2018 06;26(6):886-897.
    PMID: 29476164 DOI: 10.1038/s41431-018-0120-8
    Copy number variations (CNVs) are genomic structural variations that result from the deletion or duplication of large genomic segments. The characterization of CNVs is largely underrepresented, particularly those of indigenous populations, such as the Orang Asli in Peninsular Malaysia. In the present study, we first characterized the genome-wide CNVs of four major native populations from Peninsular Malaysia, including the Malays and three Orang Asli populations; namely, Proto-Malay, Senoi, and Negrito (collectively called PM). We subsequently assessed the distribution of CNVs across the four populations. The resulting global CNV map revealed 3102 CNVs, with an average of more than 100 CNVs per individual. We identified genes harboring CNVs that are highly differentiated between PM and global populations, indicating that these genes are predominantly enriched in immune responses and defense functions, including APOBEC3A_B, beta-defensin genes, and CCL3L1, followed by other biological functions, such as drug and toxin metabolism and responses to radiation, suggesting some attributions between CNV variations and adaptations of the PM groups to the local environmental conditions of tropical rainforests.
    Matched MeSH terms: Population Groups
  15. Goh KL
    J Gastroenterol Hepatol, 2018 Jun;33(6):1177-1184.
    PMID: 29498759 DOI: 10.1111/jgh.14131
    The study of Helicobacter pylori in Malaysia has given several important insights into the epidemiology of the infection and pathogenesis of disease. Malaysia has a multiracial Asian population with three major Asian races living together-Malay, Chinese, and Indian. Races remain fairly distinct because of a paucity of interracial marriages. The "Racial Cohort Hypothesis" proposes that the infection occurs within racial groups rather than between. As such, the high prevalence among Indians (> 50%) and Chinese (40-50%) reflects the high prevalence in their countries of origin even though migration had taken place more than two generations before. The Malays have a comparatively low prevalence of about 10-20%. Despite the high prevalence of H. pylori, the Indians have a low gastric cancer incidence of less than 10 per 100 000 per year. This is in contrast to the Chinese who has an incidence in excess of 20 per 100 000 per year. We have called this the "Indian Enigma." The reason for this enigma is unclear and is the result of interaction between bacterial virulence factors, host susceptibility, and environmental factors. Phylogenetically, Chinese bacterial strains are distinct from Indians and Malays and are predominantly hpEastAsia/hsp EAsia. CagA EPIYA motifs among Chinese belong predominantly to the more virulent ABD motif. There is no clear distinguishing profile among host genetic factors. Environmental factors particularly diet may play an important role. Indians consume chilies and curries, which may be gastro protective, whereas Chinese consume more preserved and salted foods, which are thought to be carcinogenic.
    Matched MeSH terms: Continental Population Groups*
  16. Kruszka P, Porras AR, de Souza DH, Moresco A, Huckstadt V, Gill AD, et al.
    Am J Med Genet A, 2018 05;176(5):1128-1136.
    PMID: 29681090 DOI: 10.1002/ajmg.a.38672
    Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention given to other ethnicities. In this study, individuals with WBS from diverse populations were assessed clinically and by facial analysis technology. Clinical data and images from 137 individuals with WBS were found in 19 countries with an average age of 11 years and female gender of 45%. The most common clinical phenotype elements were periorbital fullness and intellectual disability which were present in greater than 90% of our cohort. Additionally, 75% or greater of all individuals with WBS had malar flattening, long philtrum, wide mouth, and small jaw. Using facial analysis technology, we compared 286 Asian, African, Caucasian, and Latin American individuals with WBS with 286 gender and age matched controls and found that the accuracy to discriminate between WBS and controls was 0.90 when the entire cohort was evaluated concurrently. The test accuracy of the facial recognition technology increased significantly when the cohort was analyzed by specific ethnic population (P-value 
    Matched MeSH terms: Population Groups
  17. Sacks-Davis R, Doyle JS, Rauch A, Beguelin C, Pedrana AE, Matthews GV, et al.
    J Int AIDS Soc, 2018 04;21 Suppl 2:e25051.
    PMID: 29633559 DOI: 10.1002/jia2.25051
    INTRODUCTION: There is currently no published data on the effectiveness of DAA treatment for elimination of HCV infection in HIV-infected populations at a population level. However, a number of relevant studies and initiatives are emerging. This research aims to report cascade of care data for emerging HCV elimination initiatives and studies that are currently being evaluated in HIV/HCV co-infected populations in the context of implementation science theory.

    METHODS: HCV elimination initiatives and studies in HIV co-infected populations that are currently underway were identified. Context, intervention characteristics and cascade of care data were synthesized in the context of implementation science frameworks.

    RESULTS: Seven HCV elimination initiatives and studies were identified in HIV co-infected populations, mainly operating in high-income countries. Four were focused mainly on HCV elimination in HIV-infected gay and bisexual men (GBM), and three included a combination of people who inject drugs (PWID), GBM and other HIV-infected populations. None were evaluating treatment delivery in incarcerated populations. Overall, HCV RNA was detected in 4894 HIV-infected participants (range within studies: 297 to 994): 48% of these initiated HCV treatment (range: 21% to 85%; within studies from a period where DAAs were broadly available the total is 57%, range: 36% to 74%). Among studies with treatment completion data, 96% of 1109 initiating treatment completed treatment (range: 94% to 99%). Among those who could be assessed for sustained virological response at 12 weeks (SVR12), 1631 of 1757 attained SVR12 (93%, range: 86% to 98%).

    CONCLUSIONS: Early results from emerging research on HCV elimination in HIV-infected populations suggest that HCV treatment uptake is higher than reported levels prior to DAA treatment availability, but approximately half of patients remain untreated. These results are among diagnosed populations and additional effort is required to increase diagnosis rates. Among those who have initiated treatment, completion and SVR rates are promising. More data are required in order to evaluate the effectiveness of these elimination programmes in the long term, assess which intervention components are effective, and whether they need to be tailored to particular population groups.

    Matched MeSH terms: Population Groups
  18. Kalok A, Zabil SA, Jamil MA, Lim PS, Shafiee MN, Kampan N, et al.
    J Obstet Gynaecol, 2018 Apr;38(3):339-343.
    PMID: 29017359 DOI: 10.1080/01443615.2017.1355896
    This was a prospective observational study to determine the predictive factors for a successful vaginal birth after caesarean section (VBAC) and to develop a relevant antenatal scoring system. Patients with one previous caesarean section were included in this study. All data including maternal demographics, obstetric history, pregnancy progress and outcomes were collected and analysed. A total of 142 out of the 186 women (76.3%) had successful VBAC. History of previous vaginal delivery and non-recurrent indications for previous caesarean section were the significant predictive factors for a successful VBAC. Five variables for our scoring tool were selected. By using a proposed mean score of 4 out of 7, the scoring system had a sensitivity of 81.0%, specificity of 52.3% and a positive predictive value of 84.6%. VBAC antenatal scoring system was potentially a useful predictive tool in antenatal counselling. Impact statement What is already known on this subject: Planned vaginal birth after caesarean section (VBAC) is an important strategy to limit the overall caesarean section rate, which is related to maternal morbidities. However, trial of vaginal delivery does involve potential complications including scar dehiscence, postpartum haemorrhage and emergency hysterectomy. What the results of this study add: Clinical predictors of a successful VBAC include non-recurrent indications for the previous caesarean section, previous vaginal delivery, spontaneous onset of labour and birthweight less than 4kg. There were multiple screening tools developed to predict the likelihood of successful VBAC. These scoring systems involved various variables such as age, ethnicity, Bishop's score and previous caesarean indication. We had prospectively developed an antenatal scoring system based on five variables. Our result showed that patient with a score of four and above will have around 85% chance of successful VBAC. What the implications are of these findings for clinical practice and/or further research: We have also found that, estimated foetal weight based on ultrasound scan is a potential predictor for successful VBAC. This simple scoring method will be useful in-patient counselling regarding mode of delivery after one previous caesarean section. A multicentre study involving large cohort of patients is ideal to validate our scoring system.
    Matched MeSH terms: Continental Population Groups
  19. Jaschhof M, Jaschhof C
    Zootaxa, 2018 Feb 15;4379(4):529-538.
    PMID: 29689964 DOI: 10.11646/zootaxa.4379.4.5
    A new genus of Winnertziini (Cecidomyiidae: Winnertziinae) named Bernadottea gen. nov. is introduced to absorb four new species from various different parts of the Old World: B. natalensis sp. nov. from South Africa, B. honshuensis sp. nov. from Japan, and B. pahangensis sp. nov. and B. selangorensis sp. nov. from Malaysia. Bernadottea are distinguished from previously known Winnertziini by the unusually complex genitalia of males, and from most members of this tribe by the absence of the fourth medial vein (M4). Another feature of Bernadottea is their rare occurrence in samples of Winnertziini taken by hand or by traps, a circumstance presumably expressing their scarcity in nature, at least at ground level. The new taxa are described based on the morphology of males, while females and larvae remain unknown.
    Matched MeSH terms: Population Groups
  20. Hor JY, Lim TT, Chia YK, Ching YM, Cheah CF, Tan K, et al.
    Mult Scler Relat Disord, 2018 Jan;19:20-24.
    PMID: 29100047 DOI: 10.1016/j.msard.2017.10.015
    BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) occurs worldwide in all ethnicities. Recently, population-based studies have shown that NMOSD is more common among non-White populations. There is scarce data about NMOSD prevalence in South East Asian populations.

    METHODS: (1) A population-based study was undertaken to estimate NMOSD prevalence in the multi-ethnic Penang Island, Malaysia, comprising Chinese, Malays, and Indians. Medical records of NMOSD patients followed up at the Penang General Hospital (the neurology referral centre in Penang Island) were reviewed. The 2015 diagnostic criteria of the International Panel for NMO Diagnosis were used for case ascertainment. (2) A review of population-based prevalence studies of NMOSD worldwide was carried out. PubMed and conference proceedings were searched for such studies.

    RESULTS: Of the 28 NMOSD patients, 14 were residents of Penang Island on prevalence day [13 (93%) Chinese and one (7%) Malay]. All 14 patients were females and aquaporin 4 seropositive. The prevalence of NMOSD in Penang Island was 1.99/100,000 population; according to ethnicities, the prevalence in Chinese was significantly higher than in Malays (3.31/100,000 vs 0.43/100,000, respectively, p = 0.0195).

    CONCLUSION: Based on our and other population-based studies, among Asians, East Asian origin populations (Chinese and Japanese) appear to have higher NMOSD prevalence than other Asian ethnic groups. Worldwide, Blacks seem to have the highest NMOSD prevalence. More studies in different geographical regions and ethnic groups will be useful to further inform about potential factors in NMOSD pathogenesis.

    Matched MeSH terms: Continental Population Groups/ethnology*
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