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Antiphospholipid syndrome (APS) is an acquired coagulopathy associated with the presence of antiphospholipid antibodies. Whether ethnicity modulates APS clinical course is not known. The aim of our study was to assess the interplay of ethnicity and APS in Israel.We retrospectively evaluated the ethnic distribution of APS patients from 3 medical centers in Israel compared to the general population. Ethnic groups were defined according to the Israeli Bureau of Statistics as Ashkenazi (European), former Union of Soviet Socialist Republics (USSR), North African, Asian (West Asia, Greece, and Turkey), Israeli Arab individuals, and others.Our cohort included 382 patients. The prevalence of Ashkenazi and Asian ethnicities was more pronounced (33% versus 12.8% and 15.4% versus 7.7%, respectively; P 0.001), while Israeli Arabs were less represented (5.2% versus 31.1%; P 0.001) relative to their part in the general population. Arab patients were younger at presentation (mean ± SD 28 ± 10 years versus 34 ± 13 years; P 0.001) and were more likely to present with venous thrombosis (50% versus 35%; P = 0.037) and to suffer from venous thrombotic recurrence (45% versus 16%; P 0.001) compared to other ethnicities. Mortality was higher among patients of Asian ethnic origin (8.8% versus 1.1%; P = 0.005); intriguingly, this group experienced cardiovascular risk factors more often (i.e., dyslipidemia and hypertension).Ethnicity may affect the prevalence and/or natural course of APS, which is less prevalent and differs clinically in Israeli Arab patients, while mortality was linked with Asian ethnicity.

Background Individuals vary in their temperature and pungency preferences; whereas some individuals prefer to bath in, or consume food and beverages at very high temperatures, others prefer lukewarm temperatures. Similarly, pungent food may be preferred by some, but not by others. The aim was to investigate, for the first time whether temperature and pungency preferences are associated with variations in thermal sensitivity or ethnic origin related to pungency consumption. Methods 115 healthy volunteers participated. The thresholds for warm (WST) and heat-pain (HPT) sensations were measured over the tongue and dorsal hand, and the participants' preferred drinking and bath temperatures were measured. In addition, data on the participants' ethnic background as well as temperature and pungency preferences and household habits regarding eating, drinking and bathing were collected. Results The reported drinking and bathing preferences correlated significantly with the measured drinking and bath temperatures, respectively, validating subjects' reports. Tongue and hand HPT, but not WST, correlated with both the reported and the measured drinking and bathing preferences, as well as with pungency preferences. Neither ethnic origin nor gender affected HPT or temperature preferences; however, males preferred a greater level of spiciness than females. Conclusions The association of the reported and measured preferences with noxious heat sensitivity in both relevant and irrelevant body regions, and lack of an ethnicity effect may suggest that these qualities are innate. The association of HPT and spiciness preferences correspond with the mutual activation of the tongue vanilloid receptors by noxious heat and capsaicin. Significance People vary with regard to their temperature and spiciness preferences for reasons yet unknown. The study revealed that these preferences correlate with one another and were associated with the sensitivity to noxious heat but not with age, gender and cultural background, which suggests that they may be innate.

Background Asian Americans are understudied in the literature on alcohol, due to data limitations and the perception that they are at low risk for alcohol misuse. Yet, certain subpopulations-such as college students-may be at higher risk. The current study examined longitudinal change in alcohol use and motivations for drinking among Asian American students. We tested for differences by nativity status, ethnic origin, and gender and examined whether motivations covaried with alcohol use. Methods Asian American first-year college students (N = 199, 45.7% female, 37.7% foreign-born) attending a US university were identified through stratified random sampling using registrar information. For 7 consecutive semesters, students completed online surveys about their behaviors and beliefs. Results Multilevel models demonstrated that alcohol use and alcohol-related motivations increased over time. US-born students consistently consumed more alcoholic drinks, reached higher peak drinking levels, and drank more frequently than foreign-born students; however, motivations did not differ by nativity status. Chinese American students consumed less alcohol, drank less, and were more motivated to avoid alcohol-related consequences than students of other/multiple heritage ethnic origins. Each motivation subscale was associated with alcohol use at the between-person level. Likewise, within-person variability in motivations was linked to variability in drinking across semesters. Controlling for other motivations, drinking for fun emerged as the strongest correlate of alcohol use variability. Conclusions Alcohol misuse was highest among US-born students and those with higher motivations for drinking. Furthermore, alcohol use varied in tandem with motivations, suggesting that motivations may be a useful intervention target among this population.

Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease, mainly occurring in the eastern Mediterranean. In these populations, the five FMF founder mutations are differently distributed. In Algeria, the FMF-causing variants remain poorly explored. This retrospective study aims to report the mutational profile of Algerian FMF patients and to compare it with North African FMF patients. One hundred eighty-three unrelated patients clinically suspected of FMF were recruited from various Algerian hospitals (2007-2015) and tested for mutations in exon 10 of MEFV gene. Molecular analysis identified 144 mutant alleles among 87 of 183 patients (47.5%). p.M694I was the most prevalent pathogenic allele, accounting for 63.2% of mutant alleles, followed by p.M694V and p.M680I occurring with a same frequency (14.5%). Others, p.A744S (6.2%) and p.I692del (1.3%), are less frequent. Interestingly, p.M694I was the most recurrent in patients with renal AA-amyloidosis. Our results provide the first genetic data on FMF in Algeria, demonstrating the predominance of p.M694I and the absence of p.V726A, compared to other North African countries (Morocco, Tunisia, and Egypt). In conclusion, North African FMF patients display differential mutational profiles that may result from the difference in ethnic origin and the genetic heterogeneity among these populations.

Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. AS occurs occasionally among population outside the northeastern Quebec-Saguenay-Lac- St-Jean and Charlevoix regions, inhabited by French Canadians. None of the described patients were of Roma ethnic origin. We present an 8-month-old infant of Roma ethnic origin with AS, caused by a novel frame shift mutation c.2604delT,p.(Asp868GlufsTer11) in exon 20 of SLC12A6 gene. Our case presented with several atypical findings: clinical presentation resembling "spinal muscular atrophy plus" syndrome; tongue fasciculations, which are not reported in the literature; early contractures of the wrists; normal motor action potentials and preserved sensory action potentials. Our patient is the first of Roma origin from nonconsanguineous parents, which suggests that this mutation might be widespread in the Roma population, although screening for this mutation in 140 alleles from Roma individuals originating from the same geographic region did not reveal further carriers, implying the mutation is rare. We recommend that Roma patients presenting with the clinical phenotype of AS should be tested for this mutation primarily.

Aim: The Townsville Hospital cares for babies in a large geographical area, many of who are outborn, are of Aboriginal or Torres Strait Islander origin and have families who reside in areas of deprivation. This study examined the outcomes of babies born at all locations in North Queensland to assess the predictors of poor outcomes. Methods: A retrospective observational study examined the survival of 313 babies born from 22 completed weeks gestation to 27 + 6 weeks gestation in North Queensland between January 2010 and December 2016. Additional analyses were performed for the 300 non-syndromal babies whose mothers usually resided in North Queensland, studying demographics of gestation, gender, birthweight, Indigenous status, regionality of maternal residence and adequacy of antenatal steroids. Short-term morbidities of intraventricular aemorrhage/periventricular leukomalacia (IVH/PVL), surgical necrotizing enterocolitis, retinopathy of prematurity requiring treatment and chronic lung disease and death were studied in relation to demographic factors and clinical treatment. Results: Adequacy of steroids was significantly associated with a decreased mortality odds ratio of 2.872 (95% confidence interval 1.228–6.715), whilst no difference in outcome was seen by retrieval status or ethnic origin. Babies from remote locations were at increased risk for IVH/PVL, 2.334 (1.037–5.255). Male babies suffered more chronic lung disease, 1.608 (1.010–2.561), and IVH/PVL, 2.572 (1.215–5.445). Aboriginal and Torres Strait Islander babies were at lower risk of IVH/PVL. Conclusions: Steroids should be administered wherever there is any possibility of the provision of intensive care for periviable babies. Place of birth and ethnicity of mother should not unduly influence antenatal counselling.

Objective To investigate the influence of ethnicity, fetal gender and placental dysfunction on birth weight (BW) in term fetuses of South Asian and Caucasian origin. Methods This was a retrospective study of 627 term pregnancies assessed at two public tertiary hospitals in Spain and Sri Lanka. All fetuses underwent biometry and Doppler examinations within 2 weeks of delivery. The influences of fetal gender and ethnicity, gestational age (GA) at delivery, cerebroplacental ratio (CPR) and maternal age, height, weight and parity on BW were evaluated by multivariable regression analysis. Results Fetuses born in Sri Lanka were smaller than those born in Spain (mean BW = 3026 ± 449 g vs 3295 ± 444 g; P

Ancestry inference based on SNPs with marked allele frequency differences in diverse populations (called ancestry-informative SNP (AISNP)) is rapidly developed with the technology advancements of massively parallel sequencing. Despite the decade of exploration and broad public interest in the peopling of East-Asians, the genetic landscape of Chinese Silk Road populations based on the AISNPs is still little known. In this work, 206 unrelated individuals from Chinese Uyghur and Hui populations were firstly genotyped by 165 AISNPs (The Precision ID Ancestry Panel) using the Ion Torrent Personal Genome Machine system. The ethnic origin of two investigated populations and population structures and genetic relationships were subsequently investigated. The 165 AISNPs panel not only can differentiate Uyghur and Hui populations but also has potential applications in individual identification. Comprehensive population comparisons and admixture estimates demonstrated a predominantly higher European-related ancestry (36.30%) in Uyghurs than Huis (3.66%). Overall, the Precision ID Ancestry Panel can provide good resolution at the intercontinental level, but has limitations on the genetic homogeneous populations, such as the Hui and Han. Additional population-specific AISNPs remain necessary to get better-scale resolution within geographically proximate populations in East Asia.

Introduction Laboratory reference ranges are essential for diagnostic orientation and treatment decision. As complete blood count parameters are influenced by various factors, including gender, geographic origin, and ethnic origin, it is important to establish specific hematologic reference values for specific populations. Methods This study was conducted at the Department of Clinical Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Blood samples were taken from healthy adults aged 18-60 years that attended a health check-up program at our hospital during February 2015 to July 2015. Hematologic and routine chemistry analysis were performed. Participants were determined to be healthy based on medical history and routine medical examinations. Serum vitamin B12, folate, ferritin, and hemoglobin typing were also analyzed to exclude the possible presence of anemia. Results A statistically significant difference was observed between males and females for Hb level, hematocrit level, red blood cell count, mean corpuscular hemoglobin concentration, percentage neutrophils, monocytes and eosinophils, and absolute neutrophil, lymphocyte, basophil, and platelet counts. Accordingly, gender-specific reference intervals were established for all complete blood count parameters in healthy Thai adult population. Conclusions The reference value ranges established in this study reflect significant differences between genders. It is possible that these reference ranges may be generalizable to adults living in Thailand. The findings of this study emphasize the importance of establishing specific hematologic reference values for specific populations.

Huntington disease (HD) is the most common monogenic neurodegenerative disorder in populations of European ancestry, but occurs at lower prevalence in populations of East Asian or black African descent. New mutations for HD result from CAG repeat expansions of intermediate alleles (IAs), usually of paternal origin. The differing prevalence of HD may be related to the rate of new mutations in a population, but no comparative estimates of IA frequency or the HD new mutation rate are available. In this study, we characterize IA frequency and the CAG repeat distribution in fifteen populations of diverse ethnic origin. We estimate the HD new mutation rate in a series of populations using molecular IA expansion rates. The frequency of IAs was highest in Hispanic Americans and Northern Europeans, and lowest in black Africans and East Asians. The prevalence of HD correlated with the frequency of IAs by population and with the proportion of IAs found on the HD-associated A1 haplotype. The HD new mutation rate was estimated to be highest in populations with the highest frequency of IAs. In European ancestry populations, one in 5,372 individuals from the general population and 7.1% of individuals with an expanded CAG repeat in the HD range are estimated to have a molecular new mutation. Our data suggest that the new mutation rate for HD varies substantially between populations, and that IA frequency and haplotype are closely linked to observed epidemiological differences in the prevalence of HD across major ancestry groups in different countries.

Stress fractures (SF) are common and costly injuries in military personnel. Risk for SF has been shown to vary with race/ethnicity. Previous studies report increased SF risk in white and Hispanic Soldiers compared with black Soldiers. However, these studies did not account for the large ethnic diversity in the US military. We aimed to identify differences in SF risk among racial/ethnic groups within the US Army. A retrospective cohort study was conducted using data from the Total Army Injury and Health Outcomes Database from 2001 until 2011. SF diagnoses were identified from ICD-9 codes. We used Cox-proportional hazard models to calculate time to SF by racial/ethnic group after adjusting for age, education, and body mass index. We performed a sex-stratified analysis to determine whether the ethnic variation in SF risk depends on sex. We identified 21,549 SF cases in 1,299,332 Soldiers (more than 5,228,525 person-years of risk), revealing an overall incidence rate of 4.12 per 1000 person-years (7.47 and 2.05 per 1000 person-years in women and men, respectively). Using non-Hispanic blacks as the referent group, non-Hispanic white women had the highest risk of SF, with a 92% higher risk of SF than non-Hispanic black women (1.92 [1.81-2.03]), followed by American Indian/Native Alaskan women (1.72 [1.44-1.79]), Hispanic women (1.65 [1.53-1.79]), and Asian women (1.32 [1.16-1.49]). Similarly, non-Hispanic white men had the highest risk of SF, with a 59% higher risk of SF than non-Hispanic black men (1.59 [1.50-1.68]), followed by Hispanic men (1.19 [1.10-1.29]). When examining the total US Army population, we found substantial differences in the risk of stress fracture among racial/ethnic groups, with non-Hispanic white Soldiers at greatest risk and Hispanic, American Indian/Native Alaskan, and Asian Soldiers at an intermediate risk. Additional studies are needed to determine the factors underlying these race- and ethnic-related differences in stress fracture risk. © 2017 American Society for Bone and Mineral Research.

Objective To study the epidemiology and clinical characteristics of Takayasu arteritis (TAK) in southeast Norway (population 2.8 million). Methods All study area hospital databases were screened to capture every potential TAK case between 1999 and 2012. These cases were manually chart reviewed, and only patients fulfilling either the 1990 American College of Rheumatology classification or the 1995 Ishikawa diagnostic criteria were included. Results Inclusion criteria were met by 78 patients (68 female, 10 male). Point prevalence (by 2012) segregated by ethnic origin was 22.0 per 106 (95% confidence interval [95% CI] 17–29) in northern Europeans compared to 78.1 (95% CI 38–152) in Asian whites and 108.3 (95% CI 46–254) in Africans (P

Objective The aim of this study was to determine the distribution and origin of hemoglobin E (HbE) in seven minority groups from various geographical regions of the malaria-endemic Yunnan province, southwestern China, which have similar ethnic origins and geographic relationships with HbE-prevalent populations of Southeast Asian countries. Methods By using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) methods, the prevalence of HbE was examined in 1488 individuals from seven native minority groups of Yunnan, and β-globin gene cluster haplotypes were determined on 1420 chromosomes. Results The prevalence of HbE in the study populations ranged from 1.5 to 39.1%. Higher HbE prevalence was correlated with the minority groups of Tibeto-Burman origin and groups from the Dehong district. The βE–globin genes in Yunnan were mostly associated with three haplotypes [−+++++−], [+−−−−+−], and [−+−+++−] on chromosomes with gene framework 2. Interestingly, the predominant βE associated haplotype in Yunnan minorities was remarkably different from that in other previously reported populations. This study, for the first time, reports population-based data on the heterogeneity of HbE gene frequencies and haplotype distribution in native minorities from southwestern China. Conclusions Natural selection based on the presence of malaria, ethnic origin, and epistatic interactions may be factors of varying importance for the remarkable variation in HbE frequency among these minority groups. In addition, there appears to be a common origin of the βE -globin gene in populations from Yunnan and Southeast Asia. Am. J. Hum. Biol., 2016. © 2016 Wiley Periodicals, Inc.

The aim of the present study was to assess the prevalence of hepatitis B surface antigen among pregnant women in Varna Region, Bulgaria. During the period 2009-2013, an average prevalence of 2.26% (95%CI 1.75, 2.91) was measured in a total number of 2,700 samples. Analysis demonstrated that rural residence and minority ethnic origin are important risk factors for hepatitis B infection among pregnant women with hazard ratios of 2.40 (95%CI 1.46, 3.94), and 2.43 (95%CI 1.46, 4.05) when compared with urban residence and ethnic majority origin, respectively. J. Med. Virol. 88:2012-2015, 2016. © 2016 Wiley Periodicals, Inc.

Evidence from several countries has shown the over-representation of racial/ethnic minority groups in child protection services (CPS). The objective of the present study was to explore whether racial/ethnic and socio-economic biases influence Spanish CPS caseworkers' judgements of the severity of child maltreatment. Moreover, the study attempted to explore the influence on these judgements of the use of structured instruments and professional experience. Two case vignettes of child maltreatment were presented to 405 CPS caseworkers and 169 students of social work and psychology. Family ethnic origin and income were manipulated in the vignettes. The findings showed no statistical evidence of biases related to family ethnic origin or socio-economic status (SES) in Spanish CPS caseworkers' judgements of maltreatment severity. Biases related to family SES were found for students for the vignettes of physical abuse. CPS caseworkers and students who did not use a structured instrument to assess maltreatment severity tended to underestimate the severity for the vignettes of parental incapacity to control child/adolescent behaviour and to overestimate it for the vignettes of physical abuse. CPS caseworkers who used a structured instrument showed higher percentages of accuracy and inter-rater agreement, supporting the relevance of structured tools in reducing potential caseworkers' biases. Language: en

Background The aim is to investigate ethnic variation, in presentation and biometric parameters, within the population undergoing cataract surgery in Auckland. Design The design is a retrospective study. Participants Four thousand nine hundred thirty-one eyes of 3524 consecutive patients undergoing cataract surgery in Auckland Public Hospital over 18 months were included in the study. Methods Analysis of preoperative medical records was performed. Main Outcome Measures Age, gender, self-reported ethnicity, keratometry, anterior chamber depth, axial length and intraocular lens (IOL) power data were collected. Results Māori (4.7%) were under-represented compared with the proportion of Māori attending the eye clinic (5.5%) and in the major patient catchment area (8.2%). People of Māori, Pacific and Indian ethnicities presented at a significantly younger age (66.4, 65.9 and 67.9 years, respectively) than those of Caucasian and Asian ethnicities (76.4 and 71.3 years, respectively, P

Studies of the frequency of heterozygous carriers for common inherited diseases of haemoglobin in over 7500 adolescent children in 25 districts in Sri Lanka have disclosed a highly significant variation over very short geo- graphical distances. A further analysis of these findings, including their relationship to the past frequency and distribution of malaria, climatic vari- ation, altitude, ethnic origin and consanguinity rates, have provided evi- dence regarding the evolutionary basis for the variable distribution of these conditions over short distances. It is likely that the complex interplay between malaria and the environment, together with related ethnic and social issues, exists in many countries across the tropical belt. Hence, these observations emphasise the importance of micromapping heterozygote dis- tributions in high-frequency countries in order to define their true burden and the facilities required for the prevention and management of the homozygous and compound heterozygous disorders that result from their interaction.

Background Uterine leiomyoma is the most common pelvic tumor in women, but the actual prevalence is unknown. Objectives To review the literature on the prevalence of uterine leiomyoma, presenting symptoms, and medical management. Search strategy On April 1–30, 2014, a PubMed search for studies reported in English was conducted using the terms “uterine leiomyoma,” “prevalence,” and “symptoms.” Another search was performed using the terms “uterine leiomyoma” and “treatment.” Selection criteria All trial types other than internet-only studies were included. Animal studies were excluded from the prevalence/symptom review, but included in the medical management review. Data collection and analysis Prevalence rates were recorded on the basis of imaging modality, cohort studied, ethnic origin, and age. Main results Studies involving asymptomatic women revealed a trend in prevalence similar to that in symptomatic women, and showed that leiomyomas are more common in this cohort than previously recognized. Affected patients can present with many complaints, but no single symptom has been shown to be specific for this tumor. Various medical therapies are reviewed, summarizing efficacy and toxicity. Conclusions Further research needs to be conducted on the prevalence in asymptomatic women. Current and future medical management options provide promising results in symptom reduction.

Fetal measurements have been a contentious issue in ultrasound departments worldwide for decades. With a plethora of literature on measuring planes, mathematical formulae, local charts, and differences in fetal size due to various factors, deciding which charts to use can be confusing. Australia has not been immune to this issue. In 2001, ASUM recommended the use of the Campbell Westerway charts for CRL, BPD, OFD, HC, AC, FL & HL, which were formulated from an Australian population. Despite this recommendation, there are currently at least eight fetal growth charts in clinical use around Australia. 1 Unfortunately, it is not uncommon to find different charts on different machines within the same department, which is confusing for follow‐up growth studies, and affects parents, clinicians and researchers alike. For example, a baby diagnosed as small for gestational age (SGA) by one practitioner is later that day found to be ‘normal’ with a different reference chart at the referral hospital. This makes counselling challenging: why does this difference exist? Is it due to the chart or the quality of scanning? Is the baby at risk or not? The issue illustrates the problem of a lack of uniform ultrasound reporting, which may be particularly noticeable in countries like Australia where scans are commonly performed in small private practices. In general terms, fetal growth can be assessed using charts that are: 1 Derived from the observed distributions of fetal size for gestational age in a defined population 2 Customised on the basis of maternal characteristics such as maternal parity, height and ethnicity including an estimate of fetal weight based on Hadlock's proportionality equation 3 Standards derived from a healthy population purposely selected to reflect optimal growth, based on observed measurements of fetuses that are free from adverse constraints on growth and which are independent of time or place. SGA is most commonly defined as the 10th centile of estimated fetal weight (EFW) or abdominal circumference (AC). It must be realised that the apparent ‘prevalence’ of SGA will always be close to the 10th centile when reference or customised charts are used. This is despite the fact that the prevalence of other perinatal conditions differs greatly around the world: for example, differences in rates of pre‐eclampsia or gestational diabetes are readily accepted, without a call for local definitions, demonstrating the illogical nature of insisting on an SGA prevalence that is “fixed” at 10%. So which fetal biometry charts should be used from the hundreds available around the world? After over five decades of obstetric ultrasound there has been no implementation of an international standard. Contrast this with the consensus on optimal growth in paediatrics. Since the 1970s, it has been observed that growth in children depends more on their environment and nutritional state, than ethnic origin. 2 In 1996, the WHO Multicentre Growth Reference Study (MGRS) was established to prove whether this hypothesis was indeed correct for babies born in diverse populations around the world. Across six countries, researchers followed the growth and development of 8406 healthy, breast‐fed babies until 5 years of age. 3 They demonstrated that, under such conditions, growth was remarkably similar in childhood. 4 This led to the release of the WHO Child Growth Standards in 2006 and these have subsequently been adopted in over 130 countries. 5 In Australia, national unification of child growth monitoring occurred in 2012, when the NHMRC recommended the WHO Child Growth Standards for use in all infants aged 0 to 2 years of age. 6 The current situation in fetal medicine Identifying babies experiencing poor or excessive growth in utero is challenging. Despite ASUM recommending the Campbell Westerway charts in 2000,7 there has been no consensus on fetal growth monitoring, no publication of an ‘Australian standard’, and consequently several charts have been used. For most practitioners, the choice of fetal growth chart is determined either by their institutional protocol, professional society, imaging software program, or the default chart installed by the ultrasound machine manufacturer. However, charts differ greatly not only in the centile thresholds and trajectories, but also the quality of the studies upon which they were based: two comprehensive systematic reviews evaluated the quality of published ultrasound charts for fetal dating with crown‐rump length 8 and fetal growth monitoring. 9 Across the 112 studies identified, there were several important potential sources of methodological bias including: failure to define gestational age accurately; inconsistent population definitions and inclusion and exclusion criteria; lack of image standardisation protocols, and retrospective analysis of images captured for clinical purposes. This resulted in a large amount of variation in centile thresholds when different charts were used: for example, the 10th centile for AC at 36 weeks' gestation ranged from 276 to 292 mm even among the best studies. Open in a separate window Figure 1 Abdominal circumference.

Background The literature on paroxysmal nocturnal hemoglobinuria (PNH) in aplastic anemia (AA) is largely focused on adults with few studies in children. Moreover, large studies are conspicuously absent from developing countries. Knowledge of the prevalence and utility of their detection is required before widespread use of PNH screening in pediatric AA in resource-limited settings. Methods We performed a retrospective audit over a period of 9 years to study the prevalence of PNH clones by flow cytometry (FCM) in children ≤12 years of age presenting with AA, and analyzed their response to immunosuppressant therapy. Results Nine (12.9%) out of 70 patients had PNH clones comprising >1% of the target cell population, including five patients (7.14%) with PNH clone size >10%. The clone size in monocytes ranged from 3.7% to 95.2% (median 21.1%) and in neutrophils from 1.6% to 87.6% (median 19.5%). Fluorescent aerolysin (FLAER)-based FCM screening significantly improved the detection of PNH clones compared to non-FLAER based screening techniques (18.4% vs. 6.25%). One child showed chronic intravascular hemolysis and another developed arterial stroke during the course of illness. None of our PNH-positive AA patients tested for chromosome breakage studies (n = 8) showed increased clastrogen-induced breakage. Conclusions A lower frequency but moderate/large-sized PNH clones were seen in our pediatric AA population, compared to western data. FLAER-based FCM screening significantly improved the detection of PNH clones. We recommend routine FLAER-based screening of PNH in pediatric AA patients. Pediatr Blood Cancer 2015; 9999:XX–XX © 2015 Wiley Periodicals, Inc.

Background Although obesity has been associated with a higher risk for premature death, the sex and ethnic-origin specific body mass index (BMI) levels that are associated with increased mortality are controversial. We investigated the 40-year cumulative all-cause mortality, in relation to the BMI in adult life, among men and women originating from Yemen, Europe/America, Middle East and North Africa, using sex and ethnic-origin specific BMI cut points. Methods A random stratified cohort (n = 5710) was sampled from the central population registry and followed since 1969 for vital status. Weight, height and blood pressure were measured, and smoking status was recorded at baseline. BMI was analysed according to conventional categories and according to sex and ethnic-origin specific quintiles. Results Elevated and significant mortality hazard ratios (HRs) of 1.21 [95% confidence interval (CI) 1.00–1.45] for women and 1.22 (95%CI 1.03–1.44) for men were found for the highest origin-specific BMI quintile. In men, the lowest ethnic-origin specific quintile was also significantly associated with increased mortality (HR of 1.22 95% CI 1.03–1.45), adjusting for age, smoking and blood pressure. Obesity was associated with mortality in non-smokers (HR = 1.29, 95% CI 1.04–1.61 in men and HR = 1.46, 95% CI 1.19–1.79 in women), whereas leanness was associated with mortality only among smoking men (HR = 1.39, 95% CI 1.09–1.77). Conclusion Refinement of BMI categories using country of origin specific quintiles demonstrated significantly increased mortality in the upper quintile in both sexes, while according to the conventional values this association did not prevail in men. We propose the establishment of sex and origin-specific BMI categories when setting goals for disease prevention. Copyright © 2015 John Wiley & Sons, Ltd.

INTRODUCTION AND AIMS: This study examined prevalence of alcohol consumption among immigrants and the Canadian-born populations of Ontario by ethnic origin, and the association between ethnicity, country of birth, age at arrival, length of residence in Canada and drinking measures. DESIGN AND METHODS: Data were derived from the Centre for Addiction and Mental Health (CAMH) Monitor, a cross-sectional survey of Ontario adults, conducted between January 2005 and December 2010 (n = 13 557). RESULTS: The prevalence of alcohol consumption and risk drinking was generally lower among foreign-born than Canadian-born respondents, but significant variations across ethnic groups were found. In general, foreign-born respondents of European descent reported higher rates of alcohol use and risk drinking than foreign-born respondents from other ethnic groups. We also observed that ethnicity effects varied by whether or not respondents were born in Canada, and by the age at which they arrived in Canada. DISCUSSION AND CONCLUSIONS: While previous studies generally found an increase in immigrants' alcohol consumption with years in Canada, our data suggest that longer duration of residence may have either positive or negative effects on immigrants' alcohol use, depending on the country of origin/traditional drinking pattern. More research is needed to explore determinants of alcohol use and risk drinking among immigrants and to identify those groups at highest risk. [Agic B, Mann RE, Tuck A, Ialomiteanu A, Bondy S, Simich L, Ilie G. Drug Alcohol Rev 2015]. Language: en

Objective: To compare sun protection by Australian-born and migrant mothers of three-year-old children. Methods: Australian-born and migrant mothers taking part in the Environments for Healthy Living prospective birth-cohort study were asked standard questions about their child's sun protection. Children were given a skin cancer susceptibility score based on grandparents' ethnic origin. Logistic regression was used to estimate odds ratios (ORs) to measure the association of sun protection of children according to mothers' migrant status adjusted for socio-demographic characteristics. Results: A total of 613 Australian-born and 224 migrant mothers of three-year-old children were studied. Mothers who had migrated less than four years ago were more likely to allow their three-year-old to spend more than two hours outdoors between 10 am and 3 pm compared to Australian-born mothers (OR=2.80, 95%CI 1.20–6.57). Mothers from high latitude countries (>45 degrees) were more likely to apply sunscreen to their child than those from lower latitude countries (OR=3.15, 95%CI 1.03–9.61). Conclusions and implications: Strategies should aim to increase general awareness about the need for sun protection of young children, and recent migrants should be alerted to the harms of excessive sun exposure.

Introduction Previous studies of the association of the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism with antidepressant efficacy are inconsistent. Thus, we conducted a systematic review and meta-analysis. Methods We searched MEDLINE, PubMed, EMBASE, and Chinese Databases (Biomedical Literature Database, National Knowledge Infrastructure, Weipu, and WanFang) up to March 2013 for relevant studies (584 retrieved, 16 met inclusion criteria). We conducted six comparisons for both response and remission rates for three genotypes in Caucasians and Asians (4 weeks or ≥6 weeks; selective serotonin reuptake inhibitors [SSRIs], serotonin-noradrenaline reuptake inhibitors, or mixed antidepressants). Results Met carriers had a better response rate than Val/Val. In Asians, the Met carrier was positively associated with response rate (odds ratio; 95% confidence interval: 1.48; 1.02–2.14) in the SSRI group (1.81; 1.10–2.97) and with treatments ≥6 weeks. Met/Val showed a positive association with the response rate versus homozygotes (1.60; 1.20–2.13) and for ≥6 weeks (mixed antidepressant, 1.36; 1.04–1.77; SSRI, 1.55; 1.11–2.17). There was a weak effect of Met/Val versus Val/Val in response to SSRIs (mixed time, 2.07; 1.48–2.89; ≥6 weeks, 2.25; 1.53–3.32). For remission, Met/Val was better than the homozygotes (1.71; 1.09–2.68, Asians, SSRIs only). Discussion Our meta-analysis confirms the effects of the BDNF polymorphism on SSRI response in Asians. This effect may be dependent on ethnic origin because BDNF had a lesser influence on response in mixed race studies. Antidepressants were more effective in groups with a treatment duration ≥6 weeks. Thus, future investigators should carefully consider their outcome observation end point.

Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of poikiloderma and permanent neutropenia. Three common recurrent mutations of related gene, USB1, were considered to be associated with three different ethnic origins. The most common recurrent mutation, c.531delA, has been detected in seven Caucasian patients in the literature. In this paper, we present review of all patients from the literature and report two additional patients of Turkish ancestry with the diagnosis of PN. The diagnosis of these two PN patients were made clinically and confirmed by molecular analysis which detected the most common recurrent mutation, c.531delA. Genotype-ethnic origin correlation hypothesis, therefore, has been strengthened with this result. Short stature in PN, is a common finding, which until now has never been treated with growth hormone (GH). One of our patients is the first patient with attempted treatment of short stature via GH administration. Finally, both of our patients had high-pitched voice and vocal cord nodules which might be considered as additional clinical findings not associated with PN before. © 2014 Wiley Periodicals, Inc.

Objectives To assess:1) if HIV screening with rapid tests in neighbourhoods with a substantial African community is feasible and acceptable among GPs and patients; 2) HIV seroprevalence. Methods Multicenter prospective study with 10 trained physicians. Use of HIV standard test and INSTI Ultrarapid test. Inclusion criteria: MSM, sex worker, multiple sexual partners, having returned or coming from a country with high HIV prevalence, IVDU, Indicator conditions as defined by HIV Indicator Diseases across Europe Study, having an AIDS-defining illness, having had a recent pregnancy or abortion; or presenting other risks. Results From August 2010 to August 2011, 10 trained GPs offered an HIV test to 224 patients: 51% ♀, 48% ♂, 43% Caucasians, 45% Africans. Inclusion criteria: 32% ”high risk group”, 9% returning from an endemic country, 29% with an indicator condition; 12 patients (6%) refused the standard test. The INSTI was offered to 217(97%), 197 performed with 2 reactive rapid tests confirmed. The seroprevalence according to ethnic origin was 0% among Caucasians and 2.2% among Africans and was 1.5% among patients with an indicator condition. 1087 consecutive consultations of the same GPs were recorded: 42% patients had ≥1 inclusion criteria among which 41% of offered tests, that is to say 59% of “missed opportunities”. The reasons for not offering the test as recorded for 55% of patients:“not indicated” 44.5%, “no time” 33%, “impossible to propose” 15%, test completed previously 11%, known HIV-positive 4%. Conclusions Standard and rapid tests are well received by patients but were usually not offered by doctors who have been trained.

Purpose Our goal was to describe adolescent cancer incidence and survival in Israel, and to identify demographic and epidemiologic variations among adolescents with cancer. Patients and Methods We used data from the Israel National Cancer Registry in order to examine the incidence and survival of adolescent cancer in Israeli adolescents aged 15–19 years, diagnosed during the years 1998–2009. Cases were analyzed according to sex, ethnicity and geographical region, as well as comparison to other countries in the region and other western countries. Results Among the 1,532 new cases of adolescent cancer, there was a total incidence rate of 226 cases per million. The incidence rate for males was higher than for females (230 and 222, respectively) and higher for Jewish adolescents than for Arab adolescents (235 and 194, respectively). The largest groups were Lymphomas (69 per million), Malignant Epithelial Neoplasms (49 per million), and Leukemias (21 per million). We estimated the survival probability updated to December 2009, and calculated the 5-year survival for new cases until the end of 2004. The overall survival at 5 years was 78%, with 62% for the Arabic population and 81% for the Jewish population, dependent on the diagnosis. Conclusions The results of this study show little difference in the predominance of some adolescent cancers in comparison with other developed countries. This study may add more information for further investigation of the genetic and environmental factors that cause adolescent cancer in Israel. As well as delineate the genetic basis for ethnic origin disparities in survival. Pediatr Blood Cancer 2013;60:1848–1854. © 2013 Wiley Periodicals, Inc.

The under-representation in medical education of students from lower socio-economic backgrounds is an important social issue. There is currently little evidence about whether changes in admission strategies might increase the diversity of the medical student population. Denmark introduced an 'attribute-based' admission track to make it easier for students who may not be eligible for admission on the 'grade-based' track to be admitted on the basis of attributes other than academic performance. The aim of this research was to examine whether there were significant differences in the social composition of student cohorts admitted via each of the two tracks during the years 2002-2007. Methods: This prospective cohort study included 1074 medical students admitted during 2002-2007 to the University of Southern Denmark medical school. Of these, 454 were admitted by grade-based selection and 620 were selected on attributes other than grades. To explore the social mix of candidates admitted on each of the two tracks, respectively, we obtained information on social indices associated with educational attainment in Denmark (ethnic origin, father's education, mother's education, parenthood, parents living together, parent in receipt of social benefits). Results: Selection strategy (grade-based or attribute-based) had no statistically significant effect on the social diversity of the medical student population. Conclusions: The choice of admission criteria may not be very important to widening access and increasing social diversity in medical schools. Attracting a sufficiently diverse applicant pool may represent a better strategy for increasing diversity in the student population. Discuss ideas arising from the article at 'discuss'

Racial/ethnic origin plays an important role in fracture risk. Racial/ethnic differences in fracture rates cannot be fully explained by bone mineral density (BMD). Studies examining the influence of bone geometry and strength on fracture risk have focused primarily on older adults and have not included people from diverse racial/ethnic backgrounds. Our goal was to explore racial/ethnic differences in hip geometry and strength in a large sample of midlife women. We performed hip structure analysis (HSA) on hip dual-energy X-ray absorptiometry (DXA) scans from 1942 premenopausal and early perimenopausal women. The sample included white (50%), African American (27%), Chinese (11%), and Japanese (12%) women aged 42 to 52 years. HSA was performed using software developed at Johns Hopkins University. African American women had higher conventional (8.4% to 9.7%) and HSA BMD (5.4% to 19.8%) than other groups with the exception being Japanese women, who had the highest HSA BMD (9.7% to 31.4%). HSA indices associated with more favorable geometry and greater strength and resistance to fracture were more prevalent in African American and Japanese women. Femurs of African American women had a smaller outer diameter, a larger cross-sectional area and section modulus, and a lower buckling ratio. Japanese women presented a different pattern with a higher section modulus and lower buckling ratio, similar to African American women, but a wider outer diameter; this was offset by a greater cross-sectional area and a more centrally located centroid. Chinese women had similar conventional BMD as white women but a smaller neck region area and HSA BMD at both regions. They also had a smaller cross-sectional area and section modulus, a more medially located centroid, and a higher buckling ratio than white women. The observed biomechanical differences may help explain racial/ethnic variability in fracture rates. Future research should explore the contribution of hip geometry to fracture risk across all race/ethnicities.

Background and Aim Treatment with antituberculosis (TB) drugs produces liver damage in a large proportion of patients. Isoniazid, an antibacterial drug, is primarily responsible for this hepatotoxicity. Several polymorphisms of the N-acetyltransferase 2 (NAT-2) and cytochrome P450 2E1 enzymes, which are involved in the metabolism of isoniazid, may be directly associated with the development of hepatotoxicity. This study was designed to analyze the association between the NAT-2 and CYP2E1 polymorphisms with the development of anti-TB drug-induced hepatotoxicity (ATDH). Methods One hundred and seventy-five TB patients who had been treated with anti-TB drugs were studied. The allelic and genotypic frequency distributions of the NAT-2 and CYP2E1 enzymes were studied using polymerase chain reaction–restriction fragment length polymorphisms methodology. A binary logistic regression analysis was used to compare the results between TB patients with and without the development of hepatotoxicity. Results Having a slow acetylator status (odds ratio [OR] = 2.615; confidence interval [CI] = 1.264–5.411; P = 0.01), being female (OR = 2.734; CI = 1.325–5.639, P = 0.006), and having Bolivian ethnicity (OR = 2.711; CI = 1.307–6.625, P = 0.007) were found to be independent predictor variables for ATDH. Conclusions This study showed that a patient's NAT-2 acetylator status, gender, and ethnic origin may be regarded as important risk factors for developing hepatotoxicity. Contrary to expectations, the CYP2E1 c1/c2 polymorphism did not show a significant association with hepatotoxicity in this study. Given the increases in TB cases and ATDH incidence levels, as well as the associated hospitalization costs, it may also be helpful to know patients’ acetylator status prior to or at the beginning of the TB treatment regimen.

The aim of the present case-control study was to examine the association of the ACTN3 R577X genotype with elite swimming status. We compared a group of Spanish (Caucasian) elite swimmers (n = 88) with other cohorts of the same ethnic origin, i.e., nonathletic controls (n = 343) and other types of athletes who are in both end-points of the sports performance continuum, i.e., world-class power (n = 119) and endurance male athletes (n = 154). Swimmers had a lower odds ratio (OR) of having the RX genotype [1.815, 95% confidence intervals (CI): 0.899-3.664] compared with nonathletic controls, yet the association did not reach statistical significance (P = 0.096). Endurance athletes had greater OR of having the XX genotype (OR: 2.88, 95% CI: 1.162-7.135, P = 0.022), or the RX+XX genotype (OR: 1.903, 95% CI: 1.015-3.567, P = 0.045) compared with swimmers. No other association was found. In summary, we did not observe an association between the ACTN3 R577X polymorphism and elite swimmer's status, suggesting that any influence of this polymorphism is not of sufficient magnitude as to significantly influence elite swimming performance, at least in Spanish athletes.

Aim To evaluate the correlation between a polymorphism of PD-L1 gene and the susceptibility of non-small cell lung cancer (NSCLC) in a Chinese population. Methods A total of 293 Chinese patients with NSCLC and 293 age and sex matched controls of the same ethnic origin were enrolled in this study. A/C polymorphism at position 8923 in intron 4 of PD-L1 gene was typed using the polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP). The interactions between A/C genotype, allele frequency and NSCLC susceptibility were analyzed. Results The A/C genotype frequencies were significantly different between NSCLC patients and controls. The AC and CC frequencies were higher in NSCLC patients than in controls (16.4 vs 8.9%, 1.0 vs 0.3%, respectively). The C-allele frequency was higher in NSCLC patients than in controls (9.2 vs 4.8%). Significant differences in the A and C allele frequencies were noted between the two groups (χ2 = 8.864, P = 0.003). More risk of NSCLC was found in individuals carrying the C allele than in those carrying the A allele (OR = 2.203; 95% CI 1.262–3.242). In both light smokers (≤20 pack-years) and heavy smokers (>20 pack-years), individuals carrying the C-allele had more risk of NSCLC than those carrying the A-allele (light smokers OR = 1.847, 95% CI 1.001–3.409; heavy smokers OR = 3.252, 95% CI 1.196–8.845, respectively). Conclusion An A/C polymorphism at position 8923 in the PD-L1 gene is associated with NSCLC susceptibility. The PD-L1 polymorphism plays a role in NSCLC, especially in patients with the C-allele.

Aim To ascertain care staff's knowledge of dementia relating to aetiology and/or pathology, symptoms and care/treatment; and explore their perceptions of the importance and adequacy of dementia education and training opportunities. Methods Thirty-five care staff working in three secure dementia care facilities were recruited. Dementia knowledge was surveyed using the Staff Knowledge of Dementia Test (SKDT). Perceptions of dementia education and training were examined via semi-structured individual interviews. Results An average of 21 out of 33 SKDT questions (SD = 4.0) was correctly answered. Knowledge discrepancy was attributed to participants’ cultural and ethnic origin and the length of residency in Australia of migrant care staff. Participants acknowledged the importance of dementia education and training but were critical of the content relevancy to direct care practices. Conclusion There is a need to improve care staff knowledge of dementia, and dementia education and training should include direct practical competencies required for effective care delivery.

INTRODUCTION AND AIMS: To examine heavy episodic drinking across demographic subgroups to identify where heavy episodic drinking is socially located in an Australian state. DESIGN AND METHODS: Cross-sectional survey, 2483 adult Victorians using Computer Assisted Telephone Interviewing. Two measures of heavy drinking were used: (i) heavy episodic drinking-more than five standard drinks at least weekly; and (ii) typically heavy drinking-50% or more of all drinking occasions involving consumption of 5+ standard drinks. Associations between heavy episodic drinking and eight potential sociodemographic correlates (gender, age, education, income, marital status, ethnic origin, religion and geographical remoteness) were examined. RESULTS: There were few significant correlates of heavy episodic drinking apart from gender and age, once gender and age were controlled. Men were more likely to report heavy episodic drinking than women, but this was attenuated in the measure of typically heavy drinking, suggesting that women reporting heavy episodic drinking were more likely to typically drink that much when they drank. Younger people were more likely to report weekly heavy episodic drinking and more likely to report engaging in this pattern on at least half of their drinking occasions, and this was also true for those unmarried or in de facto relationships. Those of Asian background were less likely to report heavy drinking. In multivariate analysis, the remaining sociodemographic variables were largely unrelated to the drinking measures. DISCUSSION AND CONCLUSION: The study clearly shows that the prevalence of heavy episodic drinking varies particularly across gender and age groups in Victoria. These variations appear to hold across key sociodemographic variables such as income and education. Language: en

Background: Bronchiectasis is known to cause significant morbidity in children in New Zealand. Little is known of the disease in adults. Aim: Our objective was to characterise a cohort of adults who presented to hospital with acute exacerbations of the disease. Methods: We retrospectively collected information on all exacerbations treated as inpatients from a single hospital in South Auckland, New Zealand during 2002. Results: We collected information on 307 exacerbations in 152 patients. Twenty-seven per cent were of Maaori ethnic origin, and 44% Pacific. Seventy per cent lived in areas categorised as the 20% most deprived in New Zealand. Comorbid conditions were present in 80% of patients – most commonly chronic obstructive pulmonary disease, asthma, diabetes and cardiac disease. Seventy (46%) patients had at least one readmission and 32 patients (21%) died within 12 months of admission to hospital. Greater deprivation was associated with increased mortality at 12 months after admission after adjusting for other factors (OR 11, 95% CI 2.0–61, P= 0.006). In the subgroup who underwent high-resolution computed tomographic scanning (93), increasing severity of bronchiectasis (modified Bhalla score) was associated with readmission within 12 months (P= 0.004), but not mortality (P= 0.419). Conclusions: We have shown that exacerbations of bronchiectasis in South Auckland are more common in patients who are predominantly of Maaori or Pacific descent and are socioeconomically deprived. Admission to hospital for an exacerbation is associated with high readmission and mortality rates.

Summary Background Some studies suggest that British Afro-Caribbean girls and Pakistani girls have higher levels of obesity than girls in the general population of England. However, the interplay between child obesity, ethnicity, mother's socioeconomic status and other parental characteristics is unclear and requires exploration. Objectives This study examines the relationship between child ethnicity and child overweight/obesity after controlling for a wide range of mothers′ socioeconomic characteristics and parental overweight/obesity. Methods Health Survey for England data (1999 and 2004) are used to examine 7047 children aged 2–15 years. Body mass index (BMI) for children is classified using the International Obesity Task Force age-specific BMI thresholds for obesity and overweight. Results After controlling for a wide range of maternal socioeconomic characteristics and parental overweight/obesity, there are no ethnic differences in childhood overweight/obesity. Conclusions Having overweight or obese parents is a stronger predictor of childhood overweight/obesity than ethnic origin of the child. Interventions aimed at reducing childhood overweight/obesity should focus on parental characteristics rather than the ethnicity of the child, but they also need to be sensitive to gender and ethnic differences. Future research should aim to repeat the analyses using a measure of abdominal obesity such as waist circumference, if data become available.

Human leucocyte antigen (HLA) polymorphisms among immigrants from Pakistan have not been well investigated. Immigration to Norway started in the late 1960s for working purposes. From 1975, immigration was mainly for marriages and family reunion. When recruiting couples for a birth cohort study, we ended up with 65.5% of the 374 parents genotyped being closely related. This was also reflected in that 21% of newborns were homozygotes for their DRB1-DQA1-DQB1 genotype. For being able to study HLA class II genes frequencies among unrelated individuals, we had to exclude 195 of the parents from data analysis. High-resolution typing for the DRB1 locus, low/intermediate for the DQA1 locus and resolution genotyping for the DQB1 locus were performed in all the 179 parents and their newborns from the Punjab province of Pakistan. We identified 25 DRB1, nine DQA1 and 14 DRB1 alleles in the 179 unrelated parents included in our analysis. The most frequent alleles were DRB1*03:01:01 (15.9%) and DRB1*07:01:01 (15.9%), DQA1*01:03 (22.1%) and DQB1*02:01:01 (26.0%). Forty-one haplotypes were identified, including DRB1*13:02:01-DQA1*01:02-DQB1*06:03:01, not earlier reported. Supported by the few earlier reports on Pakistani groups living in Pakistan, it appears that alleles found among those living in Norway are of Indo-European or mixed ethnic origin. This study provides the first comprehensive report of HLA class II alleles and haplotypes in Norwegian Pakistani immigrants. When the unrelated parents were compared with all parents genotyped, there were, however, no significant differences in allele frequencies, confirming that consanguineous marriages are usual in Pakistan.

There is no data available on the ABO/Rh(D) frequencies in the Mauritanian population. We retrospectively analysed records of a 5-year database that contained ABO/Rh phenotype and ethnic origin of 10 116 volunteers giving blood at the national blood transfusion centre to derive the frequencies of ABO/Rh(D) groups in the Mauritanian population. The two race categories in the country and their sub-ethnic groups: the Moors (whites and black) and the black Africans (Pulhars, Soninkes and Wolof) were included in this study. Globally, group O had the highest frequency (49.10%) followed by A (28.28%), B (18.56%) and AB (4.05%). This order more common in North African populations was found in four of the five ethnic groups composing our population. Allele frequencies were, respectively, 70.20%, 17.74% and 12.04% giving the same order of O > A > B. We observed no significant variation in these frequencies between the different ethnic groups. Rhesus study showed that with a percentage of 94.23% Rh(D) positive is by far the most prevalent, while Rh(D) negative is present only in 5.77% of the total population. This frequency distribution supports the mixed-race composition of the Mauritanian population.

Synopsis Hair pigmentation is one of the most conspicuous phenotypes of humans. From a chemical point of view, however, data remain scarce regarding human hair pigmentation characteristics. To determine melanin content and composition in human eumelanic hair from individuals of different ethnic origins and at different ages, we collected hair from 56 subjects with eumelanic hair from each group of African-American, East Asian, and Caucasian origin. The 56 subjects consist of 14, seven each of males and females, each from four age classes of younger than 11, between 12 and 19, between 20 and 45, and older than 46. We analysed hair colour scale, total melanin value, and contents of pyrrole-2,3,5-tricarboxylic acid (PTCA) and pyrrole-2,3-dicarboxylic acid (PDCA). We measured age-dependent increases in the relative quantity of eumelanin in pigmented human hairs in the three ethnic groups. Regarding melanin composition, we observed an increase in the PDCA/PTCA ratio with age in African-American and Caucasian hairs until approaching the quite constant level of the ratio in East Asian hairs in the elderly individuals. Our results evidence differences in the content and composition of eumelanin in human hair among African-American, Caucasian and East Asian individuals. Furthermore, we show evidence of age-dependent changes in the quantity and quality of eumelanin in pigmented human hairs. In particular, the age-dependent modification of the PDCA/PTCA ratio, a marker for 5,6-dihydroxyindole units in eumelanin, suggests a chronological evolution of hair follicle melanocyte phenotype (e.g. decrease in dopachrome tautomerase expression).

The clinical usefulness of laboratory testing of adult patients with venous thromboembolism (VTE) for heritable thrombophilia needs to be critically evaluated. At present, some clinicians use testing to identify patients at higher risk of recurrence (who may benefit from an extended period of anticoagulation beyond the usual 3-6 months) and their relatives at risk of a first VTE episode. As prevalence of heritable thrombophilia is related to age and ethnic origin, the pretest probability of detecting heritable thrombophilia may be low in unselected populations. Interpretation of laboratory results may not be straightforward. Apparent deficiencies of a natural anticoagulant may be due to acute thrombosis and "consumption", concomitant therapy with heparin and/or warfarin and other clinical factors. The predictive value of recurrent VTE conferred by the most common types of heritable thrombophilia (factor V Leiden and the G20210A prothrombin mutation) is limited. Risk of recurrence associated with deficiencies of a natural anticoagulant is less certain due to their rarity. Clinical risk factors (eg, the presence or otherwise of provoking factor(s) and whether or not the risk factor for VTE is reversible or permanent) appear to be the most important predictors of VTE recurrence. Duration of anticoagulation should be determined by clinical risk factors rather than the presence, or otherwise, of heritable thrombophilia. The benefit of identifying relatives who are carriers of thrombophilia is uncertain, as VTE is a multifactorial disease resulting from the interaction of various risk factors, some well recognised and others as yet unknown.

Aims and objectives: To review the empirical literature relating to South Asian patients' experiences of cardiac rehabilitation. Background: Individuals of South Asian origin (originating from India, Pakistan, Bangladesh, or Sri Lanka) have increased risk of coronary heart disease-related mortality and morbidity. Low levels of cardiac rehabilitation participation have been reported among South Asian groups in several English-speaking countries. Design: Narrative review. Methods: Primary research evidence published in English between 1999-2010 obtained using pre-defined search criteria in electronic databases MEDLINE, CINAHL, PubMed, EMBASE, Google Scholar and PsycINFO. Results: Eleven studies met the inclusion criteria for review. Four prominent themes were identified in the literature related to: (1) exercise; (2) culture and religion; (3) programme access and structure; (4) communication and language. Conclusions: The emerging themes distilled from the review encompass several factors associated with South Asian patients' experiences of cardiac rehabilitation that are commensurate with low uptake and poor adherence. However, few researchers have disaggregated their data by ethnic origin to describe what might best meet the needs of South Asian patients. Further research is needed to thoughtfully address issues of uptake of and compliance with cardiac rehabilitation by South Asian patients and to support the development of culturally sensitive and safe CR programmes. Relevance to clinical practice: The findings from this review can help nurses to develop guidelines for the design and delivery of culturally competent South Asian cardiac rehabilitation programmes. Important considerations related to physical exercise, language and communication preferences, religious and cultural needs and programme access and structure, need to be addressed in a culturally relevant and culturally sensitive manner to enhance the uptake and efficacy of cardiac rehabilitation for South Asian individuals.

Synopsis Ethnic and genetic differences modify skin structure and function. Skin photoageing is becoming one of the most studied cosmetological topics. However, there are relatively few data available to evaluate the effect of ethnic skin origin on the degree of photoageing, particularly among people inhabiting sunny and hot climate as in South Asia. Two hundred and forty participants, enrolled in the study conducted in Pokhara valley, Nepal, were classified into four different age categories viz. below 30, 30–50, 50–60 and above 60 years. Participants answered the questioner regarding their age, gender, ethnic origin, occupation, skin characteristics, lifestyle factors, type of cosmetic and skin care products used, drug treatment and personal skin condition evaluation. Skin hyperpigmentation and the degree of wrinkling, the two most important parameters related to photoageing, were particularly evaluated in two ethnic groups, namely Aryan-origin and Mongolian-origin participants. The study showed that Aryan-origin ethnic skin was more wrinkled and darker than that of Mongolian. Male skin was found to be darker than the female skin, which might be the result of the use of sun-protective cosmetic products among women. Smoking was found to increase the degree of wrinkling; however, no differences related to ethnic origin in relation to smoking were observed. This study indicates the need to further evaluate the differences in skin response to daily exposure to strong sun among various ethnic-origin inhabitants. Resume Les origines ethniques et genetiques modifient la structure de la peau et ses fonctions. Le photovieillissement devient un des sujets les plus etudies en cosmetologie. Toutefois, il y a relativement peu de donnees disponibles concernant l’evaluation de l’effet du photovieillissement sur les peaux ethniques, et plus particulierement chez les personnes qui habitent sous des climats ensoleilles et chauds comme ceux de l’Asie du Sud. Deux cent quarante personnes ont participea l’enquete qui a ete menee dans la vallee de Pokhara, au Nepal, et ils ont ete classes en quatre categories selon leur âge (30, 30–50, 50–60 et plus de 60 ans). Les participants ont repondu a un questionnaire concernant leur âge, leur sexe, leur origine ethnique, leur metier, leurs caracteristiques cutanees, leur style de vie, les produits cosmetiques qu’ils utilisent, les traitements medicamenteux et l’evaluation personnelle de l’etat de leur peau. L’hyperpigmentation de la peau et le stade des rides, parametres les plus importants liees au photovieillissement, ont ete divises en deux groupes ethniques a savoir, caucasien et mongoloide. La peau masculine est consideree d’etre plus foncee que la peau feminine qui pourrait etre le resultat de l’utilisation des antisolaires chez les femmes. Il est montre que fumer augmente le stade des rides, toutefois, il n’y a pas de differences entre les origines ethniques par rapport au tabagisme. Cette etude indique la necessite d’une evaluation plus poussee sur les differences de reaction de la peau fortement exposee au soleil parmi les habitants de diverses origines ethniques.

Diabet. Med. 28, 668–672 (2011) Abstract Aims To study differences in the association between physical inactivity and Type 2 diabetes among subjects from different ethnic groups. Methods We analysed data on 508 Caucasian, 596 African-Surinamese and 339 Hindustani-Surinamese participants, aged 35–60 years, in the population-based, cross-sectional Surinamese in the Netherlands Study on Health and Ethnicity (SUNSET) study. Physical inactivity was defined as the lowest quartile of reported activity, measured with the validated Short Questionnaire to Assess Health-Enhancing Physical Activity. Type 2 diabetes was defined as fasting plasma glucose levels ≥ 7.0 mmol/l or self-reported diagnosis. Results Physical inactivity was associated with Type 2 diabetes (OR 1.63, 95% CI 1.12–2.38) in the total group after adjustment for sex, age, BMI, ethnicity, resting heart rate, hypertension, smoking, history of cardiovascular disease, having a first-degree relative with Type 2 diabetes and educational level. However, this association was only significant in Caucasians (OR 3.17, 95% CI 1.37–7.30). Moreover, it appeared stronger in Caucasians than in Hindustani-Surinamese (OR 1.43, 95% CI 0.78–2.63) and African-Surinamese (OR 1.13, 95% CI 0.58–2.19), although the P-value for interaction was not significant. Conclusions Physical inactivity was associated with Type 2 diabetes in the total group after adjustment for multiple risk factors, but this association was only significant in Caucasians. Also, it appeared stronger in Caucasians than in Hindustani and African-Surinamese, but formal testing for interaction provided no further evidence. These findings confirm the importance of exercise, but suggest that potential health gain may differ between ethnic groups. However, it should be noted that, in general, promotion of physical activity in populations with an increased a priori risk of Type 2 diabetes, remains of the utmost importance.

African Americans are less likely than Whites to enroll in hospice. In addition, patients are often referred to hospice very close to death, when they may not have time to take advantage of the full range of hospice services. Understanding how race and location before hospice enrollment are related to hospice length of stay (LOS) may inform the development of interventions to increase timely access to hospice care. Using data from a national hospice provider, African Americans and Whites admitted to routine home hospice care in a private residence between January 1, 2000, and December 31, 2003, were identified. Logistic regression was used to examine the association between race and hospice preadmission location (hospital vs other locations) and preadmission location and hospice LOS (≤7 days vs >7 days) after adjusting for demographic and hospice use variables. Of 43,869 enrollees, 15.3% were African American. One to 2 days before hospice enrollment, African Americans were more likely than Whites to be in the hospital than in all other locations (48.6% vs 32.3%, P

Background and Objectives. Joint hypermobility syndrome (JHS) is an inherited disorder of connective tissue. It presents as a condition in which there are neuromusculoskeletal signs and symptoms, including pain, without the inflammatory component of a joint disease such as rheumatoid arthritis. Re-attendance in rheumatology clinics, re-injury and prolonged rehabilitation are also features of JHS. The primary aims of this study were to establish the prevalence of hypermobility and JHS in those attending physiotherapy clinics with neuromusculoskeletal disorders in Oman. Methods. A cross-sectional case control study design was used. The participant population included Omani women, aged 18–50 years, attending physiotherapy services for musculoskeletal complaints. The comparison population comprised women of a similar age and ethnic origin who were staff at the hospital. The primary outcome measures were the Beighton Score and the Brighton Criteria. Results. A total of 184 subjects were recruited into the study. These consisted of 94 in the participant group and 90 in the comparison group. Hypermobility was recorded in 51% of the participant group and 30% of the comparison group. The number of participants with JHS was 55%, while 21% of the comparison group exhibited features of the JHS phenotype without pain. A significant number of participants with JHS were re-attending for treatment compared with those without JHS. Conclusions. This study confirms a high prevalence of JHS among subjects with musculoskeletal signs and symptoms and that re-attendance for physiotherapy treatment is more frequent in subjects with JHS than in those without. Copyright © 2010 John Wiley & Sons, Ltd.

Objective: To determine whether patterns in student use of school nurse services existed according to poverty, race, and ethnicity. Design and Sample: Cross-sectional descriptive study of 51,767 visits to school nurses made by 12,797 middle and high school students was conducted. Data were collected and analyzed by race, ethnicity, and poverty. Measures: Individual-level quantitative data on student visits to school nurses were collected via the School Nurse Entry Database. Numbers and types of student visits were measured, along with the demographic characteristics of student visitors. Results: Poverty was the largest driver of visits to school nurses among all racial and ethnic groups. Poverty was a larger influence on White students' use of services, suggesting that factors related to race, ethnicity, or culture may have larger effects on promoting visits to school nurses by students of color. Subethnic Asian and Hispanic groups showed visit patterns that deviated from aggregated visit rates. Conclusions: Knowledge of visit patterns among poor, ethnic, and subethnic populations is important—and particularly urgent with the advent of national health reform—in informing and improving public health and school nursing policy and practice.

Objectives To investigate the differences in occupational exposure between Māori (New Zealand's indigenous people) and non-Māori. Methods Participants were randomly selected from the Electoral Roll. Exposure to occupational risk factors was assessed through telephone interviews and exposure prevalences of Māori (n = 273) and non-Māori (n = 2,724) were compared. Subsequently, Māori were matched with non-Māori on current occupation (n = 482) to assess whether ethnic differences also exist within occupations. Results Māori were more likely to report exposure to physical strain (e.g., lifting, standing). Part of these differences remained when Māori were compared with non-Māori in the same job. In addition, Māori women were twice as likely to categorize their job as very or extremely stressful than non-Māori women in the same job, while Māori men were twice as likely to report exposure to dust. Conclusion Marked ethnic differences exist in risk factors for occupational ill-health, due to both occupational distribution and the distribution of tasks within occupations. Am. J. Ind. Med. 54:410–418, 2011. © 2011 Wiley-Liss, Inc.

BACKGROUND: Interactions with comorbidity burden and comorbidity-related care have not been examined as potential explanations for racial/ethnic disparities in advanced-stage breast cancer at diagnosis. METHODS: The authors used linked Surveillance, Epidemiology, and End Results-Medicare data to determine whether comorbidity burden and comorbidity-related care are associated with stage at diagnosis, whether these associations are mediated by mammography use, and whether they explain racial/ethnic disparities. Stage at diagnosis and mammography use were analyzed in multivariate regression models, adjusting for comorbidity burden and comorbidity-race interactions among 118,742 women diagnosed with breast cancer during 1993 to 2005. RESULTS: Mammography utilization was higher among women with ≥3 stable comorbidities than among those without comorbidities. Advanced stage at diagnosis was associated with black race (odds ratio [OR], 1.8; 95% confidence interval [CI], 1.6-1.8), Hispanic ethnicity (OR, 1.3; 95% CI, 1.2-1.5), unstable comorbidity, and age ≥80 years. Mammography was protective in all racial/ethnic groups, but neither mammography use (OR, 0.3; 95% CI, 0.3-0.3 and OR, 0.2; 95% CI, 0.2-0.2 for women with 1 and ≥2 prior mammograms, respectively) nor overall physician service use (OR, 0.7; 95% CI, 0.7-0.8 for women with ≥16 visits) explained the association between race/ethnicity and stage at diagnosis. The black/white OR fell to 1.2 (95% CI, 0.9-1.5) among women with multiple stable comorbidities who received ≥2 screening mammograms, and 1.0 (95% CI, 0.8-1.3) among mammography users with unstable comorbidities. CONCLUSIONS: Comorbidity burden was associated with regular mammography and earlier stage at diagnosis. Racial/ethnic disparities in late stage disease were reduced among women who received both regular mammograms and comorbidity-related care. Cancer 2011. © 2011 American Cancer Society.

Dealberto M.-J. Prevalence of autism according to maternal immigrant status and ethnic origin. Objective: To examine the rates of autism separately according to maternal immigrant status and ethnic origin in respect to the vitamin D insufficiency hypothesis. Method: Articles were identified by electronic searches. Studies were selected when they analysed autism rates according to maternal immigrant status and/or ethnic origin using multivariate techniques. Results: This review gave further support to the association between maternal immigrant status and an increased risk of autism. The relationship with ethnic origin was more complex. Although the crude rates did not differ, multivariate analyses taking into account confounding factors found that black ethnicity was associated with an increased risk for autism. The risk was highly significant when considering the strict definition of autistic disorders as opposed to the large definition of other pervasive developmental disorders. The risk was also very significant for autism associated with mental retardation. Conclusion: These results are consistent with the maternal vitamin D insufficiency hypothesis. Neurobiological studies are warranted to document the effect of maternal vitamin D insufficiency during pregnancy on the foetal brain and the window of vulnerability. This review stresses the importance of monitoring vitamin D levels in pregnant women, especially those who are immigrant, dark-skinned or veiled, and the urgency of randomized controlled trials.