A multi-ancestry GWAS meta-analysis of facial features and its application in predicting archaic human features.

Facial morphology, a complex trait influenced by genetics, holds great significance in evolutionary research. However, due to limited fossil evidence, the facial characteristics of Neanderthals and Denisovans have remained largely unknown. In this study, we conducted a large-scale multi-ethnic meta-analysis of the genome-wide association study (GWAS), including 9674 East Asians and 10,115 Europeans, quantitatively assessing 78 facial traits using 3D facial images. We identified 71 genomic loci associated with facial features, including 21 novel loci. We developed a facial polygenic score (FPS) that enables the prediction of facial features based on genetic information. Interestingly, the distribution of FPSs among populations from diverse continental groups exhibited relevant correlations with observed facial features. Furthermore, we applied the FPS to predict the facial traits of seven Neanderthals and one Denisovan using ancient DNA and aligned predictions with the fossil records. Our results suggested that Neanderthals and Denisovans likely shared similar facial features, such as a wider but shorter nose and a wider endocanthion distance. The decreased mouth width was characterized specifically in Denisovans. The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.

Effect of Customized Nutritious Breakfast and Nutrition Education on Nutritional Status of Preschool Children in Economically Underdeveloped Multi-Ethnic Areas: A Cluster Randomized Clinical Trial in Linxia, China.

The nutritional status of preschool children in economically underdeveloped multi-ethnic areas is a global concern. This study aimed to examine the effect of a 2.2-year cluster randomized clinical trial that provided customized nutritious breakfast and nutrition education to preschool children in Linxia County, China. A total of 578 children aged 3 to 6 years were enrolled. After the intervention, the incidence of undernourishment was significantly lower in the intervention group compared to the control group (8.73% vs. 9.92%, OR = 0.01 [95%CI 0.00, 0.39], p = 0.014). Additionally, children with non-Muslim dietary habits had a lower incidence of undernourishment compared to those with Muslim dietary habits (OR = 0.05 [95%CI 0.00, 0.88]; p = 0.010). The intervention group also had a lower prevalence rate of wasting (OR = 0.02 [95%CI 0.00, 0.40]; p = 0.011) and a higher mean BMI-for-age Z-score (ß = 1.05 [95%CI 0.32, 1.77]; p = 0.005) compared to the control group. These findings suggest that providing nutritious breakfast and nutrition education is an effective strategy to improve the nutrition and health of preschool children, particularly in economically disadvantaged regions and among children with Muslim dietary habits.

Exploring the Singapore general population's trust in COVID-19 information from different sources and its association with perceived risk of infection during the pandemic.

Background: The degree of public trust in the government's competence is crucial in preventing the spread of misinformation and reducing psychological distress during a pandemic. The study aimed to (i) explore the trust in COVID-19 information from different sources and trust in the ability of the World Health Organization (WHO), government departments and related institutions in handling the epidemic in Singapore and (ii) its association with perceived risk of infection among Singapore residents. Methods: A total of 1,129 participants (aged 21 and above) were recruited from a cross-sectional study examining the well-being and resilience of Singapore's population between May 2020 to June 2021. Trust in COVID-19 information from different sources was measured on a 10-point scale and an ordinal 7-point scale was used for perceived risk of infection. Descriptive statistics and multivariate logistic regression model were conducted. Results: 85.5% reported high trust in COVID-19 information from the government and their ability in handling the pandemic. Participants also reported high trust in COVID-19 information from local public health or infectious disease experts (84.4%) and traditional media (77.2%). Low trust in the ability of government departments and related institutions was associated with higher future (1 month) perceived risk of infection (OR: 5.7, 95% CI 1.02-32.45) and low trust in social media was associated with higher current perceived risk of infection (OR: 2.4, 95% CI 1.09-5.24). Discussion: The present study provided insight on the level of trust on COVID-19 information from different sources and its associated perceived risks of infection. Future qualitative studies are recommended to facilitate better understanding of public trust and identify strategies for how it can be effectively addressed to support future public health responses.

A history of cardiovascular magnetic resonance imaging in clinical practice and population science.

Cardiovascular magnetic resonance (CMR) imaging has become an invaluable clinical and research tool. Starting from the discovery of nuclear magnetic resonance, this article provides a brief overview of the key developments that have led to CMR as it is today, and how it became the modality of choice for large-scale population studies.

Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in Southwestern China.

BACKGROUND: Maternally inherited hearing loss has been associated with mitochondrial genes, including MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE. Among these genes, MT-RNR1 is known to be a hotspot for pathogenic variants related to aminoglycoside ototoxicity and nonsyndromic hearing loss. However, the frequency and spectrum of variants in these genes, particularly in multi-ethnic hearing loss patients from Southwestern China, are still not fully understood. METHODS: In this study, we enrolled 460 hearing loss patients from various ethnic backgrounds (Han, Yi, Dai, Hani, etc.) in Southwestern China. Next-generation sequencing was used to analyze the mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes. Subsequently, bioinformatical methods were employed to evaluate the identified variants. RESULTS: Among the patients with hearing loss, we identified 70 variants in MT-RNR1 (78.6 %, 55/70), MT-TL1 (4.3 %, 3/70), MT-TS1 (4.3 %, 3/70), MT-TK (7.1 %, 5/70) and MT-TE (5.7 %, 4/70) genes. We found that 15 variants were associated with hearing loss, including m.1555 A > G and m.1095 T > C. Additionally, we discovered three reported mitochondrial variants (m.676 G > A, m.7465 insC, and m.7474 A > G) newly correlated with hearing loss. Notably, certain pathogenic variants, such as m.1555 A > G, displayed non-consistent distributions among the multi-ethnic patients with hearing loss. Furthermore, the number of variants associated with hearing loss was higher in the Sinitic group (n = 181) and Tibeto-Burman group (n = 215) compared to the Kra-Dai group (n = 38) and Hmong-Mien group (n = 26). CONCLUSIONS: This present study revealed the distribution of mitochondrial variants linked to hearing loss across various ethnic groups in Southwestern China. These data suggest a potential correlation between the distribution of mitochondrial variants associated with hearing loss and ethnic genetic backgrounds.

Characteristics of Spinal Morphology According to the "Current" and "Theoretical" Roussouly Classification Systems in a Diverse, Asymptomatic Cohort: Multi-Ethnic Alignment Normative Study (MEANS).

STUDY DESIGN: Cross-sectional cohort study. OBJECTIVE: To classify spinal morphology using the "current" and "theoretical" Roussouly systems and assess sagittal alignment in an asymptomatic cohort. METHODS: 467 asymptomatic volunteers were recruited from 5 countries. Radiographic parameters were measured via the EOS imaging system. "Current" and "theoretical" Roussouly classification was assigned with sagittal whole spine imaging using sacral slope (SS), pelvic incidence (PI), and the lumbar apex. One-way analysis of variance (ANOVA) was performed to compare subject characteristics across Roussouly types, followed by post hoc Bonferroni correction. RESULTS: Volunteers were categorized into 4 groups (Types 1-4) and 1 subgroup (Type 3 AP) using the "current" and "theoretical" Roussouly systems. The mean PI in "current" Roussouly groups was 40.8° (Type 1), 43.6° (Type 2), 52.4° (Type 3), 62.4° (Type 4), and 43.7° (Type 3AP). The mean PI in "theoretical" Roussouly groups was 36.5° (Type 1), 39.1°(Type 2), 52.5° (Type 3), 67.3° (Type 4), and 51.0° (Type 3AP). The difference in PI between "current" and "theoretical" Roussouly types was significant for Type 1 (P = .02), Type 2 (P < .001), Type 4 (P < .001), and Type 3AP (P < .001). 34.7% of subjects had a "current" Roussouly type different from the "theoretical" type. Type 3 theoretical shape had the most frequent mismatch, constituting 61.1% of the mismatched subjects. 51.5% of mismatched Type 3 become "current" Type 4. CONCLUSION: The distribution of Roussouly types differs depending on whether the "current" or "theoretical" classification are employed. A sizeable proportion of volunteers exhibited current and theoretical type mismatch, highlighting the need to interpret sagittal alignment cautiously when utilizing the Roussouly system.

Predicting the evolution of clinical skin aging in a multi-ethnic population: Developing causal Bayesian networks using dermatological expertise.

INTRODUCTION: Software to predict the impact of aging on physical appearance is increasingly popular. But it does not consider the complex interplay of factors that contribute to skin aging. OBJECTIVES: To predict the +15-year progression of clinical signs of skin aging by developing Causal Bayesian Belief Networks (CBBNs) using expert knowledge from dermatologists. MATERIAL AND METHODS: Structures and conditional probability distributions were elicited worldwide from dermatologists with experience of at least 15 years in aesthetics. CBBN models were built for all phototypes and for ages ranging from 18 to 65 years, focusing on wrinkles, pigmentary heterogeneity and facial ptosis. Models were also evaluated by a group of independent dermatologists ensuring the quality of prediction of the cumulative effects of extrinsic and intrinsic skin aging factors, especially the distribution of scores for clinical signs 15 years after the initial assessment. RESULTS: For easiness, only models on African skins are presented in this paper. The forehead wrinkle evolution model has been detailed. Specific atlas and extrinsic factors of facial aging were used for this skin type. But the prediction method has been validated for all phototypes, and for all clinical signs of facial aging. CONCLUSION: This method proposes a skin aging model that predicts the aging process for each clinical sign, considering endogenous and exogenous factors. It simulates aging curves according to lifestyle. It can be used as a preventive tool and could be coupled with a generative AI algorithm to visualize aging and, potentially, other skin conditions, using appropriate images.

Application of Artificial Intelligence (AI) System in Opportunistic Screening and Diagnostic Population in a Middle-income Nation.

OBJECTIVE: This study evaluates the effectiveness of artificial intelligence (AI) in mammography in a diverse population from a middle-income nation and compares it to traditional methods. METHODS: A retrospective study was conducted on 543 mammograms of 467 Malays, 48 Chinese, and 28 Indians in a middle-income nation. Three breast radiologists interpreted the examinations independently in two reading sessions (with and without AI support). Breast density and BI-RADS categories were assessed, comparing the accuracy, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) results. RESULTS: Of 543 mammograms, 69.2% had lesions detected. Biopsies were performed on 25%(n=136), with 66(48.5%) benign and 70(51.5%) malignant. Substantial agreement in density assessment between the radiologist and AI software (κ =0.606, p < 0.001) and the BI-RADS category with and without AI (κ =0.74, p < 0.001). The performance of the AI software was comparable to the traditional methods. The sensitivity, specificity, PPV, and NPV or radiologists alone, radiologist + AI, and AI alone were 81.9%,90.4%,56.0%, and 97.1%; 81.0%, 93.1%,55.5%, and 97.0%; and 90.0%,76.5%,36.2%, and 98.1%, respectively. AI software enhances the accuracy of lesion diagnosis and reduces unnecessary biopsies, particularly for BI-RADS 4 lesions. The AI software results for synthetic were almost similar to the original 2D mammography, with AUC of 0.925 and 0.871, respectively. CONCLUSION: AI software may assist in the accurate diagnosis of breast lesions, enhancing the efficiency of breast lesion diagnosis in a mixed population of opportunistic screening and diagnostic patients. KEY MESSAGES: • The use of artificial intelligence (AI) in mammography for population-based breast cancer screening has been validated in high-income nations, with reported improved diagnostic performance. Our study evaluated the usage of an AI tool in an opportunistic screening setting in a multi-ethnic and middle-income nation. • The application of AI in mammography enhances diagnostic accuracy, potentially leading to reduced unnecessary biopsies. • AI integration into the workflow did not disrupt the performance of trained breast radiologists, as there is a substantial inter-reader agreement for BI-RADS category assessment and breast density.

Ethnic disparities and its association between epicardial adipose tissue thickness and cardiometabolic parameters.

Excessive deposit of epicardial adipose tissue (EAT) were recently shown to be positively correlated with cardiovascular disease (CVD). This study aims to investigate the thickness of EAT and its association with the components of metabolic syndrome among multi-ethnic Malaysians with and without acute coronary syndrome (ACS). A total of 213 patients were recruited, with the thickness of EAT were quantified non-invasively using standard two-dimensional echocardiography. EAT thickness among the Malaysian population was prompted by several demographic factors and medical comorbidities, particularly T2DM and dyslipidaemia. ACS patients have significantly thicker EAT compared to those without ACS (4.1 mm vs 3.7 mm, p = 0.035). Interestingly, among all the races, Chinese had the thickest EAT distribution (4.6 mm vs 3.8 mm), with age (p = 0.04 vs p < 0.001), and overall diastolic blood pressure (p = 0.028) was also found to be associated with EAT thickness. Further study is warranted to investigate its role as a cardiovascular risk marker among Malaysians with ACS.

A Comparative Study of Three Dementia Screening Instruments (CSI-D, CMMSE, and ECAQ) in a Multi-Ethnic Asian Population.

Background-There is no validated dementia screening tool for multi-ethnic Asian populations comprising Chinese, Malays, and Indians. This study aimed to establish the psychometric properties of the Community Screening Instrument for Dementia (CSI-D), Chinese Mini Mental State Examination (CMMSE), and Elderly Cognitive Assessment Questionnaire (ECAQ) in multi-ethnic Singapore. Methods-Participants were randomly drawn from a community-based neurological diseases study of older adults conducted in Singapore, with oversampling to allow similar subject numbers from the three major ethnicities: Chinese, Malay, and Indian. The CSI-D, CMMSE, and ECAQ were administered by trained research nurses using a standardised translated questionnaire in a language the participant was most conversant in. Participants were independently diagnosed as a case/non-case of dementia using the DSM-IV. Results-There were 259 participants (85 Chinese, 85 Malays, and 89 Indians, mean age 70.15 years, 65.4% female, 58.8% had no/minimal formal education); 22.8% (n = 59) had dementia. Correlations between the measures were substantial. All the measures had acceptable overall discriminative abilities. Diagnostic accuracies of the instruments did not differ across the ethnic groups. Effects of education were present in the cognitive screening measures. Conclusions-The CSI-D, CMMSE, and ECAQ are valid dementia instruments in this multi-ethnic Asian setting.

Association of circulating fibroblast growth factor 21 levels with all-cause and cardiovascular mortality: The multi-ethnic study of atherosclerosis.

BACKGROUND: Fibroblast growth factor 21 (FGF21) levels are often elevated in cardiovascular disease (CVD). However, no study has assessed its association with cardiovascular and all-cause mortality in a population free of clinically evident CVD. METHODS: A total of 5543 Multi-Ethnic Study of Atherosclerosis (MESA) participants (mean age 62.7 years, 47.5 % male), free of clinically evident CVD at baseline, were studied. From baseline (2000-2002), 1606 deaths (including 387 CVD deaths) were observed over a median follow-up of 17.7 years. Multivariable Cox regression analysis was performed to assess the association of plasma FGF21 levels with mortality. RESULTS: FGF21 levels at baseline were associated with all-cause mortality, even after adjustment for traditional risk factors, including demographic, socioeconomic and cardiovascular risk factors (adjusted hazard ratio 1.08 [95% confidence interval 1.01, 1.16] per 1 SD increase in ln-transformed levels; 1.27 for the highest vs, lowest quartile). Baseline FGF21 levels were significantly associated with both CVD and non-CVD mortality in unadjusted models. However, the association with non-CVD mortality, but not CVD mortality, remained statistically significant after adjusting for covariates. Similar results were obtained in FGF21 quartile analyses and also when using competing risk regression or matched case-control cohort in sensitivity analyses. CONCLUSIONS: In subjects without clinically-evident CVD at baseline, over 17.7 years follow-up there is a modest association of baseline FGF21 levels with all-cause mortality. The finding that this is driven primarily by a significant association with non-CVD mortality over almost two decades merits further investigation.

Association between secondhand smoke exposure and incident heart failure: The Multi-Ethnic Study of Atherosclerosis (MESA).

AIMS: There are no studies on the association between secondhand smoke (SHS) exposure and incident heart failure (HF). This cohort study aimed to examine the associations of self-reported and urinary cotinine-assessed SHS exposure with incident HF. METHODS AND RESULTS: This study included 5548 non-active smoking participants aged 45-84 years and free of known cardiovascular diseases and HF at baseline who self-reported SHS exposure time in the Multi-Ethnic Study of Atherosclerosis (MESA) at baseline (2000-2002). A cohort subset of 3376 non-active smoking participants underwent urinary cotinine measurements. HF events were verified by medical records or death certificates and ascertained from baseline through 2019. Multivariable Cox proportional hazards regression analysis was used with adjustment for demographic variables, traditional cardiovascular risk factors, physical activity, tobacco pack-years and medications. During a median follow-up of 17.7 years, 353 and 196 HF events were identified in the self-report cohort and cohort subset, respectively. In the self-report cohort, compared with the SHS unexposed group (0 h/week), the highest tertile of the SHS exposed group (7-168 h/week) was not associated with incident HF (hazard ratio [HR] 0.70, 95% confidence interval [CI] 0.49-1.00; p = 0.052). In contrast, in the cohort subset, participants with detectable urinary cotinine >7.07 ng/ml had a higher risk of incident HF than those with undetectable urinary cotinine ≤7.07 ng/ml (HR 1.45, 95% CI 1.03-2.06; p = 0.034). There were no significant heterogeneities in HF risk by age, sex, race/ethnicity, or past smoking status. CONCLUSION: Secondhand smoke exposure reflected by modestly increased urinary cotinine (>7.07 ng/ml) rather than self-report in non-active smokers was associated with a 40-50% higher risk of any HF event.

Diabetes in pregnancy: Women's views of care in a multi-ethnic, low socioeconomic population with midwifery continuity-of-care.

BACKGROUND: Diabetes in pregnancy is diagnosed in 6% of pregnancies annually in Aotearoa-New Zealand, disproportionately affecting multi-ethnic, low socio-economic women. Little is known about the care experience of this population within the model of midwifery continuity-of-care, including views of telehealth care. AIM: Increase understanding of the experience of diabetes in pregnancy care, including telehealth, among multi-ethnic, low socio-economic women receiving midwifery continuity-of-care. METHODS: Qualitative interview study with primarily indigenous and migrant women who had diabetes in pregnancy and gave birth 6-18 months previously. Interviewers were matched with participants by ethnicity. Transcripts were analysed using Framework analysis. RESULTS: Participants were 19 women (5 Maori, 5 Pacific Peoples, 5 Asian, 4 European). Data analysis revealed three key themes: 1) 'shock, shame, and adjustment' to the diagnosis 2) 'learning to manage diabetes in pregnancy' and 3) 'preparation for birth and beyond' to the postpartum period. DISCUSSION: Receiving the diagnosis of diabetes in pregnancy was a shock. Managing diabetes during pregnancy was particularly challenging for indigenous and migrant women, who wished for better access to culturally appropriate dietary and lifestyle information. Women appreciated having options of telehealth and face-to-face consultations. Preparation for birth and postpartum diabetes follow-up were areas requiring significant improvement. Challenges were mitigated through care from a consistent diabetes specialist midwife and community-based midwifery continuity-of-care. CONCLUSION: Midwives were the backbone of diabetes in pregnancy care for this multi-ethnic, low socio-economic population. Care could be improved with more culturally appropriate diet and lifestyle information, better birth preparation, and expanded postpartum diabetes support.

A cidade dos outros / The city of the others

Os percursos costumeiros dentro da cidade em que vivemos desenham nosso "mapa da cidade". A tipologia deste mapa depende fundamentalmente de nosso nível social. Examinou-se, anteriormente, o mapa da cidade dos pacientes que saíram do hospital psiquiátrico, para avaliar os efeitos da desinstitucionalização. Hoje, examina-se como vive o clandestino dentro das cidades italianas. O mapa do clandestino se baseia na degradação; evidencia mecanismos de intolerância e de acolhida; permite entender como as pessoas se enrijecem em suas posições ou, ao contrário, como as identidades dos sujeitos interagem e favorecem mudanças e emancipação. A escolha se funda na disponibilidade dos sujeitos e é fortemente influenciada pelas políticas públicas de respeito dos direitos das pessoas.

In the city where we live each one of us usually goes to those places that have a special meaning. All these places describe one's map of the city. But the use of the city depends above of all on the social standing of a person.Before, it was considered the city map of patients discharged from psychiatric hospitals to understand the impact of deinstitutionalization . Today , it is necessary to consider the underground life of "illegal" immigrants in Italian cities. Their maps describe the social mechanism of refusal or acceptance. This helps us understand how people refuse to budge from their respective standpoints or on the contrary how the identities interact with each other and change. The choice results from the individual receptivity, but above all from human rights policies.