Reference Population Research Articles

What is known about cardiovascular diseases among seafarers: A systematic scoping review and quality assessment.

Seafarers are at an increased risk of developing cardiovascular diseases (CVDs), potentially due to a stressful working environment and behavioral risk factors. To develop better prevention strategies, it is important to elucidate the extent of this risk. Therefore, we conducted a systematic literature review on CVD in seafarers. We conducted systematic searches in five databases. All studies investigating CVDs among occupational seafarers, published in articles or conference papers, were eligible for inclusion. The identified records were screened and reviewed by two independent researchers, who also evaluated the methodological quality of the included studies. Three thousand nine hundred and seventeen records qualified for screening, and 55 were eligible for inclusion. Most of the studies were observational, including cohort, frequency, incidence or prevalence studies, and review of case records. Around half were assessed at risk of biased findings. Participants in the studies were primarily from North America or the European continent and work onboard transportation vessels. Many studies investigated CVDs as a cause of death, focusing on conditions such as CVD, ischemic heart disease, and myocardial infarction. Frequency of CVD conditions varied but indicate that seafarers face a greater risk compared to the reference populations or control groups. Environmental factors were mainly investigated as risk factors. Our results indicate a higher risk of CVDs among seafarers compared to reference or control groups. However, due to the variable quality of the evidence, well-designed studies are needed to establish the causes of cardiovascular mortality and morbidity in seafarers and to investigate behavioral aspects of cardiovascular risk.

Comparison of internal and external reference populations for occupational cancer surveillance in a cohort drawn from a diverse workforce.

Prior analyses of the Occupational Disease Surveillance System (ODSS) have compared cancer rates using internal referent groups. As an exploratory analysis, we sought to estimate cancer risk using general population reference rates to evaluate the impact that the comparison population has on findings from our surveillance program. A cohort of approximately 2.3 million workers in Ontario, Canada with an accepted lost-time workers' compensation claim were followed for all cancer diagnoses between 1983 and 2018. Standardized incidence ratios (SIRs) and 95% confidence intervals were calculated for workers in specific occupational groups using (1) all other workers in the ODSS cohort, and (2) the general population of Ontario. SIRs using the general population reference group were generally equal to or modestly lower compared to SIRs using the internal reference group. Within occupation groups, SIRs had a discordant direction of association (increased rate in the internal comparison and decreased in the external comparison) for some cancer sites including urinary, prostate, and colorectal. Findings emphasize the importance of the choice of reference group when evaluating cancer risks in large occupational surveillance cohorts. Importantly, the magnitude of confounding and the healthy worker hire bias may depend on the occupation group and cancer site of interest.

Complete Blood Count and Biochemistry Reference Intervals for Healthy Adult Donkeys in the United States.

Previous hematologic and serum biochemistry reference interval (RI) values have been established for donkeys in various geographic regions, life-stages, or for specific donkey breeds. The last extensive investigation establishing RIs for adult donkeys in the United States (U.S.) was published over three decades ago. We aimed to establish updated robust RIs using a reference population of apparently healthy adult donkeys from across the U.S. Standard sized (n = 102), miniature (n = 17), and mammoth (n = 1) donkeys from four different states were enrolled, with 20% of the study population including donkeys captured directly from the wild in Death Valley National Park, CA. RIs were established in accordance with the American Society for Veterinary Clinical Pathology and Clinical Laboratory Standards Institute guidelines. The findings will assist practitioners with the interpretation of their complete blood count and biochemistry panel results in U.S. donkeys. This study also highlights a comparison of results for some important analytes in U.S. donkeys compared to U.S. horses and previously established donkey RIs.

Polygenic hazard score models for the prediction of Alzheimer's free survival using the lasso for Cox's proportional hazards model.

The prediction of the susceptibility of an individual to a certain disease is an important and timely research area. An established technique is to estimate the risk of an individual with the help of an integrated risk model, that is, a polygenic risk score with added epidemiological covariates. However, integrated risk models do not capture any time dependence, and may provide a point estimate of the relative risk with respect to a reference population. The aim of this work is twofold. First, we explore and advocate the idea of predicting the time-dependent hazard and survival (defined as disease-free time) of an individual for the onset of a disease. This provides a practitioner with a much more differentiated view of absolute survival as a function of time. Second, to compute the time-dependent risk of an individual, we use published methodology to fit a Cox's proportional hazard model to data from a genetic SNP study of time to Alzheimer's disease (AD) onset, using the lasso to incorporate further epidemiological variables such as sex, APOE (apolipoprotein E, a genetic risk factor for AD) status, 10 leading principal components, and selected genomic loci. We apply the lasso for Cox's proportional hazards to a data set of 6792 AD patients (composed of 4102 cases and 2690 controls) and 87 covariates. We demonstrate that fitting a lasso model for Cox's proportional hazards allows one to obtain more accurate survival curves than with state-of-the-art (likelihood-based) methods. Moreover, the methodology allows one to obtain personalized survival curves for a patient, thus giving a much more differentiated view of the expected progression of a disease than the view offered by integrated risk models. The runtime to compute personalized survival curves is under a minute for the entire data set of AD patients, thus enabling it to handle datasets with 60,000-100,000 subjects in less than 1 h.

Urological outcomes in adult females born with anorectal malformation or Hirschsprung disease.

Women born with anorectal malformation (ARM) or Hirschsprung disease (HD) may have impaired urologic function resulting in sequelae in adulthood. This study assessed and compared self-reported urinary outcomes in adult females born with ARM or HD to a reference population. This was an IRB approved, cross-sectional study of female-born patients with ARM or HD, who completed surveys between November 2021 and August 2022. Female patients between the ages of 18 and 80years were included. Lower Urinary Tract Symptom Questionnaires were administered through REDCap and the responses were compared to a reference population using Chi-squared or Fisher's exact tests. Sixty-six born female patients answered the questionnaires, two of them identified as non-binary. The response rate was 76%. Median age was 31.6years. The majority were born with cloaca (56.3%), followed by other type of ARMs (28.1%), complex malformation (9.4%), and HD (6.3%). A history of bladder reconstruction was present for 26.6%. Catheterization through a channel or native urethra was present in 18.8%. Two had ureterostomies and were excluded from the analysis. Seven had chronic kidney disease or end-stage renal disease, three with a history of kidney transplantation. Patients with cloaca had significantly higher rates of urinary incontinence, urinary tract infection, and social problems due to impaired urological functioning, when compared to an age-matched reference population (Table3). This study emphasizes the need for a multi-disciplinary team that includes urology and nephrology following patients with ARM long term, especially within the subgroup of cloaca. III.

Population structure and genetic diversity in males of the autochthonous Busha cattle in Croatia

Busha is recognized as the most numerous autochthonous cattle breed in Croatia. In small populations, using the same sire repeatedly can increase inbreeding rates. This can lead to fewer high-quality, and high inbred breeding sires over time. Genealogical records of the Busha cattle breed registered from 1987 to 2022 were used to investigate the population structure and the genetic variability of the male individuals. The dataset included 10,411 animals, of which 3,962 were males. The average equivalent complete generation reached 2.92 in the total population and 3.05 in the reference population, when considering only living animals. The average inbreeding coefficient in the male population was 1.59%. Over the studied period, inbreeding rose to an average value of 2.07% in the last birth year cohort (2017-2022). The unequal contribution of the effective number of founders indicates the more frequent use of particular breeding sire lines. Nevertheless, despite the controlled inbreeding rate observed among breeding sires, and the absence of any evident population bottleneck, our study highlighted the need for breeding strategies to optimize the contribution of breeding animals in the next generations to ensure long-term conservation of the Busha cattle breed.

P-524 Ethnicity and aneuploidy rates in a global perspective: a comparative genomic study of 16,543 embryos from the United Kingdom, India and Japan

Abstract Study question Is embryonic aneuploidy, as determined by Next Generation Sequencing (NGS) based Pre-Implantation Genetic Testing for Aneuploidy (PGT-A) related to female ethnicity? Summary answer In this study, when determining aneuploidy through NGS-based PGT-A, female ethnicity did not have an impact on embryonic aneuploidy. What is known already Inequalities in pregnancy outcomes following in-vitro fertilization (IVF) have often been attributed to potential disparities in genetic susceptibility, with past studies showing higher pregnancy rates in older Caucasian patients compared to younger South-Asian patients. With aneuploidy as one of the best-characterized barriers to IVF success, critics argue that potential ethnic variations in aneuploidy rates may contribute to inequalities in IVF success, raising concerns about the appropriateness of standardized protocols. Proponents stress the importance of personalized medicine accounting for individual genetic backgrounds. Acknowledging genetic diversity and ensuring equitable access to successful fertility treatments remains a complex challenge. Study design, size, duration In this retrospective cohort review, data reflecting 4,354 women undergoing an IVF±ICSI cycle with concomitant NGS-based PGT-A from 65 centres in the United Kingdom, India and Japan was requested. Trophectoderm biopsy results from 16,513 embryos tested through a single genetic laboratory over a five-year period (2019-2023) were analysed. Patients were categorised by ethnicity (Caucasian, African, East Asian, or South Asian) and further stratified by age (<35, 35-37, 38-39, 40-42, >42). Participants/materials, setting, methods Women aged between 25–45 years undergoing an IVF±ICSI cycle with concomitant NGS-based PGT-A were included. Patients undergoing PGT for inherited genetic disorders (PGT-M) or gamete donation cycles were excluded, and only autologous oocyte cases were included. Trophectoderm biopsy was performed on day 5, 6 or 7 and NGS was performed from amplified deoxyribonucleic acid (DNA). Primary outcome of interest was aneuploidy rate (>30% abnormality). Statistical analysis included ANOVA, Kruskal Wallis, and linear regression tests analysis. Main results and the role of chance In our analysis, the mean number of embryos tested overall was 3.46 (SD 2.07) and the mode was 4. The mean number was 3.84 for South Asian, 3.47 for Caucasian, 2.4 for African and 2.87 for East Asian. This was not statistically different between groups (P = 0.48). Subgroup analysis did not identify any statistically significant differences in the number of oocytes retrieved, MII oocytes retrieved and fertilization rates. When categorising by female age alone, there was a statistically significant difference in aneuploidy and female age overall (<35: 32.1±29.7%; 35-37: 42.1±31.3%; 37-39: 50.4±29.3%;40-42: 64.7±33.5% and > 42:73.9±38.7%, p-value: <0.001). When subcategorised by ethnicity, linear regression analysis did not identify a significant association with aneuploidy rate and ethnicity. The was no statistically significant difference in mean aneuploidy rate by ethnicity: East Asian 67.2±32.2%, African 58.3±42.2%, European 55.6±35.6%, and South Asian 53±32.4% (p-value 0.57). With Caucasian as the reference population, coefficients for South Asian (3.20, p-value:0.61), East Asian (8.50 p-value: 0.31), and African (7.20, p-value: 0.60) were not statistically significant. No statistically significant differences in aneuploidy rates were observed across female age categories (<35, 35-37, 38-39, 40-42, >42) and ethnicities, with a p-value of 0.17. Limitations, reasons for caution The study type was retrospective in nature. Ethnic groups are not homogenous, and there can be significant genetic, cultural, and environmental diversity within a group. Failure to account for this heterogeneity may result in oversimplification and misinterpretation of findings. There was under representation of patients from African origin (2%). Wider implications of the findings These data do not support differences in embryonic aneuploidy among various ethnicities in patients undergoing IVF±ICSI /NGS-PGT-A. We limited our analysis to a single genetic laboratory to reduce reporting variation and technical confounders. It does not appear that specific recommendations for aneuploidy screening should be made based upon ethnic heritage. Trial registration number Not applicable

Assessment of postoperative morbidity in Spanish hospitals: Results from a national survey

BackgroundThe methodology used for recording, evaluating and reporting postoperative complications (PC) is unknown.The aim of the present study was to determine how PC are recorded, evaluated, and reported in General and Digestive Surgery Services (GDSS) in Spain, and to assess their stance on morbidity audits. MethodsUsing a cross-sectional study design, an anonymous survey of 50 questions was sent to all the heads of GDSS at hospitals in Spain. ResultsThe survey was answered by 67 out of 222 services (30.2%). These services have a reference population (RP) of 15 715 174 inhabitants, representing 33% of the Spanish population.Only 15 services reported being requested to supply data on morbidity by their hospital administrators. Eighteen GDSS, with a RP of 3 241 000 (20.6%) did not record PC. Among these, 7 were accredited for some area of training. Thirty-six GDSS (RP 8 753 174 (55.7%) did not provide details on all PC in patients’ discharge reports. Twenty-four (37%) of the 65 GDSS that had started using a new surgical procedure/technique had not recorded PC in any way. Sixty-five GDSS were not concerned by the prospect of their results being audited, and 65 thought that a more comprehensive knowledge of PC would help them improve their results. Out of the 37 GDSS that reported publishing their results, 27 had consulted only one source of information: medical progress records in 11 cases, and discharge reports in 9. ConclusionsThis study reflects serious deficiencies in the recording, evaluation and reporting of PC by GDSS in Spain.

Establishment of reference intervals of oxidized low-density lipoprotein cholesterol in a population of West Bengal

Background: Elevated oxidized low-density lipoprotein (Ox-LDL) was significantly associated with the atherosclerotic cardiovascular disease as well as retinal vascular diseases but there were no studies to show the reference range of Ox-LDL levels in any Indian population. Aims and Objectives: The aim of this study was to formulate the reference intervals of Ox-LDL cholesterol in a population of West Bengal. Materials and Methods: Ox-LDL levels of 434 apparently healthy individuals were estimated based on the history, clinical examination, and laboratory investigations. Statistical analysis was performed using the statistical package for the social sciences software. Results: The reference range of Ox-LDL levels for all ages was 34.1±4.9 mol/L in healthy male and 34.5±4.5 mol/L in healthy female. The 2.5th and 97.5th percentile values of Ox-LDL level in the reference population were 27 (0.90 CI = 26.4–27.6) and 42 (0.90 CI = 41.4–42.6), respectively. Conclusions: Reference intervals for Ox-LDL may help clinicians to predict the future risk for coronary heart disease and retinal vascular disease by taking medical decision limits and also open up the scope for further research for other laboratories to formulate their own reference interval of Ox-LDL.

Status of elevated blood pressure among Chinese children and adolescents aged 7-17 from 2016 to 2017 according to 4 different references

To describe and analysis the detection rate of high normal blood pressure and high blood pressure among Chinese children and adolescents aged 7-17 years from 2016 to 2017 according to the clinical practice guideline for screening and management of high blood pressure in Children and Adolescents published by the American Academy of Pediatrics(the AAP reference), the international blood pressure references among Children and Adolescents aged 6 to 17 years(the international reference), health industry standard of the People's Republic of China "Reference of screening for elevated blood pressure among children and adolescents aged 7 to 18 years(WS/T 610-2018)"(the industry reference) and updating blood pressure references for Chinese children aged 3 to 17 years(the guideline reference). Data was from the China Nutrition and Health Surveillance of Children and Lactating Women(2016-2017), in which the multistage stratified whole group random sampling method was used to draw participants from 275 surveillance sites in 31 provinces(autonomous regions and municipalities). In total, 67 231 participants were included according to the inclusion and exclusion criteria. Blood pressure was measured three times by trained staff using a validated oscillometric blood pressure monitor at the same point. The average blood pressure was calculated for the three measurements for SBP and DBP. To match the sampling design methodology, all values were weighted to represent the total population of Chinese children and adolescents 7-17 years of age considering sampling weights for each stratification based on the sixth population census data provided by the National Bureau of Statistics. The detection rate varied greatly under different references. The detection rate of high normal blood pressure was ranked from high to low according to the AAP reference(20.15%) > the guideline reference(17.29%) > the industry reference(13.14%) > the international reference(12.66%); the detection rate of high blood pressure in descending order is the guideline reference(24.31%) > the international reference(21.34%) > the AAP reference(20.59%) > the industry reference(19.96%). Although the consistency between the AAP references and international references and our national two references were medium to high, the difference in detection rate obtained by analysis was large. Considering the differences of demographic characteristics in the reference population, caution should be taken when applying foreign references to judge the blood pressure status of children and adolescents in China.

Determining the dynamical age of the LMC globular cluster NGC 1835 using the ‘dynamical clock’

In the context of the study of the size–age relationship observed in star clusters in the Large Magellanic Cloud (LMC) and the investigation of its origin, we present the determination of the structural parameters and the dynamical age of the massive cluster NGC 1835. We used the powerful combination of optical and near-ultraviolet images acquired with the WFC3 on board the HST to construct the star density profile from resolved star counts, determining the values of the core, half-mass, and tidal radii through comparison with the King model family. The same data also allowed us to evaluate the dynamical age of the cluster by using the ‘dynamical clock’. This is an empirical method that quantifies the level of the central segregation of blue stragglers stars (BSSs) within the cluster half-mass radius by means of the Arh+ parameter, which is defined as the area enclosed between the cumulative radial distribution of BSSs and that of a reference (lighter) population. The results confirm that NGC 1835 is a very compact cluster with a core radius of only 0.84 pc. The estimated value of Arh+ (0.30 ± 0.04) is the largest measured so far in the LMC clusters, providing evidence of a highly dynamically evolved stellar system. NGC 1835 fits nicely into the correlation between Arh+ and the central relaxation time and in the anti-correlation between Arh+ and the core radius defined by the Galactic and Magellanic Cloud clusters investigated to date.

High-quality reference genome decoding and population evolution analysis of prickly Sechium edule

Sechium edule (chayote) is an important vegetable crop belonging to the Cucurbitaceae family. To decipher the chayote genome, a high-quality chromosome-level chayote genome was obtained by genome sequencing and bioinformatic analysis. The total length was 612.91 Mb, and 25 755 genes were detected in the chayote genome. The contig N50 was more than 20.01 Mb, and the scaffold N50 was over 47.11 Mb. Of the genome, 60.35% were composed of repetitive sequences, and 31.18% of genome sequences belonged to long-terminal repeats. A global alignment of homologous regions in chayote and other Cucurbitaceae plant genomes was constructed using grape as a reference. Based on this genome-wide and global alignment map, researchers can easily identify homologous collinear genes of the studied genomes in most Cucurbitaceae species. Twenty-five chayote accessions were divided into two subgroups based on phylogenetic tree, population structure analysis, and principal component analysis using genome re-sequencing data. The chayote genome, re-sequencing dataset, and comprehensive genomic analysis will accelerate comparative and functional genomic analysis of chayote and other Cucurbitaceae species in the future.

Differential healthcare direct costs of asthma and chronic rhinosinusitis with nasal polyps in Catalonia (Spain).

This study compares the direct healthcare costs associated with asthma and chronic rhinosinusitis with nasal polyps (CRSwNP) from 2013 to 2017 in Catalonia (Spain) with a population control group without these conditions. A population administrative database containing healthcare information was used. The database contained information on primary care, hospitalisations, and emergency care from 2013 to 2017 in Catalonia. The unit cost of each healthcare procedure was imputed using a complete list of public prices for primary care services, hospital, and speciality services. Differential costs were estimated using a finite mixture model. Individuals diagnosed with asthma or CRSwNP showed a higher incidence of comorbidities than the control group. Mean annual direct costs per patient were €1,102 for asthma, €1,612 for CRSwNP and €2,197 for those with both conditions. According to our estimations, differential costs were €162 - €274 for patients with asthma and €481 - €1,257 for patients with CRSwNP compared to the reference population. These costs were significantly higher when asthma and CRSwNP coexist and especially in their severe condition. This population-based study revealed that asthma and CRSwN are associated with great economic burdens for healthcare systems. These costs were significantly higher when comorbidity was present (asthma and CRSwNP) and especially in their severe condition (€4,441).

Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

BackgroundGenetic disease has recently emerged as a cause of cardiac conduction disorders (CCDs), but the diagnostic yield of genetic testing and the contribution of the different genes to CCD is still unsettled. ObjectivesThis study sought to determine the diagnostic yield of genetic testing in young adults with CCD of unknown etiology requiring pacemaker implantation. We also studied the prevalence of rare protein-altering variants across individual genes and functional gene groups. MethodsWe performed whole exome sequencing in 150 patients with CCD of unknown etiology who had permanent pacemaker implanted at age ≤60 years at 14 Spanish hospitals. Prevalence of rare protein-altering variants in patients with CCD was compared with a reference population of 115,522 individuals from gnomAD database (control subjects). ResultsAmong 39 prioritized genes, patients with CCD had more rare protein-altering variants than control subjects (OR: 2.39; 95% CI: 1.75-3.33). Significant enrichment of rare variants in patients with CCD was observed in all functional gene groups except in the desmosomal genes group. Rare variants in the nuclear envelope genes group exhibited the strongest association with CCD (OR: 6.77; 95% CI: 3.71-13.87). Of note, rare variants in sarcomeric genes were also enriched (OR: 1.73; 95% CI: 1.05-3.10). An actionable genetic variant was detected in 21 patients (14%), with LMNA being the most frequently involved gene (4.6%). ConclusionsUnrecognized rare genetic variants increase the risk of CCD in young adults with CCD of unknown etiology. Genetic testing should be performed in patients age ≤60 years with CCD of unknown etiology. The role of genetic variants in sarcomeric genes as a cause of CCD should be further investigated.

Sustained predation pressure may prevent the loss of anti-predator traits from havened populations.

Conservation havens free of invasive predators are increasingly relied upon for fauna conservation, although havened populations can lose anti-predator traits, likely making them less suitable for life 'beyond the fence'. Sustaining low levels of mammalian predator pressure inside havens may prevent the loss of anti-predator traits from havened populations. We opportunistically compared behavioural and morphological anti-predator traits between four woylie (Bettongia penicillata ogilbyi) populations- one haven isolated from all mammalian predators, one haven containing a native mammalian predator (chuditch; Dasyurus geoffroii), and their respective non-havened counterparts (each containing both chuditch and invasive predators). Havened woylies existing without mammalian predators were smaller (shorter hindfeet, smaller body weight) and less reactive (consumed more food from fox-treated and control feeding stations, less agitated during human handling) than a non-havened reference population. However, in the haven containing chuditch, we found no difference in behaviour or morphology compared to the adjacent non-havened population. Across populations, anti-predator responses tended to appear stronger at sites with higher predator activity, suggestive of an adaptive response across a gradient of predation pressure. Our findings suggest that maintaining mammalian predation pressure in conservation havens could be effective for preventing or slowing the loss of anti-predator traits from these populations.

Under Nutrition in Less than Six Months Needs More Attention

Under nutrition in infants is a critical public health concern with far-reaching consequences on child growth and development, particularly during the crucial first six months of life(1). This formative period lays the foundation for future health outcomes and any disruption in adequate nutrition can lead to a host of long-term issues, including stunted growth, compromised immune function, and impaired cognitive development(2). According to the Black et al. (2008) study, these factors are responsible for approximately 2.2 million deaths annually and contribute to 21% of disability-adjusted life-years in this age group(3). The 2011 United Nation Children's Fund (UNICEF) Global Nutrition report indicated that more than 311 million children (32% of all children) were undernourished. Globally, more than four million children died within a year of their birth due to inadequate nutrition.In addition, poor infant nutrition has been shown to be responsible for more than 40% of deaths in children younger than 5 years, particularly during their first month of life(4). The adverse effects of infant undernutrition include physical disabilities, poor school attendance, diabetes, hypertension and cardiovascular disease which may affect the subsequent generation(5).Therefore, undernutrition may have negative long-term consequences for a country’s economic growth and development. The impact of undernutrition on child growth and development starts in utero. Maternal undernutrition has been associated with poor foetal growth which may result in low birth weight (LBW, weight at birth less than 2500 g), small for gestational age (SGA, newborns weighing less than the 10th percentile of a sex-specific reference population) and preterm birth (PTB, children born before 37 gestational weeks(6). In 2016, UNICEF reported that 15% (20 million) of newborns worldwide had LBW and 10% (15 million) PTB. In 2010, 32.4 million newborns worldwide were SGA. The prevalence of SGA was 27% in LMICs, with SSA having one of the highest prevalence(7). The first six months of life are characterized by rapid growth and development, as well as a heightened vulnerability to nutrition-related risks(8).

Clinical trial results in context: comparison of baseline characteristics and outcomes of 38,510 RECOVERY trial participants versus a reference population of 346,271 people hospitalised with COVID-19 in England

BackgroundRandomised trials are essential to reliably assess medical interventions. Nevertheless, interpretation of such studies, particularly when considering absolute effects, is enhanced by understanding how the trial population may differ from the populations it aims to represent.MethodsWe compared baseline characteristics and mortality of RECOVERY participants recruited in England (n = 38,510) with a reference population hospitalised with COVID-19 in England (n = 346,271) from March 2020 to November 2021. We used linked hospitalisation and mortality data for both cohorts to extract demographics, comorbidity/frailty scores, and crude and age- and sex-adjusted 28-day all-cause mortality.ResultsDemographics of RECOVERY participants were broadly similar to the reference population, but RECOVERY participants were younger (mean age [standard deviation]: RECOVERY 62.6 [15.3] vs reference 65.7 [18.5] years) and less frequently female (37% vs 45%). Comorbidity and frailty scores were lower in RECOVERY, but differences were attenuated after age stratification. Age- and sex-adjusted 28-day mortality declined over time but was similar between cohorts across the study period (RECOVERY 23.7% [95% confidence interval: 23.3–24.1%]; vs reference 24.8% [24.6–25.0%]), except during the first pandemic wave in the UK (March–May 2020) when adjusted mortality was lower in RECOVERY.ConclusionsAdjusted 28-day mortality in RECOVERY was similar to a nationwide reference population of patients admitted with COVID-19 in England during the same period but varied substantially over time in both cohorts. Therefore, the absolute effect estimates from RECOVERY were broadly applicable to the target population at the time but should be interpreted in the light of current mortality estimates.Trial registrationISRCTN50189673- Feb. 04, 2020, NCT04381936- May 11, 2020.

Predictive ability of multi-population genomic prediction methods of phenotypes for reproduction traits in Chinese and Austrian pigs

BackgroundMulti-population genomic prediction can rapidly expand the size of the reference population and improve genomic prediction ability. Machine learning (ML) algorithms have shown advantages in single-population genomic prediction of phenotypes. However, few studies have explored the effectiveness of ML methods for multi-population genomic prediction.ResultsIn this study, 3720 Yorkshire pigs from Austria and four breeding farms in China were used, and single-trait genomic best linear unbiased prediction (ST-GBLUP), multitrait GBLUP (MT-GBLUP), Bayesian Horseshoe (BayesHE), and three ML methods (support vector regression (SVR), kernel ridge regression (KRR) and AdaBoost.R2) were compared to explore the optimal method for joint genomic prediction of phenotypes of Chinese and Austrian pigs through 10 replicates of fivefold cross-validation. In this study, we tested the performance of different methods in two scenarios: (i) including only one Austrian population and one Chinese pig population that were genetically linked based on principal component analysis (PCA) (designated as the “two-population scenario”) and (ii) adding reference populations that are unrelated based on PCA to the above two populations (designated as the “multi-population scenario”). Our results show that, the use of MT-GBLUP in the two-population scenario resulted in an improvement of 7.1% in predictive ability compared to ST-GBLUP, while the use of SVR and KKR yielded improvements in predictive ability of 4.5 and 5.3%, respectively, compared to MT-GBLUP. SVR and KRR also yielded lower mean square errors (MSE) in most population and trait combinations. In the multi-population scenario, improvements in predictive ability of 29.7, 24.4 and 11.1% were obtained compared to ST-GBLUP when using, respectively, SVR, KRR, and AdaBoost.R2. However, compared to MT-GBLUP, the potential of ML methods to improve predictive ability was not demonstrated.ConclusionsOur study demonstrates that ML algorithms can achieve better prediction performance than multitrait GBLUP models in multi-population genomic prediction of phenotypes when the populations have similar genetic backgrounds; however, when reference populations that are unrelated based on PCA are added, the ML methods did not show a benefit. When the number of populations increased, only MT-GBLUP improved predictive ability in both validation populations, while the other methods showed improvement in only one population.

Mental health and BMI in children and adolescents during one year in obesity treatment

BackgroundMental health plays a major role in children and adolescents with obesity. The aim of this study was (1) to compare mental health in children with obesity with the background population and (2) to investigate if mental health changed during one year in an obesity treatment program.MethodsData on self-reported mental health was collected in 107 children and adolescents (mean age 13.2 years) with obesity at first visit in an obesity treatment program and at one year follow-up (n = 47). Mental health was assessed by eight questions from the Danish Health Behaviour in School-aged Children (HBSC) questionnaire: (1) self-rated health (2) life satisfaction (3) feeling low (4) body-image (5) loneliness (6) self-esteem (7) self-efficacy and (8) social competence. Data was compared to a reference population based on HBSC data. BMI-SDS was based on Danish reference values.ResultsChildren and adolescents with obesity had significantly higher odds of reporting negative body image and feeling low and lower odds of reporting high self-rated health and high self-esteem compared to a reference population. There was no difference between the groups regarding life-satisfaction, social competence, self-efficacy or feeling lonely. There were no significant changes in mental health from first visit to one-year follow-up.ConclusionOur findings highlight the mental health difficulties in children and adolescents with obesity, and the importance of addressing these issues in obesity treatment. The results also indicate that children with obesity have psychosocial resources that should be exploited in treatment protocols.

Elucidating population structure and genetic diversity of intercross sheep through pedigree analysis

The aim of this study was to assess the population structure and genetic diversity along with determining the accuracy of ongoing selection program in a closed flock of Intercross sheep through pedigree analysis. The pedigree records of 2245 animals maintained at CSWRI-NTRS, Garsa, Kullu during the period from 2012 to 2023 were utilized to calculate the genealogical information, genetic conservation index and other parameters based on gene origin probabilities. Lambs born during 2020 and 2023 were considered as reference population. ENDOG version 4.8 software package was used for pedigree analysis. Analysis revealed that the mean generation interval for the reference population was 3.20 years with a longer interval in dam-offspring pathways relative to sire-offspring pathways. Average inbreeding coefficients for whole and reference population were 0.21 and 0.49 % and corresponding average relatedness was 1.24 and 1.72 %, respectively. The average maximum, equivalent and completed generations were 2.50, 1.96 and 1.63 with 0.12 %, 0.17 % and 0.20 % increase in inbreeding coefficient, respectively. This resultant effective population size estimated using individual increase in inbreeding was 156.52. Effective numbers of founders (fe) and ancestors (fa) was 68 and 61, respectively for reference population with a ratio of 1.11, indicating occurrence of minor effects of bottleneck in the flock. The genetic contribution of most influent ancestors contributing 50 % of the gene pool was only 23. The estimated founder genome (fg) and non-founder genome (fng) were 35.87 and 75.91, respectively in the present population. The estimate for fg/fa ratio was 0.59 which explained that 59 % of the original genetic diversity is exit in the reference population. Genetic conservation index (GCI) ranged from 1 % to 20.28 % with a mean value of 4.91 %. Overall, males recorded a slightly higher GCI than females, i.e., 5.23 vs 4.65 %, respectively. The results revealed that, the population has augmented genetic diversity and low level of inbreeding. Small fraction of genetic diversity was vanished due to unequal contribution of founders and minor bottleneck effects occurred due to disproportionate contribution of breeding animals to gene pool of population. Use of a sufficient number of breeding rams and optimum contribution selection (OCS) is recommended to maintain the genetic diversity as well as enhancing production potential in this population.