Inform Public Health Policy Research Articles

Coming out of isolation: impacts of COVID-19 on physical activity, diet, mental well-being, and sleep over time

IntroductionThe COVID-19 pandemic lockdown significantly disrupted daily routines and impacted physical activity, diet, mental well-being, and sleep. This mixed-methods study investigates these changes over three periods—pre-pandemic, pandemic onset, and one-year post-onset—to understand their causes and inform public health policy for improved resilience during future crises.MethodsA mixed-methods study was conducted with 34 US participants who completed open-ended qualitative questions and quantitative assessments in May 2020 and May 2021. Participants were recruited via social media from 10 states with high COVID-19 cases. Quantitative data categorized health changes (positive, negative, or no change), while qualitative data were analyzed thematically to explore reasons for these changes and uncover interrelationships among health behaviors.ResultsQuantitative results showed that, during the pandemic onset, most participants experienced negative changes in diet, mental well-being, and sleep, while physical activity varied. By one-year post-onset, improvements were noted across all health pillars, with mental well-being and sleep showing the most significant positive changes. Thematic analysis of qualitative data revealed stress, anxiety, and personal motivations as key drivers of health behaviors. Participants’ narratives provided a deeper understanding of these shifts that a Likert-style survey alone could not capture, highlighting the interconnectedness of health pillars.DiscussionThe findings demonstrate the importance of addressing mental well-being to improve overall health resilience. Public health interventions should prioritize mental health and consider the interrelated nature of health behaviors. The mixed-methods approach combined quantitative trends with qualitative insights, offering a comprehensive understanding of why health changes occurred, providing actionable guidance for future public health policy.

Abstract 4122008: Bayesian modeling to forecast mortality due to Ischemic Heart Disease, Stroke, and Peripheral Artery Disease in Brazil until 2040

Introduction: Atherosclerotic cardiovascular disease, specifically ischemic heart disease (IHD), stroke, and peripheral artery disease (PAD) together are among the leading causes of cardiovascular mortality in Brazil. As the obesity, hypertension, and diabetes rates in the Brazil continue to increase, projecting mortality rates related to these conditions are important for guiding health policy. Hypothesis: We hypothesized that there are differences in the future trends of IHD, stroke and PAD in Brazil. Aims: We sought to forecast the trends in IHD, stroke, and PAD in Brazil until 2040 to fill in this important knowledge gap and inform public health policy development. Methods: We collected the annual death counts for IHD, stroke, and PAD and the mid-year population estimates in 5-year age brackets (40 – 79 years) between 1990 and 2019 from the Global Burden of Disease. We calculated the annual crude and age-standardized mortality rates (per 100 000 residents) for IHD, stroke and PAD between 1990 and 2019. Using this observed data, we estimated the projected mortality rates for these conditions till 2040 using Bayesian age-period-cohort (BAPC) models. Results: Brazil`s population (aged 40-79 years) will increase by 237.5% between 1990 and 2040. Nationally, compared to 2019, the age standardized IHD mortality is projected to reduce by 31.66 % [2019: 131.13, 2040:89.6 (IQR: 65.83, 113.37)] and stroke rates are estimated to reduce by 16.75% [2019: 91.09, 2040: 75.83 (IQR: 51.68, 99.98)]. However, PAD rates are projected to increase by 1.2% in the same period [2019: 1.58, 2040: 1.66 (IQR: 1.24, 2.07)]. The age standardized IHD and stroke mortality rates will reduce in males and females. However, the age standardized PAD rates will increase in females [2019: 1.33, 2040: 1.48 (IQR: 1.06, 1.89), 11.28% difference] and remain reasonably constant among males. Conclusion: In Brazil, the age standardized rates for IHD and stroke mortality are projected to decline till 2040. However, PAD related mortality is likely to be an important issue among females. Our findings highlight the need for early and targeted interventions to address these potential cardiovascular health disparities.

Genomic Insights into Drug Abuse: The Role of DNA and Protein-Coding Regions in Addiction and Genetic Mutation

Abstract This paper explores the genetic and epigenetic impacts of drug abuse, focusing on how chronic drug use can induce mutations in DNA, particularly within protein-coding regions, and alter gene expression through mechanisms such as DNA methylation. The study highlights the significant role of these genetic changes in the brain's reward pathways, which contribute to the development and persistence of addiction. Through a comprehensive literature review, the paper identifies key genetic factors associated with addiction susceptibility and the long-term effects of drug-induced epigenetic modifications. A proposed research framework is presented, emphasizing the need for longitudinal studies to track epigenetic changes over time, targeted genomic analysis to identify critical mutations, and the integration of multi-omics approaches to provide a holistic understanding of drug abuse's impact on the genome. The paper also addresses ethical considerations, including the importance of protecting genetic privacy and preventing stigmatization based on genetic findings. The study concludes that advancing our understanding of the genetic and epigenetic mechanisms underlying addiction can lead to more effective, personalized treatment strategies and inform public health policies aimed at mitigating the effects of drug abuse.

Factors Associated With Transmission Across Three Waves of SARS-CoV-2 in a Prospective Community-Based Study of Households With School-Aged Children-Dane County, Wisconsin, 2020-2022.

Household transmission of SARS-CoV-2 is a driver of the ongoing COVID-19 pandemic. Understanding factors that contribute to secondary infection risks (SIRs) can define changing trends and inform public health policies. The ORegon CHild Absenteeism due to Respiratory Disease Study (ORCHARDS) prospectively monitors respiratory viruses within the Oregon School District (OSD) in southcentral Wisconsin. Households with students who had ≥ 2 respiratory symptoms were eligible and opted to participate in ORCHARDS. Between October 28, 2020, and May 16, 2022, all household members provided self-collected nasal specimens on days 0, 7, and 14 for SARS-CoV-2 detection using real-time reverse-transcription-polymerase chain reaction. We used logistic regression to investigate individual- and household-level characteristics associated with SARS-CoV-2 transmission. Overall, 127 households comprising 572 individuals (48% female; 52% male; 0.4% nonbinary; 77% ≥ 18 years) had at least one detection of SARS-CoV-2. The overall SIR was 47% and decreased over time (pre-Delta = 72% [95% CI: 58%-83%]; Delta = 51% [40%-63%]; and Omicron = 41% [36%-47%]). Odds of household transmission were 63% lower during the Omicron period compared with the pre-Delta period (OR = 0.36 [95% CI: 0.13-0.94] p = 0.037). Greater household density (members/bedroom) was significantly associated with household transmission during the Omicron period (OR = 6.8, [2.19-21.37] p = 0.001). Index case age, illness severity, and individual symptoms were not significantly associated with odds of household transmission. Greater household density was associated with a higher risk of SARS-CoV-2 transmission, but the risk declined over time with subsequent variants. Interplay between variants, prior infection, and individual/household factors may identify modifiable factors (e.g., behavior and vaccination) to reduce future transmission risk.

Not All Carcinogens Are Directly Mutagenic: A Holistic View of the Environmental Exposure–Cancer Connection

Cancers, a leading cause of morbidity and mortality worldwide, are undergoing notable shifts in incidence patterns. Cancer subtypes generally associated with advancing age are now increasingly being diagnosed in younger populations, while gender disparities in cancer susceptibility have fluctuated across various malignancies. Some cancer subtypes previously confined to specific geographical populations are now globally prevalent. Remarkably, these changing patterns of cancer incidence have occurred despite relatively stable mutational landscapes specific to each cancer type, highlighting the role of environmental exposures (exposomes) as potential drivers of these trends. Intriguingly, evidence suggests that the exposome may exert some of its influence through nonmutagenic mechanisms, although the precise ways in which environmental carcinogens trigger or promote cancer development remain poorly understood. This review summarizes the current understanding of the mutagenic and nonmutagenic mechanisms through which carcinogens, including tobacco smoke, air pollutants, metals, diet, and alcohol, impact cancer development, as this may help inform precision prevention and public health policy.

Real-time measurement of metals in submicron aerosols with particle-into-liquid sampler combined with micro-discharge optical emission spectroscopy.

The paper presents a novel technique for quantifying trace metals in aerosol samples in real time. Airborne metals were continuously collected for one week near the Baltic Sea in Finland using a particle-into-liquid sampler (PILS). The collected liquid samples were analyzed for metals using micro-discharge optical emission spectroscopy (µDOES). The micro-discharge analyzer is designed to perform real-time, on-site measurements of metal concentrations in aqueous solutions. Currently, µDOES can provide online measurements of 30 metals, with typical detection limits from 0.01µg/m3 to 0.06µg/m3 with a long-term repeatability less than 5%. The novelty of this analyzer lies in its compact design, rapid detection capabilities, and ease of operation and maintenance. Several metals, including potassium (K), calcium (Ca), sodium (Na), aluminum (Al), magnesium (Mg), and copper (Cu), were measured in the aerosol samples collected using PILS. The results indicate that this approach has significant potential for future automated online monitoring of airborne metal concentrations, facilitating investigations into their sources and daily variations. The development of real-time technologies for rapid, online, and accurate atmospheric aerosol measurements is essential for advancing climate change research. Such advancements allowing for continuous real-time data enhance our understanding of aerosol dynamics, improve source identification, and inform public health and environmental policies, ultimately contributing to more effective climate change monitoring and mitigation.

Characteristics of fatal COVID-19 among pregnant women admitted to hospitals in Kazakhstan

Abstract Background The factors contributing to the fatal outcome of COVID-19 in pregnant women remain not entirely clear. We compared the prevalence rates of comorbidities and laboratory test results in pregnant survivors and non-survivors. Methods This retrospective study relied on clinical and laboratory data obtained from medical records of pregnant women with COVID-19 admitted to three hospitals of the Republic of Kazakhstan from 16.07.2021 to 31.01.2022. Overall, we obtained data on 157 pregnant women with COVID-19, of whom 95.9 % survived and 4.1 % died in the hospitals. Results Arterial hypertension was present in 50% of non-survivors vs. 7.9% of survivors (P = 0.001), diabetes mellitus was diagnosed in 16.7% of non-survivors vs. 2.3% of survivors (P = 0.044), and the rate of hyperglycemia was 40% and 7.2%, respectively (P = 0.009). Heart rhythm disturbance was present in 50% of non-survivors vs. 6.4% of survivors (P < 0.001), and already at the time of admission to the hospital, the non-survivors had significantly higher heart and respiratory rates. Laboratory tests showed that non-survivors had higher erythrocytes sedimentation rate, C-reactive protein, leukocyte count, and D-dimer levels (P = 0.001, P < 0.001, P = 0.038, P = 0.014, respectively). The creatinine level was within the normal range in both study groups, but it was relatively higher in the deceased pregnant women (71.3; IQR: 66-251.75) vs. 52; IQR: 43-63; P = 0.001). Finally, a higher proportion of those who died presented with abnormal chest CT as compared with the survivors (33.3% vs. 4.2%, P < 0.001). Conclusions The deceased had a higher rate of comorbidities. Given the vulnerability of pregnant women to COVID-19, it is essential to plan a prospective study to provide insights into the factors that contribute to severe COVID-19 outcomes in pregnant women. Key messages • Determining risk factors for fatal COVID-19 is crucial for effective medical care of pregnant women. • Identifying potential risk factors of fatal COVID-19 among pregnant women could help inform public health policies and clinical guidelines.

A Multi-Modal Approach for A Healthier Weight and More Active Lifestyle

Abstract Background Obesity and overweight has been increasing globally and in the UK over the last few years, bringing along a wide array of challenges in health and wellbeing. Not only do they take a heavy toll on those affected, but obesity and overweight-related ill-health is costing the UK National Health Service £6.1 with projected costs to run up to £9.7 billion in 2050. This project aimed to apply artificial intelligence to identify the predictive indicators for obesity and co-create an intervention with public health practitioners and stakeholders. Methods Using health and wellbeing public health population data from the 2015, 2018 and 2022 from a city in the East Midlands, we applied artificial intelligence that uses machine learning techniques to discover insights, find hidden patterns and discover relationships in the data about engaging in physical activity and a healthy diet. The data on dietary choices and physical activity preferences were further analysed using advanced machine learning techniques. Results The outcomes from our machine learning process revealed patterns of physical activity engagement and diet from specific locations, along with a range of demographic variables that influence individuals’ patterns of physical ability and dietary practices. These findings, which will be presented in detail, have been integrated into a comprehensive city map. This map not only showcases opportunities for engaging in a healthy lifestyle but also aids in prioritising interventions in areas of greatest need. Conclusions The AI technology we employed allowed us to parameterise and generalise our findings with the possibility of scaling up the machine learning approach to other similar datasets. The findings facilitated the development of bespoke training for public health officers working with underserved communities, further demonstrating the impact of applying AI to inform the design of public health interventions. Key messages • Applying Artificial Intelligence to public health data has the potential to inform the development of effective interventions and increase precision. • Using AI in public health data can generate new insights into population health and well-being and inform public health policy.

Child-targeted foods in the Portuguese market 2024: Nutritional characteristics and claims

Abstract Background Excessive consumption of high-energy products with high saturated fats, sugars, and salt contents, contribute to the prevalence of overweight, obesity and other related diseases in Portugal, especially among children. Children represent a vulnerable group whose food choices are significantly influenced by advertisements and marketing methods that often promote highly palatable and less healthy foods. This study aimed to assess the nutritional characteristics of visually appealing products targeted at children in Portugal and analyse nutritional, health, and other mentions and claims, as well as icons present in the package. The goal is to contribute to the promotion of healthier food choices and inform public health policies. Methods Nutritional information and mentions/claims from child-targeted foods, featuring labels with cartoons and other appealing images, were collect. These were compared with the reference values (RV) of Integrated Strategy for the Promotion of Healthy Eating (EIPAS) and of Directorate-General of Health Label Decoder (RVLD), as well as the limit values (LV) defined by a Portuguese law related to restrictions on food advertising aimed at children. Results 247 products from six categories were monitored. Only 1.2% met the EIPAS RV for sugar and salt evaluated together, while 10.1% complied with the law LV. According to the RVLD, 19.0%, 26.3%, 49.4%, and 0.4% of the products presented high levels of fat, saturates, sugars, and salt, respectively. The majority of the products (68.0%) had one or more types of mentions/claims, predominantly nutritional (64.3%) and all featured one or more icons, with 10.5% being licensed. Conclusions The majority of these pre-packed child-target foods do not have a healthy nutrient profile. In this context, public health actions, namely legislative measures to further regulate food marketing and labeling elements aimed at children along with literacy and product reformulation initiatives are essential. Key messages • The child-targeted food products in the Portuguese market present inadequate nutritional profiles. • Public health actions are needed to promote healthier food choices and protect children from foodborne non-communicable diseases.

Environmental Public Health Tracking in England- support for Health Impact Assessments

Abstract Environmental epidemiology is a key function for the public health service with regards to investigating the public health effects of environmental hazards, monitoring the public health efforts to control the environmental risks, and providing the evidence that informs decisions making and preparedness. At the United Kingdom Health Security Agency (UKHSA), the Environmental Public Health Tracking (EPHT) Programme, initiated in 2010, has developed a number of data streams to help link environment and health data, to support Health Impact Assessment (HIA). The main aims of the EPHT programme in England are to: 1. Identify populations at risk from exposure to significant environmental and chemical hazards 2. Investigate relationships between hazard and disease 3. Inform public health policy making 4. Optimise intervention and prevention strategies 5. Generate hypotheses for further research. Such EPHT functions are based on three key components: a) by building a national EPHT program that integrates surveillance of environmental hazards, exposures and related health outcomes, to allow data linkage and assessment of environmental and health information; b) strengthening the epidemiology science, by conducting research and training of the workforce and c) developing strategies for response to immediate risks, incidents and preparing for future risks. Examples to support HIA include a) developing an air pollution exposure surveillance work programme, that has designed a pilot population vulnerability indicator; b) developing indicators for climate change impacts for public health, c) reporting regularly on the health impacts of public fluoridation water supply schemes (as mandated by Government) and d) exploring risk factors associated with elevated blood lead concentration in children, through laboratory reporting to surveillance systems. The talk will highlight some examples of practice and outline how the EPHT programme in England has supported HIA practices.

A genetically informed study reveals modifiable pathways in skin cancer

BackgroundIdentifying modifiable risk factors is essential for the prevention of skin cancer; however, establishing causality can be challenging in conventional epidemiological studies. This study aimed to determine the causal associations of potentially modifiable risk factors with skin cancer using Mendelian randomization (MR).MethodsGenetic instruments for 53 risk factors, including socioeconomic status, dietary and lifestyle factors, anthropometric measures, medication use, and comorbidities, were identified from previous genome-wide association studies. Two-sample MR analyses were performed using summary statistics for three major types of skin cancer: melanoma, basal cell carcinoma (BCC), and squamous cell carcinoma (SCC). Findings were verified using multiple MR methods under different assumptions and replication datasets.ResultsGenetic liability to sunburn occasions, actinic keratosis, and prior skin cancers was associated with a higher risk of all three types of skin cancer, whereas genetic liability to vitiligo was associated with a lower risk. For specific skin cancer types, genetically predicted higher nevus counts and occupational class were associated with an increased risk of melanoma. Genetic liability to rheumatoid arthritis, type 2 diabetes, and increased physical activity were associated with a lower risk of BCC. Genetically predicated body mass index showed a negative association with BCC, and a positive association with SCC.ConclusionsOur study reaffirmed several previously established risk factors and identified novel potential risk factors for skin cancer. Further work is needed to unravel the biological pathways in different skin cancer types and translate our findings to inform public health policies.

Uptake of HIV Testing Services among Refugee Men in Kiryandongo Refugee Settlement Camp, Mid-western Uganda

Aims: HIV testing is a critical checkpoint to late diagnosis and delayed treatment. However, utilization of HIV testing services has not yet reached the desired target, especially for men. This study aimed to determine the level of uptake of HIV testing services and the associated factors among refugee men in the Kiryandongo Refuge Settlement Camp. Study Design: Cross-sectional by mixed methods. Methodology: The study was conducted by mixed methods. A total of 422 men >18 years were selected using systematic random sampling. Interview administered semi-structured - questionnaires and informant interview guides were used to collect quantitative and qualitative data respectively. Results: The level of uptake of HIV testing services was 32%. Key factors negatively associated with the testing included social-cultural status (P=0.006, AOR=3.80) disclosure of positive results and awareness (P=0.002, AOR=0.14 and P=0.000, AOD=0.08) respectively, unemployment (P=0.015, AOR=0.17), religion (P=0.043, AOD=0.37) and multiple sexual partners (P=0.033, AOR=0.23). Conclusion: The level of uptake of HIV testing services among refugee men in the Kiryandongo refugee settlement camp is significantly lower than the national mark. Targeted testing strategies and sensitization are critical to address the negatively associated factors and inform public health policies.

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

PurposeTo date, approximately 1400 inherited metabolic disorders (IMDs) have been described, some of which are treatable. It is estimated that 2% to 3% of live births worldwide are affected by treatable IMDs. Roughly 80% of IMDs are autosomal recessive, leading to a potentially higher incidence in regions with high consanguinity. MethodologyThe study utilized genome sequencing data from 14,060 adult Qatari participants who were recruited by the Qatar Biobank and sequenced by the Qatar Genome Program. The genome sequencing data were analyzed for 125 nuclear genes known to be associated with 115 treatable IMDs. ResultsOur study identified 253 pathogenic/likely pathogenic single-nucleotide variations associated with 69 treatable IMDs, including 211 known and 42 novel predicted loss-of-function variants. We estimated that approximately 1 in 13 unrelated individuals (8%) carry a heterozygous pathogenic variant for at least 1 of 46 treatable IMDs. Notably, phenylketonuria/hyperphenylalaninemia and homocystinuria had among the highest carrier frequencies (1 in 68 and 1 in 85, respectively). ConclusionPopulation-based studies of treatable IMDs, particularly in globally under-studied populations, can identify high-frequency alleles segregating in the community and inform public health policies, including carrier and newborn screening.

Exploring the genomic traits of infant-associated microbiota members from a Zimbabwean cohort

IntroductionOur understanding of particular gut microbiota members such as Bifidobacterium and Enterococcus in low-middle-income countries remains very limited, particularly early life strain-level beneficial traits. This study addresses this gap by exploring a collection of bacterial strains isolated from the gut of Zimbabwean infants; comparing their genomic characteristics with strains isolated from infants across North America, Europe, and other regions of Africa.Materials and methodFrom 110 infant stool samples collected in Harare, Zimbabwe, 20 randomly selected samples were used to isolate dominant early-life gut microbiota members Bifidobacterium and Enterococcus. Isolated strains were subjected to whole genome sequencing and bioinformatics analysis including functional annotation of carbohydrates, human milk oligosaccharide (HMO) and protein degradation genes and clusters, and the presence of antibiotic resistance genes (ARGs).ResultsThe study observed some location-based clustering within the main five identified taxonomic groups. Furthermore, there were varying and overall species-specific numbers of genes belonging to different GH families encoded within the analysed dataset. Additionally, distinct strain- and species-specific variances were identified in the potential of Bifidobacterium for metabolizing HMOs. Analysis of putative protease activity indicated a consistent presence of gamma-glutamyl hydrolases in Bifidobacterium, while Enterococcus genomes exhibited a high abundance of aspartyl peptidases. Both genera harboured resistance genes against multiple classes of antimicrobial drugs, with Enterococcus genomes containing a higher number of ARGs compared to Bifidobacterium, on average.ConclusionThis study identified promising probiotic strains within Zimbabwean isolates, offering the potential for early-life diet and microbial therapies. However, the presence of antibiotic resistance genes in infant-associated microbes raises concerns for infection risk and next-stage probiotic development. Further investigation in larger cohorts, particularly in regions with limited existing data on antibiotic and probiotic use, is crucial to validate these initial insights.Impact statementThis research represents the first investigation of its kind in the Zimbabwean context, focusing on potential probiotic strains within the early-life gut microbiota. By identifying local probiotic strains, this research can contribute to the development of probiotic interventions that are tailored to the Zimbabwean population, which can help address local health challenges and promote better health outcomes for infants. Another essential aspect of the study is the investigation of antimicrobial resistance genes present in Zimbabwean bacterial strains. Antimicrobial resistance is a significant global health concern, and understanding the prevalence and distribution of resistance genes in different regions can help inform public health policies and interventions.

Pediatric sport and nonsport concussions presenting to emergency departments: injury circumstances, characteristics, and clinical management.

The aim of this study was to compare injury circumstances, characteristics, and clinical management of emergency department (ED) presentations for sports-related concussion (SRC) and non-SRC. This multicenter prospective observational study identified patients 5-17 years old who presented to EDs within 24 hours of head injury, with one or more signs or symptoms of concussion. Participants had a Glasgow Coma Scale score of 13-15 and no abnormalities on CT (if performed). Data were stratified by age: young children (5-8 years), older children (9-12 years), and adolescents (13-17 years). Of 4709 patients meeting the concussion criteria, non-SRC accounted for 56.3% of overall concussions, including 80.9% of younger child, 51.1% of older child, and 37.0% of adolescent concussions. The most common mechanism of non-SRC was falls for all ages. The most common activity accounting for SRC was bike riding for younger children, and rugby for older children and adolescents. Concussions occurring in sports areas, home, and educational settings accounted for 26.2%, 21.8%, and 19.0% of overall concussions. Concussions occurring in a sports area increased with age, while occurrences in home and educational settings decreased with age. The presence of amnesia significantly differed for SRC and non-SRC for all age groups, while vomiting and disorientation differed for older children and adolescents. Adolescents with non-SRC were admitted to a ward and underwent CT at higher proportions than those with SRC. Non-SRC more commonly presented to EDs overall, with SRC more common with increasing age. These data provide important information to inform public health policies, guidelines, and prevention efforts.

Climate Change and Psychiatry: The Correlation between the Mean Monthly Temperature and Admissions to an Acute Inpatient Unit.

Psychiatric disorders are large contributors to the global disease burden, but research on the impact of climate change on them is limited. Our aim is to investigate the correlation between temperature and exacerbations of psychiatric disorders to help inform clinical management and future public health policies. Temperature records for the summer months from 2013 to 2022 were obtained from the meteorological station of the Department of Physics of Turin University. Data on patients admitted to the acute psychiatric unit were extracted from registries of San Luigi Gonzaga University Hospital (Turin, Italy). Regression analyses were used to investigate the correlation between temperature and number of admissions and to test for confounding variables. A total of 1600 admissions were recorded. The monthly temperature and number of admissions were directly correlated (p = 0.0020). The correlation was significant for the subgroup of admissions due to Bipolar Disorders (p = 0.0011), but not for schizophrenia or major depressive disorder. After multiple regression analyses, the effect of temperature remained significant (p = 0.0406). These results confirm the impact of meteorological factors on mental disorders, particularly on BD. This can contribute to personalised follow-up and efficient resource allocation and poses grounds for studies into etiopathological mechanisms and therapeutic implications.

Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg

Abstract Objectives Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases that impact normal immune development and function. Individual IEI are rare, but collectively, can represent an important health burden. Little is known about the types of IEI seen in Canadian First Nations (FN) and Inuit populations. We sought to understand the spectrum of serious IEI in FN and Nunavut Inuit children, as a starting point for improving the awareness of these conditions in the community and for health care workers. Methods A questionnaire was distributed to participating Canadian pediatric tertiary-care centers. Providers were asked to report cases of confirmed or suspected severe immunodeficiencies seen in FN and Nunavut Inuit children. Results From 2004 to 2022, IEI were reported in 63 FN and 21 Inuit children by 4 pediatric hospitals across 3 Canadian provinces. The majority of cases were immunodeficiencies affecting cellular and humoral immunity (62% of cases in FN and 57% in Inuit children). IKBKB deficiency, adenosine-deaminase severe combined immune deficiency (SCID), and chronic granulomatous disease were the most common IEI. A wide variety of other IEI was reported, many of which would not be detected by current newborn screening for SCID and for which live-attenuated vaccines would have been contraindicated. Conclusions IEI occur in FN and Inuit children and may be underrecognized. Better understanding the prevalence of these conditions in specific communities could help inform public health policies including newborn screening and immunization programs and ultimately improve the health of FN and Inuit children in Canada.

Severe Avian Influenza A H5N1 Clade 2.3.4.4b Virus Infection in a Human with Continuation of SARS-CoV-2 Viral RNAs

Background. Since 2020, global attention has heightened towards epidemics caused by avian influenza A H5N1 virus of clade 2.3.4.4b in birds and mammals. This study presents the epidemiological history, clinical manifestations, and prognosis of a unique case infected with avian influenza A H5N1 clade 2.3.4.4b, along with the continuation of SARS-CoV-2 viral RNAs, in Eastern China. Methods. We collected and analysed the patient’s clinical, epidemiological, and virological data. Both sputum and bronchoalveolar lavage fluid (BALF) samples were subjected to real-time RT-PCR to test for respiratory pathogens of interests, including SARS-CoV-2 and influenza virus. Influenza virus isolation and propagation were performed on embryonated eggs. Serological tests were used to determine the presence of SARS-CoV-2 antibodies. Phylogenetic analysis was constructed to explore viral evolution and origin of A/H5N1 virus. Results. A 53-year-old female farmer with chronic bronchiectasis was hospitalized with severe pneumonia. Real-time RT-PCR revealed the presence of avian influenza A H5N1 and SARS-CoV-2 in BALF and sputum samples. Sequence analyses classified the human isolate as clade 2.3.4.4b of avian influenza A H5N1. The amino acid motif GlnSerGly at residues 226–228 of the haemagglutinin protein indicated avian-like receptor binding preference. Epidemiological investigation established that the patient had exposure to sick or dead poultry 3 days before illness onset, while no cases of human-to-human H5N1 virus transmission were identified in 31 close contacts. Conclusion. We presented that the clade 2.3.4.4b H5N1 avian influenza virus has the potential to cross-infect humans with serious symptoms, especially in individuals already affected by COVID-19. It is indeed crucial to closely monitor the virus’s evolution in both avian populations and humans. Continued research and surveillance efforts are vital to monitor any potential changes in the virus, as well as to inform public health policies and interventions.

Sharing sensitive data in life sciences: an overview of centralized and federated approaches.

Biomedical data are generated and collected from various sources, including medical imaging, laboratory tests and genome sequencing. Sharing these data for research can help address unmet health needs, contribute to scientific breakthroughs, accelerate the development of more effective treatments and inform public health policy. Due to the potential sensitivity of such data, however, privacy concerns have led to policies that restrict data sharing. In addition, sharing sensitive data requires a secure and robust infrastructure with appropriate storage solutions. Here, we examine and compare the centralized and federated data sharing models through the prism of five large-scale and real-world use cases of strategic significance within the European data sharing landscape: the French Health Data Hub, the BBMRI-ERIC Colorectal Cancer Cohort, the federated European Genome-phenome Archive, the Observational Medical Outcomes Partnership/OHDSI network and the EBRAINS Medical Informatics Platform. Our analysis indicates that centralized models facilitate data linkage, harmonization and interoperability, while federated models facilitate scaling up and legal compliance, as the data typically reside on the data generator's premises, allowing for better control of how data are shared. This comparative study thus offers guidance on the selection of the most appropriate sharing strategy for sensitive datasets and provides key insights for informed decision-making in data sharing efforts.

Research outcomes informing the selection of public health interventions and strategies to implement them: A cross-sectional survey of Australian policy-maker and practitioner preferences

BackgroundA key role of public health policy-makers and practitioners is to ensure beneficial interventions are implemented effectively enough to yield improvements in public health. The use of evidence to guide public health decision-making to achieve this is recommended. However, few studies have examined the relative value, as reported by policy-makers and practitioners, of different broad research outcomes (that is, measures of cost, acceptability, and effectiveness). To guide the conduct of research and better inform public health policy and practice, this study aimed at describing the research outcomes that Australian policy-makers and practitioners consider important for their decision-making when selecting: (a) public health interventions; (b) strategies to support their implementation; and (c) to assess the differences in research outcome preferences between policy-makers and practitioners.MethodAn online value-weighting survey was conducted with Australian public health policy-makers and practitioners working in the field of non-communicable disease prevention. Participants were presented with a list of research outcomes and were asked to select up to five they considered most critical to their decision-making. They then allocated 100 points across these – allocating more points to outcomes perceived as more important. Outcome lists were derived from a review and consolidation of evaluation and outcome frameworks in the fields of public health knowledge translation and implementation. We used descriptive statistics to report relative preferences overall and for policy-makers and practitioners separately.ResultsOf the 186 participants; 90 primarily identified as policy-makers and 96 as public health prevention practitioners. Overall, research outcomes of effectiveness, equity, feasibility, and sustainability were identified as the four most important outcomes when considering either interventions or strategies to implement them. Scores were similar for most outcomes between policy-makers and practitioners.ConclusionFor Australian policy-makers and practitioners working in the field of non-communicable disease prevention, outcomes related to effectiveness, equity, feasibility, and sustainability appear particularly important to their decisions about the interventions they select and the strategies they employ to implement them. The findings suggest researchers should seek to meet these information needs and prioritize the inclusion of such outcomes in their research and dissemination activities. The extent to which these outcomes are critical to informing the decision of policy-makers and practitioners working in other jurisdictions or contexts warrants further investigation.