Large-scale Studies Research Articles

Diminished functional segregation and resilience are associated with symptomatic severity and cognitive impairments in schizophrenia: a large-scale study

BackgroundThe research findings on the topological properties of functional connectomes (TP-FCs) in patients with schizophrenia (SZPs) exhibit inconsistencies and contradictions, which can be attributed to limitations such as small sample...

Association of cannabis use disorder with atrial fibrillation in young men without concomitant tobacco use: Insights from nationwide propensity matched analysis

BACKGROUND Recent data are inconclusive regarding the risk of arrhythmias among young cannabis users. Furthermore, many young adults use both cannabis and tobacco, which could add a residual confounding effect on outcomes. So, we studied young men who have cannabis use disorder (CUD) excluding tobacco use disorder (TUD) to understand their independent association with atrial fibrillation (AF) and related outcomes. AIM To study the association of CUD with AF and related outcomes. METHODS We used weighted discharge records from National Inpatient Sample (2019) to assess the baseline characteristics and mortality rates for AF-related hospitalizations in young (18-44 years) men in 1:1 propensity-matched CUD + vs CUD- cohorts without TUD. RESULTS Propensity matched CUD + and CUD- cohorts consisted of 108495 young men in each arm. Our analysis showed an increased incidence of AF in black population with CUD. In addition, the CUD + cohort had lower rates of hyperlipidemia (6.4% vs 6.9%), hypertension (5.3% vs 6.3%), obesity (9.1% vs 10.9%), alcohol abuse (15.5% vs 16.9%), but had higher rates of anxiety (24.3% vs 18.4%) and chronic obstructive pulmonary disease (COPD) (9.8% vs 9.4%) compared to CUD-cohort. After adjustment with covariates including other substance abuse, a non-significant association was found between CUD + cohort and AF related hospitalizations (odd ratio: 1.27, 95% confidence interval: 0.91-1.78, P = 0.15). CONCLUSION Among hospitalized young men, the CUD + cohort had a higher prevalence of anxiety and COPD, and slightly higher proportion of black patients. Although there were higher odds of AF hospitalizations in CUD + cohort without TUD, the association was statistically non-significant. The subgroup analysis showed higher rates of AF in black patients. Large-scale prospective studies are required to evaluate long-term effects of CUD on AF risk and prognosis without TUD and concomitant substance abuse.

Health survey on anxiety, depression, and stress in Afghanistan: A large-scale cross-sectional study amid ongoing challenges

BackgroundOne of the most significant events in recent Afghan history is the rise of the Taliban and the war that followed, which had profound impacts on the lives of Afghans. The present study examined the mental health of Afghans living under the Taliban government.MethodsBetween June 5, 2023 and February 12, 2024, a cross-sectional study was conducted among the Afghan population in three key regions of Afghanistan. Data were collected using a pre-tested structured questionnaire. The 21-item Depression, Anxiety and Stress scale (DASS-21) was utilized to assess depression, anxiety and stress of the Afghan population. Ethical permission for this study was granted by the Afghanistan Center for Epidemiological Studies (ACES). Logistic regression models were employed to explore the relationship between socio-demographic characteristics and depression, anxiety, and stress among 2,698 participants.ResultsThe prevalence of depression was 72.05%, anxiety was 71.94%, and stress was 66.49%. Multiple regression analysis indicated that gender (being female), economic status (being poor), residency (living in rural areas), education level (being illiterate), being a cigarette smoker, and having experienced a bad event during the past month were significantly associated with depression, anxiety and stress.ConclusionThe findings of the present study show very high levels of anxiety, depression, and stress, most likely reflecting the profound impact of recent political, social, and economic changes. Notably, a significant majority of participants, particularly females and individuals above 35 years of age, reported severe to extremely severe mental health symptoms. The mental health crisis in Afghanistan is a complex and urgent issue that requires a comprehensive and compassionate response.

Exploiting Speech Tremors: Machine Learning for Early Diagnosis of Amyotrophic Lateral Sclerosis

Abstract Neurodegenerative diseases pose significant challenges in healthcare, with Amyotrophic Lateral Sclerosis (ALS) being one such rare yet debilitating condition affecting motor neurons. Machine learning (ML) and artificial intelligence (AI) have emerged as powerful tools in healthcare, offering insights and solutions for various medical conditions. This study focuses on utilizing ML and AI to establish an early diagnosis of ALS through tremor detection in sustained speech. The study aims to establish an early diagnosis of ALS by analyzing tremors detected in sustained speech. The dataset comprises 54 patients from the Republican Research and Clinical Centre of Neurology and Neurosurgery in Belarus, Minsk. The study adopts a two-faceted approach: (1) Exploratory voice analysis to identify tremors associated with ALS in speech samples. (2) Development of ML algorithms to construct predictive models for early ALS diagnosis based on the identified tremors. The ML models exhibit promising results in distinguishing ALS patients from healthy controls based on speech analysis. Tremor detection in sustained speech proves to be an effective marker for early ALS diagnosis. While initial findings are encouraging, larger-scale studies are required to validate the clinical applicability of this approach. The successful application of ML and AI in early ALS diagnosis by leveraging innovative approaches, such as tremor detection in sustained speech, we can enhance early diagnosis and improve patient outcomes in neurodegenerative diseases like ALS on a broader scale.

The efficacy and safety of isotonic and hypotonic fluids in intravenous maintenance fluid therapy in term newborns: national multicenter observational “neofluid” study

ObjectiveThe objective of this study was to evaluate the efficacy and safety of isotonic and hypotonic intravenous fluids in maintenance fluid therapy for term infants.MethodsThis was a multi-centre, prospective, observational study conducted in 21 participating centres from December 30, 2020, to June 30, 2023. The study included term newborns requiring parenteral fluid therapy for maintenance (NCT04781361). The fluid treatment was divided into two groups based on the concentration of sodium in the parenteral fluid, designated as hypotonic (NaCl <130 mmol/L) and isotonic (NaCl = 130–154 mmol/L). The primary outcomes were the change in mean plasma sodium (pNa) levels per hour (∆pNa mmol/L/h), the incidence of hyponatremia (pNa <135 mmol/L) and hypernatremia (pNa >145 mmol/L), and the occurrence of clinically significant changes in sodium levels (∆pNa >0.5 mmol/L/h).ResultsA total of 420 patients from 21 centers were included. The ∆pNa was negative in the hypotonic fluid group and positive in the isotonic fluid group, with a significant difference between the groups [respectively −0.07 ± 0.03 (95% CI: −0.13 to −0.02); 0.04 ± 0.03 (95%CI: −0.02 to 0.09), p = 0.04]. There was no difference between the groups in terms of the development of hypernatremia or a clinically meaningful pNa increase. The hypotonic fluid group had a higher incidence of hyponatremia and a clinically meaningful sodium decrease compared to the isotonic fluid group [7.9% vs. 1.2% (OR:6.5, p:0.03)] and [12.2% vs.4.2% (OR:2.9, p = 0.03)].ConclusionContrary to current understanding, this large-scale study is the first to demonstrate that the use of hypotonic fluids in maintenance fluid therapy for newborns poses a risk of hyponatremia development, whereas isotonic fluid therapy appears safe.

Predominance of blaNDM- and blaIMP-Harboring Escherichia coli Belonging to Clonal Complexes 131 and 23 in a Major University Hospital

Background and Objectives: Carbapenem resistance is a growing global challenge for healthcare, and, therefore, monitoring its prevalence and patterns is crucial for implementing targeted interventions to mitigate its impact on patient outcomes and public health. This study aimed to determine the prevalence of carbapenem resistance among Escherichia coli (E. coli) strains in the largest tertiary care hospital of the capital territory of Pakistan and to characterize the isolates for the presence of antimicrobial resistance genes. Additionally, the most prevalent sequence types were analyzed. Materials and Methods: A total of 15,467 clinical samples were collected from November 2020 to May 2022, underwent antimicrobial susceptibility testing, and were analyzed for antimicrobial resistance genes through conventional PCR and sequence typing using MLST. Results: In carbapenem-resistant E. coli (CR-EC), 74.19% of isolates harbored the blaNDM gene, with blaNDM-1 (66.96%), blaNDM-5 (12.17%), and blaNDM-7 (20.87%) variants detected. Additionally, blaIMP was found in 25.81% and blaOXA-48 in 35.48% of isolates. The presence of blaCTX-M15 and blaTEM was identified in 83.87% and 73.55% of CR-EC isolates, respectively, while armA and rmtB were detected in 40% and 65.16% of isolates, respectively. Colistin and tigecycline were the most effective drugs against CR-EC isolates, with both showing an MIC50 of 0.5 µg/mL. The MIC90 for colistin was 1 µg/mL, while for tigecycline, it was 2 µg/mL. MLST analysis revealed that the CR-EC isolates belonged to ST131 (24.52%), ST2279 (23.87%), ST3499 (16.13%), ST8051 (15.48%), ST8900 (9.68%), ST3329 (7.10%), ST88 (1.94%), and ST6293 (1.29%). The ST131 complex (70.97%) was the most prevalent, harboring 95.65% of the blaNDM gene, while the ST23 complex (18.06%) harbored 62.50% of the blaIMP gene. Conclusions: Implementing large-scale surveillance studies to monitor the spread of specific pathogens, along with active infection control policies, is crucial for the effective containment and prevention of future epidemics.

Associating plasma aldosterone concentration with the prevalence of MAFLD in hypertensive patients: insights from a large-scale cross-sectional study

ObjectiveTo explore the link between plasma aldosterone concentration (PAC) and the prevalence of metabolic dysfunction-related fatty liver disease (MAFLD) in hypertensive patients.MethodsWe analyzed data from 41,131 hospitalized patients from January 1, 2014, to December 31, 2023. Multivariate logistic regression models tested associations, with threshold, subgroup, and sensitivity analyses conducted to validate findings.ResultsFor each 5-unit increase in PAC, the risk of MAFLD rose by 1.57 times, consistent even in the fully adjusted model. The odds ratios for the Q2, Q3, and Q4 groups compared to Q1 were 1.21, 2.12, and 3.14, respectively. A threshold effect was observed at 14 ng/dL, with subgroup and sensitivity analyses supporting these results.ConclusionsThis study reveals a significant positive association between elevated PAC levels and the prevalence of MAFLD in hypertensive patients. These findings underscore the imperative for further large-scale, prospective studies to validate and expand upon this correlation.

Supplemental Material for Better Sleep, Lower Blood Pressure, and Less Stress Following Sex: Findings From a Large-Scale Ecological Momentary Assessment Study

Supplemental Material for Better Sleep, Lower Blood Pressure, and Less Stress Following Sex: Findings From a Large-Scale Ecological Momentary Assessment Study

Incidence and Risk of Depressive Disorder in Patients With Retinitis Pigmentosa

ImportanceThere is a lack of large-scale clinical studies exploring mental health among patients with retinitis pigmentosa (RP). Additionally, few studies have evaluated the associations of visual impairment with mental health in young patients.ObjectiveTo investigate the association between depressive disorder and RP.Design, Setting, and ParticipantsThis was a retrospective, nationwide, population-based cohort study using data obtained from the Health Insurance Review and Assessment service in Korea between 2008 and 2022. A total of 10 879 individuals who were newly diagnosed with RP between January 2011 and December 2021, as verified by both the RP registration code (National Registry of Rare and Intractable Disease in Korea code V209) and diagnostic code (International Statistical Classification of Diseases, 10th Revision code H35.51), were included. Data analysis was performed from October 2023 to January 2024.ExposureDiagnosis of RP.Main Outcomes and MeasuresParticipants were categorized into 3 groups based on age at diagnosis (<20, 20-39, and ≥40 years). The incidence of depressive disorder in RP was determined after excluding those diagnosed with depressive disorder prior to RP diagnosis. Age- and sex-adjusted standardized incidence ratios (SIRs) of depressive disorder in patients with RP compared with the general population were calculated. Subgroup analyses by sex and age group were conducted.ResultsA total of 10 879 patients (638 aged <20 years, 2233 aged 20-39 years, and 8008 aged ≥40 years; 5710 [52.5%] female) newly diagnosed with RP between 2011 and 2021 were included. The 10-year cumulative incidence of depressive disorder was 17.67% (95% CI, 16.57%-18.84%) in patients with RP. Subgroup analysis showed higher incidence of depressive disorder in female patients (hazard ratio [HR], 1.46; 95% CI, 1.29-1.65; P < .001) and those aged 40 years or older (HR, 1.93; 95% CI, 1.63-2.29; P < .001). The overall SIR of depressive disorder in patients with RP was 1.19 (95% CI, 1.12-1.27; P < .001), indicating a higher risk of depressive disorder compared with that in the general population. Both male and female patients with RP showed increased incidence rates of depressive disorder (17.53 [95% CI, 15.91-19.27] and 25.57 [95% CI, 23.58-27.67] per 1000 person-years, respectively) and increased SIRs of depressive disorder (1.21 [95% CI, 1.10-1.33] and 1.18 [95% CI, 1.09-1.28], respectively) (all P < .001) compared with the general population. Subgroup analysis by age group showed that the SIR peaked in patients in their 20s (1.50; 95% CI, 1.17-1.90; P = .006) and aged 60 years or older (1.25; 95% CI, 1.14-1.37; P < .001).Conclusions and RelevanceIndividuals diagnosed with RP had a higher risk of developing depressive disorder. These findings support consideration of providing emotional and social support to patients with RP.

Unraveling the genomic diversity and admixture history of captive tigers in the United States

Genomic studies of endangered species have primarily focused on describing diversity patterns and resolving phylogenetic relationships, with the overarching goal of informing conservation efforts. However, few studies have investigated genomic diversity housed in captive populations. For tigers ( Panthera tigris ), captive individuals vastly outnumber those in the wild, but their diversity remains largely unexplored. Privately owned captive tiger populations have remained an enigma in the conservation community, with some believing that these individuals are severely inbred, while others believe they may be a source of now-extinct diversity. Here, we present a large-scale genetic study of the private (non-zoo) captive tiger population in the United States, also known as “Generic” tigers. We find that the Generic tiger population has an admixture fingerprint comprising all six extant wild tiger subspecies. Of the 138 Generic individuals sequenced for the purpose of this study, no individual had ancestry from only one subspecies. We show that the Generic tiger population has a comparable amount of genetic diversity relative to most wild subspecies, few private variants, and fewer deleterious mutations. We observe inbreeding coefficients similar to wild populations, although there are some individuals within both the Generic and wild populations that are substantially inbred. Additionally, we develop a reference panel for tigers that can be used with imputation to accurately distinguish individuals and assign ancestry with ultralow coverage (0.25×) data. By providing a cost-effective alternative to whole-genome sequencing (WGS), the reference panel provides a resource to assist in tiger conservation efforts for both ex- and in situ populations.

Bone destruction of orbital wall in idiopathic orbital inflammatory pseudotumor: does it always imply malignancy?

To assess the clinical presentations and outcomes of idiopathic orbital inflammatory pseudotumor (IOIP) patients with orbital wall bone destruction (OWBD) and to propose an expanded classification system that includes bone destruction. The study retrospectively reviewed clinical presentations, imaging findings, treatment modalities, and outcomes of six patients diagnosed histopathologically with IOIP and OWBD at the Beijing Tongren Hospital, Capital Medical University between October 2018 and June 2021. Over two years, 6 (10%) of 60 IOIP patients at our hospital exhibited OWBD, but this may overrepresent severe cases. The cohort consisted of three men and three women, aged 17 to 60y (mean 35.5±16.1y). Presenting symptoms included proptosis, eyelid swelling, decreased visual acuity with pain, and palpable mass. Imaging revealed multiple anatomical structures involved with the medial wall being the most common site of bone destruction. Histopathological examination showed classic type in five patients and sclerosing type in one patient. All patients underwent surgical resection followed by methylprednisolone treatment. Follow-up (mean 30.3±3.1mo) indicated three patients had no recurrence, while others had varying degrees of symptom persistence or recurrence. IOIP with bone destruction is a rare but significant subtype that mimics malignancy, leading to potential diagnostic and therapeutic challenges. Our findings suggest that complete surgical resection combined with adjunctive glucocorticoid therapy can yield favorable outcomes. However, larger-scale studies are needed to further optimize therapeutic approaches.

Distribution of ABO and D antigen expression in Yogyakarta, Java Island: a pioneer large-scale study in Indonesia

ObjectiveHere, we sought to report ABO and D antigen distribution in blood donors from Yogyakarta, Java Island, Indonesia. Phenotype data (ABO/D) from donors who donated blood between January 1, 2018, and December 31, 2023, at the Yogyakarta Blood Donor Unit were extracted from the blood donor registry, and phenotype frequency was calculated subsequently.ResultsIn the 245,307 blood donors collected over six years, ABO phenotype frequency: O (frequency: 38.5%) > B (29.4%) > A (24.1%) > AB (8.0%). The D-positive phenotype was far more common (99.5%) than the D-negative phenotype (0.5%). The phenotypic pattern globally is similar to previous reports in Southeast Asia. The D antigen distribution is similar to world distribution as the most common blood group. For the first time in Indonesia, this distribution of ABO and D phenotype is reported in a large-scale study. This work is a pioneer in the coordinated optimization of transfusion guidelines at the national level.

Plasma fatty acid levels and risk of non-small cell lung cancer: a large-scale prospective cohort study

BackgroundNon-small cell lung cancer (NSCLC) ranks among the most prevalent and lethal malignancies globally. Fatty acids (FAs) play a significant role in diverse physiological and pathological mechanisms, yet their precise involvement in NSCLC remains poorly understood.MethodsThis study utilized a large-scale prospective cohort of 249,132 participants, observed over an average of 12 years, to investigate the relationship between different FAs and NSCLC risk. Analytical approaches included Cox proportional hazards regression, Kaplan–Meier survival analysis, accelerated failure time (AFT) modeling, and restricted cubic spline (RCS) analysis.ResultsDuring the follow-up period, 1,460 participants were diagnosed with NSCLC. Cox regression analysis demonstrated that elevated levels of docosahexaenoic acid (DHA), linoleic acid (LA), and omega-3 were inversely associated with NSCLC risk. Kaplan–Meier curves, along with AFT models, corroborated that elevated concentrations of DHA and LA significantly delayed NSCLC onset. Additionally, RCS analysis uncovered nuanced dose–response relationships between these FAs and NSCLC. Stratified analyses highlighted variability based on smoking status, gender, and body mass index subgroups.ConclusionThe concentration of specific FAs exhibits a significant association with NSCLC risk. These results offer a foundation for devising dietary FA composition adjustments aimed at reducing NSCLC risk.

Own goals in football: do they occur randomly or exhibit systematic patterns?

ABSTRACT Due to the low-scoring nature of soccer every single goal can drastically change the outcome of a match. Therefore, most large-scale performance studies aim at defining systematic processes and factors involved in goal scoring, while the scoring of the seemingly unintentional goals (like own goals) appears to be overlooked so far. In this study, factors for scoring own goals are investigated and compared to the factors connected to other (normal) goals. Therefore, a large dataset consisting of all goals from seven full seasons of the English Premier League (seasons 12/13 to 18/19) was analysed. Factors investigated include a priori factors like matchday, playing minute and team strength, but also specific situational variables like the zone from where the goal was scored, the body parts used, scoreline, defensive order and the preceding action. Favourites (p < .001) and home teams (p <0.05) profit more often from own goals than outsiders and away teams, suggesting systematic influences on own goal scoring. However, own goals significantly differ from all goals in the zone of goal scoring where more than 50% of the own goals are scored from the zone closest to goal (Zone 1). Additional aspects and potential reasons for the observed patterns are discussed.

Gene discovery and biological insights into anxiety disorders from a large-scale multi-ancestry genome-wide association study.

We leveraged information from more than 1.2 million participants, including 97,383 cases, to investigate the genetics of anxiety disorders across five continental groups. Through ancestry-specific and cross-ancestry genome-wide association studies, we identified 51 anxiety-associated loci, 39 of which were novel. In addition, polygenic risk scores derived from individuals of European descent were associated with anxiety in African, admixed American and East Asian groups. The heritability of anxiety was enriched for genes expressed in the limbic system, cerebral cortex, cerebellum, metencephalon, entorhinal cortex and brain stem. Transcriptome-wide and proteome-wide analyses highlighted 115 genes associated with anxiety through brain-specific and cross-tissue regulation. Anxiety also showed global and local genetic correlations with depression, schizophrenia and bipolar disorder and widespread pleiotropy with several physical health domains. Overall, this study expands our knowledge regarding the genetic risk and pathogenesis of anxiety disorders, highlighting the importance of investigating diverse populations and integrating multi-omics information.

Cardiometabolic index is associated with increased bone mineral density: a population-based cross-sectional study

BackgroundOsteoporosis is a multifactorial bone disease in which lipid metabolism plays an important role. Bone Mineral Density (BMD) measured by Dual-energy X-ray Absorptiometry (DXA) is a critical indicator for diagnosing osteoporosis. The cardiometabolic index (CMI) is a novel metric that combines two quantitative indicators of blood lipids—triglycerides (TG) and high-density lipoprotein cholesterol (HDL-C). This study explores the association between CMI and BMD and seeks to elucidate the role of lipid metabolism in the context of bone health.MethodsBased on the data of the National Health and Nutrition Examination Survey (NHANES) 2017–March 2020-pre-pandemic, weighted multiple linear regression and smooth curve fitting were used to study the relationship between CMI and femoral BMD. Stratified analyses were also conducted for age, gender, BMI, ethnicity, diabetes and hypertension status. And, the saturation threshold effect of CMI was further analyzed using a two-stage linear regression model.ResultThis study enrolled a total of 1,650 participants (48.7% males), with an average age of 63.0 ± 8.6 years. After adjusting for multiple confounding factors, CMI was positively correlated with total femur BMD, trochanter BMD, and intertrochanter BMD, while the correlation with femur neck BMD was not statistically significant. In the fully adjusted model, each unit increase in CMI was associated with a 0.026 (g/cm2) increase in total femur BMD, a 0.022 (g/cm2) increase in trochanter BMD, and a 0.034 (g/cm2) increase in intertrochanter BMD. Subjects in the highest quartile of CMI had a 0.034 (g/cm2) increase in total femur BMD, a 0.035 (g/cm2) increase in trochanter BMD, and a 0.039 (g/cm2) increase in intertrochanter BMD in the fully-adjusted model compared to those in the lowest quartile. In addition, saturation was observed between CMI and total femur BMD, trochanter BMD and intertrochanter BMD, with saturation thresholds of 1.073, 1.431 and 1.073, respectively.ConclusionCMI is strongly associated with BMD, indicating its potential relevance in bone metabolism. However, the role of CMI in the context of bone health, especially regarding osteoporosis risk, requires further investigation in large-scale prospective studies.

Exploring the Link Between Genetic Predictors of Cardiovascular Disease and Psoriasis.

The epidemiological link between immune-mediated diseases (IMIDs) and cardiovascular disease has often been attributed to systemic inflammation. However, the direction of causality and the biological mechanisms linking cardiovascular disease with IMIDs are incompletely understood. Given the robust epidemiological association and the growing body of supportive mechanistic evidence, psoriasis is an exemplary IMID model for exploring this relationship. To assess the bidirectional relationships between genetic predictors of psoriasis and the 2 major forms of cardiovascular disease, coronary artery disease (CAD) and stroke, and to evaluate the association between genetic predictors of cardiovascular disease with 9 other IMIDs. This was a genetic association study using mendelian randomization (MR), a powerful genetic tool to help distinguish causation from associations observed in epidemiological studies, to provide supportive evidence for causality between traits. The study conducted 2-sample MR analyses using summary-level data from large-scale genome-wide association meta-analysis studies (GWAS) for each trait. The analysis focused on individuals of European descent from GWAS meta-analyses, involving CAD, stroke, psoriasis, and 9 other IMIDs. Data were analyzed from January 2023 to May 2024. Genetic predictors of CAD, stroke, psoriasis, and 9 other IMIDs. The primary outcomes were the associations of genetic predictors of CAD and stroke with the risk of psoriasis and 9 other IMIDs, determined using inverse-variance weighted (IVW) MR estimates. This study included 181 249 cases and 1 165 690 controls with CAD, 110 182 cases and 1 503 898 controls with stroke, 36 466 cases and 458 078 controls with psoriasis, for a total of approximately 3 400 000 individuals, and 9 other IMIDs. In contrast to previous assumptions, genetic predictors of psoriasis were found to have no association with CAD or stroke. In the reverse direction, genetic predictors of both CAD (MR estimate IVW odds ratio [OR], 1.07; 95% CI, 1.04-1.10; P = .003) and stroke (IVW OR, 1.22; 95% CI, 1.05-1.41; P = .01) were found to have risk-increasing associations with psoriasis. Adjusting for stroke rendered the associations of genetically predicted CAD with psoriasis risk nonsignificant (and vice versa), suggesting that a shared effect underlying genetic risk for CAD and stroke associates with increased psoriasis risk. No risk-increasing associations were observed for genetic predictors of cardiovascular disease with other common IMIDs, including rheumatoid arthritis and inflammatory bowel disease. Findings of this mendelian randomization study indicate that genetic predictors of cardiovascular disease were associated with increased psoriasis risk with no reciprocal effect or association with other IMIDs. Elucidating mechanisms underpinning this association could lead to novel therapeutic approaches in both diseases.

A Multiplexed Quantitative Proteomics Approach to the Human Plasma Protein Signature

Despite the plasma proteome being able to provide a unique insight into the health and disease status of individuals, holding singular promise as a source of protein biomarkers that could be pivotal in the context of personalized medicine, only around 100 proteins covering a few human conditions have been approved as biomarkers by the US Food and Drug Administration (FDA) so far. Mass spectrometry (MS) currently has enormous potential for high-throughput analysis in clinical research; however, plasma proteomics remains challenging mainly due to the wide dynamic range of plasma protein abundances and the time-consuming procedures required. We applied a new MS-based multiplexed proteomics workflow to quantitate proteins, encompassing 67 FDA-approved biomarkers, in &gt;1300 human plasma samples from a clinical cohort. Our results indicate that this workflow is suitable for large-scale clinical studies, showing good accuracy and reproducibility (coefficient of variation (CV) &lt; 20 for 90% of the proteins). Furthermore, we identified plasma signature proteins (stable in time on an individual basis), stable proteins (exhibiting low biological variability and high temporal stability), and highly variable proteins (with low temporal stability) that can be used for personalized health monitoring and medicine.

The Use of Online Consultation Systems or Remote Consulting in England Characterized Through the Primary Care Health Records of 53 Million People in the OpenSAFELY Platform: Retrospective Cohort Study.

The National Health Service (NHS) Long Term Plan, published in 2019, committed to ensuring that every patient in England has the right to digital-first primary care by 2023-2024. The COVID-19 pandemic and infection prevention and control measures accelerated work by the NHS to enable and stimulate the use of online consultation (OC) systems across all practices for improved access to primary care. We aimed to explore general practice coding activity associated with the use of OC systems in terms of trends, COVID-19 effect, variation, and quality. With the approval of NHS England, the OpenSAFELY platform was used to query and analyze the in situ electronic health records of suppliers The Phoenix Partnership (TPP) and Egton Medical Information Systems, covering >53 million patients in >6400 practices, mainly in 2019-2020. Systematized Medical Nomenclature for Medicine-Clinical Terminology (SNOMED-CT) codes relevant to OC systems and written OCs were identified including eConsultation. Events were described by volumes and population rates, practice coverage, and trends before and after the COVID-19 pandemic. Variation was characterized among practices, by sociodemographics, and by clinical history of long-term conditions. Overall, 3,550,762 relevant coding events were found in practices using TPP, with the code eConsultation detected in 84.56% (2157/2551) of practices. Activity related to digital forms of interaction increased rapidly from March 2020, the onset of the pandemic; namely, in the second half of 2020, >9 monthly eConsultation coding events per 1000 registered population were registered compared to <1 a year prior. However, we found large variations among regions and practices: December 2020 saw the median practice have 0.9 coded instances per 1000 population compared to at least 36 for the highest decile of practices. On sociodemographics, the TPP cohort with OC instances, when compared (univariate analysis) to the cohort with general practitioner consultations, was more predominantly female (661,235/1,087,919, 60.78% vs 9,172,833/17,166,765, 53.43%), aged 18 to 40 years (349,162/1,080,589, 32.31% vs 4,295,711/17,000,942, 25.27%), White (730,389/1,087,919, 67.14% vs 10,887,858/17,166,765, 63.42%), and less deprived (167,889/1,068,887, 15.71% vs 3,376,403/16,867,074, 20.02%). Looking at the eConsultation code through multivariate analysis, it was more commonly recorded among patients with a history of asthma (adjusted odds ratio [aOR] 1.131, 95% CI 1.124-1.137), depression (aOR 1.144, 95% CI 1.138-1.151), or atrial fibrillation (aOR 1.119, 95% CI 1.099-1.139) when compared to other patients with general practitioner consultations, adjusted for long-term conditions, age, and gender. We successfully queried general practice coding activity relevant to the use of OC systems, showing increased adoption and key areas of variation during the pandemic at both sociodemographic and clinical levels. The work can be expanded to support monitoring of coding quality and underlying activity. This study suggests that large-scale impact evaluation studies can be implemented within the OpenSAFELY platform, namely looking at patient outcomes.

Knowledge and perception of medical students regarding remote-access thyroidectomy in Tabuk: the effects of extensive counseling—an interventional study

IntroductionRemote-access scarless thyroidectomies are relatively new surgical procedures, and their uptake for cosmetic concerns is rapidly evolving. However, demographic factors, previous thyroid surgery, and culture substantially influence the patient's choice. This is the first study to assess the extensive counseling effect on the patient's preference for remote-access thyroidectomies compared to conventional transcervical approaches. We aimed to assess the same among medical students at the University of Tabuk, Saudi Arabia.MethodsThis interventional study was conducted from December 2023 to March 2024. A structured questionnaire was used to gather information about demographic factors, knowledge, and perception of the medical students regarding remote-access thyroidectomies before and after a slide presentation.ResultsOf 394 medical students (age 22.65 ± 1.62 years), 53.8% were women. Initially, the majority of the students preferred remote-access thyroidectomy over the conventional approach (85.3% vs. 14.7%, respectively); however, a substantial change toward the cervical approach was evident after extensive counseling [odds ratio, 2.59; 95% confidence interval (CI), 1.58–4.27; and P-value &amp;lt;0.00]. Knowledge regarding remote-access thyroidectomy was poor (26.9%). The students were anxious regarding postoperative complications (3.22 ± 1.59/5), thyroid scar appearance (3.28 ± 1.36/5), and postoperative pain (3.17 ± 1.38/5). Concerns regarding body satisfaction and cost were lower.ConclusionMedical students at the University of Tabuk, Saudi Arabia, demonstrated low knowledge. The strong preference for remote-access thyroidectomy over transcervical thyroidectomy shifted substantially toward the conventional approach after counseling. The main factors were thyroid scar appearance, pain, and complications. Further larger-scale studies involving the general public and assessing the effect of extensive counseling on surgical choice are needed.