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Objective To synthesize population-based studies of epilepsy prevalence published between 1980 and 2025, estimate pooled global prevalence, characterize regional differences, quantify temporal trends, and examine the influence of study characteristics and development indicators (Human Development Index [HDI] and Socio-demographic Index [SDI]). Methods We systematically searched PubMed, Embase, Web of Science, Scopus, and the Cochrane Library for observational studies published from January 1, 1980 to December 31, 2025. Random-effects meta-analysis was used to pool prevalence estimates. Pre-specified subgroup analyses were conducted by geographical region, survey period, study design, data source, sample size, and HDI/SDI strata. Methodological subgroup analyses and sensitivity analyses were further performed to assess the robustness of the pooled estimates. Temporal patterns were assessed using regression-based β trend analysis across study survey years and estimated annual percentage change (EAPC) derived from the Global Burden of Disease (GBD) database. Results We included 216 studies comprising 278,651,975 participants and 2,114,157 epilepsy cases. The pooled global prevalence was 7.57 per 1,000 population (95% confidence interval [CI], 6.78-8.45). Literature-based trend analysis suggested an increase in reported prevalence estimates from 1980 to 2025 (β = 0.206 per 1,000 population per year; P < 0.01). GBD-based analyses also showed an overall increase from 1990 to 2021 (EAPC = 0.102% per year), with significant increases during 1990-2009 but no significant change during 2010-2021. Prevalence differed significantly across geographical regions (P < 0.001), highest in Africa (10.67 per 1,000) and lowest in Asia (5.20 per 1,000). Prevalence was higher in low-HDI settings than in very high-HDI settings, but meta-regression did not support significant linear associations between prevalence and HDI or SDI (both P > 0.05). No significant sex difference was observed (P = 0.76). Sensitivity analyses supported the robustness of the main pooled estimate, and methodological subgroup analyses showed no major variation across prevalence definitions, case ascertainment methods, or diagnostic confirmation approaches. Conclusions Epilepsy prevalence remains high worldwide, with an overall increase in reported prevalence over the past four decades but a slower recent rise. Marked geographical disparities were observed, with higher reported prevalence in low-resource settings. Strengthening standardized epidemiological surveillance and improving access to diagnosis and treatment remain priorities, particularly in resource-limited regions.
Different body compositions may exert varying effects on epilepsy. We aimed to prospectively examine the associations between body composition and epilepsy risk while exploring the potential mediation of brain-related injuries. We constructed a large-scale cohort study within the UK Biobank (UKB), deriving 7 body composition patterns via principal component analysis that captured variation in muscle strength, bone density, lean mass (LM), and fat distribution. Multivariable Cox proportional hazards models were employed to assess associations between these patterns, individual body measurements, and epilepsy risk. We performed stratified analyses by polygenic risk score (PRS) and mediation analyses to evaluate the indirect contributions of brain injuries. Among the 475,960 participants, 3,026 epilepsy cases were identified over an average follow-up of 10.9 years. Patterns of "LM," "muscle strength," "bone density," and "leg-dominant fat distribution" were associated with reduced risk of epilepsy (hazard ratios [HRs]: 0.68-0.97), whereas "fat-to-LM," "central obesity," and "arm-dominant fat distribution" patterns were associated with increased incidence (HRs: 1.01-1.34). Similar trends were noted for corresponding individual body measurements. These associations were consistent across PRS strata. Falls, stroke, and neurodegenerative diseases mediated 17.9%, 27.2%, and 31.0% of effects for "muscle strength," "bone density," and "arm-dominant fat distribution," respectively. Body composition patterns involving muscle strength, bone density, and fat distribution show robust associations with epilepsy, partly mediated by neurological disorders. Optimizing body composition and preventing neurological insults may help reduce epilepsy risk in middle-aged and older adults.
Guillain-Barré syndrome (GBS) is an autoimmune disorder affecting the peripheral nervous system, with an annual worldwide incidence of 1-2 cases per 100,000 people. The incidence of GBS in Australia has not been studied in the past 38 years, and existing Australian literature presents a different severity profile compared to that observed in the Barwon South West Region (BSWR). The aim of this study was to describe and compare the prevalence of GBS in two proximate regional areas of Australia. A retrospective file audit was conducted for patients residing in the BSWR or Grampians Region (GR, a region adjacent to BSWR), admitted with GBS between 2009 and 2019. We identified 120 GBS patients during the study period: 91 from the BSWR and 29 from the GR. The age-adjusted incidence of GBS in the BSWR were 3.0 cases per 100,000 people per year (95% CI: 2.4-3.7), compared to 0.9 cases per 100,000 in the GR (95% CI: 0.6-1.3, p = 0). The risk of GBS was significantly higher for those living in the BSWR compared to the GR (IRR 3.26, 95% CI: 2.14-4.95, p < 0.001). There were no significant differences between the two groups in terms of age, gender, preceding illness, season of onset, disability severity, need for mechanical ventilation, medical treatments, or rehabilitation outcomes. This study provides updated data on the incidence and severity of GBS in two regional areas in the state of Victoria (Australia), revealing substantial regional variation within geographically proximate areas. These findings are crucial for resource planning and staff training. Further research is needed to explore the underlying causes of these regional differences.
We aimed to evaluate the global burden, spatial disparities, and risk factors of early-onset ischemic stroke (EOIS). Using data from the Global Burden of Disease Study 2021, we estimated incidence, mortality, and DALYs. Health inequality was measured with Slope Index of Inequality (SII) and Concentration Index (CII). Frontier analysis assessed national efficiency. Age-period-cohort and decomposition models analyzed trends and drivers. Between 1990 and 2021, global age-standardized incidence, mortality, and DALYs for EOIS declined, but absolute cases rose due to population growth and aging. Males and populations in Central Asia and Eastern Europe had the highest burden. East Asia saw rising age-standardized incidence. Health inequalities widened globally, with countries like Nauru and Kiribati showing the largest gaps. High-SDI countries such as Lithuania and the U.S. demonstrated unmet healthcare efficiency. Incidence and mortality increased with age, especially in men over 35. Population aging and growth were key drivers. Leading risk factors included high LDL and hypertension, while high BMI, high ambient temperature, and sugar-sweetened beverages emerged as growing risks. Low whole grain intake was a major dietary risk. The absolute burden of EOIS has increased due to demographic shifts. Significant socio-demographic and regional disparities persist, with men and certain regions facing disproportionately high risks. Metabolic risks remain central, while emerging factors are gaining importance.
Although family history is an established risk factor for stroke, the extent to which familial aggregation of stroke correlates with subclinical cerebrovascular burden on magnetic resonance imaging (MRI) remains unclear. We conducted a cross-sectional analysis of adults who underwent brain health checkups at a single center in Tokyo, Japan. Family history of ischemic stroke and intracerebral hemorrhage were assessed separately for parents, grandparents, siblings, and offspring, and participants were classified into five categories: no family history, both parents affected, father affected, mother affected, or other relatives affected. Outcomes were MRI-detected asymptomatic infarction and cerebral microbleeds, dichotomized as present (≥1 lesion) or absent. Logistic regression models estimated odds ratios (ORs) and 95% confidence intervals (CIs) in two models: Model 1 was adjusted for age and sex, and Model 2 was additionally adjusted for body mass index, current smoking, current alcohol consumption, and histories of hypertension, diabetes mellitus, and dyslipidemia. Among 60,310 stroke-free participants, asymptomatic infarction and cerebral microbleeds were each present in approximately 2%. In Model 2, compared with participants with no family history, those with a biparental history of ischemic stroke had higher odds of asymptomatic infarction (OR 1.65, 95% CI 1.01-2.69). Similarly, a biparental history of intracerebral hemorrhage was associated with cerebral microbleeds (OR 1.92, 95% CI 1.11-3.33). In this urban Japanese brain screening cohort, biparental stroke history may serve as a pragmatic marker of increased subclinical cerebrovascular burden and help identify individuals who could benefit from earlier preventive strategies.
Multiple sclerosis (MS) is a chronic immune-mediated inflammatory disease of the central nervous system, often accompanied by fatigue and reduced quality of life (QoL). Stressful life events (SLEs) may heighten stress in people with MS (pwMS), compounding the challenges of living with the condition. While mastery is acknowledged as a psychological resource for resilience, its protective role against SLEs remains unclear. We examined whether mastery modifies associations between SLEs and QoL and fatigue in pwMS. We analysed cross-sectional survey data from an international sample of 948 pwMS. Mastery (Pearlin mastery scale) was categorised into tertiles (low, moderate, high). QoL (MSQoL-54) was summarised as mental and physical composite scores. Clinically significant fatigue was defined as fatigue severity scale (FSS) > 5. SLEs exposure (Holmes-Rahe social readjustment rating scale) was assessed as total number and load (severity). Multivariable regression models assessed associations between SLEs and outcomes, and interaction terms tested effect modification by mastery. Higher number and load of SLEs were associated with clinically meaningful lower mental QoL (- 7 to - 8 points) among pwMS with low or moderate mastery, but not among pwMS with high mastery. Higher number and load of SLEs were also associated with 3- 5 fold higher odds of clinically significant fatigue, primarily among pwMS with low mastery. Higher mastery may buffer adverse associations between SLEs exposure and mental QoL and fatigue. Prospective studies are needed to confirm temporal relationships; however, interventions that support mastery may help mitigate stress-related impacts on wellbeing in MS.
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Clinical trial failure - when a study is withdrawn or terminated for reasons unrelated to safety or efficacy - wastes resources and exposes patients to unnecessary risks. We examined such failures in the field of multiple sclerosis (MS). We searched <ext-link ext-link-type="uri" xlink:href="http://ClinicalTrials.gov" xmlns:xlink="http://www.w3.org/1999/xlink">ClinicalTrials.gov</ext-link> for phase III and IV MS drug trials conducted in 2008-2024. Trials were classified as normally ended or failed based on recruitment status and reported reasons. When information was missing, we reviewed publications and contacted principal investigators (PIs). Kaplan-Meier method was used to assess time to trial end and multivariate logistic regression was used to identify factors associated with failure. The 282 clinical trials included in our analysis involved 62 experimental drugs, primarily disease-modifying therapies (n = 213 trials). Most studies aimed to evaluate drug efficacy (n = 197 trials). Overall, 74.8% of trials ended normally while 25.2% failed. On average, failed trials ended 10 months earlier than the rest of studies (trial actual duration: 17.8 vs. 28.2 months, p < 0.001). Main reasons for failure were low recruitment (28.2%), unspecified business decisions (26.8%), and logistical problems (12.7%). In 28.2% of occasions, it remained undisclosed. Trials evaluating drug safety (OR 0.35, 95% CI: 0.13-0.94) and those with ≥50 participating centres (OR 0.10, 95% CI: 0.02-0.38) seemed to have a lower risk of failure. Failure was not significantly associated with other factors such as study start date, PI location, or industry involvement. One out of four late-stage MS clinical trials fails. Increasing the number of study sites and improving recruitment strategies could enhance their success rates.
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Early-onset dementia (EOD) is an escalating health concern with profound consequences for individuals and health systems. Clarifying its burden is crucial for guiding resources, advancing diagnosis and interventions, and shaping health policies. The aim of the study was to assess the global EOD burden based on the Global Burden of Diseases (GBD) 2021 Study. We analyzed the incidence, prevalence, disability-adjusted life years (DALYs), and deaths from EOD of people aged 40-64 years, estimating age-standardized rates and average annual percentage change (AAPC) from 1990 to 2021. The Bayesian age-period-cohort (BAPC) model was utilized to project incidence from 2022 to 2030. From 1990 to 2021, EOD cases more than doubled globally, increasing in incidence from 0.64 to 1.38 million and in prevalence from 3.68 to 7.76 million. The global age-standardized incidence rate rose slightly from 61.22 to 64.74 per 100,000 (AAPC = 0.17%), with parallel increases in prevalence (AAPC = 0.09%), DALYs (AAPC = 0.08%), and deaths (AAPC = 0.07%). In 2021, East Asia and Tropical Latin America exhibited the highest incidence (>80/100,000), while high-income North America, East Asia, and Tropical Latin America exhibited the highest prevalence and DALY rates. The highest incidence and prevalence were in high-middle sociodemographic index (SDI) regions, while DALYs and deaths were greatest in middle SDI regions. Females generally had a higher EOD burden than males. Projections indicate minor fluctuations in age-standardized incidence rates to 2030. The global burden of EOD has increased due to population growth and aging, despite a relatively stable age-standardized incidence. Notable disparities were observed across sex, SDI levels, regions, and countries, which may be partially attributed to methodological heterogeneities. The escalating burden of EOD highlights the importance of globally raising public awareness, designing health policies, and providing better services to patients with EOD.
Idiopathic intracranial hypertension (IIH) is characterised by raised intracranial pressure in the absence of structural pathology and with normal cerebrospinal fluid composition. IIH is strongly associated with obesity and rising incidence has been reported in northern hemisphere countries. However, paediatric and Southern Hemisphere populations, including Australia, are under-represented in the existing literature. We conducted a multicentre retrospective study of adults (≥ 18 years) and children (< 18 years) diagnosed with definite IIH (Revised Friedman criteria 2013) between 2010 and 2023 at two Melbourne-based quaternary hospitals, capturing the majority of cases in Victoria, Australia. Demographic and clinical data were collected at diagnosis. Annual crude and age-standardised incidence rates per 100,000 population were calculated overall and by age group across predefined periods (2010-2014, 2015-2019, and 2020-2023). Temporal trends were assessed using negative-binomial regression. A total of 612 incident IIH cases were identified, including 504 adults and 108 children. Adults were predominantly female (94%), with mean age 28.0 ± 6.5 years and mean BMI 37.6 ± 8.4 kg/m2. Children showed lower female predominance (76%), younger mean age (12.4 ± 3.5 years), and lower mean BMI (31.9 ± 8.4 kg/m2). Headache was the most common presenting symptom in both groups (adults 84% and children 86%). Diplopia and sixth nerve palsy were more frequent in children. Age-standardised IIH incidence increased from 0.86/100,000 person-years in 2010-2014 to 6.53/100,000 in 2020-2023. In adults, incidence rose from 0.07/100,000 in 2010 to 2.30/100,000 in 2023 (32-fold); in children, from 0.33/100,000 to 1.01/100,000 (threefold). The highest incidence rates were seen among females aged 18-39 years, in whom incidence rose from 0.11/100,000 to 6.79/100,000 between 2010 and 2023. IIH incidence in Victoria increased substantially over 14 years, with the greatest burden among young adult females, mirroring international trends and highlighting the need for ongoing surveillance and mechanistic research.
Growing evidence suggests traumatic brain injury (TBI) may be a risk factor for subsequent brain cancer. We aimed to compare brain cancer mortality rates between persons with TBI and the general population. Retrospective cohort study of 20,211 individuals with TBI admitted for inpatient rehabilitation following acute hospitalization who enrolled in the TBI Model Systems (TBIMS) National Database (1987-2024). Brain cancer cases were identified by underlying or contributing cause of death on death certificate. Standardized mortality ratios (SMRs) compared to an age, sex, race, and calendar-year matched general population were calculated using the National Institute for Occupational Safety and Health LTASR R package. Secondary analyses explored brain cancer risk factors. Of the 4,297 decedents, 18 died of brain cancer, reflecting a higher rate than the general population (SMR=1.75; 95%CI:1.04-2.77). Significantly higher brain cancer mortality was observed among participants with gunshot wound (GSW) related TBI (SMR=14.29; 95%CI:2.95-41.75), mild TBI (mTBI; SMR=3.88; 95%CI:1.06-9.94), but not moderate-to-severe TBI (SMR=1.52; 95%CI:0.83-2.54). Individuals who sustained a TBI had a 1.75-fold higher likelihood of brain cancer death than the general population. Further analyses observed increased brain cancer mortality risk among those with GSW-related TBI and mTBI. Together, these results may inform targets for early prevention and support further investigation of the causal pathophysiology underlying TBI-related brain cancer mortality.
Poor dietary habits are major modifiable risk factors for stroke. With population aging and shifts in dietary patterns, the stroke burden attributable to dietary risks has changed in both China and Japan; however, long-term cross-country comparisons remain limited. This study assessed and compared trends in dietary risk-attributable stroke burden in China and Japan from 1990 to 2023. Data were obtained from the Global Burden of Disease 2023 study. Stroke deaths, age-standardized mortality rates (ASMRs), age-standardized disability-adjusted life-year rates (ASDRs), and corresponding 95% uncertainty intervals attributable to dietary risks were analyzed. Estimates were stratified by age, sex, stroke subtype-ischemic stroke (IS), intracerebral hemorrhage (ICH), and subarachnoid hemorrhage (SAH)-and nine dietary risk factors. Temporal trends were evaluated using estimated annual percentage change (EAPC) and Joinpoint regression to calculate annual percentage changes (APCs) and average annual percentage changes (AAPCs). From 1990 to 2023, dietary risk-attributable stroke burden declined in both countries but remained consistently higher in China across all demographic groups and stroke subtypes. ICH predominated in China, whereas IS accounted for the largest share in Japan. Burden increased with age and was higher in men. High sodium intake and low fruit intake were the leading contributors, followed by low whole grain and low fiber intake, while high red meat intake showed a protective association in both countries. ASMR attributable to dietary risks showed sustained declines (AAPC: -4.03% in China; -4.23% in Japan). All dietary risk-related burdens decreased except for sugar-sweetened beverage intake in China, which demonstrated an upward trend. Although declining, dietary risk-attributable stroke burden remains substantially higher in China than in Japan. Persistent high sodium intake and insufficient fruit and whole-grain consumption continue to drive the burden. Strengthening salt-reduction policies, improving dietary quality, and enhancing nutrition education are essential to further reduce diet-related stroke burden in both countries.
Frailty is dynamic in later life, yet prospective evidence linking frailty trajectories to incident stroke across diverse populations is limited. To investigate the association between frailty trajectories and incident stroke risk in adults aged 50 years and older using data from three nationally representative cohorts. We analyzed harmonized data from three longitudinal cohorts: the English Longitudinal Study of Ageing (ELSA), the Health and Retirement Study (HRS), and the China Health and Retirement Longitudinal Study (CHARLS). Frailty was assessed using a deficit-accumulation frailty index at each wave. Frailty trajectories were identified using latent class mixed models, which classified participants into three groups: Low, Moderate, and Increasing-to-high. Incident stroke was ascertained through self-reported physician diagnosis. Associations between frailty trajectory group membership and incident stroke were assessed using Cox proportional hazards models in the pooled dataset, stratified by cohort, and adjusted for demographic, socioeconomic, lifestyle, and laboratory covariates. Among 19,666 participants, the median follow-up was 7.5 years (IQR 7.0-8.0), and 1,131 (5.8%) incident strokes occurred. In the fully adjusted model, compared with the Low trajectory group, the Moderate trajectory group had a significantly higher risk of incident stroke (HR 2.05, 95% CI 1.73-2.43), as did the Increasing-to-high group (HR 3.51, 95% CI 2.99-4.12) (both P < 0.001). Cohort-specific analyses showed consistent directions of association. Frailty trajectories were strongly associated with incident stroke risk across three prospective cohorts. Longitudinal frailty monitoring may help identify individuals at elevated stroke risk and inform targeted prevention strategies.
Movement disorders (MDs), including Parkinson's disease (PD) and essential tremor, are growing causes of disability globally. Yet, data on MDs in low- and middle-income countries (LMICs), including Cabo Verde, remain scarce. This study aimed to estimate MD prevalence and incidence, identify at-risk groups, and evaluate access to care. A multi-site, country-level cross-sectional study was conducted from July to December 2024, including 110 adults with confirmed MDs. Data were obtained via clinical record reviews, interviews, and a structured questionnaire. Analyses included descriptive statistics, multivariable logistic regression, and thematic analysis of open-text responses. The age-standardized MD prevalence was 17 per 100,000 population (95% CI: 13-20), with higher rates in men [19 (14-25)] and in those over 60 [117 (89-145)]. PD accounted for 79% of cases. While 78% used pharmacotherapy, 70% faced moderate or severe difficulties accessing medication, and 35% of those who sought therapy reported facing barriers. Fifty-one percent experienced a significant life impact. Findings reveal significant access challenges and rising MD burden, underscoring the need for early diagnosis, decentralized services, and public health system strengthening in LMICs.
Stiff person syndrome is a rare and progressive neurological disorder, yet evidence on long term outcomes is limited. We examined the occurrence and mortality associated with stiff person syndrome in Denmark. We conducted a population based cohort study including all Danish citizens from 2001-2022. Individuals with a first time diagnosis of stiff person syndrome (N=30) were identified in the Danish National Patient Registry covering all Danish hospitals and matched 1:100 on sex and birth year with persons from the general population (N=3,000). Incidence, prevalence, cumulative mortality, and mortality rates were estimated, and Cox proportional hazards regression was used to compute hazard ratios (HRs) as an estimate of mortality rate ratios adjusted for sex, year of birth, and comorbidity with 95% confidence intervals (CIs). Thirty patients were diagnosed during the study period; 53.3% were male, and median age at diagnosis was 50 years. Incidence increased from 0.11 per 1,000,000 person years (2001-2008) to 0.43 (2017-2022). Prevalence rose from 1.32 per 1,000,000 in 2016 to 3.94 in 2022. The 10 year cumulative mortality in the stiff person syndrome cohort was 27.5% (95% CI: 13.8-50.1) (HR=4.1 [95% CI: 1.9-8.9). Stiff person syndrome is a rare disorder with increasing incidence and prevalence, and high mortality. .
Ethnic minority groups experience higher stroke risk than majority groups. While overall stroke incidence has declined, it is unclear whether recent prevention strategies have narrowed ethnic inequalities. We systematically reviewed last decade trends on ethnic inequalities in stroke incidence. We systematically reviewed observational studies (2015-2025) reporting first-ever stroke incidence by ethnicity in adults globally. We searched MEDLINE, Embase, and Scopus; assessed bias using ROBINS-E; reported narratively using PRISMA-2020 and conducted random-effects meta-analysis for Black versus White populations in North America. Twenty-six publications from 22 studies across high-income countries were included. Five studies had low risk of bias; six had some concerns, twelve were high or very high risk of bias. Black populations in the US experienced higher stroke incidence versus White populations (pooled incidence rate ratio=1.62; 95% CI 1.18-2.22), with persistent and, in some repeated-wave registries, widening inequalities in the US and UK. Aboriginal and Torres Strait Islander peoples in Australia and Māori in New Zealand showed two- to threefold excess incidence with widening gaps observed across successive survey waves. Asian and Middle Eastern populations and Hispanic/Latino populations showed heterogeneous patterns. Adjustment for socioeconomic status and cardiovascular risk factors only partially reduced inequalities. Ethnic inequalities in stroke incidence persist and and show widening in some long-running registry populations, particularly among Black, Aboriginal and Torres Strait Islander, and Māori populations. Cardiovascular risk factors only partly explain these inequalities, indicating that additional unmeasured drivers are also at play. While improved detection and treatment of hypertension and diabetes remains necessary, it is insufficient on its own; reducing inequalities will also require investigation of these upstream determinants and population-based prevention strategies that address structural barriers to equitable care. Evidence from low- and middle-income countries is urgently needed.
Longitudinally extensive transverse myelitis (LETM) is a severe inflammatory spinal cord disorder. It is commonly associated with neuromyelitis optica spectrum disorders and other autoimmune conditions like Sjögren syndrome, infectious and idiopathic aetiologies. Interleukin-6 (IL-6) is one of the key pro-inflammatory cytokines implicated in neuroinflammation and may serve as an important biomarker of disease activity. To evaluate the correlation between cerebrospinal fluid (CSF) IL-6 levels and disease activity in patients with LETM and to assess its prognostic value for short-term functional outcomes. In this prospective follow-up study conducted over 18 months, 41 patients with LETM and 21 controls with non-inflammatory neurological conditions were enrolled. Disease severity was assessed using the Expanded Disability Status Scale (EDSS) at admission and at 3-month follow-up. CSF IL-6 levels were analysed and correlated with clinical and radiological variables using Spearman correlation, receiver operating characteristic (ROC) analysis and multivariate regression. Median CSF IL-6 levels were significantly higher in LETM patients than controls (11.26 vs 5.02 pg/mL; p<0.001). CSF IL-6 showed a moderate positive correlation with EDSS at admission (ρ=0.34, p=0.027) and follow-up (ρ=0.51, p<0.001). ROC analysis demonstrated fair predictive accuracy for severe disease (AUC=0.70), with a cut-off of approximately 7 pg/mL. Multivariate analysis identified CSF IL-6 as an independent predictor of disease severity. CSF IL-6 correlates with disease activity and disability in LETM and may serve as a useful biomarker for prognostication and treatment planning.
Ischemic stroke (IS) exhibits pronounced geographic variation across China, with a consistently greater burden observed in colder regions. However, whether the strength of associations between major risk factors and IS differs between cold and non-cold regions remains unclear. We systematically searched observational studies in PubMed, Embase, Web of Science, CNKI, Wanfang, VIP, and CBM from inception through September 6, 2025. Data were analyzed using Stata 16.0. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Regional differences were evaluated using subgroup analysis. Ninety-six studies involving 800,741 participants were included. In the overall analysis, the largest pooled effect estimates were observed for atrial fibrillation (OR 4.48, 95% CI 2.41-8.36, I² = 62.1%), coronary heart disease (OR 3.20, 95% CI 2.29-4.46, I² = 86.2%), and hypertension (OR 3.05, 95% CI 2.55-3.64, I² = 92.9%), all of which were accompanied by moderate to substantial between-study heterogeneity. Subgroup analysis demonstrated significantly larger pooled associations in cold regions for hypertension (OR 4.31 vs. 2.69, I² = 94.8% vs. 92.0%), diabetes mellitus (OR 2.60 vs. 1.77, I² = 71.6% vs. 90.7%), triglycerides (TG; OR 3.41 vs. 1.48, I² = 96.7% vs. 92.4%), and low-density lipoprotein cholesterol (LDL-C; OR 1.91 vs. 1.43, I² = 0.0% vs. 67.2%) (all P < 0.05). In contrast, age was more strongly associated with IS in non-cold regions (OR 1.31 vs. 1.05, I² = 91.4% vs. 91.8%). Our analysis identified substantial geographic heterogeneity in the reported associations between selected cardiometabolic risk factors and IS in China. These exploratory, study-level findings generate hypotheses regarding contextual modification of risk factor associations, warranting confirmation in prospective, individual-level studies before informing region-specific prevention strategies.
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder characterized by the progressive degeneration of motor neurons and the subsequent loss of muscle function. With new therapeutic options for SMA, it is important to understand the epidemiology of the disease. As of January 2024, SMA has been included in newborn screening in Iceland. The aim of the study was to estimate the point prevalence and incidence rate of SMA in Iceland. This retrospective, population-based study collected data from the institutional records of the University Hospital of Iceland, pediatricians and privately practising neurologists. The incidence period was from 1997 to 2024, and the point-prevalence day was January 1st 2025. The incidence was calculated per 100,000 live births and the point prevalence per 100,000 residents. On the prevalence day, 23 individuals had SMA in Iceland, resulting in a point prevalence of 5.9/100,000. The prevalence of SMA in children under 18 years was 10.6/100,000. During the incidence period, 17 cases of SMA were born, yielding an incidence rate of 13.9/100,000 live births. Of those born during the incidence period, twelve were alive on the prevalence day, resulting in a fatality rate of 29.4%. Two cases of SMA have been diagnosed through newborn screening since it began. The incidence and point prevalence of SMA in Iceland are high compared to those reported in other countries.