The Mediterranean Diet (MD) is a dietary pattern associated with reduced chronic disease risk and increased longevity. This systematic review and meta-analysis aimed to evaluate the association between adherence to the MD and frailty and disability among older people. A comprehensive literature search was conducted in PubMed/MEDLINE, Cochrane Library, Embase, and Scopus (search date: February 28, 2024) without date restrictions. Observational and interventional studies examining the association between MD adherence (measured by any validated score) and frailty or disability, using any definition, and their complications were included. Study selection and data extraction were performed independently by pairs of reviewers using Covidence. Risk of bias was assessed using the Newcastle-Ottawa Scale. Random-effects meta-analysis was conducted, estimating pooled relative risks (RRs) per 1-point increment in MD adherence score. Heterogeneity was assessed using the I² statistic, and publication bias was evaluated by funnel plot. Certainty of evidence was graded using the NUTRIGRADE approach. Out of 1361 screened records, 19 observational studies were included. Higher MD adherence was associated with a lower incidence (9 cohort studies, n = 94 072 participants; OR = 0.95, 95% CI: 0.93-0.97; moderate certainty of evidence) and prevalence (6 cross-sectional studies, n = 12 277participants; OR = 0.94, 95% CI: 0.90-0.98; low certainty of evidence) of frailty. The association with disability was present only for prevalence (OR = 0.98; 95% CI: 0.97-0.98). Higher adherence to the MD is associated with a reduced presence of frailty and disability in older adults. These findings support public health strategies promoting the MD as a sustainable dietary model for healthy longevity.
To examine interpersonal violence as a public health issue affecting refugees, migrants and people with learning disabilities in the United Kingdom, and to identify system-level drivers and opportunities for prevention and response. Theory-informed conceptual narrative synthesis using two illustrative case studies. We synthesised evidence from public health, migration and disability literature and relevant policy/guidance, organised using an ecological and social determinants framework. We developed two case studies (forced migration and learning disability) to map how systems shape exposure, disclosure and access to protection. Across both populations, violence is structurally produced through immigration/asylum rules, institutional and social care environments, welfare and housing precarity, and service designs that restrict autonomy and undermine disclosure. Common gaps include under-recognition by services, limited staff training, and a lack of culturally and cognitively accessible pathways to safety, contributing to preventable health inequalities. Preventing and responding to interpersonal violence for these groups requires system-level, rights-based, trauma-informed and culturally/cognitively responsive approaches, including routine enquiry, accessible communication tools, clear referral pathways and sustained investment in specialist community-led services.
Minimal clinically important difference (MCID) thresholds are widely used to evaluate outcomes after surgery for cervical spondylotic myelopathy (CSM), but they may not fully reflect patient satisfaction. The authors hypothesized that discordance exists between MCID achievement in Neck Disability Index (NDI) score and satisfaction at long-term follow-up in a minority of patients after surgery for CSM. The 14-site Spine CORe™ study group performed a post hoc analysis of their prospectively collected data from the Quality Outcomes Database, which included 1085 patients who underwent surgery for CSM. Patients with complete baseline and 5-year NDI scores as well as 5-year satisfaction data were included. Satisfaction was assessed using the North American Spine Society (NASS) satisfaction index, and the MCID was defined for the NDI score. Baseline characteristics and patient-reported outcomes were compared between satisfied and dissatisfied patients within the cohort who met the MCID for NDI score. Multivariate logistic regression identified predictors of dissatisfaction despite the MCID. In total, 1085 patients underwent surgery for CSM. The 5-year follow-up rate was 82% (106 died within 5 years, and 782 had both 5-year satisfaction and NDI data). At 5 years postoperatively, 497 patients (63.6%) achieved the MCID in NDI score. Among MCID achievers, 463 (93%) were satisfied and 34 (7%) were not satisfied. On univariate analysis, of those who met the MCID, dissatisfied patients were more likely to be current smokers (32.4% vs 15.8%, p = 0.029) and less likely to participate in outside activities (58.8% vs 85.1%, p < 0.001). They also presented with greater baseline disability (NDI score: 47.9 ± 18.2 vs 41.1 ± 19.5, p = 0.021), lower quality of life (EQ-5D score: 0.50 ± 0.19 vs 0.58 ± 0.22, p = 0.029), and lower preoperative functional status (mJOA score: 11.2 ± 2.8 vs 12.3 ± 2.7, p = 0.025) compared with satisfied patients. On multivariate analysis, of those who met the MCID, smoking showed a trend toward higher odds of dissatisfaction (OR 2.12, p = 0.065), while participation in outside activities was protective (OR 0.28, p < 0.001). In this study, only 7% of patients were dissatisfied despite achieving the MCID for NDI score. Participation in outside activities was independently associated with greater satisfaction, whereas smoking showed a trend toward increased dissatisfaction despite meeting the MCID for NDI score. The MCID and satisfaction capture distinct yet complementary aspects of recovery and should be jointly considered during preoperative counseling and postoperative outcome assessment.
Disability assessment in dementia is important for care planning, but the full World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) is time-intensive and may limit clinical use. This study developed machine learning (ML)-based short forms of the WHODAS 2.0 and examined their reliability, concurrent validity, and responsiveness. Using data from 51,245 persons with dementia (training set: n = 31,952; validation set: n = 19,293), we developed two ML-based short forms, ML-WHODAS-16 and ML-WHODAS-10, with Extreme Gradient Boosting and bootstrap-based item selection under a lock-down training/validation workflow. Their performance was compared with the full WHODAS-32 and the conventional 12-item short form adapted to 11 items after excluding work-related items (Standard-12). Anchor-based longitudinal validity was also examined using deterioration in official Disability Severity Grade. Both ML short forms showed high internal consistency (α = 0.96 for ML-WHODAS-16 and 0.93 for ML-WHODAS-10) and excellent concurrent validity with the full WHODAS-32 (r = 0.98 for both). Compared with the Standard-12, they showed lower error, negligible Bland-Altman bias, and met predefined equivalence criteria, including ±0.5 points. Anchor-based Responsiveness was broadly comparable to the Disability Severity Grade (anchor) (r = 0.66-0.67; standardized response mean = 0.37-0.40). Anchor-based minimal clinically important differences were 9.26 for ML-WHODAS-16 and 9.95 for ML-WHODAS-10. The ML-WHODAS-16 and ML-WHODAS-10 substantially reduced assessment burden while maintaining scores that closely reflected those of the full WHODAS-32, particularly for group-level assessment and longitudinal monitoring. These findings support their use as practical, low-burden alternatives in dementia disability assessment. However, external validation, validation against harder clinical outcomes, formal non-inferiority testing, and clinically anchored longitudinal thresholds remain needed before individual-level interchangeability can be inferred.
This prospective cohort study aimed to evaluate the long-term outcomes of patients with spinal dural arteriovenous fistulas (SDAVFs) nearly 10 years after treatment and identify prognostic factors influencing recovery and progression. Seventy-six patients diagnosed with SDAVF from two centers in China were treated with microsurgery, endovascular therapy, or combined therapy based on angiographic findings. Baseline data collected included age, gender, disease duration, modified Aminoff-Logue Scale (mALS) scores, the presence of numbness and pain (modified Denis Scale [mDS] scores), fistula location, and treatment method. Follow-up evaluations were conducted at 3 months, 6 months, 1 year, 6 years, and nearly 10 years after treatment, in which mALS and mDS scores were recorded. The mean follow-up duration was 121.6 (SD 3.8) months. Fistulas were predominantly in the lower thoracic spine (T7-12, 48.7%), and 82.9% of the patients were male. Improvement was observed in 63.2% of the patients, whereas 55.3% had poor outcomes (mALS score ≥ 4) and 32.9% showed late clinical deterioration. Patient age > 55 years (OR 4.316, 95% CI 1.312-14.196; p = 0.016) and pretreatment disability (moderate: OR 10.160, 95% CI 1.932-53.433, p = 0.006; severe: OR 22.112, 95% CI 2.440-200.344, p = 0.006) were predictors of poor 10-year outcomes. Pretreatment disability (moderate: OR 8.432, 95% CI 1.008-70.512, p = 0.049; severe: OR 12.838, 95% CI 1.231-133.907, p = 0.033) were further associated with late clinical deterioration. Patients with SDAVFs show early functional improvement but progressive decline over time. Older age and moderate to severe pretreatment disability predicted poor outcomes, while moderate to severe pretreatment disability was associated with late clinical deterioration. These findings highlight the need for early intervention and long-term rehabilitation to mitigate functional decline.
Parkinson's disease (PD) causes progressive motor and non-motor disability. Although pharmacotherapy is first-line, responses diminish over time. Deep brain stimulation (DBS) effectively treats advanced PD, and recent data suggest benefits when applied earlier. To systematically review studies and meta-analyze randomized controlled trials comparing subthalamic DBS plus best medical therapy (BMT) with BMT alone in early PD. We conducted a systematic review and meta-analysis according to PRISMA, with a protocol registered in PROSPERO (CRD420251014105). MEDLINE, Embase, and the Cochrane Library (2002-2025) were searched for studies comparing early DBS with BMT in "early" PD. "Early" was variably defined, commonly disease duration 4-8 years or onset of motor complications without significant disability. We included RCTs, secondary analyses, observational studies, and unpublished trials; meta-analyses were restricted to randomized comparisons of early DBS plus BMT versus BMT alone. Studies included younger patients with ≤8 years' PD duration and early motor complications. Pooled RCT data showed a consistent quality-of-life benefit, while motor and medication outcomes directionally favored early STN-DBS but remained heterogeneous and imprecise. Studies suggest safety is broadly comparable to standard-indication DBS. Offering DBS before advanced disability-particularly in patients <60 years, <10 years from diagnosis, Hoehn-Yahr stage ≤3, early motor complications, and no dementia-may help delay loss of quality of life versus BMT alone. Given few trials and substantial heterogeneity, further large-scale randomized studies are needed to confirm safety, define optimal timing in early PD, and clarify which subgroups benefit most.
Pregnancy-related hormonal and biomechanical adaptations increase ligamentous laxity and joint mobility, which may persist into the postpartum period and contribute to pain and functional limitations. Although prenatal Pilates attenuates ligamentous laxity during pregnancy, its effects on early postpartum recovery remain unclear. This study aimed to investigate whether continuation of a structured prenatal Pilates program until childbirth facilitates ligamentous recovery and improves functional outcomes at six weeks postpartum. This dual-center, parallel-group randomized controlled trial included 42 primiparous women with singleton pregnancies randomized to a prenatal Pilates group or a control group receiving standard prenatal care. Assessments were conducted at baseline (14-16 weeks of gestation), late pregnancy (32 weeks of gestation), and six weeks postpartum. Outcome measures included anterior cruciate ligament (ACL) laxity assessed using a GNRB® arthrometer, generalized joint hypermobility (Beighton score), pelvic girdle pain-related disability (Pelvic Girdle Questionnaire), and physical activity level (daily step count). Data were analyzed using linear mixed-effects models, with mode of delivery included as a covariate. Linear mixed-effects model analyses revealed significant group × time interactions for ACL laxity at 134 N (p = 0.011) and 200 N (p = 0.008), as well as for Beighton scores (p = 0.012). Ligamentous laxity and generalized joint hypermobility remained stable during pregnancy and returned toward baseline at six weeks postpartum in the Pilates group, whereas pregnancy-related increases persisted in the control group. Significant group × time interactions were also observed for pelvic girdle pain-related disability (p = 0.022) and daily step count (p = 0.027). Pelvic girdle pain decreased more markedly in the Pilates group, while physical activity levels increased substantially compared to the control group. All findings remained statistically significant after adjustment for mode of delivery. Continuation of a structured prenatal Pilates program until childbirth is associated with improved ligamentous recovery, reduced generalized joint hypermobility, lower pelvic girdle pain-related disability, and higher physical activity levels in the early postpartum period, supporting its role as a feasible pre-rehabilitative strategy during pregnancy. ClinicalTrials.gov Identifier: NCT07344857 (https://clinicaltrials.gov/study/NCT07344857).Registration Date:01/08/2026.
Rare diseases affect small, dispersed populations and are often studied through multisite designs where equity-relevant demographic data are essential for inclusive recruitment and accurate interpretation. This study examined how sociodemographic variables are collected and reported in rare disease research and evaluated their alignment with the PROGRESS-Plus framework, which outlines Place of residence, Race/ethnicity/culture/language, Occupation, Gender/sex, Religion, Education, Socioeconomic status, social capital, and additional "Plus" factors such as age and disability status. A systematic review of peer-reviewed articles was conducted alongside an environmental scan of demographic instruments from governmental, health-system, academic, and rare disease organizations. Screening and extraction coded variables as reported, indirectly derivable, or not reported and compared them with established standards. Of 647 records identified, 37 met inclusion criteria. Reporting was dominated by age and sex, while most other equity-relevant variables including gender identity, sexual orientation, race/ethnicity, distinctions-based Indigenous identity, socioeconomic position, language, migration, disability/function, religion, occupation, and social capital, were inconsistently captured. Environmental scan instruments were more comprehensive, revealing a capture-to-reporting gap. Demographic reporting in rare disease research is heterogeneous and insufficient for equity-focused analyses. A concise, standards-aligned sociodemographic dataset is needed to improve transparency, comparability, and detection of inequities across rare disease populations.
Cornelia de Lange syndrome is a rare congenital disorder marked by considerable clinical variability, including intellectual disability, growth retardation, distinctive facial features, limb abnormalities, and multisystem involvement. The condition is primarily linked to mutations in genes encoding components of the cohesin complex that are essential for chromosomal stability and gene regulation. We report a case of a mild type of Cornelia de Lange syndrome caused by a de novo mutation in an Iranian family. We investigated a 19-year-old Iranian male individual presenting with developmental delay, borderline intellectual disability, dysmorphic facial features, and multisystem involvement. Whole-exome sequencing was performed to identify causative variants. A de novo heterozygous variant affecting the start codon of NIPBL (NM_133433.4:c.2T>A; NP_597677.2:p.Met1Lys) was identified. This variant was absent from population databases and predicted to disrupt normal translation initiation. Sanger sequencing and co-segregation analysis confirmed the genetic findings. In silico tools and population databases were utilized to assess variant pathogenicity. Clinically, the patient exhibited classical Cornelia de Lange syndrome features with relatively mild intellectual impairment compared with typical loss-of-function cases, consistent with the hypothesis of potential use of alternative start sites. This case shows a known NIPBL start-loss variant's correlation with a relatively mild clinical presentation and offers more genotype-phenotype evidence for it. This finding suggests a possible role for downstream translation initiation as a modifier of disease severity, although further functional validation is required. Comprehensive genetic analysis remains essential for accurate diagnosis, prognosis, and counseling in patients with Cornelia de Lange syndrome.
Shoulder dysfunction, characterized by pain and restricted range of motion, is a prevalent musculoskeletal condition. Thoracic manual therapy may influence shoulder symptoms through mechanical and neurophysiological pathways. However, its clinical effectiveness remains uncertain. to synthesize current evidence on the effects of thoracic manual therapy in individuals with shoulder dysfunction. Systematic review and meta-analysis with randomized controlled trails. Six databases were searched from inception to October 2025. Study selection, data extraction, and risk-of-bias assessment were performed independently by two reviewers. The mean difference (MD) and standardized mean difference (SMD) with the corresponding 95% confidence interval (CI) was calculated for pain and disability outcomes. Subgroup analyses were conducted according to shoulder pathology and type of thoracic manual therapy technique. The certainty of evidence was assessed using the Grading of Recommendations Assessment, Development and Evaluation system. Twelve studies involving 508 participants were included. Maitland mobilization showed greater improvement than control interventions for pain (MD, -2.02; 95% CI -2.95 to -1.10) and disability (SMD, -0.87; 95% CI -1.39 to -0.35) in individuals with subacromial impingement syndrome. High-velocity low-amplitude thrust techniques did not demonstrate significant effects in individuals with subacromial impingement syndrome and adhesive capsulitis, and evidence for the Mulligan technique remained insufficient due to limited trials. Thoracic manual therapy appears effective in reducing pain and disability, particularly with Maitland mobilization technique. Further high-quality randomized controlled trials are warranted to confirm these findings and optimize clinical protocols.
As a neurodegenerative disease, motor neuron disease (MND) is associated with a poor prognosis and imposes substantial economic and social burdens. Currently, hospital admissions for MND show rapid growth in China, yet assessments of the national disease burden of China remain insufficient. Therefore, we aims to systematically evaluate the disease burden of MND in China. Using the data from Global Burden of Diseases 2023 (GBD 2023), we analyzed the incidence, prevalence, mortality, years of life lost (YLL), years lived with disability (YLD), and disability-adjusted life-years (DALY) of MND in China from 1990 to 2023. Decomposition analysis was used to quantify factors influenced disease burden. And locally weighted regression was used to estimate the relationship between socio-demographic index (SDI) and age-standardized rate due to MND. In 2023, China reported 8,085 incidence cases [95% uncertainty interval (UI): 6,546-9,782], 35,838 (95% UI: 28,946 to 43,309) prevalent cases and 2659 (95% UI: 1674 to 4876) deaths due to MND. Crude rates of prevalence, mortality and YLD in 2023 significantly exceeded 1990 levels. During 1990 to 2023, the age-standardised prevalence (ASPR) and age-standardised YLD rate of MND in China increased by 13.91% and 13.90%, respectively. In contrast, the age-standardised incidence rate (ASIR), the age-standardised mortality rate (ASMR) age-standardised YLL rate and age-standardised DALY rate (ASDR) for MND had significantly decreased. The burden of MND increased progressively with age in both sexes, with males exhibiting a higher burden than females in 2023. In China, the total MND-related deaths increased by 66.10% from 1990 to 2023, driven by rises in age-specific motality rates (3.13%), population growth (21.33%), and population aging (41.64%). And a negative association was observed between SDI and the age-standardized rates of incidence, prevalence, mortality, YLL, YLD, and DALY due to MND in China. The increase in ASPR and age-standardised YLD rate, despite the decline in ASIR, ASMR and ASDR and age-standardised YLL rate, which might confirms the extended survival rate of MND patients in China, which can be attributed to demographic transitions, advancements in diagnostic techniques, and improved therapeutic interventions. It is very important to study the accurate epidemiological data on MND for clinical diagnosis and treatment and health policy.
Subarachnoid hemorrhage (SAH) is an acute neurological disorder with high mortality and disability, particularly among older adults. Using data from Global Burden of Disease (GBD) 2021 study, we comprehensively assessed the global, regional, and national burden of SAH in older populations from 1990 to 2021 and projected future trends to 2050. Data on SAH prevalence, incidence, mortality, and disability-adjusted life years (DALYs) were extracted for adults aged ≥ 60  years. Temporal trends were evaluated using estimated, annual, and average annual percentage changes (EAPC, APC, AAPC). Correlation, decomposition, frontier, predictive, and inequality, and risk factor analyses were applied to evaluate burden patterns. From 1990 to 2021, absolute prevalent and incident cases increased, whereas all age-standardized rates (ASRs) declined globally (EAPC < 0). The middle-socio-demographic index (SDI) region showed the greatest reduction, while Oceania had the highest age-standardized mortality (ASMR) and DALY (ASDR) rates. East Asia, particularly China, showed the steepest declines. SAH burden was concentrated in ages 60-75 group and higher in women; later cohorts exhibited lower risk. Population growth was the main driver of global increases in case and deaths, while epidemiological changes partially offset these increases and led to a net decline in DALYs. High systolic blood pressure remained the leading risk factor. Health inequalities widened, and frontier analysis revealed performance gaps among some high-SDI countries. Bayesian Age-Period-Cohort (BAPC) model projected rising absolute cases but continued declines in all ASRs by 2050. SAH burden among older adults shows regional, demographic, and developmental disparities. Despite progress, population aging demands sustained health-system strengthening to mitigate future burden.
Intimate partner violence (IPV) remains a significant public health concern in New York City (NYC), with psychological and physical abuse highly prevalent. Hispanic and Latine adults may face elevated IPV risk due to gender norms, immigration-related stressors, and barriers to accessing services. However, differences in IPV patterns by nativity remain insufficiently understood. Data from the 2020 NYC Community Health Survey, a population-based survey of non-institutionalized adults, were analyzed. The analytic sample included 2,229 Hispanic and Latine respondents. Weighted descriptive statistics and stratified logistic regression models were used to estimate lifetime physical and psychological IPV prevalence and associated factors by nativity. U.S.-born Hispanic and Latine (USBH/L) adults reported higher prevalence of IPV than foreign-born Hispanic and Latine (FBH/L) respondents. However, nativity was not independently associated with IPV after adjustment. Risk factors varied across nativity groups. Among FBH/L adults, female gender and marital disruption were the strongest and most consistent predictors of IPV. Among USBH/L adults, binge drinking, disability, and mental health treatment showed stronger and more consistent associations. Having ≥2 sexual partners was associated with higher odds of IPV across models. Older age (≥65 years) was consistently associated with lower IPV odds. IPV remains prevalent among Hispanic and Latine adults in NYC, with distinct patterns of associated risk factors by nativity. Prevention strategies should be culturally and linguistically responsive and address gender norms, substance use, and structural vulnerabilities, including disability and relationship instability. These findings highlight the importance of continued IPV surveillance to inform equitable, population-level interventions.
Chronic low back pain (CLBP) is a leading cause of disability worldwide. Physiotherapy is a common treatment, but its effect on physical functioning is generally modest, particularly for patients with severe complaints (i.e., high levels of disability and pain). Virtual Reality (VR) may complement physiotherapy, yet evidence for its effectiveness remains limited. The aim of this study was to assess the effectiveness and feasibility of a VR intervention integrated within physiotherapy for people with severe CLBP. A cluster-RCT across Dutch physiotherapy practices was conducted. Patients in the control group received 12 weeks of usual care following physiotherapy guidelines. Patients in the intervention group received similar usual care, enhanced with integrated, home-based VR consisting of pain education, exercise therapy, and relaxation modules. The primary outcome was physical functioning at three months. Secondary outcomes included feasibility, pain intensity, and catastrophizing. Analyses were conducted using linear mixed-effect models accounting for clustering by physiotherapy practice. Twenty-five patients participated in the intervention group and seven in the VARIETY control group, instead of the planned sample size of 120 participants. Due to poor recruitment (n = 7), we supplemented the VARIETY control group with 18 historical controls from two comparable trials (total control n = 25), effectiveness analyses are therefore exploratory. Between-group differences were neither statistically significant nor clinically relevant for all outcome measures, compared to the VARIETY control group (e.g., ODI mean difference at three months: -4.80, 95%CI: -17.78;8.18), or the total control group (-8.80, 95%CI: -20.17;2.57). The intervention group showed greater improvements from baseline in physical functioning (42%), compared to the VARIETY control group (26%). The intervention was considered feasible and safe to use in practice. This study found limited support for the use of VR as an adjunct to physiotherapy for people with severe CLBP. Given the use of external control data and the limited sample size, the effectiveness results should be interpreted cautiously. Further well-powered trials should reconsider study procedures to optimize patient recruitment and corroborate VR's clinical effectiveness in physiotherapy. The study was registered with ClinicalTrials.gov on 2022-12-02 (reference number: NCT05701891).
Rheumatoid arthritis (RA) is a leading cause of disability globally. Although iron accumulation in arthritic lesions has been observed in patients with RA, its specific contribution to disability outcomes remains unclear. Here we demonstrate a comprehensive multiomics approach to elucidate the impact and underlying mechanisms of iron overload in RA. First, clinical radiology in an RA cohort reveals a positive correlation between elevated ferrous iron levels in synovial fluid and joint damage extent. Iron chelator DFO administration significantly alleviates bone destruction in the K/BxN serum-transfer induced arthritis mice model. In terms of cellular function, we identify the aggressive migration and invasion of fibroblast-like synoviocytes (FLSs) induced by excess iron utilizing a humanized synovitis model. Mechanistically, the multiomics integration of transcriptomics and metabolomics indicates the enriched lipid synthesis pathway in the FLS response to iron exposure. The lipid transcription factor SREBP1 is particularly highly expressed in RA-FLSs, and its genetic ablation or pharmacological inhibition markedly mitigates the pathogenic effects of iron overload both in vitro and in vivo. At the molecular level, iron regulatory protein IRP1 enhances the translation of SREBP1 adapter protein SCAP by disengaging from its mRNA 5' untranslated region upon iron stimulation. This process facilitates SREBP1 cleavage and activation, driving the upregulation of genes involved in fatty acid and cholesterol biosynthesis. Our findings elucidate the IRP1-SCAP axis as a critical modulator of lipid metabolic reprogramming in aggressive FLSs, underscoring its potential as a therapeutic target for RA by modulating the 'iron-lipid' crosstalk.
The aim of this study was to assess whether the severity of systemic illness affects outcomes following surgery for grade 2 spondylolisthesis by using prospectively collected data from the Quality Outcomes Database (QOD) spondylolisthesis database. This retrospective analysis of patients who underwent surgery for grade 2 degenerative lumbar spondylolisthesis used a prospective national longitudinal registry of data collected from 14 sites. The American Society of Anesthesiologists (ASA) physical classification system was used to assess systemic illness and compare patients categorized as ASA classes I and II with patients categorized as ASA classes III and IV. Baseline demographics, comorbidities, and clinical variables were collected for comparison. Primary outcomes were Oswestry Disability Index (ODI) and EQ-5D scores 3, 12, 24, and 60 months after surgery, and multiple linear regression was used to determine whether ASA class significantly predicted postoperative change in patient-reported outcome measures. Of the 328 patients in the grade 2 spondylolisthesis QOD cohort, 172 (52.4%) were categized as having a low ASA class (ASA class I or II) and 156 (47.6%) with a high ASA class (ASA class III or IV). There was a > 80% follow-up rate 5 years after surgery. Compared with patients in the low ASA class group, those in the high ASA class group were older (mean age 64.1 [SD 10.1] years vs 57.3 [SD 13.2] years, p < 0.001), had a higher BMI (mean 31.9 [SD 7.2] vs 28.8 [SD 5.9], p < 0.001), and had higher rates of comorbidities (diabetes, coronary artery disease, chronic obstructive pulmonary disease, and chronic kidney disease). The hospital length of stay and readmission rate did not differ significantly between the two groups. At baseline, ODI scores were significantly higher in the high ASA class group (mean 23.8 [SD 7.2] vs 21.5 [SD 8.3], p = 0.01), but there was not a significant difference in the ODI score 3, 12, 24, and 60 months after surgery. There were no significant differences in the mean EQ-5D score between the two groups at all time points. Multiple linear regression showed that ASA class was not a significant predictor of change in the ODI or EQ-5D score from baseline to 60 months postoperatively. Patients with higher systemic illness, categorized as ASA classes III or IV, had a higher baseline ODI score compared with those with low ASA classes (I or II), but had similar ODI scores 3, 12, 24, and 60 months postoperatively. There were no significant differences in the length of stay or readmission rate between groups. These findings suggest that patients with high ASA classes benefit from surgery for grade 2 spondylolisthesis and experience significant improvements in disability status.
Lissencephaly type 10 (LIS10, OMIM#618873) is a rare neurodevelopmental disorder characterized by posterior-predominant pachygyria/agyria or subcortical band heterotopia on brain imaging. Clinically, affected individuals exhibit a range of developmental delays, including intellectual disability, language impairment, and frequently intractable epilepsy. LIS10 results from pathogenic variants in the centrosomal gene CEP85L. Peripheral blood mononuclear cells obtained from a LIS10 patient were reprogrammed into induced pluripotent stem cells (iPSC; line KCGMHi001-A) using Sendai virus. This iPSC model serves as a valuable resource for future mechanistic studies and therapeutic development for LIS10.
Ataxia disorders have complex symptomology and few treatment options. Limited information is available on symptoms and quality of life with ataxia from the perspective of patients and caregivers. We aimed to assess whether trends in symptoms and quality of life varied by ataxia type and disease stage. We conducted an anonymous, international survey of 680 National Ataxia Foundation Members, including 587 people with ataxia and 93 caregivers. Data was analyzed for the whole group, by ataxia type, and by Functional Disability Stage (FDS). Respondents self-reported the first symptoms experienced, symptoms currently experienced, and the one symptom that currently has the greatest impact on their life. Impaired balance (51%, n = 343) and coordination (24%, n = 161) were the most reported first symptoms noticed by respondents across ataxia types. Impaired balance (92%, n = 627), impaired coordination (80%, n = 546), and fatigue (70%, n = 479) were the most prevalent symptoms across ataxia types and FDS. Impaired balance (65%, n = 443) was the most reported symptom as having the greatest impact on respondents' day-to-day life. While there were commonalities between FDS and ataxia types, some subtype differences emerged amongst self-reported first symptom, symptom prevalence, and symptoms impacting daily living. This study highlights trends in symptomology across ataxia types and disease stages from the perspective of people with ataxia and caregivers. While similarities exist across ataxia types, variation in which symptoms most impact quality of life across disease stages underscores the importance of selecting patient-relevant clinical trial outcome measures and endpoints. These findings can further guide clinicians in prioritizing symptom management and treatment planning, while supporting more meaningful, patient-centered discussions about disease impact.
Autism Spectrum Disorder (ASD) significantly impacts patients and their families. This study analyzes the global burden and trends of ASD in children (aged 0-14) from 1990 to 2021 using the Global Burden of Disease Study 2021 (GBD 2021) data, providing epidemiological insights for prevention and early intervention. We utilized GBD 2021 data and conducted various analyses including descriptive analysis, correlation analysis, age-period-cohort analysis, decomposition analysis, and projection analysis to evaluate the burden and trends of ASD in children. Statistical analyses and visualizations were performed using R 4.3.3. From 1990 to 2021, the age-standardized incidence rate (ASIR) of ASD initially increased, then declined, while the age-standardized prevalence rate (ASPR) and disability-adjusted life years (DALYs) showed an upward trend. Projections suggest further increases in ASPR and DALYs through 2030. In 2021, the global ASIR of ASD in children was 61.88 (95 % UI: 52.20, 72.92) per 100,000, with ASPR at 857.92 (95 % UI: 723.24, 1009.34) and DALYs at 165.09 (95 % UI: 111.88, 232.19). The onset of ASD is predominantly before the age of 5, with a higher burden in males. Severe burdens are more prominent in higher Socio-Demographic Index (SDI) regions, although low-SDI regions also exhibit notable burdens. Population growth is a key factor in increasing ASD burden, while aging has a mitigating effect. Although the ASIR of ASD has declined, ASPR and DALYs continue to rise and are expected to increase further, requiring enhanced efforts to reduce ASD's global burden.
Blindness and low vision in children remain significant public health concerns, particularly in low- and middle-income countries. These conditions are often underdiagnosed and undertreated due to limited access to specialized services, spectacles, and assistive devices, posing critical challenges to health equity. The Childhood Blindness and Low Vision Programme (CBLVP) in Northern Malawi, Africa aimed to address these gaps through capacity building, advocacy, improved access to regular eye health and low vision assessments, and the provision of spectacles and low vision devices. This article reports on the activities and outcomes of the CBLVP, implemented between 2022 and 2024. Activities included establishing clinical services at a government referral eye hospital, conducting outreach screenings and assessments, and building capacity through training and mentorship. Advocacy efforts engaged stakeholders-including government officers, parents, teachers, and disability organizations, to promote awareness, increase service uptake, and provide basic skills for supporting children's use of vision at school and home. Programme monitoring drew on routine service records and feedback from stakeholders and beneficiaries, capturing key achievements and identifying challenges to inform future service improvement. A total of 2,054 children were served; among these, 370 (18%) received glasses, 70 (3.4%) received low vision services, and 96 (4.7%) underwent cataract surgery. Spectacles and low vision devices were reported to improve children's visual status, enabling better educational and vocational performance. Awareness campaigns, including radio and social events, increased visibility and service uptake, particularly among persons with albinism. Stakeholders highlighted that the absence of a regular screening and admission policy led to some children with low vision being misclassified and placed in Braille-based programs, despite being capable of learning through print. The programme demonstrated that children's vision services can be comprehensively integrated through school screening and hospital-based services. To improve service delivery, future initiatives should emphasize early identification and ensure that all children with suspected visual impairment are screened before placement in mainstream or special education settings.