Glucagon-like peptide-1 receptor agonists have been shown to have neuroprotective effects in metabolic diseases, but their application in neurodegenerative diseases (stroke and Parkinson's disease) has not been adequately studied. To assess the neuroprotective effects of GLP-1 receptor agonists in experimental stroke and Parkinson's disease models, in terms of mechanisms, properties of intervention, and major neurological outcomes. A systematic review was performed according to PRISMA. Four databases Cochrane CENTRAL, PubMed, Web of Science and Scopus were searched and 1643 records identified and 13 experimental animal studies were included. The SYRCLE tool was used to extract data and assess the risk of bias. 13 experimental studies published in 2013-2026 were included, which involved models of stroke and Parkinson disease. The MCAO models were the main models used in stroke studies, with a significant decrease in infarct volume, such as 15.4 % ± 1.3 % (liraglutide) and 40 % reduction with linagliptin. The score in neurological deficit was also found to improve (1.1 ± 0.14; P < 0.05) and the size of the infarct in treated groups had also reduced (36.5 % to 8.2 %; P = 0.001). The research on Parkinson disease showed that there was a notable improvement in motor functions (P < 0.001), preservation of dopaminergic neurons, and a decrease in the aggregation of α-synuclein. GLP-1 agonists decreased neuroinflammatory (TNF-α, IL-1b, IL-6), oxidative (ROS, 4-HNE), and apoptotic (increased Bcl-2, decreased Bax) markers. The treatment was between 24 h and 20 weeks, and the doses also differed among the agents. The overall quality of risk of bias assessment was moderate, with four studies having a high risk because of small sample size and inadequate reporting on the randomization and blinding. GLP-1 receptor agonists have powerful neuroprotective activity in preclinical models of stroke and Parkinson disease, which is multi-targeted. To ensure translational potential and to maximize therapeutic strategies, standardized studies and clinical trials are needed.
BackgroundChild neurology in low- and middle-income countries (LMICs) faces persistent disparities in workforce capacity, subspecialty training, and structured mentorship. To address these gaps, the Child Neurology Society International Affairs Committee (CNS-IAC) launched a 2-phase initiative to identify regional needs and develop SMART (Specific, Measurable, Achievable, Relevant, Time bound) goals and action plans.ObjectiveTo identify educational and clinical priorities of child neurologists practicing in LMICs and translate these findings into region-specific SMART goals and action plans.MethodsA mixed method study was conducted in 2 phases. Phase 1 (2024) used a de novo Qualtrics survey reviewed by the international child neurology experts. The survey assessed 12 clinical domains, preferred educational resources, and open-ended needs. Phase 2 (2025) consisted of structured regional working groups at the CNS Annual Meeting, where participants codeveloped SMART action plans through facilitated discussion and iterative refinement.ResultsA total of 48 clinicians from 18 LMICs contributed to phase 1 of the initiative. During phase 1, 29 clinicians completed the online survey and 19 participated in the in-person discussion session, with 2 individuals participating in both activities. Thirty-nine participants participated in the structured regional working groups and developed regional SMART goals. General child neurology and epilepsy were the most common areas of interest. Respondents highlighted limited access to standardized curricula, mentorship, and subspecialty training. SMART plans emphasized adaptable education, leadership development, and sustainable implementation.ConclusionsThe CNS-IAC model provides a practical, scalable framework for moving from needs assessment to regionally driven action to strengthen child neurology capacity in LMICs.
Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune inflammatory disease of the central nervous system (CNS) that requires specialized management. Although the role of subspecialty management has been established in various neurological conditions, the impact of neuroimmunology subspecialty (NIS) management on NMOSD patient outcomes remains inadequately explored. A retrospective analysis was conducted on 188 NMOSD patients, stratifying them into groups based on their management pathway: initial visit in NIS, initial visit in non-neuroimmunology subspecialty (NNIS), NNIS-to-NIS transfer, and last visit in either NIS or NNIS. Primary outcome measures included annualized relapse rate (ARR), Expanded Disability Status Scale (EDSS) scores. Patients initially presenting to NIS IV demonstrated a lower ARR (median: 0.39, IQR: 0.31-0.51, 95% confidence interval (CI): 0.33-0.45) compared to other groups at last follow-up. For transfer patients, ARR significantly decreased post-transfer (p < 0.001). Patients in NIS IV group had the lowest EDSS scores (median: 1.3, IQR: 1.0-2.0, 95% CI: 1.0-2.0) compared to other groups. Both initial presentation to NIS (OR:0.50, 95%CI:0.26-0.97, p = 0.039) and subsequent transfer to NIS management (OR:0.41, 95%CI:0.21-0.81, p = 0.010) were associated with lower EDSS scores. NIS management significantly improves outcomes in NMOSD patients, as evidenced by lower relapse rates, reduced disability scores, and higher utilization of advanced therapeutics.
This study was to explore the correlation between macroscopic and microscopic sleep architectures and early neurological improvement (ENI) in acute ischemic stroke by utilizing polysomnography (PSG) for sleep monitoring. Acute ischemic stroke patients were recruited to the Department of Neurology Inpatients of the Second Hospital affiliated with Soochow University from November 2015 and October 2021. PSG data were collected from all enrolled patients after admission, and sleep spindles and slow oscillations (SOs) were extracted and analyzed. Stroke patients were then divided into ENI and non-ENI groups based on the percentage difference between the National Institutes of Health Stroke Scale (NIHSS) score at admission and discharge, then clinical features, macro and micro sleep structure were compared between the two groups. Logistic regression analysis was used to explore the factors affecting the early improvement of neurological function in stroke patients. In multivariable analysis, specific sleep architecture features were independent predictors of ENI. Higher sleep efficiency (p = 0.002) and stronger SO-spindle coupling (p = 0.011) were independently associated with increased odds of ENI, while higher spindle frequency (p = 0.023) and higher SO frequency (p = 0.012) were independently associated with reduced odds. A higher level of non-high density lipoprotein cholesterol (p = 0.009) and thalamic (p = 0.006) and other cortical and subcortical infarctions (p = 0.035) were also independently associated with lower ENI odds. Macroscopical and microscopical sleep structures influence early recovery from stroke, and the precise coupling of SO and sleep spindle is independently associated with favorable neurological outcomes in stroke patients.
Long-duration spaceflight produces structural, functional, and hemodynamic brain changes driven by microgravity, radiation, elevated CO2, and isolation. Consequences include Spaceflight-Associated Neuro-Ocular Syndrome, vestibular imbalance, orthostatic intolerance, and cognitive disturbance. We consolidate current evidence, present a cerebrovascular physiologic framework, and discuss emerging countermeasures-including lower body negative pressure, artificial gravity, advanced neuromonitoring, and synthetic torpor-needed to safeguard neurological health on exploration-class missions.
Brain disorders characterized by progressive neurodegeneration, such as Alzheimer's disease (AD) and frontotemporal dementia (FTD), represent an increasing medical and societal challenge. While genome‑wide studies have uncovered numerous susceptibility loci, these efforts have largely focused on common variants and leave a substantial portion of genetic liability unresolved. Variants of low frequency, often associated with stronger biological effects, remain insufficiently characterized, particularly in heterogeneous populations. Genetically isolated populations offer an effective strategy to overcome these limitations. Finland, shaped by historical demographic events, harbors a distinctive spectrum of enriched rare variants that can facilitate gene discovery. The FinnGen initiative capitalizes on this setting by combining extensive genotyping with nationwide health registry data through a coordinated network of Finnish biobanks. With half a million participants analyzed, FinnGen supports highly powered analyses across a broad array of clinical outcomes and registry data. Recent comprehensive analyses have reported thousands of significant genotype-phenotype associations, including novel protein‑altering variants. Importantly, the FinnGen cohort structure favors older individuals and hospital‑derived samples, increasing representation of brain disorders, such as AD and idiopathic normal pressure hydrocephalus (iNPH), a disorder frequently accompanied by AD‑like pathological features. In this expert review, we summarize FinnGen‑based investigations relevant to neurodegenerative diseases and iNPH, highlighting insights into genetic susceptibility, disease overlap, and protective factors, and discuss how integration with recall studies as well as biomarker and clinical data accelerates translational applications in brain disorders.
Relapse is the primary driver of irreversible disability accumulation in neuromyelitis optica spectrum disorder (NMOSD). Although aquaporin-4 immunoglobulin G (AQP4-IgG) is central to disease diagnosis and pathogenesis, reliable tools for individualized relapse risk stratification remain limited. Given emerging evidence that blood-brain barrier (BBB) dysfunction and systemic immune activation play key and interconnected roles in NMOSD pathophysiology, we aimed to develop and internally validate an integrated prognostic model incorporating these dimensions to predict relapse risk. In this retrospective cohort study, 152 patients with NMOSD were enrolled and followed longitudinally for time to first relapse. Baseline peripheral inflammatory indices, including the neutrophil-to-lymphocyte ratio (NLR) and monocyte-to-lymphocyte ratio (MLR), as well as cerebrospinal fluid (CSF) parameters reflecting BBB integrity, were collected at study entry. Independent predictors of time to first relapse were identified using multivariable Cox proportional hazards regression. Three hierarchical prognostic models were constructed and compared: a clinical model, a clinical-CSF model, and an integrated clinical-CSF-blood inflammatory model. Model discrimination was evaluated using time-dependent receiver operating characteristic (ROC) analysis. Internal validation was performed using 1000 bootstrap resamples, and clinical utility was assessed by decision curve analysis (DCA). Patients who experienced relapse exhibited more pronounced BBB dysfunction and higher systemic inflammatory activation at baseline. Model discrimination improved with the sequential incorporation of CSF indices and inflammatory markers, with AUCs of 0.693 for the clinical model, 0.744 for the clinical-CSF model, and 0.850 for the integrated model. The final nomogram demonstrated good discrimination (bootstrap-corrected C-index 0.811), good calibration, and favorable clinical utility. AQP4-IgG seropositive patients had a higher relapse risk; importantly, the integrated model retained predictive performance in this subgroup, indicating added prognostic value beyond serological status. Exploratory analyses further suggested that higher AQP4-IgG titers were associated with increased relapse risk. An integrated nomogram incorporating peripheral inflammatory ratios and BBB-related CSF indices enables individualized relapse risk prediction in NMOSD. The model provides incremental prognostic value beyond AQP4-IgG serostatus and may support risk-adapted clinical management.
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Hyperammonaemia is a medical emergency which is mostly associated with liver dysfunction. However, in the absence of hepatic disease, rare inborn errors of metabolism such as urea cycle disorders (UCDs) must be considered. While UCDs typically present in the neonatal period, partial enzyme deficiencies may remain clinically silent until adulthood and present abruptly with life-threatening hyperammonaemia encephalopathy. Among these, late-onset carbamoyl phosphate synthetase I (CPS-I) deficiency is exceedingly rare and often underdiagnosed. We report a 32-year-old male who presented with acute onset altered sensorium progressing to coma over 12 h. The neurological decline was preceded by two to three episodes of vomiting on the day of admission and a recent history of a five-to-six-day febrile illness accompanied by gastrointestinal symptoms. On admission, the patient had a Glasgow Coma Scale score of 7/15 and required endotracheal intubation with ventilatory support. Routine laboratory investigations, including liver and renal function tests, were within normal limits. Neuroimaging studies (CT and MRI brain) showed no abnormalities. Plasma ammonia was markedly elevated at 397 µg/dL (Normal: <50 µg/dL), which rapidly escalated to 804 µg/dL within 24 h despite initial pharmacological intervention. Further metabolic evaluation revealed low plasma citrulline, elevated glutamine levels, and low urinary orotic acid, suggestive of a proximal urea cycle defect such as carbamoyl phosphate synthetase I (CPS-I) or N-acetylglutamate synthase (NAGS) deficiency. A significant family history of consanguinity and unexplained neonatal death, further supported a genetic etiology. The patient underwent urgent haemodialysis for ammonia clearance and was treated with protein restriction, dextrose-based intravenous fluids, and ammonia-lowering agents including sodium benzoate. His neurological status improved progressively, allowing successful extubation after three days. He was later discharged on oral L-citrulline supplementation and dietary protein restriction. At two-week follow-up, he was clinically stable with normalized plasma ammonia levels. This case highlights the importance of considering late-onset urea cycle disorders in adults presenting with unexplained hyperammonaemia encephalopathy. Early recognition and prompt aggressive management can be lifesaving and lead to complete neurological recovery.
Motor recovery after ischemic stroke involves complex functional reorganization, yet the underlying molecular and cellular mechanisms remain poorly understood. This study integrated longitudinal neuroimaging and brain-wide transcriptomic data to characterize the functional dynamics and their gene-expression correlates during motor recovery following subcortical ischemic stroke. We recruited 34 patients with acute right subcortical ischemic stroke and 32 age- and sex-matched healthy controls. All participants underwent baseline resting-state functional magnetic resonance imaging, with 22 patients completing a 3-month follow-up scan. Spontaneous neural activity was assessed using the amplitude of low-frequency fluctuations (ALFF), followed by seed-based whole-brain functional connectivity (FC) analysis from regions with longitudinal ALFF differences. We then applied partial least squares (PLS) regression to spatially correlate longitudinal ALFF changes with transcriptomic data from the Allen Human Brain Atlas, identifying a gene expression profile spatially associated with these ALFF changes. These genes were subsequently subjected to functional enrichment and cell-type specificity analyses. Compared with healthy controls, acute-stage stroke patients showed significantly decreased ALFF in the contralesional precentral gyrus. At 3-month follow-up, ALFF in this region significantly increased, accompanied by strengthened interhemispheric FC with its ipsilesional homologue. Critically, these longitudinal changes in ALFF and interhemispheric FC were significantly correlated with motor recovery. Based on PLS regression, we further identified a specific gene expression profile spatially correlated with the observed ALFF changes. This gene set was specifically enriched in excitatory and inhibitory neurons and was primarily involved in synaptic structure and signaling. By linking macroscale imaging dynamics with microscale molecular features, this study demonstrates that the contralesional precentral gyrus plays a supportive role in motor recovery during the subacute phase of subcortical ischemic stroke, with neuronal synaptic plasticity as a potential mechanism. Collectively, these findings inform stage-specific strategies to target interhemispheric inhibition.
To standardise the diagnostic criteria for cerebral palsy (CP) in China by resolving key ambiguities surrounding the timing of brain injury, the definition of non-progressiveness and the role of genetic aetiologies. A modified Delphi process was conducted in 2025 by the Rehabilitation Subspecialty Group of the Chinese Pediatric Society. Thirty-three national experts in paediatric neurology, rehabilitation, genetics and epidemiology participated. The process included literature review, iterative statement drafting and two rounds of anonymous voting. Consensus was defined as ≥80% agreement. Three diagnostic pillars were established: (1) a non-progressive injury to the developing brain occurring from the embryonic period through age 3; (2) non-progressive nature is defined by the absence of regression of previously acquired motor milestones through age 5 and (3) genetic factors are integral to CP pathogenesis and may justify classification as 'CP due to genetic variation' when specific criteria are met. Cerebral MRI, General Movements Assessment and Hammersmith Infant Neurological Examination were highlighted as key tools for early diagnosis. This updated expert consensus aligns national CP diagnostic criteria with current advances in neurodevelopmental and genomic science. It supports early, accurate diagnosis, guides genetic evaluation and promotes harmonised clinical practice across Chinese healthcare systems.
Exposure to high-energy charged particles like ¹⁶O ions poses risks to brain function during deep space travel. This study examined long-term neuroinflammatory and synaptic changes in rats 6 months after low-dose total-body ¹⁶O irradiation (1 cGy and 10 cGy), focusing on the frontal cortex, striatum, hippocampus, and thalamus. Using Western blotting, qPCR, and digital PCR, we assessed expression levels of neuroinflammatory (GFAP and IBA1) and synaptic (GAP43, PSD95, SYP, SPINO, and GPHN) markers. Correlation analyses to examine the relationship between the assessed molecular changes and behavioral performance in social odor recognition and psychomotor vigilance tasks were performed. In the hippocampus, 1 cGy exposure resulted in increased IBA1, GAP43, and PSD95, whereas 10 cGy exposure led to decreased GFAP and increased PSD95, SPINO, and GPHN. In the striatum, synaptic markers were elevated after both 1 cGy and 10 cGy exposure, though region-specific differences in gene expression levels were observed (qPCR/dPCR). In the frontal cortex, no changes across any of the targeted markers were detected, except for increased SYP in 1 cGy rats. In the thalamus, GFAP was reduced in 10 cGy rats, while GAP43 was increased in 1 cGy and PSD95 was increased in both 1 cGy and 10 cGy exposed animals. Correlation analyses revealed significant associations between molecular changes and behavior, including a negative correlation between hippocampal SYP protein levels and social memory performance in the 1 cGy group. Taken together, these results suggest dose- and region-specific brain responses to low-dose 16O ion exposure-a vital component of space radiation-culminating in an enhanced synaptic remodeling and possible neurological alterations. The data also highlight potential molecular mechanisms underlying region-based (i.e., striatum) cognitive vulnerability following low-dose particle exposure.
Pain exhibits significant circadian rhythmic characteristics, sharing a bidirectional regulatory relationship with the biological clock. Circadian rhythm disruption has been confirmed as an important risk factor for various chronic pain conditions, severely affecting patients' pain perception and treatment response. This narrative review was informed by searches of PubMed, Web of Science, Scopus, and Google Scholar (January 2000-March 2026), supplemented by backward citation tracking.We synthesize recent advancements in molecular biology and neuroscience to elucidate the interplay between circadian rhythms and pain. Furthermore, it evaluates the clinical potential of rhythm-based intervention strategies. Emerging evidence indicates that circadian rhythms dictate pain pathogenesis by modulating core clock gene expression, endocrine signaling, and neuro-immune functions. While the diurnal patterns of pain perception are well-documented, recent studies have begun to unravel the underlying molecular mechanisms and neural circuitry. Notably, circadian misalignment exacerbates pain sensitivity and diminishes the potency of conventional analgesic treatments. Circadian biology is pivotal to modern pain management. Leveraging rhythm-based strategies offers a novel paradigm for the individualized treatment of chronic pain. This review provides a theoretical framework and practical insights for future mechanistic research and precision clinical practice. For many people, pain changes during the day. It might feel worse in the morning, afternoon, or night. This happens because of how we sleep, how much we move, when we take medicine, and our body’s natural clock. We read many studies to learn how this inner clock controls pain and why taking medicine at the right time matters. We found that pain goes up and down because of our body clock, but also because of our habits, light, and bad sleep. The idea of treating pain at exact times is a good one, but doctors still need more proof. We do know that taking everyday pain pills or sleep medicine at certain times can really help. However, many other ideas have only been tested on animals so far, not people. In the future, scientists need to do better tests on humans. Using smart watches and simple health tests could help doctors find out who will feel better by taking their medicine at the perfect time.
Neuroendovascular venous interventions are increasingly performed using technologies originally developed for arterial procedures and indications. However, the major dural venous sinuses possess a unique intraluminal anatomy that is not present in arteries, raising concerns about device-anatomy interactions that may affect procedural performance. We used a perfused human cadaveric model with direct intraluminal angioscopic visualization to evaluate currently available endovascular devices within the dural venous sinuses and to characterize mechanisms of device-anatomy interactions associated with technical difficulty and failure. Six fresh human head-and-neck cadaveric specimens were perfused with 0.9% saline solution via bilateral internal jugular vein catheterization using a peristaltic pump. Direct intraluminal angioscopic visualization was achieved through transcranial access to the major dural venous sinuses, allowing real-time observation of target segments during device manipulation. Standard endovascular maneuvers were performed within the dural venous sinuses, including guidewire and microcatheter navigation, catheter advancement, venous stent deployment, stent retriever deployment, aspiration thrombectomy, and balloon angioplasty. Angioscopic and fluoroscopic recordings were independently reviewed by experienced neurointerventionists to identify and categorize technical challenges and failure mechanisms. Angioscopy revealed multiple device-intraluminal interactions that were not fully appreciated on fluoroscopy alone. Several representative technical challenge and failure scenarios were identified and grouped into four principal mechanisms: (1) catheterization of venous channels parallel to the main sinus lumen, resulting in catheter entrapment and incomplete expansion of venous stents and stent retrievers; (2) device deformation or incomplete expansion due to intraluminal bands, including stent deformation, malposition, and constrained balloon angioplasty; (3) arrested or impaired device advancement caused by intraluminal bands, frequently necessitating microcatheter-assisted support to overcome ledge effects; and (4) interaction with arachnoid granulations leading to occlusion of aspiration catheter inlets and impeded intraluminal navigation. The venous system differs fundamentally from arteries in luminal geometry and internal architecture. Our findings demonstrate that arterial-derived devices incompletely accommodate these differences, resulting in parallel channel navigation, constrained expansion and deformation of stents, and occlusion of suction catheters. These findings highlight the fact that veins are not arteries and underscore the need for venous-specific techniques and technologies.
Post-COVID condition (PCC) and Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) show marked clinical overlap, suggesting a shared post-infectious pathophysiology. This study aims to characterize the longitudinal change of autonomic function, small-fiber integrity, cognitive performance, and clinical symptoms in PCC and ME/CFS, and to determine whether trajectories differ between diagnostic groups. Thirty-eight participants (21 PCC, 17 ME/CFS) underwent two standardized evaluations separated by a median of 31 months. Assessments included comprehensive autonomic testing, small-fiber evaluation, and an extensive neuropsychological battery. ME/CFS showed longer disease duration than PCC at baseline (median 42 vs. 12 months), while the interval between evaluations was comparable (31 vs. 30 months). Baseline profiles were largely overlapping, although ME/CFS showed nominally higher QST warm detection thresholds (p = 0.034), greater autonomic symptom burden (p = 0.038), and lower hemodynamic scores (p = 0.019), none surviving FDR correction. Cross-domain analyses linked small-fiber symptoms with autonomic symptom burden (Rho = 0.65, pFDR = 0.002) and fatigue (Rho = 0.55, pFDR = 0.018), while fatigue was negatively associated with processing speed (Rho = - 0.57, pFDR = 0.004), attention (Rho = - 0.49, pFDR = 0.018), and executive function (Rho = - 0.44, pFDR = 0.047). Rank-transformed mixed-effects models identified FDR-corrected Time effects, with increases in CHEPs (pFDR < 0.001) and verbal memory (pFDR = 0.010), and decreases in processing speed (pFDR = 0.006) and QST cold thresholds (pFDR = 0.038). PCC and ME/CFS showed broadly overlapping multidomain profiles, with particularly similar profiles at follow-up. This suggests that, among individuals with persistent symptoms, PCC may increasingly resemble longer-standing ME/CFS across autonomic, small-fiber/sensory, and cognitive domains. These findings are consistent with overlapping post-infectious mechanisms, but do not establish identical disease trajectories or definitive disease convergence.
DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment-resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been reported, suggesting that the full phenotypic spectrum remains incompletely defined. We describe the case of a female patient who presents only with well-controlled epilepsy and mild dysmorphic features. Trio exome sequencing identified a de novo likely pathogenic variant in the GTPase domain of DNM1, supporting the diagnosis of DNM1 encephalopathy. Historically, disease-causing variants in the GTPase domain were thought to confer a more severe presentation. However, our patient demonstrates a more attenuated phenotype than previously reported cases, including those viewed as mild, which have consistently included some degree of developmental impairment. This supports an expanded and more variable phenotypic spectrum of DNM1 encephalopathy than previously recognized. This additionally complicates domain-based prognostication; though further cases will aid in elucidating genotype-phenotype correlation.
Normal pressure hydrocephalus (NPH) is a common cause of gait apraxia, cognitive impairment and urinary incontinence in older adults and can respond to cerebrospinal fluid (CSF) shunting. It can be challenging to select optimal candidates for CSF shunting given that communicating hydrocephalus is common in the normal ageing population as are the clinical symptoms of NPH. Large-volume lumbar puncture or CSF tap test can identify good candidates for CSF shunting. While neurologists are familiar with and have access to routine lumbar punctures, there are nuances about the CSF tap test for NPH to consider in clinical practice. In this article, we describe our practice for CSF tap tests with reference to the current evidence and common pitfalls while accepting the limitation of the test itself.
Anti-IgLON5 disease, a rare autoimmune neurological disorder, remains understudied in Eastern populations. This study aimed to characterize the clinical characteristics, treatment responses, and long-term outcomes of Chinese patients with anti-IgLON5 disease in a multicenter Chinese cohort. This retrospective multicenter study enrolled 24 patients with anti-IgLON5 disease confirmed by serum and/or cerebrospinal fluid antibody testing from 17 centers in China. Human leukocyte antigen (HLA) typing was performed on patient blood samples. Clinical characteristics, mRS/ICS outcomes, treatment response, relapse, and long-term outcomes were analyzed. Short-term response was defined as improvement in mRS from admission to discharge, and relapse was defined as recurrence or worsening of symptoms after initial clinical improvement. The mean age at onset was 59.6 years. Among 18 patients who received immunotherapy, 10/18 (55.6%) met the definition of achieving a short-term response. Responders included more women (6/10 vs. 2/8), fewer patients with bulbar symptoms (4/10 vs. 5/8), and more frequently had HLA-DRB1*10:01 or HLA-DQB1*05:01 (8/10 vs. 4/8) compared with non-responders. Men aged ≥ 65 years had poorer outcomes, whereas younger men and most women responded well. Long-term follow-up was performed on 16 patients (median 18 months, range 3-60 months), and eight withdrew from follow-up. Relapse occurred in 4/16 patients (25.0%). It typically occurred about 6-12 months after discharge, often following abrupt treatment withdrawal, and was effectively controlled with re-treatment. Kaplan-Meier analysis indicated that relapse risk was the highest within the first 6 months post-discharge. Early treatment (≤ 6 months) tended to be associated with more favorable outcomes. Overall, 10/14 immunotherapy-treated patients with long-term follow-up (71.4%) showed improvement, and 7/14 (50.0%) became asymptomatic. In this cohort, HLA-DQA1*01:05 and HLA-DRB1*10:01/HLA-DQB1*05:01 were over-represented among the typed patients, and the response rate to immunotherapy was numerically higher than that in the Western population (55.6% vs. 40%). The misdiagnosis rate was 33.3%. The median diagnostic delay was 2 months (IQR, 1-12 months; range, 2 days-6 years). As the largest cohort of anti-IgLON5 disease in China to date, this multicenter series demonstrated that Chinese and Western patients with anti-IgLON5 disease have both shared and distinct clinical characteristics. Chinese patients exhibited relatively favorable responses to early immunotherapy, relapse susceptibility requiring prolonged treatment, and potential HLA associations, offering new insight into disease management.
Artificial intelligence (AI) and machine learning (ML) are rapidly transforming the medical field. The aim of this review was to outline the current scientific state of AI and ML application in sports medicine, evaluate the level of clinical validation and readiness for implementation, and identify key priorities to guide future advancements and implementation into injury risk assessment, diagnosis, rehabilitation and clinical decision-making in sport medicine. A scoping review was conducted with a literature search performed on February 5, 2026, using the MEDLINE, EMBASE and Web of Science databases which targeted AI or ML application on individuals within a sports medicine context. Of 8,677 studies, 97 studies were included. Most research covered orthopaedics (70.1%) and neurology (18.6%), where AI was applied for injury prediction, diagnostic image analysis, and recovery estimation. Predictive and estimation models were the dominant application (57.7%). Reported discriminative performance was frequently high. However, the majority of studies relied on retrospective datasets and internal validation. Calibration reporting was uncommon, and prospective workflow integration was rare, with a single study attempting an interventional prevention strategy. Substantial heterogeneity in modelling approaches, data inputs, and outcomes definitions was observed. Although AI and ML applications in sports medicine frequently demonstrate strong within-sample performance, most remain in early-stage development. Currently, these tools should be viewed as supportive adjuncts rather than autonomous decision-making systems. AI, Predictive modeling, Diagnostic imaging, Rehabilitation, Deep learning, Return to sport.
The EuroQol Infant and Toddlers Populations (EQ-TIPS) instrument may support both 3-level and 5-level versions, mirroring the structure of the EuroQol Adult and Youth descriptive systems. This study compared the performance of the experimental version 2.0 EQ-TIPS-3L (3 L) with EQ-TIPS-5L (5L) in children 0-4 years living with a health condition. Caregivers of children were recruited from specialist outpatient clinics in South Africa. The feasibility of EQ-TIPS-5L and EQ-TIPS-3L was compared using the absolute reduction in the ceiling effect (111111). Discriminatory power was evaluated with Shannon's H' and J' index for absolute and relative informativity. The redistribution of dimension responses between the 5 L and 3L versions was evaluated for inconsistency, defined as a 5 L response that was two or more levels removed from a 3 L response. Convergent validity of EQ-TIPS dimensions was calculated with Kendall Tau B and Gamma correlations. Known-group severity was calculated for the EQ-TIPS-5 L and EQ-TIPS-3 L LSS scores using severity groupings based on PedsQL total score (≤ 74.2) and EQ VAS (≤ 80). Data from 176 children with a median age of 29 months, and more males (54%) were included. Most respondents were mothers (78%). Children were grouped by disease category: epilepsy (9%), neuromuscular disease (7%), chronic gastrointestinal disease (16%), renal disease (27%) and oncological or haematological diseases (41%). The ceiling effect (111111) decreased minimally by 2% points from the 3L to 5L. Absolute informativity (H') of dimensions improved by 0.096 on the 5L, with retention of the spread of responses for all dimensions. Convergent validity was similar, with strong correlations on paired 3L and 5L dimensions. The 3L and 5L were similarly able to significantly differentiate between known groups based on PedsQL and EQ VAS severity cut-offs. These results indicate that a 5L version of the EQ-TIPS does not influence the ceiling effect in the same way as the Adult and Youth descriptive system. The modest increase in informativity of the EQ-TIPS-5L suggests the potential advantages of expanded levels of reporting, but this requires testing in samples with more frequent reporting of severe health states.