搜索结果：Dystonia (Lausanne, Switzerland)

Long-term efficacy of internal globus pallidus (GPi) deep-brain stimulation (DBS) in DYT1 dystonia and disease progression under DBS was studied. Twenty-six patients of this open-label study were divided into two groups: (A) with single bilateral GPi lead, (B) with a second bilateral GPi lead implanted owning to subsequent worsening of symptomatology. Dystonia was assessed with the Burke Scale. Appearance of new symptoms and distribution according to body region were recorded. In the whole cohort, significant decreases in motor and disability subscores (P < 0.0001) were observed at 1 year and maintained up to 10 years. Group B showed worsening of the symptoms. At 1 year, there were no significant differences between Groups A (without subsequent worsening) and B; at 5 years, a significant difference was found for motor and disability scores. Within Group B, four patients exhibited additional improvement after the second DBS surgery. In the 26 patients, significant difference (P = 0.001) was found between the number of body regions affected by dystonia preoperatively and over the whole follow-up. DBS efficacy in DYT1 dystonia can be maintained up to 10 years (two patients). New sy

Abnormal head movements (AHMs) manifest across a broad spectrum of neurological disorders; however, the absence of a multi-condition resource integrating kinematic measurements, clinical severity scores, and patient demographics constitutes a persistent barrier to the development of AI-driven diagnostic tools. To address this gap, this study introduces NeuroPose-AHM, a knowledge-based dataset of neurologically induced AHMs constructed through a multi-LLM extraction framework applied to 1,430 peer-reviewed publications. The dataset contains 2,756 patient-group-level records spanning 57 neurological conditions, derived from 846 AHM-relevant papers. Inter-LLM reliability analysis confirms robust extraction performance, with study-level classification achieving strong agreement (kappa = 0.822). To demonstrate the dataset's analytical utility, a four-task framework is applied to cervical dystonia (CD), the condition most directly defined by pathological head movement. First, Task 1 performs multi-label AHM type classification (F1 = 0.856). Task 2 constructs the Head-Neck Severity Index (HNSI), a unified metric that normalizes heterogeneous clinical rating scales. The clinical relevance

Cervical dystonia, a debilitating neurological disorder marked by involuntary muscle contractions and chronic pain, presents significant treatment challenges despite advances in botulinum toxin therapy. While botulinum toxin type B has emerged as one of the leading treatments, comparative efficacy across doses and the influence of demographic factors for personalized medicine remain understudied. This study aimed to: (1) compare the efficacy of different botulinum toxin type B doses using Bayesian methods, (2) evaluate demographic and clinical factors affecting treatment response, and (3) establish a probabilistic framework for personalized cervical dystonia management. We analyzed data from a multicenter randomized controlled trial involving 109 patients assigned to placebo, 5,000 units, or 10,000 units of botulinum toxin type B groups. The primary outcome was the Toronto Western Spasmodic Torticollis Rating Scale measured over 16 weeks. Bayesian hierarchical modeling assessed treatment effects while accounting for patient heterogeneity. Lower botulinum toxin type B doses (5,000 units) showed greater overall Toronto Western Spasmodic Torticollis Rating Scale score reductions (trea

Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal, and cervical involvement. Although KMT2B-related disease is emerging as one of the most common causes of early-onset genetic dystonia, much remains to be understood about the full spectrum of the disease. We describe a cohort of 53 patients with KMT2B mutations, with detailed delineation of their clinical phenotype and molecular genetic features. We report new disease presentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features, our study has identified co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies. Analysis of this study cohort (n = 53) in tandem with published cases (n = 80) revealed that patients with chromosomal deletions and protein-truncating variants had a signifi

Background: Mutations in KMT2B are a recognized cause of early-onset complex dystonia, with deep brain stimulation (DBS) of the internal globus pallidus (GPi-DBS) being an effective treatment. However, gait impairment, particularly freezing of gait (FOG), remains a significant challenge in DYT-KMT2B patients post-DBS. Objectives: To characterize the emergence of FOG in DYT-KMT2B patients treated with GPi-DBS and explore potential underlying mechanisms, including striatonigral degeneration. Methods: Five patients (four females) with KMT2B-related dystonia and protein-truncating variants (PTVs) were retrospectively analyzed. Clinical progression, response to GPi-DBS, and the presence of FOG were documented. Dopaminergic function was assessed using DaTscan (SPECT for ^123I-ioflupane) in four patients. Results: FOG developed in all patients, with onset ranging from 1 to 15.5 years post-DBS. DaTscan abnormalities, indicative of bilateral striatal dopaminergic denervation, were observed in four cases. Prior to DBS, all patients exhibited dystonia unresponsive to L-dopa, and post-DBS, FOG remained refractory to dopaminergic treatment in most cases. Despite initial improvements in gait pos

Skillful medium-range precipitation forecasting at kilometer scale remains challenging over complex terrain because precipitation arises from multiscale nonlinear processes that global models cannot explicitly resolve at affordable cost. Global AI weather models can produce skillful medium-range forecasts, but their native 0.25 degrees resolution limits direct use for local hazard applications. Statistical downscaling can help bridge this gap, yet existing approaches often struggle with state-dependent, and especially lead-time-dependent, biases in global forecasts. We introduce SwAIther-Precip, a lead-time-aware downscaling framework that converts coarse-resolution AIFS forecasts into probabilistic km-scale precipitation fields over Switzerland. First, a U-Net conditioned on lead time via feature-wise linear modulation deterministically corrects systematic biases at coarse resolution. This targeted correction enables a cheaper super-resolution stage conditioned only on corrected precipitation, allowing direct training on observations rather than on the full atmospheric state. A diffusion-based model then generates fine-scale spatial variability independently of lead time. Using AI

Cave climatology and its impact on contemporary biogeochemical cycles are still poorly documented. Ventilation in karst environment plays a fundamental role in these two fields and its understanding could bring elements to study them. However, only a few cavers have tried to understand and describe it, very often in a qualitative way or by theoretical approaches. The aim of this study is to test physical concepts with empirical data. For this purpose, a ventilation model has been built and compared with field temperature and air velocity measurements in the Milandre Cave Laboratory (Switzerland). The model explains about 95% of the measured airflow thus confirming the major role of temperature on the air dynamics. However, these first results also reveal that the measured winter air flow is lower than predicted by the model and that the air flow reversal occurs at a lower temperature than anticipated. Combined with a forced ventilation experiment these results underline the influence of the atmospheric composition (particularly the water vapor and concentration in CO$_2$ and O$_2$), waterflow rates and network geometry on the air flow. This work paves the way for a better quantific

Urban populations are increasingly exposed to extreme heat events such as heatwaves, which can be exacerbated in cities due to the urban heat island (UHI) effect. With the aim of developing adaptation strategies, recent years have seen a growing interest in deploying high-resolution measurement networks using low-cost devices (LCDs), which enable the evaluation of intra-urban temperature distribution and its impacts at an unprecedented spatial resolution. However, the reliability of LCD measurements has been called into question, especially regarding potential overheating due to inadequate radiation shielding. In this study, we develop a statistical method to correct temperature biases based on short-wave radiation using a generalized additive model (GAM) and then apply it to LCD measurements in the urban climate networks of the cities of Bern, Lausanne, Neuchatel and Zurich (Switzerland). To that end, we first calibrate the correction procedure to the LCD models used in each city using an intercomparison field study, in which the LCD models are collocated next to a professional automated weather station (AWS) operated by MeteoSwiss in the rural surroundings of Bern. Then, we evalu

Hyperkinetic movement disorders (HMDs) in children, including dystonia (abnormal twisting) and chorea (irregular, random movements), pose significant diagnostic challenges due to overlapping clinical features. The prevalence of dystonia ranges from 2 to 50 per million, and chorea from 5 to 10 per 100,000. These conditions are often diagnosed with delays averaging 4.75 to 7.83 years. Traditional diagnostic methods depend on clinical history and expert physical examinations, but specialized tests are ineffective due to the complex pathophysiology of these disorders. This study develops a neural network model to differentiate between dystonia and chorea from video recordings of paediatric patients performing motor tasks. The model integrates a Graph Convolutional Network (GCN) to capture spatial relationships and Long Short-Term Memory (LSTM) networks to account for temporal dynamics. Attention mechanisms were incorporated to improve model interpretability. The model was trained and validated on a dataset of 50 videos (31 chorea-predominant, 19 dystonia-predominant) collected under regulatory approval from Guy's and St Thomas' NHS Foundation Trust. The model achieved 85% accuracy, 81%

Residential electricity profiles are undergoing significant changes due to the increasing adoption of distributed renewable generation, heat pumps, and electric vehicles. Up-to-date real-world measurements are essential for characterizing these evolving consumption patterns and providing a timely empirical foundation for research. This paper presents a dataset of 15-minute smart meter measurements from 2,447 residential installations in Switzerland, covering the years 2023 and 2024. The dataset encompasses both active and reactive energy (withdrawal and injection) of diverse installation types, including apartments, single-family houses, heat pumps, and common building areas. A subset of the associated customers participated in a pilot project featuring novel grid tariffs and automated load control. The corresponding price profiles and metadata are also included. The dataset aims to support research focusing on distribution grid modeling, load forecasting, and the assessment of time-varying tariffs.

This study assesses the impact of tobacco billboard bans on smoking in Switzerland, exploiting their staggered adoption across regions, i.e., the cantons. Based on retrospective smoking histories from the Swiss Health Survey, a panel of individuals' annual smoking status is reconstructed, containing more than one million observations from 1993 to 2017. Estimation relies on staggered difference-in-differences as well as a complementary latent factor model, which relaxes the common trends assumption. The findings indicate that tobacco billboard bans lead to a reduction in smoking rates. Reductions of up to 0.9 percentage points correspond to an approximate 3% decline in the smoking rate. The effect is driven by women and individuals aged 25-44 and 65+. Overall, this evidence suggests that even partial tobacco advertising bans, such as billboard bans, can effectively reduce smoking rates and serve as a valuable policy tool within comprehensive tobacco prevention strategies.

Recent advances in neural weather forecasting have shown significant potential for accurate short-term forecasts. However, adapting such gridded approaches to smaller, topographically complex regions like Switzerland introduces computational challenges, especially when aiming for high spatial (1km) and temporal (10 min) resolution. This paper presents a Graph Neural Network (GNN)-based approach for high-resolution nowcasting in Switzerland using the Anemoi framework and observational inputs. The proposed architecture combines surface observations with selected past and future numerical weather prediction (NWP) states, enabling an observation-guided interpolation strategy that enhances short-term accuracy while preserving physical consistency. We evaluate two models, one trained using local nowcasting analyses and one trained without, on multiple surface variables and compare it against operational high-resolution NWP (ICON-CH1) and nowcasting (INCA) baselines. Results over the test period show that both GNNs consistently outperform ICON-CH1 when verified against INCA analyses across most variables and lead times. Relative to the INCA forecast system, scores against INCA analyses sh

Children's travel behavior plays a critical role in shaping long-term mobility habits and public health outcomes. Despite growing global interest, little is known about the factors influencing travel mode choice of children for school journeys in Switzerland. This study addresses this gap by applying a random forest classifier - a machine learning algorithm - to data from the Swiss Mobility and Transport Microcensus, in order to identify key predictors of children's travel mode choice for school journeys. Distance consistently emerges as the most important predictor across all models, for instance when distinguishing between active vs. non-active travel or car vs. non-car usage. The models show relatively high performance, with overall classification accuracy of 87.27% (active vs. non-active) and 78.97% (car vs. non-car), respectively. The study offers empirically grounded insights that can support school mobility policies and demonstrates the potential of machine learning in uncovering behavioral patterns in complex transport datasets.

Understanding urban form is crucial for sustainable urban planning and enhancing quality of life. This study presents a data-driven framework to systematically identify and compare urban typologies across geographically and culturally distinct cities. Using open-source geospatial data from OpenStreetMap, we extracted multidimensional features related to topography, multimodality, green spaces, and points of interest for the cities of Lausanne, Switzerland, and Philadelphia, USA. A grid-based approach was used to divide each city into Basic Spatial Units (BSU), and Gaussian Mixture Models (GMM) were applied to cluster BSUs based on their urban characteristics. The results reveal coherent and interpretable urban typologies within each city, with some cluster types emerging across both cities despite their differences in scale, density, and cultural context. Comparative analysis showed that adapting the grid size to each city's morphology improves the detection of shared typologies. Simplified clustering based solely on network degree centrality further demonstrated that meaningful structural patterns can be captured even with minimal feature sets. Our findings suggest the presence of

Local Electricity Communities (communautés électriques locales, CEL) will become operational in Switzerland in 2026, allowing prosumers, consumers, and storage operators within the same municipality and distribution system operator (DSO) area to exchange electricity over the public grid with reduced distribution tariffs. This report examines a rural Swiss case study to explore the techno-economic implications of CELs for both participants and the local DSO. The findings indicate that CELs can enhance the local use of renewable generation, particularly photovoltaics, and offer modest financial gains, with outcomes strongly shaped by community size, composition, and tariff design. Larger and more heterogeneous communities achieve better internal matching of supply and demand, though the overall incentive remains limited because the tariff reduction applies only to distribution charges. The study further shows that internal energy exchange is maximized when local PV generation covers roughly 1-2 times the community load. For DSOs, CELs reduce grid imports (27-46%), resulting in a substantial reduction in distribution tariff revenues (17-36%), necessitating regulatory adaptation. While

Long-term unemployment (LTU) is a challenge for both jobseekers and public employment services. Statistical profiling tools are increasingly used to predict LTU risk. Some profiling tools are opaque, black-box machine learning models, which raise issues of transparency and fairness. This paper investigates whether interpretable models could serve as an alternative, using administrative data from Switzerland. Traditional statistical, interpretable, and black-box models are compared in terms of predictive performance, interpretability, and fairness. It is shown that explainable boosting machines, a recent interpretable model, perform nearly as well as the best black-box models. It is also shown how model sparsity, feature smoothing, and fairness mitigation can enhance transparency and fairness with only minor losses in performance. These findings suggest that interpretable profiling provides an accountable and trustworthy alternative to black-box models without compromising performance.

The decarbonization goals worldwide drive the energy transition of power distribution grids, which operate under increasingly volatile conditions and closer to their technical limits. In this context, localized operational data with high temporal and spatial resolution is essential for their effective planning and regulation. Nevertheless, information on grid-connected distributed energy resources, such as electric vehicles, photovoltaic systems, and heat pumps, is often fragmented, inconsistent, and unavailable. This work introduces a comprehensive database of distributed energy resources and non-controllable loads allocated in Switzerland's medium- and low-voltage distribution grid models, covering over 2 million points of connection. Remarkably, this data specifies the flexibility capabilities of the controllable devices, with a set of projections aligned with national forecasts for 2030, 2040, and 2050. The database supports studies on flexibility provision of distributed energy resources, distribution grid resilience, and national energy policy, among other topics. Importantly, its modular structure allows users to extract national- and local-scale information across medium- a

Legal research depends on headnotes: concise summaries that help lawyers quickly identify relevant cases. Yet, many court decisions lack them due to the high cost of manual annotation. To address this gap, we introduce the Swiss Landmark Decisions Summarization (SLDS) dataset containing 20K rulings from the Swiss Federal Supreme Court, each with headnotes in German, French, and Italian. SLDS has the potential to significantly improve access to legal information and transform legal research in Switzerland. We fine-tune open models (Qwen2.5, Llama 3.2, Phi-3.5) and compare them to larger general-purpose and reasoning-tuned LLMs, including GPT-4o, Claude 3.5 Sonnet, and the open-source DeepSeek R1. Using an LLM-as-a-Judge framework, we find that fine-tuned models perform well in terms of lexical similarity, while larger models generate more legally accurate and coherent summaries. Interestingly, reasoning-focused models show no consistent benefit, suggesting that factual precision is more important than deep reasoning in this task. We release SLDS under a CC BY 4.0 license to support future research in cross-lingual legal summarization.

Although Large Language Models (LLMs) have shown promising performance in healthcare-related applications, their deployment in the medical domain poses unique challenges of ethical, regulatory, and technical nature. In this study, we employ a systematic participatory approach to investigate the needs and expectations regarding clinical applications of LLMs at Lausanne University Hospital, an academic medical center in Switzerland. Having identified potential LLM use-cases in collaboration with thirty stakeholders, including clinical staff across 11 departments as well nursing and patient representatives, we assess the current feasibility of these use-cases taking into account the regulatory frameworks, data protection regulation, bias, hallucinations, and deployment constraints. This study provides a framework for a participatory approach to identifying institutional needs with respect to introducing advanced technologies into healthcare practice, and a realistic analysis of the technology readiness level of LLMs for medical applications, highlighting the issues that would need to be overcome LLMs in healthcare to be ethical, and regulatory compliant.