Article
Cell Biology
Tommaso Proietti, Ciaran O. ' Neill, Lucas Gerez, Tazzy Cole, Sarah Mendelowitz, Kristin Nuckols, Cameron Hohimer, David Lin, Sabrina Paganoni, Conor Walsh
Summary: Despite uncertainties in the portability and everyday use of upper limb robotic wearables for people with physical impairments, researchers have developed a lightweight, fully portable, textile-based, soft inflatable wearable robot for shoulder elevation assistance. The device has shown immediate improvement in the active range of motion, compensation for physical deterioration, and restoration of basic activities of daily living in individuals with ALS. It also reduces shoulder muscle activity and perceived muscular exertion while increasing endurance. These results represent progress towards the everyday use of assistive, soft, robotic wearables for the upper limbs.
SCIENCE TRANSLATIONAL MEDICINE
(2023)
Article
Clinical Neurology
Sebastian Michels, Paul Widmann, Daniel Rapp, Frank Willkomm, Albert C. Ludolph, Johannes Dorst
Summary: This study analyzed the relationship between hypercapnia-associated symptoms, blood gas parameters, and pulmonary function tests in patients with amyotrophic lateral sclerosis. The results showed that dyspnea at rest and daytime fatigue were the most accurate symptoms for predicting hypercapnia. Pulmonary function tests had higher sensitivity but lacked specificity. Evaluation of hypercapnia-associated symptoms can help predict respiratory insufficiency and should be used in conjunction with pulmonary function tests.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Neurosciences
Qing-Qing Duan, Zheng Jiang, Wei-Ming Su, Xiao-Jing Gu, Han Wang, Yang-Fan Cheng, Bei Cao, Xia Gao, Yi Wang, Yong-Ping Chen
Summary: The study aimed to summarize the relationship between ALS and its genetic and non-genetic risk factors. Results showed that exposure to heavy metals, pesticides, solvents, previous head trauma, military service, stroke, magnetic field, and hypertension were significant risk factors for ALS, while the use of antidiabetic drugs, high BMI, living in urban areas, diabetes, and kidney disease decreased the risk. In addition, several ALS-related gene mutations were evaluated and ranked in terms of frequency. Therefore, effective intervention for risk exposure and modification of lifestyle could potentially prevent ALS, and accurate detection of genetic mutations is crucial for ALS identification.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Medicine, General & Internal
Chun Yu Li, Tian Mi Yang, Ru Wei Ou, Qian Qian Wei, Hui Fang Shang
Summary: The study found a significant positive genetic correlation between ALS and celiac disease, multiple sclerosis, rheumatoid arthritis, and systemic lupus erythematosus, as well as a significant negative genetic correlation between ALS and inflammatory bowel disease, ulcerative colitis, and Crohn's disease. Three novel ALS risk genes were identified among shared risk loci.
Article
Clinical Neurology
Doaa M. Taha, Benjamin E. Clarke, Claire E. Hall, Giulia E. Tyzack, Oliver J. Ziff, Linda Greensmith, Bernadett Kalmar, Mhoriam Ahmed, Aftab Alam, Eric P. Thelin, Nuria Marco Garcia, Adel Helmy, Christopher R. Sibley, Rickie Patani
Summary: This study investigates the cellular autonomy and uniformity of astrocyte reactive transformation in different genetic forms of amyotrophic lateral sclerosis. By using enriched and human induced pluripotent stem cell-derived astrocytes from patients with VCP and SOD1 mutations, the study shows that reactive transformation can occur cell-autonomously in ALS astrocytes and there is molecular and functional heterogeneity between different disease-causing mutations.
Review
Clinical Neurology
Thomas H. Julian, Sarah Boddy, Mahjabin Islam, Julian Kurz, Katherine J. Whittaker, Tobias Moll, Calum Harvey, Sai Zhang, Michael P. Snyder, Christopher McDermott, Johnathan Cooper-Knock, Pamela J. Shaw
Summary: Mendelian randomization studies on amyotrophic lateral sclerosis show a causal link between blood lipids and the disease risk, while factors like smoking and immune function require further investigation for confirmation. The use of high methodological standards and replication across different datasets are essential for reliable results in Mendelian randomization studies.
Review
Medicine, General & Internal
Can Cui, Jiangwei Sun, Kyla A. McKay, Caroline Ingre, Fang Fang
Summary: This systematic review investigated the association between medication use and ALS risk, and found no strong evidence linking any medication use with the risk of ALS.
Article
Clinical Neurology
Philippe Corcia, Pascal Lejeune, Patrick Vourc'h, Stephane Beltran, Anne-Sophie Piegay, Helene Blasco, Vincent Meininger
Summary: This study characterized the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations and identified clinical indications for testing mutations in this gene. The main clinical findings for familial ALS linked to PFN1 were identified as pedigrees with over five cases, an onset age around 50 years, onset in the lower limbs, and the absence of cognitive impairment. The similarities with other ALS mutations prompt a review of ALS classifications based on both phenotype and genotype.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Barbara Teruel-Pena, Jose Luis Gomez-Urquiza, Nora Suleiman-Martos, Isabel Prieto, Francisco Jose Garcia-Cozar, Manuel Ramirez-Sanchez, Carmen Fernandez-Martos, German Dominguez-Vias
Summary: Amyotrophic lateral sclerosis (ALS) is characterized by the progressive loss of motor neurons and biomarkers for ALS are important for disease detection and therapeutic targets. This study conducted a systematic review and meta-analyses of genetic loci associated with ALS using genome-wide association studies (GWASs). Aminopeptidases were identified as possible biomarkers, but the meta-analyses did not show a risk association between the genetic variation rs1060404 in the DPP6 gene and ALS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Neurosciences
Shuangwu Liu, Yuying Zhao, Qingguo Ren, Dong Zhang, Kai Shao, Pengfei Lin, Ying Yuan, Tingjun Dai, Yongqing Zhang, Ling Li, Wei Li, Peiyan Shan, Xiangshui Meng, Qian Wang, Chuanzhu Yan
Summary: This study investigated amygdala abnormalities in ALS patients, revealing distinct patterns at different clinical disease stages and highlighting their impact on anxiety and cognitive dysfunction.
HUMAN BRAIN MAPPING
(2022)
Article
Medicine, General & Internal
Asako Kakimoto, Masatoshi Ishizaki, Hidetsugu Ueyama, Yasushi Maeda, Mitsuharu Ueda
Summary: The study investigated the effect of long-term treatment with edaravone on renal function in ALS patients using serum estimated glomerular filtration rate based on cystatin C (eGFR-CysC). Results showed no clinical exacerbation of renal function in ALS patients who received long-term treatment with edaravone, although some patients experienced a decrease in serum eGFR-CysC. None of the patients discontinued edaravone treatment due to renal dysfunction.
Article
Biochemistry & Molecular Biology
Francesca Pregnolato, Lidia Cova, Alberto Doretti, Donatella Bardelli, Vincenzo Silani, Patrizia Bossolasco
Summary: This pilot study did not find a strong pathological role of exosome-derived miRNA in ALS, but identified six biological processes shared across miRNAs in samples with the highest miRNA content. Further investigation is needed to elucidate the role of exosome-derived miRNA in ALS.
Review
Biochemistry & Molecular Biology
Katarina Maksimovic, Mohieldin Youssef, Justin You, Hoon-Ki Sung, Jeehye Park
Summary: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects motor neurons, leading to muscle weakness, paralysis, and eventual death. Recent research has shown that ALS is not only limited to motor neurons, but also involves systemic metabolic dysfunction. This review examines the metabolic dysfunction in ALS at various levels, including muscle tissue, adipose tissue, liver, pancreas, and the central nervous system. It also discusses the future prospects of metabolic research in ALS and potential treatment options.
Article
Cardiac & Cardiovascular Systems
Ana Catarina Pronto-Laborinho, Catarina S. Lopes, Vasco A. Conceicao, Marta Gromicho, Nuno C. Santos, Mamede de Carvalho, Filomena A. Carvalho
Summary: The study found a positive association between gamma' fibrinogen concentration and survival in ALS patients, with those having higher levels surviving longer, independent of other factors. This novel biomarker shows promise for further research in ALS.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Elisa Duranti, Chiara Villa
Summary: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by progressive loss of motor neurons (MNs) in the brain and spinal cord. The aggregation and accumulation of ubiquitinated protein inclusions in degenerating MNs are key pathological features of ALS. Recent research has provided insights into the molecular mechanisms underlying protein aggregate accumulation in ALS, which may aid in the development of therapeutic strategies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Editorial Material
Biodiversity Conservation
Sebastian Seibold, Torsten Hothorn, Martin M. Gossner, Nadja K. Simons, Nico Bluthgen, Jorg Muller, Didem Ambarli, Christian Ammer, Jurgen Bauhus, Markus Fischer, Jan C. Habel, Caterina Penone, Peter Schall, Ernst-Detlef Schulze, Wolfgang W. Weisser
Summary: Existing datasets on insect biodiversity are often limited, and while new monitoring programs have been initiated, they still cover rather short time periods. Some researchers argue that temporal trends of insect populations derived from short time series are biased towards extreme trends, while others suggest that there is no overall decline in insect population.
INSECT CONSERVATION AND DIVERSITY
(2021)
Article
Statistics & Probability
Nadja Klein, Torsten Hothorn, Luisa Barbanti, Thomas Kneib
Summary: Regression models are an important aspect of contemporary regression analysis, but often rely on simplistic assumptions. We propose a general framework for multivariate conditional transformation models that can describe the entire distribution in a tractable and interpretable yet flexible way, allowing for non-linear effects of covariates and likelihood-based inference.
SCANDINAVIAN JOURNAL OF STATISTICS
(2022)
Article
Critical Care Medicine
Muriel Buri, Lorenzo G. Tanadini, Torsten Hothorn, Armin Curt
Summary: URP-CTREE, as a clinical guidance tool, demonstrates high accuracy in predicting future clinical outcomes, showing robustness and replicability in identifying homogeneous subgroups.
JOURNAL OF NEUROTRAUMA
(2022)
Article
Computer Science, Artificial Intelligence
Lucas Kook, Lisa Herzog, Torsten Hothorn, Oliver Durr, Beate Sick
Summary: This study introduces ordinal neural network transformation models that combine deep learning with classical ordinal regression approaches, achieving a balance between flexibility and interpretability for image and tabular data modeling, with faster training speed than traditional DL models.
PATTERN RECOGNITION
(2022)
Letter
Hematology
Jun-ichi Nishimura, Kensuke Usuki, Julia Ramos, Satoshi Ichikawa, Muriel Buri, Anna Kiialainen, Alexandre Sostelly, Regis Peffault de Latour, Ido Paz-Priel, Alexander Roth
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Ecology
Jana Englmeier, Oliver Mitesser, M. Eric Benbow, Torsten Hothorn, Christian von Hoermann, Caryl Benjamin, Ute Fricke, Cristina Ganuza, Maria Haensel, Sarah Redlich, Rebekka Riebl, Sandra Rojas Botero, Thomas Rummler, Ingolf Steffan-Dewenter, Elisa Stengel, Cynthia Tobisch, Johannes Uhler, Lars Uphus, Jie Zhang, Jorg Mueller
Summary: Land-use intensification and climate change pose threats to ecosystem functions, especially the decomposition of necromass. This study measured the decomposition of rat carrion and bison dung across a climate gradient and different land-use types, finding that decomposition of dung was influenced by elevation while carrion decomposition was affected by both elevation and temperature. Insects played a significant role in carrion decay but had no effect on dung decomposition. The findings highlight the potential impacts of climate change and insect decline on decomposition processes and ecosystem self-regulation.
Article
Mathematical & Computational Biology
Sandra Siegfried, Stephen Senn, Torsten Hothorn
Summary: The question of how to leverage individual patient data for designing more powerful clinical trials becomes increasingly important in the era of digitalization. Incorporating historical information in the design and analysis of future clinical trials can lead to smaller yet equally powerful studies. A study found that adjusting the analysis with respect to a prognostic score obtained from historical data can significantly reduce the required sample size.
BIOMETRICAL JOURNAL
(2023)
Article
Biodiversity Conservation
Johannes Uhler, Peter Haase, Lara Hoffmann, Torsten Hothorn, Jurgen Schmidl, Stefan Stoll, Ellen A. R. Welti, Jorn Buse, Jorg Mueller
Summary: This study compared the effects of different Malaise trap types on insect biomass and species richness. It found that trap type significantly influences the captured insect biomass and species richness. The Townes trap models showed higher total species richness compared to Bartak traps, and the white roofed Townes trap captured a higher richness of pollinators.
INSECT CONSERVATION AND DIVERSITY
(2022)
Article
Mathematical & Computational Biology
Luisa Barbanti, Torsten Hothorn
Summary: This paper presents a novel model for clustered observations, which can be applied to various types of response variables. The model is demonstrated using sleep deprivation and toe nail data, and the analysis of two clinical trials is discussed. Overall, the paper provides a new approach for analyzing clustered observations.
Article
Biodiversity Conservation
Joerg Mueller, Oliver Mitesser, Marc W. Cadotte, Fons van der Plas, Akira S. Mori, Christian Ammer, Anne Chao, Michael Scherer-Lorenzen, Petr Baldrian, Claus Baessler, Peter Biedermann, Simone Cesarz, Alice Classen, Benjamin M. Delory, Heike Feldhaar, Andreas Fichtner, Torsten Hothorn, Claudia Kuenzer, Marcell K. Peters, Kerstin Pierick, Thomas Schmitt, Bernhard Schuldt, Dominik Seidel, Diana Six, Ingolf Steffan-Dewenter, Simon Thorn, Goddert von Oheimb, Martin Wegmann, Wolfgang W. Weisser, Nico Eisenhauer
Summary: Intensification of land use by humans has led to a homogenization of landscapes and decreasing resilience of ecosystems globally due to a loss of biodiversity, including the majority of forests. Biodiversity-ecosystem functioning (BEF) research has provided compelling evidence for a positive effect of biodiversity on ecosystem functions and services at the local (alpha-diversity) scale, but we largely lack empirical evidence on how the loss of between-patch beta-diversity affects biodiversity and multifunctionality at the landscape scale (gamma-diversity).
GLOBAL CHANGE BIOLOGY
(2023)
Article
Computer Science, Theory & Methods
David Ruegamer, Philipp F. M. Baumann, Thomas Kneib, Torsten Hothorn
Summary: Probabilistic forecasting of time series is a crucial task in various applications and research domains. This paper introduces Autoregressive Transformation Models (ATMs), which aim to combine expressive distributional forecasts with an interpretable model specification by utilizing a semi-parametric distribution assumption. The properties of ATMs are demonstrated through both theoretical analysis and empirical evaluation on simulated and real-world forecasting datasets.
STATISTICS AND COMPUTING
(2023)
Article
Statistics & Probability
Sandra Siegfried, Lucas Kook, Torsten Hothorn
Summary: We introduce a generalized additive model for location, scale, and shape (GAMLSS) for distribution-free and parsimonious regression modelling. The model replaces strict parametric distribution with a transformation function and limits the number of linear or smooth model terms. Likelihood and score functions are derived for various types of observations. Various algorithms are used for model estimation and parameter interpretability is connected to model selection. A novel best subset selection procedure is proposed for simpler interpretation. Numerous applications are provided as examples and all analyses are reproducible using the tram add-on package to the R system.
AMERICAN STATISTICIAN
(2023)
Article
Health Care Sciences & Services
Ainesh Sewak, Torsten Hothorn
Summary: Receiver operating characteristic analysis is widely used for evaluating the accuracy of medical diagnostic tests. However, there is no consensus on a single framework for consistent statistical inference in handling complex medical data. We propose a regression model that accommodates these complexities and provides unbiased estimates with nominal coverage.
STATISTICAL METHODS IN MEDICAL RESEARCH
(2023)
Article
Clinical Neurology
Adrian Cathomen, Laura Sirucek, Tim Killeen, Rainer Abel, Doris Maier, Norbert Weidner, Rudiger Rupp, Torsten Hothorn, John D. Steeves, Armin Curt, Marc Bolliger
Summary: This study used URP-CTREE to analyze data from 309 SCI patients, identifying homogeneous outcome cohorts, which were validated by an internal validation group. This method can help design clinical trials with broad inclusion criteria and improve the quality of research design.
NEUROREHABILITATION AND NEURAL REPAIR
(2022)
Article
Mathematical & Computational Biology
Balint Tamasi, Michael Crowther, Milo Alan Puhan, Ewout W. Steyerberg, Torsten Hothorn
Summary: This study introduces a new model class for meta-analysis of individual participant data (IPD) that incorporates general normally distributed random effects into linear transformation models and can handle data with arbitrary random censoring patterns. The proposed method shows efficiency in predicting the survival of patients with chronic obstructive pulmonary disease, compared to alternative approaches. Simulation study confirms the correctness of the implementation and highlights the efficiency of the proposed method.
