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About 110,983 results

Leveraging process mining for modeling progression trajectories in amyotrophic lateral ...
https://doi.org/10.1186/s12911-023-02113-7
BMC Medical Informatics and Decision Making; Tavazzi E, Gatta R et. al.

Feb 4th, 2023 - Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease whose spreading and progression mechanisms are still unclear. The ability to predict ALS prognosis would improve the patients' quality of life and support clinicians in planning treatments. In this paper, we investigate ALS evolution trajectories using Process Mining (PM) techniques enriched to both easily mine processes and aut...

Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse m...
https://doi.org/10.1186/s40246-023-00450-2
Human Genomics; Kashii H, Kasai S et. al.

Feb 4th, 2023 - Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that is associated with neurological symptoms, including autism spectrum disorder. Tuberous sclerosis complex is caused by pathogenic germline mutations of either the TSC1 or TSC2 gene, but somatic mutations were identified in both genes, and the combined effects of TSC1 and TSC2 mutations have been unknown. The present study in...

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lat...
https://doi.org/10.1111/ene.15727
European Journal of Neurology; Lattante S, Sabatelli M et. al.

Feb 4th, 2023 - Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated to amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study were to assess the contribution of TARDBP in a large cohort of Italian ALS patients, to determine the TARDBP-associated clinical features and to look for genotype-phenotype correlation and penetrance of the mut...

NFATc2-dependent Epigenetic Downregulation of the TSC2/Beclin-1 Pathway is Involved in ...
https://doi.org/10.1177/17448069231158289
Molecular Pain; Liu M, Mai JW et. al.

Feb 4th, 2023 - Neuropathic pain is a common dose-limiting side effect of oxaliplatin, which hampers the effective treatment of tumors. Here, we found that upregulation of transcription factor NFATc2 decreased the expression of Beclin-1, a critical molecule in autophagy, in the spinal dorsal horn, and contributed to neuropathic pain following oxaliplatin treatment. Meanwhile, manipulating autophagy levels by i...

The KEAP1-NRF2 system and neurodegenerative diseases.
https://doi.org/10.1089/ars.2023.0005
Antioxidants & Redox Signaling; Uruno A, Yamamoto M

Feb 4th, 2023 - Significance: Central nervous system (CNS) diseases are disorders of the brain and/or spinal cord and include neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), and multiple sclerosis (MS). NF-E2-related factor 2 (NRF2) is a transcription factor belonging to the cap-n-collar (CNC) family that harbors a unique basic leucine zipper motif and plays as a master r...

Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: outcomes of a ded...
https://doi.org/10.1007/s00464-023-09896-w
Surgical Endoscopy; Morrell DJ, Chau MH et. al.

Feb 4th, 2023 - Patients requiring percutaneous endoscopic gastrostomy (PEG) for amyotrophic lateral sclerosis (ALS) related dysphagia represent a clinical challenge. Diminished pulmonary function and aspiration risks can lead to anesthesia-related complications, and gastric displacement from hemidiaphragm elevation may preclude safe gastric access. This study reports the efficacy and outcomes of a dedicated a...

Study of the Disease Process of Lymphangioleiomyomatosis
https://clinicaltrials.gov/ct2/show/NCT00001465

Feb 3rd, 2023 - Individuals with pulmonary lymphangioleiomyomatosis develop severe destructive lung disease. Most of them are females of childbearing age. Currently, there is no proven effective therapy and the prognosis is variable. This study is designed to (a) define the clinical course of the disease and (b) elucidate the pathogenesis of the disease at the cellular and molecular levels, in order to develop...

Study of Skin Tumors in Tuberous Sclerosis
https://clinicaltrials.gov/ct2/show/NCT00001975

Feb 3rd, 2023 - Patients with tuberous sclerosis develop benign cutaneous tumors that are typically multiple in number and location. These tumors include facial angiofibromas, forehead plaques, shagreen patches, periungual fibromas, and gingival fibromas. The tumors are permanent, slow growing, and often disfiguring. The purpose of this study is to elucidate the molecular basis for these tumors. Specifically, ...

A Teleheath tDCS Approach to Decrease Cannabis Use
https://clinicaltrials.gov/ct2/show/NCT05005013

Feb 3rd, 2023 - The study aims to evaluate the effect of Dorsolateral Prefrontal Cortex (DLPFC) Transcranial Direct Current Stimulation (tDCS) in decreasing distress and cannabis use. 46 participants with Relapse Remitting Multiple Sclerosis (RRMS), Cannabis Use Disorder (CUD) and elevated distress (K10 score of 10-35) will be recruited.

Phase 2 Study for SAR443820 in Participants With Amyotrophic Lateral Sclerosis (ALS)
https://clinicaltrials.gov/ct2/show/NCT05237284

Feb 3rd, 2023 - Part A of the study will last for 24 weeks, and participants will receive BID oral SAR443820 or placebo in a double-blind fashion for 24 weeks. All ongoing participants in Part A will rollover to Part B. Part B begins at the end of Week 24 and continues up to Week 106. All participants except those who discontinued Investigational Medicinal Product (IMP) treatment permanently in Part A will rec...

A Study to Investigate the Efficacy of Fenebrutinib in Relapsing Multiple Sclerosis (RMS)
https://clinicaltrials.gov/ct2/show/NCT05119569

Feb 3rd, 2023 - This is a study evaluating the effect of fenebrutinib on brain magnetic resonance imaging (MRI) in participants with RMS. The safety and pharmacokinetics of fenebrutinib will also be evaluated. Participants will be randomized to receive either fenebrutinib or placebo.

One-year prediction of cognitive decline following cognitive-stimulation from real-worl...
https://doi.org/10.1111/jnp.12307
Journal of Neuropsychology; Camino-Pontes B, Gonzalez-Lopez F et. al.

Feb 3rd, 2023 - Clinical evidence based on real-world data (RWD) is accumulating exponentially providing larger sample sizes available, which demand novel methods to deal with the enhanced heterogeneity of the data. Here, we used RWD to assess the prediction of cognitive decline in a large heterogeneous sample of participants being enrolled with cognitive stimulation, a phenomenon that is of great interest to ...

Icariin Ameliorates Behavioral Deficits and Neuropathology in a Mouse Model of Multiple...
https://doi.org/10.1016/j.brainres.2023.148267
Brain Research; Gao D, Zheng CC et. al.

Feb 3rd, 2023 - Multiple sclerosis (MS) is a systemic inflammatory illness of the central nervous system that involves demyelinating lesions in the myelin-rich white matter and pathology in the grey matter. Despite significant advancements in drug research for MS, the disease's complex pathophysiology makes it difficult to treat the progressive forms of the disease. In this study, we identified a natural flavo...

Genetically determined serum serine level has a novel causal effect on multiple scleros...
https://doi.org/10.1136/jnnp-2022-330259
Journal of Neurology, Neurosurgery, and Psychiatry; Lin X, Yang Y et. al.

Feb 3rd, 2023 - There are currently no specific biomarkers for multiple sclerosis (MS). Identifying robust biomarkers for MS is crucial to improve disease diagnosis and management. This study first used six Mendelian randomisation methods to assess causal relationship of 174 metabolites with MS, incorporating data from European-ancestry metabolomics (n=8569-86 507) and MS (n=14 802 MS cases, 26 703 controls) g...

A cellular taxonomy of the adult human spinal cord.
https://doi.org/10.1016/j.neuron.2023.01.007
Neuron Yadav A, Matson KJE et. al.

Feb 3rd, 2023 - The mammalian spinal cord functions as a community of cell types for sensory processing, autonomic control, and movement. While animal models have advanced our understanding of spinal cellular diversity, characterizing human biology directly is important to uncover specialized features of basic function and human pathology. Here, we present a cellular taxonomy of the adult human spinal cord usi...

Detecting seasonal trends in optic neuritis within the Ottawa region.
https://doi.org/10.1016/j.jcjo.2023.01.007
Canadian Journal of Ophthalmology. Journal Canadien D'oph... Kundapur D, Badeeb N et. al.

Feb 3rd, 2023 - In this study we aim to determine seasonal patterns underlying optic neuritis (ON) onset that may provide valuable epidemiologic information and help delineate causative or protective factors. Single-centre retrospective chart review. A database search of centralized electronic health records was completed using diagnostic codes employed at the Ottawa Eye Institute for data collection. Charts w...

Additional value of T1 and T2 mapping techniques for early detection of myocardial invo...
https://doi.org/10.1016/j.ijcard.2023.01.066
International Journal of Cardiology; Meloni A, Gargani L et. al.

Feb 3rd, 2023 - We evaluated the prevalence of myocardial involvement by native T1 and T2 mapping, the diagnostic performance of mapping in addition to conventional Lake Louise Criteria (LLC), as well as correlations between mapping findings and clinical or conventional cardiovascular magnetic resonance (CMR) parameters in systemic sclerosis (SSc) patients. Fifty-five SSc patients (52.31 ± 13.24 years, 81.8% f...

Cerebrospinal fluid immunoglobulins in primary progressive multiple sclerosis are patho...
https://doi.org/10.1093/brain/awad031
Brain : a Journal of Neurology; Wong JK, Lin J et. al.

Feb 3rd, 2023 - Multiple sclerosis is clinically characterized by relapses and remissions (relapsing-remitting multiple sclerosis) that over time may evolve to a progressive course (secondary progressive multiple sclerosis) or as having a progressive course from disease onset (primary progressive multiple sclerosis). At present, it is not definitively known whether these clinical entities constitute a single p...

Evaluating the impact of patient-reported outcome measures on depression and anxiety le...
https://doi.org/10.1186/s12883-023-03090-0
BMC Neurology; Chu NY, Watson KE et. al.

Feb 3rd, 2023 - Multiple sclerosis (MS) is a chronic disease affecting multiple functional aspects of patients' lives. Depression and anxiety are common amongst persons with MS (PwMS). There has been an interest in utilizing patient-reported outcome measures (PROMs) to capture and systematically assess patient's perceptions of their MS experience in addition to other clinical measures, but PROMs are not usuall...

Regulatory T Cells for Amyotrophic Lateral Sclerosis
https://clinicaltrials.gov/ct2/show/NCT05695521

Feb 3rd, 2023 - CK0803, neurotrophic allogenic T regulatory Cells (Treg), utilizes Cellenkos' proprietary CRANE technology to generate disease specific products. The primary objective of the upcoming phase 1 study is to establish safety and tolerability of multiple doses of CK0803 in ALS patients. The goal of the phase 1b study is to extend safety and establish efficacy of CK0803 in ALS using the combined asse...