612 results match your criteria: "Department of Neurology Charité - University Medicine Berlin[Affiliation]"

Background: Excessive supraventricular ectopic activity (ESVEA) is regarded as a risk marker for later atrial fibrillation (AF) detection.

Methods And Results: The investigator-initiated, prospective, open, multicenter MonDAFIS (Impact of Standardized Monitoring for Detection of Atrial Fibrillation in Ischemic Stroke) study randomized 3465 patients with acute ischemic stroke without known AF 1:1 to usual diagnostic procedures for AF detection or additive Holter monitoring in hospital for up to 7 days, analyzed in a core laboratory. Secondary study objectives include the comparison of recurrent stroke, myocardial infarction, major bleeding, and all-cause death within 24 months in patients with ESVEA (defined as ectopic supraventricular beats ≥480/day or atrial runs of 10-29 seconds or both) versus patients with newly diagnosed AF versus patients without ESVEA or AF (non-ESVEA/AF), randomized to the intervention group.

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Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

Biomedicines

November 2024

Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45122 Essen, Germany.

: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.

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Background: Postoperative delirium (POD) is the most common neurological adverse event among elderly patients undergoing surgery. POD is associated with an increased risk for postoperative complications, long-term cognitive decline, an increase in morbidity and mortality as well as extended hospital stays. Delirium prevention and treatment options are currently limited.

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Article Synopsis
  • The study investigated cognitive impairments in cerebellar disorders and identified two subtypes of cerebellar cognitive affective syndrome (CCAS) using cluster analysis.
  • The German CCAS-Scale was utilized to assess 205 cerebellar patients and 200 controls, revealing one cluster with severe cognitive impairment and another with milder deficits that often overlapped with healthy controls.
  • Findings suggest that cognitive performance in cerebellar patients is influenced by both demographic factors and cluster assignment, indicating that the assessment tool may struggle to detect milder impairments.
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RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Genet Med

December 2024

Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Article Synopsis
  • RORA is a gene linked to the development and function of the cerebellum, and this study explores the largest group of individuals with RORA-related neurodevelopmental disorders (RORA-NDD).
  • The study involved 40 participants with various pathogenic variants of RORA, revealing a range of clinical features including developmental and intellectual disabilities, as well as cerebellar symptoms that can vary in onset and severity.
  • Findings indicate that certain missense variants are associated with more severe cerebellar issues, and common elements of RORA-NDD include developmental disabilities, cerebellar symptoms, and different types of myoclonic epilepsy.
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  • Many patients with atrial fibrillation (AF) are not receiving or are stopping oral anticoagulation therapy, despite its importance for stroke prevention.
  • While direct oral anticoagulants (DOACs) are available, issues like bleeding risks, poor compliance, and aversion to treatment contribute to this problem.
  • A recent expert consensus guide highlights left atrial appendage closure (LAAC) as a safe alternative for stroke prevention in patients who cannot use long-term anticoagulation, detailing the devices, implantation technique, and follow-up requirements for non-implanting physicians.
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Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants.

Methods: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB.

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  • * Researchers analyzed MRI scans from 501 stroke patients to assess regional brain-PAD and lesion loads, discovering that larger stroke lesions correlate with older brain-PAD in the affected areas and younger brain-PAD in the opposite hemisphere.
  • * The findings highlight that the severity of stroke damage is linked to poorer motor function, with machine learning models identifying specific brain regions and lesion characteristics as key predictors of motor outcomes.
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Long-term FXa inhibition attenuates thromboinflammation after acute myocardial infarction and stroke by platelet proteome alteration.

J Thromb Haemost

November 2024

Deutsches Herzzentrum der Charité University Hospital Berlin, Department of Cardiology, Angiology and Intensive Care Medicine, Campus Benjamin Franklin, Hindenburgdamm 30, 12203 Berlin, Germany; Deutsches Herzzentrum der Charité (German Centre for Cardiovascular Research), Partner site Berlin, Berlin, Germany; Friede Springer, Centre of Cardiovascular Prevention at Charité, Charité University Medicine Berlin, Berlin, Germany. Electronic address:

Article Synopsis
  • Long-term factor Xa (FXa) inhibition shows promise in reducing inflammation and improving outcomes after heart attacks and strokes by impacting platelet function.
  • In experiments with mice, chronic FXa inhibition led to smaller brain and heart injury sizes and better cardiac function compared to acute inhibition.
  • Analysis of patients revealed that those receiving FXa inhibitors had reduced infarct sizes and showed changes in platelet proteins that suggest decreased release of substances that promote inflammation and clotting.
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Robotic-assisted extended thymectomy for large resectable thymoma: 21 years' experience.

J Thorac Cardiovasc Surg

August 2024

Department of Surgery, Competence Center of Thoracic Surgery, Charité Universitätsmedizin Berlin, Berlin, Germany. Electronic address:

Objective: This study aims to evaluate the perioperative and midterm oncological outcomes of robotic-assisted thoracic surgery extended thymectomy for patients with large resectable thymomas compared with small thymomas.

Methods: This retrospective single-center study included 204 patients with thymomas who underwent robotic-assisted thoracic surgery extended thymectomy between January 2003 and February 2024. Patients were divided into 2 groups based on the thymoma size (5-cm threshold).

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  • Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
  • The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
  • Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
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  • The study aimed to create a shorter version of the Progressive Supranuclear Palsy quality of life scale (PSP-QoL) to make it easier for patients, especially those with cognitive impairments, to complete.
  • Involved a retrospective analysis of data from 245 PSP patients in Germany, resulting in a condensed 12-item scale that covers mental and physical aspects of daily living.
  • The new scale, called the PSP-ShoQoL, showed strong correlations with existing measures of quality of life and demonstrated its sensitivity to changes over time.
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  • Platelet homeostasis is vital for blood vessel stability and immune response, but the mechanisms behind the replenishment of their precursor cells (megakaryocytes) are not well understood.
  • Researchers used intravital imaging to discover that plasmacytoid dendritic cells (pDCs) act as sensors in the bone marrow that detect dying megakaryocytes and stimulate the proliferation of their progenitor cells through the release of IFNα.
  • The study highlights that while pDCs usually help fight viral infections, their activation by viruses like SARS-CoV-2 disrupts their monitoring function, leading to an overproduction of megakaryocytes.
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Excessive stride variability is a characteristic feature of cerebellar ataxias, even in pre-ataxic or prodromal disease stages. This study explores the relation of variability of arm swing and trunk deflection in relationship to stride length and gait speed in previously described cohorts of cerebellar disease and healthy elderly: we examined 10 patients with spinocerebellar ataxia type 14 (SCA), 12 patients with essential tremor (ET), and 67 healthy elderly (HE). Using inertial sensors, recordings of gait performance were conducted at different subjective walking speeds to delineate gait parameters and respective coefficients of variability (CoV).

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Interpersonal touch represents the primal sensory experience between humans, fostering social bonding from the cradle to the death bed. In recent decades "affective touch" has been intensely studied, stimulated by the discovery of a population of mechanosensitive unmyelinated C-tactile afferents in mammalian skin. A lack of touch in childhood is associated with negative consequences for psychosocial and physical health and the benefits of professional touch techniques in the prevention and treatment of various diseases have been shown over and over again in clinical studies.

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  • Deep Brain Stimulation (DBS) effectively improves symptoms of Parkinson's disease, including tremor, bradykinesia, rigidity, and axial symptoms, by stimulating specific white matter tracts.
  • A study involving 237 patients identified distinct brain tracts linked to improvements in each symptom, with tremor associated with the primary motor cortex and cerebellum, and axial symptoms linked to the supplementary motor cortex and brainstem.
  • An introduced algorithm utilizes these symptom-tract connections to tailor DBS settings for individual patients, aiming to enhance treatment effectiveness based on the most impactful symptoms for each person.
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Background: Depending on the underlying etiology and epilepsy type, the burden of disease for patients with seizures can vary significantly. This analysis aimed to compare direct and indirect costs and quality of life (QoL) among adults with tuberous sclerosis complex (TSC) related with epilepsy, idiopathic generalized epilepsy (IGE), and focal epilepsy (FE) in Germany.

Methods: Questionnaire responses from 92 patients with TSC and epilepsy were matched by age and gender, with responses from 92 patients with IGE and 92 patients with FE collected in independent studies.

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Introduction: Deep brain stimulation (DBS) is a highly effective treatment option in Parkinson's disease. However, the underlying mechanisms of action, particularly effects on neuronal plasticity, remain enigmatic. Adult neurogenesis in the subventricular zone-olfactory bulb (SVZ-OB) axis and in the dentate gyrus (DG) has been linked to various non-motor symptoms in PD, e.

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European Consensus on the Management of Sensitized Kidney Transplant Recipients: A Delphi Study.

Transpl Int

April 2024

Service de Transplantation, Néphrologie et Immunologie Clinique, Hospices Civils de Lyon, Lyon, France.

An increasing number of sensitized patients awaiting transplantation face limited options, leading to fatalities during dialysis and higher costs. The absence of established evidence highlights the need for collaborative consensus. Donor-specific antibodies (DSA)-triggered antibody-mediated rejection (AMR) significantly contributes to kidney graft failure, especially in sensitized patients.

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  • Early diagnosis and treatment are crucial for improving outcomes in infants with spinal muscular atrophy (SMA), leading to the implementation of newborn screening programs, but there is a lack of robust data confirming their benefits.* -
  • This study compared SMA patients diagnosed through newborn screening to those diagnosed after symptoms appeared, using data from 234 children across Germany, Austria, and Switzerland from the SMARTCARE registry.* -
  • Results showed that infants identified through newborn screening started treatment significantly earlier (average 1.3 months) than those diagnosed by symptoms (average 10.7 months), leading to better motor milestones, such as higher rates of independent sitting and walking.*
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Connectome spectrum electromagnetic tomography (CSET) combines diffusion MRI-derived structural connectivity data with well-established graph signal processing tools to solve the M/EEG inverse problem. Using simulated EEG signals from fMRI responses, and two EEG datasets on visual-evoked potentials, we provide evidence supporting that (i) CSET captures realistic neurophysiological patterns with better accuracy than state-of-the-art methods, (ii) CSET can reconstruct brain responses more accurately and with more robustness to intrinsic noise in the EEG signal. These results demonstrate that CSET offers high spatio-temporal accuracy, enabling neuroscientists to extend their research beyond the current limitations of low sampling frequency in functional MRI and the poor spatial resolution of M/EEG.

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Worldwide stroke is the second leading cause of death and the third leading cause of death and disability combined. The estimated global economic burden by stroke is over US$891 billion per year. Within three decades (1990-2019), the incidence increased by 70%, deaths by 43%, prevalence by 102%, and DALYs by 143%.

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Objective: Inflammatory myopathies (IIM) include dermatomyositis (DM), sporadic inclusion body myositis (sIBM), immune-mediated necrotizing myopathy (IMNM), and overlap myositis (OLM)/antisynthetase syndrome (ASyS). There is also a rare variant termed polymyositis with mitochondrial pathology (PM-Mito), which is considered a sIBM precursor. There is no information regarding muscle MRI for this rare entity.

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