Publications by authors named "Weiler M"

Introduction: Ixodes ricinus, the castor bean tick, is the most prevalent tick species in Europe. It favours habitats such as shrubs, deciduous and mixed forests, but can also be found in urban environments. Due to its high vector competence, it is of enormous veterinary as well as medical importance, transmitting tick-borne encephalitis (TBE) virus, Borrelia burgdorferi s.

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This study explores the potential of H-NMR spectroscopy-based metabolic profiling in various biofluids as a diagnostic and predictive modality to assess disease severity in individuals with 5q spinal muscular atrophy. A total of 213 biosamples (urine, plasma, and CSF) from 153 treatment-naïve patients with SMA across five German centers were analyzed using H-NMR spectroscopy. Prediction models were developed using machine learning algorithms which enabled the patients with SMA to be grouped according to disease severity.

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Background And Purpose: Sparse information is available on the correct interpretation of elevated high-sensitivity cardiac troponin (hs-cTn) in confirmed muscular dystrophies.

Methods: Serum concentrations of hs-cTn T (hs-cTnT) and hs-cTn I (hs-cTnI) were determined in 35 stable outpatients with confirmed skeletal muscle dystrophies. We calculated sensitivities, specificities, and positive and negative predictive values of hs-cTnT and hs-cTnI for identification of cardiac involvement using a comprehensive definition that included diastolic left ventricular and right ventricular function, strain analysis using two-dimensional transthoracic echocardiogram and magnetic resonance imaging, myocardial biopsies, and consideration of a variety of triggers for cardiac injury, including arrhythmias, conduction disorders, and hypoxemia due to respiratory failure.

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A two port surface acoustic wave (SAW) device was developed to be used for the control and excitation via spin waves (SW). The structure was manufactured using advanced nanolithography techniques, on GaN/Si, enabling fundamental Rayleigh interdigitated transducer (IDT) resonances in GHz frequency range. The ferromagnetic resonance of the magnetostrictive Ni/NiFeSi layer placed between the IDTs of the SAW device can be tuned to the SAW resonance frequency by magnetic fields.

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Background: Previously, T2-relaxation time (T2) and proton spin density (ρ) detected nerve injury in a small group of ATTRv amyloidosis. Here, we aim to quantify peripheral nerve impairment in a large cohort of symptomatic and asymptomatic ATTRv amyloidosis and correlate T2-relaxometry markers with clinical parameters and nerve conduction studies (NCS).

Methods: Eighty participants with pathologic variants of the gene () and 40 controls prospectively underwent magnetic resonance neurography.

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Molecular ultrasound imaging with actively targeted microbubbles (MB) proved promising in preclinical studies but its clinical translation is limited. To achieve this, it is essential that the actively targeted MB can be produced with high batch-to-batch reproducibility with a controllable and defined number of binding ligands on the surface. In this regard, poly (n-butyl cyanoacrylate) (PBCA)-based polymeric MB have been used for US molecular imaging, however, ligand coupling was mostly done via hydrolysis and carbodiimide chemistry, which is a multi-step procedure with poor reproducibility and low MB yield.

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Microbubbles (MB) are widely used as contrast agents for ultrasound (US) imaging and US-enhanced drug delivery. Polymeric MB are highly suitable for these applications because of their acoustic responsiveness, high drug loading capability, and ease of surface functionalization. While many studies have focused on using polymeric MB for diagnostic and therapeutic purposes, relatively little attention has thus far been paid to improving their inherent imaging and drug delivery features.

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Disease-modifying therapeutics in the α-synucleinopathies multiple system atrophy (MSA) and Parkinson's Disease (PD) are in early phases of clinical testing. Involving patients' preferences including therapy-associated risk willingness in initial stages of therapy development has been increasingly pursued in regulatory approval processes. In our study with 49 MSA and 38 PD patients, therapy-associated risk willingness was quantified using validated standard gamble scenarios for varying severities of potential drug or surgical side effects.

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Article Synopsis
  • - The phase 3 NEURO-TTRansform trial demonstrated that eplontersen significantly reduced transthyretin (TTR) levels and halted the progression of neuropathy impairment in patients with hereditary TTR-mediated amyloidosis after 65 weeks of treatment.
  • - The study involved patients initially receiving inotersen, who then switched to eplontersen, resulting in a greater reduction of TTR levels and stabilized quality of life and nutritional status during the eplontersen treatment.
  • - Patients who switched to eplontersen experienced fewer treatment-emergent adverse events, restored platelet counts, and overall better tolerability, indicating a favorable benefit-risk profile for this treatment strategy. *
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Background: More responsive, reliable, and clinically valid endpoints of disability are essential to reduce size, duration, and burden of clinical trials in adult persons with spinal muscular atrophy (aPwSMA).

Objective: The aim is to investigate the feasibility of smartphone-based assessments in aPwSMA and provide evidence on the reliability and construct validity of sensor-derived measures (SDMs) of mobility and manual dexterity collected remotely in aPwSMA.

Methods: Data were collected from 59 aPwSMA (23 walkers, 20 sitters and 16 non-sitters) and 30 age-matched healthy controls (HC).

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Aims: Concentrations of high-sensitivity cardiac troponin T (hs-cTnT) are frequently elevated in stable patients with confirmed muscle dystrophies. However, sparse information is available on the interpretation of serial concentration changes.

Methods: Hs-cTnT was collected in 35 stable outpatients with confirmed skeletal muscle dystrophies at 0 and 1 h and after 6-12 months during scheduled outpatient visits.

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Introduction: Amyotrophic lateral sclerosis (ALS) is an inevitably fatal condition that leads to a progressive loss of physical functioning, which results in a high psychosocial burden and organizational challenges related to medical care. Multidimensional and multiprofessional care is advised to meet the complex needs of patients and their families. Many healthcare systems, including Germany, may not be able to meet these needs because non-medical services such as psychological support or social counselling are not regularly included in the care of patients with ALS (pwALS).

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Introduction: Belief in psi, which includes psychic phenomena such as extra-sensory perception and post-mortem survival, is widespread yet controversial. According to one of the leading and perhaps most tested hypotheses, high belief in psi can be explained by differences in various aspects of cognition, including cognitive styles. Most of this research has been conducted with lay individuals.

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Out-of-body experiences (OBEs) are subjective phenomena during which individuals feel disembodied or perceive themselves as outside of their physical bodies, often resulting in profound and transformative effects. In particular, experiencers report greater heightened pro-social behavior, including more peaceful relationships, tolerance, and empathy. Drawing parallels with the phenomenon of ego dissolution induced by certain psychedelic substances, we explore the notion that OBEs may engender these changes through ego dissolution, which fosters a deep-seated sense of unity and interconnectedness with others.

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Objectives: Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system. Increasing evidence indicates additional peripheral nerve involvement in early and chronic disease stages. To investigate the evolution of peripheral nerve changes in patients first diagnosed with MS using quantitative MR neurography.

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Article Synopsis
  • Cardiac transthyretin amyloidosis (ATTR) is a deadly heart disease caused by amyloid fibril buildup, with two forms: hereditary (ATTRv) and wild-type (ATTRwt).
  • Current guidelines suggest using ACE inhibitors and beta-blockers for heart failure treatment in symptomatic patients, regardless of the cause, but their effectiveness specifically for ATTR remains unclear.
  • A study of 403 patients found that while heart failure therapy improved survival for those with ATTRwt and certain comorbidities, survival was significantly shorter for those with ATTRv undergoing the same treatment.
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Expanding upon the burgeoning discipline of magnonics, this research elucidates the intricate dynamics of spin waves (SWs) within three-dimensional nanoenvironments. It marks a shift from traditionally used planar systems to exploration of magnetization configurations and the resulting dynamics within 3D nanostructures. This study deploys micromagnetic simulations alongside ferromagnetic resonance measurements to scrutinize magnetic gyroids, periodic chiral configurations composed of chiral triple junctions with a period in nanoscale.

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Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic, therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 copies of SMN2, and there is no consensus within the SMA treatment community regarding early treatment initiation in this subgroup. To provide evidence-based insights into disease progression, we performed a retrospective analysis of 268 patients with 4 copies of SMN2 from the SMArtCARE registry in Germany, Austria and Switzerland.

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Article Synopsis
  • The study examined the long-term efficacy and safety of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) over a period of 38 months, utilizing a large cohort from Germany, Switzerland, and Austria.
  • Overall, significant improvements were noted in various motor performance measures (HFMSE, RULM, and 6MWT) at multiple time points compared to baseline, indicating ongoing benefits from the treatment.
  • No new safety concerns were found, reinforcing the idea that nusinersen remains a viable therapy for adults with SMA over extended periods.
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Purpose: Primary central nervous system (CNS) gliomas can be classified by characteristic genetic alterations. In addition to solid tissue obtained via surgery or biopsy, cell-free DNA (cfDNA) from cerebrospinal fluid (CSF) is an alternative source of material for genomic analyses.

Experimental Design: We performed targeted next-generation sequencing of CSF cfDNA in a representative cohort of 85 patients presenting at two neurooncological centers with suspicion of primary or recurrent glioma.

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Beneficial and negative effects of species interactions can strongly influence water fluxes in forest ecosystems. However, little is known about how trees dynamically adjust their water use when growing with interspecific neighbours. Therefore, we investigated the interaction effects between Fagus sylvatica (European beech) and Picea abies (Norway spruce) on water-use strategies and aboveground structural characteristics.

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Article Synopsis
  • Hereditary transthyretin amyloidosis (ATTRv) can lead to complications like polyneuropathy and cardiomyopathy, with eplontersen being investigated for its effects on heart health.
  • A study (NEURO-TTRansform) involved 144 participants with ATTRv, some of whom had cardiomyopathy, and found that eplontersen led to significant improvements in heart function compared to a historical placebo group.
  • The results showed better left ventricular ejection fraction and stroke volume in the eplontersen group, prompting further research in the ongoing CARDIO-TTRansform trial.
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Introduction: Transcranial Magnetic Stimulation (TMS) is a noninvasive technique that uses pulsed magnetic fields to affect the physiology of the brain and central nervous system. Repetitive TMS (rTMS) has been used to study and treat several neurological conditions, but its complex molecular basis is largely unexplored.

Methods: Utilizing three experimental rat models (, , and ) and employing genome-wide microarray analysis, our study reveals the extensive impact of rTMS treatment on gene expression patterns.

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Blood vessel functionality is crucial for efficient tumor-targeted drug delivery. Heterogeneous distribution and perfusion of angiogenic blood vessels contribute to suboptimal accumulation of (nano-) therapeutics in tumors and metastases. To attenuate pathological angiogenesis, an L-RNA aptamer inhibiting the CC motif chemokine ligand 2 (CCL2) was administered to mice bearing orthotopic 4T1 triple-negative breast cancer tumors.

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Background And Purpose: Multiple sclerosis (MS) is a demyelinating disorder of the central nervous system (CNS). However, there is increasing evidence of peripheral nerve involvement. This study aims to characterize the pattern of peripheral nerve changes in patients with newly diagnosed MS using quantitative magnetic resonance (MR) neurography.

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