Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study.

Background: Natural history data show that respiratory function is impaired in SMA patients. Observational studies have shown stabilization of respiratory function in adult SMA patients treated with nusinersen. However, long-term studies investigating the effect of nusinersen on respiratory function in adult SMA patients are rare.

Molecularly matched targeted therapies plus radiotherapy in glioblastoma: the phase 1/2a NM umbrella trial.

Advances in molecular understanding and diagnostic precision of glioblastoma enable the identification of key genetic alterations in a timely manner and, in principle, allow treatments with targeted compounds based on molecular markers. Here we report the results of the phase 1/2 umbrella trial NCT Neuro Master Match (NM), which evaluated targeted treatments in 228 patients with newly diagnosed glioblastoma without O6-methylguanine DNA-methyltransferase promoter hypermethylation. Stratification for treatment was conducted by a trial-specific molecular tumor board across five subtrials, each evaluating a targeted therapy-alectinib, idasanutlin, palbociclib, vismodegib or temsirolimus-selected according to the best-matching molecular alteration.

Risky online buying-shopping behavior: The role of stress responsivity on the transfer from goal-directed behavior to stimulus-response habits.

Background And Aim: There is a lack of research on the stress-related transfer from goal-directed behavior to stimulus-response habits in (early stages of) online buying-shopping disorder (BSD). This study investigated the Pavlovian-to-instrumental transfer (PIT) effect after reward devaluation (PIT-dev) as indicator of habitual behavior and its modulation by acute stress in individuals with risky (online) buying-shopping (r-BSh).

Methods: Individuals with r-BSh (n = 67) and a control group (n = 67) underwent a PIT paradigm with devaluation procedure.

Functional Neurological Disorder Among Neurology In-Patients.

Background: The high prevalence of functional neurological disorders (FND) in specialized neurological services such as epilepsy centers or dizziness clinics is well established. Few studies exist that investigate the frequency of FND among neurology in-patients.

Methods: In-hospital patients with functional neurological symptoms as part of the presenting complaint were identified by combining prospective and retrospective case ascertainment over a period of 2 years.

The impact of autoimmune comorbidities on multiple sclerosis progression: insights from a longitudinal single-center study.

Multiple sclerosis (MS) is a chronic autoimmune disease that affects the central nervous system. The presence of other conditions alongside MS imposes a substantial personal and socioeconomic burden. In particular, the impact of comorbid autoimmune diseases (AID) on MS outcomes remains uncertain.

Influenza A Infection Increases Severity of Acute Ischemic Stroke Through Neutrophil Activation and Hypercoagulability.

Background: Respiratory viruses, such as influenza viruses and SARS-CoV-2, cause severe infections of the respiratory system. Cohort studies and clinical observations indicate that patients with severe influenza A virus (IAV) infections are at an increased risk of developing an ischemic stroke event. However, the underlying mechanisms remain elusive.

General and transgender-specific quality of life in trans persons assigned female at birth: validation of the Essen Transgender Quality of Life-Inventory.

Background: Transgenderism has always been part of society, with some individuals experiencing gender dysphoria (GD). When present, it is associated with diminished quality of life (QoL), along with minority stress, compared to the cisgender population.

Aim: The primary objective of this study was the validation of the Essen Transgender Quality of Life-Inventory (ETLI), originally designed for assigned male at birth (AMAB) transgender individuals, in the German population on those assigned female at birth (AFAB).

Neuronal Pentraxin 2 as a Potential Biomarker for Nusinersen Therapy Response in Adults with Spinal Muscular Atrophy: A Pilot Study.

The treatment landscape for spinal muscular atrophy (SMA) has changed significantly with the approval of gene-based therapies such as nusinersen for adults with SMA (pwSMA). Despite their efficacy, high costs and treatment burden highlight the need for biomarkers to objectify or predict treatment response. This study aimed to identify such biomarkers.

Most prominent challenges in translational neuroscience and strategic solutions to bridge the gaps: Perspectives from an editorial board interrogation.

Recent progress in translational neuroscience has significantly advanced our understanding of neurological diseases. Research progress closely went in line with innovations in research methods, which have expanded our insights considerably beyond previous limits. However, despite the development of disease-modifying treatments, therapeutic options in brain diseases still lag behind fundamental discoveries in basic neuroscience.

Kappa free light chain concentration in serum is reduced after CD20-depletion with ocrelizumab.

Background: Kappa free light chains (KFLC), a byproduct of immunoglobulin (Ig) synthesis by B-lineage cells, can serve as an indicator for inflammatory activity. In multiple sclerosis (MS), especially the intrathecal KFLC production has gained increasing importance as a biomarker for central nervous system (CNS) inflammation and was included into the proposed 2024 revision of the McDonald criteria. In contrast, studies investigating the significance of KFLC in serum and the effects of disease-modifying therapies (DMT) on KFLC serum concentration in MS are rare.

The role of the precuneus in dissociative seizures: A structural neuroimaging study.

The neurobiology and neuropsychology of dissociative seizures is increasingly well understood, but a gap remains in understanding the neurobiological underpinnings of one of its core features: dissociation. As a transdiagnostic phenomenon, dissociation has been related to alterations in precuneus function and structure in other neuropsychiatric disorders as well as through electrical stimulation. Still, the role of the precuneus in dissociative seizures needs further investigation.

Definition of parameters and thresholds to detect MYCN amplification in retinoblastomas.

Retinoblastoma is a malignant childhood neoplasm where MYCN amplification defines a subset of tumors with worse prognosis. FISH (fluorescence in situ hybridization) represents a fast and reliable method to measure gene copy numbers in various tumors but has not yet been systematically evaluated in retinoblastoma. In this study, we define criteria for FISH detection of MYCN amplification in a systematic unbiased approach by using a well characterized series of 44 clinical retinoblastoma samples.

Middle Meningeal Artery Embolization for the Treatment of Chronic Subdural Hematomas-a German Nationwide Multi-center Study On 718 Embolizations.

Background: Embolization of the middle meningeal artery (EMMA) is a promising novel technique for the treatment of patients with chronic subdural hematomas (cSDH).

Methods: After a nationwide query in Germany, patients with cSDH, treated with EMMA were retrospectively analyzed. Patient and cSDH characteristics, procedural parameters, complications, and rates of treatment failure (TF; residual cSDH > 10 mm, cSDH progression or requirement of rescue surgery) were investigated.

Correlates of climate change distress: The difference to general distress.

Introduction: Climate change has significant consequences on mental health, which are summarized under concepts like eco-anxiety or climate change distress. However, these recently developed concepts still suffer from a lack of clarity.

Aim: The aim of this study is to improve the conceptual clarity of climate change distress through analysing its' correlations with various psychological and demographic factors.

Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.

Background: Approved spinal muscular atrophy therapies greatly improve clinical outcomes; however, substantial motor function deficits persist. Apitegromab, a fully human monoclonal antibody, selectively inhibits myostatin activation, improving muscle function. We aimed to assess the safety and efficacy of apitegromab in patients with nonambulatory type 2 or type 3 spinal muscular atrophy receiving nusinersen or risdiplam.

Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1-Linked Amyotrophic Lateral Sclerosis.

Objective: Tofersen is the first effective and approved therapy for superoxide dismutase 1 (SOD1)-associated amyotrophic lateral sclerosis (ALS [SOD1-ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospinal fluid (CSF) and serum seem to respond earlier than clinical parameters. This evidence prompted us to hypothesize that this novel treatment could provide an opportunity to identify additional biomarkers responsive to therapy in SOD1-ALS.

Acceptance, Drivers, and Barriers to Use of mHealth Apps to Improve Quality of Life in Female Patients Affected by Hypothyroidism: Cross-Sectional Study.

Background: Hypothyroidism is a common chronic disease that can substantially impair physical and mental well-being and is associated with lower quality of life, a trend that interventions delivered by mobile health (mHealth) apps could ameliorate.

Objective: The objective of this study was to evaluate the acceptance and its influencing predictors of mHealth interventions in female patients affected by hypothyroidism to improve their quality of life. The focus on female patients reflects the significantly higher prevalence of hypothyroidism in women and their underrepresentation in many prior studies on technology acceptance and mHealth use.

Placebo effects improve sickness symptoms and drug efficacy during systemic inflammation: a randomized controlled trial in human experimental endotoxemia.

Background: Systemic inflammation triggers a wide range of sickness symptoms, including bodily discomfort and affective symptoms, which are relevant to numerous health conditions. While extensive research in the placebo field demonstrates that positive expectations can improve symptoms, it remains unclear if interventions designed to augment positive treatment expectations can alleviate sickness symptoms in the context of immunomodulatory drug therapies.

Methods: In this randomized, controlled, fully balanced 2 × 2 factorial placebo design, N = 124 healthy volunteers received either active ibuprofen treatment (600 mg per os) or placebo, combined with either a positive or neutral labeling of the treatment by the physician.

First Application of a Novel Brain Template: Motor Training Improves Cortico-cerebellar Connectivity in Cerebellar Ataxia.

People with cerebellar degeneration show characteristic ataxic motor impairments. Despite cerebellar dysfunction, they can improve motor performance through sensorimotor training. Yet, how such training changes functional brain networks affected by cerebellar degeneration is unknown.

Supporting mental health of medical students: Needs and demands concerning an e-mental health application within medical education.

Background: Digital technologies are increasingly integrated into medical education and healthcare services. Studies have demonstrated the efficacy of e-mental health approaches, offering cost-effective, user-friendly, anonymous, and geographically flexible support.

Objective: This study aims to investigate the needs and demands of medical students regarding the design of an e-mental health application within the context of medical education to foster stress management and personal skills.

Decoding glioblastoma survival: unraveling the prognostic potential of olfactory function in a prospective observational study.

Introduction: Olfactory impairment is common in glioblastoma and has been associated with unfavorable overall survival. However, prior studies were limited by imbalances in key prognostic factors and the absence of longitudinal olfactory assessments to evaluate treatment-related neurotoxicity. The aim of the study is to determine whether olfactory function serves as an independent prognostic marker for survival, neurocognitive outcomes, and quality of life in glioblastoma.

Costly pain avoidance and its impact on the modulation and extinction of visceral pain-related fear.

Along the gut-brain axis, visceral pain demonstrably evokes emotional learning and memory processes shaping behavior in clinically relevant ways. Avoidance motivated by learned fear may constitute a major obstacle to treatment success in extinction-based interventions. However, the effects of avoidance on visceral pain-related fear extinction remain poorly understood.

Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.

Background And Objectives: Executive dysfunction is a core feature of frontotemporal dementia (FTD). While there has been extensive research into such impairments in sporadic FTD, there has been little research in the familial forms.

Methods: Seven hundred fifty-two individuals were recruited in total: 214 ; 205 and 86 mutation carriers, stratified into asymptomatic, prodromal, and fully symptomatic; and 247 mutation-negative controls.

Morning clock gene expression in young adults of early and late chronotypes.

Variations in circadian rhythm-related genes influence the individual chronotype. Here, we hypothesize that the peak of clock gene expression at 7 a.m.