Equity in neuromuscular research: a 20-year analysis of race, ethnicity, sex, and age representation.

Objectives: We conducted a systematic analysis of studies on neuromuscular diseases registered on ClinicalTrials.gov over the last 20 years to assess disparities in study populations.

Methods: Data from interventional and observational neuromuscular disease studies initiated between January 1, 2004, and December 31, 2024, were retrieved from ClinicalTrials.

Telemedicine and remote monitoring in neuromuscular diseases: Challenges and opportunities.

Background: Telemedicine, the application of those information technologies to remotely provide health services either for synchronously catching or asynchronous monitoring patient medical data, has shown a growing and widespread application in several chronic diseases, and, especially during and after COVID-19 pandemics, also in neuromuscular diseases.

Objective: this review aims at providing an updated overview on the application of telemedicine and telemonitoring tools in neuromuscular diseases, in clinical practice, research and trials.

Methods: a literature search was conducted on PubMed using keywords regarding telemedicine applications and several neuromuscular diseases, including papers up to May 2024.

Obesity and inflammatory response in moderate-to-severe acute respiratory distress syndrome: a single center pilot study.

Background: In acute respiratory distress syndrome (ARDS) obesity is associated with lower mortality but the mechanism(s) have not been elucidated.

Methods: We aimed at assessing plasma biomarker levels interleukin-8 (IL-8), matrix metalloproteinase-7 (MMP-7), Toll-like receptor 2 (TLR-2), tumor necrosis factor-α (TNF-α) and procalcitonin (PCT) at baseline and 3 days later in 20 consecutive moderate-severe ARDS consecutively admitted to our Center.

Results: Our population includes 20 consecutive mechanically ventilated patients with moderate-to severe ARDS.

Neuromuscular and cardiac organoids and assembloids: Advanced platforms for drug testing.

The inherent technical difficulties, ethical/regulatory issues and costs of experimental studies in animal models is prompting investigators to replace as much as possible living organisms with in vitro physiological models named organoids and assembloids. Generated from induced pluripotent stem cells, these three-dimensional structures approximate the complexity of tissues and their interactions, enabling personalized disease modelling and drug testing. The integration of multiple components in assembloids further enhances their predictive value for multi-system interactions and toxicities.

Deep brain stimulation in progressive supranuclear palsy: a dead-end story? A narrative review.

Progressive supranuclear palsy (PSP) is a rare, debilitating neurodegenerative disorder that significantly impairs both motor and cognitive functions. Current pharmacological treatments offer only transient symptomatic relief, driving interest in the past in alternative therapeutic strategies such as deep brain stimulation. Deep brain stimulation (DBS), known for its success in treating motor symptoms of Parkinson's disease, has been explored as a possible symptomatic treatment for PSP, considering the pedunculopontine nucleus (PPN), involved in motor control and postural stability, as a promising target for deep brain stimulation in PSP.

Prokineticin-2 Is Highly Expressed in Colonic Mucosa of Early Parkinson's Disease Patients.

Background: Elevated levels of prokineticin-2 (PK2), regarded as a protein involved in modulating immune/inflammatory responses, have been detected in the substantia nigra, serum, and olfactory neurons of Parkinson's disease (PD) patients. Of note, emerging evidence suggests that gut alterations, including dysbiosis and enteric inflammation, play a role in PD via the gut-brain axis.

Objectives: Our goal was to investigate the expression of PK2 in colonic biopsies of PD patients.

Cardiac comorbidities in McArdle disease: case report and systematic review.

Introduction And Methods: Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a "pure myopathy," cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease.

Is Hypnotic Induction Necessary to Experience Hypnosis and Responsible for Changes in Brain Activity?

The relevance of formal hypnotic induction to the experience of trance and its neural correlates is not clear, in that hypnotizability, beliefs and expectation of hypnosis may play a major role. The aim of the study was assessing the EEG brain activity of participants with high (highs) or low hypnotizability scores (lows), aware of their hypnotizability level and informed that the session will include simple relaxation, formal hypnotic induction and neutral hypnosis. A total of 16 highs and 15 lows (according to the Stanford Hypnotic Susceptibility Scale, form A) were enrolled.

Pre-existing frontal lobe dysfunction signs as predictors of subsequent neurotoxicity in CAR T cell therapy: insights from a case series.

Background: Chimeric Antigen Receptor (CAR) T cell therapies are innovative treatments against hematological malignancies, with increasing therapeutic indications. Despite their great efficacy, these therapies are hampered by high rates of neurotoxicity (immune effector cell-associated neurotoxicity (ICANS)). In the past few years, several risk factors have been associated with ICANS and grouped together in the attempt to build validated models able to predict neurologic complications.

Modulation of the heartbeat evoked cortical potential by hypnotizability and hypnosis.

Hypnotizability is a psychophysiological trait measured by scales and associated with several differences, including interoceptive accuracy and the morpho-functional characteristics of interoception-related brain regions. The aim of the study was to assess whether the amplitude of the heartbeat evoked cortical potential (HEP), a correlate of interoceptive accuracy, differs in participants with low (lows) and high (highs) hypnotizability scores (assessed by the Stanford Hypnotic Susceptibility Scale, Form A) before and after the induction of hypnosis. ECG and EEG were monitored in 16 highs and 15 lows during an experimental session, including open eyes baseline (B), closed eyes relaxation (R), hypnotic induction (IND), neutral hypnosis (NH), and post session baseline (Post).

Distinct limbic connectivity in left and right benign mesial temporal lobe epilepsy: Evidence from a resting state functional MRI study.

Background: Functional connectivity (FC) studies showed that pharmaco-resistant mesial temporal lobe epilepsy (MTLE) affects not only the limbic system, but also several extra-limbic regions, including areas belonging to resting state networks. Less is known about FC in subjects with benign MTLE (i.e.

Is hypnotic assessment relevant to neurology?

Studies conducted in healthy subjects have clearly shown that different hypnotic susceptibility, which is measured by scales, is associated with different functional equivalence between imagery and perception/action (FE), cortical excitability, and information processing. Of note, physiological differences among individuals with high (highs), medium (mediums), and low hypnotizability scores (lows) have been observed in the ordinary state of consciousness, thus independently from the induction of the hypnotic state, and in the absence of specific suggestions. The potential role of hypnotic assessment and its relevance to neurological diseases have not been fully explored.

Frailties and critical issues in neuromuscular diseases highlighted by SARS-CoV-2 pandemic: how many patients are still "invisible"?

Almost 90% of neuromuscular diseases (NMDs) are classified as rare diseases, defined as conditions affecting less than 5 individuals in 10.000 (0.05%).

Fatigue as a common signature of inflammatory myopathies: clinical aspects and care.

Fatigue is a common symptom in idiopathic inflammatory myopathies (IIMs), which greatly affects activities of daily life. Fatigue is a complex phenomenon that covers a range of dimensions from biological to behavioural, the pathophysiology of which is still poorly understood. The aim of this review is to describe the different determinants of fatigue in IIMs, discuss their clinical implications and how to evaluate and manage the condition, which are all relevant issues for the treating physicians in their everyday practice.

Gemcitabine Plus Nab-Paclitaxel Induces PD-L1 mRNA Expression in Plasma-Derived Microvesicles in Pancreatic Cancer.

Pancreatic ductal adenocarcinoma (PDAC) is a non-immunogenic tumor poorly responsive to immune checkpoint inhibitors. This study investigates the effect of 5-fluorouracil (5-FU), irinotecan, and oxaliplatin (FOLFIRINOX), and gemcitabine plus nab-paclitaxel (GEMnPAC) regimens on PD-L1 mRNA expression in plasma-derived microvesicles (MVs) in 50 PDAC patients. Plasma was collected before starting chemotherapy and after 3 months of treatment.

A multiparametric approach to improve the prediction of response to immunotherapy in patients with metastatic NSCLC.

Background: It is still unclear how to combine biomarkers to identify patients who will truly benefit from anti-PD-1 agents in NSCLC. This study investigates exosomal mRNA expression of PD-L1 and IFN-γ, PD-L1 polymorphisms, tumor mutational load (TML) in circulating cell-free DNA (cfDNA) and radiomic features as possible predictive markers of response to nivolumab and pembrolizumab in metastatic NSCLC patients.

Methods: Patients were enrolled and blood (12 ml) was collected at baseline before receiving anti-PD-1 therapy.

CYP17A1 polymorphism c.-362T>C predicts clinical outcome in metastatic castration-resistance prostate cancer patients treated with abiraterone.

Background: Abiraterone became a standard hormonal therapy for patients with metastatic castration-resistance prostate cancer (mCRPC). However, patients may experience primary resistance to treatment. To date, few predictive biomarkers of efficacy have been identified.

Clinical pharmacology of monoclonal antibodies targeting PD-1 axis in urothelial cancers.

Chemotherapy is the reference treatment for patients with advanced urothelial carcinoma, both in the neo-adjuvant and adjuvant settings; however, the overall outcome remains poor in this patient population. In the last few years, the addition of immune checkpoint inhibitors into the therapeutic armamentarium has changed the therapeutic landscape of several tumor types, including urothelial carcinoma. Many different molecules have been introduced in the clinical use and several questions about immunotherapies are currently open and deserve a critical analysis.

Clinical pharmacology of monoclonal antibodies targeting anti-PD-1 axis in urothelial cancers.

Chemotherapy is the reference treatment for patients with advanced urothelial carcinoma, both in the neo-adjuvant and adjuvant settings; however, the overall outcome remains poor in this patient population. In the last few years, the addition of immune checkpoint inhibitors into the therapeutic armamentarium has changed the therapeutic landscape of several tumor types, including urothelial carcinoma. Many different molecules have been introduced on the market and several questions about immunotherapies are currently open and deserve a critical analysis.

Endothelial nitric oxide synthase c.-813C>T predicts for proteinuria in metastatic breast cancer patients treated with bevacizumab-based chemotherapy.

Purpose: To investigate the association between single nucleotide polymorphisms (SNPs) in endothelial nitric oxide synthase (eNOS) and interleukin-8 (IL-8) genes and risk of developing bevacizumab-related adverse events in metastatic breast cancer (mBC) patients.

Patients And Methods: mBC patients candidate to receive bevacizumab-based chemotherapy were enrolled in this pharmacogenetic study. eNOS c.

Overexpression of TK1 and CDK9 in plasma-derived exosomes is associated with clinical resistance to CDK4/6 inhibitors in metastatic breast cancer patients.

Purpose: Cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) improve progression-free survival (PFS) in patients with hormone receptor-positive (HR+) advanced breast cancer. However, a better knowledge of predictive biomarkers of response and resistance to CDK4/6i is needed. Therefore, the present article addresses the role of the mRNA expression of thymidine kinase 1 (TK1), CDK4, 6 and 9 in plasma-derived exosomes and their relevance in the pharmacologic activity of CDK4/6i.