A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.

Interrater reliability and agreement of the NEUMOBACT checklist about infection-prevention performance of intensive care nurses in simulation-based scenarios.

Objective: To analyse the interrater reliability of the NEUMOBACT checklist and verify whether consistent results are reproducible.

Methods: A validation study with a cross-sectional design, compliant with the GRRAS checklist, among ICU nurses attending a SIMULAZERO course with an Objective Structured Clinical Evaluation simulation format, to verify transfer from theory to clinical practice of knowledge and skills in ventilator-associated pneumonia (VAP) and catheter-related bacteraemia (CRB) prevention. A minimum sample size of 111 pairs of nurse raters was calculated.

Effect of hydrophobic proteins in modulating the mechanical properties of lung surfactant membranes.

Pulmonary surfactant is a membranous complex that enables breathing dynamics at the respiratory surface. Extremely low values of surface tension are achieved at end-expiration thanks to a unique mixture of lipids and proteins. In particular, the hydrophobic surfactant proteins, specially the protein SP-B, are crucial for surfactant biophysical function, in order to provide the surfactant lipid matrix with the ability to form membranous multi-layered interfacial films that sustain optimal mechanical properties.

Impact of the COVID-19 Pandemic on the Follow-up of Children and Adolescents With HIV Infection in Guatemala.

We conducted a retrospective study to assess the effect of the COVID-19 pandemic on children living with HIV in Guatemala. A reduction in physical consultations and laboratory tests was observed in prepandemic versus pandemic period. However, immunovirological status of the children showed no differences.

Resuscitation and Initial Management After Moderate-to-Severe Traumatic Brain Injury: Questions for the On-Call Shift.

Traumatic brain injury (TBI) is a leading cause of disability and mortality globally, stemming from both primary mechanical injuries and subsequent secondary responses. Effective early management of moderate-to-severe TBI is essential to prevent secondary damage and improve patient outcomes. This review provides a comprehensive guide for the resuscitation and stabilization of TBI patients, combining clinical experience with current evidence-based guidelines.

Triangulating the associations of different types of childhood adversity and first-episode psychosis with cortical thickness across brain regions.

Background: Both childhood adversity (CA) and first-episode psychosis (FEP) have been linked to alterations in cortical thickness (CT). The interactive effects between different types of CAs and FEP on CT remain understudied.

Methods: One-hundred sixteen individuals with FEP (mean age = 23.

Intestinal permeability biomarkers in patients with schizophrenia: Additional support for the impact of lifestyle habits.

Background: Emerging evidence suggests a potential association between "leaky gut syndrome" and low-grade systemic inflammation in individuals with psychiatric disorders, such as schizophrenia. Gut dysbiosis could increase intestinal permeability, allowing the passage of toxins and bacteria into the systemic circulation, subsequently triggering immune-reactive responses. This study delves into understanding the relationship between plasma markers of intestinal permeability and symptom severity in schizophrenia.

Loss of protects against MASLD alone or with alcohol intake by preserving lipid homeostasis.

Background & Aims: Expression of P21, encoded by the gene, has been associated with fibrosis progression in steatotic liver disease (SLD); however, the underlying mechanisms remain unknown. In the present study, we investigated the function of CDKN1A in SLD.

Methods: expression levels were evaluated in different patient cohorts with SLD, fibrosis, and advanced chronic liver disease (ACLD).

The revival of psilocybin between scientific excitement, evidence of efficacy, and real-world challenges.

The revival of psilocybin in psychopharmacological research heralds a potential paradigm shift for treating mood and anxiety disorders, and other psychiatric conditions beyond the psychotic spectrum. This critical review evaluates current evidence on psilocybin's efficacy, juxtaposing potential benefits with the practical aspects of psychedelic-assisted psychotherapy (PAP) and the methodological constraints of existing research.An electronic literature search was conducted using PubMed/MEDLINE, selecting studies published up to December 2023 that explored the clinical use of psilocybin in mood and anxiety disorders, obsessive-compulsive disorder, post-traumatic stress disorder, and substance use disorder.

Transcranial direct current stimulation (tDCS) enhances cognitive function in schizophrenia: A randomized double-blind sham-controlled trial.

This study aimed to examine the cognitive effects of tDCS and the subjective cognitive improvement perceived by patients with schizophrenia. A total of 173 outpatients diagnosed with schizophrenia were recruited for this double-blind, randomized, placebo-controlled trial. Two different stimulation modes were applied: 2 mA 20 minutes active tDCS and sham tDCS.

Differences in emotion recognition between nonimmersive versus immersive virtual reality: preliminary findings in schizophrenia and bipolar disorder.

Deficits in social cognition may impair emotional processing and facial emotional recognition (FER) in patients with bipolar disorder (BD) and schizophrenia. FER is generally explored using photographs or images of static faces that do not fully capture the complexity of real-life facial stimuli. To overcome this limitation, we developed a set of dynamic virtual faces depicting six basic emotions (i.

protein kinase inhibitors as Targeted therapy for glioblastoma: A meta-analysis of randomized controlled clinical trials.

Glioblastoma (GBM) is the most common and lethal primary brain tumor. The standard treatment for newly diagnosed GBM includes surgical resection, when feasible, followed by radiotherapy and temozolomide-based chemotherapy. Upon disease progression, the anti-vascular endothelial growth factor-A (VEGF-A) monoclonal antibody bevacizumab, can be considered.

Clinical Outcome Assessments for Spasticity: Review, Critique, and Recommendations.

Background: Spasticity is a common feature in patients with disruptions in corticospinal pathways. However, the term is used ambiguously. Here, spasticity is defined as enhanced velocity-dependent stretch reflexes and placed within the context of deforming spastic paresis encompassing other forms of muscle overactivity.

Dexamethasone is associated with reduced frequency and intensity of cytokine release syndrome compared with alternative corticosteroid regimens as premedication for glofitamab in patients with relapsed / refractory large B-cell lymphoma.

Not available.

Nivolumab plus Ipilimumab in Microsatellite-Instability-High Metastatic Colorectal Cancer.

Background: Patients with microsatellite-instability-high (MSI-H) or mismatch-repair-deficient (dMMR) metastatic colorectal cancer have poor outcomes with standard chemotherapy with or without targeted therapies. Nivolumab plus ipilimumab has shown clinical benefit in nonrandomized studies of MSI-H or dMMR metastatic colorectal cancer.

Methods: In this phase 3 open-label trial, we randomly assigned patients with unresectable or metastatic colorectal cancer and MSI-H or dMMR status according to local testing to receive, in a 2:2:1 ratio, nivolumab plus ipilimumab, nivolumab alone, or chemotherapy with or without targeted therapies.

Role of Avacopan on Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis.

Antineutrophil cytoplasmic antibody-associated (ANCA) vasculitis are a group of autoimmune diseases characterized by inflammation of the microvasculature, leading to life-threatening complications, including kidney disease. These diseases are associated with a high morbidity and mortality rate. Conventional treatment modalities have evolved towards personalized therapies intending to mitigate inflammation and minimize the adverse effects of traditional immunosuppressive agents.

Studying the interfacial activity and structure of pulmonary surfactant complexes.

Pulmonary surfactant (PS) is a membranous complex that coats the respiratory air-liquid interface in air-breathing animal lungs. Its main function is to minimize the surface tension at the end of expiration, what is needed for preventing alveolar collapse. Although the tension reduction capabilities of surfactant depend on the formation of air-exposed phospholipid-enriched monolayers, the interfacial surfactant films are far from simple monolayers.

Aerobic capacity and muscle proteome: Insights from a mouse model.

We explored the association between aerobic capacity (AC) and the skeletal muscle proteome of McArdle (n = 10) and wild-type (n = 8) mice, as models of intrinsically 'low' and 'normal' AC, respectively. AC was determined as total distance achieved in treadmill running until exhaustion. The quadriceps muscle proteome was studied using liquid chromatography with tandem mass spectrometry, with the Search Tool for the Retrieval of Interacting Genes/Proteins database used to generate protein-protein interaction (PPI) networks and enrichment analyses.

The saNeuroGut Initiative: Investigating the Gut Microbiome and Symptoms of Anxiety, Depression, and Posttraumatic Stress.

Introduction: Common mental disorders, such as anxiety disorders, depression, and posttraumatic stress disorder (PTSD), present a substantial health and economic burden. The gut microbiome has been associated with these psychiatric disorders via the microbiome-gut-brain axis. However, previous studies have focused on the associations between the gut microbiome and common mental disorders in European, North American, and Asian populations.

Assessment of the sentiments expressed by traumatic brain injury patients and caregivers: A qualitative study based on in-depth interviews.

Introduction: Traumatic Brain Injury (TBI) is a significant public health concern that causes death, disability, and economic burden. Its repercussions affect physical, cognitive, emotional, and behavioral aspects of long-term care needs. Despite improvements in communication among multidisciplinary teams, the management of TBI remains fragmented.

Cariprazine and Cognition in Patients with Schizophrenia and Bipolar Disorder: A Systematic Review.

Background: Cariprazine (CAR), an antipsychotic with partial agonism at the D3 receptor and higher affinity than dopamine, has shown significant procognitive effects in preclinical animal studies. This study systematically reviews CAR's effects on cognitive measures in patients with schizophrenia and bipolar disorder.

Methods: Two independent reviewers systematically searched PubMed, Web of Science, Scopus, and the Cochrane Library up to May 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines.