SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.

Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.

Cannabis Use Cessation and the Risk of Psychotic Disorders: A Case-Control Analysis from the First Episode Case-Control EU-GEI WP2 Study: L'arrêt de l'utilisation du cannabis et le risque de troubles psychotiques: Une analyse cas-témoins tirée de l'étude cas-témoins EU-GEI WP2 centrée sur les premiers épisodes psychotiques.

Objectives: To establish whether the risk of psychotic disorders in cannabis users changes with time following cannabis cessation using data from the European Network of National Networks studying Gene-Environment Interactions in Schizophrenia (EU-GEI) case-control study.

Methods: The EU-GEI case-control study collected data from first episode psychosis patients and population controls across sites in Europe and Brazil between May 2010 and April 2015. Adjusted logistic regressions were applied to examine whether the odd of psychosis case status changed: (1) with time following cannabis cessation and (2) across different cannabis use groups.

O-substituted Tertiary Amine-chitosans as Promising Nanocarriers for siRNA Delivery.

Introduction: The clinical translation of chitosan-based formulations for siRNA delivery has been partially limited by their poor stability/solubility at physiological conditions, although they have good biocompatibility and cost-effectiveness.

Method: In this study, the chitosan was O-substituted with diisopropylethylamine (DIPEA) groups, which improved its solubility at pH 7.4 by increasing the degree of ionization and enhanced the ability of chitosan to load siRNA at very low amine/phosphate (N/P) ratios.

100 Years of Insulin: A Historical Perspective.

Background: Diabetes mellitus, a metabolic disease characterized by high blood glucose levels, has increased dramatically in recent years, prompting the need for more affordable diagnoses and treatments.

Objective: This study aimed to conduct a brief historical and theoretical review on the development of insulin.

Methods: Scientific and technological data have been retrieved and analyzed with a focus on the development of the active pharmaceutical ingredient insulin and insulin-based medicines.

Association between nursing workload and staff size with the occurrence of adverse events and deaths of patients with COVID-19: A retrospective cohort study.

Background: The safety of patients in the intensive care unit (ICU) is significantly impacted by inadequate staffing of nursing professionals to meet the demand for care of critically ill patients. COVID-19 patients increased nurses' workload, particularly in high-intensity care settings like the ICU.

Aim: To evaluate the association of workload and number of patients per nursing professional with the occurrence of adverse events and death in critically ill patients with COVID-19 in the ICU.

Toward a phylogenomic classification of magnoliids.

Premise: Magnoliids are a strongly supported clade of angiosperms. Previous phylogenetic studies based primarily on analyses of a limited number of mostly plastid markers have led to the current classification of magnoliids into four orders and 18 families. However, uncertainty remains regarding the placement of several families.

Cross-cultural adaptation and evidence of validity of the interprofessional collaboration scale (IPC-BR) for Brazil.

We aimed to perform cross-cultural adaptation of the Interprofessional Collaboration Scale (IPC-BR) and to evaluate evidence of its validity for the Brazilian hospital context. The research consisted of six steps: translation of the instrument into the new language, synthesis of the translated versions, back-translation, synthesis of the versions in the original language, evaluation of the syntheses by an expert committee, and pilot testing or pretesting and validation of the internal structure of the items of the instrument. The pilot testing involved 4 translators, 14 judges, and 30 healthcare professionals; the validation of the internal structure involved 686 professionals including nurses, physicians and physiotherapists.

The rise of weekly insulins: addressing the challenges of type 2 diabetes care in Brazil.

Background: Type 2 diabetes mellitus (T2D) is a global health concern with a rising prevalence, particularly in Brazil. Insulin therapy plays a crucial role in managing T2D, helping to maintain glucose and energy homeostasis. Moreover, early initiation of insulin is crucial for hyperglycemic control and prevention of chronic complications.

Multidisciplinary nursing care in chronic Chagas disease: a scoping review.

Background: Nurses provide essential care for symptomatic chronic Chagas disease carriers, caused by Trypanosoma cruzi, offering crucial support, symptom management, medication administration, and monitoring to enhance their health-related quality of life.

Objective: To increase healthcare professionals' awareness of the critical role played by high-quality care in the management of patients with chronic Chagas disease.

Methods: This scoping review employed the PRISMA-ScR method as a framework for article selection.

TRPV4 modulates inflammatory responses and apoptosis in enteric glial cells triggered by Clostridioides difficile toxins A and B.

Clostridioides difficile, a spore-forming anaerobic bacterium, is the primary cause of hospital antibiotic-associated diarrhea. Key virulence factors, toxins A (TcdA) and B (TcdB), significantly contribute to C. difficile infection (CDI).

Predictors of HIV testing adherence among men who have sex with men: a cross-sectional study.

Men who have sex with men are a target group for HIV prevention and control. HIV testing is part of a broader combination prevention strategy. This study aimed to analyze the predictors for adherence to HIV infection testing among Brazilian men who have sex with men.

Ankyloglossia and breastfeeding self-efficacy in newborns: a birth cohort study.

Background: The impact of ankyloglossia (tongue-tie) on breastfeeding outcomes may be overestimated and surgical treatment in newborns remains a controversial topic. The aim of the present study was to assess and quantify the impact of ankyloglossia in newborns on breastfeeding self-efficacy at 14 days of life.

Methods: A birth cohort study was conducted involving mothers and newborns soon after childbirth at a public hospital in the city of Canoas, southern Brazil.

Insights of cellular and molecular changes in sugarcane response to oxidative signaling.

Significant changes in the proteome highlight essential metabolic adaptations for development and oxidative signaling induced by the treatment of young sugarcane plants with hydrogen peroxide. These adaptations suggest that hydrogen peroxide acts not only as a stressor but primarily as a signaling molecule, triggering specific metabolic pathways that regulate growth and plant resilience. Sugarcane is a crucial crop for sugar and ethanol production, often influenced by environmental signals.

Ultrasonographic evaluation of optic nerve sheath diameter in patients severe traumatic brain injury: a comparison with intraparenchymal pressure monitoring.

Objective: Increased intracranial pressure (ICP) can worsen the clinical condition of traumatic brain injury (TBI) patients. One non-invasive and easily bedside-performed technique to estimate ICP is ultrasonographic measurement of optic nerve sheath diameter (ONSD). This study aimed to analyze ONSD and correlate it with ICP values obtained by intraparenchymal monitoring to establish the ONSD threshold value for elevated ICP and reference range of ONSD in severe TBI patients.

Oral Administration of [F]MC225 for Quantification of P-glycoprotein Function: A Feasibility Study.

Purpose: This preclinical study explored the feasibility of assessing P-glycoprotein (P-gp) function in both brain and gastrointestinal (GI) tract of rats using positron emission tomography (PET) following oral administration of [F]MC225. Different oral administration protocols were evaluated, and radioactivity uptake was compared with uptake following intravenous administration.

Procedures: Twelve male Wistar rats were divided into four groups and subjected to intravenous or oral [F]MC225 administration protocols: G (intravenous route), G (oral administration without fasting), G (oral administration with fasting), and G (oral administration with fasting following administration of the P-gp inhibitor tariquidar).

Zinc speciation promotes distinct effects on dinoflagellate growth and coral trypsin-like enzyme activity.

Zinc is an essential metal to living organisms, including corals and their symbiotic microalgae (Symbiodiniaceae). Both Zn(II) deprivation and overload are capable of leading to dysfunctional metabolism, coral bleaching, and even organism death. The present work investigated the effects of chemically defined Zn species (free Zn, ZnO nanoparticles, and the complexes Zn-histidinate and Zn-EDTA) over the growth of the dinoflagellates Symbiodinium microadriaticum, Breviolum minutum, and Effrenium voratum, and on the trypsin-like proteolytic activity of the hydrocoral Millepora alcicornis.

Cutoff points for handgrip strength in patients with liver cirrhosis: a multicenter study.

Objectives: This study aimed to define handgrip strength (HGS) cutoff points to predict 1-year mortality in adult patients with liver cirrhosis.

Methods: This is an analysis of cohort databases from four reference centers in Brazil. Inpatients or outpatients with cirrhosis and aged ≥18 years were included.

Cytokine expression of soft tissue cells cultured with titanium discs and their respective supernatants in vitro.

Objective: Titanium surface modifications improve osseointegration in dental and orthopedic implants. However, soft tissue cells can also reach the implant surface in immediate loading protocols. While previous research focused on osteogenic cells, the early response of soft tissue cells still needs to be better understood.

Neuroendoscopic surgery versus craniotomy for basal ganglia hemorrhage: a systematic review and meta-analysis of randomized controlled trials.

Basal ganglia hemorrhage (BGH) is a prevalent site for intracerebral hemorrhage. Although neuroendoscopy (NE) surgery has emerged as a less invasive alternative to craniotomy (CT), the optimal surgical method remains debatable. This systematic review and meta-analysis aimed to compare the efficacy and safety of NE versus CT in the management of BGH.

Workflow-driven catalytic modulation from single-atom catalysts to Au-alloy clusters on graphene.

Gold-based (Au) nanostructures are efficient catalysts for CO oxidation, hydrogen evolution (HER), and oxygen evolution (OER) reactions, but stabilizing them on graphene (Gr) is challenging due to weak affinity from delocalized [Formula: see text] carbon orbitals. This study investigates forming metal alloys to enhance stability and catalytic performance of Au-based nanocatalysts. Using ab initio density functional theory, we characterize [Formula: see text] sub-nanoclusters (M = Ni, Pd, Pt, Cu, and Ag) with atomicities [Formula: see text], both in gas-phase and supported on Gr.

Early life microbial succession in the gut follows common patterns in humans across the globe.

Characterizing the dynamics of microbial community succession in the infant gut microbiome is crucial for understanding child health and development, but no normative model currently exists. Here, we estimate child age using gut microbial taxonomic relative abundances from metagenomes, with high temporal resolution (±3 months) for the first 1.5 years of life.

Behavioral and Electrophysiological Assessment of Central Auditory Processing in Individuals with Sickle Cell Disease.

Introduction: Sickle cell anemia has a genetic origin characterized by an autosomal recessive inheritance pattern. The nervous system may be subject to vaso-occlusion and, consequently, affect the proper functioning of the central portion of hearing.

Objective: To assess central auditory skills and analyze short- and long-latency auditory evoked potentials in children with sickle cell disease.

Expert Opinion on Multiple Myeloma Treatment in Brazil in the Bispecific Antibody Era.

Multiple myeloma treatment has evolved rapidly with the development of novel targeted therapies. The paper outlines multiple myeloma epidemiology, current treatments, and recent advances, highlighting the role of bispecific antibodies. Brazilian authorities have approved 3 bispecific antibodies (teclistamab, elranatamab, and talquetamab) for relapsed/refractory multiple myeloma patients who have received at least three prior therapies.