Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.

WHIM syndrome is typically caused by C-terminal gain-of-function variants in , yet clinical heterogeneity suggests additional genetic modifiers. We investigated a family in which the 22-year-old proband harbored two heterozygous variants: a novel missense variant, c.1022C>A (p.

Exocrine Pancreatic Insufficiency: Postoperative Complication Emerging Decades after Surgery?

Exocrine pancreatic insufficiency (EPI) arises from a deficiency in pancreatic enzymes, leading to malabsorption and varied symptoms such as gastrointestinal discomfort, weight loss and steatorrhea. Though EPI commonly follows chronic pancreatitis or pancreatic surgery, its delayed onset is rarely discussed. We report a unique case of EPI manifesting 29 years after pancreaticoduodenectomy.

Aberrant splicing exonizes C9orf72 repeat expansion in ALS/FTD.

A nucleotide repeat expansion (NRE) (GGGGCC) within the first annotated intron of the C9orf72 (C9) gene is a common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While previous studies have shown that C9 NRE produces several toxic dipeptide repeat (DPR) proteins, the mechanism by which an intronic RNA segment can access the cytoplasmic translation machinery remains unclear. By selectively capturing and sequencing NRE-containing RNAs (NRE-capture-seq) from patient-derived fibroblasts and neurons, we found that, in contrast to previous models, C9 NRE is retained as part of an extended exon 1 due to the usage of various downstream alternative 5' splice sites.

fNIRS reproducibility varies with data quality, analysis pipelines, and researcher experience.

As data analysis pipelines grow more complex in brain imaging research, understanding how methodological choices affect results is essential for ensuring reproducibility and transparency. This is especially relevant for functional Near-Infrared Spectroscopy (fNIRS), a rapidly growing technique for assessing brain function in naturalistic settings and across the lifespan, yet one that still lacks standardized analysis approaches. In the fNIRS Reproducibility Study Hub (FRESH) initiative, we asked 38 research teams worldwide to independently analyze the same two fNIRS datasets.

MOSRS: An engineering multi-objective optimization through Einsteinian concept.

Multi-objective optimization stands at the intersection of mathematics, engineering, and decision-making, and metaheuristics offer a promising avenue for tackling such challenges. The literature shows they are the best, and there is space for new algorithms to deliver Pareto Fronts (PFs) with more convergence and coverage at lower computational costs. This paper presents the Multi-objective Special Relativity Search (MOSRS) for the first time.

Incidence of kidney toxicity of non-steroidal anti-inflammatory drugs in critically ill patients.

Background: Analgesia is paramount to improving critically ill patients recovery and preventing complications, especially during the post-operative time. Nonsteroidal anti-inflammatory drugs (NSAIDs) provide cost-effective analgesia but also carry risks, including gastrointestinal bleeding and acute kidney injury (AKI). Their safety in this setting is poorly understood.

Navigating Food Choices in Unequal Realities: A Comparative Study Across São Paulo, Brazil.

The determinants of food choice represent a set of factors that influence dietary decisions, justifying this act from a multidisciplinary perspective. Understanding these determinants appears to be a promising approach for implementing effective public policies aimed at behavioral changes and the adoption of healthy habits. This study aims to analyze the influence of socioeconomic inequality on individuals' food choices.

Remote-Controlled Magnetic Stimulation of Cell-Based Bioengineered Tissues for In Situ Bone Regeneration.

The native cell microenvironment activates signaling pathways through mechanotransduction mechanisms, influencing cells' physiological and functional outcomes. Magnetic fields are explored to manipulate these environments, and magnetic nanoparticles (MNPs) are highlighted as nano-instructive agents capable of activating key signaling pathways, presenting exciting possibilities in tissue engineering. Still, the ability to precisely control the assembly and differentiation of stem cells within a dynamically responsive microenvironment, crucial for effective tissue regeneration, remains unexplored.

Voice symptoms, dysphagia risk, quality of life, and mental health in total laryngectomized patients: a self-perception study.

Objectives: To establish the sociodemographic profile, identify and relate the presence of voice symptoms, risk for dysphagia, and self-perceived emotional distress, and measure the quality of life of a group of total laryngectomized patients.

Method: This is a descriptive, quantitative, cross-sectional study. Subjects aged 18-years and older, of both sexes, who had undergone total laryngectomy.

CD36 as a marker of acute myeloid leukemia prognosis: A systematic review.

CD36 is a glycoprotein associated with resistance to chemotherapy and the recurrence of acute myeloid leukemia. This systematic review aims to evaluate the impact of CD36 on the prognosis of acute myeloid leukemia, a complex heterogeneous malignant hematopoietic disease. The Embase, Scopus, Web of Science, Cochrane Library and SciELO databases were searched until September 2023.

Frailty influences clinical outcomes in critical patients: a post hoc analysis of the PalMuSIC study.

Objective: Frailty is a multidimensional syndrome characterized by diminished physiological reserve, increasing the risk of adverse outcomes, particularly in intensive care unit patients. The Clinical Frailty Scale, ranging from 1 (nonfrail) to 9 (terminally ill), is widely used to quantify frailty. This post hoc analysis of the Palliative Multicenter Study in Intensive Care (PalMuSIC) assesses the impact of frailty and clinical severity on short- and long-term outcomes.

Risk factors for failure in short segment pedicle instrumentation in thoracolumbar fractures.

Introduction: The management of thoracolumbar fractures, particularly through short-segment posterior fixation (SSPF), remains a topic of ongoing debate in spine surgery.

Research Question: This study aimed to identify the factors influencing SSPF failure in traumatic thoracolumbar fractures' treatment, focusing on variables such as age, bone mineral density (BMD), fracture level, posterior ligamentous complex (PLC) injury, screw length, type of screw (monoaxial or polyaxial), instrumentation of the fractured vertebra and sagittal screw angle (SSA).

Material And Methods: A total of 66 patients were included, with 43 in the non-failure group (Group N) and 23 in the failure group (Group F).

The Role of Socioeconomic Determinants in Children's Health.

After many years of being portrayed as a major achievement of the health service, child health in Portugal has recently come under scrutiny after an increase in infant deaths. Commentators have pointed to unequal access to healthcare and poorly monitored pregnancies of migrant mothers as possible causes. In this context, we revisit the socioeconomic determinants of children's health, reflecting on how various factors such as parental income and education, immigration, ethnicity, and social policies exert their influence on child health.

Long-Range RFID Indoor Positioning System for an Autonomous Wheelchair.

A new Radio-Frequency Identification (RFID) indoor positioning system (IPS) has been developed to operate in environments where the Global Positioning System (GPS) is unavailable. Traditional RFID tracking systems, such as anti-theft systems in clothing stores, typically work within close proximity to exit doors. This paper presents a novel RFID IPS capable of locating and tracking passive RFID tags over a larger area with greater precision.

Monitoring water percolation in a laboratory compacted soil dam using time-lapse electrical resistivity tomography.

Compacted soil dams are critical structures for mining, water supply and power generation, particularly in tropical regions. Monitoring these dams is essential throughout their lifetime, as variations in reservoir water levels due to drought, rainfall or operational changes can significantly affect soil saturation and stability. This study developed a laboratory-scale geoelectrical monitoring system to investigate the dynamics of water percolation and variations in soil saturation in compacted soil dams.

Epigenetic regulation and beyond in grapevine-pathogen interactions: a biotechnological perspective.

As one of the most important crop plants worldwide, understanding the mechanisms underlying grapevine response to pathogen attacks is key to achieving a productive and sustainable viticulture. Recently, epigenetic regulation in plant immunity has gained significant traction in the scientific community, not only for its role in gene expression regulation but also for its heritability, giving it enormous biotechnological potential. Epigenetic marks have been shown to be dynamically modulated in key genomic regions upon infection, with some being maintained after such, being responsible for priming defense genes.

Plasma and urinary metabolomic signatures differentiate genetic and idiopathic Parkinson's disease.

Parkinson's disease (PD) is marked by alpha-synuclein accumulation and progressive dopaminergic neuron loss. Using Nuclear Magnetic Resonance (NMR)-based metabolomics, we uncovered metabolic disturbances in idiopathic PD (iPD) and PD linked to LRRK2, GBA1, and PRKN variants in a Brazilian ethnically diverse cohort, free of comorbidities, in comparison to healthy, age-matched controls. In plasma, significant PD-associated metabolites included histidine, acetate, acetoacetate, glutamine, glucose, lipids and lipoproteins, N-acetyl-glycoproteins, and sarcosine.

Optimizing recovery: the impact of training load in elite volleyball players.

This study aimed to analyze the relationships between training load metrics and various dimensions of recovery over the course of 105 days during the competitive season. This study included 14 elite male volleyball players who participated in 95 training sessions and 18 matches. The session rating of perceived exertion and inertial measurement units were utilized to measure internal and external training loads, respectively.

Thoracolumbar fractures: Factors predicting failure of percutaneous short- and long-segment posterior fixation.

Introduction: Thoracolumbar (TL) transition trauma is frequent and challenging. Although short- (SSPF) and long-segment posterior fixation (LSPF) are its mainstay treatment, little is known about their failure rates and reasons behind it.

Research Question: understand why TL instrumentations fail and what factors influence it.

Plastics reset in an adult Procellariform seabird species during the breeding season.

Plastic ingestion has been extensively studied in seabirds. However, knowledge gaps remain in understanding how plastic loads behave over time and their residence inside Procellariforms. This study investigated the temporal dynamics of ingested plastics by adult Cory's shearwaters (Calonectris borealis) during the breeding season to shed light on plastic retention times.

Spatiotemporal dynamics of fetal liver hematopoietic niches.

Embryonic hematopoietic cells develop in the fetal liver (FL), surrounded by diverse non-hematopoietic stromal cells. However, the spatial organization and cytokine production patterns of the stroma during FL development remain poorly understood. Here, we characterized and mapped the hematopoietic and stromal cell populations at early (E12.

Pericardial Cyst: An Uncommon Cause of Fever.

Pericardial cysts are a rare and benign entity that comprise 7% of the mediastinal masses. They are asymptomatic in over half of the cases, being usually detected as an incidental mass lesion on chest X-ray. When symptomatic, they usually present with dyspnea, chest pain, or persistent cough.