Transcriptomic analysis reinforces the implication of spatacsin in neuroinflammation and neurodevelopment.

Hereditary spastic paraplegia (HSP) encompasses a group of rare genetic diseases primarily affecting motor neurons. Among these, spastic paraplegia type 11 (SPG11) represents a complex form of HSP caused by deleterious variants in the SPG11 gene, which encodes the spatacsin protein. Previous studies have described several potential roles for spatacsin, including its involvement in lysosome and autophagy mechanisms, neuronal and neurites development or mitochondria function.

Atypical and worrisome histological features in pleomorphic adenoma: challenging and potentially significant diagnostic pitfall.

Pleomorphic adenoma (PA), the most prevalent salivary gland tumor, exhibits a diverse histological spectrum characterized by epithelial, myoepithelial, and mesenchymal patterns, and secretory products. However, a subset of PAs presents microscopic features suggestive of malignancy, leading to challenging and potentially significant diagnostic pitfalls. A comprehensive retrospective analysis was conducted on the Salivary Gland Tumor Registry, compiled by the authors.

Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

Molecular and Immunohistochemical Classification of Extrapulmonary Small Cell Neuroendocrine Carcinomas: A Study of 181 Cases.

Extrapulmonary small cell neuroendocrine carcinoma (EP-SCNC) is a rare malignancy with a poor prognosis. Most patients with EP-SCNC have metastatic disease upon presentation, and their average overall survival (OS) is less than 12 months. Our study aimed to conduct a complex analysis of EP-SCNC.

Clinical significance of a new diagnosis of atrial fibrillation in patients with vascular disease.

Background: The Cardiovascular Outcomes for People Using Anticoagulation Strategies (COMPASS) trial enrolled patients with vascular disease, but excluded patients requiring oral anticoagulation.

Objective: To explore the clinical significance of a new diagnosis of atrial fibrillation (AF) during follow-up.

Methods: New AF was identified from hospitalization, study drug discontinuation and adverse event reports.

An expanded phylogenomic analysis of Heterolobosea reveals the deep relationships, non-canonical genetic codes, and cryptic flagellate stages in the group.

The phylum Heterolobosea Page and Blanton, 1985 is a group of eukaryotes that contains heterotrophic flagellates, amoebae, and amoeboflagellates, including the infamous brain-eating amoeba Naegleria fowleri. In this study, we investigate the deep evolutionary history of Heterolobosea by generating and analyzing transcriptome data from 16 diverse isolates and combine this with previously published data in a comprehensive phylogenomic analysis. This dataset has representation of all but one of the major lineages classified here as orders.

Hemiparasitic plants facilitate ecological restoration of encroached European grasslands.

Species-rich grasslands of temperate Europe are threatened by the spread and increasing dominance of the rhizomatous grass Calamagrostis epigejos. Native hemiparasitic Rhinanthus species have been proposed as biocontrol to suppress C. epigejos, but experimental evidence is limited.

Protocol for 3D photogrammetry and morphological digitization of complex skulls.

Here, we present a protocol for 3D photogrammetry and morphological digitization of skulls, including complex ones with tusks, antlers, and horns, which are challenging to reconstruct digitally. We describe steps for setting up specimens for image acquisition, including camera and lighting configurations, and the subsequent image processing to generate high-quality 3D models. We also outline the extraction of morphological data for accurate geometric morphometric analyses.

State-of-the-Art Liver Cancer Organoids: Modeling Cancer Stem Cell Heterogeneity for Personalized Treatment.

Liver cancer poses a global health challenge with limited therapeutic options. Notably, the limited success of current therapies in patients with primary liver cancers (PLCs) may be attributed to the high heterogeneity of both hepatocellular carcinoma (HCCs) and intrahepatic cholangiocarcinoma (iCCAs). This heterogeneity evolves over time as tumor-initiating stem cells, or cancer stem cells (CSCs), undergo (epi)genetic alterations or encounter microenvironmental changes within the tumor microenvironment.

The global prevalence of interstitial lung disease in patients with rheumatoid arthritis: a systematic review and meta-analysis.

This study aims to review the literature and estimate the global pooled prevalence of interstitial lung disease among patients with rheumatoid arthritis (RA-ILD). The influence of risk factors like geography, socioeconomic status, smoking and DMARD use will be explored. A systematic review was performed according to the PRISMA and JBI guidelines.

Footrot in sheep and goats: a case study.

This observational study highlights the apparent lower severity of footrot in goats compared with sheep, the risk of false negative results from elastase tests, the need to clean contractors' equipment between properties and indicates the potential use of kidding (or lambing) time and individual mob biosecurity in managing footrot.

Study of Children Aged Under 2 Years Admitted With RSV at Four Australian Hospitals [2021-2022].

Aims: Primary aim was to review severe acute respiratory infections (SARI) hospitalisations caused by respiratory syncytial virus (RSV) in children aged < 2 years in paediatric hospitals in Australia. Secondary aims included RSV subtyping, assessing RSV seasonality and contributing to the World Health Organisation's RSV surveillance programme.

Methods: We prospectively reviewed the medical records of children (< 2 years of age) with a confirmed SARI who were admitted to one of four major Australian paediatric hospitals and had a respiratory sample analysed by Polymerase Chain Reaction (PCR).

Abdominal wound dehiscence after appendectomy during pregnancy treated by negative pressure wound therapy with subsequent vaginal delivery: A case report and literature review.

Negative pressure wound therapy (NPWT) is a very effective method in the treatment of dehiscent, infected, and non-healing wounds. Difficult wound healing occurs especially in late pregnancy due to the rapid enlargement of the uterus and the constantly increasing tension of the entire abdominal wall. In cases of dehiscence of the surgical wound during pregnancy, proper subsequent treatment is needed, where it is necessary to consider the safety of the mother as well as the fetus.

Management Measures and Trends of Biological Invasions in Europe: A Survey-Based Assessment of Local Managers.

Biological invasions are a major threat to biodiversity, ecosystem functioning and nature's contributions to people worldwide. However, the effectiveness of invasive alien species (IAS) management measures and the progress toward achieving biodiversity targets remain uncertain due to limited and nonuniform data availability. Management success is usually assessed at a local level and documented in technical reports, often written in languages other than English, which makes such data notoriously difficult to collect at large geographic scales.

Implementation of a Laboratory Information Management System (LIMS) for microbiology in Timor-Leste: challenges, mitigation strategies, and end-user experiences.

Background: Effective diagnostic capacity is crucial for clinical decision-making, with up to 70% of decisions in high-resource settings based on laboratory test results. However, in low- and middle-income countries (LMIC) access to diagnostic services is often limited due to the absence of Laboratory Information Management Systems (LIMS). LIMS streamline laboratory operations by automating sample handling, analysis, and reporting, leading to improved quality and faster results.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Understanding the Mechanism of Electrochemical CO Capture by Supercapacitive Swing Adsorption.

Carbon dioxide capture underpins an important range of technologies that can help to mitigate climate change. Improved carbon capture technologies that are driven by electrochemistry are under active development, and it was recently found that supercapacitor energy storage devices can reversibly capture and release carbon dioxide. So-called supercapacitive swing adsorption (SSA) has several advantages over traditional carbon dioxide capture technologies such as lower energy consumption and the use of nontoxic materials.

Infantry training outcomes: are they improved with an initial reduction in load carriage mass and additional sprint intensity exercise?

Introduction: Infantry is a physically demanding trade that is associated with elevated rates of musculoskeletal injury. A 17-week longitudinal intervention assessed the effect of a progressive increase in load carriage mass and sprint-intensity intervals on physical performance, physical complaints, medical encounters, physical activity and sleep in infantry trainees.

Methods: 91 infantry trainees from 2 separate platoons, randomly assigned as control (CON) or experimental (EXP), provided written voluntary consent.

Tissue factor-bearing extracellular vesicles, procoagulant phospholipids and D-dimer as potential biomarkers for venous thromboembolism in patients with newly diagnosed multiple myeloma: A comprehensive analysis.

Background: Candidate biomarkers to improve venous thromboembolism (VTE) risk prediction in patients with newly diagnosed multiple myeloma (MM) undergoing anti-myeloma therapy include tissue factor-bearing microvesicles (MV-TF), procoagulant phospholipids (procoag-PPL), and D-dimer.

Objective: We aimed to determine the levels of MV-TF, procoag-PPL, and D-dimer at baseline and during initial anti-myeloma therapy and their association with the risk of VTE.

Methods: This prospective, longitudinal, observational study included 71 patients with newly diagnosed MM who were eligible for anti-myeloma therapy.

Characteristics of patients diagnosed with psychogenic non-epileptic seizures (PNES) who request reinstatement of their driving privileges.

Rationale: Patients who experience seizures, including PNES, are usually advised to discontinue driving, or have their driving privileges revoked until a determined period of seizure-freedom is achieved. In this retrospective study, patients with PNES who requested driving privileges or reported having resumed driving were compared to those who did not on measures of depression, anxiety, PTSD, and cognitive flexibility/motor speed.

Methods: DiagnosisofPNESwasconfirmedwithvideo-EEG.

Reliability and validity of the unhelpful thoughts and beliefs scale for Persian-speaking adults who stutter (UTBAS-P): A cross-cultural examination of social anxiety in people who stutter.

Background And Aim: An increasing body of research indicates that many adults who stutter (AWS) experience anxiety in social and verbal situations. The Unhelpful Thoughts and Beliefs about Stuttering (UTBAS) scales were developed to assess speech-related anxiety and negative cognitions associated with stuttering. This study aimed to translate the UTBAS into Persian, investigate its psychometric properties for Persian-speaking AWS, and compare the results with previously published UTBAS scores across various cultures.

The Coexistence of Carotico-Clinoid Foramen and Interclinoidal Osseous Bridge: An Anatomo-Radiological Study With Surgical Implications.

Background And Objectives: The coexistence of complete carotico-clinoid bridge (CCB), an ossification between the anterior (ACP) and the middle clinoid (MCP), and an interclinoidal osseous bridge (ICB), between the ACP and the posterior clinoid (PCP), represents an uncommonly reported anatomic variant. If not adequately recognized, osseous bridges may complicate open or endoscopic surgery, along with the pneumatization of the ACP, especially when performing anterior or middle clinoidectomies.

Methods: According to Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews guidelines, a systematic scoping review was conducted up to June 5, 2023.

Biomarkers of RV Dysfunction in HFrEF Identified by Direct Tissue Proteomics: Extracellular Proteins Fibromodulin and Fibulin-5.

Background: Right ventricular dysfunction (RVD) is common in patients with heart failure with reduced ejection fraction, and it is associated with poor prognosis. However, no biomarker reflecting RVD is available for routine clinical use.

Methods: Proteomic analysis of myocardium from the left ventricle and right ventricle (RV) of patients with heart failure with reduced ejection fraction with (n=10) and without RVD (n=10) who underwent heart transplantation was performed.