Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.

Wake-up call for recovery: a paradigm shift to address the deep crisis in Israel's public mental health services in the shadow of October 7, 2023.

Background: The events of October 7, 2023, and the subsequent war have starkly exposed the shortcoming of Israel's public mental health system. This system, already strained by years of underfunding and the COVID-19 pandemic, was unprepared for the surge in mental health needs resulting from these traumatic events. This paper outlines the systemic failures and proposes a comprehensive overhaul reform towards an integrative community-based, recovery-oriented mental health service.

Glucagon like peptide-1 (GLP-1) agonists and cardiometabolic protection: historical development and future challenges.

Glucagon-like peptide-1 receptor agonists (GLP-1RAs) have revolutionized the treatment of cardiometabolic diseases, extending their therapeutic applications far beyond glycemic control in type 2 diabetes (T2D) and obesity. This editorial synthesizes key milestones, from the discovery of GLP-1 to recent clinical trials highlighting the pleiotropic effects of GLP-1RAs in addressing the interconnected spectrum of cardiometabolic conditions, with a focus on cardiovascular, renal, and hepatic benefits. In addition, as GLP-1RAs continue to reshape the management of cardiometabolic disease and global public health, we discuss future challenges to better elucidate their mechanisms of cardiometabolic protection and maximize their therapeutic potential.

Urban fruit bats give birth earlier in the season compared to rural fruit bats.

Background: Urbanization is rapidly altering our ecosystem. While most wild species refrain from entering urban habitats, some flourish in cities and adapt to the new opportunities these offer. Urban individuals of various species have been shown to differ in physiology, morphology, and behavior compared to their rural counterparts.

The association between gestational selective serotonin reuptake inhibitor (SSRI) treatment and newborn thyroid screen: a large-scale cohort study.

Background: The diagnosis of depression or anxiety treated by SSRIs has become relatively common in women of childbearing age. However, the impact of gestational SSRI treatment on newborn thyroid function is lacking. We explored the impact of gestational SSRI treatment on newborn thyroid function as measured by the National Newborn Screening (NBS) Program and identified contributory factors.

Factors Associated with Prolonged Mechanical Ventilation in Late Repair of Tetralogy of Fallot.

Research establishing factors associated with duration of mechanical ventilation after Tetralogy of Fallot repair, is mainly based on population presenting at early infancy. There are fewer reports regarding repair after infancy, during childhood and preadolescence. To compare two groups of late TOF repair based on post-operative invasive mechanical ventilation duration and explore associations with pre-operative clinical markers of severity of right ventricular outflow tract obstruction.

CARD domains mediate anti-phage defence in bacterial gasdermin systems.

Caspase recruitment domains (CARDs) and pyrin domains are important facilitators of inflammasome activity and pyroptosis. Following pathogen recognition by nucleotide binding-domain, leucine-rich, repeat-containing (NLR) proteins, CARDs recruit and activate caspases, which, in turn, activate gasdermin pore-forming proteins to induce pyroptotic cell death. Here we show that CARD domains are present in defence systems that protect bacteria against phage.

Bat genomes illuminate adaptations to viral tolerance and disease resistance.

Zoonoses are infectious diseases transmitted from animals to humans. Bats have been suggested to harbour more zoonotic viruses than any other mammalian order. Infections in bats are largely asymptomatic, indicating limited tissue-damaging inflammation and immunopathology.

A guidance to intelligent metamaterials and metamaterials intelligence.

The bidirectional interactions between metamaterials and artificial intelligence have recently attracted immense interest to motivate scientists to revisit respective communities, giving rise to the proliferation of intelligent metamaterials and metamaterials intelligence. Owning to the strong nonlinear fitting and generalization ability, artificial intelligence is poised to serve as a materials-savvy surrogate electromagnetic simulator and a high-speed computing nucleus that drives numerous self-driving metamaterial applications, such as invisibility cloak, imaging, detection, and wireless communication. In turn, metamaterials create a versatile electromagnetic manipulator for wave-based analogue computing to be complementary with conventional electronic computing.

The compositional behavior of the human T cell receptor repertoire in ovarian cancer compared to healthy donors.

The distinctive characteristics of an individual's T cell receptor repertoire are crucial in recognizing and responding to a diverse array of antigens, contributing to immune specificity and adaptability. The repertoire, famously vast due to a series of cellular mechanisms, can be quantified using repertoire sequencing. In this study, we sampled the repertoire of 85 women: ovarian cancer patients (OC) and healthy donors (HD), generating a dataset of T cell clones and their abundance.

Currently Available Radiology-Specific Reporting Guidelines.

The aim of this paper is to contextualize and review reporting guidelines available at the EQUATOR Network that are most relevant to radiology-specific investigations. Eight EQUATOR Network reporting guidelines for the clinical area of radiology, not including the subspecialized areas of imaging of the cardiovascular, neurologic, and oncologic diseases are reviewed and discussed. The reporting guidelines are for diagnostic and therapeutic clinical research.

Time persistence of the fMRI resting-state functional brain networks.

Time persistence is a fundamental property of many complex physical and biological systems; thus understanding the phenomenon in the brain is of high importance. Time persistence has been explored at the level of stand-alone neural time-series, but since the brain functions as an interconnected network, it is essential to examine time persistence at the network level. Changes in resting-state networks have been previously investigated using both dynamic (i.

Antithrombotic resumption after middle meningeal artery embolization or surgery for chronic subdural hematoma: a systematic review and meta-analysis.

Background: The periprocedural management of antithrombotic medications in patients with chronic subdural hematoma (cSDH) after middle meningeal artery embolization (MMAE) or surgical evacuation is uncertain.

Methods: A systematic review was conducted across Medline, Embase, and Web of Science databases. We pooled proportions and risk ratios (RRs) for the meta-analysis with the corresponding 95% CIs.

Development and validation of a novel risk-predicted model for early sepsis-associated acute kidney injury in critically ill patients: a retrospective cohort study.

Objectives: This study aimed to develop a prediction model for the detection of early sepsis-associated acute kidney injury (SA-AKI), which is defined as AKI diagnosed within 48 hours of a sepsis diagnosis.

Design: A retrospective study design was employed. It is not linked to a clinical trial.

The developmental and genetic basis of male genitalia evolution in Drosophilids.

Reproductive organs are among the most variable and rapidly evolving structures in the animal kingdom, probably due to sexual selection. In insects, the diverse morphology of male genitalia is often one of the few visible characteristics that can reliably distinguish closely related species, making it crucial for taxonomic classification. Consistent with this, males of the model organism Drosophila melanogaster and its closely related species display remarkable variations in genital morphology.

Clinical perspective on pluripotent stem cells derived cell therapies for the treatment of neurodegenerative diseases.

Self-renewal capacity and potential to differentiate into almost any cell type of the human body makes pluripotent stem cells a valuable starting material for manufacturing of clinical grade cell therapies. Neurodegenerative diseases are characterized by gradual loss of structure or function of neurons, often leading to neuronal death. This results in gradual decline of cognitive, motor, and physiological functions due to the degeneration of the central nervous systems.

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Background: Mitral valve prolapse (MVP) is a common cardiac valvular anomaly that can be caused by mutations in genes of various biological pathways. Individuals of three generations of a kindred presented with apparently dominant heredity of isolated MVP.

Methods: Clinical evaluation and echocardiography for all complying family members (n=13).

The role of fear and dopamine-striatal pathways in grooming.

Fear is a fundamental emotion that triggers rapid and automatic behavioral response. Fear is known to suppress reward-seeking behaviors, interrupt previous activities to prioritize defensive responses and lead to rapid switch to defensive reactions. Dopamine (DA) plays a complicated role in the choice and performance of actions and it has a potential interaction of innate actions with the presence of fear.

Outlier removal in cryo-EM via radial profiles.

The process of particle picking, a crucial step in cryo-electron microscopy (cryo-EM) image analysis, often encounters challenges due to outliers, leading to inaccuracies in downstream processing. In response to this challenge, this research introduces an additional automated step to reduce the number of outliers identified by the particle picker. The proposed method enhances both the accuracy and efficiency of particle picking, thereby reducing the overall running time and the necessity for expert intervention in the process.

A conserved chaperone protein is required for the formation of a non-canonical type VI secretion system spike tip complex.

Type VI secretion systems (T6SS) are dynamic protein nanomachines found in Gram-negative bacteria that deliver toxic effector proteins into target cells in a contact-dependent manner. Prior to secretion, many T6SS effector proteins require chaperones and/or accessory proteins for proper loading onto the structural components of the T6SS apparatus. However, despite their established importance, the precise molecular function of several T6SS accessory protein families remains unclear.

Swarms can be rational.

The emergence of collective order in swarms from local, myopic interactions of their individual members is of interest to biology, sociology, psychology, computer science, robotics, physics and economics. , whose members unknowingly work towards a common goal, are particularly perplexing: members sometimes take individual actions that maximize collective utility, at the expense of their own. This seems to contradict expectations of individual rationality.

Neurocognitive performance in obsessive-compulsive disorder before and after treatment with cognitive behavioral therapy.

Background: Cross-sectional studies have reported neurocognitive performance deficits in obsessive-compulsive disorder (OCD), particularly on tasks assessing response inhibition and proactive control over stimulus-driven behaviors (task control). However, it is not clear whether these deficits represent trait-like markers of OCD or are state-dependent.

Methods: This study examined performance on two neurocognitive tasks in OCD patients (N = 26) before and after cognitive behavioral therapy (CBT) and matched healthy controls (HCs, N = 19).

Mitigation of ischemia/reperfusion injury via selenium nanoparticles: Suppression of STAT1 to inhibit cardiomyocyte oxidative stress and inflammation.

Ischemia/reperfusion injury (I/RI) following myocardial infarction, a leading cause of global morbidity and mortality, is characterized by detrimental oxidative stress and inflammation. In response, we proposed an I/RI alleviation strategy using the intravenous injection of spherical selenium nanoparticles (SeNPs) synthesized by a template method. Single-cell sequencing revealed these proposed SeNPs exhibited exceptional antioxidant and anti-inflammatory properties, disrupting the STAT1-ROS cycle, therefore preserving mitochondrial respiration and inhibiting caspase-mediated cardiomyocyte apoptosis.