C19orf12 gene variants causing mitochondrial membrane protein-associated neurodegeneration (MPAN).

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurodegenerative disorder characterized by spastic paraplegia, parkinsonism and psychiatric and/or behavioral symptoms caused by variants in gene encoding chromosome-19 open reading frame-12 (C19orf12). We present here seven patients from six unrelated families with detailed clinical, radiological, and genetic investigations. Childhood-onset patients predominantly had a spastic ataxic phenotype with optic atrophy, while adult-onset patients were presented with cognitive, behavioral, and parkinsonian symptoms.

In-vitro and in-vivo assessment of biocompatibility and efficacy of ostrich eggshell membrane combined with platelet-rich plasma in Achilles tendon regeneration.

Tendon injuries present significant medical, social, and economic challenges globally. Despite advancements in tendon injury repair techniques, outcomes remain suboptimal due to inferior tissue quality and functionality. Tissue engineering offers a promising avenue for tendon regeneration, with biocompatible scaffolds playing a crucial role.

Serial biomarker measurements may be helpful to predict the successful application of high flow nasal cannula in COVID-19 pneumonia patients.

High flow nasal cannula (HFNC) can reduce the need for intubation in patients with coronavirus disease-19 (COVID-19) pneumonia induced acute hypoxemic respiratory failure (AHRF), but predictors of HFNC success could be characterized better. C-reactive protein (CRP) and D-dimer are associated with COVID-19 severity and progression. However, no one has evaluated the use of serial CRP and D-dimer ratios to predict HFNC success.

Contamination assessment and source identification of metals and metalloids in submicron road dust (PM) in Moscow Megacity.

The content of 39 metals and metalloids (MMs) in submicron road dust (PM fraction) was studied in the traffic zone, residential courtyards with parking lots, and on pedestrian roads in parks in Moscow. The geochemical profiles of PM vary slightly between different types of roads and courtyards but differ significantly from those in parks. In Moscow, compared to other cities worldwide, submicron road dust contains less As, Sb, Mo, Cr, Cd, Sn, Tl, Ca, Rb, La, Y, U, but more Cu, Zn, Co, Fe, Mn, Ti, Zr, Al, V.

Selenium: 48-year journey of global clinical trials.

Selenium, an essential trace mineral for health, has seen a rise in clinical trials over the past nearly 5 decades. Our aim here is to provide a comprehensive and concise overview of selenium clinical trials from 1976 to 2023. Overall, the evolution of selenium clinical trials over 48 years has advanced through phases of emergence, prosperity, and either stability or transition.

Humans rationally balance detailed and temporally abstract world models.

How do people model the world's dynamics to guide mental simulation and evaluate choices? One prominent approach, the Successor Representation (SR), takes advantage of temporal abstraction of future states: by aggregating trajectory predictions over multiple timesteps, the brain can avoid the costs of iterative, multi-step mental simulation. Human behavior broadly shows signatures of such temporal abstraction, but finer-grained characterization of individuals' strategies and their dynamic adjustment remains an open question. We developed a task to measure SR usage during dynamic, trial-by-trial learning.

Medical & Socioeconomic Risk Factors Associated with Lack of Neurodevelopmental Evaluation Following Neonatal Cardiac Surgery.

Neonates with congenital heart disease (CHD) who undergo cardiopulmonary bypass (CPB) are at high-risk for unfavorable neurodevelopmental (ND) outcomes and are recommended for ND evaluation (NDE); however, poor rates have been reported. We aimed to identify risk factors associated with lack of NDE. This single-center retrospective observational study included neonates < 30 days old who underwent CPB and survived to discharge between 2012 and 2018.

3D CT to 2D X-ray image registration for improved visualization of tibial vessels in endovascular procedures.

Purpose: During endovascular revascularization interventions for peripheral arterial disease, the standard modality of X-ray fluoroscopy (XRF) used for image guidance is limited in visualizing distal segments of infrapopliteal vessels. To enhance visualization of arteries, an image registration technique was developed to align pre-acquired computed tomography (CT) angiography images and to create fusion images highlighting arteries of interest.

Methods: X-ray image metadata capturing the position of the X-ray gantry initializes a multiscale iterative optimization process, which uses a local-variance masked normalized cross-correlation loss to rigidly align a digitally reconstructed radiograph (DRR) of the CT dataset with the target X-ray, using the edges of the fibula and tibia as the basis for alignment.

Network Abnormalities in Ischemic Stroke: A Meta-analysis of Resting-State Functional Connectivity.

Aberrant large-scale resting-state functional connectivity (rsFC) has been frequently documented in ischemic stroke. However, it remains unclear about the altered patterns of within- and across-network connectivity. The purpose of this meta-analysis was to identify the altered rsFC in patients with ischemic stroke relative to healthy controls, as well as to reveal longitudinal changes of network dysfunctions across acute, subacute, and chronic phases.

Data from the All of Us research program reinforces existence of activity inequality.

Large-scale and detailed analyses of activity in the United States (US) remain limited. In this work, we leveraged the comprehensive wearable, demographic, and survey data from the All of Us Research Program, the largest and most diverse population health study in the US to date, to apply and extend the previous global findings on activity inequality within the context of the US. We found that daily steps differed by sex at birth, age, body characteristics, geography, and built environment.

Successful resolution of refractory marginal ulcer with celiac artery stenting.

Marginal ulcers are a common complication following Roux-en-Y bypass surgeries with an approximate incidence of 4.6%. The pathophysiology is complex and risk factors include smoking, nonsteroidal anti-inflammatory drugs (NSAIDs) use, Helicobacter pylori infection, and a larger pouch size.

Historical redlining and clustering of present-day breast cancer factors.

Purpose: Historical redlining, a 1930s-era form of residential segregation and proxy of structural racism, has been associated with breast cancer risk, stage, and survival, but research is lacking on how known present-day breast cancer risk factors are related to historical redlining. We aimed to describe the clustering of present-day neighborhood-level breast cancer risk factors with historical redlining and evaluate geographic patterning across the US.

Methods: This ecologic study included US neighborhoods (census tracts) with Home Owners' Loan Corporation (HOLC) grades, defined as having a score in the Historic Redlining Score dataset; 2019 Population Level Analysis and Community EStimates (PLACES) data; and 2014-2016 Environmental Justice Index (EJI) data.

Research progress of non-coding RNA regulating the role of PANoptosis in diabetes mellitus and its complications.

Diabetes is a chronic metabolic disease that is endemic worldwide and is characterized by persistent hyperglycemia accompanied by multiple severe complications, including cardiovascular disease, kidney dysfunction, neuropathy, and retinopathy. The pathogenesis of diabetes mellitus and its complications is multifactorial, involving various molecular and cellular pathways. In recent years, research has indicated that mechanisms of cell death play a significant role in the advancement of diabetes and its complications.

Cyclin E1/CDK2 activation defines a key vulnerability to WEE1 kinase inhibition in gynecological cancers.

Upregulation of Cyclin E1 and subsequent activation of CDK2 accelerates cell cycle progression from G1 to S phase and is a common oncogenic driver in gynecological malignancies. WEE1 kinase counteracts the effects of Cyclin E1/CDK2 activation by regulating multiple cell cycle checkpoints. Here we characterized the relationship between Cyclin E1/CDK2 activation and sensitivity to the selective WEE1 inhibitor azenosertib.

Vitamin D status and its determinants in German elite athletes.

Purpose: This study investigated elite German athletes to (1) assess their serum 25(OH)D levels and the prevalence of insufficiency, (2) identify key factors influencing serum 25(OH)D levels, and (3) analyze the association between serum 25(OH)D levels and handgrip strength.

Methods: In this cross-sectional study, a total of 474 athletes (231 female), aged 13-39 years (mean 19.3 years), from ten Olympic disciplines were included.

Ciliary muscle traction during accommodation is able to induce optic nerve head deformation.

Objectives: To use finite element (FE) modeling and in vivo optical coherence tomography (OCT) imaging to explore the effect of ciliary muscle traction on optic nerve head (ONH) deformation during accommodation.

Methods: We developed a FE model to mimic the ciliary muscle traction during accommodation, and varied the stiffness of the sclera, choroid, Bruch's membrane (BM), prelaminar neural tissue and lamina cribrosa (LC) to assess their effects on accommodation-induced ONH strains. To validate the FE model, OCT images of the right eyes' ONHs from 20 subjects (25 ± 1.

Enhancing security and efficiency in Mobile Ad Hoc Networks using a hybrid deep learning model for flooding attack detection.

Mobile Ad Hoc Networks (MANETs) are increasingly replacing conventional communication systems due to their decentralized and dynamic nature. However, their wireless architecture makes them highly vulnerable to flooding attacks, which can disrupt communication, deplete energy resources, and degrade network performance. This study presents a novel hybrid deep learning approach integrating Convolutional Neural Networks (CNN) with Long Short-Term Memory (LSTM) and Gated Recurrent Unit (GRU) architectures to effectively detect and mitigate flooding attacks in MANETs.