Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.

Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration of the macula, the region of the retina responsible for high-acuity vision. Common disorders in this category include Stargardt disease, Best vitelliform macular dystrophy, and X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive central vision loss, photophobia, and difficulty with fine visual tasks.

Restoration of Genuine Sensation and Proprioception of Individual Fingers Following Transradial Amputation with Targeted Sensory Reinnervation as a Mechanoneural Interface.

: Tactile gnosis derives from the interplay between the hand's tactile input and the memory systems of the brain. It is the prerequisite for complex hand functions. Impaired sensation leads to profound disability.

Medical Digital Twin: A Review on Technical Principles and Clinical Applications.

The usage of digital twins (DTs) is growing across a wide range of businesses. The health sector is one area where DT use has recently increased. Ultimately, the concept of digital health twins holds the potential to enhance human existence by transforming disease prevention, health preservation, diagnosis, treatment, and management.

Prescription of Strong Opioids in Chronic Non-Cancer Pain in the Province of Valladolid (Spain).

Chronic non-cancer pain (CNCP) is one of the leading causes of disability. The use of strong opioids (SOs) in the management of CNCP is increasing, although evidence supporting their use remains limited. Primary care (PC) plays a key role in this context.

Associations of Voice Metrics with Postural Function in Parkinson's Disease.

Background: This study aimed to explore the potential associations between voice metrics of patients with PD and their motor symptoms.

Methods: Motor and vocal data including the Unified Parkinson's Disease Rating Scale part III (UPDRS-III), Harmonic-Noise Ratio (HNR), jitter, shimmer, and smoothed cepstral peak prominence (CPPS) were analyzed through exploratory correlations followed by univariate linear regression analyses. We employed these four voice metrics as independent variables and the total and sub-scores of the UPDRS-III as dependent variables.

Cross-Species Epitope Sequence Analysis for Discovery of Existing Antibodies Useful for Phospho-Specific Protein Detection in Model Species.

Signaling pathways play key roles in many important biological processes, such as cell division, differentiation, and migration. Phosphorylation site-specific antibodies specifically target proteins phosphorylated on a given tyrosine, threonine, or serine residue. The use of phospho-specific antibodies facilitates the analysis of signaling pathway regulation and activity.

Comprehensive Analysis of the Proteome of Wild-Type and 5Δ Cells in Response to Bisphenol A (BPA) Exposure.

Bisphenol A, an endocrine-disrupting compound, is widely used in the industrial production of plastic products. Despite increasing concerns about its harmful effects on human health, animals, and the environment, the use of BPA has been banned only in infant products, and its effects on cellular processes are not fully understood. To investigate the impact of BPA on eukaryotic cells, we analyzed the proteome changes of wild-type and -deleted strains exposed to different doses of BPA using sample multiplexing-based proteomics.

Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes.

Low-density lipoprotein cholesterol (LDL-C) is a well-established risk factor for cardiovascular disease, and it plays a causal role in the development of atherosclerosis. Genome-wide association studies (GWASs) have successfully identified hundreds of genetic variants associated with LDL-C. Most of these risk loci fall in non-coding regions of the genome, and it is unclear how these non-coding variants affect circulating lipid levels.

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons.

Background/objectives: Strabismus is the most common ocular disorder of childhood. Three rare, recurrent genetic duplications have been associated with both esotropia and exotropia, but the mechanisms by which they contribute to strabismus are unknown. This work aims to investigate the mechanisms of the smallest of the three, a 23 kb duplication on chromosome 4 (hg38|4:25,554,985-25,578,843).

Production of Amyloid-β in the Aβ-Protein-Precursor Proteolytic Pathway Is Discontinued or Severely Suppressed in Alzheimer's Disease-Affected Neurons: Contesting the 'Obvious'.

A notion of the continuous production of amyloid-β (Aβ) via the proteolysis of Aβ-protein-precursor (AβPP) in Alzheimer's disease (AD)-affected neurons constitutes both a cornerstone and an article of faith in the Alzheimer's research field. The present Perspective challenges this assumption. It analyses the relevant empirical data and reaches an unexpected conclusion, namely that in AD-afflicted neurons, the production of AβPP-derived Aβ is either discontinued or severely suppressed, a concept that, if proven, would fundamentally change our understanding of the disease.

Acral Melanoma: A Review of Its Pathogenesis, Progression, and Management.

Acral melanoma is a distinct subtype of cutaneous malignant melanoma that uniquely occurs on ultraviolet (UV)-shielded, glabrous skin of the palms, soles, and nail beds. While acral melanoma only accounts for 2-3% of all melanomas, it represents the most common subtype among darker-skinned, non-Caucasian individuals. Unlike other cutaneous melanomas, acral melanoma does not arise from UV radiation exposure and is accordingly associated with a relatively low tumor mutational burden.

Unraveling the Molecular Mechanisms of Mosquito Salivary Proteins: New Frontiers in Disease Transmission and Control.

Mosquito-borne diseases are a group of illnesses caused by pathogens transmitted by mosquitoes, and they are globally prevalent, particularly in tropical and subtropical regions. Pathogen transmission occurs during mosquito blood feeding, a process in which mosquito saliva plays a crucial role. Mosquito saliva contains a variety of biologically active proteins that facilitate blood feeding by preventing blood clotting, promoting vasodilation, and modulating the host's immune and inflammatory responses.

Urinary Proteome and Exosome Analysis Protocol for the Discovery of Respiratory Diseases Biomarkers.

This study aims to develop a protocol for respiratory disease-associated biomarker discovery by combining urine proteome studies with urinary exosome components analysis (i.e., miRNAs).

Proton Beam Therapy for Advanced Periocular Skin Cancer: An Eye-Sparing Approach.

The management of periocular skin malignancies presents a unique challenge. Proton beam therapy, due to its sharp dose fall-off, allows for the delivery of a tumoricidal dose to the tumor while sparing adjacent normal tissues. Thirteen patients with a median age of 76.

Deep Learning-Based Glioma Segmentation of 2D Intraoperative Ultrasound Images: A Multicenter Study Using the Brain Tumor Intraoperative Ultrasound Database (BraTioUS).

Intraoperative ultrasound (ioUS) provides real-time imaging during neurosurgical procedures, with advantages such as portability and cost-effectiveness. Accurate tumor segmentation has the potential to substantially enhance the interpretability of ioUS images; however, its implementation is limited by persistent challenges, including noise, artifacts, and anatomical variability. This study aims to develop a convolutional neural network (CNN) model for glioma segmentation in ioUS images via a multicenter dataset.

Prognostic Modeling of Overall Survival in Glioblastoma Using Radiomic Features Derived from Intraoperative Ultrasound: A Multi-Institutional Study.

Background: Accurate prognostic models are essential for optimizing treatment strategies for glioblastoma, the most aggressive primary brain tumor. While other neuroimaging modalities have demonstrated utility in predicting overall survival (OS), intraoperative ultrasound (iUS) remains underexplored for this purpose. This study aimed to evaluate the prognostic potential of iUS radiomics in glioblastoma patients in a multi-institutional cohort.

Unmasking Racial, Ethnic, and Socioeconomic Disparities in United States Chordoma Clinical Trials: Systematic Review.

Background: Chordoma is a rare bone cancer with limited treatment options. Clinical trials are crucial for developing effective therapies, but their success depends on including diverse patient populations. The objective of this study was to systematically evaluate the reporting of racial, ethnic, and socioeconomic diversity in United States clinical trials exploring treatment for chordoma.

Evaluating the Quality of Real-World Data on Adherence to Oral Endocrine Therapy in Breast Cancer Patients: How Real Is Real-World Data?

Purpose: The aim of this study was to compare estimates of adherence to oral endocrine therapy (OET) based on real-world data (RWD) and on clinical evaluation in people diagnosed with breast cancer in the public healthcare system in Catalonia (Spain).

Methods: We conducted two retrospective cohort studies. Cohort 1 (RWD) consisted of women diagnosed with breast cancer in 2021 in the public healthcare system of Catalonia (Spain).

The Effect of Prebiotics, Alone or as Part of Synbiotics, on Cardiometabolic Parameters in Women with Polycystic Ovary Syndrome: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

/: This systematic review and meta-analysis aimed to investigate the effect of prebiotics, alone or as part of synbiotics, on cardiometabolic parameters in polycystic ovary syndrome (PCOS) women. : Databases, including PubMed, Scopus, ISI Web of Science, Embase, and the Cochrane Central Register of Controlled Trials, were searched for relevant randomized-controlled trials (RCTs) until 12 December 2024. Changes in mean ± standard deviations were extracted and combined using a random-effects model.

Changes in Locomotor Activity Observed During Acute Nicotine Withdrawal Can Be Attenuated by Ghrelin and GHRP-6 in Rats.

Ghrelin and growth hormone-releasing peptide 6 (GHRP-6) are peptides which can stimulate GH release, acting through the same receptor. Ghrelin and its receptor have been involved in reward sensation and addiction induced by natural and artificial drugs, including nicotine. The present study aimed to investigate the impacts of ghrelin and GHRP-6 on the horizontal and vertical activity in rats exposed to chronic nicotine treatment followed by acute nicotine withdrawal.

Exploring in Ischemic Stroke and Moyamoya Disease: From Cellular Models to Clinical Insights.

Advances in stroke genetics have highlighted the critical role of rare genetic variants in cerebrovascular diseases, with emerging as a key player in ischemic stroke and Moyamoya disease (MMD). Initially identified as the primary susceptibility gene for MMD, -notably the p.R4810K variant-has been strongly linked to intracranial artery stenosis (ICAS) and various ischemic stroke subtypes, particularly in East Asian populations.

Improving brain health via the central executive network.

Cognitive and physical stress have significant effects on brain health, particularly through their influence on the central executive network (CEN). The CEN, which includes regions such as the dorsolateral prefrontal cortex, anterior cingulate cortex and inferior parietal lobe, is central to managing the demands of cognitively challenging motor tasks. Acute stress can temporarily reduce connectivity within the CEN, leading to impaired cognitive function and emotional states.

Surgery impairs glymphatic activity and cognitive function in aged mice.

Delirium is a common complication in elderly surgical patients and is associated with an increased risk of dementia. Although advanced age is a major risk factor, the mechanisms underlying postoperative delirium remain poorly understood. The glymphatic system, a brain-wide network of perivascular pathways, facilitates cerebrospinal fluid (CSF) flow and supports the clearance of metabolic waste.

Clinical and molecular characteristics and long-term outcomes of pediatric intracranial meningiomas: a comprehensive analysis from a single neurosurgical center.

Background: Meningioma represents the most common intracranial tumor in adults. However, it is rare in pediatric patients. We aimed to demonstrate the clinicopathological characteristics and long-term outcome of pediatric meningiomas (PMs).