Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.

Background: Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate of disease progression, and ethical considerations, particularly in neurodegenerative diseases. In this study, we present the retrospective clinical global impression (RCGI) severity and change (RCGI-S/C) scale on 27 patients with GM1 gangliosidosis, a post hoc clinician-rated outcome measure to evaluate natural history study participants as historical controls for comparisons with treated patients in a clinical trial.

Maintenance DNA methylation is required for induced regulatory T cell reparative function following viral pneumonia.

FOXP3+ natural regulatory T cells (nTregs) promote resolution of inflammation and repair of epithelial damage following viral pneumonia-induced lung injury, thus representing a cellular therapy for patients with acute respiratory distress syndrome (ARDS). Whether in vitro induced Tregs (iTregs), which can be rapidly generated in substantial numbers from conventional T cells, also promote lung recovery is unknown. nTregs require specific DNA methylation patterns maintained by the epigenetic regulator, ubiquitin-like with PHD and RING finger domains 1 (UHRF1).

[Social and Health Factors Related to Treatment Discontinuity in Chilean Adults with Chronic Diseases During the COVID-19 Pandemic].

Unlabelled: A collateral effect of the COVID-19 pandemic has been the discontinuity of treatments, a highly sensitive situation for chronic patients.

Aim: to describe the factors associated with discontinuing treatments in chronic patients over 18 years old residing in Chile during the COVID-19 pandemic.

Methods: A secondary analysis of the database of the MOVID-IMPACT-C survey, which corresponds to a cross-sectional study with national urban representativeness, was carried out in 2020.

A Case for Automated Segmentation of MRI Data in Milder Neurodegenerative Diseases.

Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more reproducible results. However, since these analysis pipelines were trained on or run based on atlases consisting of neurotypical controls, it is important to evaluate how accurate these methods are for neurodegenerative diseases.

Binaural Pulse Modulation (BPM) as an Adjunctive Treatment for Anxiety: A Pilot Study.

Background: Treating psychiatric illnesses or influencing mental states with neurofeedback is challenging, likely due to the limited spatial specificity of EEG and the complications arising from the inadequate signal-to-noise ratio reduction of single-trial EEG.

Objective: This pilot study aimed to investigate the feasibility of employing a binaural pulse mode-modulation (BPM) device to reduce anxiety by self-regulation. We desired to determine whether anxiety could be significantly reduced or regulated using BPM-type systems.

Complications in anterior cruciate ligament reconstruction Articular cartilage reconstruction: Review of concepts, techniques, complications, risk factors, and Bail out/salvage strategies.

Chondral lesions are difficult and challenging depending on their size, location, and chronicity. In cartilage reconstruction, our aim is to employ techniques to help save the joint, regenerate lost or diseased cartilage, and hopefully prevent or delay the progression of osteoarthritis and the need for arthroplasty. As patient and lesion characteristics differ from case to case, there is no single surgical strategy ideal to treat all chondral lesions.

Antiprotons and Elementary Particles over a Solar Cycle: Results from the Alpha Magnetic Spectrometer.

We present results over an 11-year Solar cycle of cosmic antiprotons based on 1.1×10^{6} events in the rigidity range from 1.00 to 41.

Thermal data from Málaga's historical centre: Surface and air temperature measurements captured via mobile station and thermal imaging.

This dataset contains air and surface temperature measurements taken twice daily at 11:00 and 23:00 GMT+2 from 24th June to 5th July 2024 (a total of 10 days) in the historical centre of Malaga, Spain. It includes detailed thermal readings from various street materials and the facades of historical buildings, offering insights into the thermal properties and responses of these elements at different times of day. This dataset provides valuable information on localized temperature variations within the historical centre, influenced by different materials and architectural styles.

CORONIS symposium 2023: Scientific and clinical frontiers in ocular surface innervation.

The 5th CORONIS Symposium, held during the 2023 Congress of the European Association for Vision and Eye Research (EVER), highlighted the growing importance of ocular surface innervation in eye surface disorders. This article summarises the insights and perspectives shared during the symposium, which focused on the clinical relevance of ocular surface innervation, as well as on the development of innovative diagnostic and therapeutic approaches for ocular surface pathologies linked to disturbed sensory innervation. Through robust interdisciplinary collaborations, these developments hold great potential to improve patient outcomes and quality of life.

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients.

Objective: GM1 gangliosidosis is a rare lysosomal storage disorder characterized by the accumulation of GM1 gangliosides in neuronal cells, resulting in severe neurodegeneration. Currently, limited data exists on the brain volumetric changes associated with this disease. This study focuses on the late-infantile and juvenile subtypes of type II GM1 gangliosidosis, aiming to quantify brain volumetric characteristics to track disease progression.

Evaluation of SNaPshot and Sanger sequencing for the detection of and mutations in a sample of Venezuelan patients with colorectal cancer.

Colorectal cancer (CRC) is the third most commonly occurring cancer in men and the second most commonly occurring cancer in women. The epidermal growth factor receptor (EGFR) is relevant in the development and progression of CRC, because it is part of multiple signaling pathways involved in processes of the cell cycle, their malfunction causes dysregulation and subsequently carcinogenesis. Consequently, therapies were developed with anti-EGFR monoclonal antibodies (MAbs) that improve the survival of patients with CRC.

Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis.

GM2 gangliosidosis is lysosomal storage disorder caused by deficiency of the heterodimeric enzyme β-hexosaminidase A. Tay-Sachs disease is caused by variants in encoding the α-subunit and Sandhoff disease is caused by variants in encoding the β-subunit. Due to shared clinical and biochemical findings, the two have been considered indistinguishable.

Incidence of fall-from-height injuries and predictive factors for severity.

Context: The injuries caused by falls-from-height (FFH) are a significant public health concern. FFH is one of the most common causes of polytrauma. The injuries persist to be significant adverse events and a challenge regarding injury severity assessment to identify patients at high risk upon admission.

Ileal Predominance in Crohn's Disease Is Associated With Increased Intestinal Surgery and Biological Therapy Use, With Lower Treatment Persistence.

Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.

Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.

Evolution takes multiple paths to evolvability when facing environmental change.

Life at all scales is surprisingly effective at exploiting new opportunities, as demonstrated by the rapid emergence of antimicrobial resistance and novel pathogens. How populations acquire this level of evolvability and the various ways it aids survival are major open questions with direct implications for human health. Here, we use digital evolution to show that changing environments facilitate the simultaneous evolution of high mutation rates and a distribution of mutational effects skewed toward beneficial phenotypes.

Catalyzing sustainable development: insights from the international workshop on STI policies and innovation systems in Central America.

This article examines the landscape of Science, Technology, and Innovation policies in Central America, focusing on Nicaragua, Guatemala, Honduras, and El Salvador. These nations face significant challenges in leveraging STI for sustainable development, including financial constraints and limited resources. Additionally, Central America struggles with systemic issues such as corruption, violence, and high levels of emigration, further complicating efforts to advance STI.

Innovative Dual Combination Cospray-Dried Rock Inhibitor/l-Carnitine Inhalable Dry Powder Aerosols.

This study introduces novel cospray-dried (Co-SD) formulations of simvastatin, a Nrf2 activator ROCK inhibitor, with l-carnitine as molecular mixtures in various molar ratios for targeted pulmonary inhalation aerosol delivery in pulmonary hypertension, optimized for excipient-free dry powder inhalers (DPIs). The two components were spray-dried at various molar ratios by using different starting feed solution concentrations and process parameters. In addition to comprehensive physicochemical characterization, in vitro aerosol dispersion performance as DPIs using two FDA-approved DPI devices with different shear stress properties, in vitro viability as a function of dose on 2D human pulmonary cellular monolayers and on 3D small airway epithelia human primary cultures at the air-liquid interface (ALI), and in vitro transepithelial electrical resistance (TEER) at the ALI were conducted.

Use of stool molecular panel in hospitalized patients with diarrhea. Experience in a tertiary care center.

Infectious diarrhea is a common health issue that affects a large number of individuals each year. It causes significant morbidity and mortality, greatly impacting healthcare system costs. Rapid detection of the causative organism and timely treatment alters the management and outcome of the condition.

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser).

We present the first documented case of PURA syndrome in Colombia. This rare neurological disease results from mutations in the PURA gene located on chromosome 5, leading to haploinsufficiency of the PUR-α protein. This protein is essential for early brain development and neuronal function.

"Competitive" Food and Beverage Laws and Obesity Among Diverse Youth in California High Schools.

Purpose: To investigate associations between the California "competitive" food and beverage (CF&B) laws and overweight/obesity (OV/OB) among high school youth by gender, school-neighborhood income, and race/ethnicity, and to examine racial/ethnic OV/OB disparities before and after CF&B policies.

Methods: Using an interrupted time series design paired with retrospective cross-sectional Fitnessgram data from 3,565,260 youth-level records on ninth-grade students in California public schools, we estimated gender, school-neighborhood income, and racial/ethnic OV/OB prevalence trends before (2002-2007) and after the CF&B policies were in effect (2008-2012).

Results: In the period before the CF&B policies, OV/OB prevalence increased annually among the majority of subgroups regardless of gender, school-neighborhood income and race/ethnicity.

Exploring psychosocial factors influencing sexually transmitted infection intention testing among medical students: a cross-sectional study in two universities.

Background: Despite the significant global burden of sexually transmitted infections (STI), detection rates are poor. Acceptance of these tests is influenced by several factors that have not been explored among Colombian medical students.

Objectives: The aim of this study was to describe the behaviors and psychosocial factors toward STI screening among medical students of two universities in Pereira, Colombia, between March and June 2020.

Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease.

GM1 gangliosidosis is an ultra-rare inherited neurodegenerative lysosomal storage disorder caused by biallelic mutations in the gene. GM1 is uniformly fatal and has no approved therapies, although clinical trials investigating gene therapy as a potential treatment for this condition are underway. Novel outcome measures or biomarkers demonstrating the longitudinal effects of GM1 and potential recovery due to therapeutic intervention are urgently needed to establish efficacy of potential therapeutics.