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.

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.

Design and comprehensive characterization of dry powder inhalation aerosols of simvastatin DPPC/DPPG lung surfactant-mimic nanoparticles/microparticles for pulmonary nanomedicine.

The Rho Kinase (ROCK) pathway is recognized to be involved in changes that lead to remodeling in pulmonary hypertension (PH), particularly cellular processes including signaling, contraction, migration, proliferation, differentiation, and apoptosis. Simvastatin (Sim) has a potent anti-proliferative and pro-apoptotic effect on vasculature smooth muscle cells through the inhibition of the synthesis of isoprenoids intermediates which are essential for the post-translational isoprenylation of Rho, Rac, and Ras family GTPases. Sim targets the underlying mechanism in vascular remodeling.

Principles and challenges of whole cell microbial biosensors in the food industry.

Whole cell microbial biosensors (WCMB) are mostly genetically modified microorganisms used to detect target molecules as indicators of biological and chemical contaminants as well as in the identification of compounds of interest in the food industry. The specificity and sensitivity of these biosensors are achieved through the design of genetic circuits that make use of genetic sequences such as promoters, terminators, genes encoding regulatory proteins or reporter proteins, among others. Despite the advances of WCMBs for their application, significant challenges are faced, such as cell stability, regulatory restrictions, and the need to optimize response times so that they can be a competitive detection tool in the market.

Two sides of the same coin? Transient hybridization in refugia and rapid postglacial ecological divergence ensure the evolutionary persistence of sister Nothofagus.

Glacial periods have been considered as inhospitable environments that consist of treeless vegetation at higher latitudes. The fossil record suggests many species survived the Last Glacial Maximum within refugia, usually at lower latitudes. However, phylogeographic studies have given support to the existence of previously unknown high-latitude refugia that were not detected in the fossil record.

Telemedicine in HIV health care during the COVID-19 pandemic: An implementation research study in Buenos Aires, Argentina.

Background: From October 2020 to October 2022, we conducted an implementation study to offer telemedicine (TM) across four HIV units of general public hospitals in Buenos Aires. The intervention used TM to provide a continuum of care to patients with HIV.

Methods And Setting: We used the RE-AIM framework to evaluate the strategy.

Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia.

Introduction: The increase in the number of patients with hemoglobinopathies in Europe in recent decades highlights the need for more detailed epidemiological information in Spain. To fulfil this need, the Spanish Society of Pediatric Hematology and Oncology (SEHOP) sponsored the creation of a national registry of hemoglobinopathies known as REHem-AR (Spanish Registry of Hemoglobinopathies and Rare Anemias). Data from the transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) β-thalassemia cohorts are described and analyzed.

Ensuring Stakeholder Feedback in the Design and Conduct of Clinical Trials for Rare Diseases: ISCTM Position Paper of the Orphan Disease Working Group.

The 1983 Orphan Drug Act in the United States (US) changed the landscape for development of therapeutics for rare or orphan diseases, which collectively affect approximately 300 million people worldwide, half of whom are children. The act has undoubtedly accelerated drug development for orphan diseases, with over 6,400 orphan drug applications submitted to the US Food and Drug Administration (FDA) from 1983 to 2023, including 350 drugs approved for over 420 indications. Drug development in this population is a global and collaborative endeavor.

Uterine histopathology and steroid metabolism in a polycystic ovary syndrome rat model.

The aim of this study was to investigate uterine lesions, uterine endocrine status and expression of genes involved in uterine differentiation in a rat model of polycystic ovary syndrome (PCOS). The possible involvement of the androgen receptor (AR) was also investigated. PCOS rats showed an increased incidence of uterine epithelial and glandular lesions and elevated serum testosterone level, which was not detected in uterine tissue.

Characterization of Dengue Virus 4 Cases in Paraguay, 2019-2020.

In 2019-2020, dengue virus (DENV) type 4 emerged to cause the largest DENV outbreak in Paraguay's history. This study sought to characterize dengue relative to other acute illness cases and use phylogenetic analysis to understand the outbreak's origin. Individuals with an acute illness (≤7 days) were enrolled and tested for DENV nonstructural protein 1 (NS1) and viral RNA by real-time RT-PCR.

Temporal Patterns in Fruit and Vegetable Intake Among Racially and Ethnically Diverse Children and Adolescents in California.

Introduction: Childhood dietary behaviors, including fruit and vegetable intake, are associated with adult health. Most children do not meet daily recommended servings of fruits and vegetables. Less is known about temporal patterns in fruit and vegetable consumption or if they vary by race and ethnicity.

Fibrin-targeted phase shift microbubbles for the treatment of microvascular obstruction.

Microvascular obstruction (MVO) following percutaneous coronary intervention (PCI) is a common problem associated with adverse clinical outcomes. We are developing a novel treatment, termed sonoreperfusion (SRP), to restore microvascular patency. This entails using ultrasound-targeted microbubble cavitation (UTMC) of intravenously administered gas-filled lipid microbubbles (MBs) to dissolve obstructive microthrombi in the microvasculature.

"Competitive" food and beverage policies and weight status: A systematic review of the evidence among sociodemographic subgroups.

Prior studies identified variable associations between competitive food and beverage policies (CF&B) and youth obesity, potentially due to differences across population subgroups. This review summarizes the evidence on associations between CF&B policies and childhood obesity within gender, grade level/ age, race/ethnicity, and/or socioeconomic levels. PubMed, EMBASE, CINAHL, and ERIC database searches identified studies published in English in Canada and the United States between January 1, 2000, and February 28, 2022.