Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction.

CLN8 and other neuronal ceroid lipofuscinoses (NCLs) often lead to cognitive decline, emotional disturbances, and social deficits, worsening with disease progression. Disrupted lysosomal pH, impaired autophagy, and defective dendritic arborization contribute to these symptoms. Using a zebrafish model, we identified significant impairments in locomotion, anxiety, and aggression, along with subtle deficits in social interactions, positioning zebrafish as a useful model for therapeutic studies in NCL.

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses.

Glucose is the brain's main fuel source, used in both energy and molecular production. Impaired glucose metabolism is associated with adult and pediatric neurodegenerative diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), GLUT1 deficiency syndrome, and progressive myoclonus epilepsies (PMEs). PMEs, a group of neurological disorders typical of childhood and adolescence, account for 1% of all epileptic diseases in this population worldwide.

Mitochondrial Biomarkers in the Omics Era: A Clinical-Pathophysiological Perspective.

Mitochondrial diseases (MDs) affect 4300 individuals, with different ages of presentation and manifestation in any organ. How defects in mitochondria can cause such a diverse range of human diseases remains poorly understood. In recent years, several published research articles regarding the metabolic and protein profiles of these neurogenetic disorders have helped shed light on the pathogenetic mechanisms.

Nutrient dynamics in wetland systems associated with hydrological and anthropogenic variations in the south of Samborombón Bay, Argentina.

Wetlands provide numerous ecosystem services to the environment, such as nutrient removal and storage. The aim of this work is to evaluate the nutrient dynamics in different sectors within wetland systems in the south of the Samborombón Bay (Argentina) based on hydrological and/or anthropogenic variations. For this purpose, the hydrological features of the wetland were defined through the analysis of satellite images, precipitation and tidal data, and field surveys.

Hydrochemistry and trace metals in water and sediments in forest coastal wetlands influenced by tidal regime in the middle Río de la Plata estuary, Argentina.

Coastal wetland ecosystems are of utmost importance in regulating the mobility and distribution of elements in water and sediments, being the flooding by tidal events a recurrent process that strongly controls the hydrodynamics of the system. The aim of this work is to assess the control of the tidal regime and anthropogenic influence on the dynamics of some trace metals in water and sediments in the Punta Lara Natural Reserve situated in the Río de la Plata littoral. For that purpose, relationship between tidal flows, surface water and groundwater was evaluated.

Camera trap surveys of Atlantic Forest mammals: A data set for analyses considering imperfect detection (2004-2020).

Camera traps became the main observational method of a myriad of species over large areas. Data sets from camera traps can be used to describe the patterns and monitor the occupancy, abundance, and richness of wildlife, essential information for conservation in times of rapid climate and land-cover changes. Habitat loss and poaching are responsible for historical population losses of mammals in the Atlantic Forest biodiversity hotspot, especially for medium to large-sized species.

Splenic Subcapsular Hematoma from Commercial Air Travel: Case Report of a Unique Incident of Altitude-Associated Splenic Syndrome.

Background: Sickle cell trait (SCT), the heterozygous form of sickle cell disease, is generally thought of as a benign condition. However, it is possible for those with SCT to have serious complications, especially when they are exposed to high altitudes where oxygen levels are low.

Case Report: We present a case of a 41-year-old man with a history of SCT who developed severe epigastric pain and nearly lost consciousness while traveling on a commercial airplane.

Assessment of meso- and microplastics distribution in coastal sediments and waters at the middle estuary of the Rio De La Plata, Argentina (SW Atlantic Ocean).

Estuarine coastal water and sediments collected from multiple locations within the middle Río de la Plata (RDLP) estuary were analyzed in order to identify the presence of microplastics (MPs, <5 mm) and mesoplastics (MePs, 5-25 mm) in one of the most significant estuaries in the Southwestern Atlantic. The present study represents one of the first researches to survey MPs and MePs contamination in key stations at RDLP estuary. Average concentrations of 14.

Assessment of groundwater-driven dissolved nutrient inputs to coastal wetlands associated with marsh-coastal lagoons systems of the littoral of the outer Río de la Plata estuary.

In coastal wetlands the hydrological dynamics and in particular the groundwater flows play a critical role in the establishment of wetlands and in the transport of salts and nutrients. The aim of the work is to analyze the role that groundwater discharge has in the dynamics of the dissolved nutrients of the wetland associated with the coastal lagoon and marshes of the Punta Rasa Natural Reserve, which is located on the coastal sector of the southern end of the Río de la Plata estuary. A monitoring network in the form of transects was generated in order to define groundwater flows and take samples of dissolved species of N and P.

Amino Acid Profiles in Older Adults with Frailty: Secondary Analysis from MetaboFrail and BIOSPHERE Studies.

An altered amino acid metabolism has been described in frail older adults which may contribute to muscle loss and functional decline associated with frailty. In the present investigation, we compared circulating amino acid profiles of older adults with physical frailty and sarcopenia (PF&S, = 94), frail/pre-frail older adults with type 2 diabetes mellitus (F-T2DM, = 66), and robust non-diabetic controls ( = 40). Partial least squares discriminant analysis (PLS-DA) models were built to define the amino acid signatures associated with the different frailty phenotypes.

Development of a novel Ultra Performance Liquid Chromatography Tandem-Mass Spectrometry (UPLC-MS/MS) method to measure l-arginine metabolites in plasma.

Introduction: Arginine metabolism is involved in the regulation of several biological processes. Many liquid chromatography tandem-mass spectrometry methods for the determination of arginine and its metabolites have been developed but they are time consuming and imply long pre-analytical procedures. The purpose of this study was to develop a rapid method for the simultaneous determination of arginine, citrulline, ornithine, symmetric and asymmetric dimethylarginine and monomethylarginine in human plasma.

Effects of l-Arginine Plus Vitamin C Supplementation on l-Arginine Metabolism in Adults with Long COVID: Secondary Analysis of a Randomized Clinical Trial.

Altered l-arginine metabolism has been described in patients with COVID-19 and has been associated with immune and vascular dysfunction. In the present investigation, we determined the serum concentrations of l-arginine, citrulline, ornithine, monomethyl-l-arginine (MMA), and symmetric and asymmetric dimethylarginine (SDMA, ADMA) in adults with long COVID at baseline and after 28-days of l-arginine plus vitamin C or placebo supplementation enrolled in a randomized clinical trial, compared with a group of adults without previous history of SARS-CoV-2-infection. l-arginine-derived markers of nitric oxide (NO) bioavailability (i.

A New Potential Resource in the Fight against Candida auris: the Essential Oil in Synergy with Antifungal Drug.

Candida auris is a multidrug-resistant fungus known to be a global public health problem. The skin-based transmission, together with the marked resistance to drugs, resulted in its rapid spread to all continents. The aim of this study was to identify an essential oil (EO) active in the fight against C.

Assessment of cation exchange as conditioning processes of water chemistry in freshwater lenses.

Freshwater lenses are groundwater sources of limited dimensions that can be usually found in a variety of climates worldwide. These aquifers' quality is important for socioeconomic development, being cation exchange one of the most important geochemical processes that can change the water geochemistry. This study aims to assess the cation exchange processes that determine the chemistry of freshwater lenses in a multilayer aquifer type, considering the center-east of the Pampean Region (Argentina) as a case study.

A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study.

Hereditary transthyretin amyloidosis is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. ATTRv amyloidosis can present as a progressive, axonal sensory autonomic and motor neuropathy or as an infiltrative cardiomyopathy. The definition of biomarkers for the early diagnosis of ATTRv is particularly important in the current era of emerging treatments.

Effects of l-Arginine Plus Vitamin C Supplementation on Physical Performance, Endothelial Function, and Persistent Fatigue in Adults with Long COVID: A Single-Blind Randomized Controlled Trial.

Long COVID, a condition characterized by symptom and/or sign persistence following an acute COVID-19 episode, is associated with reduced physical performance and endothelial dysfunction. Supplementation of l-arginine may improve endothelial and muscle function by stimulating nitric oxide synthesis. A single-blind randomized, placebo-controlled trial was conducted in adults aged between 20 and 60 years with persistent fatigue attending a post-acute COVID-19 outpatient clinic.

Short-Chain Fatty Acids Modulate Sperm Migration through Olfactory Receptor 51E2 Activity.

The non-orthotopic expression of olfactory receptors (ORs) includes the male reproductive system, and in particular spermatozoa; their active ligands could be essential to sperm chemotaxis and chemical sperm-oocyte communication. OR51E2 expression has been previously reported on sperm cells' surface. It has been demonstrated in different cellular models that olfactory receptor 51E2 (OR51E2) binds volatile short-chain fatty acids (SCFAs) as specific ligands.

Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Aims/hypothesis: Type 2 diabetes increases the risk of cardiovascular and renal complications, but early risk prediction could lead to timely intervention and better outcomes. Genetic information can be used to enable early detection of risk.

Methods: We developed a multi-polygenic risk score (multiPRS) that combines ten weighted PRSs (10 wPRS) composed of 598 SNPs associated with main risk factors and outcomes of type 2 diabetes, derived from summary statistics data of genome-wide association studies.

Bile Acids Activated Receptors in Inflammatory Bowel Disease.

Once known exclusively for their role in nutrients absorption, bile acids have emerged as signaling molecules, generated from cholesterol breakdown, acting on several immune cells by activating a variety of receptors including the G protein-coupled bile acid receptor 1 (GPABR1 or TGR5), the Farnesoid-X-receptor (FXR) and, as recently discovered, the retinoid-related orphan receptors (ROR)γt. GPBAR1, FXR, and RORγt are highly expressed in cells of the innate and adaptive immune system (i.e.

A Modular, Transdiagnostic Approach to Treating Severe Irritability in Children and Adolescents.

Severe irritability is common in treatment-referred youth, often occurring in externalizing, anxiety, and mood conditions. The best available evidence indicates behavioral parent training and cognitive-behavioral therapy as first-line interventions. Modular approaches (eg, MATCH) can package these strategies in a flexible format, facilitating personalization.

Flood hazard assessment in large plain basins with a scarce slope in the Pampean Plain, Argentina.

Floods are one of the most common natural phenomena and represent a serious hazard when they affect human activities. Structural measures are commonly used to mitigate them; however, these do not always give good results, mainly in plain areas with scarce slope. In this sense, the generation of a flood hazard map contributes to adequate hazard management and disaster prevention.

SARS-CoV-2 Receptor ACE2 Gene Is Associated with Hypertension and Severity of COVID 19: Interaction with Sex, Obesity, and Smoking.

Background: Angiotensin-converting enzyme 2 (ACE2) has been identified as the entry receptor for coronaviruses into human cells, including severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that causes coronavirus disease 2019 (COVID-19). Since hypertension (HT) is a leading comorbidity in non-survivors of COVID-19, we tested for association between ACE2 gene and HT in interaction with specific pre-existing conditions known to be associated with COVID-19 severity.

Methods: Genetic analysis of ACE2 gene was conducted in French-Canadian (FC) and British populations.

Clinician training, then what? Randomized clinical trial of child STEPs psychotherapy using lower-cost implementation supports with versus without expert consultation.

Objective: Implementation of evidence-based treatments in funded trials is often supported by expert case consultation for clinicians; this may be financially and logistically difficult in clinical practice. Might less costly implementation support produce acceptable treatment fidelity and clinical outcomes?

Method: To find out, we trained 42 community clinicians from four community clinics in Modular Approach to Therapy for Children (MATCH), then randomly assigned them to receive multiple lower-cost implementation supports (LC) or expert MATCH consultation plus lower-cost supports (CLC). Clinically referred youths (N = 200; ages 7-15 years, M = 10.

Bile Acid Signaling in Inflammatory Bowel Diseases.

Bile acids are a group of chemically different steroids generated at the host/microbial interface. Indeed, while primary bile acids are the end-product of cholesterol breakdown in the host liver, secondary bile acids are the products of microbial metabolism. Primary and secondary bile acids along with their oxo derivatives have been identified as signaling molecules acting on a family of cell membrane and nuclear receptors collectively known as "bile acid-activated receptors.