Impacts of Different Perinatal Factors on Faecal Immune Compounds in Infants: Determination of Normal Values.

The gut microbiota is a key and primary stimulus for the development of a host's immune system. The early establishment of the gut microbiota is affected by several perinatal factors but little is known about their influence on shaping normal immune development and, consequently, on the programming of future health. The analysis of different immune compounds is well-documented in serum samples; however, their presence in faecal samples has not been studied, and this information could be valuable in early life.

Underutilization of Injectable Parkinson's Disease Medication: An Analysis of Neurologist and Patient Perspectives.

Background: We hypothesized that many neurologists underestimate patients' willingness to self-administer injectable Parkinson's disease (PD) medication.

Objective: To evaluate patient and physician perceptions contributing to underutilization of PD medications for acute OFF episodes.

Analytic Method: Data were collected using an online survey including n = 4063 PD patients experiencing OFF episodes and n = 200 neurologists.

Hispanic-Serving Institutions Contributing to the Training and Diversity of the Public Health and Health Care Workforce.

The University of Texas at El Paso (UTEP), a Hispanic Serving and Carnegie R1 institution, serves as a pathway for socioeconomically diverse Hispanic/Latino (H/L) health profession students via equal-access strategies. The Center for Institutional Evaluation, Research, and Planning data illustrates UTEP's success in graduating H/L health professionals (i.e.

Personalized Nutrition with Banked Human Milk for Early Gut Microbiota Development: In Pursuit of the Perfect Match.

The correct initial colonization and establishment of the gut microbiota during the early stages of life is a key step, with long-lasting consequences throughout the entire lifespan of the individual. This process is affected by several perinatal factors; among them, feeding mode is known to have a critical role. Breastfeeding is the optimal nutrition for neonates; however, it is not always possible, especially in cases of prematurity or early pathology.

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Background: Defects in GNAO1, the gene encoding the major neuronal G-protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes.

Objectives: We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1-related disorders.

Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.

GNAO1 mutated in pediatric encephalopathies encodes the major neuronal G protein Gαo. Of the more than 80 pathogenic mutations, most are single amino acid substitutions spreading across the Gαo sequence. We performed extensive characterization of Gαo mutants, showing abnormal GTP uptake and hydrolysis and deficiencies in binding Gβγ and RGS19.

GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.

Background: Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum ranging from severe early-onset epileptic encephalopathy and developmental delay to mild adolescent/adult-onset dystonia. Genotype-phenotype correlation and molecular mechanisms underlying the disease remain understudied.

Methods: We analyzed the clinical course of a child carrying the novel GNAO1 mutation c.

The Inflammasome-Dependent Dysfunction and Death of Retinal Ganglion Cells after Repetitive Intraocular Pressure Spikes.

The dysfunction and selective loss of retinal ganglion cells (RGCs) is a known cause of vision loss in glaucoma and other neuropathies, where ocular hypertension (OHT) is the major risk factor. We investigated the impact of transient non-ischemic OHT spikes (spOHT) on RGC function and viability in vivo to identify cellular pathways linking low-grade repetitive mechanical stress to RGC pathology. We found that repetitive spOHT had an unexpectedly high impact on intraocular homeostasis and RGC viability, while exposure to steady OHT (stOHT) of a similar intensity and duration failed to induce pathology.

Old Folks, Bad Boon: Antimicrobial Resistance in the Infant Gut Microbiome.

The development of the intestinal microbiome in the neonate starts, mainly, at birth, when the infant receives its founding microbial inoculum from the mother. This microbiome contains genes conferring resistance to antibiotics since these are found in some of the microorganisms present in the intestine. Similarly to microbiota composition, the possession of antibiotic resistance genes is affected by different perinatal factors.

Antigen-Induced IL-1RA Production Discriminates Active and Latent Tuberculosis Infection.

The IGRA (Interferon Gamma Release Assays) test is currently the standard specific test for infection status. However, a positive test cannot distinguish between active tuberculosis disease (ATBD) and latent tuberculosis infection (LTBI). Developing a test with this characteristic is needed.

Promoting children's science, technology, engineering, and mathematics learning at home through tinkering and storytelling.

This study examined whether connecting storytelling and tinkering can advance early STEM (science, technology, engineering, and mathematics) learning opportunities for children. A total of 62 families with 4- to 10-year-old ( = 8.03) children were observed via Zoom.

In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.

Background: The GNAO1 gene, encoding the major neuronal G protein Gαo, is mutated in a subset of pediatric encephalopathies. Most such mutations consist of missense variants.

Methods: In this study, we present a precision medicine workflow combining next-generation sequencing (NGS) diagnostics, molecular etiology analysis, and personalized drug discovery.

The Gut Microbiota in Infants: Focus on .

A long time has passed since the initial pioneering works were carried out on the composition of infant microbiota by Thedore Escherich (1857-1911) and Ernst Moro (1874-1951), and since the observations of Henry Tissier (1866-1916) which linked "Bacillus bifidus" to the health of babies [...

Screen-related discord and dismay in low-income Mexican American families with toddlers: A qualitative study.

Purpose: Understanding parental experiences with managing their toddler's screen use is important to inform the design of interventions addressing early childhood screen use, yet current evidence is limited. To enhance our understanding of the context of toddler screen use, this study characterizes the screen-related discord and dismay parents experience in families with toddlers.

Design And Methods: In-depth interviews were conducted to explore everyday experiences with screen use among low-income Mexican American caregivers of toddlers (21 mothers, 10 fathers, 1 grandmother).

Restoration of the GTPase activity and cellular interactions of Gα mutants by Zn in encephalopathy models.

De novo point mutations in , gene encoding the major neuronal G protein Gα, have recently emerged in patients with pediatric encephalopathy having motor, developmental, and epileptic dysfunctions. Half of clinical cases affect codons Gly, Arg, or Glu; we show that these mutations accelerate GTP uptake and inactivate GTP hydrolysis through displacement Gln critical for GTP hydrolysis, resulting in constitutive GTP binding by Gα. However, the mutants fail to adopt the activated conformation and display aberrant interactions with signaling partners.

Psychomotor development in very and extremely low-birth-weight preterm children: Could it be predicted by early motor milestones and perinatal complications?

Preterm-born children are at risk of slower psychomotor development. This risk may be associated with low birth weight and other perinatal factors and morbidities. We aimed to assess psychomotor development in school-aged preterm children, and to determine whether some early motor and perinatal variables could be related to and/or predict the later motor achievements.

4Ms for Early Learners: A Skills-Based Geriatrics Curriculum for Second-Year Medical Students.

Introduction: Given the growing population of older adults, it is of utmost importance for all future physicians to be trained in the core skills of conducting geriatric assessment.

Methods: We designed an interactive, skills-based session introducing core competencies for geriatric assessment for second-year medical students (MS2s). We organized our curriculum for early learners based on the 4Ms framework: mind/memory, medications, mobility, and matters most.

Symptomatic ACL mucoid degeneration in middle-age athletes.

Background: Mucoid degeneration of the anterior cruciate ligament (ACL) is an uncommon non-traumatic cause of knee pain and motion restriction, typically seen in a middle-aged population. Primarily, the management consists of partial arthroscopic debridement and notchplasty, which has proven satisfactory clinical and functional outcomes.

Study Objectives: This review aims to highlight key clinical, radiological and arthroscopic findings of mucoid ACL degeneration, and also to provide an approach to manage a symptomatic middle-aged athlete.

Local and substrate-specific S-palmitoylation determines subcellular localization of Gαo.

Peripheral membrane proteins (PMPs) associate with cellular membranes through post-translational modifications like S-palmitoylation. The Golgi apparatus is generally viewed as the transitory station where palmitoyl acyltransferases (PATs) modify PMPs, which are then transported to their ultimate destinations such as the plasma membrane (PM). However, little substrate specificity among the many PATs has been determined.

In Vitro Probiotic Modulation of the Intestinal Microbiota and 2'Fucosyllactose Consumption in Fecal Cultures from Infants at Two Months of Age.

2'-fucosyllactose (2'FL) is one of the most abundant oligosaccharides in human milk, with benefits on neonatal health. Previous results point to the inability of the fecal microbiota from some infants to ferment 2'FL. We evaluated a probiotic formulation, including the strains Rosell-52 (R0052), subsp.

Gαi2-induced conductin/axin2 condensates inhibit Wnt/β-catenin signaling and suppress cancer growth.

Conductin/axin2 is a scaffold protein negatively regulating the pro-proliferative Wnt/β-catenin signaling pathway. Accumulation of scaffold proteins in condensates frequently increases their activity, but whether condensation contributes to Wnt pathway inhibition by conductin remains unclear. Here, we show that the Gαi2 subunit of trimeric G-proteins induces conductin condensation by targeting a polymerization-inhibiting aggregon in its RGS domain, thereby promoting conductin-mediated β-catenin degradation.