Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.

Developmental and epileptic encephalopathies (DEEs) are severe forms of epilepsy characterized by seizure onset in infancy or childhood. The seizures are typically drug-resistant and often accompanied by significant alterations in the electroencephalogram (EEG). DEEs are associated with neurodevelopmental impairment, which can arise from both the epileptic activity itself and the underlying etiology, which is most often genetic in origin.

Interactions of human serum albumin with phosphate and Tris buffers: impact on paclitaxel binding and nanoparticles self-assembly.

Aim: To investigate the conformational changes in human serum albumin (HSA) caused by chemical (CD) and thermal denaturation (TD) at pH 7.4 and 9.9, crucial for designing controlled drug delivery systems with paclitaxel (PTX).

Plant G × Microbial E: Plant Genotype Interaction with Soil Bacterial Community Shapes Rhizosphere Composition During Invasion.

It is increasingly recognized that different genetic variants of hosts can uniquely shape their microbiomes. Invasive species often evolve in their introduced ranges, but little is known about the potential for their microbial associations to change during invasion as a result. We asked whether host genotype (G), microbial environment (E), or their interaction (G × E) affected the composition and diversity of host-associated microbiomes in Centaurea solstitialis (yellow starthistle), a Eurasian plant that is known to have evolved novel genotypes and phenotypes and to have altered microbial interactions, in its severe invasion of CA, USA.

Correlations between in vitro gastrointestinal digestion of β-galactosidase/carboxymethylchitosan-silica dosage powder and its physicochemical properties.

Oral administration of β-galactosidase, which alleviate lactose intolerance symptoms, is challenging due to its instability throughout the gastrointestinal tract. The objective of this work was to make correlations between the in-vitro digestion and chemical characteristics of a β-galactosidase/carboxymethylchitosan-silica biocatalyst powder. This was obtained by a one-pot silica gel route assisted by carboxymethyl chitosan, using maltose as lyoprotectant.

Severity and mortality of acute respiratory failure in pediatrics: A prospective multicenter cohort in Bogotá, Colombia.

Background And Aims: Acute respiratory failure (ARF) is the most frequent cause of cardiorespiratory arrest and subsequent death in children worldwide. There have been limited studies regarding ARF in high altitude settings. The aim of this study was to calculate mortality and describe associated factors for severity and mortality in children with ARF.

Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients.

Background/aim: This study aimed at the analogous detection of PIK3CA mutations, common in oral squamous cell carcinoma (OSCC), in matched tumor and saliva samples.

Patients And Methods: Tissue and saliva samples were obtained from 29 patients diagnosed with primary OSCC. Saliva samples were obtained preoperatively; tissue specimens were acquired during tumor resection.

N-MYC impairs innate immune signaling in high-grade serous ovarian carcinoma.

High-grade serous ovarian cancer (HGSC) is a challenging disease, especially for patients with immunologically "cold" tumors devoid of tumor-infiltrating lymphocytes (TILs). We found that HGSC exhibits among the highest levels of expression and transcriptional signature across human cancers, which is strongly linked to diminished features of antitumor immunity. N-MYC repressed basal and induced IFN type I signaling in HGSC cell lines, leading to decreased chemokine expression and T cell chemoattraction.

Impact of prior treatment on selinexor, bortezomib, dexamethasone outcomes in patients with relapsed/refractory multiple myeloma: Extended follow-up subgroup analysis of the BOSTON trial.

Objectives: To analyze the impact of prior therapies on outcomes with selinexor, bortezomib, and dexamethasone (SVd) versus bortezomib and dexamethasone (Vd) in 402 patients with relapsed/refractory multiple myeloma (RRMM) in the phase 3 BOSTON trial.

Methods: Post hoc analysis of progression-free survival (PFS), overall survival (OS), and safety for lenalidomide-refractory, proteasome inhibitor (PI)-naïve, bortezomib-naïve, and one prior line of therapy (1LOT) patient subgroups.

Results: At a median follow-up of over 28 months, clinically meaningful improvements in PFS were noted across all groups with SVd.

Capi-score: a quantitative algorithm for identifying disease patterns in nailfold videocapillaroscopy.

Objectives: The European Alliance of Associations for Rheumatology (EULAR) supports the use of nailfold videocapillaroscopy (NVC) to identify disease patterns (DPs) associated with systemic sclerosis (SSc) and Raynaud's phenomenon (RP). Recently, EULAR proposed an easy-to-manage procedure, a so-called Fast Track algorithm, to differentiate SSc from non-SSc patterns in NVC specimens. However, subjectivity among capillaroscopists remains a limitation.

Virtual Teaching Together: engaging parents and young children in STEM activities.

Introduction: Early informal learning experiences are essential for sparking long-term interest in science, technology, engineering, and math (STEM). In a prior study, we found more promising parent involvement outcomes when families of young children were provided with STEM family education events along with home STEM activity kits compared to providing workshops alone. This study was a conceptual replication using the same program--to deliver educational workshops plus home activity kits; however, we varied the delivery method by using virtual "funshops" to evaluate if parents perceived this modality as feasible and useful.

Lung Cancer Screening in People With COPD: The Pamplona-IELCAP Experience.

Introduction: The Global Initiative for Obstructive Lung Disease (GOLD) recommends lung cancer screening for patients with Chronic Obstructive Pulmonary Disease (COPD), but data is lacking regarding results of screening in this high-risk population. The main goal of the present work is to explore if lung cancer screening with Low Dose Chest Tomography (LDCT) in people with COPD, allows lung cancer (LC) diagnosis in early stages with survival compatible with curative state.

Methods: This is a post hoc exploratory analysis.

Testicular Germ Cell Tumors in Children and Adolescents Treated With Bleomycin, Etoposide, and Cisplatin (BEP) Protocol: A Survival Analysis.

Background: Germ cell tumors (GCTs) represent a diverse group of rare neoplasms that vary in location, histology, and clinical presentation. This study focuses on the clinical outcomes and survival rates of children and adolescents treated with the bleomycin, etoposide, and cisplatin (BEP) protocol.

Methods: This observational study evaluated children under 18 years diagnosed with testicular germ cell tumors and treated with the BEP protocol from January 2008 to December 2018.

Morphology and diet are decoupled in nearshore notothenoids from King George Island, West Antarctica.

Antarctic notothenioid fishes show wide adaptive morphological radiation, linked to habitat preferences and food composition. However, direct comparisons of phenotypic variability and feeding habits are still lacking, particularly in stages inhabiting nearshore areas. To assess these relationships, we collected juveniles and adults of the most common benthic species inhabiting shallow waters off the South Shetland Islands within a similar size range, the plunderfish Harpagifer antarcticus, the black rockcod Notothenia coriiceps, and the marbled rockcod Notothenia rossii.

Spine apparatus modulates Ca in spines through spatial localization of sources and sinks.

Unlabelled: Dendritic spines are small protrusions on dendrites in neurons and serve as sites of postsynaptic activity. Some of these spines contain smooth endoplasmic reticulum (SER), and sometimes an even further specialized SER known as the spine apparatus (SA). In this work, we developed a stochastic spatial model to investigate the role of the SER and the SA in modulating Ca dynamics.

Study protocol for NeuroCARE: a randomised controlled trial of a psychological intervention for caregivers of patients with primary malignant brain tumours.

Introduction: Caregivers of patients with primary malignant brain tumours experience substantial psychological distress while caring for someone with a progressive, life-limiting neurological illness. However, there are few interventions aimed at addressing the psychosocial needs of this population. We developed and are testing a population-specific, evidence-based, telehealth intervention (NeuroCARE) to reduce anxiety symptoms and improve psychosocial functioning in this caregiver population.

Selinexor-Based Triplet Regimens in Patients With Multiple Myeloma Previously Treated With Anti-CD38 Monoclonal Antibodies.

Background: The increasing use of anti-CD38 monoclonal antibodies (αCD38 mAbs) for newly diagnosed or early relapsed multiple myeloma (MM), especially in non-transplant eligible patients, may lead to more patients developing αCD38 mAb-refractory disease earlier in the treatment course with fewer treatment options.

Patients And Methods: We analyzed the efficacy and safety of selinexor-based triplets (selinexor+dexamethasone [Sd] plus pomalidomide [SPd, n = 23], bortezomib [SVd, n = 16] or carfilzomib (SKd, n = 23]) in a subset of STOMP (NCT02343042) and BOSTON (NCT03110562) study patients treated previously with αCD38 mAbs.

Results: Sixty-two patients (median 4 prior therapies, range 1 to 11, 90.

Does Assessor Masking Affect Kindergartners' Performance on Oral Language Measures? A COVID-19 Era Experiment With Children From Diverse Home Language Backgrounds.

Purpose: The ongoing COVID-19 pandemic has prompted changes to child assessment procedures in schools such as the use of face masks by assessors. Research with adults suggests that face masks diminish performance on speech processing and comprehension tasks, yet little is known about how assessor masking affects child performance. Therefore, we asked whether assessor masking impacts children's performance on a widely used, individually administered oral language assessment and if impacts vary by child home language background.

Disruption of Proteostasis by Natural Products and Synthetic Compounds That Induce Pervasive Unfolding of Proteins: Therapeutic Implications.

Exposure of many cancer cells, including multiple myeloma cells, to cytotoxic concentrations of natural products celastrol and withaferin A or synthetic compounds of the IHSF series resulted in denaturation of a luciferase reporter protein. Proteomic analysis of detergent-insoluble extract fractions from HeLa-derived cells revealed that withaferin A, IHSF058 and IHSF115 caused denaturation of 915, 722 and 991 of 5132 detected cellular proteins, respectively, of which 440 were targeted by all three compounds. Western blots showed that important fractions of these proteins, in some cases approaching half of total protein amounts, unfolded.

Metabolomic-Based Studies of the Intake of Virgin Olive Oil: A Comprehensive Review.

Virgin olive oil (VOO) is a high-value product from the Mediterranean diet. Some health and nutritional benefits have been associated with its consumption, not only because of its monounsaturated-rich triacylglycerols but also due to its minor bioactive components. The search for specific metabolites related to VOO consumption may provide valuable information to identify the specific bioactive components and to understand possible molecular and metabolic mechanisms implicated in those health effects.

Epinephrine Administered in Anaphylaxis: The Evolution of 0.3 mg Dosage.

Background: Despite epinephrine's historical use for over a century and Food and Drug Administration (FDA) approval for EpiPen's use in 1987 to treat anaphylaxis, little information exists regarding selection of the 0.3 mg adult dose. A review of literature was conducted to provide a historical retrospective regarding the evolution of the dosage selected for today's EpiPen.

Greater willingness to reduce microplastics consumption in Mexico than in Spain supports the importance of legislation on the use of plastics.

Introduction: Microplastics (MP) threaten all organisms worldwide. MP are produced directly as microbeads in cosmetics and hygiene products, or indirectly from breakage of larger plastics. The control of MP requires consumers' engagement to refuse products containing microbeads.

Incidence, etiology, sociodemographic and clinical characterization of acute respiratory failure in pediatric patients at a high-altitude city: A multicenter cohort study.

Background: Acute respiratory failure is a life-threatening medical condition, associated with a variety of conditions and risk factors, including acute respiratory diseases which are a frequent cause of pediatric morbidity and mortality worldwide. In Colombia, the literature related to ARF is scarce.

Objective: To determine the incidence, causes, and sociodemographic and clinical characteristics of ARF in three hospitals in Bogota, a high-altitude city located in Colombia, during the COVID-19 pandemic.

Antero-lateral transthoracic endoscopic approach for a calcified thoracic disc herniation.

Thoracic disc herniation is one of the most therapeutically challenging spine conditions. A myriad of surgical approaches have been described in the literature, including posterior, anterior, and combined techniques. However, transthoracic and retropleural approaches are currently deemed the most effective techniques to successfully obtain anterior decompression.