Copy Number Variation in Asthma: An Integrative Review.

Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.

Park7 deletion leads to sex-specific transcriptome changes involving NRF2-CYP1B1 axis in mouse midbrain astrocytes.

Loss-of-function mutations in PARK7, encoding for DJ-1, can lead to early onset Parkinson's disease (PD). In mice, Park7 deletion leads to dopaminergic deficits during aging, and increased sensitivity to oxidative stress. However, the severity of the reported phenotypes varies.

SARS-CoV-2 Infection and Liver Transplant: How Are We Now?

Background: The Omicron variant of SARS-CoV-2 emerged as a new variant of concern, characterized by high transmissibility and lower severity compared with previous variants, and became the majority variant in the sixth wave in Spain. This study aims to assess the impact of SARS-CoV-2 infection on liver transplant recipients (LTRs) during 2023 in the population of Cantabria.

Methods: The study included 295 LTRs undergoing follow-up at the Liver Transplant Unit of the Marqués de Valdecilla University Hospital.

Barriers to early detection: Insurance denials for breast MRI screening in women with germline BRCA1/2 mutations.

Objectives: Women with germline BRCA1/2 pathogenic variants (gBRCA1/2) are recommended to undergo annual breast MRI and mammography. Our objective was to describe the frequency of insurance denials for annual breast MRIs in women with gBRCA1/2 and determine denial trends.

Methods: Women with gBRCA1/2 following in a high-risk breast cancer clinic with breast MRIs ordered from 2020 to 2021 were identified and cross-referenced with a database of insurance denials.

Evaluating the psychosocial experiences of participants in HIV cure research before, during, and after analytical treatment interruptions: A longitudinal qualitative study in the United States.

The lack of socio-behavioral research on stress and psychosocial experiences among research participants who undergo analytical treatment interruption (ATI) in HIV cure studies underscores a critical gap in cure science. Existing literature acknowledges mixed and potentially adverse mental health impacts of ATIs among trial participants, but empirical insights before, during, and after clinical studies are scarce. We used longitudinal in-depth interviews with 11 participants in HIV cure-related research to explore their experiences with stress, coping, and psychological well-being before, during, and after an ATI.

Atypical mucocutaneous manifestations of MPOX: A systematic review.

MPOX is an orthopoxvirus whose infection has been declared a Public Health Emergency of International Concern in 2022 and 2024. It proved to be a virus with markedly heterogeneous and varied clinical presentation. We performed a systematic PubMed review of articles reporting cases of different clinical manifestations of MPOX until October 2024.

Two decades of bacterial ecology and evolution in a freshwater lake.

Ecology and evolution are considered distinct processes that interact on contemporary time scales in microbiomes. Here, to observe these processes in a natural system, we collected a two-decade, 471-metagenome time series from Lake Mendota (Wisconsin, USA). We assembled 2,855 species-representative genomes and found that genomic change was common and frequent.

Deciphering antioxidant interactions via data mining and RDKit.

Minimizing the oxidation of lipids remains one of the most important challenges to extend the shelf-life of food products and reduce food waste. While most consumer products contain antioxidants, the most efficient strategy is to incorporate combinations of two or more compounds, boosting the total antioxidant capacity. Unfortunately, the reasons for observing synergistic / antagonistic / additive effects in food samples are still unclear, and it is common to observe very different responses even for similar mixtures.

Systemically circulating 17β-estradiol enhances the neuroprotective effect of the smoking cessation drug cytisine in female parkinsonian mice.

The smoking cessation drug cytisine exerts neuroprotection in substantia nigra pars compacta (SNc) dopaminergic (DA) neurons of female but not male 6-hydroxydopamine (6-OHDA) lesioned parkinsonian mice. To address the important question of whether circulating 17β-estradiol mediates this effect, we employ two mouse models aimed at depleting systemically circulating 17β-estradiol: (i) bilateral ovariectomy (OVX), and (ii) aromatase inhibition with systemically administered letrozole. In both models, depleting systemically circulating 17β-estradiol in female 6-OHDA lesioned parkinsonian mice results in the loss of cytisine-mediated neuroprotection as measured using apomorphine-induced contralateral rotations and SNc DA neurodegeneration.

The impact of hypoalbuminemia on the long-term prognosis of patients with acute heart failure: The modifying role of carbohydrate antigen 125.

Aims: Hypoalbuminemia is frequently found in patients with heart failure (HF), associated with higher morbimortality in acute HF (AHF). Moreover, Carbohydrate Antigen 125 (CA125) is elevated in most of the AHF patients. In this cohort of patients admitted for AHF, our objective was to evaluate the association between hypoalbuminemia and long-term outcomes, including mortality and HF readmissions, stratified by CA125 concentration.

Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.

High-energy nuclear collisions create a quark-gluon plasma, whose initial condition and subsequent expansion vary from event to event, impacting the distribution of the eventwise average transverse momentum [P([p_{T}])]. Disentangling the contributions from fluctuations in the nuclear overlap size (geometrical component) and other sources at a fixed size (intrinsic component) remains a challenge. This problem is addressed by measuring the mean, variance, and skewness of P([p_{T}]) in ^{208}Pb+^{208}Pb and ^{129}Xe+^{129}Xe collisions at sqrt[s_{NN}]=5.

[Consensus for the treatment of atopic dermatitis in primary care: resolving myths and legends based on evidence].

Atopic dermatitis (AD) is a disease that significantly impacts the quality of life of patients. Although there are multiple evidence-based guidelines, they are usually aimed at providing recommendations to AD specialists rather than primary care physicians (PCPs). The aim of this study was to construct a consensus document for PCPs, with the aim of presenting evidence-based recommendations that allow general practitioners, family physicians, pediatricians, internists and emergency physicians to provide appropriate care to AD patients, facilitating their diagnosis, management, and avoiding delays that can deteriorate patients' f quality of life.

Symbolic dynamics of joint brain states during dyadic coordination.

We propose a novel approach to investigate the brain mechanisms that support coordination of behavior between individuals. Brain states in single individuals defined by the patterns of functional connectivity between brain regions are used to create joint symbolic representations of brain states in two or more individuals to investigate symbolic dynamics that are related to interactive behaviors. We apply this approach to electroencephalographic data from pairs of subjects engaged in two different modes of finger-tapping coordination tasks (synchronization and syncopation) under different interaction conditions (uncoupled, leader-follower, and mutual) to explore the neural mechanisms of multi-person motor coordination.

Basic Science and Pathogenesis.

Background: Published data have highlighted associations between Alzheimer's disease (AD) susceptibility loci and AD-related brain changes. The amyloid imaging to prevent AD (AMYPAD) consortium is a European collaboration consisting of several parent cohorts, four of which had raw genotype array data available. We sought to integrate and harmonise the genetic data, calculate AD polygenic risk scores (PRS), and investigate their association with global amyloid deposition.

Basic Science and Pathogenesis.

Background: Signal Peptide Peptidase-Like 2b (SPPL2b) is relevant for AD, being a brain-specific intramembrane protein involved in the cleavage of Alzheimer's disease (AD)-related proteins, such as BRI2, inflammatory-related proteins like CD74, TNFalpha, and Clec7a, and synaptic proteins Neuregulin-1 and VAMP 1-4. SPPL2b is specifically expressed in the hippocampus and cortex. The cleavage of TNFalpha by SPPL2b promotes the inflammatory pathway.

Clustering patients with COVID-19 according to respiratory support requirements, and its impact on short- and long-term outcome (RECOVID study).

Introduction: The Spanish Society of Pulmonology and Thoracic Surgery created a registry for hospitalised patients with COVID-19 and the different types of respiratory support used (RECOVID). Objectives. To describe the profile of hospitalised patients with COVID-19, comorbidities, respiratory support treatments and setting.

Clinical Manifestations.

Background: Cardiovascular risk factors and depressive symptoms have both been independently shown to be negatively associated with cognitive function. However, the nature of the influence of comorbid depressive symptoms and cardiovascular risk on cognitive function is unclear, and there have been inconsistent findings as to which cognitive domains may be most associated with this relationship.

Method: U.

Clinical Manifestations.

Background: Automated speech and language analysis (ASLA) represents a powerful innovation for detecting and monitoring persons with or at risk for dementia. Given its cost-efficiency and automaticity, its impact can be vital for under-resourced communities, such Spanish-speaking Latinos. However, ASLA markers are understudied in this group and may differ from those established in widely studied populations (e.

Clinical Manifestations.

Background: The Improving Interpreting for Dementia Assessments (MINDSET) study aimed to upskill interpreters through an online co-designed course in dementia and cognitive assessments.

Methods: A single-blinded randomized controlled digital trial conducted between June 2022 and November 2023. Interpreters were randomized to training or waitlist control conditions with 3- and 6-month follow-up.

Clinical Manifestations.

Background: The progression of Alzheimer's disease and related dementias (ADRDs) from prodromal state to dementia syndrome prompts researchers to identify early markers of cognitive decline. One potential risk marker is subjective memory concerns (SMCs). Individuals with greater perceived stress often report more cognitive concerns.

Basic Science and Pathogenesis.

Background: Alzheimer's disease (AD) pathology can start accumulating 20-30 years before cognitive symptoms occur, with increases in inflammation, amyloid-β (Aβ), and hyperphosphorylated Tau during this time. Previous studies have shown that the post-translational modification of a single N-acetylglucosamine moiety to serine or threonine residues to cytosolic or nuclear proteins, known as O-GlcNAcylation, can modify a plethora of cellular processes, including the processing of the amyloid precursor protein, competing with phosphorylation on tau, as well as having anti-inflammatory effects. This study is designed to evaluate how increasing O-GlcNAcylation is impacting AD pathology in the most comprehensive AD rat model to date, the TgF344-AD rat model.

Clinical Manifestations.

Background: Surface dyslexia serves as a complementary feature in the classification of the semantic variant of Primary Progressive Aphasia (PPA), while reading deficits have also been reported in the other two PPA variants. In opaque languages, tasks involving regular and irregular words and non-words are useful tools for dyslexia diagnosis. However, in transparent languages like Spanish, where most words are regular for reading, different approaches are needed.

Clinical Manifestations.

Background: Hispanics are disproportionately affected by Alzheimer's disease and related dementias (ADRD) when compared to non-Hispanic Whites (NHW). Previous studies have shown that neuropsychiatric symptoms can further exacerbate clinical functioning among ADRD patients, leading to increase in caregiver burden and poorer quality of life. However, most studies in this area have focused on predominately Caucasian samples, and relationships between emotional and clinical functioning among Hispanic older adults at risk of ADRD are poorly understood.

Clinical Manifestations.

Background: Subjective memory concerns (SMC) may be a sensitive marker of future cognitive declines. However, there are multiple factors that can impact the predictive utility of SMC. Prior studies have demonstrated the effect of depression on SMC.