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.

Sport-specific differences in ACL injury, treatment and return to sports: Basketball.

Basketball is an intense, fast-paced game that is physically, highly demanding. Certain aspects of the game, such as the quick pivoting and cutting movements, predispose the players to serious knee injuries, including anterior cruciate ligament (ACL) tears. While an ACL tear can be a devastating condition for players, multidisciplinary management of the injury can provide the players with a reasonable chance to return to play at the pre-injury level.

Ileal Predominance in Crohn's Disease Is Associated With Increased Intestinal Surgery and Biological Therapy Use, With Lower Treatment Persistence.

Introduction: Crohn's disease (CD) varies by location, potentially affecting therapy efficacy and surgery risk, although research on this topic is conflicting. This study aims to investigate the independent association between CD location and therapeutic patterns.

Methods: We analyzed patients with CD diagnosed from January 2005 to May 2023 registered in the nationwide ENEIDA registry.

Artificial intelligence in triage of COVID-19 patients.

In 2019, COVID-19 began one of the greatest public health challenges in history, reaching pandemic status the following year. Systems capable of predicting individuals at higher risk of progressing to severe forms of the disease could optimize the allocation and direction of resources. In this work, we evaluated the performance of different Machine Learning algorithms when predicting clinical outcomes of patients hospitalized with COVID-19, using clinical data from hospital admission alone.

Genetic counselling in the era of next generation sequencing.

Advances in next-generation sequencing (NGS) technologies have made the detection of the molecular causes of paediatric diseases increasingly affordable, accessible and rapid. While exome sequencing and genome sequencing were until recently only available for research, they are now used in health care practice. The clinical application of NGS has raised many challenges in genetic counselling for families in terms of the interpretation of test results and incidental findings, as well as technical limitations in the event of inconclusive results.

Socioeconomic inequalities in adherence to clinical practice guidelines and breast cancer survival: a multicentre population-based study in Spain.

Introduction And Aims: Women residing in lower socioeconomic status (SES) areas have lower breast cancer survival but it is not clear how differences in the quality of care received contribute to these disparities. We compared adherence to clinical practice guidelines (CPG) for the diagnosis and treatment of breast cancer and subsequent breast cancer survival between women residing in lower versus higher SES areas.

Methods: We conducted a multicentre population-based study of all new cases of invasive breast cancer in women diagnosed 2010-2014 in six Spanish provinces with population-based cancer registries (n=3206).

Guidelines for the standardization of pre-analytical variables for salivary biomarker studies in Alzheimer's disease research: An updated review and consensus of the Salivary Biomarkers for Dementia Research Working Group.

There is a pressing need for accessible biomarkers with high diagnostic accuracy for Alzheimer's disease (AD) diagnosis to facilitate widespread screening, particularly in underserved groups. Saliva is an emerging specimen for measuring AD biomarkers, with distinct contexts of use that could complement blood and cerebrospinal fluid and detect various analytes. An interdisciplinary, international group of AD and related dementias (ADRD) researchers convened and performed a narrative review of published studies on salivary AD biomarkers.

Heterodisomy in the locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).

Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.

Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The locus is one of the loci within the genome that is imprinted.

Localized Pigmented Villonodular Synovitis in the Shoulder: Report of a Case Treated through Arthroscopy.

Pigmented villonodular synovitis (PVNS) is rare in the shoulder, with few descriptions in the literature. We present the case of a 58-year-old female patient with no history of trauma. The patient reported pain for 2 months with no limb irradiation and presented lifting strength loss and progressive limitation of active and passive mobility.

Effects of intramuscular administration of Platelet-Rich Plasma on denervated muscle after peripheral nerve injury.

Purpose: After peripheral nerve injury (PNI), prolonged denervation of the target muscle prevents adequate reinnervation even if the nerve is repaired. The aim of this work is to analyze the effect of intramuscular Platelet-Rich Plasma (PRP) in a denervated muscle due to PNI.Materials and.

Interrelationships between polygenic risk scores, cognition, symptoms, and functioning in first-episode psychosis: A network analysis approach.

Psychopathological manifestations and cognitive impairments are core features of psychotic disorders. Polygenic risk scores (PRS) offer insights into the relationships between genetic vulnerability, symptomatology, and cognitive impairments. This study used a network analysis to explore the connections between PRS, cognition, psychopathology, and overall functional outcomes in individuals experiencing a first episode of psychosis (FEP).

Bioactive Effect of Plasma-Rich in Growth Factors (PRGFs) on Cell-Based In Vitro Models of Skin Inflammation in Relation to Inflammatory Skin Disorders.

Plasma rich in growth factors (PRGFs) has proven potentially beneficial as a bioregenerator in patients with chronic skin disorders due to its anti-inflammatory effect. However, its therapeutic potential may be limited by soluble autoimmune components associated with inflammatory dermatoses in blood plasma. To evaluate the impact of skin health status on cell bioactivity, PRGF was prepared from healthy (H) donors as well as from individuals with atopic dermatitis (AD), psoriasis (PS), or lichen sclerosus (LS).

Factors Predictive of Success in Uncontrolled Donation After Circulatory Death in the Community of Madrid: An Analysis of Data From the Regional Registry of Donation and Transplantation (CORE Registry).

Unlabelled: Unfortunately, organ donation remains a challenge today. In Spain, uncontrolled Donation after Circulatory Death was introduced in cardiorespiratory arrests witnessed by out-of-hospital emergency services (OHES) to increase the number of donors. However, the selection of donor patients remains a challenge today.

Major abnormalities of the electrocardiogram and cardiovascular risk in a medium and high-risk Mediterranean population.

Introduction: Major electrocardiogram abnormalities (MECG) are common in middle-aged and older individuals and could be an important factor in predicting cardiovascular events.

Objective: To analyse the association between MECG (Minnesota classification) and CVE independently of classic cardiovascular risk factors (CVRF), and to assess whether they improve the prediction according to the Spanish Coronary Event Risk Function (FRESCO).

Method: 1.

The prevalence of subclassification-based diagnoses when considering cervical contribution in shoulder pain patients: a secondary analysis from a previous research.

Objectives: Determining the prevalence of different shoulder subclassification-based diagnoses using a defined exclusion-type diagnostic algorithm. Analyzing the relationships between cervical contribution and other shoulder diagnoses.

Methods: A proposal of a shoulder pain diagnosis based on functional subclassification was carried out in all subjects.

Influence of an inspiratory muscle fatigue protocol on older adults on respiratory muscle strength, muscle oxygen saturation, and functional capacity: a randomized controlled trial.

Background: The fatigue of the inspiratory musculature, particularly the diaphragm, has been demonstrated to exert systemic effects on the body, impacting cardiovascular and performance outcomes. This study aimed to evaluate the influence of an inspiratory muscle fatigue protocol on respiratory muscle strength, functionality, and muscle oxygen saturation in older adults.

Methods: A single-blinded randomized controlled clinical trial was conducted on twenty-four older adults aged over 60 years, who met inclusion criteria were physically independent in terms of gait and functionality.

Instruments used by physiotherapists to assess functional capacity in hospitalized patients with COVID-19: An online survey.

Background: Assessing functional capacity in hospitalized patients with COVID-19 may have been neglected due to a great demand for resources at the height of pandemic and the lack of specific assessment instruments for this population.

Objectives: To identify the instruments used to evaluate functional capacity in COVID-19 patients hospitalized in COVID-19 wards and ICUs and the associations between use of assessment instruments and physiotherapist characteristics METHODS: The survey was conducted using REDCap web-based application, following the Consensus-Based Checklist for Reporting of Survey Studies guidelines. A non-probability recruitment approach aimed at physiotherapists who had treated hospitalized patients with COVID-19 in Brazil.

Methodological Challenges in Randomized Controlled Trials of mHealth Interventions: Cross-Sectional Survey Study and Consensus-Based Recommendations.

Background: Mobile health (mHealth) refers to using mobile communication devices such as smartphones to support health, health care, and public health. mHealth interventions have their own nature and characteristics that distinguish them from traditional health care interventions, including drug interventions. Thus, randomized controlled trials (RCTs) of mHealth interventions present specific methodological challenges.

High Power Short Duration Atrial Fibrillation Ablation: Long-Term Predictors of Success and Recurrence - A Multivariate Analysis.

Background: Point-by-point ablation with a high-power short-duration (HPSD) technique in atrial fibrillation (AF) ablation is used worldwide. Little data is available with the HPSD and dragging technique (DT).

Objective: To perform a multivariate analysis of clinical and procedural predictors of success and recurrence in HPSD with DT.

Treatment with combined exercise in patients with resistant major depression (TRACE-RMD): study protocol for a randomised controlled trial.

Background: Around 40% of people with major depressive disorder (MDD) experience moderate remission, with the remainder meeting the criteria for resistant major depression (RMD). It has been shown that exercise has a low-to-moderate effect on MDD, but there is a lack of evidence on exercise interventions in RMD patients. The primary purpose of the proposed study will be to investigate the effect of a 12-week supervised combined exercise program on depressive symptoms in people with RMD compared to a treatment-as-usual (TAU) group.

Urinary tartaric acid as a biomarker of wine consumption and cardiovascular risk: the PREDIMED trial.

Background And Aims: Moderate wine consumption has been associated with lower cardiovascular disease (CVD) risk in older populations. However, wine consumption information through self-reports is prone to measurement errors inherent to subjective assessments. The aim of this study was to evaluate the association between urinary tartaric acid, an objective biomarker of wine consumption, and the rate of a composite clinical CVD event.