Evaluation of Lyso-Gb1 as a biomarker for Gaucher disease treatment outcomes using data from the Gaucher Outcome Survey.

Background: Patients with Gaucher disease (GD) require continual monitoring; however, lack of specific disease biomarkers was a significant challenge in the past. Glucosylsphingosine (lyso-Gb1) has been shown to be a reliable, key, specific, and sensitive biomarker for diagnosis, prognosis, and treatment response in clinical studies of patients with GD. We evaluated the change in lyso-Gb1 concentration over time following enzyme replacement therapy in patients with confirmed GD using real-world data from the Gaucher Outcome Survey disease registry.

Turning residues into valuable compounds: organic waste conversion into odd-chain fatty acids via the carboxylate platform by recombinant oleaginous yeast.

Environmental concerns are rising the need to find cost-effective alternatives to fossil oils. In this sense, short-chain fatty acids (SCFAs) are proposed as carbon source for microbial oils production that can be converted into oleochemicals. This investigation took advantage of the outstanding traits of recombinant Yarrowia lipolytica strains to assess the conversion of SCFAs derived from real digestates into odd-chain fatty acids (OCFA).

Lesbian, gay, bisexual, and transgender clinical competence of health professionals in Poland and Spain: results of the health exclusion research in Europe (HERE) study.

Introduction: Health disparities experienced by lesbian, gay, bisexual, and transgender (LGBT) individuals have been partially attributed to healthcare professionals' lack of cultural competence in addressing their specific needs. This study aimed to assess the differences in competencies and preparedness among health professionals from Poland and Spain when working with LGBT patients.

Methodology: Data were collected between June and August 2024 through a cross-sectional survey involving 673 health professionals (Mage = 33.

Therapeutic exercise protocol for the prevention of anterior cruciate ligament injuries in female soccer players with dynamic knee valgus (RCT).

Background: Women's football has experienced exponential growth over the last 10 years. Its popularity is associated with an increase in ACL injuries. They constitute a major current problem as they account for 43% of the injury burden during the sports season.

Association between early dietary patterns and cardiometabolic health at age 8: a confirmatory analysis of the European Childhood Obesity Project.

Background & Aim: Metabolic and cardiovascular health outcomes are strongly influenced by diet. Dietary habits established in early childhood may persist into adulthood. This study aimed to examine the association between dietary patterns at both 2 and 8 years of age, explaining the maximum variability of high- and low-quality fats, sugars, and fibre, and cardiometabolic markers at age 8 years.

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.

Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.

Influence of the metabolic control in patients with type 1 diabetes on their oral health status and the need for orthodontic treatment in a group of Spanish children (aged 6-12 years): a cross-sectional study.

Background: The aim of this study was to analyze the influence of good metabolic control, based on glycosylated hemoglobin (HbA1c) levels, on oral health status and the need for orthodontic treatment in children.

Methods: This cross-sectional study was carried out at the Dental Clinic of the University of Salamanca (Spain) during the years 2020 and 2024. A total of 260 children with type 1 diabetes (aged between 6 and 12 years) participated.

Relationship between age, conditioning intensity, and outcome after allografting in adults age ≥60 years with AML.

Methodological advancements now allow older adults with AML to receive allografts although conflicting data exist regarding relative outcomes across age groups and benefits of different conditioning intensities. We retrospectively analyzed 495 adults aged 60-64 (n = 184), 65-69 (n = 189), or ≥70 (n = 122) allografted for AML in remission at our institution from 2006 to 2023. There were no significant differences in relapse or relapse-free survival (RFS) among the 3 age cohorts after multivariable adjustment.

Increased plasma DOPA decarboxylase levels in Lewy body disorders are driven by dopaminergic treatment.

DOPA Decarboxylase (DDC) has been proposed as a cerebrospinal fluid (CSF) biomarker with increased concentrations in Lewy body disorders (LBDs) and highest levels in patients receiving dopaminergic treatment. Here we evaluate plasma DDC, measured by proximity extension assay, and the effect of dopaminergic treatment in three independent LBD (with a focus on dementia with Lewy bodies (DLB) and Parkinson's disease (PD)) cohorts: an autopsy-confirmed cohort (n = 71), a large multicenter, cross-dementia cohort (n = 1498) and a longitudinal cohort with detailed treatment information (n = 66, median follow-up time[IQR] = 4[4, 4] years). Plasma DDC was not altered between different LBDs and other disease groups or controls in absence of treatment.

Acute appendicitis and its treatment: a historical overview.

Purpose: Acute appendicitis (AA) is the leading cause of acute abdomen worldwide, with an incidence of 90-100 cases per 100,000 individuals annually and a lifetime risk of 7-12%. Despite its prevalence, historical accounts of AA are limited, particularly when compared to conditions like haemorrhoids, likely due to the appendix's internal location. This article traces the historical evolution of AA treatment from ancient times to the present, highlighting key contributions.

ESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.

Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.

Global meta-analysis shows action is needed to halt genetic diversity loss.

Mitigating loss of genetic diversity is a major global biodiversity challenge. To meet recent international commitments to maintain genetic diversity within species, we need to understand relationships between threats, conservation management and genetic diversity change. Here we conduct a global analysis of genetic diversity change via meta-analysis of all available temporal measures of genetic diversity from more than three decades of research.

A clinical narrative corpus on nut allergy: annotation schema, guidelines and use case.

This article describes a dataset on nut allergy extracted from Spanish clinical records provided by the Hospital Universitario Fundación de Alcorcón (HUFA) in Madrid, Spain, in collaboration with its Allergology Unit and Information Systems and Technologies Department. There are few publicly available clinical texts in Spanish and having more is essential as a valuable resource to train and test information extraction systems. In total, 828 clinical notes in Spanish were employed and several experts participated in the annotation process by categorizing the annotated entities into medical semantic groups related to allergies.

A Systematic Review and Meta-analysis of the Clinical Impact of Prophylactic Quinolones with Adjuvant Bacillus Calmette-Guérin Instillation for Non-muscle-invasive Bladder Cancer.

Background And Objective: Bacillus Calmette-Guérin (BCG) reduces disease recurrence and progression in intermediate- and high-risk non-muscle-invasive bladder cancer (NMIBC). BCG-associated adverse events during instillations are common, leading to treatment cessation. Prophylactic use of quinolones in conjunction with BCG instillations is one approach for reducing BCG-associated adverse events.

Advances in systematic conservation planning to meet global biodiversity goals.

Systematic conservation planning (SCP) involves the cost-effective placement and application of management actions to achieve biodiversity conservation objectives. Given the political momentum for greater global nature protection, restoration, and improved management of natural resources articulated in the targets of the Global Biodiversity Framework, assessing the state-of-the-art of SCP is timely. Recent advances in SCP include faster and more exact algorithms and software, inclusion of ecosystem services and multiple facets of biodiversity (e.

Identification and Management of Medical Comorbidities in Patients With HR+/HER2- Metastatic Breast Cancer Treated With CDK4/6 Inhibitors: Literature Review and Recommendations From Experts in Spain Opinion.

Approximately one-third of patients with breast cancer have comorbidities at the time of their diagnosis. Recommendations for managing metastatic breast cancer are usually based on the results of clinical trials, which often limit patients with comorbidities. However, comorbidities greatly influence the quality of life, patient survival rate and treatment choice, particularly in older patients.

Posterior fossa ring-enhancing lesions in the adult immunocompetent host: illustrative cases, systematic review, and proposed diagnostic algorithm.

Purpose: Posterior fossa ring-enhancing lesions (PFREL) in the adult immunocompetent hosts pose a diagnostic challenge. We aimed to evaluate the spectrum of PFREL etiologies and propose a diagnostic algorithm.

Methods: This study involved a retrospective analysis of PFREL cases from our institution (January 2023 to April 2024) and a systematic literature review conducted using Embase and PubMed databases following the PRISMA 2020 guidelines.

Initial Management of Acute Pancreatitis.

The initial management of acute pancreatitis (AP) is continually evolving. Goal-directed moderate fluid resuscitation is now preferred over more aggressive strategies. Antibiotics should be administered only when there is a proven or highly probable infection rather than for prophylactic purposes.

Improving lung protective mechanical ventilation: the individualised intraoperative open-lung approach.

Despite the maturity and sophistication of anaesthesia workstations, improvements in our understanding of intraoperative mechanical ventilation, and use of less invasive surgical techniques, postoperative pulmonary complications (PPCs) are still a common problem in surgical patients of all ages. PPCs are associated with a higher incidence of perioperative morbidity and mortality, longer hospital stays, and higher healthcare costs. PPCs are strongly associated with anaesthesia-induced atelectasis, which predisposes to lung damage when partially collapsed lungs are subjected to mechanical ventilation.

Tunable Spin and Orbital Torques in Cu-Based Magnetic Heterostructures.

Current-induced torques originating from earth-abundant 3d elements offer a promising avenue for low-cost and sustainable spintronic memory and logic applications. Recently, orbital currents─transverse orbital angular momentum flow in response to an electric field─have been in the spotlight since they allow current-induced torque generation from 3d transition metals. Here, we report a comprehensive study of the current-induced spin and orbital torques in Cu-based magnetic heterostructures.

Optimising medium chain carboxylate production in xylan mixed-culture monofermentation.

This work investigates the optimization of medium-chain carboxylate (MCC) production through xylan mixed-culture monofermentation. The pH screening in batch assays showed that the hydrolysis stage and selectivity towards MCC precursors were optimised at pH 6. Subsequently, a continuous stirred tank reactor (CSTR) and a Sequential Batch Reactor (SBR) were operated at different Hydraulic Retention Times (HRT), revealing that the SBR at HRT 2 days yielded the highest caproic acid since lactic acid availability and chain elongation process were balanced.

Anaphylaxis definition, overview, and clinical support tool: 2024 consensus report.

Background: The 2006 National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network (NIAID/FAAN) anaphylaxis criteria are widely used in clinical care and research. In 2020, the World Allergy Organization (WAO) published modified criteria that have not been uniformly adopted. Different criteria contribute to inconsistent care and research outcomes.

Updated Mini-Review on Polychlorinated Diphenyl Ethers (PCDEs) in Food: Levels and Dietary Intake.

Polychlorinated diphenyl ethers (PCDEs) are a class of chlorinated aromatic compounds with structural similarities to polychlorinated biphenyls (PCBs) and polychlorinated dibenzo-p-dioxins/dibenzofurans (PCDD/Fs). Due to their physicochemical properties, PCDEs are highly resistant to degradation and tend to accumulate in soils, sediments, and aquatic organisms, making them capable of entering and persisting in the food chain. As with other persistent organic pollutants (POPs), diet represents the primary route of human exposure to PCDEs.

Non-atherosclerotic coronary causes of myocardial infarction in women.

Ischemic heart disease is the most common cardiovascular cause of death in women worldwide. Obstructive coronary atherosclerosis is the primary cause of myocardial infarction (MI), however, non-atherosclerotic mechanisms of MI, such as spontaneous coronary artery dissection, vasospasm, microvascular dysfunction, embolization, inflammation, coronary anomalies, infectious and infiltrative causes are increasingly being recognized. Emerging data suggest that women are two to five times more likely to have an MI in the absence of coronary atherosclerosis compared to men, but they continue to remain underdiagnosed and undertreated, partly due to underdiagnosis and limited understanding of these mechanisms.