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).

Bridging past and present: exploring Cannabis traditions in Armenia through ethnobotanical interviews and bibliographic prospecting.

Background: Cannabis sativa L. (Cannabaceae) has been widely used by humans throughout its history for a variety of purposes (medicinal, alimentary and other uses). Armenia, with its rich cultural history and diverse ecosystems, offers a unique context for ethnobotanical research about traditional uses of Cannabis.

Understanding the local-level variations in seasonality of human respiratory syncytial virus infection: a systematic analysis.

Background: While previous reports characterised global and regional variations in RSV seasonality, less is known about local variations in RSV seasonal characteristics. This study aimed to understand the local-level variations in RSV seasonality and to explore the role of geographical, meteorological, and socio-demographic factors in explaining these variations.

Methods: We conducted a systematic literature review to identify published studies reporting data on local-level RSV season onset, offset, or duration for at least two local sites.

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.

Precession modulates the poleward expansion of atmospheric circulation to the Arctic Ocean.

Under sustained global warming, Arctic climate is projected to become more responsive to changes in North Pacific meridional heat transport as a result of teleconnections between low and high latitudes, but the underlying mechanisms remain poorly understood. Here, we reconstruct subarctic humidity changes over the past 400 kyr to investigate the role of low-to-high latitude interactions in regulating Arctic hydroclimate. Our reconstruction is based on precipitation-driven sediment input variations in the Subarctic North Pacific (SANP), which reveal a strong precessional cycle in subarctic humidity under the relatively low eccentricity variations that dominated the past four glacial-interglacial cycles.

Assessing plastic ingestion in the White stork (Ciconia ciconia) through regurgitated pellets.

Pollution is one of the main factors that threaten biodiversity nowadays. Plastic waste is a global problem which impacts not only on the marine environment but also on the terrestrial one. Great amounts of this kind of refuse are compiled in landfills, where lots of avian species feed.

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.

Medical management pathways for Cushing's disease in pituitary tumors centers of excellence (PTCOEs).

Purpose: A recent update of consensus guidelines for the management of Cushing's disease (CD) included indications for medical therapy. However, there is limited evidence regarding their implementation in clinical practice. This study aimed to evaluate current medical therapy approaches by expert pituitary centers through an audit conducted to validate the criteria of Pituitary Tumors Centers of Excellence (PTCOEs) and provide an initial standard of medical care for CD.

Cross-priming in cancer immunology and immunotherapy.

Cytotoxic T cell immune responses against cancer crucially depend on the ability of a subtype of professional antigen-presenting cells termed conventional type 1 dendritic cells (cDC1s) to cross-present antigens. Cross-presentation comprises redirection of exogenous antigens taken from other cells to the major histocompatibility complex class I antigen-presenting machinery. In addition, once activated and having sensed viral moieties or T helper cell cooperation via CD40-CD40L interactions, cDC1s provide key co-stimulatory ligands and cytokines to mount and sustain CD8 T cell immune responses.

Maize monoculture supported pre-Columbian urbanism in southwestern Amazonia.

The Casarabe culture (500-1400 CE), spreading over roughly 4,500 km of the monumental mounds region of the Llanos de Moxos, Bolivia, is one of the clearest examples of urbanism in pre-Columbian (pre-1492 CE) Amazonia. It exhibits a four-tier hierarchical settlement pattern, with hundreds of monumental mounds interconnected by canals and causeways. Despite archaeological evidence indicating that maize was cultivated by this society, it is unknown whether it was the staple crop and which type of agricultural farming system was used to support this urban-scale society.

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.

Ion beam induced secondary electron tomography of acrylonitrile-styrene-acrylate/polycarbonate polymer blends for fused filament fabrication and injection moulding.

Polymer blending is an interesting strategy to broaden the combination of properties available for a variety of applications. To understand the behaviour of the new materials obtained as well as the influence of the fabrication parameters used, methods to analyse the distribution of polymers in the blend with resolution below the micrometer are required. In this work, we demonstrate the capability of focused ion beam (FIB) tomography to provide 3D information of the polymer distribution in objects obtained by blending acrylonitrile-styrene-acrylate (ASA) with polycarbonate (PC) (50 wt%), fabricated by Fused Filament Fabrication (FFF) and by Injection Moulding (IM).