Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.

Methane emissions from the Nord Stream subsea pipeline leaks.

The amount of methane released to the atmosphere from the Nord Stream subsea pipeline leaks remains uncertain, as reflected in a wide range of estimates. A lack of information regarding the temporal variation in atmospheric emissions has made it challenging to reconcile pipeline volumetric (bottom-up) estimates with measurement-based (top-down) estimates. Here we simulate pipeline rupture emission rates and integrate these with methane dissolution and sea-surface outgassing estimates to model the evolution of atmospheric emissions from the leaks.

Exploring the role of volume energy density in altering microstructure and corrosion behavior of nitinol alloys produced by laser powder bed fusion.

In the realm of materials science and engineering, the pursuit of advanced materials with tailored properties has been a driving goal behind technological progress. Scientific interest in laser powder bed fusion (L-PBF) fabricated NiTi alloy has in recent times seen an upsurge of activity. In this study, we investigate the impact of varying volume energy density (VED) during L-PBF on the microstructure and corrosion behaviour of NiTi alloys in both scan (XY) and built (XZ) planes.

Associations between potential risk factors and blood-brain barrier water permeability in middle-aged and older adults.

Blood-brain barrier (BBB) dysfunction is suggested to be a potential mediator between vascular risk factors and cognitive impairment, leading to vascular cognitive impairment. To investigate the relationships between age, sex, and vascular risk factors and BBB water permeability as well as their relationship with cognition. To measure BBB permeability, a novel arterial spin labelling MRI technique (ME-ASL) was applied to derive the time of exchange (Tex), arterial time transit (ATT), and cerebral blood flow (CBF).

Surgical Bailout in Patients Undergoing Transfemoral Transcatheter Aortic Valve Replacement: Incidence, Trends, and Clinical Outcomes.

Background: Transcatheter aortic valve replacement (TAVR) harbors the risk of periprocedural complications that require emergent cardiac surgery, or "surgical bailout." Surgical bailout intends to be lifesaving but is associated with high mortality. This has given rise to discussion on the necessity of surgical backup during TAVR.

Initial Decline in Glomerular Filtration Rate With Finerenone in HFmrEF/HFpEF: A Prespecified Analysis of FINEARTS-HF.

Background: An initial decline in estimated glomerular filtration rate (eGFR) often leads to reluctance to continue life-saving therapies in patients with heart failure (HF).

Objectives: The goal of this study was to describe the association between initial decline in eGFR and subsequent clinical outcomes in patients randomized to placebo or finerenone.

Methods: In this prespecified analysis of FINEARTS-HF (Finerenone Trial to Investigate Efficacy and Safety Superior to Placebo in Patients with Heart Failure), we examined the association between initial decline in eGFR (≥15%) from randomization to 1 month and subsequent outcomes in patients assigned to finerenone or placebo.

The impact of neoadjuvant therapy in patients with left-sided resectable pancreatic cancer: an international multicenter study.

Purpose: To assess the association between neoadjuvant therapy and overall survival (OS) in patients with left-sided resectable pancreatic cancer (RPC) compared to upfront surgery.

Background: Left-sided pancreatic cancer is associated with worse OS compared to right-sided pancreatic cancer. Although neoadjuvant therapy is currently seen as not effective in patients with RPC, current randomized trials included mostly patients with right-sided RPC.

Assessing the role of spatial aggregation schemes with varying campaign durations of mobile measurements on land use regression models for estimating nitrogen dioxide.

Mobile air pollution measurements are typically aggregated by varying road segment lengths, grid cell sizes, and time intervals. How these spatiotemporal aggregation schemas affect the modeling performance of land use regression models has seldom been assessed. We used 5.

Demographic and clinical predictors of response and remission in the treatment of major depressive disorder with ketamine and esketamine: A systematic review.

Accumulating evidence supports the efficacy of (es)ketamine in the treatment of major depressive disorder (MDD), particularly treatment-resistant depression (TRD). Yet around 50% of the individuals with TRD do not respond to (es)ketamine. Elucidating predictors of response and remission could improve treatment outcomes at the individual level by defining subpopulations that are most likely to benefit from (es)ketamine.

A cross-sectional network analysis of successful aging in a resilience-based framework.

Aging inevitably gives rise to many challenges and transitions that can greatly impact our (mental) well-being and quality of life if these are not controlled adequately. Hence, the key to successful aging may not be the absence of these stressors, but the ability to demonstrate resilience against them. The current study set out to explore how resilience and successful aging may intersect by investigating how various resilience capacity-promoting (protective) and resilience capacity-reducing (risk) factors relate to mental well-being and quality of life.

Long-term survival of participants in the PASART-1 and PASART-2 trials of neo-adjuvant pazopanib and radiotherapy in soft tissue sarcoma.

Objective: This study aims to assess the long-term safety and efficacy of adding pazopanib to neo-adjuvant radiotherapy followed by surgery in patients with high-risk non-metastatic soft tissue sarcoma of the trunk and extremities treated in the PASART-1 and PASART-2 trials, as well as to compare the PASART cohorts to a control cohort receiving standard treatment during the same time period from the Netherlands Cancer Registry (IKNL) to investigate if adding pazopanib improves Overall Survival (OS).

Methods: Updated follow-up data on disease control, survival and long-term toxicities of the PASART-trials were extracted from electronic patient records. The effect of adding pazopanib to neo-adjuvant radiotherapy on OS was investigated by comparing the combined PASART cohorts to the IKNL cohort via direct comparison and exact matching analysis.

Natural Organic Matter Stabilizes Pristine Nanoplastics but Destabilizes Photochemical Weathered Nanoplastics in Monovalent Electrolyte Solutions.

Photochemical weathering and eco-corona formation through natural organic matter (NOM) adsorption play vital roles in the aggregation tendencies of nanoplastics (NPs) in aquatic environments. However, it remains unclear how photochemical weathering alters the adsorption patterns of NOM and the conformation of the eco-corona, subsequently affecting the aggregation tendencies of NPs. This study examined the effect of Suwannee River NOM adsorption on the aggregation kinetics of pristine and photoaged polystyrene (PS) NPs in monovalent electrolyte solutions.

Gender Disparities and Lung Cancer Screening Outcomes Among Individuals Who Have Never Smoked.

Importance: Lung cancer in individuals who have never smoked (INS) is a growing global concern, with a rapidly increasing incidence and proportion among all lung cancer cases. Particularly in East Asia, opportunistic lung cancer screening (LCS) programs targeting INS have gained popularity. However, the sex-specific outcomes and drawbacks of screening INS remain unexplored, with data predominantly focused on women.

Explaining cognitive function in multiple sclerosis through networks of grey and white matter features: a joint independent component analysis.

Cognitive impairment (CI) in multiple sclerosis (MS) is only partially explained by whole-brain volume measures, but independent component analysis (ICA) can extract regional patterns of damage in grey matter (GM) or white matter (WM) that have proven more closely associated with CI. Pathology in GM and WM occurs in parallel, and so patterns can span both. This study assessed whether joint-ICA of GM and WM features better explained cognitive function compared to single-tissue ICA.

Cerebral vasculitis related to neurosarcoidosis: a case series and systematic literature review.

Cerebral vasculitis is a rare but severe manifestation of neurosarcoidosis (NS) that has received little attention. The aim of the present study was to characterize clinical and diagnostic features as well as potential treatment strategies of cerebral vasculitis related to NS. We assessed 29 patients with cerebral vasculitis related to NS (15 female, mean age at time of diagnosis 45 years, SD = 11.

Lack of intracranial atherosclerosis in various atherosclerotic mouse models.

Background: Although mice are used extensively to study atherosclerosis of different vascular beds, limited data is published on the occurrence of intracranial atherosclerosis. Since intracranial atherosclerosis is a common cause of stroke and is associated with dementia, a relevant animal model is needed to study these diseases.

Methods And Results: We examined the presence of intracranial atherosclerosis in different atherogenic mouse strains and studied differences in vessel wall characteristics in mouse and human tissue in search for possible explanations for the different atherosclerotic susceptibility between extracranial and intracranial vessels.

Protection of liver sinusoidal endothelial cells using different preservation solutions.

Objective: Donor liver preservation methods and solutions have evolved over the last years. Liver sinusoidal endothelial cell (LSEC) barrier function and integrity during preservation is crucial for outcomes of liver transplantation. Therefore, the present study aimed to determine optimal preservation of LSEC barrier function and integrity, using different preservation solutions.

Chronic Cerebral Deterioration - A Comprehensive View of Old-Age Cerebral Deterioration.

The current one-dimensional view of pathological brain changes in older persons leading to cognitive complaints, mild cognitive impairment, and ultimately dementia is incomplete. It neglects the earliest, non-cognitive, and multifaceted symptoms of gradually accumulating cerebral damage. Subtle personality changes, balance problems, muscle wasting, weight loss, changing sleep patterns and declining blood pressure and cholesterol, precede memory problems and cognitive impairment.

Plasma Proteomic Signature as a Predictor of Age Advancement in People Living With HIV.

Due to the increased burden of non-AIDS-related comorbidities in people living with HIV (PLHIV), identifying biomarkers and mechanisms underlying premature aging and the risk of developing age-related comorbidities is a priority. Evidence suggests that the plasma proteome is an accurate source for measuring biological age and predicting age-related clinical outcomes. To investigate whether PLHIV on antiretroviral therapy (ART) exhibit a premature aging phenotype, we profiled the plasma proteome of two independent cohorts of virally suppressed PLHIV (200HIV and 2000HIV) and one cohort of people without HIV (200FG) using O-link technology.

Global regulators enable bacterial adaptation to a phenotypic trade-off.

Cellular fitness depends on multiple phenotypes that must be balanced during evolutionary adaptation. For instance, coordinating growth and motility is critical for microbial colonization and cancer invasiveness. In bacteria, these phenotypes are controlled by local regulators that target single operons, as well as by global regulators that impact hundreds of genes.

Cost-effectiveness of follow-up algorithms for chronic thromboembolic pulmonary hypertension in pulmonary embolism survivors.

Introduction: Achieving an early diagnosis of chronic thromboembolic pulmonary hypertension (CTEPH) in pulmonary embolism (PE) survivors results in better quality of life and survival. Importantly, dedicated follow-up strategies to achieve an earlier CTEPH diagnosis involve costs that were not explicitly incorporated in the models assessing their cost-effectiveness. We performed an economic evaluation of 11 distinct PE follow-up algorithms to determine which should be preferred.

The effect of active exoskeleton support with different lumbar-to-hip support ratios on spinal musculoskeletal loading and lumbar kinematics during lifting.

While active back-support exoskeletons can reduce mechanical loading of the spine, current designs include only one pair of actuated hip joints combined with a rigid structure between the pelvis and trunk attachments, restricting lumbar flexion and consequently intended lifting behavior. This study presents a novel active exoskeleton including actuated lumbar and hip joints as well as subject-specific exoskeleton control based on a real-time active low-back moment estimation. We evaluated the effect of exoskeleton support with different lumbar-to-hip (L/H) support ratios on spine loading, lumbar kinematics, and back muscle electromyography (EMG).