A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.

The association of perceived health status and presence of chronic conditions with physical activity in childhood cancer survivors.

Purpose: Childhood cancer survivors (CCS) are at risk for therapy-related late effects. Physical activity (PA) can minimize some late effects risk, but rates of PA are low in CCS. We aimed to determine how perception of survivor health status and presence of chronic conditions are associated with patient- or proxy-reported PA.

Decoding the functional impact of the cancer genome through protein-protein interactions.

Acquisition of genomic mutations enables cancer cells to gain fitness advantages under selective pressure and, ultimately, leads to oncogenic transformation. Interestingly, driver mutations, even within the same gene, can yield distinct phenotypes and clinical outcomes, necessitating a mutation-focused approach. Conversely, cellular functions are governed by molecular machines and signalling networks that are mostly controlled by protein-protein interactions (PPIs).

Spaceflight alters protein levels and gene expression associated with stress response and metabolic characteristics in human cardiac spheroids.

Cardiomyocytes derived from human induced pluripotent stem cells (hiPSC-CMs) possess tremendous advantage for cardiac regeneration. However, cell survival is challenging upon cell transplantation. Since microgravity can profoundly affect cellular properties, we investigated the effect of spaceflight on hiPSC-CMs.

A Kinetic Enhanced Tuck Jump Assessment Exposes Residual Biomechanical Deficits in Female Athletes 9 Months Post Anterior Cruciate Ligament Reconstruction.

Kember, LS, Riehm, CD, Schille, A, Slaton, JA, Myer, GD, and Lloyd, RS. Residual biomechanical deficits identified with the tuck jump assessment in female athletes 9 months after ACLR surgery. J Strength Cond Res 38(12): 2065-2073, 2024-Addressing biomechanical deficits in female athletes after anterior cruciate ligament reconstruction (ACLR) is crucial for safe return-to-play.

High-resolution national radon maps based on massive indoor measurements in the United States.

Radon, a common radioactive indoor air pollutant, is the second leading cause of lung cancer in the United States. Knowledge about its distribution is essential for risk assessment and designing efficient protective regulations. However, the three current radon maps for the United States are unable to provide the up-to-date, high-resolution, and time-varying radon concentrations.

A Kinetic Enhanced Tuck Jump Assessment Exposes Residual Biomechanical Deficits in Female Athletes 9 Months Post Anterior Cruciate Ligament Reconstruction.

Kember, LS, Riehm, CD, Schille, A, Slaton, JA, Myer, GD, and Lloyd, RS. Residual biomechanical deficits identified with the tuck jump assessment in female athletes 9 months after ACLR surgery. J Strength Cond Res XX(X): 000-000, 2024-Addressing biomechanical deficits in female athletes after anterior cruciate ligament reconstruction (ACLR) is crucial for safe return-to-play.

A Hospital Resource for Nurses Navigating Doctoral Education and Beyond.

Advancing nursing practice to improve care and system outcomes requires doctoral-prepared nurses to conduct programs of research and translate science to practice. The authors describe a Doctoral support group (DSG) at one hospital designed to support nurses considering and navigating doctoral education while continuing as hospital employees. Strategies from 18 years' experience are provided for others to develop and sustain a DSG as part of an environment to support and retain nurses with doctoral degrees.

Advancing Principled Pharmacoepidemiologic Research to Support Regulatory and Healthcare Decision Making: The Era of Real-World Evidence.

A compilation of factors over the past decade-including the availability of increasingly large and rich healthcare datasets, advanced technologies to extract unstructured information from health records and digital sources, advancement of principled study design and analytic methods to emulate clinical trials, and frameworks to support transparent study conduct-has ushered in a new era of real-world evidence (RWE). This review article describes the evolution of the RWE era, including pharmacoepidemiologic methods designed to support causal inferences regarding treatment effects, the role of regulators and other health authorities in establishing distributed real-world data networks enabling analytics at scale, and the many global guidance documents on principled methods of producing RWE. This article also highlights the growing opportunity for RWE to support decision making by regulators, health technology assessment groups, clinicians, patients, and other stakeholders and provides examples of influential RWE studies.

Optimizing Exposure Measures in Large-Scale Household Air Pollution Studies: Results from the Multicountry HAPIN Trial.

Repeated measurements of household air pollution may provide better estimates of average exposure but can add to costs and participant burden. In a randomized trial of gas versus biomass cookstoves in four countries, we took supplemental personal 24-h measurements on a 10% subsample for mothers and infants, interspersed between protocol samples. Mothers had up to five postrandomization protocol measurements over 16 months, while infants had three measurements over one year.

Beyond the binary: Inferential challenges and solutions in cognitive archaeology.

We welcome Stibbard-Hawkes's empirical contributions and discussion of interpretive challenges for archaeology, but question some of his characterizations and conclusions. Moving beyond critique, it is time to develop new research methods that eschew simplistic modern/premodern binaries. We advocate an inductive, probabilistic approach using multiple lines of evidence to infer the causes and consequences of behavioral variability across time and space.

Exposure Contrasts of Women Aged 40-79 Years during the Household Air Pollution Intervention Network Randomized Controlled Trial.

Exposure to household air pollution has been linked to adverse health outcomes among women aged 40-79. Little is known about how shifting from biomass cooking to a cleaner fuel like liquefied petroleum gas (LPG) could impact exposures for this population. We report 24-h exposures to particulate matter (PM), black carbon (BC), and carbon monoxide (CO) among women aged 40 to <80 years participating in the Household Air Pollution Intervention Network trial.

Environmental Exposures Associated with Enteropathogen Infection in Six-Month-Old Children Enrolled in the ECoMiD Cohort along a Rural-Urban Gradient in Northern Ecuador†.

Enteropathogens are major contributors to mortality and morbidity, particularly in settings with limited access to water, sanitation, and hygiene infrastructure. To assess transmission pathways associated with enteropathogen infection, we measured household environmental conditions and assayed 22 enteropathogens using TaqMan Array Cards in stool samples from 276 six-month-old children living in communities along a rural-urban gradient in Northern Ecuador. We utilized multivariable models, risk factor importance, and distance-based statistical methods to test factors associated with infection.

Percutaneous Mechanical Aspiration for Infective Endocarditis: Proceedings From an Inaugural Multidisciplinary Summit and Comprehensive Review.

The clinical presentation and epidemiology of infective endocarditis (IE) have evolved over time. While the cornerstones of IE treatment remain antimicrobial therapy and surgery, percutaneous mechanical aspiration (PMA) has emerged as an option for carefully selected patients as a complementary modality, based on retrospective data, case series, and expert experience. In this comprehensive review, we summarize the proceedings from an inaugural summit dedicated to the discussion of PMA in the global management of IE, consisting of experts across multiple disciplines from diverse geographic regions and care environments.

Systematic Review and Meta-Analysis of the Super High-Pressure Balloon (SIS-OPN) for Percutaneous Coronary Intervention.

Introduction: The super high-pressure NC balloon (OPN NC; SIS Medical AG, Winterthur, Switzerland) is increasingly used in percutaneous coronary intervention (PCI). We performed a systematic review and meta-analysis of its efficacy and safety.

Methods: A systematic review was conducted using PubMed and the Cochrane Library to identify studies using the OPN NC balloon in PCI.

Impact of hyper- and hypothermia on cellular and whole-body physiology.

The incidence of heat-related illnesses and heatstroke continues to rise amidst global warming. Hyperthermia triggers inflammation, coagulation, and progressive multiorgan dysfunction, and, at levels above 40 °C, can even lead to cell death. Blood cells, particularly granulocytes and platelets, are highly sensitive to heat, which promotes proinflammatory and procoagulant changes.

Prevalence and Predictors of Overweight and Obesity Among School-Aged Children in the Country of Georgia: A Cross-Sectional Study, 2022.

Background: Childhood overweight and obesity are significant global public health challenges that affect approximately 340 million children worldwide. In Georgia, the prevalence of childhood obesity is alarming, with approximately 28% of 7-year-old children classified as overweight or obese in 2019. This study aimed to investigate the key factors associated with overweight and obesity among school-age children in Georgia.

Mitochondrial dysfunction is a major cause of thromboinflammation and inflammatory cell death in critical illnesses.

Background: Mitochondria generate the adenosine triphosphate (ATP) necessary for eukaryotic cells, serving as their primary energy suppliers, and contribute to host defense by producing reactive oxygen species. In many critical illnesses, including sepsis, major trauma, and heatstroke, the vicious cycle between activated coagulation and inflammation results in tissue hypoxia-induced mitochondrial dysfunction, and impaired mitochondrial function contributes to thromboinflammation and cell death.

Methods: A computer-based online search was performed using the PubMed and Web of Science databases for published articles concerning sepsis, trauma, critical illnesses, cell death, mitochondria, inflammation, coagulopathy, and organ dysfunction.

Congress of Neurological Surgeons systematic review and evidence-based guidelines for the role of surgery in the management of patients with diffuse low grade glioma: update.

Target populationAdults with imaging suggestive of a WHO grade II diffuse gliomas (oligodendrogliomas or astrocytomas)QuestionIn adults with imaging suggestive of a WHO grade II diffuse gliomas (oligodendrogliomas or astrocytomas), does surgical resection improve overall survival compared to observation or biopsy?Updated Recommendation from the Prior Version of These Guidelines:Level III: In adults with imaging suggestive of a WHO grade II diffuse gliomas (oligodendrogliomas or astrocytomas), surgical resection is suggested over observation or biopsy to improve overall survival.Question Q2In adults with imaging suggestive of a WHO grade II diffuse gliomas (oligodendrogliomas or astrocytomas), does maximal surgical resection improve progression free survival (PFS) and overall survival (OS) compared to subtotal resection/biopsy?Unchanged Recommendations from the Prior Version of These GuidelinesLevel II It is recommended that GTR or STR be accomplished instead of biopsy alone when safe and feasible so as to decrease the frequency of tumor progression recognizing that the rate of progression after GTR is fairly high.Level III Greater extent of resection can improve OS in WHO grade II diffuse gliomas patients.

Prognostic, biological, and structural implications of FLT3-JMD point mutations in acute myeloid leukemia: an analysis of Alliance studies.

The FLT3 gene frequently undergoes mutations in acute myeloid leukemia (AML), with internal tandem duplications (ITD) and tyrosine kinase domain (TKD) point mutations (PMs) being most common. Recently, PMs and deletions in the FLT3 juxtamembrane domain (JMD) have been identified, but their biological and clinical significance remains poorly understood. We analyzed 1660 patients with de novo AML and found FLT3-JMD mutations, mostly PMs, in 2% of the patients.

Action inflexibility and compulsive-like behavior accompany neurobiological alterations in the anterior orbitofrontal cortex and associated striatal nuclei.

The orbitofrontal cortex (OFC) is a large cortical structure, expansive across anterior-posterior axes. It is essential for flexibly updating learned behaviors, and paradoxically, also implicated in inflexible and compulsive-like behaviors. Here, we investigated mice bred to display inflexible reward-seeking behaviors that are insensitive to action consequences.

A Subtype Specific Probe for Targeted Magnetic Resonance Imaging of M2 Tumor-Associated Macrophages in Brain Tumors.

Pro-tumoral M2 tumor-associated macrophages (TAMs) play a critical role in the tumor immune microenvironment (TIME), making them an important therapeutic target for cancer treatment. Approaches for imaging and monitoring M2 TAMs, as well as tracking their changes in response to tumor progression or treatment are highly sought-after but remain underdeveloped. Here, we report an M2-targeted magnetic resonance imaging (MRI) probe based on sub-5 nm ultrafine iron oxide nanoparticles (uIONP), featuring an anti-biofouling coating to prevent non-specific macrophage uptake and an M2-specific peptide ligand (M2pep) for active targeting of M2 TAMs.

Effect of the thinking healthy programme-based internet intervention model for maternal perinatal depression: A pilot study.

Background: Thinking Healthy Programme (THP) is an evidence-based psychosocial intervention that can be delivered by non-psychologists and does not require the implementer to have a mental health background or field experience. The THP has been tested in maternal health in many countries. However, the application of the THP model in Chinese maternal and child health has not been reported.