Impact of Hospital Volume on Survival for Pediatric Wilms Tumor.

Background: Treatment for children with Wilms tumor (WT) is multidisciplinary, often including surgery, chemotherapy, and sometimes radiation therapy. High-volume hospitals (HVH) have been associated with improved outcomes in cancer care. Our study evaluates the association of hospital volume and survival outcomes in pediatric WT management.

Cervical Spinal Epidural Abscess From Haemophilus influenzae in an Adult: A Case Report.

Pyogenic spinal infections due to  ()are rare. After a search of the literature, we deemed our case to be the first description of spinal epidural abscess (SEA) from . This is a 74-year-old female patient with a history of diabetes who presented to the emergency department with fever and persistent paracervical pain after being initially diagnosed with viral sinusitis two days prior.

Gold Nanoprism Enhanced SERS Aptasensor for Simultaneous Detection of Thrombin and VEGF.

Sensitive detection of disease-specific biomarkers with high accuracy is crucial for early diagnosis, therapeutic monitoring, and understanding underlying pathological mechanisms. Traditional methods, such as immunohistochemistry and enzyme-linked immunosorbent assays (ELISA), face limitations due to the complex and expensive production of antibodies. In this context, aptamers, short oligonucleotides with advantages like easy synthesis, low cost, high specificity, and stability, have emerged as promising alternatives for biomolecular sensing.

Resolution of selective fetal growth restriction after laser surgery for twin-to-twin transfusion syndrome can be predicted by predisease growth discordance.

Objective: To determine if the resolution of fetal growth discordance after laser surgery in pregnancies with twin-to-twin transfusion syndrome (TTTS) and coexisting selective fetal growth restriction (sFGR) can be predicted by estimated fetal weight (EFW) discordance recorded prior to the development of TTTS (pre-TTTS).

Methods: This was a single-center, retrospective analysis of prospectively collected data on monochorionic twins with concurrent TTTS and sFGR that underwent laser surgery and had available growth ultrasound records from a pre-TTTS ultrasound evaluation. Maternal demographics, pregnancy characteristics and birth outcomes were compared between three outcome groups: double twin survival with resolved sFGR determined by birth weight discordance (BWD) < 20%; double twin survival with ongoing sFGR determined by BWD ≥ 20%; and single or double fetal demise after laser surgery.

Semi-rational engineering of 7β-hydroxysteroid dehydrogenase enhances forward reaction activity towards ursodeoxycholic acid synthesis.

7β-Hydroxysteroid dehydrogenase (7β-HSDH) catalyzes the reversible reaction between 7-ketolithocholic acid (7K-LCA) and ursodeoxycholic acid (UDCA). However, its much lower forward reaction activity led to the unsatisfactory UDCA production. Here, by autodocking 7K-LCA and UDCA into the structure of Hyphomicrobium sp.

Preserved Ratio Impaired Spirometry (PRISm) Prevalence, Risk Factors, and Outcomes: A Systematic Review and Meta-Analysis.

Background: The prevalence of chronic respiratory diseases is increasing globally. There is evidence that those with spirometric impairment, and no evidence of obstruction, termed preserved ratio impaired spirometry (PRISm), have increased risk of morbidity and mortality, compared to those with normal lung function. There remain several gaps in characterizing PRISm.

Deep learning predicts DNA methylation regulatory variants in specific brain cell types and enhances fine mapping for brain disorders.

DNA methylation (DNAm) is essential for brain development and function and potentially mediates the effects of genetic risk variants underlying brain disorders. We present INTERACT, a transformer-based deep learning model to predict regulatory variants affecting DNAm levels in specific brain cell types, leveraging existing single-nucleus DNAm data from the human brain. We show that INTERACT accurately predicts cell type-specific DNAm profiles, achieving an average area under the receiver operating characteristic curve of 0.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Research priorities for improving cognitive and neuropsychological outcomes in hydrocephalus.

Hydrocephalus is a neurological disorder that impacts approximately 85 per 100,000 individuals worldwide and is associated with motor and cognitive impairments. While many advances in surgical interventions have helped substantially improve the survival rates and quality of life of those affected, there continues to be significant gaps in our understanding of the etiology of this heterogeneous condition as well as its specific neuropsychological and functional challenges across different phases of life. To address these limitations, the Hydrocephalus Association and Rudi Schulte Research Institute organized a workshop titled, "Improving Cognitive and Psychological Outcomes in Hydrocephalus", composed of top academics in the fields of hydrocephalus, cognition, and neuropsychology, as well as individuals with hydrocephalus or their caregivers.

Video Game Therapy in a Neurosciences Critical Care Unit: A Pilot Study.

Background: Therapeutic activity after stroke is a component of early recovery strategies. Interactive video games have been shown to be safe as an adjunct rehabilitation therapy in the medical intensive care setting, but patients with neurologic disease were often excluded from those protocols.

Objectives: To evaluate the feasibility and safety of individualized interactive video game therapy in critically ill neurologic patients.

Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

Background: Vosoritide is a C-type natriuretic peptide analog that addresses an underlying pathway causing reduced bone growth in achondroplasia. Understanding the vosoritide treatment effect requires evaluation over an extended duration and comparison with outcomes in untreated children.

Methods: After completing ≥6 months of a baseline observational growth study and 52 weeks in a double-blind, placebo-controlled study (ClinicalTrials.

MRI free water mediates the association between diffusion tensor image analysis along the perivascular space and executive function in four independent middle to aged cohorts.

Introduction: Diffusion tensor image analysis along the perivascular space (DTI-ALPS) index was proposed for assessing glymphatic clearance function. This study evaluated DTI-ALPS as a biomarker for cerebral small vessel disease (cSVD) related vascular cognitive impairment and dementia (VCID).

Methods: Four independent cohorts were examined.

Uncovering Astrocyte Morphological Dynamics Using Optical Diffraction Tomography and Shape-Based Trajectory Inference.

Astrocytes, integral components of the central nervous system, are increasingly recognized for their multifaceted roles beyond support cells. Despite their acknowledged importance, understanding the intricacies of astrocyte morphological dynamics remains limited. Our study marks the first exploration of astrocytes using optical diffraction tomography (ODT), establishing a label-free, quantitative method to observe morphological changes in astrocytes over a 7-day in-vitro period.

Healthcare providers intentions to use an electronic personal health record for undocumented migrants: A qualitative exploration study in The Netherlands.

Electronic Personal Health Records (EPHRs) are potentially effective tools for improving the continuity and quality of care for migrants and refugees, and specifically for undocumented migrants (UDMs). However, little is known about the intention and preconditions of healthcare providers (HCPs) to use an EPHR for UDM in the Netherlands. Between April 2023 and June 2023, thirteen interviews, using a semi-structured topic guide, were conducted with Dutch HCPs.

Characterizing Patients with ypT0N1 Gastric Adenocarcinoma Within the AJCC Staging System.

Introduction: The standard of care for gastric cancer in the United States involves perioperative chemotherapy. While most post-therapy pathologic staging results are concordant (i.e.

Defects in hair cells disrupt the development of auditory peripheral circuitry.

Deafness is the most common form of sensory impairment in humans and frequently caused by defects in hair cells of the inner ear. Here we demonstrate that in male mice which model recessive non-syndromic deafness (DFNB6), inactivation of Tmie in hair cells disrupts gene expression in the neurons that innervate them. This includes genes regulating axonal pathfinding and synaptogenesis, two processes that are disrupted in the inner ear of the mutant mice.

In vivo imaging of glycogen in human muscle.

Probing regional glycogen metabolism in humans non-invasively has been challenging due to a lack of sensitive approaches. Here we studied human muscle glycogen dynamics post-exercise with a spatial resolution of millimeters and temporal resolution of minutes, using relayed nuclear Overhauser effect (glycoNOE) MRI. Data at 5T showed a homogeneous distribution of glycogen in resting muscle, with an average concentration of 99 ± 13 mM.

Light-dependent modulation of protein localization and function in living bacteria cells.

Most bacteria lack membrane-enclosed organelles and rely on macromolecular scaffolds at different subcellular locations to recruit proteins for specific functions. Here, we demonstrate that the optogenetic CRY2-CIB1 system from Arabidopsis thaliana can be used to rapidly direct proteins to different subcellular locations with varying efficiencies in live Escherichia coli cells, including the nucleoid, the cell pole, the membrane, and the midcell division plane. Such light-induced re-localization can be used to rapidly inhibit cytokinesis in actively dividing E.

A sample size analysis of a mathematical model of longitudinal tumor volume and progression-free survival for Bayesian individual dynamic predictions in recurrent high-grade glioma.

Patients with recurrent high-grade glioma (rHGG) have a poor prognosis with median progression-free survival (PFS) of <7 months. Responses to treatment are heterogenous, suggesting a clinical need for prognostic models. Bayesian data analysis can exploit individual patient follow-up imaging studies to adaptively predict the risk of progression.

Autologous Fascia Nerve Wrap in a Rodent Primary Epineurial Repair Model and Preliminary Case Series.

Background: Nerve wraps composed of various autologous and bioengineered materials have been used to bolster nerve repair sites. In this study, we describe the novel use of autologous fascia nerve wraps (AFNW) as an adjunct to epineurial repair and evaluate their effect on inflammatory cytokine expression, intraneural collagen deposition and end-organ reinnervation in rats and use of AFNW in a patient case series.

Methods: Lewis rats received sciatic transection with repair either with or without AFNW, sciatic-to-common peroneal nerve transfer with or without AFNW, or sham surgery (n=14/group).