Background: Use of pulmonary vein isolation (PVI) to treat atrial fibrillation continues to increase. Despite great interest in leveraging administrative data for real-world analyses, contemporary procedural codes for identifying PVI have not been evaluated.
Methods And Results: In this observational retrospective cohort study, inpatient PVIs were identified among US Medicare fee-for-service beneficiaries using Current Procedural Terminology (CPT) code 93656 in Carrier Line Files.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
December 2024
Purpose: To identify social determinants of health (SDOH) associated with follow-up attendance of pre-term infants with retinopathy of prematurity (ROP) after neonatal intensive care unit (NICU) discharge.
Methods: This retrospective cohort study, conducted at a single academic tertiary care center, included preterm infants screened for ROP from July 2018 to December 2022. Sociodemographic and clinical data were collected from a preexisting NICU database.
FLASH radiotherapy employs ultra-high dose rates of >40 Gy/s, which may reduce normal tissue complication as compared to conventional dose rate treatments, while still ensuring the same level of tumour control. The potential benefit this can offer to patients has been the cause of great interest within the radiation oncology community, but this has not translated to a direct understanding of the FLASH effect. The oxygen depletion and inter-track interaction hypotheses are currently the leading explanations as to the mechanisms behind FLASH, but these are still not well understood, with many questions remaining about the exact underpinnings of FLASH and the treatment parameters required to optimally induce it.
View Article and Find Full Text PDFACS Appl Mater Interfaces
January 2025
Free sialic acid storage disorder (FSASD) is a rare autosomal recessive lysosomal storage disease caused by pathogenic SLC17A5 variants with variable disease severity. We performed a multidisciplinary evaluation of an adolescent female with suspected lysosomal storage disease and conducted comprehensive studies to uncover the molecular etiology. The proband exhibited intellectual disability, a storage disease gestalt, and mildly elevated urine free sialic acid levels.
View Article and Find Full Text PDFIn the last decade, pulmonary fungal infections such as invasive pulmonary aspergillosis (IPA) have increased in incidence due to the increased number of immunocompromised individuals. This increase is especially problematic when considering mortality rates associated with IPA are upwards of 70%. This high mortality rate is due to, in part, the length of time it takes to diagnose a patient with IPA.
View Article and Find Full Text PDFBackground: Diaphorina citri is an insect vector of "Candidatus Liberibacter asiaticus" (CLas), the gram-negative bacterial pathogen associated with citrus greening disease. Control measures rely on pesticides with negative impacts on the environment, natural ecosystems, and human and animal health. In contrast, gene-targeting methods have the potential to specifically target the vector species and/or reduce pathogen transmission.
View Article and Find Full Text PDFPurpose: The immunosuppressive function of myeloid-derived suppressor cells (MDSCs) has been implicated in the regulation of immune responses against cancer and is associated with poor prognosis. Radiation treatment is known to alter immune cell populations within the tumor; however, whether this results in the recruitment of immunosuppressive MDSC populations is not well understood. Here we evaluate the response of circulating MDSC populations in patients treated per standard-of-care cisplatin chemoradiation therapy (CRT) for locally invasive cervical cancer.
View Article and Find Full Text PDFPediatric retinoblastoma survivors exhibit visual deficits. How these visual deficits impact reading skills is unknown. The purpose of this study is to assess reading level, reading acuity, and reading speed among retinoblastoma survivors.
View Article and Find Full Text PDFObjectives: Massachusetts signed into law An Act Modernizing Tobacco Control (hereinafter, the Act) in 2019, which restricted retail sales of flavored tobacco products, including menthol cigarettes. This study assessed differences in advertising exposure to flavored tobacco products among adolescents in Massachusetts compared with adolescents in 4 neighboring states after passage of the Act.
Methods: We collected monthly cross-sectional survey data from April 2021 through August 2022 among a convenience sample of adolescents (aged 13-17 y) in Massachusetts and 4 control states: Connecticut, New Hampshire, Rhode Island, and Vermont.
Broadly, individuals' cognitive abilities influence their academic skills, but the significance and strength of specific cognitive abilities varies across academic domains and may vary across age. Simultaneous analyses of data from many tests and cross-battery analyses can address inconsistent findings from prior studies by creating comprehensively defined constructs, which allow for greater generalizability of findings. The purpose of this study was to examine the cross-battery direct effects and developmental differences in youths' cognitive abilities on their basic reading abilities, as well as the relations between their reading and writing achievement.
View Article and Find Full Text PDFSusceptibility to inflammatory bowel diseases (IBDs), Crohn's disease (CD), and ulcerative colitis (UC) is linked with loss of intestinal epithelial barrier integrity and mitochondria dysfunction. Steroidogenic acute regulatory (StAR) protein-related lipid transfer (START) domain-containing protein 7 (STARD7) is a phosphatidylcholine-specific (PC-specific) lipid transfer protein that transports PC from the ER to the mitochondria, facilitating mitochondria membrane stabilization and respiration function. The aim of this study was to define the contribution of STARD7 in the regulation of the intestinal epithelial mitochondrial function and susceptibility to colitis.
View Article and Find Full Text PDFDeSanto-Shinawi (DESSH) syndrome is a rare autosomal dominant condition caused by pathogenic variants in the WAC gene. DESSH syndrome was first identified in 2015 in six patients, but has since been diagnosed in more than 200 individuals worldwide. Patients exhibit a variable degree of developmental delay (DD), intellectual disability (ID), hypotonia, gastrointestinal and eye abnormalities, epilepsy, behavioral difficulties, and recognizable facial features.
View Article and Find Full Text PDFBackground And Hypothesis: Clozapine is an effective yet underutilized treatment for treatment-resistant schizophrenia spectrum disorders. This study aimed to identify factors affecting clozapine prescribing patterns among patients with treatment-resistant schizophrenia and schizoaffective disorder at an academic medical center.
Study Design: This retrospective combined cohort and case-control study examined demographic, socioeconomic, medical and psychiatric characteristics to determine predictors of clozapine initiation.
An approach to improving radiation use efficiency (RUE) in wheat is to screen for variability in rates of leaf respiration in darkness (Rdark). We used a high-throughput system to quantify variation in Rdark among a diverse range of spring wheat genotypes (301 lines) grown in two countries (Mexico and Australia) and two seasons (2017 and 2018), and in doing so quantify the relative importance of genotype (G) and environment (E) in influencing variations in leaf Rdark. Through careful design, residual (unexplained) variation represented less than 10% of the total observed.
View Article and Find Full Text PDFBackground And Aims: Eosinophilic esophagitis (EoE) is associated with impaired health-related quality of life (HRQoL) and stigma perceptions. Therefore, we examined the real-world impact of EoE on the daily life and ability to function in adolescents (caregiver-reported) and adults with EoE in the United States of America in a noninterventional, cross-sectional, web-based survey.
Methods: HRQoL was assessed using the Short Form Health Survey (domains: vitality and social functioning) and the European Health Interview Survey (domain: sleep).
Methicillin-resistant (MRSA) is the leading cause of wound infections, often progressing into serious invasive bloodstream infections. MRSA disproportionately affects Indigenous peoples in Canada with higher rates of skin and wound infections, an example of persistent gaps in health outcomes between Indigenous and non-Indigenous peoples precipitated by the legacy of colonialism. Conversely, Indigenous peoples have long used natural remedies for infections and other diseases; however, their knowledge was rarely considered for modern medicine.
View Article and Find Full Text PDFPurpose: Community inclusion in research may increase the quality and relevance of research, but doing so in an equitable way is complex. Novel approaches used to build engagement with historically marginalized communities in other sectors may have relevance in the clinical research sector.
Method: To address long-standing gaps and challenges, a stakeholder group was convened to develop a theory of change (ToC), a structured method for obtaining input from stakeholders to enhance the design, conduct, and dissemination of research.
Introduction: In the last decade, hybrid linear accelerator magnetic resonance imaging (Linac-MR) devices have evolved into FDA-cleared clinical tools, facilitating magnetic resonance guided radiotherapy (MRgRT). The addition of a magnetic field to radiation therapy has previously demonstrated dosimetric and electron effects regardless of magnetic field orientation.
Purpose: This study uses Monte Carlo simulations to investigate the importance and efficacy of the magnetic field design in mitigating surface dose enhancement in the Aurora-RT, focusing specifically on contaminant electrons, their origin, and energy spectrum.
The E-cadherin-β-catenin-αE-catenin (cadherin-catenin) complex couples the cytoskeletons of neighboring cells at adherens junctions (AJs) to mediate force transmission across epithelia. Mechanical force and auxiliary binding partners converge to stabilize the cadherin-catenin complex's inherently weak binding to actin filaments (F-actin) through unclear mechanisms. Here we show that afadin's coiled-coil (CC) domain and vinculin synergistically enhance the cadherin-catenin complex's F-actin engagement.
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