DPAGT1-CDG is a Congenital Disorder of Glycosylation (CDG) that lacks effective therapies. It is caused by mutations in the gene DPAGT1 which encodes the first enzyme in N-linked glycosylation. We used a Drosophila rough eye model of DPAGT1-CDG with an improperly developed, small eye phenotype.
View Article and Find Full Text PDFAdults with intellectual disabilities in community residential programs receive services from direct support professionals (DSPs) intended to facilitate community engagement. As part of a rate study for Washington State's Developmental Disabilities Administration on community residential services, adults in these programs were asked to provide their perspective on the quality and effectiveness of their care. Twenty-five adults with intellectual disabilities were interviewed focusing on daily activities, staffing, and living situations.
View Article and Find Full Text PDFIntroduction: Nonoperative management (NOM) of uncomplicated appendicitis is increasingly common. Effectiveness of NOM has been studied by identifying patients via International Classification of Diseases (ICD) 9/ICD-10 codes for uncomplicated appendicitis and no code for appendectomy. We sought to assess the accuracy of such administrative definitions.
View Article and Find Full Text PDFRib fractures commonly result from traumatic injury and often require hospitalization for pain control and supportive pulmonary care. Although the use of mobile health technology to share patient-generated health data has increased, it remains limited in patients with traumatic injuries. We sought to assess the feasibility of mobile health tracking in patients with rib fractures by using a smartphone app to monitor postdischarge recovery.
View Article and Find Full Text PDFThe developing peripheral nervous and immune systems are functionally distinct from those of adults. These systems are vulnerable to early-life injury, which influences outcomes related to nociception following subsequent injury later in life (i.e.
View Article and Find Full Text PDFBackground: Resilience, in the field of Resilience Engineering, has been identified as the ability to maintain the safety and the performance of healthcare systems and is aligned with the resilience potentials of anticipation, monitoring, adaptation, and learning. In early 2020, the COVID-19 pandemic challenged the resilience of US healthcare systems due to the lack of equipment, supply interruptions, and a shortage of personnel. The purpose of this qualitative research was to describe resilience in the healthcare team during the COVID-19 pandemic with the healthcare team situated as a cognizant, singular source of knowledge and defined by its collective identity, purpose, competence, and actions, versus the resilience of an individual or an organization.
View Article and Find Full Text PDFis a dimorphic fungal pathogen acquired via inhalation of soil-resident spores. Upon exposure to mammalian body temperatures, these fungal elements transform into yeasts that reside primarily within phagocytes. Macrophages (MΦ) provide a permissive environment for fungal replication until T cell-dependent immunity is engaged.
View Article and Find Full Text PDFSurgeons in their daily practice are at the forefront in preventing and managing infections. However, among surgeons, appropriate measures of infection prevention and management are often disregarded. The lack of awareness of infection and prevention measures has marginalized surgeons from this battle.
View Article and Find Full Text PDFUnlabelled: is a dimorphic fungal pathogen acquired via inhalation of soil-resident spores. Upon exposure to mammalian body temperatures, these fungal elements transform into yeasts that reside primarily within phagocytes. Macrophages (MΦ) provide a permissive environment for fungal replication until T cell-dependent immunity is engaged.
View Article and Find Full Text PDFImportance: Spanish-speaking participants are underrepresented in clinical trials, limiting study generalizability and contributing to ongoing health inequity. The Comparison of Outcomes of Antibiotic Drugs and Appendectomy (CODA) trial intentionally included Spanish-speaking participants.
Objective: To describe trial participation and compare clinical and patient-reported outcomes among Spanish-speaking and English-speaking participants with acute appendicitis randomized to antibiotics.
Background: Cascade screening, defined as helping at-risk relatives get targeted genetic testing of familial variants for dominant hereditary cancer syndromes, is a proven component of cancer prevention; however, its uptake is low. We developed and conducted a pilot study of the ConnectMyVariant intervention, in which participants received support to contact at-risk relatives that extended beyond first-degree relatives and encourage relatives to obtain genetic testing and connect with others having the same variant through email and social media. The support that participants received included listening to participants' needs, assisting with documentary genealogy to find common ancestors, facilitating direct-to-consumer DNA testing and interpretation, and assisting with database searches.
View Article and Find Full Text PDFSurg Clin North Am
April 2023
The adoption of digital health services in surgical care delivery is changing the patient experience. The goal of patient-generated health data monitoring incorporated with patient-centered education and feedback is to optimally prepare patients for surgery and personalize postoperative care to improve outcomes that matter to both patients and surgeons. Challenges include the need for the adoption of new methods for implementation and evaluation and equitable application of surgical digital health interventions, with considerations for accessibility as well as the development of new diagnostics and decision support that include the needs and characteristics of all populations served.
View Article and Find Full Text PDFObjective: To summarize state-of-the-art artificial intelligence-enabled decision support in surgery and to quantify deficiencies in scientific rigor and reporting.
Background: To positively affect surgical care, decision-support models must exceed current reporting guideline requirements by performing external and real-time validation, enrolling adequate sample sizes, reporting model precision, assessing performance across vulnerable populations, and achieving clinical implementation; the degree to which published models meet these criteria is unknown.
Methods: Embase, PubMed, and MEDLINE databases were searched from their inception to September 21, 2022 for articles describing artificial intelligence-enabled decision support in surgery that uses preoperative or intraoperative data elements to predict complications within 90 days of surgery.
The developing peripheral nervous and immune systems are functionally distinct from adults. These systems are vulnerable to early life injury, which influences outcomes related to nociception following subsequent injury later in life (neonatal nociceptive priming). The underpinnings of this phenomenon are largely unknown, although previous work indicates that macrophages are epigenetically trained by inflammation and injury.
View Article and Find Full Text PDFBackground: In 2020, a multidose human-milk fortifier (MDHMF) was designed to improve the process of human-milk (HM) fortification. The bottle of MDHMF (5.5 oz, 163 ml) allows aseptic removal of HMF in a precise measure.
View Article and Find Full Text PDFOpen fractures, defined as fractures communicating with the environment through a skin wound, cause substantial morbidity after traumatic injury. Current evidence supports administration of prophylactic systemic antibiotic agents to patients with open extremity fractures to decrease infectious complications. The Therapeutic and Guidelines Committee of The Surgical Infection Society convened to revise guidelines for antibiotic use in open fractures.
View Article and Find Full Text PDFImportance: A patient's belief in the likely success of a treatment may influence outcomes, but this has been understudied in surgical trials.
Objective: To examine the association between patients' baseline beliefs about the likelihood of treatment success with outcomes of antibiotics for appendicitis in the Comparison of Outcomes of Antibiotic Drugs and Appendectomy (CODA) trial.
Design, Setting, And Participants: This was a secondary analysis of the CODA randomized clinical trial.
Background: Addressing issues of diversity, equity, and inclusion (DEI) has become central in implementing inclusive and socially responsible rehabilitation education and clinical practice. Yet, the constructs of disability and d/Deaf identity and culture, as well as ableism and allyship are often overlooked. Or, these concepts are approached using outdated philosophical perspectives that pathologize disability and fail to prioritize the lived experiences, expertise, intersectionality, and self-identified needs of people with disabilities.
View Article and Find Full Text PDFObjective: We critically evaluated the surgical literature to explore the prevalence and describe how equity assessments occur when using clinical decision support systems.
Background: Clinical decision support (CDS) systems are increasingly used to facilitate surgical care delivery. Despite formal recommendations to do so, equity evaluations are not routinely performed on CDS systems and underrepresented populations are at risk of harm and further health disparities.
Importance: For adults with appendicitis, several randomized clinical trials have demonstrated that antibiotics are an effective alternative to appendectomy. However, it remains unknown how the characteristics of patients in such trials compare with those of patients who select their treatment and whether outcomes differ.
Objective: To compare participants in the Comparison of Outcomes of Antibiotic Drugs and Appendectomy (CODA) randomized clinical trial (RCT) with a parallel cohort study of participants who declined randomization and self-selected treatment.