Background: Maintaining the connection between skeletal muscle fibers and the surrounding basement membrane is essential for muscle function. Dystroglycan (DG) serves as a basement membrane extracellular matrix (ECM) receptor in many cells, and is also expressed in the outward-facing membrane, or sarcolemma, of skeletal muscle fibers. DG is a transmembrane protein comprised of two subunits: alpha-DG (α-DG), which resides in the peripheral membrane, and beta-DG (β-DG), which spans the membrane to intracellular regions.
View Article and Find Full Text PDFThe dystrophin glycoprotein complex (DGC) has a crucial role in maintaining cell membrane stability and integrity by connecting the intracellular cytoskeleton with the surrounding extracellular matrix. Dysfunction of dystrophin and its associated proteins results in muscular dystrophy, a disorder characterized by progressive muscle weakness and degeneration. Despite the important roles of the DGC in physiology and pathology, its structural details remain largely unknown, hindering a comprehensive understanding of its assembly and function.
View Article and Find Full Text PDFPolicies vary substantially in terms of providing sources of psychosocial enrichment. Behavioral economic models of substance use and addiction emphasize that deficits in access to substance-free sources of reward increase substance reinforcing value and risk for addiction. The current study used an alcohol demand curve approach to test the hypothesis that various indices of reward deprivation would be associated with elevated alcohol reinforcing efficacy.
View Article and Find Full Text PDFBackground: Utilizing conversational analytics in orthopaedic surgery may provide insights into patients' experiences and outcomes. This study retrospectively assessed how patients interacted with a perioperative chatbot and whether the topic of patients' queries could offer insight on their outcomes after total knee or hip arthroplasty.
Methods: We identified 1338 patients (746 knees and 592 hips) who enrolled in a short message service chatbot from 2020-2022 with greater than 3 months of follow-up.
Objective: To study improvements in spermatogenesis in men with a history of testosterone therapy using a novel fertility treatment regimen.
Design: A single-center retrospective cohort analysis.
Setting: Clinic.
Interpretation of disease-causing genetic variants remains a challenge in human genetics. Current costs and complexity of deep mutational scanning methods are obstacles for achieving genome-wide resolution of variants in disease-related genes. Our framework, saturation mutagenesis-reinforced functional assays (SMuRF), offers simple and cost-effective saturation mutagenesis paired with streamlined functional assays to enhance the interpretation of unresolved variants.
View Article and Find Full Text PDFBackground: Management of febrile neutropenia in pediatric oncology usually requires inpatient parenteral antibiotics after initial evaluation, but some patients at lower risk of sepsis could be safely managed outpatient. We describe a quality improvement project to increase outpatient management of fever and neutropenia.
Methods: We designed a standardized algorithm for children with a solid tumor diagnosis and low risk for bacteremia.
Limited research exists on the mechanisms underlying asthenozoospermia associated with acquired ciliary dyskinesia. Primary ciliary dyskinesia links respiratory pathology with infertility and provides a basis for a potential mechanism. The aetiology of asthenozoospermia is often unclear and may be secondary to direct or indirect effects on sperm motility.
View Article and Find Full Text PDFOrthopedic clinics are becoming strained with clinical volume outpacing resources and personnel. Patient engagement platforms can help bridge the communication and engagement gaps between patients and their healthcare teams as total hip and knee arthroplasty transitions to the outpatient setting. These platforms provide a digital infrastructure that allows patients to participate in their healthcare journey while alleviating the burdens on clinic staff.
View Article and Find Full Text PDFIntroduction: We sought to identify patient understanding of urology residents and comfort with being cared for by residents. Through this pilot study, we aim to propose educational objectives to improve this knowledge gap and ultimately allow for an improved patient experience.
Methods: A prospective survey was distributed from September 2022 to October 2022.
Bibliometric analyses serve to identify influential articles that have shaped medical practice and fostered new research ideas. Over the past decade, research in andrology has witnessed exponential growth, with an increasing number of academic publications, collaborations, and research innovations. However, there is a lack of literature that has identified the top-cited andrology articles.
View Article and Find Full Text PDFObjective: Natural language processing (NLP) can generate diagnoses codes from imaging reports. Meanwhile, the International Classification of Diseases (ICD-10) codes are the United States' standard for billing/coding, which enable tracking disease burden and outcomes. This cross-sectional study aimed to test feasibility of an NLP algorithm's performance and comparison to radiologists' and physicians' manual coding.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
May 2024
Maintaining the structure of cardiac membranes and membrane organelles is essential for heart function. A critical cardiac membrane organelle is the transverse tubule system (called the t-tubule system) which is an invagination of the surface membrane. A unique structural characteristic of the cardiac muscle t-tubule system is the extension of the extracellular matrix (ECM) from the surface membrane into the t-tubule lumen.
View Article and Find Full Text PDFBackground: Since the COVID-19 pandemic health systems have shifted necessarily from chronic to infectious disease treatment, but chronic disease remains critical. One large health system uniquely tracks member health behaviors. This analysis compares data from select months of an ongoing monthly cross-sectional survey before and during the pandemic.
View Article and Find Full Text PDFNumerous case reports exist on penile strangulation injuries and extrication methods; however, the care and long-term consequences of penile strangulation injuries have been under-reported. Our aim is to investigate the long-term outcomes and sequalae following penile strangulation injuries. The PubMed Medline database was searched using the keyword string "penile strangulation," "penis strangulation," and "constriction" for all studies reporting outcomes of published penile strangulation injuries.
View Article and Find Full Text PDFObjective: Cannabis use is increasing among college students and commonly co-occurs with anxiety symptoms in this age group. Interventions that reduce anxiety may also reduce cannabis use. Behavioral economic theory suggests that substance use reductions are most likely when there is an increase in substance-free reinforcement.
View Article and Find Full Text PDFMatriglycan (-1,3-β-glucuronic acid-1,3-α-xylose-) is a polysaccharide that is synthesized on α-dystroglycan, where it functions as a high-affinity glycan receptor for extracellular proteins, such as laminin, perlecan and agrin, thus anchoring the plasma membrane to the extracellular matrix. This biological activity is closely associated with the size of matriglycan. Using high-resolution mass spectrometry and site-specific mutant mice, we show for the first time that matriglycan on the T317/T319 and T379 sites of α-dystroglycan are not identical.
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