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TBC1D20 coordinates vesicle transport and actin remodeling to regulate ciliogenesis.
J Cell Biol
April 2025
Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin, China.
TBC1D20 deficiency causes Warburg Micro Syndrome in humans, characterized by multiple eye abnormalities, severe intellectual disability, and abnormal sexual development, but the molecular mechanisms remain unknown. Here, we identify TBC1D20 as a novel Rab11 GTPase-activating protein that coordinates vesicle transport and actin remodeling to regulate ciliogenesis. Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells.
View Article and Find Full Text PDFA New Design for Aortic Arch Surgery: Ex Vivo Implantation and Computerized Flow Evaluation of the ISLAND Graft.
Innovations (Phila)
December 2024
Department of Neurosciences and Rehabilitation, Cardiac Surgery Unit, University of Ferrara, Italy.
Objective: Both the en bloc island technique and the branched graft technique (BGT) present advantages but also limitations in aortic arch surgery. Here is the first presentation of an innovative prosthesis for aortic arch replacement, conceived to overcome the disadvantages of both techniques.
Methods: The novel ISLAND graft is a tubular Dacron or hybrid prosthesis with an additional extended Dacron graft ("bubble") on the superior aspect, for en bloc island graft anastomosis.
Inclusive design and usability testing: Involving an end-user in developing augmentative and alternative communication user interfaces using an open-source platform.
J Rehabil Assist Technol Eng
January 2025
Department of Allied Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Introduction: Traditionally, augmentative and alternative communication (AAC) user interface development has been a time-intensive process requiring expertise in software development, often excluding people who use AAC. This paper demonstrates the involvement of an end user in the design and testing of prototype AAC user interfaces (UIs) developed using a platform called the Open Source Design and Programmer Interface (OS-DPI).
Methods: Micro-analysis of in-person conversation involving an adult with intellectual and developmental disabilities who uses AAC revealed several problems related to accessing his aided AAC device.
Ethical dilemmas surrounding patients´ "unwise" treatment preferences and suboptimal decision quality: case series of three renal cell carcinoma patients who developed local recurrences after non-guideline-concordant care choices.
Pan Afr Med J
January 2025
College of Medicine, Qatar University, Doha, Qatar.
Patient engagement and shared decision-making (SDM) between patients and clinicians is the foundation of patient-centered care. It aims to reach a treatment option that fits the patient's preference and is guideline-concordant. We sought to evaluate the possible causes and outcomes of patient's non-guideline-concordant care choices.
View Article and Find Full Text PDFHealthcare Resource Utilization Among Patients With Generalized Pustular Psoriasis: The Impact of Flares and Disease Severity.
J Psoriasis Psoriatic Arthritis
January 2025
Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA.
Background: Generalized pustular psoriasis (GPP) is a rare, chronic, often unpredictable, severe multisystemic autoinflammatory skin disease from which patients can experience flares, episodes of widespread eruptions of painful, sterile pustules often accompanied by systemic symptoms. The impact of GPP flares and underlying GPP severity on the healthcare resource utilization (HCRU) is not well characterized.
Objective: To quantify HCRU among US GPP patients by flare status and underlying severity.
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