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| http://dx.doi.org/10.1136/bmj.304.6821.252 | DOI Listing |
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Endoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.
J Clin Med
January 2025
Department of Surgery IV, George Emil Palade University of Medicine, Pharmacy, Science and Technology of Targu Mures, 38 Gheorghe Marinescu Street, 540139 Targu Mures, Romania.
: Totally endoscopic techniques have become increasingly popular in cardiac surgery, with minimally invasive mitral valve repair emerging as an effective alternative to median sternotomy. This approach could be particularly advantageous for patients with Noonan syndrome, who often present with structural thoracic anomalies and other comorbidities like bleeding disorders. Endoscopic mitral valve surgery is rapidly establishing itself as the new standard of care for mitral valve operations, demonstrating both safety and efficacy.
View Article and Find Full Text PDFDown syndrome with cryptorchidism and retroperitoneal mixed germ cell tumour in an adult patient: a case report and literature review.
World J Surg Oncol
January 2025
Department of Colorectal Surgery, Dingli Clinical College, Wenzhou Medical University (Wenzhou Central Hospital), 252 Baili East Road, Wenzhou, Zhejiang Province, 32500, China.
Background: An association between testicular cancer and Down syndrome has been reported by several studies. Down syndrome with cryptorchidism and retroperitoneal mixed germ cell tumours is rare, and yolk sac tumours are often considered secondary components of mixed germ cell tumours. Herein, we present a rare case of retroperitoneal mixed germ cell tumour with cryptorchidism accompanied by yolk sac tumour and seminoma in a patient with Down syndrome, along with its imaging features.
View Article and Find Full Text PDFExploring peripheral fluid biomarkers for early detection of Alzheimer's disease in Down syndrome: A literature review.
Heliyon
January 2025
Laboratory of Neurochemistry and Behaviour, Experimental Neurobiology Unit, University of Antwerp, Belgium.
People with Down Syndrome (DS) are at high risk of developing Alzheimer's disease dementia (AD) and cerebral amyloid angiopathy, which is a critical factor contributing to dementia in sporadic AD. Predicting and monitoring the decline and onset of dementia is a diagnostic challenge and of essence in daily care and support for people with DS. In this literature scoping review, we first summarize the different blood-based biomarkers for AD in DS.
View Article and Find Full Text PDFDefining a novel DYRK1A-gp130/IL-6R-pSTAT axis that regulates Th17 differentiation.
Immunohorizons
January 2025
Center for Translational Immunology, Benaroya Research Institute at Virginia Mason, Seattle, WA, United States.
Dysregulated differentiation of naïve CD4+ T cells into T helper 17 (Th17) cells is likely a key factor predisposing to many autoimmune diseases. Therefore, better understanding how Th17 differentiation is regulated is essential to identify novel therapeutic targets and strategies to identify individuals at high risk of developing autoimmunity. Here, we extend our prior work using chemical inhibitors to provide mechanistic insight into a novel regulator of Th17 differentiation, the kinase dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A).
View Article and Find Full Text PDFAssociations Between Early Physician Follow-up and Post-discharge Outcomes: A Systematic Review and Meta-analysis.
J Gen Intern Med
January 2025
Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
Background: Early physician follow-up after hospital discharge is commonly recommended, though whether it mitigates adverse events is unclear. We conducted a systematic review and meta-analysis to examine the association between physician follow-up within 30 days of hospital discharge and risk of hospital readmission, emergency department (ED) visits, or mortality in medical patients.
Methods: MEDLINE, EMBASE, and CINAHL electronic databases were searched from inception to April 2023.
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