Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
Case: An active healthy 68-year-old male sustained a bilateral quadriceps tendon rupture while running. He underwent a simultaneous bilateral quadriceps tendon repair in a dual-surgeon approach. The right quadriceps tendon was repaired with a tourniquet, while the left quadriceps tendon tear was repaired without one.
View Article and Find Full Text PDFPurpose: To report the indications, postoperative visual outcomes, and long-term graft survival of primary pediatric keratoplasties performed at a single tertiary care center.
Methods: We conducted a retrospective review of pediatric patients (16 years and younger) who underwent surgical intervention for corneal opacity at a tertiary care center to evaluate long-term graft survival and visual rehabilitation.
Results: Seventy-three eyes of 46 patients met inclusion criteria.
Background And Objective: Sarcopenia, characterized by the progressive loss of skeletal muscle mass (MM) and muscle function, is a common and debilitating condition in cancer patients, significantly impacting their quality of life, treatment outcomes, and overall survival. The pathophysiology of sarcopenia is multifactorial, involving metabolic, hormonal, and inflammatory changes. Recent research highlights the role of chronic inflammation in the development and progression of sarcopenia, with pro-inflammatory cytokines being key mediators of muscle catabolism.
View Article and Find Full Text PDFMetastatic triple-negative breast cancer has a poor prognosis and poses significant therapeutic challenges. Until recently, limited therapeutic options have been available for patients with advanced disease after failure of first-line chemotherapy. The aim of this review is to assess the current evidence supporting second-line treatment options in patients with metastatic triple-negative breast cancer.
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