Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.

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.

Low-cost physiology and behavioral monitor for intravital imaging in small mammals.

Significance: Functional brain imaging experiments in awake animals require meticulous monitoring of animal behavior to screen for spontaneous behavioral events. Although these events occur naturally, they can alter cell signaling and hemodynamic activity in the brain and confound functional brain imaging measurements.

Aim: We developed a centralized, user-friendly, and stand-alone platform that includes an animal fixation frame, compact peripheral sensors, and a portable data acquisition system.

Non-Classical Complications of Adult-Onset Still's Disease: A Multicenter Spanish Study.

To investigate the prevalence and clinical spectrum of atypical or non-classical complications in adult-onset Still's disease (AOSD) beyond macrophage activation syndrome (MAS) and to identify factors linked to their occurrence. Multicenter cross-sectional study of AODS cases included in the Spanish registry on Still's disease. This study included 107 patients (67% women), of whom 64 (59.

Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.

: Protracted febrile myalgia (PFM) is a rare but severe form of myalgia mainly occurring in pediatric patients with familial Mediterranean fever (FMF). PFM imaging and histopathological data remain scarce. : A comprehensive clinical, imaging, and histopathological characterization of PFM was performed by retrospectively analyzing a reference center cohort of adult patients with FMF and myalgia, and by a PubMed search of well-described cases with PFM.

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

Purpose: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process.