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.

Real-World Treatment of Schizophrenia in Adults With a 22q11.2 Microdeletion: Traitement dans le monde réel de la schizophrénie chez des adultes atteints du syndrome de microdélétion 22q11.2.

Objective: One in every 4 individuals born with a 22q11.2 microdeletion will develop schizophrenia. Thirty years of clinical genetic testing capability have enabled detection of this major molecular susceptibility for psychotic illness.

Using computational learning for non-melanoma skin cancer and actinic keratosis near-infrared hyperspectral signature classification.

Background: The early detection of Non-Melanoma Skin Cancer (NMSC) is essential to ensure patients receive the most effective treatment. Diagnostic screening tools for NMSC are crucial due to high confusion rates with other types of skin lesions, such as Actinic Keratosis. Nevertheless, current means of diagnosing and screening patients rely on either visual criteria, that are often conditioned by subjectivity and experience, or highly invasive, slow, and costly methods, such as histological diagnoses.

Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study.

Background: Inferior vena cava agenesis (IVCA) is a rare anomaly predisposing affected people to lower-limb venous thrombosis with low frequency of pulmonary embolism. Antenatal thrombosis and inherited thrombophilia have been suggested as causes of IVCA. However, there is little evidence on the clinical course and management of this condition.