This newsletter links you to summaries of progress and early findings, where these are available, covering investigations into: the prevalence of autism and its costs; early detection and improved training; effective support for autistic adults and senior citizens; and the development of EU-wide policies on autism. Click here to read the newsletter.
The journal Advances in Experimental Medicine and Biology has published an article about bridging the gap between health and social care for rare diseases. Bridging the gaps between health and social care for rare diseases is not only necessary but crucial to increase the life expectancy, quality of life and autonomy of people living with a rare disease, supporting them in the full realisation of their fundamental human rights.The complexity of rare diseases, their strong relation to disability and the current unmet social and daily life needs of people living with a rare disease must not be underestimated and require urgent attention from all stakeholders involved in care provision, from healthcare to social and community services. The full-text article you can find here.
The journal Advances in Experimental Medicine and Biology has published an article about Immunological Rare Diseases. The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Due to the enormous number of different rare immunological diseases, in this chapter the authors are going to analyse some of them that can be considered paradigmatic of the various expressions of disease.Тhe full-text article you can find here.
Тhe journal Molecular Genetics and Metabolism has published an article about epilepsy in mucopolysaccharidosis disorders. The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction. Epileptic seizures are neurological signs of MPS thought to develop due to accumulation of GAGs in the brain, triggering alterations in neuronal connectivity and signaling, and release of inflammatory mediators. This review discusses current knowledge on this topic, as well as two case examples, presented and discussed during a closed meeting on MPS and the brain among an international group of experts with extensive experience in managing and treating MPS. The full-text article you can find here.
The journal Revista Española de Salud Publica has published an article about Osteogenesis imperfecta. Osteogenesis imperfecta (OI) is a rare connective tissue and bone disease that results in a bone fragility of varying severity. The objective of the article was to determine and describe the OI in the Valencia Region (VR) during the period 2004 to 2014. The full-text article you can read here.
The journal Heart has published an article about Takayasu arteritis. Takayasu arteritis (TA) is a rare disease affecting chiefly young women, although it can affect both men and women and persons of many different ethnicities. TA carries a high morbidity rate, but importantly, overall mortality has declined over time such that the 15-year survival rate has increased from 82.9% for patients diagnosed between 1957 and 1975 to 96.5% for those diagnosed from 1976 to 1990. The full-text article you can find here.
The journal Endocrine, Metabolic & Immune Disorders Drug Targets has published an article about Arnold Chiari Malformation. Arnold Chiari Malformation (ACM) type I is a pathology whose symptomatology has repercussions for the quality of life of those affected by it. Quality-of-life measurement instruments can allow the severity of the impact of Chiari type I malformation on patients’ lives to be monitored. The Chiari Symptom Profile (CSP) is a valid and reliable instrument designed for this purpose. The aim of the study was to adapt the CSP to Spanish and to explore the reliability and validity of this construct in the context of Spanish-speaking patients with ACM. The full-text article you can find here.
The journal Molecular Genetics & Genomic Medicine has published an article about patients living with a rare disorder. Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. The full-text article you can find here.
The journal Molecular Genetics and Metabolism has published an article about mucopolysaccharidosis. The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease. This review summarizes existing and potential future treatment approaches that target brain disease in MPS. The information in this review is based on current literature and presentations and discussions during a closed meeting by an international group of experts with extensive experience in managing and treating MPS. The full-text article you can find here.
From 20 November 2017, the Clinical Patient Management System (CPMS), the ERN software for data sharing and virtual panels, started functioning. This follows the opinion received by the European Data Protection Supervisor (EDPS) on the compliance with EU data protection rules. The 24 ERNs can therefore start using the system to treat and diagnose patients suffering from rare, low prevalence and complex diseases and will now fully develop their potential to offer patients and doctors access to the best expertise and timely exchange of life-saving knowledge. They are set to become a clear demonstration of what solidarity among the health systems of the Member States can do for the people living in Europe! For more information click here.