The Orphanet Journal of Rare Diseases has published an article about the complex relationship between rare diseases and mental health problems. The incidence of mental health disorders is significantly higher in individuals with a rare disease, compared to the general population. This article considers the possible reasons for this in terms of the many ways in which a rare disease impacts on an individual’s life, and how these impacts can be strongly related to factors which predispose to mental health difficulties. The full-text article you can find here.
The Orphanet Journal of Rare Diseases has published an article about juvenile idiopathic arthritis. Juvenile idiopathic arthritis (JIA) is a rare disease that is not widely known by paediatricians and general practitioner (GP) leading to diagnostic error and delayed care provision. The autors aimed to analyse patient’s journey and time to diagnosis of JIA (delay from the first symptom to the diagnosis of JIA). The full-text article you can find here.
The journal Clinical and Experimental Immunology has published an article about the the role of genomics. The advent of next generation sequencing (NGS) and ‘omic’ technologies has revolutionised the field of genetics and its implementation in healthcare has the potential to realise precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefitted from NGS, with a massive increase in causative genes identified in the past few years. The full-text article you can find here.
The journal Thérapie has published an article about Type 1 Gaucher disease. Type 1 Gaucher disease is a rare genetic disease characterized by enzymatic deficit leading to glucosylceramide overload in body tissues (lysosomal overload disease). Standard treatment is based on substitutive enzyme therapy by intravenous perfusion. The full-text article you can find here.
The journal Neuron has published an article about the complicated relationship between Gaucher disease and Parkinsonism. The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric α-synuclein. The full-text article you can find here.
The journal Gene Therapy has published an article about Rare Disease Day. Rare Disease Day is a global awareness day celebrated on the last day of February each year, which in 2017 reaches its 10th edition. The Day aims to make the general public, stakeholders and decision-makers aware of these 6–8000 diseases, which are mostly inherited, affect 6% of the population and consume a disproportionate part of Health budgets. The full-text article you can find here.
The journal European Respiratory Journal has published an article about rare diseases. Rare diseases are life-threatening or chronically debilitating conditions which are of such low prevalence (fewer than 1 in 2000 people) that special combined efforts are needed to address them. The ERN-LUNG is a network of European healthcare providers dedicated to ensuring and promoting excellence in care and research for the benefit of patients affected by rare respiratory diseases. ERN-LUNG’s vision is to be a European knowledge hub for such diseases and to decrease morbidity and mortality from them in people of all ages. The full-text article you can find here.
The journal Arquivos de Neuro-Psiquiatria has published a report about superficial siderosis of the central nervous system. Superficial siderosis (SS) of the central nervous system (CNS) was described over 100 years ago as “melanosis of the brain”. This rare disorder results from chronic or intermittent bleeding into the subarachnoid space, leading to deposition of blood byproducts in the subpial layers of the meninges. The full-text report you can find here.
The journal European Respiratory Journal has published an article about chronic thromboembolic pulmonary hypertension. Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare form of pulmonary hypertension, classified as group 4 in the present clinical classification. CTEPH is generally considered a late complication of one or multiple episodes of acute pulmonary embolism that have not resolved despite at least 3 months of therapeutic anticoagulation. The full-text article you can find here.
The journal Clinical Epidemiology has published a study about evaluate the validity of algorithms detecting hypopituitary patients. Routinely collected health data may be valuable sources for conducting research. This study aimed to evaluate the validity of algorithms detecting hypopituitary patients in the Danish National Patient Registry (DNPR) using medical records as reference standard. Patients with International Classification of Diseases (10th edition [ICD-10]) diagnoses of hypopituitarism, or other diagnoses of pituitary disorders assumed to be associated with an increased risk of hypopituitarism, recorded in the DNPR during 2000-2012 were identified. Medical records were reviewed to confirm or disprove hypopituitarism. Hypopituitarism was confirmed in 911 patients. In a candidate population of 1,661, this yielded an overall positive predictive value (PPV) of 54.8% (95% confidence interval [CI]: 52.4-57.3). The DNPR is a valuable data source to identify hypopituitary patients using a search criteria of at least five records of E23.0x and/or at least one record of E89.3x. The full-text study you can find here.