The journal Der Internist has published an article about computer-assisted diagnosis of rare diseases. To establish a comprehensive diagnosis is by far the most challenging task in a physician’s daily routine. Especially rare diseases place high demands on differential diagnosis, caused by the high number of around 8000 diseases and their clinical variability. The full-text article you can find here.
The journal Digestive Diseases and Sciences has published an article about autoimmune pancreatitis. Autoimmune pancreatitis (AIP) is a chronic fibroinflammatory disease of the pancreas that belongs to the spectrum of immunoglobulin G-subclass4-related diseases (IgG4-RD) and typically presents with obstructive jaundice. Idiopathic duct-centric pancreatitis (IDCP) is a closely related but distinct disease that mimics AIP radiologically but manifests clinically most commonly as recurrent acute pancreatitis in young individuals with concurrent inflammatory bowel disease. The full-text article you can find here.
The Journal of Atherosclerosis and Thrombosis has published an article about Familial Hypercholesterolemia. Familial Hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipoprotein metabolism that leads to premature coronary heart disease. There are over 65,000 people estimated to have FH in Australia, but many remain undiagnosed. The full-text article you can find here.
The journal European Journal of Medical Genetics has published an article about Loeys-Dietz syndrome. Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. The full-text article you can find here.
The European Journal of Human Genetics has published an article about whole-exome/whole-genome sequencing. Whole-exome/whole- genome sequencing (WES/WGS) has the potential to enhance genetic diagnosis of rare disease, and is increasingly becoming part of routine clinical care in mainstream medicine. Effective translation will require ongoing efforts in a number of areas including: selection of appropriate patients, provision of effective consent, pre- and post-test genetic counselling, improving variant interpretation algorithms and practices, and management of secondary findings including those found incidentally and those actively sought. The full-text article you can find here.
The Journal of Pediatrics has published an article about overcoming diagnostic errors in medical practice. Although precise definitions of diagnostic error and comprehensive estimates of its incidence and impact are lacking, analysis of adult healthcare and postmortem examinations implicates diagnostic error in up to 17% of hospital adverse events and in approximately 10% of patient deaths. The full-text article you can find here.
The Korean Journal of Gastroenterology has published an article about multiple endocrine neoplasia type 1. Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. The full-text article you can find here.
Sorry, this entry is only available in Bulgarian.
The Journal of Clinical Medicine has published an article about the Italian registry of congenital bleeding disorders. In Italy, the surveillance of people with bleeding disorders is based on the National Registry of Congenital Coagulopathies (NRCC) managed by the Italian National Institute of Health (Istituto Superiore di Sanità). The NRCC collects epidemiological and therapeutic data from the 54 Hemophilia Treatment Centers, members of the Italian Association of Hemophilia Centres (AICE). The number of people identified with bleeding disorders has increased over the years, with the number rising from approx. 7000 in 2000 to over 11,000 in 2015. The full-text article you can find here.
In March 2015 started the European study ASDEU (http://asdeu.eu/), which is dedicated to the autism spectrum disorders. ASDEU includes assessment of the socio-economic costs of the patients with autism and their families. The survey is designed for patients with autism, their parents, relatives and people who care about them. The study is fully anonymous. The recorded answers contain no identifying information and will be treated in accordance with legal provisions on the protection of personal data. The survey is entirely online at: http://asdeu.limequery.com/survey/index/sid/785733/newtest/Y/lang/bg