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.
The journal Indian Journal of Hematology & Blood Transfusion has published an article about langerhans cell histiocytosis (LCH). LCH is a rare disease characterized by clonal neoplastic proliferation of normal antigen presenting cell (APC), the Langerhans cell. Most cases occur in childhood and the disease is rare in adults. LCH can involve solitary organ or can present as a multi-system disease in children. We herewith report a case with isolated tonsillar involvement by LCH in an adult patient. The full-text article you can find here.
The journal International Journal of Surgery Case Reports has published an article about Rosai-Dorfman Disease (RDD). RDD is a rare disease that normally presents with bilateral cervical lymph node enlargement. Systemic symptoms of fever and weight loss may be present but patients are usually asymptomatic. This benign disease tends to regress on its own without treatment but there have been cases that required treatment with steroids or chemotherapeutic regimes. The full – text article can find here.
The journal Nature has published an article about junctional epidermolysis bullosa (JEB). JEB is a severe and often lethal genetic disease caused by mutations in genes encoding the basement membrane component laminin-332. Surviving patients with JEB develop chronic wounds to the skin and mucosa, which impair their quality of life and lead to skin cancer. In this article the authors show that autologous transgenic keratinocyte cultures regenerated an entire, fully functional epidermis on a seven-year-old child suffering from a devastating, life-threatening form of JEB. The full-text article you can read here.
The book “Contemporary Aspects of Some Rare Syndromes, Diseases and Anomalies Affecting the Eyes” by Assoc. Prof. Krasimir Tsonev Koev, PhD, is the first of its kind in Bulgaria. The author has succeeded to select and assemble the available and up-to-date information for 50 rare syndromes, diseases and anomalies affecting the eyes. The description of each disease in the book is well structured and includes definition, etiology, epidemiological data, ocular manifestations, diagnostic criteria, treatment, and references. Thus, the book of Prof. Krassimir Koev becomes an extremely valuable source of information not only for the specialists in ophthalmology, but also for doctors from other specialties – pediatricians, neurologists, maxillofacial surgeons, neurosurgeons, dentists, geneticists, general practitioners etc. The medical professionals in Bulgaria will be able to improve their knowledge and the possibility of early diagnosis of both rare eye syndromes and abnormalities as well as other rare diseases with eye symptoms.
Тhe journal Frontiers in Immunology has published an article about common variable immunodeficiency (CVID). CVID is the most common primary immunodeficiency. Prevalence varies greatly between countries and studies. Most diagnostic criteria include hypogammaglobulinemia and impaired vaccine response. Тhe full-text article you can find here.
The journal Europace has published an article about Fabry disease (FD). FD is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. The full-text article you can read here.
The jounal Journal of Pediatric Hematology Oncology has published an article about Langherans’ cell histiocytosis (LCH). LCH is a rare disease mostly affecting children in the first decade of life. As clinical presentation is extremely heterogenous, a prompt diagnosis may be challenging, sometimes leading to a diagnostic delay, especially when the disease involves a single site. The full-text article you can read here.
The journal Journal of Neuro-Ophthalmology has published an article about Leber hereditary optic neuropathy (LHON). LHON is currently estimated as the most frequent mitochondrial disease (1 in 27,000-45,000). Its molecular pathogenesis and natural history is now fairly well understood. The full-text article you can read here.
The journal South Dakota Medicine has published an article about amyloidosis. Amyloidosis is a rare disease encompassing the accumulation of abnormal and insoluble amyloids systemically or in specific organs. This is a case of a previously healthy 60-year-old male complaining of fatigue and chest pain who proceeded to rapidly decline in functional status within six months from the onset of these symptoms. The full-text article you can find here.