The journal Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz has published an article central information portal on rare diseases. A central information portal on rare diseases (ZIPSE) has been conceptualized and implemented that allows patients, relatives and health care professionals to access quality-assured information. For this purpose, quality criteria have been developed specifically for rare diseases. The full-text article you can read here.
The journal International Journal of Environmental Research and Public Health has published an article about congenital anomalies in contaminated sites. The health impact on populations residing in industrially contaminated sites (CSs) is recognized as a public health concern especially in relation to more vulnerable population subgroups. The aim of this article was to estimate the risk of congenital anomalies (CAs) in Italian CSs. The full-text article you can find here.
The journal Expert Opinion on Investigational Drugs has published an article about аmyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis (ALS) is a fatal motor neuron progressive disorder for which no treatment exists to date. However, there are other investigational drugs and therapies currently under clinical development may offer hope in the near future. The full-text article you can find here.
The Journal of Allergy and Clinical Immunology has published a report about acquired C1-inhibitor deficiency. Acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) is a rare disease with no prevalence data or approved therapies. The journal reports data on patients with C1-INH-AAE followed at Angioedema Center, Milan (from 1976 to 2015).
Diagnostic criteria included history of recurrent angioedema without wheals; decreased C1-INH antigen levels and/or functional activity of C1-INH and C4 antigen less than 50% of normal; late symptom onset (>40 years); no family history of angioedema and C1-INH deficiency. In total, 77 patients (58% females; median age, 70 years) were diagnosed with C1-INH-AAE and 675 patients with hereditary angioedema due to C1-INH deficiency (C1-INH-HAE) (1 patient with C1-INH-AAE/8.8 patients with C1-INH-HAE). The incidence of C1-INH-AAE was 1 for every 8.8 patients with C1-INH-HAE. Thirty percent of the deaths were related to the disease. Treatments approved for C1-INH-HAE are effective in C1-INH-AAE, although with minimal differences. The full-text report you can find here.
The journal Thrombosis Research has published an article about acquired hemophilia. Acquired hemophilia A (AHA) is a severe bleeding disorder caused by autoantibodies against clotting factor VIII (FVIII). With an estimated annual incidence of 1.3 to 1.5 per million, AHA is a rare disease. An extremely rare form of AHA has been described among women in the peripartum period, and may present with peripartum hemorrhage. The full-text article you can find here.
The journal Journal of Bone and Mineral Research has published an article about Type 1 Gaucher Disease. Gaucher disease (GD), one of the commonest lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. The full-text article you can find тук.
Today in Vilnius, the European Commission and the Maltese Presidency of the Council are delighted to welcome more than 600 participants to a two-day conference, hosted by the Ministry of Health of Lithuania, to celebrate the approval of the first 24 European Reference Networks (ERN) in the EU. Two thirds of today’s participants are ERN coordinators and members. These highly specialised healthcare providers are the pioneers of this new European adventure, and we congratulate them on the work they have done to pull together so many healthcare providers across Europe. The full-text press statement you can read тук.
Orphanet (www.orpha.net) is a unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. To mark its 20th anniversary, the Orphanet website (www.orpha.net) is undergoing a complete makeover, starting with the look and feel of the site. The Orphanet team hopes that the new format will make the data in Orphanet easier to find for its different audiences.
The journal Journal of Internet Medical Research has published an article about the internet use by parents of children with rare conditions. Parents of children with rare conditions increasingly use the Internet to source information on their child’s condition. The evolving and ever increasing parent-to-parent support systems via social media are impacting on parents’ capacity to manage their children. The full-text article you can read here.
Тhe journal European Journal of Endocrinology has published an article about The French Acromegaly Registry. Acromegaly is a rare disease associated with chronic multisystem complications. National registries have been created in several countries. The French registry contains data on acromegaly epidemiology, management and comorbidities recorded over more than three decades, retrospectively until 1999 and prospectively from 1999 until 2012. The full-text article you can find here.