PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Rituximab for acute plasma-refractory thrombotic thrombocytopenic purpura. A case report and concise review of the literature (Swiss Med Wkly. 2007 Sep 22;137(37-38):518-24). Authors are Rüfer A Brodmann D Gregor M et al., from the Division of Haematology, Department of Medicine, Kantonsspital Luzern, Luzern. Thrombotic thrombocytopenic purpura (TTP) is a rare disease which responds well to plasma exchange treatment in the majority of patients. We report on a patient with acute TTP caused by severe autoantibody-mediated ADAMTS-13 deficiency, in whom remission was not achieved by initial treatment consisting of plasma exchange (PE), plasma infusion and corticosteroids, followed by vincristine and splenectomy.In view of the ongoing activity of TTP, treatment was initiated with rituximab, a chimaeric monoclonal antibody directed against the CD 20 antigen present on B lymphocytes.Three weeks after the last infusion of rituximab a complete clinical and laboratory remission of this first episode of acute refractory TTP was documented. To access the full abstract of the article, click here.
On 22/10/2007 , a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 483. The active ingredient is Amonafide L-malate for treatment of acute myeloid leukaemia.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Acrokeratoelastoidosis treated with the erbium:YAG laser. ( Clin Exp Dermatol. 2007 Nov 5). Authors are Erbil AH Sezer E Koç E et al., from the Pathology, Gulhane Military School of Medicine, Ankara, Turkey. Acrokeratoelastoidosis is a rare skin disorder characterized by grouped, small, firm, translucent papules distributed on the margins of the hands and feet. We report a 21-year-old white patient with acrokeratoelastoidosis in whom Er:YAG laser surgery was carried out, resulting in a slight post-treatment improvement of the disease with slight flattening of the lesions. No clinical recurrence of the lesions developed during the 6 months of follow-up. We suggest that Er:YAG laser surgery of acrokeratoelastoidosis may be considered as a treatment option. To access the full abstract of the article, click here.
Third Eastern European Conference on Rare Diseases and Orphan Drugs “RARE DISEASES – PREVENTION, DIAGNOSIS, TREATMENT” 1-2 March 2008 – Plovdiv, Bulgaria. Participants from Bulgaria and Eastern Europe will present their achievements in the field of prevention, diagnosis and treatment of rare diseases by oral presentations and posters During the conference, a specialized workshop with speakers from leading USA, European and Bulgarian organisations and institutions will be carried out, who will discuss the best practices in the field of rare diseases and orphan drugs marketing and access. The conference will take place in the Congress centre of NOVOTEL – Plovdiv. For more information and registrations visit the conference website: www. conf2008.raredis.org.
On 22/10/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 492. The active ingredient is Iodine (131I) chlorotoxin for treatment of glioma.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Does MALT lymphoma of the lung require immediate treatment? (Anticancer Res. 2007 Sep-Oct;27(5B):3633-7.). Authors are Troch M Streubel B Petkov V et al., from the Department of Internal Medicine I, Division of Oncology, Medical University of Vienna, Austria. Mucosa-associated lymphoid tissue lymphoma (MALT lymphoma) of the lung is a relatively rare disease. As little is known about the natural clinical course if left untreated, all patients undergoing a watch-and-wait policy at our institution were investigated.Our findings suggest that MALT lymphoma of the lung is a very indolent disease with the potential for spontaneous regression. In view of this, patients diagnosed with pulmonary MALT lymphoma might not require immediate treatment in the absence of symptoms and a watch-and-wait policy could be adopted. To access the full abstract of the article, click here.
Third Eastern European Conference on Rare Diseases and Orphan Drugs “RARE DISEASES – PREVENTION, DIAGNOSIS, TREATMENT” 1-2 March 2008 – Plovdiv, Bulgaria. Participants from Bulgaria and Eastern Europe will present their achievements in the field of prevention, diagnosis and treatment of rare diseases by oral presentations and posters During the conference, a specialized workshop with speakers from leading USA, European and Bulgarian organisations and institutions will be carried out, who will discuss the best practices in the field of rare diseases and orphan drugs marketing and access. The conference will take place in the Congress centre of NOVOTEL – Plovdiv. For more information and registrations visit the conference website: www. conf2008.raredis.org.
As we announced, Public Consultation regarding Community action on rare diseases is available on-line in Bulgarian language now. High-quality diagnosis, treatment and information for people suffering from rare diseases are priority issues for the European Commission. Rights to an equal healthcare are also recognised in the Charter of Fundamental Rights of the EU. Responses to this consultation should be sent to the European Commission by 14 February 2008. To download the text of the document in Bulgarian language click here.
European Project for Rare Diseases National Plans Development (EUROPLAN) is a new EU project in the field of rare disease, granted by Public Health Executive Agency (PHEA). The project aims at providing information on the different steps to develop a strategic plan and at identifying best practices in order to share information, models and data on effective strategies to address RD. The project includes 17 out of the 27 EU MS and Eurordis. This will ensure a broad representation of different EU contexts and experiences and patients’ point of view. The project will contribute to increase awareness on RD and the recommendations will also serve as an important advocacy instrument at policy level. Our centre is the Bulgarian representative and full partner in this project.
Charity Christmas Concert “Touch our world“ will take place on 22 December 2007, at 18:30, in 11Hall of the National Palace of Culture. The charity concert is organised by the National Alliance of People with Rare Diseases – the patient organisation, which aim is to protect human rights of people with rare diseases in Bulgaria.