On 20/09/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 471. The active ingredient is Human coagulation factor X for treatment of hereditary factor X deficiency.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Defect in glycosylation that causes muscular dystrophy (Methods Enzymol. 2006;417:137-52.). Authors are Endo T Manya H from the Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan. Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. The dystrophin-glycoprotein complex is composed of alpha-, beta-dystroglycan (DG), dystrophin and some other molecules.New findings indicate that disrupted glycosylation of alpha-DG results in a loss of ligand binding, giving rise to both progressive muscle degeneration and abnormal neuronal migration in the brain. This article discusses methods, including purification of alpha-DG and glycosyltransferase assays involved in alpha-DG glycosylation. To access the full abstract of the article, click here.
New forum on Prader-Willy syndrome is active on our website. The forum is opened for all Bulgarian visitors concerned about this rare disease. It gives an opportunity for information exchange, discussions and supports the initiatives of the Bulgarian Association of Prader Willy.
On 19/09/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 482. The active ingredient is Sulfonated monophosphorylated mannose oligosaccharide for treatment of hepatocellular carcinoma.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Paternal mosaicism and hereditary angioedema in a Taiwanese family. (Ann Allergy Asthma Immunol. 2007 Oct;99(4):375-9.). Authors are Yu TC Shyur SD Huang LH et al., from the Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. Hereditary angioedema (HAE) is a rare disorder characterized by recurrent attacks of localized subcutaneous or submucosal edema. It is inherited in an autosomal dominant fashion and caused by a deficiency of C1 inhibitor (C1 INH). Most patients with HAE have an absolute deficiency of C1 INH (type I HAE), whereas the rest (approximately 15%) synthesize a dysfunctional C1 INH protein (type II HAE). Mosaicism is rare in HAE.Parental mosaicism is a possible explanation for normal C1 INH plasma concentrations in both parents despite clinically apparent HAE in the children. To access the full abstract of the article, click here.
On 19/09/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 481. The active ingredient is R-salbutamol sulphate for treatment of cutaneous forms of lupus erythematosus.
A new disease profile is added to our database – Mastocytosis. Mastocytosis is a disorder characterized by mass cell proliferation and accumulation within various organs, most commonly the skin. Whether mastocytosis is a hyperplastic reaction to an unknown stimulus or whether it is a neoplastic condition is unknown. The disease can be manifested by cutaneous and systemic symptoms, acute and/or chronic clinical course. Most of the patients report itching cutaneous lesions. Mastocytosis affects males and females equally (no known sex predilection). To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in dermatology – Dr. Ivelina Yordanova, MD, PhD
On 19.09.2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 470. The active ingredient is Човешки хетероложни чернодробни клетки за инфузия for treatment of ornithine-transcarbamylase deficiency.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Thrombotic thrombocytopenic purpura and Graves disease (Am J Med Sci. 2007 Aug;334(2):133-5). Authors are Chaar BT Kudva GC Olsen TJ et al., from the Department of Internal Medicine, Saint Louis University School of Medicine, Saint Louis, Missouri 63110, USA. Patients with an autoimmune disease have a propensity for development of a second autoimmune disease. We report the first instance of a patient with both idiopathic thrombotic thrombocytopenic purpura (TTP) and Graves disease. The TTP remitted with a combination of plasmapheresis and prednisone. Methimazole led to sustained remission of the hyperthyroid state within 6 weeks. Although hyperthyroidism may induce immune imbalance causing autoimmunity, it is unclear if this influenced the development of TTP in our patient and if treatment of hyperthyroidism alone could have resulted in the cure of both diseases. To access the full abstract of the article, click here.
On 22.3.2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 443. The active ingredient is Elafin for treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.