At a regular meeting on 13 March 2008, the Healthcare Committee at the Bulgarian National Assembly started discussion on issues concerning prevention, diagnosis, treatment and rehabilitation of people with rare diseases in Bulgaria. The meeting`s verbatim record is available on-line.
On 20/03/2007, 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.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Breast cancer in males: a PGIMER experience (J Cancer Res Ther. 2005 Jan-Mar;1(1):31-3). Authors are Rai B Ghoshal S Sharma SC et al., from the Department of Radiotherapy, Post Grade Institute of Medical Education and Research, Chandigarh, India. Male breast cancer is a rare disease representing 1% of all breast cancers and less than 1% of all cancers in men.The aim of the study was to observe the clinical and pathological features, evaluate the prognostic factors and to co-relate the outcome in patients of male breast cancer. Modified radical mastectomy followed by external radiation therapy is the standard treatment for male breast cancer. Hormone therapy, as an adjuvant treatment, is the first line approach in a majority of patients and chemotherapy is reserved for patients with poor prognostic factors. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Evolution of antiglomerular basement membrane glomerulonephritis into membranous glomerulonephritis. ( Pediatr Nephrol. 2007 Nov 13; ). Authors are Hecht N Omoloja A, Witte D et al., from the Department of Pediatrics, Wright State University Boonshoft School of Medicine, Dayton, OH, USA. Antiglomerular basement membrane glomerulonephritis (anti-GBM GN) is a rare disease characterized by autoantibodies to the alpha 3 chain of type IV collagen in the GBM. It is also known as Goodpasture’s syndrome when associated with pulmonary hemorrhage due to autoantibodies to the alpha 3 chain of type IV collagen also present in pulmonary alveoli. Even more rare is the evolution of anti-GBM GN into membranous nephropathy (MN). We report the management of a 9-year-old Caucasian girl with anti-GBM GN that evolved into MN and briefly review the literature. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Progressive Multifocal Leukoencephalopathy (Curr Neurol Neurosci Rep. 2007 Nov;7(6):461-469). Authors are Berger JR. from the Department of Neurology, University of Kentucky College of Medicine, USA. Progressive multifocal leukoencephalopathy (PML) was a rare disease until the advent of the HIV/AIDS pandemic. Recent interest in the disorder has been spurred by its appearance in patients treated with the monoclonal antibodies natalizumab and rituximab. Unless the accompanying underlying immune deficit can be reversed, PML typically progresses to death fairly rapidly. Treatment directed against the JC virus has been unhelpful, but an increased understanding of disease pathogenesis may result in effective therapeutic strategies. To access the full abstract of the article, click here.
On 29/10/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 490. The active ingredient is Human autologous bone-forming cells derived from bone marrow stem cells for treatment of non-traumatic osteonecrosis.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pulmonary Hypertension: Evaluation and Management (Compr Ther. 2007 Sep;33(3):150-161.). Authors are heresi GA Dweik R, from the Department of Pulmonary, Allergy and Critical Care Medicine, Cleveland Clinic, USA.. Pulmonary hypertension (PH) is a hemodynamic state characterized by elevation in the mean pulmonary arterial pressure and pulmonary vascular resistance leading to right ventricular failure and premature death. IPAH, formerly known as primary pulmonary hypertension (PPH), is a rare disease most commonly seen in women of childbearing age. Presenting symptoms and signs are nonspecific and include dyspnea on exertion, fatigue, and a loud pulmonary component of the second heart sound.Several targeted treatment options have become available in recent years and include parenteral and inhaled prostanoids, oral endothelin receptor antagonists, and oral phosphodiesterase type-5 inhibitors. To access the full abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Treatment of Cerebral Venous and Sinus Thrombosis (Front Neurol Neurosci. 2008;23:132-143.). Authors are Masuhr F Einhäupl K. et al., from the Department of Neurology, Charité – Universitätsmedizin Berlin, Berlin, Germany. Cerebral venous and sinus thrombosis (CVST) is a rather rare disease which accounts for less than 1% of all strokes. Current therapeutic measures which are used in clinical practice include the use of anticoagulants such as dose-adjusted intravenous heparin or body weight-adjusted subcutaneous low molecular weight heparin, the use of thrombolysis, and symptomatic therapy including control of seizures and elevated intracranial pressure.There are no controlled data about the risks and benefits of certain therapeutic measures to reduce an elevated intracranial pressure (with brain displacement) in patients with severe CVST. Antiedema treatment (including hyperventilation, osmotic diuretics, craniectomy) should be used as life-saving interventions. To access the full abstract of the article, click here.
On 29/10/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 491. The active ingredient is Interferon gamma for treatment of idiopathic pulmonary fibrosis.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Anaphylaxis in childhood and adolescence. (Hautarzt. 2007 Nov 14). Authors are Ott H Lehmann S Wurpts G et al., from the Klinik für Dermatologie und Allergologie, Universitätsklinikum der RWTH Aachen, Pauwelsstraße 30, 52074, Aachen, Deutschland. Anaphylaxis represents a severe, systemic and potentially fatal hypersensitivity reaction that severely impairs the life of affected children. Foods are the most frequent triggers in children; less frequent causes include drugs and insect venom. Particularly in case of idiopathic anaphylaxis, systemic mastocytosis should be ruled out as a potential differential diagnosis in this age group as well. First line emergency treatment consists of parenteral epinephrine in a weight-adjusted dosage, and after cardiovascular stabilization systemic antihistamines and corticosteroids as well as inhaled beta-mimetics can be administered. To access the full abstract of the article, click here.