The visitors of our site, who are seeking more information about the rare disease scleroderma may find additional information from the International Scleroderma Network (ISN). The site of ISN is updated daily. There is a lot of information regarding some other rare diseases like lupus erythematosus, Parry-Romberg syndrome, Sjorgen`s syndrome, multiple sclerosis, as well as many news about scleroderma experts, treatment, support groups, stories, photo gallery, etc. The International Scleroderma Network`s web site address is www.sclero.org.
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PubMed, the internet portal of biomedical and life sciences literature, indexed an interesting paper, entitled „The genetic basis of bone marrow failure syndromes in children“ (Mol Genet Metab. 2005 Aug 25). Authors are Federman N and Sakamoto KM from the David Geffen School of Medicine at UCLA, Los Angeles, USA. This paper makes a review of the genetic and molecular basis of several important bone marrow failure syndromes in children, Fanconi anemia, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, congenital amegakaryocytic thrombocytopenia, dyskeratosis congenita, and severe congenital neutropenia, and the recent discoveries that have enhanced our understanding of the pathogenesis of these diseases. To access the abstract, click here.
PubMed, the internet portal of biomedical and life sciences literature, indexed an interesting study, entitled “The quality of media reports on discoveries related to human genetic diseases“ (Community Genet. 2005;8(3):133-44). Authors of the study are Holtzman NA , Bernhardt BA, Mountcastle-Shah E, et al. from the Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, Md., USA. The objectives were to examine the quality of media reports (newspapers, television and public radio) of genetic discoveries with medical relevance and factors, related to the completeness and balance of the stories. To access the abstract, click here.
PubMed, the internet portal of biomedical and life sciences literature, indexed a new interesting article, entitled “Qualitative disorders of platelets and megakaryocytes“ (J Thromb Haemost. 2005 Aug;3(8):1773-82; PMID: 16102044). Author of the article is Nurden AT from the Institut Federatif de Recherche N 4, CHU Bordeaux, Pessac, France. He discusses the fact, that qualitative disorders of platelet function and production form a large group of rare diseases which cover a multitude of genetic defects that by and large have as a common symptom, excessive mucocutaneous bleeding. To access the abstract, click here.
The Bulgarian Association for Promotion of Education and Science (BAPES) conducts a pilot study of the socio-demographic characteristics of the patients with epilepsy and the ongoing therapy and prevention by their doctors. In this research, patients with epilepsy as well as general practitioners from the town of Plovdiv and the disrtict will participate. For the purpose of this study, a specialized questionnaire has been developed, which contains two parts – for a patient and doctor. By this pilot survey, the necessary information for planning, organizing and conducting of a representative survey on patients with epilepsy in Bulgaria will be collected.
A new disease profile is added to our database – Alexander disease (AD). It is an inherited neurodegenerative disorder. AD usually presents in early infancy (0-9 mo) by progressive enlargement of the head, megalencephaly and psychomotor retardation. Other forms that are rarer have also been reported: juvenile and adult forms. GFAP (glial fibrillary acidic protein gene) is the only gene currently associated with Alexander disease. 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 paediatrics neurology – Dr. Ivan Ivanov, MD, PhD.
A new disease profile is added to our database – Friedreich Ataxia. This is a multisystem disease, affecting the cardiac, endocrine and sceletal systems. It is characterized by progressive gait and limb ataxia, a reduction or absence in position sense and areflexia in the lower extremities. Diabetes mellitus occurs in about 40% of patients. Scoliosis and pes cavus also occur often. Most patients develop symptoms before the end of puberty. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request.
The renewed web site of the First Eastern European Conference on Rare Diseases and Orphan Drugs, which took place on 27 May 2005 in the town of Plovdiv (Bulgaria) is active now. The site provides free access to the conference webcast, so that users can watch video of all presentations, download PDFs and browse the photo gallery. Visitors can benefit the opportunity to register online and stay tuned with all new events on rare diseases and orphan drugs in the region. The web site link is http://conf2005.raredis.org.
Regulation about the terms and conditions for authorization of use of medical products, designed for treatment of rare diseases was recently adopted in Bulgaria (Regulation 22/18.07.2005, SG 62/29.07.2005). This regulation enters into force on 31.12.2006 and defines the criteria, terms and conditions for definition of medical products, designed for diagnostic, prophylaxis and treatment of rare diseases. The regulation is a very important step towards providing patients with rare diseases in Bulgaria with access to the life-saving medical treatment.
PubMed, the internet portal of biomedical and life sciences literature, indexed a new interesting article, entitled “Bronchiectasis – an orphan disease? Diagnosis and treatment in the 21st century“ (Harefuah. 2005 Jun;144(6):426-32, 453; PMID: 15999563). Authors of the article Shlomi D, Shitrit D, Grubstein A and Kramer MR from the Pulmonary Institute, Rabin Medical Center (Beilinson Campus) are discussing the fact, that in developed countries bronchiectasis has been termed an “orphan disease”, while it is still common in developing countries and in lower socioeconomic classes. Today the disease is not adequately diagnosed and treated. Partial information favors the use of prolonged antibiotic treatment, mucolytic agents and inhaled corticosteroids. Treatment should be tailored to the individual.To access the abstract, click here.