PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Tetrathiomolybdate, a copper chelator for the treatment of Wilson disease, pulmonary fibrosis and other indications. (IDrugs. 2008 Aug;11(8):592-606.). Authors are Medici V Sturniolo GC from the University of California, Davis, Division of Gastroenterology and Hepatology, Department of Internal Med, Sacramento, CA 95817, USA. Tetrathiomolybdate (TTM) is a copper chelator that has also demonstrated antiangiogenic, antifibrogenic and anti-inflammatory actions in preclinical studies. In a phase III clinical trial, TTM stabilized neurological function in patients with Wilson disease, causing significant recovery in 81% of patients at 3 years post initiation of therapy; a second phase III trial was ongoing at the time of publication. TTM is predicted to most likely find a niche in the therapy of Wilson disease, for which current treatment options are limited. To access the full abstract of the article, click here.
On 23 December 2008, Christmas Charity Cocktail will take place at Pavilion 3 of the Plovdiv International Fair. The event is organized by the City Council of the Bulgarian Socialist Party, Members of the Plovdiv City Council from Coalition for Plovdiv, the Information Center for Rare Diseases and Orphan Drugs and the National Alliance of People With Rare Diseases and supported by Mr. Zahari Georgiev, member of the Parliament, Mr. Todor Petkov, head of the administration of Plovdiv Region and Mr. Georgi Gergov, honorary consul of the Russian Federation in Plovdiv. The official clip of the campaign is “Give Me a Hand, Together We Can Help!”.
On 27th of November 2008, the Council of Ministers adopted the National Plan for Rare Diseases – genetic disorders, congenital malformations and nonhereditary diseases (2009-2013). The plan consists of the following 9 priorities:
1. Collecting epidemiological data for the rare diseases in Bulgaria by creation of a national register.
2. Improvement of the prevention of the genetic rare diseases by enlarging the current screening programmes.
3. Improvement of the prevention and diagnostics of the genetic rare diseases by introducing new genetic tests, decentralisation of the laboratory activities and easier access to medico-genetic counseling.
4. Integrative approach to the prevention, diagnostics, medical treatment and social integration of patients and their families.
5. Promotion of the professional qualification of medical specialists in the field of early diagnostics and prevention of rare diseases.
6. Feasibility study on the necessity, possibility and criteria for creation of a referent centre for rare diseases of functional type.
7. Organising a national campaign for informing the society about rare diseases and their prevention.
8. Support and collaboration with NGOs and patient associations for rare diseases.
9. Collaboration with the other EU members.
The total budget of the plan is 22 103 098 BGN. An English version of the National Plan for Rare Diseases will be published soon on our website.
On November 21-22 First National Conference for Rare Diseases “ONCOLOGY AND HEMATOLOGY” will be held in Dedeman Trimontium Princess Hotel in Plovdiv. This workshop aims to set a series of thematic national meetings on rare diseases that will unite at one place physicians, patients and representatives of state institutions. The prevalence, diagnostics, medical treatment, rehabilitation and social cares for people with rare oncological and hematological diseases will be discussed. For more information – popova@raredis.org, iskrov@raredis.org.
On 11th November 2008, the European Commission adopted a Communication and a proposal for a Council Recommendation on rare diseases setting out an overall Community strategy to support Member States in diagnosing, treating and caring for the 36 million EU citizens with rare diseases. Please see below links to the Communication, the proposal for a Council Recommendation, the Impact Assessment, and various media resources related to the launch of the Communication. For more information – click here and here.
On November 11th a prayer service will be held at Saint Minas Orthodox Church in Plovdiv by the Metropolitan Bishop of Plovdiv, His Eminence Nicholas. The occasion for that is the day of Saint Martyrs Minas and Vincent, the patrons of unwell people. During the liturgy His Eminence will pray for the health of people with rare diseases.
A new disease profile is added to our database – DiGeorge Syndrome. DiGeorge Syndrome is a rare primary immune disorder with congenital absence of the thymus and parathyroid glands, as a result of which the T lymphocytes providing cellular immune response, are absent. An underdevelopment of the third and fourth pharyngeal pouches during prenatal stage (between 2-8 weeks inclusive) is observed. These pouches give rise to the following structures: thymus, parathyroids, aortic arch, portions of the lips and ears. To receive more detailed information about the disease, please click here and send us a request. The profile was written by our consultant in microbiology and immunology – Assoc. Prof. Marianna Murdjeva, MD, PhD
On November 11th prayer services for the health of the people with rare diseases will be held at all Orthodox churches of Pazardzhik Region. That’s on the occasion of the day of Saint Martyrs Minas and Vincent, the patrons of unwell people. A day earlier, on November 10th a liturgy will be held at Blessed Virgin Mary Church in the city of Pazardzhik. For more information please contact Mr. Stoil LAZAROV (mobile phone +359 899 999 698).
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Analbuminemia Zonguldak: Case report and mutational analysis (Clin Biochem. 2007 Dec 5). Authors are Caridi G Dagnino M Dalgic B et al, from the Laboratory on Pathophysiology of Uremia, Genova, Italy. To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait.Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons and their flanking intron regions. Our results define a new molecular defect in the albumin gene. 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 Huge hemispheric intraparenchymal cyst caused by Taenia multiceps in a child. Case report (J Neurosurg. 2007 Dec;107(6 Suppl):511-4.). Authors are Benifla M Barrelly R Shelef I et al, from the Department of Neurosurgery, Soroka University Medical Center and Ben-Gurion University of the Negev, Beer Sheva, Israel. The authors report an unusual case of a huge intraparenchymal cyst in a 4-year-old girl caused by Taenia multiceps infection. After surgical removal of the cyst, the child recovered completely. Brain infestation by coenurus is a rare disease, mainly reported in Africa, with a few case reports from patients in developed countries. Humans, especially young children, become intermediate hosts by ingesting eggs passed in the excrement of a definitive host, usually carnivores. In such cases, high mortality and morbidity rates have been reported. These rates decreased after the introduction of the modem neuroradiological techniques of computed tomography and magnetic resonance imaging. To access the full abstract of the article, click here