PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Cluster headache (Orphanet Journal of Rare Diseases 2008;3:20). Authors are Elizabeth Leroux and Anne Ducros. Cluster headache (CH) is a primary headache disease characterized by recurrent short-lasting attacks (15 to 180 minutes) of excruciating unilateral periorbital pain accompanied by ipsilateral autonomic signs (lacrimation, nasal congestion, ptosis, miosis, lid edema, redness of the eye). It affects young adults, predominantly males. Acute treatment is based on subcutaneous administration of sumatriptan and high-flow oxygen. Verapamil, lithium, methysergide, prednisone, greater occipital nerve blocks and topiramate may be used for prophylaxis. To access the full text of the article, click here.
On 3/06/2008, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 547. The active ingredient is Anti-von Willebrand Aptamer for treatment of thrombotic thrombocytopenic purpura (TTP).
A new disease profile is added to our database – Whipple disease. Whipple disease constitutes a rare, relapsing, slowly progressive, infectious, systemic illness that typically infects the small intestine and causes malabsorption primarily but may affect anypart of the body including the heart, lungs, brain, joints, and eye. 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.
National registry of patients with thalassemia major in Bulgaria is a project in the field of rare diseases which BAPES started in August 2008. Its aim is to establish an epidemiological tool to identify and follow up regularly the medical history of each patient. The registry will help doctors, scientists and health authorities to determine the incidence, prevalence, long-term clinical outcome and quality of life of Bulgarian patients with thalassemia major. They will also be able to compare overall management of thalassemia patients in Bulgaria with other countries. Moreover, this experience could be used as a model for starting registries for other rare diseases in the country. Initial data, based on consensus of the national expert group for thalassemia major show that currently there are 211 patients treated at 7 regional centres – Sofia (72), Plovdiv (54), Stara Zagora (37), Varna (23), Burgas (14), Pleven (11). This project is currently awaiting its final approval through the Commission for personal data collection and expected to start effectively in September 2009.
On 5th of July 2008 in Sofia took place a meeting of patients with renal cell carcinoma and their relatives. The main purpose of this event was to establish a national association of patients with renal cell carcinoma that will serve as a bridge between the people with this rare disease and the public health care system by advocating for the basic human right to receive contemporary and equal medical care.
A new disease profile is added to our database – Lennox-Gastaut Syndrome (LGS). LGS is characterized by the triad of multiple types of generalized seizures (tonic, atypical absences and atonic), diffuse slow spikes-and-waves on EEG and mental retardation.To receive more detailed information about the disease, please click here and send us a request. The profile was written by our consultant in pediatrics – Assoc. prof Ivan Ivanov, MD, PhD.
This month there were important changes in the ICRDOD team. Mrs. Marieta Igarenska left the Centre and will continue her professional career as a psychologist. Mr. George Iskrov joins the ICRDOD team as a technical assistant. Good luck to Marieta and welcome to George!
On 10/07/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 457. The active ingredient is Lusupultide for treatment of aspiration pneumonitis requiring intubation and mechanical ventilation.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Chediak-Higashi syndrome. (Curr Opin Hematol. 2008 Jan;15(1):22-9.). Authors are Kaplan J De Domenico I Ward DM et al., from the Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA. Chediak-Higashi syndrome, a rare autosomal recessive disorder, was described over 50 years ago. Patients show hypopigmentation, recurrent infections, mild coagulation defects and varying neurologic problems. Treatment is bone marrow transplant, which is effective in treating the hematologic and immune defects, however the neurologic problems persist.Clinical reports of Chediak-Higashi syndrome have identified mutations throughout the CHS1/LYST gene.The nature of the mutation can be a predictor of the severity of the disease.Understanding the basic mechanisms. will provide essential information regarding how loss of CHS1/LYST affects hematologic, immunologic and neurologic processes. To access the full abstract of the article, click here.
On 28/11/07, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 494. The active ingredient is Lenalidomide for treatment of chronic lymphocytic leukaemia.