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.