PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Fucosidosis: MRI and MRS findings.” (Pediatr Radiol. 2007 Aug 18). Authors are Oner AY, Cansu A, Akpek S, et al, from the Department of Radiology, Gazi University School of Medicine, Ankara, Turkey. Fucosidosis is a rare, autosomal recessive lysosomal storage disease in which fucose-containing glycolipids, glycoproteins, and oligosaccharides accumulate in tissues as a consequence of alpha-L: -fucosidase enzyme deficiency. The authors present the MR imaging findings of diffuse white-matter hyperintensity and pallidal curvilinear streak hyperintensity in a 6-year-old Caucasian girl with a diagnosis of fucosidosis based on cDNA isolated from skin fibroblasts. To access the full abstract of the article, click here.
On 22 February 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 435. The active ingredient is recombinant human C1-inhibitor for prevention of delayed graft function after solid organ transplantation.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Outcome of renal transplantation in patients with hemolytic uremic syndrome.” (Clin J Am Soc Nephrol. 2006 Jan;1(1):88-99). Authors are Bresin E, Daina E, Noris M, et al., from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, 24020 RANICA (Bergamo), Italy. More than 50% of patients with non-Shiga toxin-associated hemolytic uremic syndrome (non-Stx-HUS) progress to end-stage renal disease (ESRD). The aim of this study was to identify possible prognostic factors for renal transplant outcome by focusing on specific genetic abnormalities associated with the disease. All articles in literature that describe renal transplant outcome in patients with ESRD secondary to non-Stx-HUS, genotyped for CFH, MCP, and IF mutations, were reviewed, and data of patients who were referred to the International Registry of Recurrent and Familial HUS/TTP and data from the Newcastle cohort were examined. This study confirmed that the overall outcome of kidney transplantation in patients with non-Stx-HUS is poor, with disease recurring in 60% of patients, 91.6% of whom developed graft failure. The presence of a factor H (CFH) mutation was associated with a high incidence of graft failure (77.8 versus 54.9% in patients without CFH mutation). Similar results were seen in patients with a factor I (IF) mutation. In contrast, graft outcome was favorable in all patients who carried a membrane co-factor protein (MCP) mutation. To access the full abstract of the article, click here.
On 17 April 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 434. The active ingredient is pralatrexate for treatment of peripheral T-cell lymphoma (nodal, other extranodal and leukaemic/disseminated).
Provoked by the number of questions asked by parents of DMD children, the team of the ICRDOD contacted Mrs. Pat Furlong – President of the Parent Project Muscular Dystrophy. She gave her agreement for translation of articles, concerning different aspects of the families living with DMD. The materials were translated by the voluntary work of number of mothers, who responded to our appeal for support from the Internet forum of bg-mamma.com. At the moment, the materials are under edition by our consultant in neurology Dr. Pavel Balabanow. Very soon, they will be published on our site. We sincerely hope to make the daily life of the families with DMD easier.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Abdominal tuberculosis: a surgical reality.” (Chirurgia (Bucur). 2007 May-Jun;102(3):303-8). Authors are Tarkoveanu E, Filip V, Moldovanu R, et al., from the Clinica I Chirurgie, Spitalul Sf. Spiridon, Iaşi. Abdominal tuberculosis is a rare disease, with non-specific findings. In this article the records of 22 patients diagnosed with abdominal tuberculosis (TBC) between 1995 and 2006 were analyzed retrospectively and the literature was reviewed. Postoperatory evolution and management were applied by the TBC Medical System and the patients were treated 6 months by tuberculostatics, with favorable evolution. Abdominal tuberculosis should be considered for diagnosis, in patients with non-specific symptoms of abdominal pain, fever, loss of appetite, abdominal distension and even symptoms of acute abdomen. To access the full abstract of the article, click here.
The Bulgarian Association of Prader Willy is officially registered as a non-profit non-governmental organization in a public benefit. Chairman of the association is Mr. Stanimir Tzonev. The association unifies people affected by Prader Willi syndrome in Bulgaria and will support their efforts toward achievement of better quality of life.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Variable responses to rituximab treatment in Devic’s disease.” (Neurol Sci. 2007 Aug;28(4):209-11). Authors are Capobianco M, Malucchi S, di Sapio A, et al., from the Centro di Riferimento Regionale Sclerosi Multipla & Neurobiologia Clinica – ASO S. Luigi Gonzaga, Regione Gonzole, Orbassano (TO), Italy. Devic’s disease, a combination of optic neuritis and myelitis, is a rare diseases also known as a neuromyelitis optica. It is an uncommon pattern of demyelinating disorder. The authors described two cases of Devic’s disease patients treated with rituximab with different outcomes. The results indicate that there may be early unresponsiveness in very aggressive cases. Well designed clinical trials are needed to assess treatment effects in such a rare disease. To access the abstract of the article, click here.
On 19 February 2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 433. The active ingredient is HLA class I/II binding tumour associated peptides (ADF-APO-CCN-GUC-K67-MET- MMP-MUC-RGS) for treatment of renal cell carcinoma.
The National Alliance of People with Rare Diseases was juridical registered under Bulgarian law as a non-profit non-governmental organization in a public benefit. Congratulations to all members of the Alliance and great success in their nobel mission devoted to the improvement of the quality of live of people with rare diseases in Bulgaria!