PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Arrhythmogenic right ventricular cardiomyopathy/dysplasia (Orphanet Journal of Rare Diseases 2007, 2:45doi:10.1186/1750-1172-2-45). Authors are Gaetano Thiene Domenico Corrado and Cristina Basso. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes.The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement, that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular failure, requiring transplantation. To access the full abstract of the article, click here.
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Third Eastern European Conference on Rare Diseases and Orphan Drugs “RARE DISEASES – PREVENTION, DIAGNOSIS, TREATMENT” 1-2 March 2008 – Plovdiv, Bulgaria. Participants from Bulgaria and Eastern Europe will present their achievements in the field of prevention, diagnosis and treatment of rare diseases by oral presentations and posters During the conference, a specialized workshop with speakers from leading USA, European and Bulgarian organisations and institutions will be carried out, who will discuss the best practices in the field of rare diseases and orphan drugs marketing and access. The conference will take place in the Congress centre of NOVOTEL – Plovdiv. For more information and registrations visit the conference website: www. conf2008.raredis.org.
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On 23/10/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 485. The active ingredient is Alvocidib for treatment of chronic lymphocytic leukaemia.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Thrombotic thrombocytopenic purpura and bone marrow necrosis as the initial presentation of lung cancer (Clin Appl Thromb Hemost. 2007 Oct;13(4):449-52). Authors are Sevinc A Kalender ME Pehlivan Y et al., from the Department of Medical Oncology, Gaziantep University, School of Medicine, Gaziantep Oncology Hospital, Gaziantep, Turkey. Thrombotic thrombocytopenic purpura (TTP) is a disseminated form of thrombotic microangiopathy. Although most cases are held to be idiopathic, its association with malignancy is well recognized, and it usually occurs at the terminal stage of cancer. Bone marrow necrosis (BMN) is another rare disorder defined pathologically as the necrosis of myeloid tissue and medullary stroma with preservation of bone. Although hematologic malignancy is the most common underlying disease associated with BMN, it can also be caused by solid tumors. The occurrence of TTP with BMN associated with lung cancer has not been reported in the English literature. 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 Laparoscopic Internal Marsupializaton for Large Nonparasitic Splenic Cysts: Effective Organ-Preserving Technique. (World J Surg. 2007 Nov 9). Authors are Palanivelu C Rangarajan M Madankumar MV et al., from the Division of Surgical Gastroenterology, Department of Surgery, GEM Hospital, India. Primary splenic cyst is a rare disease, and therefore there is no information regarding its optimal management. Most such cysts are classified as epithelial cysts. During the last few years, the laparoscopic approach has gained increasing acceptance in splenic surgery. We present our experience with the laparoscopic (organ-preserving) management of splenic cysts. Laparoscopic partial cystectomy/marsupialization is an acceptable procedure for the treatment of splenic cysts; and after short to mid-term follow-up, it seems that a reasonable rate of success is possible. To access the full abstract of the article, click here.
Third Eastern European Conference on Rare Diseases and Orphan Drugs “RARE DISEASES – PREVENTION, DIAGNOSIS, TREATMENT” 1-2 March 2008 – Plovdiv, Bulgaria. Participants from Bulgaria and Eastern Europe will present their achievements in the field of prevention, diagnosis and treatment of rare diseases by oral presentations and posters During the conference, a specialized workshop with speakers from leading USA, European and Bulgarian organisations and institutions will be carried out, who will discuss the best practices in the field of rare diseases and orphan drugs marketing and access. The conference will take place in the Congress centre of NOVOTEL – Plovdiv. For more information and registrations visit the conference website: www. conf2008.raredis.org.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Hypocalcemic seizure due to congenital rickets in the first day of life. ( Turk J Pediatr. 2007 Jul-Sep;49(3):301-3.). Authors are Erdeve O Atasay B Arsan S et al., from the Division of Neonatology, Department of Pediatrics, Ankara University Faculty of Medicine, Ankara, Turkey. Congenital rickets is considered a rare disease entity in the newborn period. Hypocalcemic seizure due to congenital rickets has been reported, but this symptom generally appears at the earliest at the end of the first month of life. A congenital rickets case presented unusually with seizure on the first day of life. Despite improved prenatal care offered today, congenital rickets still occurs. It seems that vitamin D deficiency in the neonate secondary to maternal deficiency should be a consideration for the pediatrician or neonatologist caring for newborns. Physicians should be aware of risk factors that can trigger the development of this condition. To access the full abstract of the article, click here.
On 22/10/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 497. The active ingredient is 4-[3,5-bis(trimethylsilyl)benzamido”> benzoic acid for treatment of hepatocellular carcinoma.