On 13 April 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 364. The active ingredient is sorafenib tosylate for treatment of hepatocellular carcinoma.
admin
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy” (Ned Tijdschr Geneeskd. 2006 May 20;150(20):1124-6). Authors are Schreuder AH, de Die-Smulders CE, Herbergs J et al from the Atrium Medisch Centrum, afd Neurologie, Heerlen. Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the ‘poly adenylate binding nuclear I protein’ (PABN1) gene. To access the full abstract of the article, click here.
The ICRDOD was awarded a HONcode certificate, which gives us the statute of a reliable sources of healthcare information in cyberspace. The Health on the Net Foundation Code of Conduct (HONcode) for medical and health Web sites addresses one of Internet\’s main healthcare issues: the reliability and credibility of information. The Health On the Net Foundation has elaborated the Code of Conduct to help standardise the reliability of medical and health information available on the World-Wide Web.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Myotonia congenital – a successful response to carbamazepine” (Indian J Pediatr. 2006 May;73(5):431-3 ). Authors are Savitha MR, Krishnamurthy B, Hyderi A et al, from the Department of Pediatrics, Government Medical College, Mysore, India. Myotonia congenita is a rare disease of skeletal muscle characterized by painless myotonia, generalized muscular hypertrophy and a non-progressive course. The authors report a 10-year-old girl with myotonia, “Herculean appearance” and electromyographic confirmation of myotonic discharges. There was a dramatic response to carbamazepine. The aim of this report is to make the readers aware of this entity which can be easily controlled with medication and also prevented by genetic counseling. To access the abstract of the article, click here.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “C1-inhibitor (C1-INH) autoantibodies in hereditary angioedema. Strong correlation with the severity of disease in C1-INH concentrate naive patients.” (Mol Immunol. 2006 Jun 2). Authors are Varga L, Szeplaki G, Visy B et al, from the 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary. The presence of autoantibodies to C1-inhibitor (C1-INH-Abs) is a hallmark of acquired C1-inhibitor deficiency. In a prospective study performed between 2001 and 2004 in 95 patients with Type I or II HAE, serum samples were tested for total activity of the classical pathway, C1q, C3, C4 and C1-inhibitor (C1-INH) concentration and activity levels, as well as the presence of IgG, IgA and IgM type anti-C1-inhibitor antibodies (C1-INH-Ab). The levels of the IgM C1-INH-Abs exhibited strong negative correlation to the C1-inhibitor concentration and functional activity, total classical complement pathway activity, and a positive correlation to total IgM concentration. Most probable production of these autoantibodies is the consequence of the activation of complement and other plasma enzyme systems during HAE attacks. To access the full abstract of the article, click here.
On May 8, 2006 the Netherlands Central Committee on Research involving Human Subjects (CCMO) and the Medical Ethics Committee (IRB) of LUMC gave their permission to be performed an exploratory study on the efficacy, safety and tolerability of a single intramuscular dose of antisense oligoribonucleotide to restore production of the dystrophin, the protein defective in Duchenne Muscular Dystrophy (DMD) patients. This very first in-human trial using antisense oligonucleotide, a ‘smart reagent’ removing an unwanted segment of the faulty DMD gene product, represents a major step toward the development of an effective therapy for DMD.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Multicentric extra-abdominal fibromatosis: a rare case” (Z Orthop Ihre Grenzgeb. 2006 Mar-Apr;144(2):223-7). Authors are Ropke M, Kalinski T, Wordehoff H еt al., from the Orthopadische Universitatsklinik, Otto-von-Guericke-Universitat Magdeburg. Extra-abdominal aggressive fibromatosis is a benign fibroblastic neoplasia with an infiltrative nature and a high tendency of local recurrence. The authors report on a very rare case of multicentric fibromatosis. Low complaints led to considerable size of the tumours. To access the full abstract of the article, click here.
The 39th Annual Meeting of the ESPGHAN (European Society for Pediatric Gastroenterology, Hepatology and Nutrition) will be hold on 7-10 June 2006 in Dresden, Germany. The scientific programme will comprise keynote lectures presenting the most up-to-date knowledge in the field. There will be a Post Graduate Course concerning the basis of nutrition, gastroenterology, hepatology, and pancreatology. More information you can find by visiting the conference`s web site www.espghan2006.org.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Poorly differentiated and anaplastic thyroid cancer” (Cancer Control. 2006 Apr;13(2):119-28). Authors are Patel Kn and Shaha AR from the Head and Neck Service, Memorial Sloan-Kettering Cancer Center, New York, USA. Poorly differentiated thyroid carcinoma (PDTC) and anaplastic (undifferentiated) thyroid carcinoma (ATC) comprise a small subset of thyroid tumors that are associated with a poor prognosis and account for a significant portion of the morbidity and mortality related to thyroid cancer. Since management strategies vary between these two entities, it is important for clinicians to be able to differentiate PDTC from ATC. The authors reviewed the literature on PDTC and ATC and compared clinical and histopathologic features important in defining the disease process. The conclusions are that PDTC and ATC are rare diseases that carry a poor prognosis. Recognition of their different clinicopathologic features is important to the optimal management of these tumors. To access the full abstract of the article, click here.
On 13 April 2006, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 363. The active ingredient is 4-[131I”>iodo-L-phenylalanine for treatment of glioma.