PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Recognizing involuntary emotional expression disorder. (J Neurosci Nurs. 2007 Aug;39(4):202-7). Authors are Robinson-Smith G and Grill JD from the Villanova University’s College of Nursing, Villanova, PA, USA. Involuntary crying or laughing are symptoms of a condition known as involuntary emotional expression disorder (IEED). This disorder is common among patients with stroke and other neurological disorders, such as multiple sclerosis, amyotrophic lateral sclerosis, and traumatic brain injury.IEED can become disabling for patients who are not accurately diagnosed and treated. When the condition is found to be present, effective management must include education, pharmacological treatment, and teaching of self-care strategies. To access the full abstract of the article, click here.
On 14/09/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 473. The active ingredient is Aviptadil for treatment of sarcoidosis.
The European Commission starts public consultations on actions in the field of Rare Diseases. This announcement is published on the website of the Commission. Three main topics will be discussed. The most important social impact to us has the second one: Encouraging the EU Member States in developing national health policies. An expert from our Information Centre for Rare Diseases and Orphan Drugs attended the preliminary consultations regarding the European Action in the field of Rare Diseases and contributed as a member of the drafting group. In few weeks, the information about the public consultation will be available in Bulgarian.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Motor unit number estimation (mune) as a quantitative measure of disease progression and motor unit reorganization in amyotrophic lateral sclerosis (Int J Neurosci. 2007 Sep;117(9):1229-36). Authors are Sartucci F Maritato P Moscato G et al. from the Department of Neuroscience, Clinical Neurophysiology, Pisa University Medical School, Pisa, Italy. Motor Unit Number Estimation (MUNE), a technique allowing to estimate the number of functioning Motor Units (MU) in single muscles, was used to score the disease’s severity and progression rate in a group of 58 patients with Amyotrophic Lateral Sclerosis (ALS). The results confirm that MUNE is a suitable tool to quantify the pathological changes in MU in patients with ALS. To access the full abstract of the article, click here.
A workshop on cystic fibrosis will take place on 30 November 2007, in the 2a auditorium of the Medical University – Plovdiv, from 2:00 pm till 4:30pm. Participants will be doctors-specialists from the Medical University – Plovdiv, medical students, parents and patients affected by cystic fibrosis. The workshop is an initiative of the parents of kids with this rare diseases, in assistance and cooperation with the Information Centre for Rare Diseases and Orphan Drugs.
On 14/09/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 480. The active ingredient is Naptumomab estafenatox for treatment of renal cell carcinoma.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Infectious mononucleosis and Epstein-Barr virus. (Comp Immunol Microbiol Infect Dis. 2007 May;30(3):153-62. Epub 2007 Jan 22). Authors are Vetsika EK and Callan M from the Division of Medicine, Imperial College, Chelsea and Westminster Hospital, 369 Fulham Road, London, SW10 9NH, UK. Epstein-Barr virus (EBV) is a herpesvirus that infects over 90% of the human population worldwide. It is transmitted between individuals in saliva, and establishes replicative infection within the oropharynx as well as life-long latent infection of B cells. Primary EBV infection occurs during childhood and is asymptomatic. If delayed until adolescence, it can be associated with the clinical syndrome of infectious mononucleosis – an illness characterised by fevers, pharyngitis, lymphadenopathy and malaise. EBV infection is also associated with the development of EBV-associated lymphoid or epithelial cell malignancies in a small proportion of individuals. This review focuses on primary EBV infection in individuals suffering from infectious mononucleosis. To access the full abstract of the article, click here.
A new disease profile is added to our database – Dancing eyes syndrome. Dancing eyes syndrome (also known as an opsoclonus – myoclonus – ataxia syndrome, OMA) is an extremely rare disorder of unknown causes, involving the nervous system. It is characterized by an unsteady trembling gait, opsoclonus (irregular, multivectorial rapid eye movements), myoclonus (brief involuntary muscle spasms). The estimated frequency is as few as 1 in 10 milion people per year. Dancing eyes syndrome is now accepted as a paraneoplastic auto-immune process, involving nervous system. There is a clear, but not invariable association with neuroblastoma (NB) in children and some of the neoplasms in adults. It may occur in association with viral infections (Epstein-Barr, Coxackie B, enteroviruses). To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in pediatrics hematology – Dr. Katya Sapunarova, MD.
On 14/09/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 474. The active ingredient is Alpha-1 proteinase inhibitor (inhalation use) for treatment of cystic fibrosis.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled The role of reactive oxygen species in the hearts of dystrophin-deficient mdx mice. ( Am J Physiol Heart Circ Physiol. 2007 Sep;293(3):H1969-77.). Authors are Williams IA and Allen DG from the Bosch Institute, School of Medical Sciences, University of Sydney F13, NSW 2006 Australia. Duchenne muscular dystrophy (DMD) is caused by deficiency of the cytoskeletal protein dystrophin. Oxidative stress is thought to contribute to the skeletal muscle damage in DMD; however, little is known about the role of oxidative damage in the pathogenesis of the heart failure that occurs in DMD patients. The dystrophin-deficient (mdx) mouse is an animal model of DMD that also lacks dystrophin. The current study investigates the role of the antioxidant N-acetylcysteine (NAC) on mdx cardiomyocyte function, Ca(2+) handling, and the cardiac inflammatory response.Therapies designed to reduce oxidative damage might be beneficial to DMD patients with heart failurе. To access the full abstract of the article, click here.