Information Centre for Rare Diseases and Orphan Drugs :

Pelvic actinomycosis

Tue, 15 Apr 2008 10:10:00 -0700

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Pelvic actinomycosis presenting with a large abscess and bowel stenosis with marked response to conservative treatment: a case report. (J Med Case Reports. 2007 Nov 21;1(1):141). Authors are Nozawa H Yamada Y Muto Y et al.. Pelvic actinomycosis is a rare disease that can result in abscess formation, bowel obstruction, and other serious complications. The correct diagnosis can seldom be established before radical surgery because the disease often mimics pelvic neoplasms. Pelvic actinomycosis is associated with long-term use of an intrauterine contraceptive device. We report a woman with a long-standing intrauterine contraceptive device who complained of symptoms mimicking large bowel ileus with a subacute course.A cervical Papanicolaou smear disclosed Actinomyces species.The intrauterine device was removed. High-dose ampicillin administration led to dramatic shrinkage of the abscess and improved bowel movement. To access the full abstract of the article, click here.

Preconception Health and Prevention of Birth Defects

Mon, 14 Apr 2008 10:10:00 -0700

The 1st Central and Eastern European Summit on Preconception Health and Prevention of Birth Defects will take place on August 27-30, 2008, in Budapest, Hungary. It is hosted by the Research and Prevention for Families Foundation and the Hungarian Congenital Abnormality Registry. The Conference Goal is to provide a platform for review, analysis and discussion of the promotion of womens health before, during and beyond pregnancy, and the role of preconception health and health care in the prevention of birth defects in the Central and Eastern European region. For more information and registrations click here.

Clinical, pathological and radiological evaluation of disseminated Langerhans' cell histiocytosis

Fri, 11 Apr 2008 21:40:00 -0700

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Clinical, pathological and radiological evaluation of disseminated Langerhans' cell histiocytosis in a 30-month-old boy. (Dentomaxillofac Radiol. 2007 Dec). Authors are Baltacioglu E Senel F Ozen B et al., from the Department of Periodontology, Faculty of Dentistry, Karadeniz Technical University, 61100 Trabzon, Turkey. Langerhans' cell histiocytosis is a rare disease characterized histologically by the proliferation of Langerhans' cells. Oral involvement is frequent and the disease simulates severe localized periodontitis. In this report, we present a case of disseminated Langerhans' cell histiocytosis in a 30-month-old boy who had a mass covering the entire maxillopalatine region and suffered severe periodontal destruction in the posterior maxilla and mandible. We discuss the radiological, histopathological and immunohistochemical findings. To access the full abstract of the article, click here.

People with rare diseases in Bulgaria get mobilized

Tue, 25 Mar 2008 23:00:00 -0700

People with rare diseases in Bulgaria get mobilized and create patient associations and support groups until waiting the governmental institutions to put in action the lumpy bureaucratic machine. Tree websites operate actively already: Life with Cystic Fibrosis (CF) is the site of the patient association for CF, www.lifewithcf.org; www.nae.saita.eu is the site for Hereditary Angioedema (HAE); www.cdls-bg.org - the site for Cornelia de Lange Syndrome (Cdls). Those sites are created and moderated by patients with rare diseases themselves and/or by their relatives and friends. Besides giving information on the disease, they build bridges overcoming distances and spaces and turn into a connecting thread among people who suffer in rare diseases and their families.

Parliamentary discussions on rare diseases in Bulgaria

Fri, 21 Mar 2008 10:40:00 -0700

At a regular meeting on 13 March 2008, the Healthcare Committee at the Bulgarian National Assembly started discussion on issues concerning prevention, diagnosis, treatment and rehabilitation of people with rare diseases in Bulgaria. The meeting`s verbatim record is available on-line.

Treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension

Fri, 21 Mar 2008 10:20:00 -0700

On 20/03/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 443. The active ingredient is Elafin for treatment of pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension.

Breast cancer in males

Thu, 20 Mar 2008 10:20:00 -0700

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Breast cancer in males: a PGIMER experience (J Cancer Res Ther. 2005 Jan-Mar;1(1):31-3). Authors are Rai B Ghoshal S Sharma SC et al., from the Department of Radiotherapy, Post Grade Institute of Medical Education and Research, Chandigarh, India. Male breast cancer is a rare disease representing 1% of all breast cancers and less than 1% of all cancers in men.The aim of the study was to observe the clinical and pathological features, evaluate the prognostic factors and to co-relate the outcome in patients of male breast cancer. Modified radical mastectomy followed by external radiation therapy is the standard treatment for male breast cancer. Hormone therapy, as an adjuvant treatment, is the first line approach in a majority of patients and chemotherapy is reserved for patients with poor prognostic factors. To access the full abstract of the article, click here.

Evolution of antiglomerular basement membrane glomerulonephritis into membranous glomerulonephritis

Wed, 19 Mar 2008 10:10:00 -0700

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Evolution of antiglomerular basement membrane glomerulonephritis into membranous glomerulonephritis. ( Pediatr Nephrol. 2007 Nov 13; ). Authors are Hecht N Omoloja A, Witte D et al., from the Department of Pediatrics, Wright State University Boonshoft School of Medicine, Dayton, OH, USA. Antiglomerular basement membrane glomerulonephritis (anti-GBM GN) is a rare disease characterized by autoantibodies to the alpha 3 chain of type IV collagen in the GBM. It is also known as Goodpasture's syndrome when associated with pulmonary hemorrhage due to autoantibodies to the alpha 3 chain of type IV collagen also present in pulmonary alveoli. Even more rare is the evolution of anti-GBM GN into membranous nephropathy (MN). We report the management of a 9-year-old Caucasian girl with anti-GBM GN that evolved into MN and briefly review the literature. To access the full abstract of the article, click here.

Progressive Multifocal Leukoencephalopathy

Tue, 18 Mar 2008 10:10:00 -0700

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Progressive Multifocal Leukoencephalopathy (Curr Neurol Neurosci Rep. 2007 Nov;7(6):461-469). Authors are Berger JR. from the Department of Neurology, University of Kentucky College of Medicine, USA. Progressive multifocal leukoencephalopathy (PML) was a rare disease until the advent of the HIV/AIDS pandemic. Recent interest in the disorder has been spurred by its appearance in patients treated with the monoclonal antibodies natalizumab and rituximab. Unless the accompanying underlying immune deficit can be reversed, PML typically progresses to death fairly rapidly. Treatment directed against the JC virus has been unhelpful, but an increased understanding of disease pathogenesis may result in effective therapeutic strategies. To access the full abstract of the article, click here.

Treatment of non-traumatic osteonecrosis

Mon, 17 Mar 2008 10:10:00 -0700

On 29/10/2007, a new orphan medicinal product was registered into the community register of orphan medicinal products under the EU orphan designation number 490. The active ingredient is Human autologous bone-forming cells derived from bone marrow stem cells for treatment of non-traumatic osteonecrosis.