PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Nonsurgical treatment of an incompletely excised primary adenocarcinoma of nonpigmented ciliary epithelium (Tumori. 2007 Sep-Oct;93(5):514-7.). Authors are Lee SW Park SH Kim IH et al. Primary adenocarcinoma of the nonpigmented ciliary epithelium (NPCE) is a very rare disease and the majority of acquired cases were treated by enucleation. We report the case of a 19-year-old man who had an adenocarcinoma arising from the NPCE. The tumor was found incidentally due to changed pupil shape. Because of the positive resection margin and to save the eye, radiotherapy rather than enucleation was performed, followed by chemotherapy. Two years after the diagnosis, the patient continues to be followed up without evidence of relapse or cataract change. To access the full abstract of the article, click here.
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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Hepaticolithiasis: Rare benign disease of the intrahepatic bile ducts ( Chirurg. 2007 Nov 28; ). Authors are Knorr C Dimmler A Hohenberger W et al., from the Chirurgische Universitätsklinik mit Poliklinik , Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland. Hepaticolithiasis is a rare disease of the intrahepatic bile ducts endemic to east Asia which also is known as oriental cholangiohepatitis. Beside strictures and metabolic disturbance, the main cause of intrahepatic stones is acquired or congenital malformation of the intrahepatic biliary ducts. In the following we show a case of hepaticolithiasis and concurrent pancreatic metaplasia. 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 455. The active ingredient is Ciclosporin for prevention of corneal graft rejection.
PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Adrenocortical carcinoma: Diagnostic work-up and treatment (Urologe A. 2007 Nov 22). Authors are Johanssen S, Brix D et al., from the Schwerpunkt Endokrinologie und Diabetologie, Medizinische Klinik und Poliklinik I, Universitätsklinik, Würzburg, Deutschland. Adrenocortical carcinoma (ACC) is a rare disease with poor prognosis. Preoperatively, a thorough hormonal work-up is mandatory, as the hormonal status may influence the perioperative management and may also provide marker hormones for monitoring of tumour recurrence. CT and MRI are equally sensitive and specific imaging tools for adrenal tumours. Open adrenalectomy via a flank or thoracoabdominal approach is the standard surgical technique. Intraoperative tumour spillage should be carefully avoided. Even after R0 resection, recurrence of the disease is frequent and regular follow-up for a minimum of 5 years is required. In advanced ACC, the treatment of choice is mitotane with or without cytotoxic chemotherapy 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 The use of plasma-derived C1 inhibitor in the treatment of hereditary angioedema (Expert Opin Pharmacother. 2007 Dec;8(18):3173-81). Authors are Cicardi M Zingale LC Zanichelli A et al., from the University of Milan, Department of Internal Medicine, Ospedale L Sacco, Milano, Italy. C1-inhibitor (C1-INH) deficiency is the genetic defect underlying hereditary angioedema (HAE). Subjects with HAE suffer from recurrent angioedema that may result in death when it affects the larynx, severe abdominal pain when it affects the gastrointestinal mucosa and disfiguration when it affects the skin. The use of plasma-derived C1-INH concentrates to revert angioedema in HAE patients started in the 1970s. Since that time, three different preparations arrived onto the market, two of them are still present.Controlled studies and a large clinical experience indicate that C1-INH concentrate should be considered the treatment of choice for disabling angioedema attacks at any site 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 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.
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 women’s 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
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.
Project Duration – 01.04.2008 –
01.04.2011 (36 months)
10 Partners
Istituto Superiore di Sanità (ISS). National Centre for Rare Diseases (CNMR)
The Netherlands Organisation for Health Research and Development (ZonMw)
Instituto de Salud Carlos III (ISCIII)
Karolinska Institute (KI)
London strategic health authority
University of Tartu (UT)
European Organisation for Rare Diseases (EURORDIS)
Bulgarian Association for Promotion of Education and Science (BAPES)
Fundacion Canaria de Investigacion y Salud (FUNCIS)
Mario Negri Institute for Pharmacological Research (IRFMN)
39 Collaborating Partners from EU, USA, Canada, Turkey and Croatia
Total Budget: 1 090 883 euros
EAHC Co-Funding: 642 150 euros
Project Coordinator: Prof. Domenica Taruscio, Istituto Superiore di Sanità, Italy
Official Website – www.europlanproject.eu
Project Objectives:
– Develop Recommendations
The EUROPLAN recommendations are a tool to guide step by step efforts to elaborate national plans or strategies for rare diseases and include priority areas and actions of intervention. The aim is to make such initiatives consistent with a common strategy at European level, facilitate the coherence of national initiatives with best practices identified and stimulate the exploitation of possible synergies.
– Collect and Disseminate Best Practices
Best practices are collected and disseminated in order to contribute to share experience, data and effective strategies.
– Select Indicators
Indicators are selected to monitor the implementation of national plans and strategies and to evaluate their impact. A common set of indicators will also contribute to ensure the comparability of data among Member States and the implementation status of the Council Recommendation on Rare Diseases in the EU countries.
– Support the National Conferences
The National Conferences are events held in 2010 in 16 Member States, organized by national rare diseases alliances, where national stakeholders discuss the European strategy, EUROPLAN recommendations and their applicability in their own country. The National Conferences are coordinated by EURORDIS and organized in conjunction with national authorities.
– Ultimately, EUROPLAN aims to assist EU Member States in developing national health policies to improve equal access and availability of prevention, diagnosis and treatment for people with rare diseases.
Background
“The Council Recommendation on European Action in the field of Rare Diseases”, adopted by the EU Council in June 2009, recommends Member States to adopt national plans or strategies for rare diseases before the end of 2013.
EUROPLAN recommendations will provide tools to Member States for developing a plan or strategy, linking with a common framework at the European level.
This “double-level” approach is respectful of national decisions but is expected to ensure a coherent and consistent progress in EU rare diseases care.
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.