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This unique three-year programme has now concluded. It has been the most comprehensive clinical and policy autism research ever done in Europe.
The programme’s most important legacy will be its contribution to the development of future autism research, policy and practice. Through discussions with member states, we are using the ASDEU findings to work towards the inclusion of autism on the agenda of the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases. As well as its legacy in terms of policy and practice frameworks, the programme’s website will remain online until the end of 2019 as a vital source of information for autistic individuals and their families, as well as for the groups and professionals who provide support. The website includes the executive summary and summaries of all the work programme findings.
Contacts
Contact person:
Dr. Petia Stratieva
Address:
str. San Stefano 17, 6th floor
1504 Sofia
Governing body:
Dr. Petia Stratieva – president
Tsvetana Dvorskа – member
Maria Konstantinova – member
E-mail:
Petia.stratieva@retina-international.org
Activities:
• organisation of patients and family members living with degenerative retinal diseases
• research
• advocacy
• patients empowerement
• information
Purposes:
• access to diagnosis
• treatment (including access to clinical researches)
• clinical researches
• new therapies
Pregnancy is usually contraindicated in patients with pulmonary hypertension (PH). Risk factors associated with the outcome of this rare disease have not been specifically explored before.Medical records were retrospectively reviewed to identify patients with coexisting PH and pregnancy or delivery at Peking Union Medical College Hospital between January 2009 and June 2018. Thirty-six pregnant women with PH were identified, including 30 cases in WHO group 1, 5 cases of group 2 and 1 case of group 4. Median pregnancy duration was 24 weeks. The overall maternal mortality rate was 8.3% (3/36), and the late fetal mortality was 31.6% (6/19). The full article you can find here.
Angioedema due to acquired deficiency of C1-inhibitor (C1-INH-AAE) is a rare disease sharing some clinical and laboratory similarities with hereditary angioedema, but with late onset and no positive family history.
It is reported a case of rare angioedema due to acquired deficiency of C1-inhibitor, which has no clear cause after long follow-up, but good response to attenuated androgen which is found to a 75 year old woman suffering from recurrent episodes of angioedema since the age of 66. First she was on a daily prophylactic treatment with tranexamic acid, with no amelioration after 3 months. Then the treatment was switched to attenuated androgen danazol. She completed 3 years of continuous treatment with low daily maintenance dose of danazol (ongoing), with no angioedema attack.
It is concluded that the awareness of angioedema due to C1-INH deficiency should be increased within medical community and therapeutic options should be more clearly indicated and available for all diagnosed cases. More information regarding this rare case you can find here.
Reimbursement of innovative anti-cancer medicines is of
particular interest for health policy makers and for the public in
general. On the one hand, this is due to the high unmet health needs
and inequalities. On the other, this is because of the considerable
costs and financial burden for patients, hospitals and payers. This
complex problem is addressed in a number of ways in different
countries. Special attention should be paid to the UK. One of the
main mechanisms for access to innovative anti-cancer medicines is
the Cancer Drugs Fund. The critical analysis of this experience could
be useful in improving and optimising assessment and appraisal of
innovative health technologies in Bulgaria.
The whole article you can read on the latest issue of our journal “Rare diseases and orphan drugs” here.
The aim of the study is to analyze data on oral health-related quality of life (OHRQoL) in people with Marfan syndrome and to obtain information on the diagnosis period, orthodontic treatment, and oral symptoms.
A questionnaire is developed consisting of open questions and the standardized German version of the OHIP-14 (Oral Health Impact Profile) questionnaire for the evaluation of OHRQoL. A total of 51 questionnaires are evaluated, which includes 34 female and 17 male participants.
The conclusion from the study is that people with Marfan syndrome have a worse OHRQoL than do the general population.
More information about the study you can find here.
Addresss: residence quarter Krasno selo, bl. 198, 6th floor, ap. 23, Sofia 1618
Phone: 0886 390 679
E-mail: info@huntington.bg
Facebook: https://www.facebook.com/huntington.bg/
Parents of children with rare diseases face pervasive challenges in meeting medical and social care needs. Existing research on the parents’ experience of caring for a child with a rare disease is limited. Fifteen parents of children with rare diseases participated in semi structured interviews. Interpretive thematic analysis reveales that due to the rarity of the disease and an overall lack of knowledge of the disease, there is an increase in the burden on the family. To read further more about the study and the results of it check here.
Recombinant von Willebrand factor (rVWF) demonstrates efficacy for on-demand treatment of bleeding in severe von Willebrand disease (VWD). The study evaluates the hemostatic efficacy/safety profile of rVWF, with/without recombinant factor VIII (rFVIII), in patients with severe VWD undergoing surgery. The collected data supports the efficacy and safety profile of rVWF in patients with severe VWD undergoing elective surgery. To read further more about the study and the results of it check here.
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