We present a rare case of a 13-year-old male patient from Eastern European population with complaints of pain, discomfort, swelling, and bruising in the left shoulder. After low-dose computed tomography angiography, a giant, segmental, arteriovenous hemangioma was detected. Several hypotheses have been proposed for the pathogenesis of pediatric hemangiomas, but the exact etiology of these lesions remains unclear. It is widely believed that females in the Caucasian population are most affected. Hemangiomas are more likely to be associated with developmental abnormalities and have typical behavior over time with devolution stage. Although benign, hemangiomas can cause serious and permanent damage, especially those located in depth, near bones, joint spaces, or parenchymal organs. The challenge for clinicians is to identify which hemangiomas need vigilant monitoring and / or surgery. Read the whole article here.
The European Commission is carrying out an evaluation of the Directive on patients’ rights in cross-border healthcare, ten years after the adoption of this law. Have your say!
The evaluation will assess the effectiveness of the Directive’s goal: to facilitate EU citizens’ access to safe and high quality cross-border healthcare in another EU country. It will also assess to what extent the Directive has promoted patients’ rights and cross-border cooperation between Member States for the benefit of EU citizens, in particular for patients with rare and complex diseases. The evaluation will also determine how effective are the approaches carried out by the different EU countries ; what barriers patients are still facing when seeking planned healthcare across borders and the benefits provided by the European Reference Networks for the treatment and diagnosis of rare and complex diseases.
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The new issue of our scientific journal Rare Diseases and Orphan Drugs is now online. The issue contains 7 publications on various topics. The editorial is “Rare diseases in 2020 – what did we learn?”.
2020 is over, but its consequences and effects will certainly continue for a long time. The COVID-19 pandemic is an unprecedented challenge for all societies and health systems. On the other hand, every crisis brings opportunities for rethinking, change and progress. Rare diseases and people affected in some way or working in this field are an excellent example of a society that has managed to come together and work together to overcome a particular problem. A direct comparison between COVID-19 and rare diseases is, of course, inapplicable and inappropriate. But in the end, the principles and values of universality, access to quality healthcare, justice and solidarity are generally valid and retain their fundamental function and paramount importance in every public health issue.
One of possibly the most important lessons of 2020 is the perceived role of communication and the sharing of knowledge and expertise in a virtual environment. This is not a new topic at all. Everyone so far has been actively communicating on the Internet, taking online training courses and attending virtual events. But the mass use and lack of an alternative other than online communication in 2020 is undoubtedly something new. Virtual communication cannot replace or fill the presonal one, but it definitely has its advantages and strengths. The Eleventh National Conference for Rare Diseases and Orphan Drugs clearly demonstrates some of them. Read the whole article here.
We would like to wish our friends and partners Merry Christmas and Happy New Year! Thank you for your cooperation in 2020! We hope all of us will have a safe and relaxing festive holiday. We look forward to seeing you in 2021!
On 11 December, 2020 at 2 pm in hall Stara Zagora of the Virtual Congress Venue, Dr. Zlatin Ivanov will present a lecture about “Nutrition and performance test or how to show the best of yourself.” During the webinar we will learn what represent Nutrition and Performance tests and how they are conducted. Dr. Ivanov will discuss basic concepts in nutrition and physical activity, as well as what direction the results of these tests give. The lecture is intended for medical professionals, academia representatives, all interested of healthy lifestyle, athletes and anyone who wants to improve their performance.
At this link you can register for the event for free.
Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as “West syndrome”, new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances. For more information click here. For more information click here.
For the 11th consecutive year, the Institute for Rare Diseases organized and held National Conference for Rare Diseases and Orphan Drugs. Participants in a poster session presented their researches on various topics related to rare diseases. This book presents the proceedings of posters and it is published as a supplement on the website of the scientific journal “Rare Diseases and Orphan Drugs”. The e-book can be downloaded or viewed online at the following link.
On 21 November, 2020 at 1 pm in hall Maritsa, psychologist Milena Velinova will present a lecture about ” Links for the development of the mental in the child”. The webinar is intended for parents and all interested medical professionals, representatives of the academy, health authorities, patient organizations. The main topic of the lecture is the process of mental development from early childhood to school age.
At this link you can register for the event for free.
On 28 November, 2020 at 11 am in hall Burgas of the Virtual Congress Venue, Dr. Kostadin Kostadinov will present a lecture about ” Acquired thrombotic thrombocytopenic purpura – on the path of challenges”. The webinar aims to analyze epidemiological data for acquired thrombocytopenic purpura. As well to present an assessment for the prevalence of this disease in Bulgaria. The lecture is intended for all interested medical professionals, academia representatives, health authorities and patient organizations.
At this link you can register for the event for free.
On 25 November, 2020 at 17:30 in hall Dunav of the Virtual Congress Venue, in a specialized webinar, Prof. Ivaylo Tarnev, Prof. Violeta Yotova and Mr. Vladimir Tomov will present a lecture about “Patients with rare diseases in Bulgaria during the COVID-19 pandemic”. The webinar is intended for medical professionals and aims to provide information on how to ensure and optimize therapy and access to it during a COVID-19 pandemic. What is the viewpoint of patients and their new challenges during the COVID-19 pandemic. How we could improve the process of diagnosing, monitoring and treating patients with rare diseases in Bulgaria during the COVID-19 pandemic will be also discussed.
At this link you can register for the event for free.
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