широк – Übersetzung – Keybot-Wörterbuch

  Оценяване на качеството...  

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Хемофилията е рядко заболяване, чието качество на лечение варира по цял свят. Водещите критерии за селекция на възможните индикатори бяха лекота при изчисляване и директно приложение при широк кръг от държави, които събират базови данни.

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The journal Hemophilia: The Official Journal of the World Federation of Hemophilia has published an article about measuring the quality of haemophilia care across different settings. Haemophilia is a rare disease for which quality of care varies around the world. The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. The full-text article you can find here.

  Редките болести във фок...  

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Важно е да се работи за информираността сред политиците и широката общественост чрез застъпничество от името на пациентите в парламента и в политическите форуми, където се подготвят и приемат законите, така че да се отразят инициативите на ЕС в националното законодателство.

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AK: In my experience a twin track approach is often the best way forward, and an early start helps to prepare the ground. When EU approaches are under development those who will be responsible for implementing them at national level need to be engaged with at as early a stage in the process to discuss what the implications might be and how the benefits might be realized. Practical and realistic options based on the opportunities on the ground in the Member State need to be worked out, remembering that what works in one country may not in another. Enlist the support of key allies – clinicians and others will want to take advantage of opportunities to help their patients, but they can only do this if they know about them, and try and secure a seat at the tables where decisions are being made. At the same time, it is important to work on awareness amongst politicians and the wider community by advocacy on behalf of patients in Parliament and in the policy forums where legislation is laid down that will transpose EU initiatives into national law, and through intelligent use of the media to generate public support that can be translated into political pressure thereby making a positive outcome more likely.

  Дистална дупликация на ...  

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Клиничната картина включва широк спектър от прояви – от асимптомни случаи до различни комбинации от костни, скелетни, гастроинтестинални, психологични и други аномалии в съчетание със забавено развитие.

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A new disease profile is added to our database – Distal Duplication 15q syndrome. Chromosome 15q trisomy is an extremely rare genetic disorder, caused by a chromosomal aberration in which there is an excess copy of the long (“q”) arm of human chromosome 15. The disorder is also known as Distal Duplication 15q and Partial Duplication 15q Syndrome. Patients exhibit a wide spectrum of manifestations which range from asymptomatic cases to variable combinations of skeletal, neurological, gastrointestinal, psychological, and other abnormalities in association with developmental delay. Interstitial duplications of chromosome 15 are clearly identifiable using a 15q FISH test. 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 genetics – Dr. Dimitrina Konstantinova, PhD.

  Грантове за проекти за ...  

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Избраните проекти обхващат широк спектър от редки хематологични, метаболитни, неврологични и кожни заболявания, вродени малформации, изследвайки потенциалното терапевтично приложение на най-съвременните технологии и концепции като плурипотентни стволови клетки и генна терапия.

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After a competitive scientific evaluation by peers, the E-Rare funding bodies have announced this year’s rare diseases research projects, which are going to be funded. In December 2010 E-Rare launched its third Joint Transnational Call for research proposals on rare diseases. Following two rounds of evaluation, 13 consortia with a foreseen budget of about 9 million euro were selected for funding. The projects cover a wide range of rare diseases including hematologic, metabolic, neurologic and dermatologic diseases as well as congenital malformations while adressing potential therapeutic options using state-of-the-art techniques like pluripotent stem cells, gene therapy vectors and customized animal models. Visit the new E-Rare website to find out more on rare disease research funding and collaboration opportunities.

  Синдром остеопороза-псе...  

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Списанието Ophthalmic Genetics публикува обзор относно Синдрома остеопороза-псевдоглиома. Синдромът остеопороза-псевдоглиома е много рядка болест, която се характеризира с тежки аномалии на очите и остеопороза, но също причинява по-широк спектър от клинични прояви.

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The journal Ophthalmic Genetics has published a report about osteoporosis-pseudoglioma syndrome. Osteoporosis-pseudoglioma syndrome is a very rare disease mainly characterized by severe eye abnormalities and osteoporosis but also causing a broader range of clinical features. Two probands (4 and 7 years of age respectively) and their parents were assessed by genetic analysis and comprehensive ophthalmic examination. In both probands, the diagnosis of osteoporosis-pseudoglioma syndrome was confirmed by detection of three new pathogenic LRP5 variants: p.(Asp379Asn), found in the homozygous state in one proband, and p.(Asp203Ala) in the compound heterozygous state with p.(Cys612Valfs*25) in the other. To our knowledge, these are the first two cases of the syndrome described in Italy. The full-text report you can find here.

  За нас - Институт по ре...  

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БАПОН е неправителствена организация с нестопанска цел, регистрирана съгласно разпоредбите на ЗЮЛНЦ през 2003 г. От създаването БАПОН работи за подобряване на осведомеността за редките бoлести сред широката общественост, както и сред медицинската общност у нас.

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Institute for rare diseases (IRD) is a project of the Bulgarian Association for Promotion of Education and Science (BAPES). Since its establishment in 2003, BAPES (a non-government non-profit organisation) has been working to raise the awareness of rare diseases among the medical community and the society as whole in Bulgaria. By participating in a number of major EU-funded projects, implementing a series of epidemiological registries and organising rare disease-orientated public and scientific events, BAPES helps to stimulate fundamental, clinical and public health research on rare diseases in Bulgaria, as well as the development and provision of care and services for people with rare diseases and their families.

  Европейски студентски м...  

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Сред дискутираните теми ще бъдат профилактиката, диагностиката, лечението и мониторинга на редките болести, които са предизвикателство за лекарската практика и здравната система. С помощта на специалисти в областта студентите ще получат по-широк и цялостен медицински поглед върху проблема.

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This fall the First European medical students’ congress (EMScon) for Rare Diseases and Orphan Drugs will be held  from 6th to 8th of September in Plovdiv. This event aims to enrich the knowledge of the future medical professional and to help them gain experience in the field of rare diseases. Among the topics which will be discussed are advanced methods for prevention, diagnosis, treatment, follow-up and rehabilitation on rare diseases and orphan drugs. For more information, please visit the official website of the event.

  Мерки за прозрачност пр...  

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Допитването ще помогне на Комисията да определи как най-добре да актуализира действащите правила, за да се намалят цените на лекарствата, да се гарантират прозрачни национални процедури и да се осигури по-широк и навременен достъп до медикаменти.

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The European Commission has launched a public consultation in view of modernising rules on the transparency of Member States’ decisions regarding the pricing and reimbursement of medicines. The consultation invites all interested parties to share their views on the review of Council Directive 89/105/EEC, often referred to as the ‘transparency directive’. Although the prices of medicines and reimbursement are decided at national level, the Transparency Directive is aimed at facilitating the free movement of medicines in the EU. The consultation will help the Commission determine how to best update the existing rules to reduce pharmaceutical prices, guarantee transparent national procedures and facilitate a broader and timely access to medicines. The consultation can be found here.

  Редките болести във фок...  

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Докато една широка популационна база е особено необходима за епидемиологичните и клинични изследвания за редки заболявания, Регламентът за защита на личните данни създава определени предизвикателства пред събирането на такива данни и обмена им в ЕС.

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EPIRARE is a project, motivated by the increasing interest of researchers in the establishment of disease registries. The need for shared quality data collections for different health and healthcare purposes and the awareness of difficulties posed by their maintenance is witnessed by a number of recent documents. The recent adoption of the Council Recommendation on RDs, which recommends the development of registers and databases for epidemiological purposes, is expected to result in a burst of initiatives for RD registration. While a wide population base is especially needed for epidemiological and clinical research in RDs, the Regulation on personal data protection creates important challenges to EU data collection and exchange, requiring a legitimate purpose for health data collection. It is therefore urgent to set up a common regulatory, ethical and technical framework to avoid that spontaneous initiatives in EU Countries find sound but autonomous solutions and legal bases, resulting in a waste of time, resources and health. EPIRARE aims to carry out a feasibility study addressing regulatory, ethical and technical issues associated with the registration of RD patients and with the creation of a EU platform for the collection of data on RD patients and their communication among qualified users. Possibilities for long-term sustainability of registration in the platform will also be studied by seeking synergies among different interests like research, health technology assessment, management of healthcare and policy purposes. To this aim, the project will define options for the preparation of a legal basis, fields in which effective synergies can be achieved, governance framework and possible options to support the platform.

  Обучение по детска ревм...  

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От 18 до 22 септември 2006 г. в Генoва (Италия) ще се проведе обучителен курс на тема „Детска ревматология“. По време на този едноседмичен курс ще се обсъждат широк кръг въпроси, свързани с основните и клинични аспекти на темата.

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A training course entitled “Pediatric Rheumatology” will be hold on 18 – 22 September, 2006 in Genova, Italy. This week-long course will range from basic to clinical issues pertinent to the field. The course is addressed primarily to post-doctoral researchers and clinicians working in the field. In addition to lectures, ample time will be devoted to the presentation and discussion of clinical cases, proposed both by faculty and by course participants. The training course is organized by Gaslini International and supported by the Giannina Gaslini Children’s Research Hospital of Genova. Participants from developing countries are eligible to apply for a grant. For more details, please click here.

  Лизозомни заболявания -...  

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Тези заболявания изграждат група от приблизително 60 наследствени състояние причинени от прогресивно натрупване на метаболити поради дефект в лизозомните ензими и пътищата за разгражане, което довежда до широк спектър от клинични прояви.

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The journal Molecular Genetics and Metabolism Reports has published an article about lysosomal diseases (LD) LD comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in lysosomal enzymes and degradation pathways, which lead to a wide range of clinical manifestations. The estimated combined incidence of LD is between 1 in 4000 to 1 in 13,000 live births, with recent data from pilot newborn screening studies showing even higher incidence. The full-text article you can read here.

  admin, Author at Инстит...  

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Европейската Комисия стартира платформата Хайди (Heidi, Health in Europe: Information and Data Interface), интернет базиран инструмент за здравна информация и данни в Европа. Платформата предлага широк спектър от здравни статии и данни, например за здравен статус, заболявания, детерминанти, здравни системи и политики.

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The European Commission has launched the Heidi (Health in Europe: Information and Data Interface) Health Wiki, an internet based wiki tool for European health information and data. It aims to offer a broad spectrum of articles and data, relating e.g. to health status, diseases, determinants, health systems and policies. Information in Heidi is presented as text, tables, graphs, charts and maps, which users can view and download. For further information, please explore Heidi website.

  9-та международна конфе...  

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На 9 октомври програмата е посветена само на конференцията за редки болести, в рамките на която ще бъдат представени широк спектър от теми, касаещи медицински, научни, политически, социални, промишлени и икономически аспекти.

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The 9th ICORD conference “Societal value of Prevention, Diagnosis and Treatments of Rare Diseases” will be held on 7-8 October 2014 in Ede, The Netherlands. The event will be organized in parallel to the Dutch Medicine Days, with both joint sessions and separate ICORD sessions and open workgroup meetings. The 9th of October the programme is dedicated to ICORD only, where a wide range of topics concerning medical, research, political, social, industrial, and economical aspects will be presented. For more information, visit the official website of ICORD, please.

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LSDs представляват широк клас от моногенни заболявания с обща заболеваемост от 1:7000 новородени, поради нарушена активност на един или повече лизозмни хидролази или подобни протеини довеждащи до натрупване на неразградими субстрати в лизозомите.

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The journal Molecular Therapy has published an article about lysosomal storage disorders. Lysosomal storage disorders (LSDs) are a broad class of monogenic diseases with an overall incidence of 1:7,000 newborns, due to the defective activity of one or more lysosomal hydrolases or related proteins resulting in storage of un-degraded substrates in the lysosomes. The full-text article you can read here.

  Муковисцидоза – да доба...  

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Трайното решаване на проблема с достъпа до качествено наблюдение и терапия на хората, страдащи от муковисцидоза, обаче, може да се случи само с волята на политиците. Ето защо инициативите на „Муковисцидоза – да добавим живот” продължават на още по-широк фронт.

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Sustainable solution of the problem of access to quality treatment follow-up of people suffering from cystic fibrosis, however, can only happen with the support of politicians. Therefore “Cystic Fibrosis – Let’s Add Life” campaign continues to seek wider and wider support. The Ombudsman of Bulgaria Konstantin Penchev has already stood beside the patients with cystic fibrosis and their legitimate quest.

  Оценяване на качеството...  

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Хемофилията е рядко заболяване, чието качество на лечение варира по цял свят. Водещият критерий за селекция на възможните индикатори са били облекчени от изчисленията и прякото приложение в широк кръг от държани с основни възможности за събиране на данни.

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The journal Hemophilia: The Official Journal of the World Federation of Hemophilia has published an article about measuring the quality of haemophilia care across different settings. Haemophilia is a rare disease for which quality of care varies around the world. The guiding criteria for selection of possible indicators were ease of calculation and direct applicability to a wide range of countries with basic data collection capacities. The full-text article you can find here.

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Списанието Molecular Genetics and Metabolism публикува статия относно левкодистрофиите. Те представялват широк клас генетични заболявания, които завършват с увреждане или унищожаване на централната миелинизация.

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The journal Molecular Genetics and Metabolism has published an article about leukodystrophies. Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The full-text article you can find here.

  10 години Ден на редкит...  

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Целта на Деня е да направи широката общественост, заинтeресованите страни и хората, взимащи решенията информирани за тези 6-8000 болести повечето, от които са наследствени, засягащи 6% от популацията и поемащи диспропорционална част от бюджетите за здравеопазване.

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The journal Gene Therapy has published an article about Rare Disease Day. Rare Disease Day is a global awareness day celebrated on the last day of February each year, which in 2017 reaches its 10th edition. The Day aims to make the general public, stakeholders and decision-makers aware of these 6–8000 diseases, which are mostly inherited, affect 6% of the population and consume a disproportionate part of Health budgets. The full-text article you can find here.

  Публикации Archives - С...  

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Формираните към сдружението работни групи за вродени анемии и нарушения в коагулацията, левкемии, лимфоми и миелопролиферативни заболявания са се заели с изключително важната задача да наложат възможно най-добрия съвременен професионален подход – този на интердисциплинарна грижа за пациента, фокусирайки професионализма на широк кръг специалисти, в тясна колаборация с институциите и пациентските организации.

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NT: Contradictory. I met with people who have the desire, ambition and willingness to work to change the system in a positive direction in order to provide treatment and care for patients with rare diseases. Among them – both patients and doctors have enthusiasm and readiness to sacrifice personal time, effort and work to achieve the final result. But I also met people, who, after more than 20 years after the so-called “transition”, are still waiting for the change to start from the top. I heard a call to institutionalise communication between different medical units and many, many complaints about the lack of clinical pathways and adequate funding. I can not deny the defficit of resources and the unenviable position that medical professionals take today. However, it is an indisputable fact that the expert community namely is the one which is expected to give impetus to change. By legislation and by default experts are those who have to write a clinical pathway, to justify it to the appropriate medical society and the Bulgarian Medic Union, which in turn to defend it when negotiating with the National Health Insurance Fund the annual national healthcare framework contract. I can not accept experts with large a huge CV, who admit with no fear that patients are not treated as by standard, because the “State” do not “provide” the necessary conditions. In times like today, passing beneath the leitmotif of the global crisis and increasing healthcare costs, medical professionals should uphold the right to apply their expertise at the highest level. Otherwise, I do not see a point in their acclaimed scientific and professional titles.