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  Болест на Ниман-Пик, ти...  
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Списанието Molecular Genetics and Metabolism е публикувало статия относно болестта на Ниман-Пик, тип C. Болестта на Ниман-Пик, тип C е генетична липидно натрупваща болест характеризираща се с прогресивна невроваскуларна симптоматика. Типично, развитието на болестта е по-ясно изразено при пациенти с ранно начало на неврологичните симптоми.
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The journal Molecular Genetics and Metabolism has published an article about Niemann-Pick disease Type C. Niemann-Pick disease Type C (NP-C) is a genetic lipid storage disorder characterised by progressive neurovisceral symptomatology. Typically, disease progression is more pronounced in patients with early onset of neurological symptoms. Heterogeneous clinical presentation may hinder disease recognition and lead to delays in diagnosis. The full-text article you can find here.
  Шествие „За равен шанс ...  
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По повод шествието „За равен шанс на нашите деца“ пациентските организации от Националния алианс на хора с редки болести изпратиха писмо до премиера Бойко Борисов. Пациентите поискаха среща с него, за да му обяснят как заради законови пречки до тях не достигат медикаменти за лечението им. „Наясно сме, че в условията на криза е време за икономии и съкращения в бюджета, но животът е еднакво мил и скъп за всеки. Разбирате какво се случва с болен човек, когато не приема лекарства. Той умира. Това е причината повечето от пациентите с редки болести у нас да са деца”, пишат хората с редки болести до премиера Борисов.
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On the occasion of the March “For a fair chance to our children”, patient organizations from the National alliance of people with rare diseases have sent a letter to the Bulgarian Prime Minister – Mr. Boyko Borisov. Patients have requested a meeting with him in order to present the problems of people with rare diseases and their families and to look together for ways to solve them. “We are aware that the economic crisis requires saving and budget cuts, but life is equally dear and valuable to anyone” write people with rare diseases to Mr. Borisov. The full text of the letter in Bulgarian can be found here.
  Mastocytosis - Институт...  
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Мастоцитозата е заболяване, което се характеризира с пролиферация и натрупване на специфичен вид клетки – мастоцити, в различни тъкани и органи, най-често в кожата. Не е ясно дали мастоцитозата е хиперпластична реакция към неизвестен стимул или е неопластично състояние.
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A new disease profile is added to our database – Mastocytosis. Mastocytosis is a disorder characterized by mass cell proliferation and accumulation within various organs, most commonly the skin. Whether mastocytosis is a hyperplastic reaction to an unknown stimulus or whether it is a neoplastic condition is unknown. The disease can be manifested by cutaneous and systemic symptoms, acute and/or chronic clinical course. Most of the patients report itching cutaneous lesions. Mastocytosis affects males and females equally (no known sex predilection). 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 dermatology – Dr. Ivelina Yordanova, MD, PhD
  Публикации Archives - С...  
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Въпреки, че хипертиреоидизмът може да доведе до имунен дисбаланс и автоимунно заболяване, не е ясно как той е повлиял развитието на ТТП и дали излекуването на хипертиреоидизма ще доведе до излекуване и на двете състояния.
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, from the Department of Internal Medicine, Saint Louis University School of Medicine, Saint Louis, Missouri 63110, USA. Patients with an autoimmune disease have a propensity for development of a second autoimmune disease. We report the first instance of a patient with both idiopathic thrombotic thrombocytopenic purpura (TTP) and Graves disease. The TTP remitted with a combination of plasmapheresis and prednisone. Methimazole led to sustained remission of the hyperthyroid state within 6 weeks. Although hyperthyroidism may induce immune imbalance causing autoimmunity, it is unclear if this influenced the development of TTP in our patient and if treatment of hyperthyroidism alone could have resulted in the cure of both diseases. To access the full abstract of the article, click here.
  Тенденции в разработван...  
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След анализ става ясно, че повечето заболявания са били изследвани само в ограничен брой проучвания; 70% от заболяванията са били изследвани в по-малко от 10 проучвания, а 28% са били изследвани само в едно.
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Drug development for rare diseases is challenging because very few patients suffer from such diseases, and thus it is difficult to obtain relevant data. An international survey done with the EU Clinical Trials Register (EUCTR) and the Japanese Registry Network (JPRN) provided information on rare diseases and medicines. A total of 1,535 rare diseases and 1,539 drugs were studied in the total of 28,526 clinical trials examined. After analysis, it is clear that most diseases were only investigated in a limited number of studies; 70% of the diseases were studied in less than 10 studies, and 28% were tested in only one. It has also been established that most studies are about rare diseases associated with cancer. More research results can be found here.
  Публикации Archives - С...  
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Билиарният кистаденом е много рядко срещан кистозен тумор на черния дроб. Неговата клинична картина, диагностициране, патологични характеристики и оптимален хирургичен мениджмънт не са определени ясно.
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, from the Department of General Surgery, First Affiliated Hospital, China Medical University Shenyang, China. Biliary cystadenoma is a very rare cystic neoplasm of the liver. Its clinical features, diagnosis, pathologic characteristics, and optimal surgical management have not been defined clearly. In this article the describe the details of this rare disease. A 40-year-old woman with a mass of the liver was verified by ultrasonography and LT. The patient received successfully a left hepatectomy. After the left hepatectomy, the patient was fully recovered. Her biliary cystadenoma was characterized by specific histological findings. Ultrasonography and CT are the major methods for the diagnosis of mucinous biliary cystadenoma liver. Operation is the best way of treatment. To access the full abstract of the article, click here.
  Предложения за нови рег...  
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Сред основните елементи на предложенията се включват по-стриктен надзор на независимите органи за оценяване; по-ясно разписани права и задължения на производителите, вносителите и дистрибуторите, като това включва също диагностичните услуги и интернет продажбите; по-стриктни изисквания към клиничните доказателства с оглед на безопасността на пациентите и потребителите.
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The European Commission today proposed two Regulations, which are going to ensure better quality and safety of the medical devices and in vitro diagnostic medical devices, as well as adaptation to the scientific and technological progress in this field. The medical device sector is highly innovative, particularly in Europe and has an estimated market value of around €95bn. Main elements of the proposals include: stronger supervision of independent assessment bodies by national authorities; clearer rights and responsibilities for manufacturers, importers and distributors, applying also to diagnostic services and internet sales; stricter requirements for clinical evidence, to ensure patient and consumer safety. The proposed regulations will replace the existing Directive 90/385/EEC regarding active implantable medical devices, Directive 93/42/EEC regarding medical devices and Directive 98/79/EC regarding in vitro diagnostic medical devices. For more information, please visit the Commission’s website.
  Публикации Archives - С...  
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Автор е Simonds AK от Royal Brompton Hospital, Sydney Street, London, UK. Значението на поддържащите техники за вентилация върху развитието на невромускулна болест (neuromuscular disease, NMD) стана по-ясно откакто техниките се прилагат широко през последните 20 години.
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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Recent advances in respiratory care for neuromuscular disease.” (Chest. 2006 Dec;130(6):1879-86). Author is Simonds AK, from the Royal Brompton Hospital, Sydney Street, London, UK. The impact of ventilatory support on the natural history of neuromuscular disease (NMD) has become clearer over the last 2 decades as techniques have been more widely applied. Noninvasive ventilation (NIV) allows some patients with nonprogressive pathology to live to nearly normal life expectancy, extends survival by many years in patients with other conditions (eg. DMD), and in those patients with rapidly deteriorating disease (eg. ALS). A growing number of children with NMD are surviving to adulthood with the aid of ventilatory support. In patients with many different neuromuscular conditions the most effective time to introduce NIV is when symptomatic sleep-disordered breathing develops. To access the full abstract of the article, click here.
  Riluzole за лечение на ...  
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Медикаментът е противопоказан в случай, че пациентът е имал високи нива на трансаминазите преди започване на лечението. В много редки случай riluzole може да причини неутропения и лекарите трябва да са наясно с този риск.
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PubMed, the internet portal of biomedical and life sciences literature, indexed a review on “The tolerability of riluzole in the treatment of patients with amyotrophic lateral sclerosis“ (Expert Opin Drug Saf. 2004 Nov;3(6):525-34). Authors are Bensimon G and Doble A from Hopital de la Pitie-Salpetriere, Department of Clinical Pharmacology, Assistance Publique Hopitaux de Paris et Universite, Paris, France. Riluzole is the only disease-modifying drug approved for the treatment of amyotrophic lateral sclerosis (ALS). The overall tolerability of riluzole is good and the drug can be used in all patients with ALS except those with elevated transaminase levels or active liver disease. The most frequently encountered adverse events that appear to be attributed to riluzole are asthenia and nausea. The most important potential safety issue with riluzole is hepatic impact with elevations of transaminases. Strict monitoring of liver enzymes is recommended in patients with ALS taking riluzole, and treatment is contraindicated in subjects with elevated transaminases before the start of treatment. There is a suspicion that riluzole may, in rare cases, cause neutropenia, and physicians should be vigilant towards this risk. To access the full abstract of the review, click here.
  Публикации Archives - С...  
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МГ: Проведената на 14-15 септември 2012 г. в Пловдив Национална конференция беше важно събитие, което като трета поредна конференция ясно показа, че темата за редките болести и лекарства сираци трайно е заела мястото си в календара не само на медицинските специалисти, но концентрира около себе си важни съпътстващи семинари на организациите на пациенти с редки заболявания, предоставя най-естествената среда за полезни срещи и контакти  между специалисти, представители на официалните здравни институции, неправителствени организации, медии, дава възможност на студенти и млади колеги да се докоснат и приобщят към проблема.
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EE: I first heard the term “rare disease” 5 years ago when my youngest son was born. Diagnosis was set on the second day after birth, really fast. The senior dermatologist, who consulted us, said that she has never personally seen a person with this disease. She could not offer us concrete ways to treat or at least take care of our son. With the help of friends and search on the Internet, we got in contact with a disease specialist – Dr. Yordanova from Pleven University Hospital, and later on with doctors of epidermolysis bullosa centres in London and Salzburg. Thanks to their extensive experience with such patients and work in an interdisciplinary team, they were able to meet more comprehensively the diverse issues of this disorder and helped me a lot for my son’s care. Epidermolysis bullosa patients have a very fragile skin and mucous membranes. It is important that healthcare professionals who treat such persons, to be specially trained. Otherwise, they could cause serious harms. In 2009 we visited the specialised centre in Salzburg and there we were convinced that patients with this rare illness need care from a team of specialists in a separate unit.