съответно – -Translation – Keybot Dictionary

  ЕПИДЕМИОЛОГИЯ НА ХРОНИЧ...  

Show textShow cached sourceOpen source URL	Годишните заболеваемост и болестност са съответно:
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	The annual crude incidence and prevalence are respectively:

  Национален регистър на ...  

Show textShow cached sourceOpen source URL	Годишните заболеваемост и болестност са съответно:
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	The annual crude incidence and prevalence are respectively:

  Нашият генетичен консул...  

Show textShow cached sourceOpen source URL	• Педиатър в Районна болница Карлово и III градска болница Пловдив – съответно от септември 1980 до декември 1983 год. и от януари 1984 до май 1985 год.
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	Title of the project: “Pilot screening for subtelomeric chromosomal aberrations in unknown mental retardation ”, funded by Medical University, Plovdiv, 2001-04.

  Ден на редките болести ...  

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Националният алианс на хората с редки болести и Асоциация „Пулмонална Хипертония България“ организират благотворително поставяне на театралния спектакъл „Предградие” в Пловдив, Плевен, Стара Загора и София, съответно на 12, 18, 25 и 29 февруари 2012 г. В Пловдив спектакълът ще се състои от 14.00 ч. на 12 февруари в залата на ДНА.

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“Rare but strong together” is the offical motto of Rare Disease Day 2012. The Bulgarian National Alliance of People with Rare Diseases and Association Pulmonary Hypertension Bulgaria are organizing a charity performance of the theater play “SubUrbia” in Plovdiv, Pleven, Stara Zagora and Sofia, respectively on 12, 18, 25 and 29 February 2012. The event in Plovdiv is scheduled for 12 February at 14.00 h in the Hall of the National Army.

  Защото всеки в крайна с...  

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Лесно е от гледна точка на статистика – рядка е болест, която засяга не повече от 5 на 10 000 души в Европа. Звучи сухо и успокояващо, защото изглежда като някаква далечна заплаха, която няма как да се случи на нас и съответно спираме да мислим за този проблем.

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Introducing and explaining rare diseases is a simple and complicated taks at the same time. It is easy in terms of statistics – a rare disease affects no more than 5 in 10 000 people in Europe. It sounds emotionless and reassuring because it seems like a distant threat that can not happen and therefore there is no need to think about this problem. Unfortunately, it is how the mass consciousness works.

  Нови предиктори за PAH ...  

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Разгледани са и факторите определящи изхода при лечението на PAH. Прилагането на warfarin се асоциира с намаляване на риска от фатален изход, а хиполабуминемията – съответно с неговото увеличаване. Висок сърдечен индекс и остра вазореактивност са независимо асоциирани с по-надежден изход при лечението на PAH.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “New predictors of idiopathic pulmonary arterial hypertension” (Lik Sprava. 2005 Dec;(8):29-33). Idiopathic pulmonary arterial hypertension (PAH) is a rare disease with poor prognosis. New kind of therapy have improved the outcome of this condition and accordingly the factors that determine the outcome may have been reconsidered. Warfarin use has been associated with a reduced risk of death, hypoalbuminemia – with the increased one. Higher cardiac index and acute vasoreactivity were independently associated with improved survival. These data suggest that the determinants of the outcome have been changed since 1991. To access the full abstract of the article, click here.

  Публикации Archives - С...  

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Авторите описват случаи на 5 пациенти с генитоуринарен лимфом: един случай на първичен тестикуларен лимфом и четирима пациенти с вторични лимфоматозни инфилтрати съответно в бъбреци, пикочен мехур, простата и тестикули.

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, from the Schultz A, Maruschke M, Leithäuser M, Seiter H. Urologische Klinik und Poliklinik. Non-Hodgkin lymphoma (NHL) of the genitourinary system is a very rare disease. Only 1 % of NHL are primary genitourinary lymphomas. Secondary infiltration from disseminated lymphoma can be found in all the genitourinary organs. The authors report on five patients with genitourinary lymphoma: one case of primary testicular lymphoma and four patients with secondary lymphomatous infiltration of kidney, bladder, prostate and testicles, respectively. The clinical courses are described and the current literature is reviewed. The mostly radical procedures are performed for curative purposes after an incorrect diagnosis of a malignant organ cancer without even recognizing or considering NHL in the differential diagnosis. To access the full abstract of the article, click here.

  Прогрес в Източна Европ...  

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Двете инициативи са знакови за Източна Европа и зад този успех стоят години усилия и съвместна работа на Национална асоциация „Генетика” (Русия) и Асоциация „Деца със спинална мускулна атрофия” (Украйна) съответно.

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Two very important rare diseases legislative changes have occurred in Eastern Europe last month. On 26 April 2012 the Russian government adopted a decree establishing a Federal Registry for Rare Diseases, comprising 7 groups of rare disorders and post-transplantation conditions. During the same period, a legislative proposal was submitted for consideration in the Verkhovna Rada (the Parliament) of Ukraine, aiming to ensure access to treatment for patients with rare diseases. Both initiatives are keystones for Eastern Europe and this success is a result of many years of hard work and collaboration of the National Association “Genetics” (Russia) and the Association “Children with spinal muscular dystrophy” (Ukraine) respectively.

  Поплитеални саркоми - И...  

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Чрез ретроспективен анализ на данни от 29 пациенти оперирани последователно в периода от 1989 до 2003 година, авторите установяват начина на начално проявяване, честотата на локално повторно проявление и отдалечени метастаза, както и смъртността и усложненията при процедури за запазване на долни крайници. Шестнадесет, пет и осем пациенти са диагностицирани съответно с тумори от висока-, средна-, и ниска степен.

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, from the Department of Orthopedic Oncology, Washington Cancer Institute, Washington Hospital Center, Washington, DC; The National Unit of Orthopedic Oncology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel; Georgetown University, Washington, DC; and the Pediatric and Surgery Branch, National Cancer Institute, Bethesda, USA. Soft tissue sarcomas of the popliteal fossa are rare diseases. The authors ascertained the mode of initial presentation, the rates of local recurrence and distant metastasis, and the morbidity and complications of limb salvage procedures by retrospective analyze of the data of 29 consecutive patients operated on between 1989 and 2003. Sixteen, five, and eight patients were diagnosed with high-, intermediate-, and low-grade tumors, respectively. Soft tissue sarcomas of the popliteal fossa have an atypical presentation. Limb salvage can be accomplished in most patients with low morbidity and good systemic and local control. To access the full abstract of the article, click here.

  admin, Author at Инстит...  

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Виолета Йотова (ВЙ): Казвам се Виолета Йотова и съм от Варна. Завършила съм медицина с отличие през 1988 г. От 1991 г. работя в УМБАЛ „Света Марина”, съответно в Медицински университет – Варна. Специалист съм по педиатрия и детска ендокринология и болести на обмяната.

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Violeta Yotova (VY): My name is Violeta Yotova and I am fromVarna. I graduated with honors in medicine in 1988 and since 1991 I have been woriking at “St. Marina” University Hospital and the Medical University of Varna. I am a specialist in pediatrics, pediatric endocrinology and metabolic diseases. I have been Associate Professor since 2007. My PhD degree research was focused on postnatal growth and later disease risks in children born small for gestational age. I continue researching in this area today along with my younger associates. I have over 700 citations in foreign literature and I am well known internationally in my professional field. From the very beginning of my career I try to help people with rare diseases – every rare disease patient is a unique universe and is lost if someone does not show special interest in him/her. Recently, there are more and more discussions about the “individualised” or “personalised” medicine. Indeed, there is no more individualised health care than that one provided to people with “unconventional” diagnoses.

  Нови европейски препоръ...  

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Европейският експертен комитет по редки болести (EUCERD) завърши своя тригодишен мандат през юни тази година, приемайки нови два набора от препоръки – съответно по отношение на пациентските регистри и на показателите за оценка на национални планове за редки болести.

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The EU Committee of Experts on Rare Diseases (EUCERD) finished its three-year mandate this June by adopting two sets of recommendations, on patient registration and data collection and indicators for national plans and strategies respectively. The first one gives advice concerning the establishment of registries and collection of data. It calls for the international operability of registries and use of appropriate coding systems to enable the necessary pooling of data for public health and research purposes. The second recommendation provides a list of 21 indicators which are intended to capture relevant data and information on the process of planning and implementing of these plans and strategies. These indicators would provide information notably to the European Commission on the implementation of the Council Recommendation on an Action in the field of Rare Diseases which encourages Member States to establish a national plan or strategy in the field by the end of 2013. These two and all other reports and recommendations elaborated by the EUCERD during the past three years are available on its official website.

  Множествена склероза - ...  

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МС показва географски и расови различия, което предполага генетична предиспозиция, която в комбинация с фактори на средата води до заболяването. Засяга предимно хора на 30-40 годишна възраст, а съотношението жени:мъже е съответно 1.9:1 .

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A new disease profile is added to our database – Multiple sclerosis. Multiple sclerosis (MS) is an immune disorder with suspected genetic predisposition, which in combination with certain environmental factors, leads to an autoimmune reaction, producing inflammatory demyelination in the central nervous system. Thus the conductivity and nerve impulse transmission is impaired which leads to the formation of neurological symptoms. MS has been found to have specifics in its distribution according to the geographic region and race. This supports the theory that genetic and environmental factors alike have primary role in its development. Predominantly young persons– age 30-40. The ratio between women and men is 1.9:1. The type of the disease (progressive, relapsing-remitting), as well as the development (relapse or remission) determine the different type of therapy applied. Stem cells transplants may have a beneficial effect in some forms of MS. 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 neurology – Dr. Pavel Balabanov, MD.

  Aнемия на Diamond-Black...  

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В литературата се срещат 29 случая с връзка между DBA и злокачествени образувания. При два от тях е диагностициран лимфом на Hodgkin, съответно на 15 и 23 годишна възраст. Авторите описват случай на 7 годишно момче с DBA, при което се развива болест на Ходжкин.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Hodgkin Lymphoma in a Child With Diamond-Blackfan Anemia” (J Pediatr Hematol Oncol. 2006 Apr;28(4):234-236). Authors are Yaris N, Erduran E and Cobanoglu U from the Departments of Pediatric Oncology, Pediatric Hematology and Pathology, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey. Diamond-Blackfan anemia (DBA) is a rare disease characterized by aplasia or hypoplasia of erythroid lineage. DBA is associated with an increased risk of malignancy. Most of the reported malignancies are acute myeloid leukemia. Solid tumors including hepatocellular carcinoma and osteosarcoma have also been identified. 29 reported cases with DBA and malignancy can be found. Two of them were diagnosed as Hodgkin lymphoma at 15 and 23 years, respectively. Here the authors report a 7-year-old boy with DBA who developed Hodgkin disease. To access the full abstract of the article, click here.

  Национален регистър на ...  

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Изчислена е нестандартизирана болестност от 3.46 на 100 000 човека. Пациентите се лекуват и проследяват в 8 административни области, като в София и Пловдив се намират съответно три и два хематологични центъра.

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Data for 255 patients with thalassemia major was collected during Phase III of the project. The Organization of Thalassemics in Bulgaria and university hematology clinics have greatly supported and helped the implementation of this phase. 251 patients (98.43%) had consented to be officially registered. Proportion of men (51.16%) is slightly higher. The average age of patients is 21 years, while minimum one is 1.5 years and maximum one is 64 years. Based on the information about birthplace, most patients with thalassemia are born in Sofia, Plovdiv, Stara Zagora, Burgas, Varna, Haskovo, Pleven and Ruse. The calculated non-standardized prevalence is 3.46 per 100 000 people. Patients are treated and followed up in 8 administrative regions in the country, as in Sofia and Plovdiv there are respectively three and two hematology centers.

  Генетика на HUS - Инсти...  

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Направени са генетични анализи на мембранният кофакторен протеин (membrane cofactor protein, MCP), фактор H (CFH) и фактор I (IF) при 156 пациенти с не-Shiga токсин-асоцииран HUS. Открити са съответно четиринадесет, единадесет и пет нови мутации в MCP, CFH и IF.

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, from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Italy. Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy with manifestations of hemolytic anemia, thrombocytopenia and renal impairment. Genetic studies have shown that mutations in complement regulatory proteins predispose to non-Shiga toxin-associated HUS (non-Stx-HUS). Genetic analysis on membrane cofactor protein (MCP), factor H (CFH) and factor I (IF), in 156 patients with non-Stx-HUS was undertaken. Fourteen, eleven and five new mutational events were found in MCP, CFH and IF, respectively. This study documents that the presentation, the response to therapy and the outcome of the disease are influenced by the genotype. Hopefully this will translate into improved management and therapy of patients and will provide the way to design tailored treatments. To access the full abstract of the article, click here.

  Експертните центрове за...  

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Виолета Йотова (ВЙ): Казвам се Виолета Йотова и съм от Варна. Завършила съм медицина с отличие през 1988 г. От 1991 г. работя в УМБАЛ „Света Марина”, съответно в Медицински университет – Варна. Специалист съм по педиатрия и детска ендокринология и болести на обмяната.

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Would you like to introduce yourself to the readers of “Rare Diseases & Orphan Drugs”? Vania Dobreva (VD): I am Vania Dobreva, President of “Pituitary” Association. Violeta Yotova (VY): My name is Violeta Yotova and I am fromVarna. I graduated with honors in medicine in 1988 and since 1991 I have been woriking at “St. Marina” University Hospital and the Medical University of Varna. I am a specialist in pediatrics, pediatric endocrinology and metabolic diseases. I have been Associate Professor since 2007. My PhD degree research was focused on postnatal growth and later disease risks in children born small for gestational age. I continue researching in this area today along with my younger associates. I have over 700 citations in foreign literature and I am well known internationally in my professional field. From the very beginning of my career I try to help people with rare diseases – every rare disease patient is a unique universe and is lost if someone does not show special interest in him/her. Recently, there are more and more discussions about the “individualised” or “personalised” medicine. Indeed, there is no more individualised health care than that one provided to people with “unconventional” diagnoses. Rumen Stefanov (RS): I am Rumen Stefanov, Professor of public health and Dean of the Faculty of Public Health at the Medical University of Plovdiv. Director of the Rare Diseases Centre in Plovdiv.

  Комплементен фактор H п...  

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Нараства броя на доказателствата, че заболяването се асоциира с погрешен контрол на алтернативната пътека на комплемента. Докладвани са генетични аномалии на комплемент регулиращите протеини, вкл. комплементен фактор H (CFH), мембранен факторен протеин и допълнителен фактор I съответно при 30%, 10% и 5% от пациентите.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Complement factor H gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene.” (PLoS Med. 2006 Oct;3(10):e432 ). Authors are Noris M and Remuzzi G, from the Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Dacco, Transplant Research Center, Ranica, Bergamo, Italy. A typical haemolytic uraemic syndrome (HUS) is a rare disease involving haemolytic anaemia, thrombocytopenia, and renal failure. There is growing evidence that the disease is associated with defective control of the alternative pathway of complement. Genetic abnormalities in complement regulatory proteins, including complement factor H (CFH), membrane cofactor protein, and complement factor I, have been reported in 30%, 10%, and 5% of patients with HUS, respectively. CFH is a plasma protein produced by the liver that acts as a central regulator in the alternative pathway of complement activation. The gene encoding CFH is situated, together with genes for five factor H-related proteins (CFHL1–5), within the regulator of complement activation (RCA) gene cluster at chromosome position 1q32. Identification of the specific genetic defect in patients with HUS could enhance diagnostic precision, predict clinical outcomes, and translate into improved management of the disease. To access the full abstract of the article, click here.