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  Министерски съвет прие ...  

Montrer texteMontrer source en cacheMontrer URL avec texte source	3.Подобряване профилактиката и диагностиката на редките болести с генетична определеност чрез въвеждане на нови генетични тестове, децентрализиране на лабораторната дейност и осигуряване на улеснен достъп до медико-генетична консултация.
Comparer pages textesComparer pages HTMMontrer URL avec texte sourceMontrer URL avec langue cibleDéfinir raredis.org comme domaine prioritaire	3. Improvement of the prevention and diagnostics of the genetic rare diseases by introducing new genetic tests, decentralisation of the laboratory activities and easier access to medico-genetic counseling.

  Автоим. тироидна енцефа...  

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При изследване с магнитен резонанс са уловени патологично изменени сигнали и в двете прецентрални части на кортекса. След рентгенологични изследвания на тироидната жлеза и тироидни функционални тестове е поставена диагноза за автоимунен тироидит.

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, from the Department of Neurology, Istanbul University, Istanbul, Turkey. The authors report the first case of an autoimmune thyroid encephalopathy presenting with multifocal motor status epilepticus. A 37-year-old female patient was admitted with multifocal motor seizures intractable to intravenous status epilepticus treatments, asymmetrical quadriparesis, truncal ataxia and continuous semi-rhythmical jerks. Pathological signal alterations were detected in both precentral cortices in MRI examination. Autoimmune thyroiditis was diagnosed after radiological examinations of the thyroid gland and thyroid function tests. Remarkably, autoimmune thyroiditis may present with migrating focal motor status epilepticus. To access the full abstract of the article, click here.

  Нов тест за ADAMTS-13 -...  

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Дефицитът на металпротеаза ADAMTS-13 в плазмата се асоциира с натрупване на микроваскуларни тромби, което е причина за тромботична тромбоцитопенична пурпура (TTP). Настоящите тестове за ADAMTS-13 са технически сложни и отнемащо много време.

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, from the Department of Biochemistry, University of Washington, Seattle, USA. A deficiency in the plasma metalloprotease ADAMTS-13 is associated with deposition of microvascular thrombi that cause thrombotic thrombocytopenic purpura (TTP). Current assays for ADAMTS-13 are technically complex and time-consuming. The objective of this study is to devise a rapid and sensitive assay for ADAMTS-13 activity in plasma and verify the site of cleavage. A new enzyme-linked substrate, which contains a core ADAMTS-13-specific peptide conjugated to horseradish peroxidase (HRP) at the N-terminus, and labeled with biotin at the C-terminus, was constructed. Plasma ADAMTS-13 activity was readily determined in approximately 60 min. To access the full abstract of the article, click here.

  Фациален гранулом - Инс...  

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При дерматологичното изследване се откриват червено-кафяви плочковидни натрупвания с размер 1×5 см около дорзалната носова част с разширяване към лява маларна област. Обичайната хемограма и биохимичните тестове са нормални, антинуклеарни антитела са отрицателни.

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, from the Department of Dermatology, Ege University Medical Faculty, Bornova-Izmir, Turkey. Granuloma faciale is a benign, chronic disease which is characterized by red-brown facial nodules and plaques. This quite rare disease is mostly seen in middle-aged males. The authors present a case of a 41-year-old female patient consulted in their department with a facial lesion of 4 years’ duration. A dermatological examination revealed a pink-brown plaque of 1×5 cm over the nasal dorsum extending to the left malar region. The routine hemogram and biochemical tests were normal, antinuclear antibody was negative. After histopathological examination of the biopsy material which was taken from the lesion the patient was diagnosed with granuloma faciale. To access the full abstract of the article, click here.

  Лечение на костен лимфо...  

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Болката намалява още след първата инфузия. Рентгенологичните тестове, проведени 3 месеца след началото на лечението с rituximab показват забележително подобрение в хода на болестта. 24 месеца след терапията при пациента няма доказателства за рекурентен лимфом.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Dramatical improvement of chemoresistant bone lymphoma with rituximab” (Clin Rheumatol. 2005 Oct 25;:1-2). Authors are Achemlal L, Mikdame M, Nouijai A at al., from Rheumatology and Physical Rehabilitation Department, Military Hospital Mohammed V, Rabat, Morocco. Non-Hodgkin’s lymphoma of the bone is a very rare disease that accounts for approximately 5% of all extranodal non-Hodgkin’s lymphomas and for 7-10% of primary bone tumours. The authors report the case of a 28-year-old man with diffuse, large B-cell non-Hodgkin’s lymphoma. The patient received six cycles of conventional chemotherapeutic regimen. His arm pain worsened, and x-rays demonstrated progressive disease. He began a trial of rituximab, for 4 weeks. There was improvement in pain after the first infusion. Radiographic studies conducted 3 months after rituximab therapy showed marked improvement in his humerus disease. He had no evidence of recurrent lymphoma 24 months later. To access the full abstract of the article, click here.

  Резултати от първата ра...  

Montrer texteMontrer source en cacheMontrer URL avec texte source	2. До сега в България специализираните и подходящи серуми и молекулярни тестове не бяха възможни.
Comparer pages textesComparer pages HTMMontrer URL avec texte sourceMontrer URL avec langue cibleDéfinir raredis.org comme domaine prioritaire	2. The specialized and appropriate diagnostic sera and molecular tests were not available in Bulgaria so far.

  Интраваскуларна лимфома...  

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При повечето пациенти бързо се развива прогресивна деменция в комбинация с фокални неврологични симптоми. Не съществуват клинични, радиологични и лабораторни тестове за диагностициране на болестта. Резултатите от кръвните проби и изследванията на костен мозък са нормални.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “A case of a patient with cognitive impairment and gait disturbance.” (Tidsskr Nor Laegeforen. 2007 May 3;127(9):1210-1). Authors are Ruud KJ, Scheie D and Kerty E, from the Nevrologisk avdeling, Rikshospitalet-Radiumhospitalet, Norway. Intravascular lymphomatosis is a rare disease, characterized by occlusion of small arterioles and veins by malignant lymphoma cells. It often affects the central and peripheral nervous system and the skin. This case report illustrates the diagnostic challenge. Most patients develop rapidly progressive dementia combined with focal neurological symptoms. No relevant clinical, radiological or laboratory tests are available to diagnose the disease. Blood samples and bone marrow are usually normal. The prognosis is poor, but early aggressive chemotherapy can potentially prolong the life span and in a few cases be curative. To access the full abstract of the article, click here.

  Асоциация Хипофиза - Ин...  

Montrer texteMontrer source en cacheMontrer URL avec texte source	1. Информационна кампания съвместно с магазин „Крачун“. Тъй като един от симптомите на заболяването е увеличаване на размера на обувките, брошури приканват клиентите да направят тестове за акромегалия.
Comparer pages textesComparer pages HTMMontrer URL avec texte sourceMontrer URL avec langue cibleDéfinir raredis.org comme domaine prioritaire	1. Information campaign with Krachun Store. As one of the symptoms of acromegaly is the increasing size of shoes, leaflets inviting customers to test for acromegaly were distributed. The owners of the store – Ms. Vidyo Natsev and his wife Teodora have been supproting acromegaly patients for many years through donations and participation in campaigns.

  Резултати от първата ра...  

Montrer texteMontrer source en cacheMontrer URL avec texte source	3. Д-р Фаркас и Д-р Варга ще осигурят имунологични диагностични тестове за НАЕ на Клиниката по Имунология към Медицински Университет Пловдив. Доц. Мурджева ще участва при провеждане на изследванията и валидизиране на методиката.
Comparer pages textesComparer pages HTMMontrer URL avec texte sourceMontrer URL avec langue cibleDéfinir raredis.org comme domaine prioritaire	3. Dr. Farkas and Varga will provide immunological diagnostic tests for HAE to the Department of immunology at the Medical University of Plovdiv. Prof. Murdjeva will be in charge to establish and validate the methodology. The laboratory of Dr. Farkas and Varga in Budapest will be a reference lab for parallel testing of samples and validation. Expected start – in May 2005.

  Публикации Archives - С...  

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Описаният случай е приет за първия, при който се срещат метастази в тестисите в резултат на Меркел-клетъчен карцином. Полезно диагностично средство, освен невроендокринните и епителните антигенни тестове, е и сцинтиграфия на соматостатин-рецептора.

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, from the Department of Urology, Klinikum Weiden, Germany. Merkel cell carcinoma – a rare, aggressive cancer of the skin integument – is being increasingly diagnosed but represents an absolute rarity in the urogenital tract. The authors report on a 70-year-old man who was referred to them with suspected testicular cancer. The pathology report revealed a metastasized Merkel cell carcinoma. The patient described is considered to be the first to develop testicular metastasis derived from Merkel cell carcinoma. Besides neuroendocrine and epithelial antigen tests, somatostatin receptor scintigraphy is a helpful diagnostic tool. To access the full abstract of the article, click here.

  Болест на Кушинг - Инст...  

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Първата стъпка в диагностичната работа е ендогенната глюкокортикостероидна свръхсекреция чрез измерване на свободния кортизол в урината, кортизонна цикардна ритмичност или подтискане чрез ниски дози дексаметазон. При пациенти с неясни резултати се правят тестове като напр. дексаметазон- супресиран CRH тест и дезмопресин стимулация, които позволяват потвърждаването на диагнозата.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Cushing’s disease” (Pituitary. 2006 Oct 30). Authors are De Martin M, Giraldi FP and Cavagnini F, from the Chair of Endocrinology, University of Milan, Ospedale San Luca, Istituto Auxologico Italiano, Milan, Italy. Cushing’s disease, i.e., pituitary ACTH-secreting adenoma causing excess glucocorticoid secretion, is a rare disease with significant mortality and morbidity. Timely diagnosis and appropriate treatment can alter the course of the disease and are therefore mandatory. First step of the diagnostic is the endogenous glucocorticoid excess by measurement of urinary free cortisol, cortisol circadian rhythmicity or suppression by low doses of dexamethasone. In patients with equivocal results, second line tests, such as the dexamethasone-suppressed CRH test and desmopressin stimulation, usually enable the diagnosis to be confirmed. The last step in the diagnostic algorhythm is often the most fraught with problems as the distinction between Cushing’s disease and ectopic ACTH secretion. Patients cured of Cushing’s disease require long-term monitoring given the risk of relapse and clinical burden of associated ailments. To access the full abstract of the article, click here.

  Mетаболизъм на пурин и ...  

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Пирамидин деградиращите дефекти, водещи до изоставане в развитието, са уловени чрез анализ на урината за наличие на пирамидини и дехидропирамидини. Последните проучвания на дефицитите на аденилосукцинателиаза и молибден кофактор подчертават ползата от колориметричните тестове за изучаване на метаболитните нарушения.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Disorders of purine and pyrimidine metabolism“, (Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33). Author is Nyhan WL from UCSD School of Medicine, Department of Pediatrics, La Jolla, USA. A number of disorders of purine metabolism lead to immunodeficiency; these include adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. Marked susceptibility to infection is also seen in disorders of pyrimidine metabolism, classically in orotic aciduria. Orotic aciduria is a disorder of pyrimidine nucleotide synthesis, UMP synthetase deficiency, in which a single gene mutation can cause deficiency of two enzyme activities, orotic phosphoribosyltransferase and orotidine monophosphate decarboxylase which reside in a single protein. Pyrimidine degradation defects, leading to developmental delay are detected by analysis of the urine for pyrimidines and dihydropyrimidines. The recent discovery of аdenylosuccinatelyase deficiency and molybdenum cofactor deficiency points up the utility of simple colorimetric tests in bringing to light disorders of metabolism. To access the full abstract of the text article, click here.

  Асоциация Хипофиза - Ин...  

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До момента най-близката възможност да се извършват тестове на пациенти от Североизточна България бе в София и Пловдив, а сега това ще е възможно да се прави в лабораторията на унивеситетската болница.

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2. Creating opportunities for diagnosis and follow-up of patients with acromegaly at University Hospital “St. Marina”, Varna. Following a request of Pituitary Association, kits for testing growth hormone and IGF1 were donated. So far the closest possible place to perform tests on patients from northeastern Bulgaria was in Sofia and Plovdiv, and now it will be possible to do in the laboratory of “St. Marina” in Varna. According to the European recommendations on rare diseases, the Association has beeen working to create a reference center for rare diseases of the pituitary gland at the University Hospital “St. Marina”, which would be closely connected with the existing center of expertise in Sofia (University Hospital “Acad. Penchev”). Pituitary Association expresses its gratitude to Prof. Dr. Sabina Zaharieva (University Hospital “Acad. Penchev”) and Assoc. Prof. Dr. Kiril Hristozov (University Hospital “St. Marina”) for their effors to make this project come true.

  Хидатидна болест на дал...  

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Засягането на далака при хидатидна болест няма специфични проявления, диагнозата се поставя късно и често се стига до спленектомия. Това трябва да се има предвид при пациенти с киста на далака и да се потвърди чрез ултразвуково изслвдване, компютърна томография, магнитен резинанс и имунологични тестове.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Surgery in children with hydatid disease of the spleen” (J Pediatr Surg. 2006 Jul;41(7):1264-6 ). Authors are Kalinova K, Stefanova P and Bosheva M from the Department of General and Pediatric Surgery, High Medical School, Stara Zagora, Bulgaria. Hydatid disease of the spleen is a rare disease, and it occurs in 1% to 8% of all children with hydatid disease. From 1985 to 2004, in 152 children with hydatid disease, a splenectomy was performed in 14 cases, and a cystectomy was possible in only 1 case. Patients with combined forms successfully underwent different variations of cystectomy. Splenic involvement of hydatid disease has no specific clinical manifestation, the diagnosis is late and often leads to splenectomy. It has to be suspected in a patient with a splenic cyst and has to be confirmed by ultrasonography and/or computed tomography, magnetic resonance imaging, and immunologic tests. The early diagnosis is a good precondition for better results. To access the full abstract of the article, click here.