чест – -Translation – Keybot Dictionary

  Болест на Фабри - Инсти...  

Show textShow cached sourceOpen source URL	Това е Х-свързана лизозомна болест на натрупването, причинено от увреда на α-галактозидаза А. Ензимо заместителната терапия е налична за лечението на пациентите, при които чест проблем e късното диагностициране.
Compare text pagesCompare HTM pagesOpen source URLOpen target URLDefine raredis.org as primary domain	The journal European Journal of Pediatrics has published an article about Fabry disease. Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. The full-text article you can find here.

  Разгадаване на генетичн...  

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Списанието Scientific Reports публикува доклад относно пигментозния ретинит. Пигментозният ретинит е най-честата форма на наследствена дистрофия на ретината, характезиризащ се най-вече с фоторецепторна дегенерация.

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The journal Scientific Reports has published a report about retinitis pigmentosa. Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder. The full-text report you can find here.

  Болест на Шарко-Мари-Ту...  

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Списанието Journal of Neurology, Neurosurgery and Psychiatry публикува статия относно болестта на Шарко-Мари-Тут тип 1А (Charcot-Marie-Tooth disease type 1A – CMT1A). CMT1A е най-честата наследствена невропатия, инвалидизиращо заболяване без лечение.

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The journal Journal of Neurology, Neurosurgery and Psychiatry has published an article about Charcot-Marie-Tooth disease type 1A (CMT1A). CMT1A is the most common inherited neuropathy, a debilitating disease without known cure. Among patients with CMT1A, disease manifestation, progression and severity are strikingly variable, which poses major challenges for the development of new therapies. The full-text article you can find here.

  Публикации Archives - С...  

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, от Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy. Сиалореята е чест симптом при пациенти с латерална амиотрофична склероза (ЛАС) и Паркинсонова болест (ПБ) и може да бъде инвалидизираща.

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, from the Istituto di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy. Sialorrhea is frequent and invalidating in patients with amyotrophic lateral sclerosis (ALS) or Parkinson’s disease (PD). Botulinum toxin (BTX) emerged as an alternative to traditional treatments. We evaluated efficacy and tolerability of ultrasound-guided BTX-B injections in parotids and submandibular glands in 18 patients with ALS or PD.BTX-B seems efficacious in reducing sialorrhea in ALS and PD but the risk-benefit ratio might differ between these two conditions. This might have implications for clinical practice. To access the full abstract of the article, click here.

  Болест на Фабри - Инсти...  

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Болестта е Х-свързано наследствено лизозомно заболяване на натрупването причинено от дефицит на ензима α-галактозидаза А. Сърдечно съдовите болести са честа причина за смъртността при FD, в частност като резултат от сърдечна недостатъчност или аритмия, със значителна част от събитията, категоризирани като внезапни.

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The journal Europace has published an article about Fabry disease (FD). FD is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A enzyme. Cardiovascular (CV) disease is a common cause of mortality in FD, in particular as a result of heart failure and arrhythmia, with a significant proportion of events categorized as sudden. There are no clear models for risk prediction in FD. The full-text article you can read here.

  Новини за муковисцидоза...  

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PubMed, порталът за биомедицинска и научна литература индексира интересна статия на тема „Запазване на функционални delF508-CFTR канали на епителните клетки при муковисцидоза чрез алфа-глюкозидаза инхибиторът miglustat“ (FEBS Lett. 2006 Mar 10). При заболяването муковисцидоза (cystic fibrosis,CF) най-честата мутация delF508 се проявява със задържане в ендоплазмичния ретикулум на погрешно прегънати CF ген протеини (CFTR).

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, from the Institut de Physiologie et Biologie Cellulaires, CNRS UMR 6187, Universite de Poitiers, France. In the disease cystic fibrosis (CF), the most common mutation delF508 results in endoplasmic reticulum retention of misfolded CF gene proteins (CFTR). The authors show that the alpha-1,2-glucosidase inhibitor miglustat (N-butyldeoxynojirimycin, NB-DNJ) prevents delF508-CFTR/calnexin interaction and restores cAMP-activated chloride current in epithelial CF cells. Since miglustat is an orally active orphan drug (Zavesca((R))) prescribed for the treatment of Gaucher disease, these findings provide the basis for future clinical evaluation of miglustat in CF patients. To access the full abstract of the article, click here.

  Папиломатоза на билиарн...  

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Това рядко заболяване, което се характеризира с повтарящи се епизоди на обструктивна жълтеница и холангит, които водят до вторична цироза и смърт в резултат на сепсис или чернодробна недостатъчност, се приема и за ранна форма на злокачествено заболяване поради честата му трансформация в злокачествено (25-50%).

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, from the Department of Transplant Surgery, Aristotle University, Hippokration Hospital, Thessaloniki, Greece. Approximately 60 cases of biliary papillomatosis have been reported in the world literature, while only 6 cases have been reported to be treated with liver transplantation. This rare disease, which is characterized by relapsing episodes of obstructive jaundice and cholangitis that lead to secondary cirrhosis and death from sepsis or liver failure, it is also considered premalignant because of its frequent malignant transformation (25-50%). The authors present a case of a 43-year-old white man with papillomatosis of intra- and extrahepatic biliary tree who sought care for repeated episodes of obstructive jaundice and cholangitis. The patient underwent orthotopic liver transplantation with Roux-en-Y hepatico-jejunostomy to treat end-stage liver cirrhosis. To access the full abstract of the article, click here.

  Анхидрот. ектодермална ...  

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Към нашата база данни е добавено ново рядко заболяване – Анхидротичната ектодермална дисплазия (EDA I). Анхидротичната ектодермална дисплазия (EDA I) или Christ-Siemens-Touraine синдром е най-честата форма на хипохидротична ектодермална дисплазия.

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A new disease profile is added to our database – Anhydrotic ectodermal dysplasia (EDA I). Аnhydrotic ectodermal dysplasia (EDA I) оr Christ-Siemens-Touraine syndrome is the most common form of hypohydrotic ectodermal dysplasia. The word hypohydrosis means diminished sweating ability, while ectodermal dysplasia refers to defects in the development of the ectoderm, which is the layer of cells in the embryo that develops into skin, hair, teeth, nails and secretory glands (tear glands, salivary glands, and mucous glands in the throat, larynx, respiratory system and intestinal tract). Full expression of the syndrome is found mainly in males (because the most common form is X-linked). According to the international literature, the incidence is estimated to be between 1 and 7 per 100 000 live births. In most cases, anhydrotic ectodermal dysplasia is inherited as an X-linked recessive genetic trait, which means that boys have the most pronounced symptoms. This is because they only have one X chromosome. Girls have two X chromosomes, and if one of these carries the predisposition for the syndrome it is compensated for by the other, normal chromosome. As a result, girls usually have less pronounced symptoms. 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.

  Синдром на Баракер-Симъ...  

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Придобитата парциална липодистрофия обикновено започва в детска възраст, средно около 8 годишна възраст. Засяга предимно женския пол (съотношение жени:мъже=4:1) и често началото на заболяването е след остро фебрилно състояние.

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A new disease profile is added to our database – Barraquer-Simons syndrome. Acquired partial lipodystrophy, also known as Barraquer-Simons syndrome or cephalothoracic lipodystrophy, is one of the rare forms of lipodystrophy. Acquired partial lipodystrophy usually begins in childhood, at a median age of 8 years. It predominantly affects females (ratio 4:1) and often follows an acute febrile illness. Fat loss is usually limited to the face, trunk, and upper extremities. Simultaneously, fat hypertrophy occurs in the lower extremities. This is a rare syndrome with unknown prevalence, although it is more common than the generalized form of acquired lipodystrophy (Lawrence syndrome). 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.

  Лечение на ТTP с rituxi...  

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При тази група пациенти са използвани различни имуносупресивни подходи за лечение с варираща ефикасност. Авторите докладват случай на хронична ТТП с 11-годишна продължителност, изискваща честа обмяна на плазма и безуспешно третирана с няколко имуносупресивни агента.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed the case report “Chronic relapsing thrombotic thrombocytopenic purpura successfully treated with rituximab (J Chemother. 2005 Aug;17(4):449-51). Authors of this case report are Gianfaldoni G, Antonioli E, Mannelli F et al., from Department of Hematology, University of Florence, University Hospital Careggi, Florence, Italy. Plasma therapy is a cornerstone in the treatment of idiopathic Thrombotic Thrombocytopenic Purpura (TTP); however about one-third of patients relapse. In this subset of patients different immunosuppressive approaches have been reported with variable efficacy. The authors describe the case of an 11-year-long chronic relapsing TTP, requiring frequent plasma exchange procedures and treated unsuccessfully with several immunosuppressive agents. On the occasion of a further relapse, the patient was treated with rituximab, and achieved normalization of hematological values and clinical status for about one year. Upon further relapse, rituximab therapy was started again successfully. A monthly administration was performed with the aim of maintaining the clinical and hematological response stable. In conclusion, rituximab is a safe and effective alternative to other immunosuppressive therapies for chronic relapsing TTP patients. To access the full abstract of the report, click here.

  Ефикасност и безопаснос...  

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Към 20-годишна възраст, почти всички пациенти с мускулна дистрофия Дюшен или Бекер имат дилатационна кардиомиопатия. Тя има голямо значение за прогнозата на заболяването и е честа причина за смърт от сърдечна недостатъчност.

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, from the Department of Cardiology, Children’s Hospital Boston, 300 Longwood Avenue, Boston, MA 02115, USA. By the age of 20 years, almost all patients with Duchenne’s or Becker’s muscular dystrophy have experienced dilated cardiomyopathy (DCM), a condition that contributes significantly to their morbidity and mortality. Although studies have shown carvedilol to be an effective therapy for patients with other forms of DCM, few data exist concerning its safety and efficacy for patients with muscular dystrophy. Carvedilol therapy appears to be safe for patients with DCM secondary to muscular dystrophy and produces a modest improvement in systolic and diastolic function. To access the full abstract of the article, click here.

  Тортиколис - Цервикална...  

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Фокалните дистонии обхващат една част от тялото. Тортиколис спастика е най-честата фокална дистония, която може да бъде самостоятелно проявена или като част от сегментна или генерализирана дистония. Заболяването е по-често при жените, проявява се във всяка възраст, но най-често между 40 и 50 години.

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A new disease profile is added to our database – “Torticollis, Cervical dystonia”. Dystonia – sustained abnormal postures and disrupting of ongoing movement, resulting from alterations in muscle tone. Focal dystonias affect a single body region. Torticollis spastica is the most frequent of them and it may appear on its own or as a part of a generalized dystonia. This condition is more frequent in women, appearing usually between the age of 40 and 50 years. Cervical dystonia starts with sub acute symptoms such as stiff neck and tension in the muscles of the area. These evolve into everyday complaints that change the posture of the head. Depending on the muscles affected, different types of Torticollis may occur. 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

  Aритмогенна дясна вентр...  

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Aритмогенната дясна вентрикуларна кардиомиопатия/дисплазия е заболяване, което се характеризира с живото-застрашаващи аритмии. Честотата му се изчислява на 1:2500 до 1:5000. Това е най-честата причина за внезапна сърдечна смърт при млади хора и атлети.

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PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled Arrhythmogenic right ventricular cardiomyopathy/dysplasia (Orphanet Journal of Rare Diseases 2007, 2:45doi:10.1186/1750-1172-2-45). Authors are Gaetano Thiene Domenico Corrado and Cristina Basso. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease characterized by life-threatening ventricular arrhythmias. Its prevalence has been estimated to vary from 1:2,500 to 1:5,000. ARVC/D is a major cause of sudden death in the young and athletes.The pathology consists of a genetically determined dystrophy of the right ventricular myocardium with fibro-fatty replacement, that it leads to right ventricular aneurysms. The clinical picture may include: a subclinical phase without symptoms and with ventricular fibrillation being the first presentation; an electrical disorder with palpitations and syncope, due to tachyarrhythmias of right ventricular origin; right ventricular or biventricular failure, requiring transplantation. To access the full abstract of the article, click here.

  Анхидрот. ектодермална ...  

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Към нашата база данни е добавено ново рядко заболяване – Анхидротичната ектодермална дисплазия (EDA I). Анхидротичната ектодермална дисплазия (EDA I) или Christ-Siemens-Touraine синдром е най-честата форма на хипохидротична ектодермална дисплазия.

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A new disease profile is added to our database – Anhydrotic ectodermal dysplasia (EDA I). Аnhydrotic ectodermal dysplasia (EDA I) оr Christ-Siemens-Touraine syndrome is the most common form of hypohydrotic ectodermal dysplasia. The word hypohydrosis means diminished sweating ability, while ectodermal dysplasia refers to defects in the development of the ectoderm, which is the layer of cells in the embryo that develops into skin, hair, teeth, nails and secretory glands (tear glands, salivary glands, and mucous glands in the throat, larynx, respiratory system and intestinal tract). Full expression of the syndrome is found mainly in males (because the most common form is X-linked). According to the international literature, the incidence is estimated to be between 1 and 7 per 100 000 live births. In most cases, anhydrotic ectodermal dysplasia is inherited as an X-linked recessive genetic trait, which means that boys have the most pronounced symptoms. This is because they only have one X chromosome. Girls have two X chromosomes, and if one of these carries the predisposition for the syndrome it is compensated for by the other, normal chromosome. As a result, girls usually have less pronounced symptoms. 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.

  Ихтиоза - Институт по р...  

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Съществуват поне 20 типа ихтиоза. Ихтиозата не е заразна. Някои форми на ихтиоза са унаследени, докато други са продобити като симптоми на други системни нарушения. Най-честата форма на ихтиоза се нарича

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A new disease profile is added to our database – ichthyosis. Ichthyosis is a congenital dermatological disease that is represented by thick, scaly skin. There are at least 20 types of ichthyosis. Ichthyosis is not contagious. Some forms of ichthyosis are inherited while others are acquired in later life as a symptom of systemic disorders. The most common form of ichthyosis, accounting for 95% of all cases of ichthyosis, is called

  Болест на Гоше - Инстит...  

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Към нашата база данни е добавено ново рядко заболяване – болест на Гоше. Болестта на Гоше е автозомно- рецесивно заболяване, най-честата наследствена лизозомна болест. Дължи се на дефицит на ензима глюкоцереброзидаза, което води до натрупване на липида глюкоцереброзид в лизозомите на макрофагите, наричани още „клетки на Гоше”.

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A new disease profile is added to our database – Gaucher disease. Gaucher disease is the most common disorder among the lysosomal storage diseases. It has an autosomal recessive way of inheritance. The deficiency of the enzyme gluco cerebrosidase causes accumulation of the lipid glucocerebrosid into lysosomes of the macrophages, also called “Gaucher cells”. The disease is characterized by anemia, thrombocytopenia, hepatosplenomegaly, bone changes, growth and mental delay. When untreated it leads to irreversible disability and early mortality. The causative gene for the three types of the disease,

  Хeпатолитиазата: рядко ...  

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Там е известно още като ориенталски холангиохепатит. Най-честа причина за появата на интрхепатални камъни са метаболитните нарушения, структурните или вродените малформации на интрхепаталните жлъчни пътища.

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, from the Chirurgische Universitätsklinik mit Poliklinik , Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland. Hepaticolithiasis is a rare disease of the intrahepatic bile ducts endemic to east Asia which also is known as oriental cholangiohepatitis. Beside strictures and metabolic disturbance, the main cause of intrahepatic stones is acquired or congenital malformation of the intrahepatic biliary ducts. In the following we show a case of hepaticolithiasis and concurrent pancreatic metaplasia. To access the full abstract of the article, click here.