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  Синдром на Smith-Mageni...  
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Синдромът на Smith-Magenis (Smith-Magenis syndrome, SMS) е клинично разпознаваем генетичен синдром, който се причинява от междинна делеция на хромозома 17p11.2. Фенотипът на SMS включва характерни лицеви черти, изоставане в развитието и неврологично-поведенчески аномалии.
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, from the Department of Genetics, Hospital Robert Debre, Paris, France. Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome, caused by interstitial deletion of chromosome 17p11.2. The SMS phenotype include distinctive facial features, developmental delay and neurobehavioral abnormalities. The patients present major sleep disturbances ascribed to a phase shift of their circadian rhythm of melatonin with a paradoxical diurnal secretion of the hormone. SMS is the demonstration of biological basis for sleep disorder in a genetic disease. To access the full abstract of the article, click here.
  Синдром на Олбрайт - Ин...  
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В резултат се развива хипокалцемия, хиперфосфатемия и повишени нива на паратиреоидния хормон. Фенотипът на синдрома на Олбрайт включва 5 основни черти: брахидактилия, затлъстяване, нисък ръст, кръгло лице и умствено изоставане.
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, from the Department of Paediatrics, University of Catania, Catania, Italy. Pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy or Albright syndrome) is a rare disease, caused by the resistance to the action of the parathyroid hormone in target tissues, such as the bone, kidney, and intestine, with consequent hypocalcemia and hyperphosphatemia and increased levels of parathyroid hormone. The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation. We report on a child with a classic form of pseudohypoparathyroidism and associated Albright syndrome who developed Evans syndrome (ie, the cooccurrence of severe autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura). To access the full abstract of the article, click here.
  Неутрофилен екринен хид...  
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Авторите представят случай на 57 годишна жена с интересна медицинска анамнеза, която развива еритематозн папуларн лицев обрив. Биопсия на кожата показва типични черти за неутрофилен екринен хидраденит включително и неутрофилно инфилтриране.
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, from the Service de dermatologie, France. Neutrophilic eccrine hidradenitis (NEH) is a rare disease belonging to the group of neutrophilic dermatoses. It has a characteristic histopathologic pattern, with necrosis of the eccrine glands and a local neutrophilic infiltrate. It occurs mostly in patients receiving chemotherapy for acute myeloblastic leukemia or, less frequently, another malignancy. The authors report the case of a 56-year-old woman with no remarkable medical history who developed an erythematous papular facial eruption. Skin biopsy showed typical features of neutrophilic eccrine hidradenitis including neutrophilic infiltrate. No cause was found. The patient was successfully treated with colchicine. This case is particular because NEH was not associated with malignant hematologic disease, solid cancer, chemotherapy, fever or any other disease, after a follow-up of 22 months. To access the full abstract of the article, click here.
  Редките болести във фок...  
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Разбира се, отделните редки заболявания изискват някои специфични интервенции, но има много общи черти, които могат да бъдат използвани за намиране на решения чрез групиране и системно използване на и без това ограничения опит чрез развиването на експертни центрове например.
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AK: I think perceptions are important. When rare diseases are seen as a whole then they become visible, and the need to act collectively and strategically becomes apparent to the health care system. Of course, individual rare diseases may require some specific interventions, but there is a commonality that can be created by clustering and the systematic use of scarce expertise through the development of centres of expertise. These can be real or virtual, and there must be imaginative use of novel ways of working such as e-medicine to bring this about. The first step though is to define the issue in a way that those with access to power, influence and resources can understand, and then see a way to address. Until this happens there is a risk that the needs of rare disease patients will be lost in the fog of competing demands on the time and attention of policymakers and the professional community.
  Мускулна дистрофия тип ...  
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Към нашата база данни е добавено ново рядко заболяване – Мускулна дистрофия тип Дюшен. Мускулните дистрофии са група от заболявания, които имат три общи черти: наследственост, прогресивно развитие, всяка предизвиква характерен тип слабост.
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A new disease profile is added to our database – Duchenne muscular dystrophy. The muscular dystrophies are a group of muscle diseases which have three features in common: they are hereditary; they are progressive; and each causes a characteristic, selective pattern of weakness. The most distinctive feature of Duchenne muscular dystrophy (DMD) is a progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves. The bulbar (extraocular) muscles are spared but the myocardium is affected. Duchenne muscular dystrophy is due to a defect of a gene, the normal function of which is to enable muscle fibres to make a particular chemical substance, a protein called dystrophin. Muscle fibres in people affected with DMD are extremely deficient in dystrophin. DMD affects predominantly males with approximate frequency of 3 per 100 000. Unless a boy with DMD is known to be at risk because of his family history, he is unlikely to be diagnosed before the age of 2 or 3 years. 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.