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Fibromuscular dysplasia (FMD), formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that.
Jeunemaitre Xavier+5 more
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n ...
Gaball, C., Yencha, M., Kosnik, S.
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The issue of dysplasia within the setting of chronic colitis is rapidly evolving, and more aggressive endoscopic management and surveillance is clearly being suggested in selected cases (1–3). With the advent of more effective therapies such as tumour necrosis factor inhibitors, it has been suggested that some patients are likely to be managed with ...
Robert Enns, Brian Bressler
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Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo),
Dharmil C Doshi+3 more
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Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal abnormalities.
Dixit Ramakant, Dixit Kalpana, Paramez A
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A 45-year-old man presented to the emergency room for left leg pain following after a fall. Standard X-Rays showed no fracture but revealed, at the distal extremity of the tibial diaphysis, a 3 cm long, ovoid intramedullary lesion with thinning the cortex on the lateral side. There was no focal calcification or septation (A).
Van Caulaert, M A, Mailleux, P
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The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria.
Deborah Krakow+2 more
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Modern concept of the brain-lung-thyroid syndrome and its pulmonary manifestations
This article is a review of the modern world literature on the brain-lung-thyroid syndrome in children. The authors focused on the etiology and features of ontogenesis of the involved organs in the presence of NKX2-1 gene mutation.
O.L. Logvinova, M.A. Gonchar
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The article presents a modern understanding of the components of the surfactant, the functions of non-serum proteins SP-A, SP-B, SP-C and SP-D. The history of the discovery of protein deficiencies SP-B, SP-C and ABCA3 is described.
O.L. Logvinova, M.A. Gonchar
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The article presents a clinical сase of alveolar capillary dysplasia in a child aged 3 months. The discussion included terminological aspects, pathomorphological, diagnostic criteria of diffuse lung developmental disorders. Modern principles of treatment
O.L. Logvinova
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