Results 11 to 20 of about 228,263 (297)

Fibromuscular dysplasia [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2007
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
openaire   +3 more sources

Frontonasal Dysplasia [PDF]

open access: yesOtolaryngology–Head and Neck Surgery, 2005
n ...
Gaball, C., Yencha, M., Kosnik, S.
openaire   +2 more sources

Dysplasia and Colitis [PDF]

open access: yesCanadian Journal of Gastroenterology, 2009
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
openaire   +3 more sources

Oculodentodigital dysplasia

open access: yesIndian Journal of Ophthalmology, 2016
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
openaire   +3 more sources

Cleidocranial dysplasia

open access: yesLung India, 2010
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
openaire   +3 more sources

Fibrous dysplasia

open access: yesJournal of the Belgian Society of Radiology, 2013
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
openaire   +5 more sources

The skeletal dysplasias [PDF]

open access: yesGenetics in Medicine, 2010
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
openaire   +2 more sources

Modern concept of the brain-lung-thyroid syndrome and its pulmonary manifestations

open access: yesZdorovʹe Rebenka, 2018
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
doaj   +1 more source

A modern understanding of the surfactant protein mutations role in the formation of interstitial lung diseases in newborns and infants

open access: yesZdorovʹe Rebenka, 2018
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
doaj   +1 more source

Interstitial lungs diseases in infants: acinar, alveolar and alveolar capillary dysplasia (2018 review of modern literature)

open access: yesZdorovʹe Rebenka, 2018
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
doaj   +1 more source

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