نتایج جستجو برای: digital syndrome
تعداد نتایج: 920249 فیلتر نتایج به سال:
QUESTION UNDER STUDY To investigate the aetiology and long-term clinical outcomes of patients diagnosed with digital ischemia. METHOD Data of 36 consecutive patients presenting with digital ischemia were collected in July 2000 to June 2001 from a vascular referral centre. Demographic data, aetiology, medication and treatment were abstracted from the medical records. Clinical outcomes were ass...
Digital ulcers and gangrene are common skin manifestations of connective tissue diseases, especially systemic sclerosis, although they are relatively rare in systemic lupus erythematosus. We describe here three patients with digital gangrene and systemic lupus erythematosus. None of the patients showed high disease activity of systemic lupus erythematosus at the time the digital gangrene develo...
BACKGROUND Pallister-Killian syndrome (PKS) is a prototypic mosaic aneuploidy syndrome caused by mosaic supernumerary marker isochromosome 12p. Cells possessing the isochromosome 12p rapidly diminish after birth in the peripheral blood, often necessitating a skin biopsy for diagnosis. Therefore, a genomic testing that is capable of detecting low percent mosaic isochromosome 12p is preferred for...
Actas Dermosifiliogr. 2009;100:719-40 734 5. Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet. 2007;143:3314-23. 6. Rimoin DL, Edgerton MT. Genetic and c linical heterogeneity in the oral-facial-digital syndrome. J Pediatr. 1967;71:94-102. 7. Anneren G, Arvidson B, Gustavson KH, Jorulf H, Carlsson G. Oral-facial-digital sy...
To the Editor : OFD1 mutations are responsible for X-linked dominant oral-facial-digital syndrome type I (OFDSI), as well as for four recessive X-linked phenotypes: mental retardation (MR) with macrocephaly, obesity, distal limb abnormalities and ciliary dysfunction [Simpson–Golabi–Behmel syndrome type 2 (SGBS2)], JS (Joubert syndrome) with polydactyly and retinal involvement (JBST10), an uncla...
The oral-facial-digital syndromes (OFD) are part of a great number of genetic disorders. They are classified in categories based on characteristic abnormalities, including OFD type I (Papillon-Leage and Psaume syndrome) and OFD type II (Mohr syndrome). The aim of this article is to describe a clinical case of a patient with oralfacial-digital type II syndrome or Mohr syndrome, who underwent sur...
The treatment of nerve disorders of the upper extremity has become a highly specialized area. There has been an evolution in the electrodiagnostic approach for evaluating patients with these disorders. Portable automated nerve conduction testing systems are becoming popular for limited nerve conduction testing in the office. Differential latency testing can aid in the diagnosis of dynamic nerve...
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