نتایج جستجو برای: proteus syndrome
تعداد نتایج: 626870 فیلتر نتایج به سال:
Compartment syndrome is an orthopedic emergency with a multitude of etiologies. Although it is most commonly associated with trauma to the extremity, hematoma and infection are 2 rare etiologies of insidious compartment syndrome. Proteus mirabilis is an opportunistic gram-negative species that can infect the respiratory tract, urinary tract, and open wounds. The authors present the case of a 69...
emierre’s syndrome consists of a pharyngeal infection assoiated with septicemia and internal jugular thrombosis with eptic emboli. This condition was described in 1936 by ndre Lemierre.1,2 It was initially named as post-anginal epticemia, and then, ‘‘forgotten disease’’, by becoming rare condition after the advent of antibiotics, with fewer han 100 cases reported since 1974.2 Lamierre’s syndrom...
1. Yuan TL, Cantley LC. PI3K pathway alterations in cancer: variations on a theme. Oncogene 2008: 27: 5497–5510. 2. Lindhurst MJ, Sapp JC, Teer JK et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011: 365: 611–619. 3. Kurek KC, Luks VL, Ayturk UM et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012: 90: 11...
Proteus syndrome (PS) is a rare and sporadic disorder characterized by overgrowth of multiple tissues and a propensity to develop particular neoplasms. The clinical manifestations of PS include macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and asymmetric fat distribution, asymmetric muscle development, connective tissue nevi, an...
The clinical features and cytogenetic results of an 18 year old mentally handicapped female found to be a mosaic for a tandem duplication of chromosome 1 (46,XX,dup(1)(q12q22)/46,XX) are reported. The case is compared with the three previously described cases and possible mechanisms for the origin of the duplication are discussed. This patient was not found to have features of Proteus syndrome ...
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