نتایج جستجو برای: mulibrey nanism pericarditis
تعداد نتایج: 4245 فیلتر نتایج به سال:
Mulibrey nanism (MUL) is a rare autosomal recessive multi-organ disorder characterized by severe prenatal-onset growth failure, infertility, cardiopathy, risk for tumors, fatty liver, and type 2 diabetes. MUL is caused by loss-of-function mutations in TRIM37, which encodes an E3 ubiquitin ligase belonging to the tripartite motif (TRIM) protein family and having both peroxisomal and nuclear loca...
We evaluated the glucose and lipid metabolism in 65 patients (aged 1.1-55 years) with mulibrey (muscle-liver-brain-eye) nanism (MUL), which is a monogenic disorder with prenatal-onset growth failure and typical clinical characteristics. MUL is caused by mutations in the TRIM37 gene, encoding a peroxisomal protein (TRIM37) with E3 ubiquitin-ligase activity. The subjects underwent clinical evalua...
To cite: Kumar MH, Kumar MS, Siva Kumar V, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015211429 DESCRIPTION 3-M syndrome is a rare autosomal recessive disorder characterised by short stature, dysmorphic facial features and skeletal abnormalities. Individuals with 3-M syndrome have a recognisable pattern of features including a triangular face with poi...
the usage of implantable cardiac defibrillator (icd) since 1980s is becoming more popular these days. the rate of both, endocarditis and constrictive pericarditis are low but it still needs attention. we are reporting a rare case of icd endocarditis as a result of toe infection in a diabetic patient. this was followed by infectious pericarditis after device removal by open heart surgery and the...
tuberculosis pericarditis as a potentially fatal complication of tuberculosis requires effective diagnosis and treatment. we evaluated the efficacy of interferon-gamma (ifn-gamma) and adenosine deaminase (ada) for diagnosing tuberculosis pericarditis in a cohort of iranian patients presenting with pericarditis. we enrolled 38 patients with presentation of pericarditis. all patients underwent di...
influenza h1n1 infection leading to cardiac tamponade in a previously healthy patient: a case report
conclusions this case highlights the potential severity of h1n1 infections and the utility of considering cardiac tamponade in patients presenting with influenza symptoms and circulatory collapse. case presentation we describe a case of a young female with no prior cardiovascular history who presents with a pericardial effusion and shock secondary to cardiac tamponade from pericarditis due to h...
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