Mutations in the lamin A/C (LMNA) gene cause significant disruption to skeletal and myocardial muscle, as well as nervous tissue. We describe a case illustrating varied manifestations of a LMNA mutation and the implications for diagnosis and management. We turn to several family studies that describe considerable phenotypic variation arising from LMNA mutations.
View Article and Find Full Text PDFPurpose: To determine the incidence and predictors of femoral tunneled dialysis catheter (TDC)-related complications and whether prophylactic anticoagulation is associated with reduced catheter-related deep vein thrombosis (CRT) or prolonged patency.
Methods: A retrospective review of femoral TDCs inserted for maintenance hemodialysis in patients from two dialysis units that have used two different strategies to reduce thrombotic complications. One center routinely considered all femoral TDCs for prophylactic anticoagulation, whilst the other restricted anticoagulation to TDCs that had required repeated treatment with urokinase locks to maintain patency.
Metformin is the first-line oral agent in the treatment of type 2 diabetes and has many established benefits, including the reduction of macrovascular complications of diabetes. Its prescription in patients with renal impairment is limited by concerns relating to the theoretical risk of lactic acidosis, a fear which is perpetuated by numerous case reports in which it is implicated. Critical review of this literature calls into question the validity of these claims, with metformin usually acting as an 'innocent bystander' in acutely unwell patients with conditions well recognised to precipitate lactic acidosis such as sepsis or hypovolaemia.
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