The American journal of medicine
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Transthyretin (TTR) gene mutations are the most common cause of hereditary amyloidosis. Valine replaced by isoleucine in position 122 (V122I) variant is common, particularly in the black population. Carriers of V122I have increased risk for developing cardiac amyloidosis. Despite a relatively high prevalence, the penetrance of V122I is not firmly established. This study sought to determine the prevalence of clinically apparent cardiac amyloidosis among carriers of the TTR V122I variant. ⋯ Carriers of the TTR V122I variant are at a higher risk for development of cardiac amyloidosis, particularly at age>60 years. However, clinically apparent cardiac amyloidosis in this population was uncommon. These results support that the penetrance of TTR V122I is age dependent and suggest it may be significantly lower than previously reported.
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Falanga is a widespread form of torture, but details of the chronic skin sequelae on physical examination are unreported. ⋯ Plantar hyperpigmentation was present in all cases 9 months to 10 years after suffering falanga. This physical sign can support victims' legal requests for political asylum, and its recognition can aid physicians who care for torture victims.
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The role of the electrocardiogram for risk stratification in patients with severe aortic stenosis is not established. We assessed the hemodynamic correlates and the prognostic value of the corrected QT interval (QTc) in patients with severe aortic stenosis undergoing aortic valve replacement. ⋯ In patients with severe aortic stenosis, prolonged QTc is a marker of an advanced disease stage associated with an adverse hemodynamic profile and increased long-term mortality after aortic valve replacement.
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Malnutrition is a major determinant of health outcomes among the older adult population. Our goal was to evaluate the impact of malnutrition on hospitalization outcomes for older adults who were admitted with a diagnosis of sepsis. ⋯ Among the geriatric population diagnosed with sepsis, malnutrition is an independent predictor for poor hospitalization outcomes.
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The Centers for Disease Control and Prevention and New York State Department of Health recently identified the Capital District of New York (CDNY) as an emerging endemic area for blastomycosis. However, no clinical or epidemiological description of blastomycosis in the CDNY has been published. ⋯ Our data support recent reports that blastomycosis is an emerging disease in the CDNY. Most patients were misdiagnosed as malignancy or non-mycotic infection, which led to treatment delays.