The American journal of medicine
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Case Reports
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy.
Fabry disease is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these 2 diseases diverge, with Fabry disease-specific treatment utilizing recombinant α-galactosidase A enzyme replacement therapy. ⋯ These observations support consideration for routine prospective screening for Fabry disease in all patients without a definitive etiology for left ventriclar hypertrophy. This strategy would likely result, through cascade family testing, in the earlier identification of new Fabry disease-affected males and female heterozygotes who may benefit from monitoring and/or enzyme replacement therapy.
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Community-acquired pneumonia and healthcare-associated pneumonia are often treated with prolonged antibiotic therapy. Procalcitonin (PCT) has effectively and safely reduced antibiotic use for pneumonia in controlled studies. However, limited data exist regarding PCT guidance in real-world settings for management of pneumonia. ⋯ In this real-world study, PCT guidance led to shorter durations of total antibiotic therapy and abridged inpatient length of stay without affecting hospital readmissions.
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Stress cardiomyopathy is a transient cardiac syndrome characterized by reversible left ventricular systolic dysfunction precipitated by emotional or physiologic stress. The presence of obstructive coronary artery disease has been noted in stress cardiomyopathy. ⋯ We believe that the physiologic stress of the acute coronary syndrome may have precipitated the stress cardiomyopathy as presented by these patients. This is the first demonstration that stress cardiomyopathy may be precipitated by acute coronary syndrome.
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Computer science advances and ultra-fast computing speeds find artificial intelligence (AI) broadly benefitting modern society-forecasting weather, recognizing faces, detecting fraud, and deciphering genomics. AI's future role in medical practice remains an unanswered question. Machines (computers) learn to detect patterns not decipherable using biostatistics by processing massive datasets (big data) through layered mathematical models (algorithms). ⋯ While diagnostic confidence never reaches 100%, combining machines plus physicians reliably enhances system performance. Cognitive programs are impacting medical practice by applying natural language processing to read the rapidly expanding scientific literature and collate years of diverse electronic medical records. In this and other ways, AI may optimize the care trajectory of chronic disease patients, suggest precision therapies for complex illnesses, reduce medical errors, and improve subject enrollment into clinical trials.
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A primary care-staffed transition clinic is one potential strategy for reducing 30-day re-admissions for patients without an established primary care physician, but the effectiveness has not been studied. The objective was to test whether patients who completed a postdischarge transition clinic appointment were less likely to be readmitted within 30 days. ⋯ A primary care-staffed transition clinic is a promising strategy for providing access after a recent hospitalization and effectively managing the initial posthospital discharge needs of vulnerable populations.