Annals of medicine
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Nearly half of all heart failure (HF) patients have diastolic HF (DHF) or clinical HF with normal or near-normal left ventricular ejection fraction (LVEF). Although the terminology has not been clearly defined, it is increasingly being referred to as HF with preserved ejection fraction (HFPEF). The prevalence of HFPEF increases with age, especially among older women. ⋯ As in SHF, HFPEF is also associated with poor outcomes. While therapies with angiotensin-converting enzyme inhibitors and beta-blockers improve outcomes in SHF, there is currently no such evidence of their benefits in older HFPEF patients. In this review recent advances in the diagnosis and management of HFPEF in older adults are discussed.
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Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these disorders, although this may be overshadowed by central neurological features. This review is aimed at a general medical and neurologist readership and provides a clinical approach to the recognition, investigation, and treatment of mitochondrial myopathies. Emphasis is placed on practical management considerations while including some recent updates in the field.
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Chronic obstructive pulmonary disease (COPD) is associated with several extrapulmonary effects that contribute to the severity of the disease. Vitamin D is suggested to play a role in COPD and its related extrapulmonary effects. ⋯ The majority of COPD patients had vitamin D deficiency. Plasma 25(OH)D concentration was positively associated with bone density and exercise capacity. Intervention studies are necessary to determine whether vitamin D supplementation is of benefit in the prevention or treatment of osteoporosis and poor exercise capacity in patients with COPD.
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Hypertrophic cardiomyopathy (HCM) is predominantly caused by a large number of various mutations in the genes encoding sarcomeric proteins. However, two prevalent founder mutations for HCM in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes have previously been identified in eastern Finland. ⋯ The TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.