Medical principles and practice : international journal of the Kuwait University, Health Science Centre
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No abstract applicable.
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The purpose of this review was to ascertain whether patients with Brugada syndrome (BrS) having SCN5A mutations have a more severe clinical phenotype and prognosis than do patients without SCN5A mutations. ⋯ In this review, we show how the SCN5A mutation status predicts phenotypic characteristics and prognosis in patients with BrS. We conclude that SCN5A mutations weakly predict greater malignant arrhythmic event risk in BrS patients. However, SCN5A mutations do not show robust enough associations with severity indicators to be an independent part of current risk stratification strategies. With advancing knowledge of BrS genetics, the integration of data on rare variants of SCN5A and polygenic risk scores could make an impact on clinical decision-making.
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Pressure injuries are a health problem of special concern for older adults, and different scales are used to assess the risk of developing these ulcers. We assessed the prevalence of residents at high risk of pressure injuries using a Norton scale and examined its relationships with the most important risk factors in a large sample of Italian nursing homes (NHs). ⋯ The prevalence of NH residents at high risk of pressure injuries was very high using the Norton scale, but the percentage of residents who develop these ulcers is lower. Female NH residents with advanced age, dementia, and a history of cerebrovascular disease should be carefully monitored.
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Neuroblastoma is a common fatal tumor of childhood. Natural killer (NK) cells can exert direct cytotoxicity on tumor cells. The killer immunoglobulin-like receptor (KIR) family of NK cell receptors is involved in activation/inhibition of NK cells. In the KIR gene cluster, six of them (3DS1, 2DS1-5) encode receptors triggering activation, while seven of them (3DL1-3, 2DL1-3, 2DL5) encode receptors triggering inhibition. We aimed to assess the distribution of genetic polymorphisms of KIRs on the clinical course of neuroblastoma and provide guidance on potential therapeutic options. ⋯ Our data suggest a role for KIR2DS3 and KIR2DL3 in development of neuroblastoma. Thus, modulation of KIR2SD3 and/or KIR2DL3 expression or function might present a novel therapeutic strategy for neuroblastoma.