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Background: Impaired sensation in the feet is a commonly reported symptom experienced by people with multiple sclerosis. Aim: To explore the lived experiences of people living with multiple sclerosis-related impaired sensation in their feet. Method: Five open, unstructured interviews were analysed using a descriptive phenomenological method developed by Amedeo Giorgi. Findings: The essential structure of the research phenomenon consists of six key constituents: sense of heightened awareness of body sensation; sense of changed relationship to the feet; sense of changed participation in daily life; sense of the self with multiple sclerosis; sense of the meaning of interaction with others; and sense of being with impaired sensation. Conclusions: Findings imply that the experience of impaired sensation in the feet related to multiple sclerosis is a complex, lived-through phenomenon, interrelated to other aspects experienced with the condition. Clinicians are encouraged to consider implications of the phenomenon during encounters with people with multiple sclerosis, being well-placed to provide meaningful support.
Abstract Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to similar to 1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) variant BP associations (P < 5 x 10(−8)), of which 32 were in new BP-associated loci and 55 were independent BP-associated single-nucleotide variants within known BP-associated regions. Average effects of rare variants (44% coding) were similar to 8 times larger than common variant effects and indicate potential candidate causal genes at new and known loci (for example, GATA5 and PLCB3). BP-associated variants (including rare and common) were enriched in regions of active chromatin in fetal tissues, potentially linking fetal development with BP regulation in later life. Multivariable Mendelian randomization suggested possible inverse effects of elevated systolic and diastolic BP on large artery stroke. Our study demonstrates the utility of rare-variant analyses for identifying candidate genes and the results highlight potential therapeutic targets.