Irish journal of medical science
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Inherited cardiomyopathies (HCM, DCM, ACM) and cardiac ion channelopathies (long QT/Brugada syndromes, CPVT) are associated with significant morbidity and mortality; however, diagnosis of a familial pathogenic variant in a proband allows for subsequent cascade screening of their at-risk relatives. ⋯ Our study highlights the importance of collation and review of pre-ACMG genetic variants to increase diagnostic utility of genetic testing for inherited heart disease. Almost half of patients with pre-ACMG VUS reviewed had their variant re-classified to likely pathogenic/likely benign which resulted in a positive clinical impact for patients and their families.
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Accurate concussion monitoring requires access to preinjury baseline data. This is particularly important in adolescent athletes who have a high risk of concussion and are prone to prolonged recovery. As Rugby Union is governed by similar laws for men and women, it is also an ideal population to rigorously examine the impact of biological sex on concussion symptoms. ⋯ Concussion history and sex are associated with higher baseline scores on specific concussion clinical profile, concussion symptom severity, and anxiety symptoms. These findings highlight the importance of considering baseline differences when interpreting post-injury clinical profile symptoms in adolescent rugby players. (Trial registration: ACTRN12622000931774).
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People who interact with healthcare services have an ethical and legal right to control their own lives, to make informed decisions, and to consent to what happens to them. For consent to be considered ethically and legally valid, three key criteria must be met: consent must be given voluntarily; people must be sufficiently informed of all options; and people should have capacity to make the decision to give or withhold their consent. ⋯ The results highlight interesting similarities and differences in relation to consent between members of the public thinking about a possible treatment, surgery, or procedure and those patients who have actually been through the process in the past 12 months. Recommendations have been developed on the basis of these findings to co-design improvements in consent practices.
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This study investigates the roles of HIF-2α, hepcidin, and ghrelin in iron deficiency anemia (IDA), the most widespread nutritional disorder globally. ⋯ The study suggests that the low hepcidin levels in IDA patients enhance iron absorption. The lack of significant HIF-2α level differences may be due to the absence of chronic hypoxia in current hemoglobin levels of IDA patients. Moreover, the low ghrelin levels in patients and the correlations between ghrelin, hepcidin, and HIF-2α in both groups indicate their involvement in iron metabolism.
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Cytokines, including interleukin-12 (IL-12), are proteins that regulate cell survival, proliferation, differentiation, and function. IL-12 is a heterodimeric proinflammatory cytokine. It possesses tumoricidal properties and promotes M1 macrophage polarization and IFN-γ production by T helper (Th1) cells, which in turn stimulates the antitumor cytotoxic cluster of eight positive (CD8+) and natural killer cells, therefore activating an effector immune response against tumor cells. ⋯ NST is a cost-effective and accessible cancer prevention procedure for general dentists.