Publications by authors named "Yoshihito Kita"
Introduction: Familial hypercholesterolaemia (FH) is an autosomal-dominant inherited genetic disease. It carries an extremely high cardiovascular risk associated with significantly elevated low-density lipoprotein (LDL) cholesterol. The diagnostic rate of this disease in some European nations is quite high, due to the presence of multiple prospective registries.
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- The study aimed to identify genetic variants causing cardiac conduction system disease (CCSD) in patients using whole-exome sequencing (WES) and evaluate the effectiveness of functional studies in determining pathogenicity.
- Researchers conducted WES on 23 patients with early-onset CCSD and analyzed 117 genes associated with heart conditions, identifying five patients with pathogenic protein truncating variants and finding 21 additional variants of uncertain significance.
- Functional analyses using zebrafish models demonstrated that certain genetic variants affected heart function, leading to a reclassification of some variants from uncertain to likely pathogenic in six patients, highlighting the potential of such studies in genetic research.
Background: The quality of acute aortic syndrome (AAS) assessment by emergency medical service (EMS) and the incidence and prehospital factors associated with 1-month survival remain unclear.
Methods: We retrospectively analyzed the data collected for 94,468 patients with non-traumatic medical emergency excluding out-of-hospital cardiac arrest during the period of 2011-2014.
Results: Of these transported by EMS, 22,075 had any of the AAS-related symptoms, and 330 had an EMS-assessed risk for AAS; of these, 195 received an in-hospital AAS diagnosis.
Hypertrophic cardiomyopathy (HCM) is associated with gene mutations that encode sarcomeric proteins. However, the relationship between genotype and histopathologic findings is unclear. We report on two autopsy cases with advanced HCM associated with deletion of lysine 183 mutation in the cardiac troponin I gene.
View Article and Find Full Text PDFBackground: Although acute coronary syndrome (ACS) and stroke are known to increase after earthquake, few data exist regarding the effect of earthquake on these cardiovascular events in rural areas.
Methods And Results: The Noto Peninsula earthquake with a magnitude of 6.9 occurred at 9:45 a.