Journal of internal medicine
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Remnant cholesterol in triglyceride-rich lipoproteins is associated observationally and genetic, causally with increased risk of atherosclerotic cardiovascular disease in healthy individuals. ⋯ In individuals with a diagnosis of myocardial infarction/ischaemic stroke, a lower remnant cholesterol of 0.8 mmol L-1 (32 mg dL-1 ) was estimated to reduce recurrent MACE by 20% in secondary prevention. Our data indicate an unmet medical need for secondary prevention in individuals with high nonfasting remnant cholesterol levels.
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The goal of this study was to characterize a Swedish family with members affected by spinocerebellar ataxia 27 (SCA27), a rare autosomal dominant disease caused by mutations in fibroblast growth factor 14 (FGF14). Despite normal structural neuroimaging, psychiatric manifestations and intellectual disability are part of the SCA27 phenotype raising the need for functional neuroimaging. Here, we used clinical assessments, structural and functional neuroimaging to characterize these new SCA27 patients. Since one patient presents with a psychotic disorder, an exploratory study of markers of schizophrenia associated with GABAergic neurotransmission was performed in fgf14-/- mice, a preclinical model that replicates motor and learning deficits of SCA27. ⋯ This is the second largest SCA27 family identified to date. We provide new clinical and preclinical evidence for a significant psychiatric component in SCA27, strengthening the hypothesis of FGF14 as an important modulator of psychiatric disease.
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Nonalcoholic fatty liver disease (NAFLD) is a rising global disease associated with clinical and economic burdens. ⋯ Of 77.33 million people in the United States have NAFLD with 17.63 million having advanced fibrosis, with lowest prevalence in non-Hispanic Asians and highest in Mexican Americans. A conundrum exists amongst non-Hispanic Blacks who have low NAFLD prevalence but highest prevalence of advanced fibrosis. Awareness of NAFLD was low across all ethnicities. Effort is needed to improve disease awareness whilst addressing NAFLD clinical burden across ethnicities.