European journal of clinical investigation
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We investigated the long-term outcomes of mitral valve replacement (MVR) in native mitral valve infective endocarditis (IE). ⋯ Patients with native mitral valve IE have a higher risk of death and major bleeding after MVR than matched patients without IE. Results highlight the importance of complication prevention in these patients.
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Eur. J. Clin. Invest. · Sep 2021
Acetyl-CoA-driven respiration in frozen muscle contributes to the diagnosis of mitochondrial disease.
Freezing human biopsies is common in clinical practice for storage. However, this technique disrupts mitochondrial membranes, hampering further analyses of respiratory function. To contribute to laboratorial diagnosis of mitochondrial diseases, this study sought to develop a respirometry approach using O2k (Oroboros Ins.) to measure the whole electron transport chain (ETC) activity in homogenates of frozen skeletal muscle biopsies. ⋯ We present preliminary data on a simple, low cost and reliable procedure to measure respiratory function in whole homogenates of frozen skeletal muscle biopsies, contributing to diagnosis of mitochondrial diseases in humans.
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Eur. J. Clin. Invest. · Sep 2021
Characteristics of gestational diabetes subtypes classified by oral glucose tolerance test values.
In clinical practice, gestational diabetes mellitus (GDM) is treated as a homogenous disease but emerging evidence suggests that the diagnosis of GDM possibly comprises different metabolic entities. In this study, we aimed to assess early pregnancy characteristics of gestational diabetes mellitus entities classified according to the presence of fasting and/or post-load hyperglycaemia in the diagnostic oral glucose tolerance test performed at mid-gestation. ⋯ Women with fasting hyperglycaemia, especially those with combined hyperglycaemia, showed an unfavourable metabolic phenotype already at early gestation. Therefore, categorization based on abnormal oral glucose tolerance test values provides a practicable basis for clinical risk stratification.
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Eur. J. Clin. Invest. · Sep 2021
Ethnic similarities in genetic polymorphisms associated with atrial fibrillation: Far East Asian vs European populations.
In European ancestry, 111 genetic loci were identified as associated with atrial fibrillation (AF). We explored the reproducibility of those single nucleotide polymorphisms (SNPs) in a genome-wide association study (GWAS) meta-analysis of Far East Asian populations. ⋯ We newly replicated 19 AF-associated genetic loci in the European descent among the Far East Asian populations. It highlights the extensive sharing of AF genetic risks across Far East Asian populations.
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Eur. J. Clin. Invest. · Sep 2021
Genomic correlates of response and resistance to immune checkpoint inhibitors in carcinomas of unknown primary.
Cancers of unknown primary (CUP) are highly aggressive tumours with limited molecular characterization. These tumours can be particularly sensitive to immune checkpoint inhibitors (ICI) by mounting a seemingly more effective anti-tumour immune response. Unlike other tumour lineages, the biological basis and clinical efficacy of ICI in CUP remain largely unknown. ⋯ A tumour mutation burden >10 mutations per megabase can provide a potential genomic correlate of response to ICI in patients with CUP. Further research is warranted to validate these findings.