Several relatively recently published studies have shown changes in plasma metabolites in various viral diseases such as Zika, Dengue, RSV or SARS-CoV-1. The aim of this study was to analyze the metabolome profile of patients during acute COVID-19 approximately one month after the acute infection and to compare these results with healthy (SARS-CoV-2-negative) controls. The metabolome analysis was performed by NMR spectroscopy from the peripheral blood of patients and controls. The blood samples were collected on 3 different occasions (at admission, during hospitalization and on control visit after discharge from the hospital). When comparing sample groups (based on the date of acquisition) to controls, there is an indicative shift in metabolomics features based on the time passed after the first sample was taken towards controls. Based on the random forest algorithm, there is a strong discriminatory predictive value between controls and different sample groups (AUC equals 1 for controls versus samples taken at admission, Mathew correlation coefficient equals 1). Significant metabolomic changes persist in patients more than a month after acute SARS-CoV-2 infection. The random forest algorithm shows very strong discrimination (almost ideal) when comparing metabolite levels of patients in two various stages of disease and during the recovery period compared to SARS-CoV-2-negative controls.

Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome among all monogenic autoinflammatory diseases. It is characterised by recurrent, self-limited fever attacks of short duration, polyserositis symptoms, and elevated acute-phase reactants. FMF has the highest prevalence in the Eastern Mediterranean region. The first descriptions of FMF cases in Central Europe date back to 2014. The prevalence in the Central European region was previously estimated at 1:465,500 in the paediatric population, with data on adult prevalence lacking. Patients with FMF who fulfilled Eurofever/PRINTO diagnostic criteria were included in the study. Massive parallel sequencing of clinical exome with evaluation of virtual panel for genes associated with inborn errors of immunity and autoinflammatory conditions was used in the vast majority of the patients. Statistical analysis of clinical and laboratory manifestation was performed. The prevalence of FMF in the Slovak population of the present study was 1:48,224 (1:41,348 in children and adolescents), which is significantly higher than expected. The most common variant in our cohort was M694V, present in 52.0% of alleles. Variant K695R was observed in 29.9% which is higher than reported in the other FMF cohorts. Abdominal pain and fever were the most prevalent clinical symptoms, although up to one-third of patients also experienced atypical symptoms such as tonsillitis or cervical lymphadenopathy. This paper provides the first comprehensive analysis of the Slovak National FMF cohort, including epidemiological data, clinical manifestations, and genetic background. Our data could contribute to the general knowledge about FMF characteristics in the underreported regions.