[Diagnostic strategies for SARS-CoV-2 infection].

COVID-19 pandemic highlighted the importance of laboratory diagnostics to reduce the spread of SARSCoV-2 and to treat patients with severe coronaviral disease. The situation required a rapid development of molecular and serological tests to enable mass screening, testing of high-risk groups, and establishing epidemiological data. Knowledge of diagnostic methods is continuously evolving, so it is crucial to understand the nature of the tests and to be able to interpret their results.

Analysis of serum homocysteine in the laboratory practice - comparison of the direct chemiluminescence immunoassay and high performance liquid chromatography coupled with fluorescent detection.

Introduction: Effective diagnosis of cardiovascular diseases requires the right tools to be used enabling selective and sensitive analysis of their biomarkers. One of them is homocysteine (Hcy), nowadays determined by immunoassays and chromatographic methods. This study aims to compare the results obtained by direct chemiluminescence immunoassay (CLIA) and high performance liquid chromatography with fluorescent detection (HPLC-FD) using commercial kits.

Myeloperoxidase level and inflammatory markers and lipid and lipoprotein parameters in stable coronary artery disease.

Background: Myeloperoxidase (MPO) impairing endothelial functions. We investigated whether increasing concentration of myeloperoxidase (MPO) and inflammatory markers induce progression and incident acute coronary syndrome (ACS) in stable coronary artery disease (SCAD) patients. Therefore, the concentration of MPO, lipids, lipoproteins (apo(apolipoprotein) AI, apoB, lipoprotein associated phospholipase A2 (LpPLA2) level), inflammatory markers (high sensitivity C-reactive protein (hsCRP), tumor necrosis factor-α (TNF-α), interleukine-6 (IL-6) concentration) were examined.

Levels of renalase and advanced oxidation protein products with regard to catecholamines in haemodialysed patients.

Introduction: The main mediators of the sympathetic nervous system in the effectors part are catecholamines (CA). An increased sympathetic nerve activity observed in chronic kidney disease (CKD), is due to a raised level of CA in plasma. Renalase is a protein secreted by the kidneys, composed of 342 amino acids, which is able to metabolize the circulating CA and possibly play an important role in the regulation of sympathetic tone and blood pressure.

γ-amino butyric acid (GABA) level as an overall survival risk factor in breast cancer.

Introduction: The γ-amino butyric acid (GABA) plays important role in the proliferation and migration of cancer cells. The aim of the study was to evaluate the level of GABA in breast cancer, in relation to clinical and epidemiological data.

Material And Methods: The study was conducted on 89 patients with breast cancer in stage I-II.

Relationship between microRNA-146a expression and plasma renalase levels in hemodialyzed patients.

Background: microRNA (miRNA) belongs to the non-coding RNAs family responsible for the regulation of gene expression. Renalase is a protein composed of 342 amino acids, secreted by the kidneys and possibly plays an important role in the regulation of sympathetic tone and blood pressure. The aim of the present study was to investigate plasma renalase concentration, and explore the relationship between miRNA-146a-5p expression and plasma renalase levels in hemodialyzed patients.

Role of circulating microRNA in hemodialyzed patients.

MicroRNA (miRNA) belongs to the family of non-coding RNAs, which posttranscriptionally regulate gene function. Moreover, accumulating evidence points to an essential role of miRNAs in development and monitoring of kidney disease, though the role of particular miRNAs in patients undergoing hemodialysis is still unclear. This might have consequences.

Fibroblast growth factor 21 - a key player in cardiovascular disorders?

Fibroblast growth factor 21 (FGF21) is a newly discovered adipokine, synthesized by several organs, mostly by the liver, which was introduced as a potent metabolic regulator and insulin-sensitizing factor. Numerous animal studies have demonstrated that FGF21 improves glucose and lipids metabolism and exerts anti-inflammatory effects. However, data obtained from human studies have shown contradictory results, in which circulating FGF21 levels were often elevated in obesity, dyslipidemia, type 2 diabetes (DM2) and other conditions connected with insulin resistance.

Polycystic ovary syndrome: clinical implication in perimenopause.

Polycystic ovary syndrome (PCOS), a hyperandrogenic disorder, is the commonest endocrinopathy in premenopausal women. This syndrome is associated with fertility problems, clinical manifestations of hyperandrogenism and metabolic disturbances, particularly insulin resistance and obesity. There is a great body of evidence that patients with PCOS present multiple cardiovascular risk factors and cluster components of metabolic syndrome from early ages.

Plasma and erythrocyte relationship of catecholamines in hemodialysis patients.

The function of the autonomic nervous system is based on reciprocal interaction between the sympathetic and parasympathetic parts, most frequently in the form of antagonistic action on target organs. The main mediators of the sympathetic nervous system in the effectors part are catecholamines (CA), which are involved in various physiological processes. Moreover, CA also has a profound effect on the kidneys, being factors that impact on renal haemodynamics, and have been reported to be altered in pathological disorders, e.

Relationship between renalase and N-terminal pro-B-type natriuretic peptide (NT pro-BNP) in haemodialysis patients.

Introduction: Our knowledge in the field of cause of deaths in dialysis patients is rapidly expanding, yet we still do not fully understand how renalase regulates the processes of cardiovascular disease developing in end-stage renal disease. Increased sympathetic nerve activity observed in chronic kidney diseases due to raised catecholamines in plasma results from the absence of renalase. Renalase synthesized and secreted by the kidneys participate in the regulation of sympathetic tone and blood pressure.

Serum fibroblast growth factor 21 is predictive of combined cardiovascular morbidity and mortality in patients with type 2 diabetes at a relatively short-term follow-up.

Aims: We hypothesised that serum fibroblast growth factor 21 (FGF-21), a novel adipokine with postulated insulin-sensitizing effects, may be predictive of cardiovascular (CV) events in patients with type 2 diabetes (DM2) at a relatively short-term follow-up.

Methods: Serum FGF-21 levels were assessed in 87 DM2 patients, aged 57-66 years, with the median duration of diabetes of 10 years, who were referred to the Department of Endocrinology for routine annual metabolic assessment. During a follow-up of 24 months, overall mortality, CV mortality and CV nonfatal events were registered.

Association between lipids, lipoproteins composition of HDL particles and triglyceride-rich lipoproteins, and LCAT and CETP activity in post-renal transplant patients.

High-density lipoprotein (HDL) remodeling within the plasma compartment and the association between lecithin-cholesterol acyltransferase (LCAT) and cholesterol ester transfer protein (CETP) activity, and lipid, lipoprotein concentrations and composition were investigated. The aim was to examine the high sensitivity of C-reactive protein (hsCRP), lipid, apolipoprotein B (apoB), apoAI, total apoAII, apoAIInonB, apoB-containing apoAII (apoB:AII), total apoCIII, apoCIIInonB, apoB-containing apoCIII (apoB:CIII) concentration and LCAT and CETP activity to gain an insight into the association between them and LCAT and CETP, 57 post-renal transplant (Tx) patients with and without statin therapy and in 15 healthy subjects. Tx patients had moderate hypertriglyceridemia, hypercholesterolemia, and dyslipoproteinemia, disturbed triglyceride-rich lipoproteins (TRLs) and HDL composition, decreased LCAT, and slightly increased hsCRP but no CETP activity.

Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis.

Numerous families exhibiting both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) have been described, and although many of these have been shown to harbour a repeat expansion in C9ORF72, several C9ORF72-negative FTD-ALS families remain. We performed neuropathological and genetic analysis of a large European Australian kindred (Aus-12) with autosomal dominant inheritance of dementia and/or ALS. Affected Aus-12 members developed either ALS or dementia; some of those with dementia also had ALS and/or extrapyramidal features.

Level of glycation gap in a healthy subject.

Introduction: The discordance between glycated hemoglobin (HbA(1C)) and fructosamine (FA) estimations in the assessment of glycemia is often encountered. A number of mechanisms might explain such discordance, but whether or not they are consistent is uncertain. Nevertheless, the fact that there is a discrepancy in HbA(1C) and mean blood glucose cannot be ignored in the monitoring of glycemic control.

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) shows clinical and pathological overlap with frontotemporal dementia that includes the presence of hallmark ubiquitinated inclusions in affected neurons. Mutations in UBQLN2, which encodes ubiquilin 2, were recently identified in X-linked juvenile and adult-onset ALS and ALS/dementia. As part of an established exome sequencing program to identify disease genes in familial ALS, we identified a novel missense UBQLN2 mutation (c.

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been connected to ALS. These three proteins share several features, including the presence of a bioinformatics-predicted prion domain, aggregation-prone nature in vitro and in vivo and toxic effects when expressed in multiple model systems.

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis.

Phenotypic variation in amyotrophic lateral sclerosis (ALS) is common, and one atypical form is the flail arm variant (FAV). Some classic ALS patients carry TARDBP mutations, and so we sought to establish whether TARDBP mutations are also present in the FAV of ALS. Mutation analysis of TARDBP, the gene encoding TDP-43, was performed in cohorts of classic and FAV ALS patients.

[Evaluation of metabolic control in patients with type 2 diabetes].

Introduction: The most objective way of evaluating metabolic control in diabetic patients is using reliable laboratory tests. The laboratory examinations show the effectiveness of the management and compliance. The aim of the study was to observe metabolic control in patients with type 2 diabetes mellitus with the use of routinely available laboratory tests.

Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the progressive loss of motor neurons in the motor cortex, brain stem and spinal cord. Mutations in the valosin-containing protein gene (VCP) were recently described in ALS families. Some of these families included diagnoses of other clinical features including frontotemporal dementia, Paget's disease, inclusion body myopathy, Parkinsonism and limb weakness.

A yeast functional screen predicts new candidate ALS disease genes.

Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains, cause some forms of ALS. There are at least 213 human proteins harboring RNA recognition motifs, including FUS and TDP-43, raising the possibility that additional RNA-binding proteins might contribute to ALS pathogenesis.

Mutation analysis of the optineurin gene in familial amyotrophic lateral sclerosis.

Mutations in the optineurin gene (OPTN) have been reported in rare familial and sporadic amyotrophic lateral sclerosis (ALS) cases. It is yet to be established whether mutations segregate with dominantly inherited familial ALS. We therefore performed mutation analysis in a cohort of 96 autosomal dominant ALS families.

Association between moderately oxidized low-density lipoprotein and high-density lipoprotein particle subclass distribution in hemodialyzed and post-renal transplant patients.

Disturbances in the metabolism of lipoprotein profiles and oxidative stress in hemodialyzed (HD) and post-renal transplant (Tx) patients are proatherogenic, but elevated concentrations of plasma high-density lipoprotein (HDL) reduce the risk of cardiovascular disease. We investigated the concentrations of lipid, lipoprotein, HDL particle, oxidized low-density lipoprotein (ox-LDL) and anti-ox-LDL, and paraoxonase-1 (PON-1) activity in HD (n=33) and Tx (n=71) patients who were non-smokers without active inflammatory disease, liver disease, diabetes, or malignancy. HD patients had moderate hypertriglyceridemia, normocholesterolemia, low HDL-C, apolipoprotein A-I (apoA-I) and HDL particle concentrations as well as PON-1 activity, and increased ox-LDL and anti-ox-LDL levels.

Evaluation of concentrations of FGF-21 - a new adipocytokine in type 2 diabetes.

Introduction: Fibroblast growth factor 21 FGF-21 is a newly discovered adipocytokine which may play a vital role in improvement of insulin sensitivity and pathogenesis of type 2 diabetes. The aim of the study was to assess FGF-21 concentrations in the serum of patients with type 2 diabetes, in comparison to a control group, and evaluate the possible relationships between the studied cytokine and selected clinical and biochemical parameters

Material And Methods: The study was conducted in 64 patients with type 2 diabetes, 28 women and 36 men aged 47-70 (median age 61.5), with a median duration of diabetes of 8.