Biomedical Papers-Olomouc最新文献

Aims: Multimorbidity is a growing problem in the general population as well as in patients with rheumatic diseases like systemic lupus erythematosus (SLE). However, patients with SLE have twice the risk of developing multimorbidity than non-SLE patients. The aim of this study was to determine the prevalence of multimorbidity in patients with SLE treated in a university hospital.

Methods: This was a cross-sectional single-centre study and included patients diagnosed and treated with SLE fulfilling the EULAR/ACR 2019 classification criteria. Multimorbidity was defined as the co-occurrence of at least two chronic diseases in an individual. The multimorbidity status was determined by a simple count of associated diseases, as well as using the Rheumatic Disease Comorbidity Index (RDCI) and the Multimorbidity Index (MMI).

Results: A total of 122 patients with SLE were included in the study. Multimorbidity was found in 94% of the participants. The median comorbidity score, as measured by RDCI, was 1.5, while the MMI score was 4. The most prevalent comorbidities as measured by the RDCI were hypertension (37%), other cardiovascular disease (28%), pulmonary disease (18%) and depression (9%). No correlation was found for the RDCI and MMI scores and current disease activity as measured by the SLEDAI-2K scoring system. However, there was a marked increase in the multimorbidity indices with increasing patient age.

Conclusion: This study confirmed the high prevalence of the serious and often overlooked issue of multimorbidity in SLE patients. The RDCI and MMI were used to quantify comorbidities, as indices validated for usage in autoimmune rheumatic diseases, especially SLE. Due to the cross-sectional design of the study, it was not possible to determine the frequency of multimorbidity prior to diagnosis and its evolution with disease duration and activity. Nevertheless, the high prevalence of multimorbidity in this cohort underscores the importance of this issue.

Background and aims: Early diagnosis and management of the ever-increasing global consequences of diabetes is of concern to all nations. The populations of developing countries in particular, account for about 75% of the estimated total number of those afflicted. The Middle East and North Africa Region have around 35.4 (24.3-47.4) million diabetics with a prevalence of around 10.5% in the Middle East. A high proportion of these are undiagnosed. The aim of this study was to assess the awareness of and knowledge about the ocular impacts of diabetes as diabetic retinopathy (DR) in Jordanians by comparing those with and those without diabetes.

Methods: In this cross-sectional study, diabetic and non-diabetic patients attending different clinics at the National Center for Diabetes, Endocrinology and Genetics (NCDEG) were interviewed face-to-face using a questionnaire, to assess the level of knowledge about diabetic retinopathy (DR). The questionnaire was assessed beforehand by ophthalmologists from the School of Medicine, the University of Jordan, in Amman Results: A total of 214 subjects participated in this study (108 males:106 females). The mean age was 58.2 ± 10.6 years; (28 to 88 years) ~70% were diabetic. More than 98% were aware that diabetes can have ocular consequences. Only 17.3% however, had an adequate knowledge of DR. Around 40% did not know the treatment options although 75.7% of the diabetics carried out regular blood sugar checks in <6 months, and 73.4% had their last eye checkups in

Conclusions: The participants in this study had good awareness of DR but their knowledge of this ocular condition and treatment options is limited. Health-education programs and awareness campaigns should be initiated at health and eye care centers. Enrichment of social media and internet websites with evidence-based information by medical professionals are promising options for upgrading knowledge about this common global cause of blindness.

Aims/background: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease caused by pathogenic variants in the UBR1 gene. JBS is usually suspected based on characteristic anomalies, but only genetic testing provides a definitive diagnosis. Since most variants are inherited from the parents, we aimed to identify the causal variants in a Czech proband with clinically suspected JBS and perform segregation analysis.

Methods: A proband with clinically suspected JBS underwent clinical exome sequencing (CES). Sanger sequencing was used for the validation, characterization, and segregation of variants in the family. The variants were also characterized using quantitative real-time PCR (qPCR) and in silico analysis.

Results: Using CES in the proband, we identified two novel causal variants in the UBR1 gene, c.3482A>C and c.3509+6T>C. Although the variants were found in trans, neither was detected in the parents. Sanger sequencing of the cDNA revealed that the novel variant c.3509+6T>C caused activation of the non-canonical GC donor splice site. The inclusion of 70 bp of the intronic sequence generated a frameshift and a premature termination codon leading to nonsense-mediated decay, as detected by qPCR. In silico protein structural analysis showed that the novel missense variant c.3482A>C in the zinc-stabilized domain RING-H2 altered a highly conserved zinc-coordinating histidine by proline.

Conclusion: To the best of our knowledge, we report the first molecular confirmation of JBS in the Czech Republic and the first identification of two de novo causal variants in two alleles. Our findings also expand the spectrum of pathogenic variants in the UBR1 gene.

Prostate cancer is the most frequently diagnosed malignant tumour in men worldwide. To treat this condition, prognostic markers to distinguish indolent from aggressive disease, and biomarkers for metastatic forms are needed. From a pathologist's perspective, despite the plethora of emerging biomarkers, none to date has made its way into clinical practice. The need for prognostic and predictive markers following histological evaluation remains. This overview of some putative immunohistochemical and genetic markers reveals the pitfalls of biomarker research, notably verifiability, validity and interlaboratory comparison. Meta-analyses and extensive cooperation between pathology departments are a sine qua non. Codes of Best Practice such as the REMARK guidelines have been advocated as a path forward. Currently, the most widely used and validated prognostic marker remains the Gleason score. Ki67 along with PTEN are the most promising prognostic markers.

Background: The tumor microenvironment is a significant mediator enabling tumor growth and progression. Tumor-infiltrating lymphocytes (TILs) are an important component of this but tumor cells develop mechanisms by which they can escape the action of the immune system. Immunosuppressive mechanisms cooperate with each other and involve cells of the immune system, the tumor microenvironment itself, chemokines and cytokines. In this study, we examined the FOXP3+, IL-35+, and PD-L1+ lymphocytes in tumor tissues as they are contributing to immunosuppression in some tumors, including melanoma. Such cells are also associated with tumor progression, early metastasis, and prognosis.

Methods and results: In this study, 95 cutaneous melanomas and 25 melanocytic nevi as a control group were examined by immunohistochemistry for FOXP3+, IL-35+, and PD-L1+ lymphocytes. Melanomas were divided into four groups according to the TNM classification: pT1 (35), pT2 (21), pT3 (21), and pT4 (18). PD-L1+ lymphocytes were enriched in pT3- and pT4-stage melanomas, especially in the periphery of the lesions (P<0.001). The number of FOXP3+ lymphocytes was positively correlated with the stage of the disease, especially in the center of the tumors (P<0.001). Likewise, IL-35+ lymphocytes (P<0.001) were enriched with the stage of the tumor.

Conclusion: This article demonstrates that the immunosuppressive environment develops in proportion to the stage of the melanoma. The most significant changes are found at the tumor periphery, confirming the heterogeneity of the tumor stroma which is more pronounced in more advanced tumors and which may contribute to the greater aggressiveness in these peripheral zones.

Traumatic brain injury (TBI) has long-term consequences, including neurodegenerative disease risk. Current diagnostic tools are limited in detecting subtle brain damage. This review explores emerging biomarkers for TBI, including those related to neuronal injury, inflammation, EVs, and ncRNAs, evaluating their potential to predict clinical outcomes like mortality, recovery, and cognitive impairment. It addresses challenges and opportunities for implementing biomarkers in clinical practice, aiming to improve TBI diagnosis, prognosis, and treatment.

Objectives: Postpartum haemorrhage is the most common cause of mortality among women after childbirth. Therefore, this work aims to highlight the possibility of endovascular treatment of postpartum haemorrhage due to remnants in patients with placenta accreta spectrum disorders (PAS disorders) using selective UAE after failure of the standard management. This procedure is a relatively safe and technically nondemanding, with a low risk of recurrent vaginal bleeding.

Materials and methods: This article presents an evaluation of the results of eight patients (age between 19-39 years) who underwent selective transarterial embolisation of uterine arteries from January 2022 to August 2023 at the angio-interventional department of our university hospital center. Based on a multidisciplinary consensus of sonographically detected residues of placenta accreta with typical hypervascularisation, unilateral/bilateral embolisation of the uterine artery was performed with a microcatheter using polyvinyl alcohol embolisation particles, possibly in combination with gelatine foam.

Results: There were no periprocedural complications during embolisation, nor were there episodes of repeated bleeding or other postprocedural complications during the follow-up. Two patients underwent surgical revision of the uterine cavity with extirpation of devascularised residual tissue.

Conclusions: Thus far, this procedure has proven to be a safe and relatively technically nondemanding method supplementing the management of symptomatic patients with PAS disorders with a low risk of rebleeding.

Aims: Patients with atrial fibrillation (AF) may experience other supraventricular tachycardias (SVT) that can trigger AF and cause similar symptoms. The aim of this study was to assess the safety and effectivity of inducing SVT in patients undergoing catheter ablation (CA) for AF.

Methods: In 61 patients with paroxysmal AF undergoing CA between January 2022 and March 2023, an electrophysiological study was performed after pulmonary vein isolation (PVI) to induce SVT. Induced arrhythmias were mapped and ablated. All patients were followed up at 3, 6, and 12 months after the procedure; seven-day ECG Holter monitoring was carried out 6 and 12 months after the procedure.

Results: In 24 patients (39%) an SVT was induced during the stimulation protocol. There was no significant difference in procedure time (P=0.408) or fluoroscopy dose (P=0.458) between patients with and without inducible arrhythmia. Further, none of the echocardiographic variables such as left atrial volume index (LAVI) (P=0.936), left ventricular ejection fraction (LVEF) (P=0.586), or right atrial (RA) area (P=0.716), differed significantly in these subgroups. Age was a significant factor in patients with arrhythmia inducibility compared with those without (64.5 ± 7.6 and 58.2 ± 10.5, P=0.04).

Conclusion: SVT inducibility after successful PVI was 39%. Ablation of nonclinical arrhythmia is safe and did not prolong the total procedure or fluoroscopy time.

Backround and aims: Early evaluation of cardiac remodeling may be useful in predicting heart failure in patients with arterial hypertension. The identification of biomarkers as useful clinical tools in this regard is ongoing. The aim of this study was to evaluate the association of selected cardiac biomarkers levels with parameters of cardiac structure and function in patients with arterial hypertension.

Patients and methods: Included in the study were patients with arterial hypertension with normal left ventricular ejection fraction (LV EF) and absence of signs of heart failure. The levels of selected biomarkers: NT-proBNP, sST2, Galectin-3, GDF-15, Cystatin C, TIMP-1 and ceruloplasmin were measured and assessed together with other biochemical and echocardiographic parameters.

Results: A total of 92 patients (61% men) mean age 61.5 years were included. Mean LV EF was 64.7% and mean LV mass index was 91.7 g/m2. NT-proBNP level correlated significantly with the parameters of LV diastolic function: velocity of E wave (r=0.377, P<0.002), and with E/A ratio, (r=0.455, P<0.0001), with E lat (r=-0.354, P=0.006), E/E' ratio, r=0.393, P<0.002, with ePAP (r=0.390, P=0.014), and with age (r=0.384, P<0.0001). Statistically significant correlations for GDF-15 were as follows: with age (r=0.426, P<0.0001) and left atrial diameter (LA) (r=0.401, P<0.0001), for Cystatin C there are statistically significant correlation with age (r=0.288, P=0.006) and LA (r=0.329, P=0.004). Only sST2 level correlated significantly with parameters of cardiac structure: with LV mass (r=0.290, P<0.01) and LV mass index (r=0.307, P=0.012) and with posterior wall thickness PW (r=0.380, P<0.001). No other observed variables including Galectin-3 and TIMP-1, correlated significantly with age or echocardiographic variables. In a comparison of patients with and without left ventricular hypertrophy, statistically significant differences were found only in LA (P<0.0001) and sST2 (P=0.004). In a multivariate logistic regression, sST2 and TIMP were independent predictors of left ventricular hypertrophy.

Conclusion: NT-proBNP level as a biomarker of cardiac remodeling correlated with parameters of LV diastolic function in patients with arterial hypertension. Soluble ST2 correlated with parameters of cardiac structure. Biomarkers sST2 and TIMP-1 were associated with left ventricular hypertrophy.

Background: Gamma-glutamyltransferase (GGT) is a well-known laboratory biomarker. In spite of high concentration and the possible biomedical importance of estimating GGT in human seminal plasma (hSP), it has not been widely explored in reproductive physiology. This study aimed to complement existing data on its diversity, previously obtained on seminal extracellular vesicles, by analyzing matched soluble fraction of hSP. The GGT-associated patterns of selected glycoproteins were analyzed in order to establish an adjunct referent parameter for differentiation between known high molecular mass forms of GGT. Getting insight into distinct GGT-associated glycoprotein patterns should contribute to define them together as possible multimarkers.

Methods: GGT forms in soluble, membrane-free-fraction isolated form hSP of normozoospermic men were analyzed using gel filtration and lectin blotting using WGA (wheat germ agglutinin) and Con A (concanavalin A).

Results: Widely distributed GGT (with two to three partially resolved peaks), which may correspond to high molecular mass aggregates, were detected. GGT-associated patterns of selected glycoproteins (at position of big, medium, and small-GGT) all comprised high molecular mass WGA-reactive smears, but differed in the presence of Con A-reactive glycans, as well as mucin-associated antigens CA19-9 and CA125.

Conclusions: GGT contributes to several molecular patterns that differ between the soluble and extracellular vesicle fractions of hSP. Their glycobiochemical heterogeneity is due to difference in the presence of distinct sialylated and mannosylated glycans. Moreover, GGT-associated glycoprotein patterns differentiate between high molecular mass forms of GGT in the soluble fraction of hSP. They hold promise as possible targets for increasing biomarker potential of GGT.