Biomedical Papers-Olomouc最新文献

Background: Neurogenic tumors are the third most common tumors occurring within the mediastinum. Predominantly completely asymptomatic, they are most often found in the posterior mediastinum, although they may also be located, albeit rarely, in the middle mediastinum. Thus, in the cases of tumors localized in the middle mediastinum, schwannomas of the phrenic nerve must always be considered.

Case report: In this case, a male patient presented with a tumor of the middle mediastinum. PET/CT scan determined that it was a circumscribed tumor without signs of dissemination. However, due to the tumor's location, a preoperative biopsy of the tumor was not possible. Therefore, the patient underwent videothoracoscopic extirpation of the tumor, including the necessary resection of the phrenic nerve that passed through the centre of the tumor. Subsequent histological analysis definitively confirmed a schwannoma with low proliferative activity.

Conclusions: Differential diagnosis of mediastinal tumours is very difficult; however, in the case of circumscribed tumours not invading the surrounding tissues, proceeding to surgical revision, with the complete removal of the tumour, is possible, even without determining the histological nature. Minimally invasive surgical techniques dominate the treatment of neurogenic tumors of the mediastinum; they are associated with minimal complications and allow a rapid return of the patient to their normal activities.

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 and aim: Sinonasal tumors are a rare and heterogeneous group of malignant tumors with different histopathological characteristics and clinical presentation. These tumors are usually treated through surgery. The aim of this study is to present our results of surgical therapy in patients with an advanced sinonasal tumor.

Methods: This retrospective study included patients with an advanced sinonasal tumor who were surgically treated. The surgical technique combined both a frontal transbasal approach together with an endoscopic endonasal approach. The parameters used for evaluation were the histological type of tumor, the radicality of resection (complete vs. incomplete), the frequency of recurrence, the surgical and postoperative complications, the type of subsequent oncological therapy and the overall survival.

Results: The group consisted of ten patients seven were men and three were women. Complete resection (defined as R0) was achieved in 8 (80%) of the cases, subcomplete resection was achieved in 2 (20%) of the cases. The overall survival period was 28.7 months (95% confidence interval 15.9-41.6).

Conclusion: The combination of the frontal transbasal approach with the endoscopic endonasal approach is a suitable surgical strategy that enables easier achievement of complete tumor resection, reconstruction of the anterior skull base and reduces the need for extensive surgical approaches.

Introduction: The article is one of the very first autopsy reports worldwide, which associates COVID-19 infection and pulmonary fat embolism.

Aims: To point to a crucial connection between a severe acute respiratory syndrome caused by coronavirus 2 (SARS-CoV-2) infection and pulmonary fat embolism as one of the possible major mechanisms of severe COVID-19 symptoms.

Methods: Lung, brain and kidney tissues examination of 16 full human autopsy cases. All deceased suffered from COVID-19 infection, none of them was admitted to hospital prior to death, immediate causes of death vary. Autopsies accompanied by microbiological examination and histological examination using Oil Red O staining were performed. Consequently, we have implemented a control cohort consisting of 16 deceased with no presence of pulmonary infection and various immediate causes of death.

Results: Of the 16 autopsy cases, 11 (68.8%) were males and 5 (31.3%) females, with overall mean age 68.1 (39-86) years. Causes of death of studied subjects were natural, mostly from respiratory failure (in 12 cases, 75%). Cardiopulmonary resuscitation was performed in 7 cases (43.8%). None of dissected persons had larger signs of body trauma. Pulmonary fat embolism was found in 11 cases (68.8%), which generalised to kidneys in 8 patients (50% of all cases, 72.3% of cases with pulmonary fat embolism) and to brain tissue in 1 case.

Conclusion: We demonstrated a reasonable relation between a COVID-19 disease and a variously severe fat embolism, severity of which does not directly correlate with body weight. Further investigation or even change of medical treatment needs to be considered in patients with COVID-19.

Adrenal insufficiency (AI) manifests as a clinical syndrome arising from either the direct impairment of adrenal glands, leading to primary AI characterized by deficiencies in glucocorticoids and mineralocorticoids, or adrenal cortex atrophy due to diminished adrenocorticotropic hormone (ACTH) stimulation, a consequence of hypothalamic and/or pituitary damage, resulting in secondary AI. The diagnosis of AI is based on clinical assessment and biochemical tests, including basal hormone level measurements and stimulation tests. In evaluating the results of laboratory tests, it is necessary to consider factors that may influence both pre-analytical and analytical phases, as well as the chosen methodology. Correct diagnosis of adrenal insufficiency and timely initiation of suitable replacement therapy are paramount. These steps are crucial not only for managing the condition but also to avert potentially life-threatening adrenal crises.

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.

Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) are crucial diagnostic modalities that require patients to remain immobile for extended periods, with anesthesia sometimes used for comfort and image quality enhancement. The study compares dexmedetomidine and propofol in reducing recovery time and sedation onset in pediatric and elderly patients undergoing CT and MRI procedures. A meta-analysis of fifteen studies assessing recovery time, sedation onset, and failed sedation between dexmedetomidine and propofol in pediatric and elderly patients during CT and MRI was conducted. The study indicated that the administration of anaesthesia markedly improved patient compliance and reduced motion artefacts in both CT and MRI (P<0.00001, I²=94%). The meta-analysis indicated that the mean difference (MD) in the onset of sedation was significantly faster in the control group (P<0.00001, I²=96%). The study reveals that dexmedetomidine and propofol anesthesia can improve patient image quality during CT and MRI procedures by reducing motion artefacts. Dexmedetomidine sedated people more quickly than propofol, but no significant differences in sedation duration were observed.

Background and aims: Neurodegenerative disorders affecting the brain and spinal cord are caused by a large number of factors. More recently, imbalances in gut microbiota are found to be one factor linked directly to neurological dysfunction. Probiotics prevent cognitive decline. For the first time, the effect of probiotics was assessed by monitoring the concentrations of the neurodegeneration biomarker neurofilament light chains (NfL) in a well-defined group of community-dwelling individuals. The aim of this study was to determine whether administration of our new probiotics could reduce NfL concentrations.

Methods: The serum NfL concentrations were measured in total of 190 serum samples of 85 older community-dwelling individuals. The participants were randomly divided into two groups: the PROPLA group and the PLAPRO group. Individuals in the PROPLA group started with a three-month use of probiotics and continued with a three-month use of placebo while the order was reversed in the PLAPRO group. The participants underwent detailed examinations at three time points: at baseline, in three and six months. The serum NfL concentrations were determined using ultrasensitive single-molecule array (SIMOA) assay.

Results: Longitudinal comparisons of NfL concentrations between samplings at different time points in the PROPLA and PLAPRO groups showed no statistically significant differences. Baseline NfL concentrations at the beginning of the study and in the succeeding samplings were not significantly different for the two groups in cross-sectional comparisons.

Conclusions: Serum NfL concentrations were not influenced by the three-month use of probiotics.

Purpose: The aim of this study was to define the thickness of the retinal nerve fiber layer (RNFL) in the peripapillary region of the retina after adjusting for the effect of vessel density (VD) in patients with pathological intraocular pressure (IOP).

Patients and methods: 69 patients (122 eyes) with IOP >21 mmHg (range 21-36 mmHg, mean 23.65±2.70 mmHg). 32 were men (average age 55±13 years) and 37 were women (average age 52±14 years). IOP was measured using the Ocular Response Analyser (ORA). VD and RNFL were measured peripapillary by OCT (Avanti RTVue XR) in eight segments: Inferior Temporal - IT (1); Temporal Inferior - TI (2); Temporal Superior - TS (3); Superior Temporal - ST (4); Superior Nasal - SN (5); Nasal Superior - NS (6); Nasal Inferior - NI (7) and Inferior Nasal - IN (8). The VD value was subtracted from the total RNFL value.

Results: A corrected value for the RNFLc nerve fiber layer thickness (RNFLc) was introduced to account for VD across the RNFL volume in each segment. Person's correlation coefficient (r) was used to assess the correlation between IOP and RNFLc. The strongest correlations in RNFLc were in segments 5 (r=-0.32, P=0.002) and 8 (r=-0.21, P=0.037).

Conclusion: The greatest changes in RNFLc (RNFL minus VD) were in eyes with pathological IOP in segments 5 and 8, the location of the retinal ganglion cell magnocellular fibers. That is, when the thickness of the nerve fiber layer was reduced by correcting for vessel density, there was a significant correlation in segments 5 (r =-0.32, P<0.05) and 8 (r =-0.21, P<0.05) with intraocular pressure. The results suggest use of a corrected RNFL from VD value as more appropriate for detecting early changes in glaucoma.

Background: Left ventricular thrombus (LVT) formation is one of the well-known and serious complications of acute myocardial infarction (AMI) due to the risk of systemic arterial embolization (SE). To diagnose LVT, echocardiography (TTE) is used. Late gadolinium-enhanced cardiovascular magnetic resonance (DE-CMR) is the gold standard for diagnosing LVT.

Objectives: The aim of this observational study was to determine the role of transthoracic echocardiography and cardiac markers in predicting the occurrence of LVT compared with a reference cardiac imaging (DE-CMR) and to determine the risk of systemic embolization to the CNS using brain MRA.

Methods: Seventy patients after MI managed by percutaneous coronary intervention (localization: 92.9% anterior wall, 7% other; median age 58.7 years) were initially examined by transthoracic echocardiography (TTE, n=69) with a focus on LVT detection. Patients were then referred for DE-CMR (n=55). Laboratory determination of cardiac markers (Troponin T and NTproBNP) was carried out in all. Brain MRA was performed 1 year apart (n=51).

Results: The prevalence of LVT detected by echocardiography: (n=11/69, i.e. 15.9%); by DE-CMR: (n=9/55, i.e. 16.7%). Statistically significant parameters to predict the occurrence of LVT after AMI (cut off value): (a) detected by echocardiography: anamnestic data - delay (≥ 5 hours), echocardiographic parameters - left atrial volume index (LAVI≥ 32 mL/m²), LV EF Simpson biplane and estimated (≤ 42%), tissue Doppler determination of septal A wave velocity (≤ 7.5cm/s); (b) detected by DE-CMR: anamnestic data - delay (≥ 13 hours), DE-CMR parameters - left ventricular end-diastolic diameter (≥ 54mm). The value of cardiac markers (Troponin T and NTproBNP in ng/L) in LVT detected by echocardiography did not reach statistical significance. In LVT detected by DE-CMR, NTproBNP was statistically significantly increased at 1 month after AMI onset (no optimal cut-off value could be determined). There was no statistically significant association between the LVT detection (both modalities) and the occurrence of clinically manifest and silent cardioembolic events.

Conclusion: Our study confirmed a relatively high prevalence of LVT in the high-risk group of patients with anterior wall STEMI. Due to the low prevalence of thromboembolic complications, no significant association between the LVT detection and the occurrence of a cardioembolic event was demonstrated.