Biomedical Papers-Olomouc最新文献

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.

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.

Background: The aim of this study was to evaluate the significance of testing the gain of chromosome 8 and the gain of chromosome 6 as prognostic markers in histopathological samples of enucleated eyes in with uveal melanoma.

Methods: This is a retrospective study of 54 enucleated eyes. The status of chromosomes 3, 8 and 6 was tested by CISH, and FISH was used in a few samples. A follow-up for the detection of metastases was conducted in all patients. The statistical significance of chromosomal abnormalities as a prognostic factor for the development of metastases was determined.

Results: The study group consists of 54 patients (average age 63 years), 28 men (51.9%) Monosomy 3 together with gain of chromosome 8 was found in 10 samples (18.5%). Both chromosomal abnormalities were detected in 6 (11%) patients. No chromosomal abnormality in 3 or 8 was detected in 21 (38.9%) patients. Abnormalities of chromosome 6 were present in 6 (11%) patients. Progression free survival after 5 years was 33.3% (95% CI 0.0; 83.3) in these patients.

Conclusions: Our findings indicate a correlation between progression-free survival and the presence of changes in chromosome 3 and e 8 in uveal melanomas. The results underline the necessity of testing for both chromosomal aberrations.

Introduction: Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. The aim of this study was to characterize the genetic background and the clinical manifestations of congenital fibrinogen disorders in the patients from Slovakia registered at the National Haemophilia Centre.

Materials and methods: Results of genetic analysis of the fibrinogen genes FGA, FGB and FGG using polymerase chain reaction followed by direct sequencing were evaluated in 36 patients.

Results: Molecular-genetic analysis revealed six novel variants - FGA c.923_968dup p.(Gly324Lysfs*44) and FGG c.1105C>T p.(His369Tyr) were identified in CD patients. In CH patients, in the FGG gene c.8G>A p.(Trp3*), c.823G>T p.(Glu275*) and c.323C>A p.(Ala108Asp) variants were detected. In the FGB gene c.1427C>T p.(Ser476Leu) was identified.

Conclusion: This study is a positive contribution towards expanding knowledge about genetic variants in patients with congenital fibrinogen disorders.

Background: Patients with extensive-stage small-cell lung cancer (ES-SCLC) have a poor prognosis. The standard palliative treatment for four decades has been chemotherapy as a combination of etoposide with carboplatin or cisplatin, and in recent years, immunotherapy in addition.

Aims: To determine whether there is a difference in the efficacy of palliative chemotherapy as cisplatin or carboplatin in combination with etoposide in patients with ES-SCLC in real-world practice in the Czech Republic.

Methods: This was a retrospective analysis of a cohort of 348 patients from the LUCAS project with ES-SCLC. 79 were treated with etoposide plus cisplatin and 265 were treated with etoposide plus carboplatin. Kaplan-Meier curves and the Cox regression model were used for analysis.

Results: No statistically significant difference in median overall survival (mOS) or median progression free survival (mPFS) was found between groups or between patients grouped according to age and performance status (PS) in mOS. The Cox regression result was similar.

Conclusion: This study shows that cisplatin and carboplatin do not differ in efficacy in a given indication, thus when choosing a treatment, the physician should consider the expected toxicity in a particular patient, assessing the patient's general condition and comorbidities.

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.