BACKGROUND: Myelodysplastic neoplasms (MDS) are heterogeneous hematopoietic disorders characterized by ineffective hematopoiesis and genome instability. Mobilization of transposable elements (TEs) is an important source of genome instability leading to oncogenesis, whereas small PIWI-interacting RNAs (piRNAs) act as cellular suppressors of TEs. However, the roles of TEs and piRNAs in MDS remain unclear. METHODS: In this study, we examined TE and piRNA expression through parallel RNA and small RNA sequencing of CD34+ hematopoietic stem cells from MDS patients. RESULTS: Comparative analysis of TE and piRNA expression between MDS and control samples revealed several significantly dysregulated molecules. However, significant differences were observed between lower-risk MDS (LR-MDS) and higher-risk MDS (HR-MDS) samples. In HR-MDS, we found an inverse correlation between decreased TE levels and increased piRNA expression and these TE and piRNA levels were significantly associated with patient outcomes. Importantly, the upregulation of PIWIL2, which encodes a key factor in the piRNA pathway, independently predicted poor prognosis in MDS patients, underscoring its potential as a valuable disease marker. Furthermore, pathway analysis of RNA sequencing data revealed that dysregulation of the TE‒piRNA axis is linked to the suppression of processes related to energy metabolism, the cell cycle, and the immune response, suggesting that these disruptions significantly affect cellular activity. CONCLUSIONS: Our findings demonstrate the parallel dysregulation of TEs and piRNAs in HR-MDS patients, highlighting their potential role in MDS progression and indicating that the PIWIL2 level is a promising molecular marker for prognosis.
- Klíčová slova
- Bioinformatics, Biomarkers, Myelodysplastic neoplasms, Next-generation sequencing, Transposable elements, piRNA,
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Percutaneous rhizotomy of the Gasserian ganglion is a well-established intervention for patients suffering from refractory trigeminal pain, not amenable to pharmacological management or microvascular decompression. Traditionally conducted under fluoroscopic guidance using Hartel's technique, this study investigates a modified approach employing low-dose CT guidance to achieve maximal procedural precision and safety with the emphasis on minimizing radiation exposure. METHODS: A retrospective analysis of patients undergoing percutaneous rhizotomy of the Gasserian ganglion at our institution was undertaken. Procedures were divided into fluoroscopy and CT-guided foramen ovale (FO) cannulation cohorts. Radiation doses were assessed, excluding cases with incomplete data. The study included 32 procedures in the fluoroscopy group and 30 in the CT group. RESULTS: In the CT-guided group, the median effective dose was 0.21 mSv. The median number of CT scans per procedure was 4.5, and the median procedure time was 15 min. Successful FO cannulation was achieved in all 30 procedures (100%). In the fluoroscopy group, the median effective dose was 0.022 mSv, and the median procedure time was 15 min. Cannulation of FO was successful in 31 of 32 procedures (96.9%). The only complications in the CT-guided group were three minor cheek hematomas. Immediate pain relief in the CT-guided group was reported in 25 of 30 procedures (83.3%), 22 of 30 (73.3%) provided relief at one month, and 10 of 18 (55.6%) procedures resulting in pain relief at one month continued to provide relief after two years. CONCLUSION: Low-dose CT-guided percutaneous rhizotomy conducted in the radiology suite carries negligible radiation exposure for patients and eliminates it for personnel. This method is fast, simple, precise, and carries a very low risk of complications.
- MeSH
- dávka záření MeSH
- dospělí MeSH
- fluoroskopie metody MeSH
- ganglion trigeminale chirurgie diagnostické zobrazování MeSH
- lidé středního věku MeSH
- lidé MeSH
- neuralgie trigeminu * chirurgie diagnostické zobrazování radioterapie MeSH
- počítačová rentgenová tomografie * metody MeSH
- radiační expozice * prevence a kontrola MeSH
- retrospektivní studie MeSH
- rizotomie * metody MeSH
- senioři MeSH
- výsledek terapie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
BACKGROUND: Surgical site infection (SSI) is the most consistently reported complication of cranioplasty. No material showed a categorical superiority in the incidence of infection. Porous polyethylene (PE) is considered a low risk material regarding SSI. However, the literature data are very limited. Thus, our objective was to verify the assumed low incidence of SSI after PE cranioplasty in patients at high risk of SSI. The primary objective was the infection rate, while secondary objectives were implant exposure, revision and cosmetic results. METHOD: Patients who underwent three-dimensional (3D) personalized PE cranioplasty in the period 2014-2023 were evaluated prospectively. Only patients with an increased risk of SSI, and a satisfactory clinical conditions were included in the study. RESULTS: Thirty procedures were performed in 30 patients. Cranioplasty was performed 23 times after hemispheric decompressive craniectomy, five times after limited size craniotomy and two times after bifrontal decompressive craniectomy. Risk factors for the development of infection were 18 previous SSIs, 16 previous repeated revision surgeries, four intraoperatively opened frontal sinuses and two times radiotherapy. Neither infection nor implant exposure was detected in any patient. All patients were satisfied with the aesthetic result. In two cases, a revision was performed due to postoperative epidural hematoma. CONCLUSIONS: Three-dimensional personalized PE cranioplasty is associated with an extremely low incidence of SSI even in high-risk patients. However, our conclusions can only be confirmed in larger studies.
- Klíčová slova
- Cranioplasty, High-risk patients, Infection, Personalized, Porous polyethylene,
- MeSH
- dekompresní kraniektomie škodlivé účinky metody MeSH
- dospělí MeSH
- infekce chirurgické rány * epidemiologie etiologie MeSH
- kraniotomie škodlivé účinky metody MeSH
- lebka chirurgie MeSH
- lidé středního věku MeSH
- lidé MeSH
- polyethylen MeSH
- poréznost MeSH
- prospektivní studie MeSH
- rizikové faktory MeSH
- senioři MeSH
- zákroky plastické chirurgie * metody škodlivé účinky MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- polyethylen MeSH
INTRODUCTION: Human diving reflex is a well-studied phenomenon. However, very little is known about the possible relationship between augmented diving reflex and autonomic dysfunction. METHODS: We retrospectively studied a group of four swimmers who underwent a diving reflex test as part of the examination due to symptoms related to autonomic dysfunction during swimming. The control group comprised 11 healthy swimmers with no history of these symptoms. A standardized diving reflex test was performed for each athlete in both groups. Hemodynamic profiles, including heart rate, stroke volume, and cardiac output, were recorded. RESULTS: There were no statistically significant differences between the groups in any of the three parameters measured before the test. However, at the end of the test, each parameter (heart rate, stroke volume, and cardiac output) was significantly lower in the swimmers who presented with clinical symptoms related to autonomic dysfunction than in the control group. CONCLUSION: This observation could shed light on autonomic dysfunction as a possible cause of sudden cardiac death in swimming athletes. It also demonstrated that autonomic dysfunction is presented not only by decreased heart rate but also by stroke volume, causing a drop in cardiac output to the level of hemodynamic collapse.
- Klíčová slova
- autonomic dysfunction, bradycardia, diving reflex, hemodynamics, sudden cardiac death, syncope,
- Publikační typ
- časopisecké články MeSH
INTRODUCTION Microvascular anastomosis using interrupted suture is a widely accepted standard technique. Continuous suture is less common due to the presumption that its firmness can negatively affect anastomosis maturation. The purpose of this study was to determine whether the use of continuous suture allows maturation of the microanastomosis site. MATERIAL AND METHODS A rat common carotid artery (CCA) end-to-end microanastomosis model was utilized, with 19 Long-Evans rats in the interrupted sutures group and 13 in the continuous suture group. Immediate blood flow of the operated and contralateral intact CCAs was compared before clamping, at the completion of the anastomosis and after 14 days. Quantitative transit time flowmetry measurement and histological examination were employed. RESULTS Initial blood flow in both intact CCAs was similar across all animals (p = .004). In the interrupted suture group, median anastomosis blood flow was 88.9% of the contralateral CCA blod flow, with a median suture time of 46 minutes. After two weeks, blood flow increased to 96.1%. In the continuous suture group, median anastomosis blood flow was 88.3% of the contralateral CCA blood flow, with a median suture time of 30 minutes. After two weeks, blood flow increased to 100.0%. The reduction in suture time achieved with continuous suture was 34.8% (p < .001). Histological examination confirmed scar maturity. CONCLUSIONS The maturation rates of continuous and interrupted suture microanastomosis were comparable in our study, implying that concerns about the suture restricting maturation may be unwarranted. Additional finding is the potential for a reduction in microanastomosis time when using the continuous suture technique.
- Publikační typ
- časopisecké články MeSH
Mutations in the splicing factor 3b subunit 1 (SF3B1) gene are frequent in myelodysplastic neoplasms (MDS). Because the splicing process is involved in the production of circular RNAs (circRNAs), we investigated the impact of SF3B1 mutations on circRNA processing. Using RNA sequencing, we measured circRNA expression in CD34+ bone marrow MDS cells. We defined circRNAs deregulated in a heterogeneous group of MDS patients and described increased circRNA formation in higher-risk MDS. We showed that the presence of SF3B1 mutations did not affect the global production of circRNAs; however, deregulation of specific circRNAs was observed. Particularly, we demonstrated that strong upregulation of circRNAs processed from the zinc finger E-box binding homeobox 1 (ZEB1) transcription factor; this upregulation was exclusive to SF3B1-mutated patients and was not observed in those with mutations in other splicing factors or other recurrently mutated genes, or with other clinical variables. Furthermore, we focused on the most upregulated ZEB1-circRNA, hsa_circ_0000228, and, by its knockdown, we demonstrated that its expression is related to mitochondrial activity. Using microRNA analyses, we proposed miR-1248 as a direct target of hsa_circ_0000228. To conclude, we demonstrated that mutated SF3B1 leads to deregulation of ZEB1-circRNAs, potentially contributing to the defects in mitochondrial metabolism observed in SF3B1-mutated MDS.
- Klíčová slova
- SF3B1, ZEB1, circular RNA, myelodysplastic neoplasms, splicing,
- MeSH
- akutní myeloidní leukemie * MeSH
- fosfoproteiny genetika MeSH
- kruhová RNA genetika MeSH
- lidé MeSH
- mutace genetika MeSH
- myelodysplastické syndromy * genetika MeSH
- sestřihové faktory genetika MeSH
- transkripční faktory genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- fosfoproteiny MeSH
- kruhová RNA MeSH
- sestřihové faktory MeSH
- SF3B1 protein, human MeSH Prohlížeč
- transkripční faktory MeSH
A 58-year-old patient presented with a severe neurological deficit due to a stroke caused by an occlusion of the left internal carotid artery siphon. Standard treatment failed and neurosurgical consult was delayed. Because of a favorable perfusion imaging finding, microsurgical revascularization via an extra-intracranial bypass (left superficial temporal artery - left middle cerebral artery) was performed 36 hours after the onset of the symptoms. The outcome of the patient was favorable. The authors want to emphasize the need to actively seek patients with a severe neurological deficit and still viable brain tissue. The time window and treatment alternatives are discussed.
- Klíčová slova
- 4D CT angiography, CT perfusion, Carotid artery dissection, Extra-intracranial bypass, Intracranial atherosclerosis, Large vessel occlusion,
- MeSH
- arteria carotis interna chirurgie MeSH
- cévní mozková příhoda * diagnostické zobrazování etiologie chirurgie MeSH
- ischemická cévní mozková příhoda * komplikace MeSH
- lidé středního věku MeSH
- lidé MeSH
- perfuze škodlivé účinky MeSH
- revaskularizace mozku * metody MeSH
- výsledek terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
Cervical mucus is a viscous fluid functioning as a cervix plug. Products of the endometrial and cervical glands can be detected in the cervical mucus. Cervical mucus is further enriched with transudate originating from the fallopian tubes and proteins originating from the ovaries, peritoneum and distant tissues. With increasing levels of ovarian estrogens, the properties of cervical mucus for possible collection and processing change appropriately. For these reasons, we chose a group of 10 patients treated in the center of assisted reproduction by controlled ovarian stimulation for in vitro fertilization. This study focuses on the proteomic characterization of cervical mucus and localizes the possible sources of the identified proteins. The most abundant proteins were extracellular proteins, mainly mucins; however, most of the identified proteins, present usually in lower quantities, were of intracellular origin. The tissue analysis revealed that proteins from female reproductive organs are also expressed in other tissues in addition to female reproductive organs, but also proteins specific to the testis, liver, placenta, retina, and cerebellum. This study confirms the suitability and high potential of cervical mucus as a source of proteomic bio-markers not only for the dia-gnosis of the female reproductive tract.
- Klíčová slova
- cervical mucus, proteomics, tissue expression,
- MeSH
- cervikální hlen * MeSH
- exsudáty a transsudáty MeSH
- lidé MeSH
- ovarium MeSH
- proteom * MeSH
- proteomika MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- proteom * MeSH
BACKGROUND/OBJECTIVE: Hormone receptor (HR) status is one of the key factors in determining the treatment of breast cancer. Previous studies suggested that HR status may change in metastatic tissue. However, available studies focused mainly on primary biopsies and there are only few trials comparing HR status in the primary tumour and the metastasis using material from complete resection. The aim of the study was to determine the frequency of HR alterations in metastatic breast cancer. MATERIALS AND METHODS: The study retrospectively examines a total of 50 patients who underwent brain, lung, or liver metastasectomy for metastatic breast cancer between January 2000 and January 2019. RESULTS: HR conversion was observed in a total of 30 cases (60.0%), while HER-2/neu (human epidermal growth factor receptor 2) discrepancy surprisingly occurred only in one case (2.0%). A change in immunophenotype occurred in 28% of cases. Triple-negativity was more frequent in brain metastases (p = 0.039). CONCLUSIONS: We have confirmed that HR conversion between the primary tumour and its metastases occurs in a significant number of cases, which has important implications for further treatment decisions.
- Klíčová slova
- breast cancer metastases, hormone receptor status, receptor status discrepancy,
- Publikační typ
- časopisecké články MeSH
