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In this study we aimed to identify the spectrum of affected genes in Ukrainian patients diagnosed with primary myelofibrosis (PMF). DNA samples were obtained from peripheral blood leukocytes of 30 Ukrainian PMF patients. Using Whole Exome Sequencing, we detected previously reported and unreported sequence variants considered as pathogenic or potentially pathogenic. Canonical mutations of usual MPN-driver genes were detected in 70% of PMF patients, including JAK2V617F in 43.3%, MPLW515 in 10% and CALRmutations (type 1-like and 2-like) in 16.7% of patients. Also, a non-canonical MPLP222S variant was detected in one patient negative for these mutations. However, in cell culture assay, MPLP222S expression in Ba/F3 cells did not demonstrate differences in phosphorylation of JAK/STAT signaling proteins in response to TPO stimulation compared to MPLWT expression. Overall, more pathogenic and potentially pathogenic sequence variants were found among PMF patients negative for canonical mutations in three driver genes (JAK2, MPL andCALR), compared to patients, positive for one of these mutations. The mean numbers of variants were 5 (range: 4 7) versus 3.3 (range: 1 9), respectively (p = 0.03). The most frequently affected among Ukrainian PMF patients were genes ASXL1, PEG3, EZH2, ATM, U2AF1, andCDH23in addition to JAK2, MPL andCALR. Pathogenic or potentially pathogenic sequence variants of ASXL1and EZH2genes were identified in 23.3% and 16.7% of cases, respectively. Genes JARID2, RBBP8, RTEL1, SUZ12, BRCA2, LAMB4, NF1, RBM12B, RBM43, and RBP3 were recurrently affected in PMF patients who were also positive for usual mutations in three driver genes. Among PMF patients negative for usual mutations in three driver genes recurrently affected genes were DNMT3Aand TET2in addition to mentioned earlier, and some genetic variants were identified in RTEL1, SUZ12, CBL, CUX1, FLT3LGand UMODL1genes in single cases. Also, we identified several genes affected in single cases (KIT, SF3B1, GNAS) in PMF patients negative for canonical mutations in three driver genes which may be potential MPN drivers.

Objective: Transcranial Doppler ultrasound (TDUS), computed tomography angiography (CTA), and transcranial Doppler ultrasound to detect cerebral blood flow are among the adjunctive tests in diagnosing brain death. This study aimed to investigate the effectiveness of orbital doppler ultrasound (ODUS)., Methods: This prospective, single-blind study included 66 patients for whom brain death was to be diagnosed. Primary outcome measures were ODUS measurements, Ophthalmic artery peak systolic velocity (PSV), end-diastolic velocity (EDV), and resistive indices (RI) measurements recorded during the brain death determination process. Secondary outcome measures were computed tomography angio (CTA), transcranial Doppler ultrasound (TDUS), and demographic data., Results: This study investigating the effectiveness of ODUS in diagnosing brain death provided diagnostic success with 100% sensitivity and 93% specificity compared to CT angiography. It was noted that anatomical variations may limit its use., Conclusion: ODUS was found to have high sensitivity and specificity in the diagnosis of clinical brain death. It may assist in early prognostic assessment and shorten patient follow-up and diagnostic processes., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Introduction: Chronic postsurgical pain (CPSP) is defined as pain persisting for ≥ 3 months after surgery, severely impairing patients' long-term daily activities and quality of life., Aim: To evaluate the effects of various regional analgesia methods, including thoracic epidural (TE), serratus anterior plane (SAP) block, rhomboid intercostal block (RIB) and paravertebral block (PVB), on the incidence of chronic post-thoracic surgery pain., Material and Methods: A total of 489 patients (240 thoracotomy, 249 VATS) were included in the analysis. The primary outcome measure was the VAS score (postoperative 6 th month), while the secondary outcome measures were the LANSS score (postoperative 6 th month), the use of analgesic medication and descriptive information., Results: In thoracotomy patients, VAS scores were statistically significantly lower in patients who underwent RIB and SAP block compared to those who underwent TE and patient-controlled anesthesia (PCA). LANSS scores did not differ between the RIB, SAP and TE groups, while higher scores were found in the PCA group. After VATS, VAS scores were statistically significantly lower in patients who underwent RIB, SAP and PVB block compared to the PCA group. LANSS scores were statistically significantly lower in the RIB and SAP block groups than in the PVB and PCA groups., Conclusions: This study found that patients who received regional anesthesia had lower LANSS scores and VAS values, indicative of neuropathic pain reduction, following thoracotomy and VATS procedures., Competing Interests: The authors report no conflict of interest., (Copyright: © 2023 Polish Society of Cardiothoracic Surgeons (Polskie Towarzystwo KardioTorakochirurgów) and the editors of the Polish Journal of Cardio-Thoracic Surgery (Kardiochirurgia i Torakochirurgia Polska).)