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Introduction: Lower-risk myelodysplastic neoplasms (LR-MDS) comprise the majority of MDS. Despite favourable prognoses, some patients remain at risk of rapid progression. We aimed to define the mutational profile of LRMDS using next-generation sequencing (NGS), Sanger Sequencing (SSeq), and pyrosequencing. Material and methods: Samples from 5 primary LR-MDS (67 exons of SF3B1, U2AF1, SRSF2, ZRSR2, TET2, ASXL1, DNMT3A, TP53, and RUNX1 genes) were subjected to NGS. Next, a genomic study was performed to test for the presence of identified DNA sequence variants on a larger group of LR-MDS patients (25 bone marrow [BM], 3 saliva [SAL], and one peripheral blood [PB] sample/s). Both SSeq (all selected DNA sequence variants) and pyrosequencing (9 selected DNA sequence variants) were performed. Results: Next-generation sequencing results identified 13 DNA sequence variants in 7 genes, comprising 8 mutations in 6 genes (ASXL1, DNMT3A, RUNX1, SF3B1, TET2, ZRSR2) in LR-MDS. The presence of 8 DNA variants was detected in the expanded LR-MDS group using SSeq and pyrosequencing. Mutation acquisition was observed during LR-MDS progression. Four LR-MDS and one acute myeloid leukaemia myelodysplasia-related patient exhibited the presence of at least one mutation. ASXL1 and SF3B1 alterations were most commonly observed (2 patients). Five DNA sequence variants detected in BM (patients: 9, 13) were also present in SAL. Conclusions: We suggest using NGS to determine the LR-MDS mutational profile at diagnosis and suspicion of disease progression. Moreover, PB and SAL molecular testing represent useful tools for monitoring LR-MDS at higher risk of progression. However, the results need to be confirmed in a larger group. [ABSTRACT FROM AUTHOR]

Introduction: The aim of the study was to assess the quality of life (QL) in patients with chronic myeloid leukaemia (CML) on diagnosis, and after i month and 12 months of treatment with imatinib, and to identify therapeutic elements which significantly lower the QL in the patients. Materials and methods: Assessment of QL was performed in adult patients diagnosed with CML hospitalized in the Department of Haematology, Department of Chemotherapy, and the Haematology Outpatient Clinic, Pomeranian Medical University in Szczecin (Poland). Quality of life was assessed with 2 questionnaires: EORTC QLQ-C30 and EQ-5D, while symptoms of depression were measured using the CES-D questionnaire. Quality of life was analyzed at 3 time points: on diagnosis (Ai), after 1 month (A2), and after 12 months of therapy (A3). All groups of patients were treated with imatinib. Results: Emotional functioning and global health status and subjective QL significantly improved from Ai to A3. Patients reported significantly less fatigue and pain. Symptoms of depression significantly reduced during treatment. The group of patients caring for others in serious illness had reported a higher index of depression. Patients without any academic degree or extra qualifications, and the group of patients caring for others in serious illness, had reported significantly lower cognitive functioning. Conclusions: Measurement of various aspects of QL using the EORTC QLQ-C30 and EQ-5D questionnaires showed significant improvements after the 1st month of treatment compared to the state at diagnosis of CML. Due to high levels on the CES-D Depression Scale patients with CML do require constant psychological assistance and in some cases also psychiatric help. [ABSTRACT FROM AUTHOR]

Purpose: To examine the proportion of Demodex folliculorum and D. brevis in the eyelashes of healthy and immunocompromised patients. Methods: Eyelashes were taken from 95 patients at the Pomeranian Medical University, Clinic of Haematology, and from 1091 healthy controls. Results: Demodex folliculorum and D. brevis were found in 22.9% of controls and in 20% of immunocompromised patients. In neither the control group nor the immunocompromised patients did we observe a correlation between the proportion of symptoms of blepharitis and the presence of Demodex spp. - symptoms including burning sensations, loss of eyelashes, sensitivity to light, smoke and dust, dacryorrhea (excessive flow of tears), and foreign body eye sensation. A correlation between itching eyes and Demodex spp. infection was found only in the control group. A correlation between the proportion of cylindrical dandruff in eyelashes and the occurrence of Demodex spp was found in both the control group and immunocompromised patients. Conclusion: Proportions of D. folliculorum and D. brevis, and also symptoms of blepharitis were similar in the control group and immunocompromised patients. Immunosuppression did not seem to increase the rate of Demodex spp. infection. [ABSTRACT FROM AUTHOR]

Introduction: Lower-risk myelodysplastic neoplasms (LR-MDS) comprise the majority of MDS. Despite favourable prognoses, some patients remain at risk of rapid progression. We aimed to define the mutational profile of LR-MDS using next-generation sequencing (NGS), Sanger Sequencing (SSeq), and pyrosequencing., Material and Methods: Samples from 5 primary LR-MDS (67 exons of SF3B1, U2AF1, SRSF2, ZRSR2, TET2, ASXL1, DNMT3A, TP53 , and RUNX1 genes) were subjected to NGS. Next, a genomic study was performed to test for the presence of identified DNA sequence variants on a larger group of LR-MDS patients (25 bone marrow [BM], 3 saliva [SAL], and one peripheral blood [PB] sample/s). Both SSeq (all selected DNA sequence variants) and pyrosequencing (9 selected DNA sequence variants) were performed., Results: Next-generation sequencing results identified 13 DNA sequence variants in 7 genes, comprising 8 mutations in 6 genes ( ASXL1, DNMT3A, RUNX1, SF3B1, TET2, ZRSR2 ) in LR-MDS. The presence of 8 DNA variants was detected in the expanded LR-MDS group using SSeq and pyrosequencing. Mutation acquisition was observed during LR-MDS progression. Four LR-MDS and one acute myeloid leukaemia myelodysplasia-related patient exhibited the presence of at least one mutation. ASXL1 and SF3B1 alterations were most commonly observed (2 patients). Five DNA sequence variants detected in BM (patients: 9, 13) were also present in SAL., Conclusions: We suggest using NGS to determine the LR-MDS mutational profile at diagnosis and suspicion of disease progression. Moreover, PB and SAL molecular testing represent useful tools for monitoring LR-MDS at higher risk of progression. However, the results need to be confirmed in a larger group., Competing Interests: The authors declare no conflict of interest., (Copyright © 2023 Termedia.)