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Objective: To analyze the methylation status of p15, DAPK, SOCS1 and FHIT genes in patients with myelodysplastic syndrome(MDS) and to explore the prognostic significance of gene methylation.
Methods: Methylation-specific PCR (MSP) was used to detect the methylation of the above-mentioned 4 genes in 67 patients with MDS and 18 patients with iron-deficient anemia as controls. The gene methylation status of MDS patients and its effect on prognosis were analyzed.
Results: The methylation rates of p15, DAPK, SOCS1 and FHIT in 67 MDS patients were 37.3%, 35.8%, 47.8% and 52.2%, respectively, which were significantly higher than those in the control group (P<0.05). The methylation status of p15, SOCS1 was increased along with the increase of International Prognostic Scoring System(IPSS) scores (P<0.05), and ≥2 genes was more frequent in relatively high risk groups (P<0.05). The median overall survival time of patients with and without methylation were 15 and 21 months, respectively (P<0.05). Patients showing methylation of SOCS1 had a significantly shorter survival time in relatively low risk groups(P<0.05), meanwhile SOCS1, p15 and methylations of ≥2 genes had significantly shorter survival time in relatively high risk groups(P<0.05). In multivariate analysis, SOCS1 and p15 were negative prognostic factors.
Conclusion: p15, DAPK, SOCS1 and FHIT are higher hypermethylated genes in MDS. The methylations of SOCS1 and p15 are independent prognostic factor for overall survival in MDS.
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http://dx.doi.org/10.7534/j.issn.1009-2137.2017.04.028 | DOI Listing |
BMC Neurol
September 2025
Department of Neurology, University Hospital Schleswig-Holstein, Kiel, Germany.
Background: Parkinson's disease (PD) is characterized by motor symptoms altering gait domains such as slow walking speed, reduced step and stride length, and increased double support time. Gait disturbances occur in the early, mild to moderate, and advanced stages of the disease in both backward walking (BW) and forward walking (FW), but are more pronounced in BW. At this point, however, no information is available about BW performance and disease stages specified using the Hoehn and Yahr (H&Y) scale.
View Article and Find Full Text PDFBlood Adv
September 2025
AP-HP, Hôpital Saint Louis and University of Paris, INSERM U944 and THEMA insitute, Paris, France.
Germline DDX41 mutations (DDX41mut) are identified in approximately 5% of myeloid malignancies with excess of blasts, representing a distinct MDS/AML entity. The disease is associated with better outcomes compared to DDX41 wild-type (DDX41WT), but patients who do not undergo allogeneic hematopoietic stem cell transplantation (HSCT) may experience late relapse. Due to the recent identification of DDX41mut, data on post-HSCT outcomes remain limited.
View Article and Find Full Text PDFMov Disord Clin Pract
September 2025
Neurology Unit, Neuromotor and Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Background: GBA1 variants are the major genetic risk factor for Parkinson's Disease (PD) and account for 5-30% of PD cases depending on the population and age at onset of the disease.
Objectives: The aim of this study was to assess whether Artificial Intelligence (AI) could predict GBA1-mutated genotype in PD (GBA1-PD). Particularly, the main objective was to identify a Machine Learning (ML) model capable of accurately providing a pre-test estimate of GBA1-mutated status, relying on the clinical and demographic variables with the highest predictive value.
Medicine (Baltimore)
September 2025
Mianzhu City People's Hospital, Mianzhu, Sichuan, China.
Background: Standard treatments for advanced cervical cancer, such as paclitaxel-cisplatin combination (TP) chemotherapy, are often limited by reduced efficacy and significant toxicity. Cinobufacini (Huachansu), a traditional Chinese medicine, has demonstrated potential in enhancing the effectiveness of conventional cancer therapies.
Methods: A systematic search of Web of Science, PubMed, Cochrane, Embase, China National Knowledge Infrastructure, and other databases was conducted up to July 30, 2024.
Paroxysmal Nocturnal Hemoglobinuria (PNH) clones are frequently found in hypoplastic myelodysplastic syndromes (hMDS), though less commonly than in aplastic anemia. In contrast, the coexistence of hemolytic PNH with large clones and classical, hypercellular MDS (non-hMDS) is rare and likely underrecognized in clinical practice. Since 2014, 229 MDS patients have been seen at our department.
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