cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.29364149
title: Epidemiology of immune thrombocytopenia in Yunnan Province and cytokine expression characteristics at different altitudes

description: Primary immune thrombocytopenia (ITP) is an autoimmune hemorrhagic disorder characterized by low platelet counts. Currently, the epidemiology of ITP in China remains poorly understood. A cross-sectional study was conducted to analyze data from newly diagnosed ITP patients in Yunnan Province from 2022 to 2023 to assess the epidemiological characteristics of ITP. Enzyme linked immunosorbent assay (ELISA) were conducted to detect plasma cytokine levels in ITP patients and healthy controls from two different altitude regions. This study reports for the first time an average incidence rate of 6.75 per 100,000 population for ITP in Yunnan Province, China. There was a significant difference in incidence rates between males and females, at 5.9 and 7.59, respectively. Infants under the age of 4 were identified as having the highest risk of ITP. After age 70, the incidence in males began to exceed that in females. This is different from previous reports in Japan, Europe and the United States. Additionally, there was no significant difference in the incidence of ITP based on altitude; however, mid-latitude regions had a higher concentration of ITP patients. Cytokine analysis was performed in 88 individuals, revealing significantly elevated Hypoxia-inducible factor alpha (HIF-1α) and Interleukin (IL-4) levels in ITP patients from high-altitude regions. This study offers the first insights into the epidemiological characteristics of ITP in Yunnan Province and underscores the impact of altitude on cytokine variations in ITP patients. These findings offer valuable guidance for personalized treatment strategies and the formulation of public health policies for ITP.
DOI: 10.6084/m9.figshare.29364149.v1
title: Epidemiology of immune thrombocytopenia in Yunnan Province and cytokine expression characteristics at different altitudes

description: Primary immune thrombocytopenia (ITP) is an autoimmune hemorrhagic disorder characterized by low platelet counts. Currently, the epidemiology of ITP in China remains poorly understood. A cross-sectional study was conducted to analyze data from newly diagnosed ITP patients in Yunnan Province from 2022 to 2023 to assess the epidemiological characteristics of ITP. Enzyme linked immunosorbent assay (ELISA) were conducted to detect plasma cytokine levels in ITP patients and healthy controls from two different altitude regions. This study reports for the first time an average incidence rate of 6.75 per 100,000 population for ITP in Yunnan Province, China. There was a significant difference in incidence rates between males and females, at 5.9 and 7.59, respectively. Infants under the age of 4 were identified as having the highest risk of ITP. After age 70, the incidence in males began to exceed that in females. This is different from previous reports in Japan, Europe and the United States. Additionally, there was no significant difference in the incidence of ITP based on altitude; however, mid-latitude regions had a higher concentration of ITP patients. Cytokine analysis was performed in 88 individuals, revealing significantly elevated Hypoxia-inducible factor alpha (HIF-1α) and Interleukin (IL-4) levels in ITP patients from high-altitude regions. This study offers the first insights into the epidemiological characteristics of ITP in Yunnan Province and underscores the impact of altitude on cytokine variations in ITP patients. These findings offer valuable guidance for personalized treatment strategies and the formulation of public health policies for ITP.
DOI: 10.6084/m9.figshare.29636169
title: METTL7A is a potential biomarker for the diagnosis and prognosis of acute myeloid leukemia

description: Methyltransferase-like protein 7A (METTL7A), an m6A methyltransferase, is closely associated with various cancers, but its role in acute myeloid leukemia (AML) remains unclear. This study employed bioinformatics analysis using the Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) datasets. Furthermore, METTL7A expression levels in AML samples were validated using qRT-PCR. Analyses of TCGA, GTEx, and a single-center cohort all revealed significantly higher METTL7A expression in AML patients compared to controls. High METTL7A expression correlated with poor prognosis and pathological features. ROC curve analysis confirmed its diagnostic value, while multivariate analysis identified METTL7A as an independent prognostic risk factor, leading to the development of a prognostic nomogram. KEGG and GSEA analyses indicated METTL7A's involvement in immune regulation, which was further supported by immune infiltration analysis showing its association with immune cell infiltration. High METTL7A expression is associated with poor prognosis in AML and may be a potential diagnostic and prognostic biomarker.
DOI: 10.6084/m9.figshare.29636169.v1
title: METTL7A is a potential biomarker for the diagnosis and prognosis of acute myeloid leukemia

description: Methyltransferase-like protein 7A (METTL7A), an m6A methyltransferase, is closely associated with various cancers, but its role in acute myeloid leukemia (AML) remains unclear. This study employed bioinformatics analysis using the Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) datasets. Furthermore, METTL7A expression levels in AML samples were validated using qRT-PCR. Analyses of TCGA, GTEx, and a single-center cohort all revealed significantly higher METTL7A expression in AML patients compared to controls. High METTL7A expression correlated with poor prognosis and pathological features. ROC curve analysis confirmed its diagnostic value, while multivariate analysis identified METTL7A as an independent prognostic risk factor, leading to the development of a prognostic nomogram. KEGG and GSEA analyses indicated METTL7A's involvement in immune regulation, which was further supported by immune infiltration analysis showing its association with immune cell infiltration. High METTL7A expression is associated with poor prognosis in AML and may be a potential diagnostic and prognostic biomarker.
DOI: 10.6084/m9.figshare.30026297.v1
title: Potential prognostic value and immune landscape of lactylation and liquid–liquid phase separation related genes in acute myeloid leukemia

description: Lactylation- and liquid-liquid phase separation-related differentially expressed genes (LLRDEGs) have been implicated in cancer. However, their role in acute myeloid leukemia (AML) remains largely unexplored. LLRDEGs associated with AML prognosis were identified using Cox regression and LASSO analyzes. A prognostic model based on three LLRDEGs was constructed for AML, and its associated biological functions were investigated. Furthermore, we evaluated differences in the tumor immune microenvironment based on this prognostic signature. This study represents the first comprehensive analysis of the prognostic value of LLRDEGs in AML patients, identifying three LLRDEGs with prognostic significance. A prognostic risk model was constructed using these three LLRDEGs, and its prognostic value was validated in an independent external AML dataset. This model was associated with the immune microenvironment of AML. Finally, we observed that chaperonin containing TCP1 subunit 5 (CCT5) was highly expressed in AML. In vitro experiments demonstrated that inhibition of CCT5 induces HL-60 cell cycle arrest and apoptosis. This research provides a theoretical basis relevant to AML treatment strategies. Acute myeloid leukemia (AML) is a severe type of blood cancer characterized by the rapid growth of abnormal white blood cells in the bone marrow, which hampers normal blood cell production. Despite advancements in treatment, the survival rates for AML patients, especially older adults, remain low. Understanding the molecular mechanisms behind AML could lead to better prognostic tools and treatments. This study explored the roles of specific genes related to lactylation and liquid–liquid phase separation (LLRDEGs) in AML. Researchers identified 11 LLRDEGs linked to AML prognosis and focused on three key genes (ALDH1A1, CCT5, and LAP3). They developed a prognostic model using these three genes and validated it with an independent dataset. The model effectively distinguished between high-risk and low-risk AML patients, indicating that those with higher expression of these genes had a worse prognosis. Additionally, the study examined differences in the tumor immune environment between high-risk and low-risk groups. This research provides a new prognostic model for AML based on three specific genes, offering a more precise method to predict patient outcomes. The study also highlights the connection between these genes and the immune environment in AML, which could guide future treatment strategies. Potentially improving survival rates and quality of life for those battling AML.
DOI: 10.6084/m9.figshare.30026297
title: Potential prognostic value and immune landscape of lactylation and liquid–liquid phase separation related genes in acute myeloid leukemia

description: Lactylation- and liquid-liquid phase separation-related differentially expressed genes (LLRDEGs) have been implicated in cancer. However, their role in acute myeloid leukemia (AML) remains largely unexplored. LLRDEGs associated with AML prognosis were identified using Cox regression and LASSO analyzes. A prognostic model based on three LLRDEGs was constructed for AML, and its associated biological functions were investigated. Furthermore, we evaluated differences in the tumor immune microenvironment based on this prognostic signature. This study represents the first comprehensive analysis of the prognostic value of LLRDEGs in AML patients, identifying three LLRDEGs with prognostic significance. A prognostic risk model was constructed using these three LLRDEGs, and its prognostic value was validated in an independent external AML dataset. This model was associated with the immune microenvironment of AML. Finally, we observed that chaperonin containing TCP1 subunit 5 (CCT5) was highly expressed in AML. In vitro experiments demonstrated that inhibition of CCT5 induces HL-60 cell cycle arrest and apoptosis. This research provides a theoretical basis relevant to AML treatment strategies. Acute myeloid leukemia (AML) is a severe type of blood cancer characterized by the rapid growth of abnormal white blood cells in the bone marrow, which hampers normal blood cell production. Despite advancements in treatment, the survival rates for AML patients, especially older adults, remain low. Understanding the molecular mechanisms behind AML could lead to better prognostic tools and treatments. This study explored the roles of specific genes related to lactylation and liquid–liquid phase separation (LLRDEGs) in AML. Researchers identified 11 LLRDEGs linked to AML prognosis and focused on three key genes (ALDH1A1, CCT5, and LAP3). They developed a prognostic model using these three genes and validated it with an independent dataset. The model effectively distinguished between high-risk and low-risk AML patients, indicating that those with higher expression of these genes had a worse prognosis. Additionally, the study examined differences in the tumor immune environment between high-risk and low-risk groups. This research provides a new prognostic model for AML based on three specific genes, offering a more precise method to predict patient outcomes. The study also highlights the connection between these genes and the immune environment in AML, which could guide future treatment strategies. Potentially improving survival rates and quality of life for those battling AML.
DOI: 10.6084/m9.figshare.30155392
title: Anemia increases the risk of venous thromboembolism? Insights from genome-wide association studies

description: Venous thromboembolism (VTE) is a significant global health concern. Recent investigations indicate that anemia may increase the risk of VTE. Nevertheless, the presence of confounding variables in observational studies has rendered the causal association between anemia and VTE inconclusive. This study utilized a two-sample Mendelian Randomization methodology, employing genetic variants derived from specific large-scale genome-wide association studies as instrumental variables to investigate the causal relationship between anemia and VTE. Rigorous statistical analyses were conducted, including the primary analysis based on the inverse-variance weighted (IVW) method, along with supplementary analyses such as MR-Egger, weighted median, and MR-PRESSO, to ensure the reliability and validity of our results. Our analysis suggests a potential causal association between anemia and certain thrombotic events. Anemia was associated with an increased risk of thrombosis and embolism in unusual sites (OR = 1.446, 95% CI: 1.104–1.895, <i>p</i> = 0.007), while aplastic anemia showed a weak positive association with overall VTE risk (OR = 1.065, 95% CI: 1.003–1.131, <i>p</i> = 0.040). Anemia individuals face an increased risk of embolism and thrombosis events, and AA exhibits a potential association with VTE. Nevertheless, a comprehensive comprehension of the precise underlying mechanisms linking anemia/AA and VTE necessitates further exploration through supplementary research. Schematic representation of the two-sample MR analysis assessing the causal effects of anemia and its subtypes (IDA, HHA, AA) on VTE and related thrombotic outcomes (PE, DVT, PVT, and other embolism and thrombosis), using SNPs as instrumental variables. <b>Abbreviations:</b> AA, aplastic anemia; DVT, deep vein thrombosis; HHA, hereditary hemolytic anemias; IDA, iron-deficiency anemia; MR, Mendelian randomization; PE, pulmonary embolism; PVT, portal vein thrombosis; VTE, venous thromboembolism.
DOI: 10.6084/m9.figshare.30155392.v1
title: Anemia increases the risk of venous thromboembolism? Insights from genome-wide association studies

description: Venous thromboembolism (VTE) is a significant global health concern. Recent investigations indicate that anemia may increase the risk of VTE. Nevertheless, the presence of confounding variables in observational studies has rendered the causal association between anemia and VTE inconclusive. This study utilized a two-sample Mendelian Randomization methodology, employing genetic variants derived from specific large-scale genome-wide association studies as instrumental variables to investigate the causal relationship between anemia and VTE. Rigorous statistical analyses were conducted, including the primary analysis based on the inverse-variance weighted (IVW) method, along with supplementary analyses such as MR-Egger, weighted median, and MR-PRESSO, to ensure the reliability and validity of our results. Our analysis suggests a potential causal association between anemia and certain thrombotic events. Anemia was associated with an increased risk of thrombosis and embolism in unusual sites (OR = 1.446, 95% CI: 1.104–1.895, <i>p</i> = 0.007), while aplastic anemia showed a weak positive association with overall VTE risk (OR = 1.065, 95% CI: 1.003–1.131, <i>p</i> = 0.040). Anemia individuals face an increased risk of embolism and thrombosis events, and AA exhibits a potential association with VTE. Nevertheless, a comprehensive comprehension of the precise underlying mechanisms linking anemia/AA and VTE necessitates further exploration through supplementary research. Schematic representation of the two-sample MR analysis assessing the causal effects of anemia and its subtypes (IDA, HHA, AA) on VTE and related thrombotic outcomes (PE, DVT, PVT, and other embolism and thrombosis), using SNPs as instrumental variables. <b>Abbreviations:</b> AA, aplastic anemia; DVT, deep vein thrombosis; HHA, hereditary hemolytic anemias; IDA, iron-deficiency anemia; MR, Mendelian randomization; PE, pulmonary embolism; PVT, portal vein thrombosis; VTE, venous thromboembolism.
DOI: 10.6084/m9.figshare.30294805
title: Expert consensus definition of treatment intolerance in chronic myeloid leukemia in chronic phase

description: Chronic myeloid leukemia in the chronic phase (CML-CP) has undergone therapeutic transformation with the advent of BCR::ABL1 tyrosine kinase inhibitors (TKIs), improving 10-year survival rates from 20% to ∼90%. These outcomes place increasing importance on maintaining quality of life (QoL), which can be compromised by adverse events (AEs) that may lead to decreased adherence or sub-therapeutic doses. Currently, there is no standardized definition of treatment intolerance, and treatment switches are based on individual physician practices. A 13-member expert panel used a validated methodology (RAND/UCLA modified Delphi panel) to develop consensus on a definition of treatment intolerance in CML-CP. Panelists reviewed literature and provided 480 ratings on 96 unique patient scenarios that varied by TKI generation, line, and length of time on TKI treatment, frequency of AE interference on daily life, and TKI management strategies. Ratings were discussed at a meeting. After discussion, panelists agreed on 99% of scenarios. The group defined TKI treatment intolerance as patients whose AEs often interfered with daily activities, leading to TKI modifications. Panelists developed a tool to assess patient intolerance and recommendations for managing TKI therapy in the context of intolerance. Recognizing that treatment intolerance is influenced by laboratory findings, reported symptoms, and how patients experience their treatment, experts agreed on a patient-centered definition of TKI treatment intolerance in CML-CP. This definition represents a step forward in standardizing care for patients with CML-CP by presenting a balanced framework for managing TKI therapy, which will support shared decision-making.
DOI: 10.6084/m9.figshare.30294805.v1
title: Expert consensus definition of treatment intolerance in chronic myeloid leukemia in chronic phase

description: Chronic myeloid leukemia in the chronic phase (CML-CP) has undergone therapeutic transformation with the advent of BCR::ABL1 tyrosine kinase inhibitors (TKIs), improving 10-year survival rates from 20% to ∼90%. These outcomes place increasing importance on maintaining quality of life (QoL), which can be compromised by adverse events (AEs) that may lead to decreased adherence or sub-therapeutic doses. Currently, there is no standardized definition of treatment intolerance, and treatment switches are based on individual physician practices. A 13-member expert panel used a validated methodology (RAND/UCLA modified Delphi panel) to develop consensus on a definition of treatment intolerance in CML-CP. Panelists reviewed literature and provided 480 ratings on 96 unique patient scenarios that varied by TKI generation, line, and length of time on TKI treatment, frequency of AE interference on daily life, and TKI management strategies. Ratings were discussed at a meeting. After discussion, panelists agreed on 99% of scenarios. The group defined TKI treatment intolerance as patients whose AEs often interfered with daily activities, leading to TKI modifications. Panelists developed a tool to assess patient intolerance and recommendations for managing TKI therapy in the context of intolerance. Recognizing that treatment intolerance is influenced by laboratory findings, reported symptoms, and how patients experience their treatment, experts agreed on a patient-centered definition of TKI treatment intolerance in CML-CP. This definition represents a step forward in standardizing care for patients with CML-CP by presenting a balanced framework for managing TKI therapy, which will support shared decision-making.
DOI: 10.6084/m9.figshare.30329826
title: Association between RDW and in-hospital mortality among multiple myeloma patients: a retrospective investigation of the MIMIC-IV database

description: Red cell distribution width (RDW) has been acknowledged for its prognostic importance in multiple myeloma (MM) patients. However, the connection between RDW and mortality rates among MM patients who are admitted to the Intensive Care Unit (ICU) is still not clear. The aim of this study was to investigate the relationship between RDW and in-hospital mortality among MM patients in the ICU. The retrospective cohort study was carried out with the utilization of the MIMIC-IV database. The study subjects were multiple myeloma (MM) patients who were admitted to the hospital and the intensive care unit (ICU) for the first time. RDW was assessed using the worst values of parameters after admission to the ICU. The main result was in-hospital mortality from all causes. Multivariable-adjusted Cox regression analysis and curve fitting were employed to evaluate the relationship between RDW and in-hospital mortality among patients with multiple myeloma in the ICU. Multivariable Cox proportional hazards regression identified a significant independent association between elevated RDW and increased in-hospital mortality risk (adjusted HR 1.22, 95% CI 1.10–1.35; <i>P</i> &lt; 0.001). Furthermore, after adjusting for all confounding variables, curve fitting revealed a linear relationship between RDW and in-hospital mortality (P for non-linearity = 0.594), indicating a positive correlation between RDW and in-hospital mortality. RDW acts as an independent predictive factor for in-hospital mortality in patients diagnosed with multiple myeloma (MM), and should draw the attention of ICU physicians.
DOI: 10.6084/m9.figshare.30329826.v1
title: Association between RDW and in-hospital mortality among multiple myeloma patients: a retrospective investigation of the MIMIC-IV database

description: Red cell distribution width (RDW) has been acknowledged for its prognostic importance in multiple myeloma (MM) patients. However, the connection between RDW and mortality rates among MM patients who are admitted to the Intensive Care Unit (ICU) is still not clear. The aim of this study was to investigate the relationship between RDW and in-hospital mortality among MM patients in the ICU. The retrospective cohort study was carried out with the utilization of the MIMIC-IV database. The study subjects were multiple myeloma (MM) patients who were admitted to the hospital and the intensive care unit (ICU) for the first time. RDW was assessed using the worst values of parameters after admission to the ICU. The main result was in-hospital mortality from all causes. Multivariable-adjusted Cox regression analysis and curve fitting were employed to evaluate the relationship between RDW and in-hospital mortality among patients with multiple myeloma in the ICU. Multivariable Cox proportional hazards regression identified a significant independent association between elevated RDW and increased in-hospital mortality risk (adjusted HR 1.22, 95% CI 1.10–1.35; <i>P</i> &lt; 0.001). Furthermore, after adjusting for all confounding variables, curve fitting revealed a linear relationship between RDW and in-hospital mortality (P for non-linearity = 0.594), indicating a positive correlation between RDW and in-hospital mortality. RDW acts as an independent predictive factor for in-hospital mortality in patients diagnosed with multiple myeloma (MM), and should draw the attention of ICU physicians.