American journal of blood research最新文献

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Coagulopathy in the absence of overt DIC in postoperative neurosurgical patients is a strong predictor of poor outcome. 神经外科术后患者在没有明显DIC的情况下出现凝血障碍是预后不良的有力预测因素。
American journal of blood research Pub Date : 2023-08-15 eCollection Date: 2023-01-01
Pooja Sharma, Richa Gupta, Satendra Sharma, Mrinalini Kotru, Gurubachan Singh, Meera Sikka
{"title":"Coagulopathy in the absence of overt DIC in postoperative neurosurgical patients is a strong predictor of poor outcome.","authors":"Pooja Sharma,&nbsp;Richa Gupta,&nbsp;Satendra Sharma,&nbsp;Mrinalini Kotru,&nbsp;Gurubachan Singh,&nbsp;Meera Sikka","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objectives: </strong>To assess the prevalence of coagulopathy in postoperative neurosurgical patients and correlate it with the outcome.</p><p><strong>Materials and method: </strong>This longitudinal study was conducted in a tertiary care hospital in the Department of Pathology and Neurosurgery. Ethical approval was taken from the Institutional Ethical Committee - Human Research. Seventy-two (72) participants were recruited within 48 hours of surgery after obtaining consent. Complete clinical and surgical details were recorded. A 6.5 mL venous sample was collected and dispensed in two separate vials. The EDTA sample was run within 2 hours of collection on an automated hematology analyzer to obtain complete blood counts, including platelet count. The citrated sample was run on a fully automated coagulometer to determine PT, APTT, plasma fibrinogen, FVIII assay, and D-dimer levels. Subjects with a DIC-ISTH score of 5 or more were excluded. Coagulopathy was defined as three or more coagulation parameters deranged in a patient. All patients were followed up for the outcome. The outcome was correlated with coagulopathy, and a <i>p</i>-value less than 0.05 was considered statistically significant.</p><p><strong>Results: </strong>The study found that the number of hemostatic parameters deranged correlated with outcome (P < 0.001). The proportion of patients with coagulopathy was 32/72 (44.4%), while those without coagulopathy were 40/72 (55.6%). Of patients with coagulopathy, 87.5% (28/32) had an adverse outcome, while 12.5% (4/32) had a favorable outcome. The difference was found to be statistically significant (P < 0.001).</p><p><strong>Conclusions: </strong>Coagulopathy, defined as the derangement of three or more parameters, is a predictor of poor outcomes in postoperative neurosurgical patients. This timely recognition of coagulopathy can help triage patients requiring appropriate blood products, significantly reducing morbidity and mortality associated with postoperative neurosurgical patients.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 4","pages":"110-116"},"PeriodicalIF":0.0,"publicationDate":"2023-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509467/pdf/ajbr0013-0110.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41096125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Treatment of sickle cell disease - options and perspective. 镰状细胞病的治疗--选择与展望。
American journal of blood research Pub Date : 2023-04-15 eCollection Date: 2023-01-01
Loubna Abdel-Hadi, Yendry Ventura Carmenate, Yandy Marx Castillo-Aleman, Samira Sheikh, Aya Zakaria, John Phillips
{"title":"Treatment of sickle cell disease - options and perspective.","authors":"Loubna Abdel-Hadi, Yendry Ventura Carmenate, Yandy Marx Castillo-Aleman, Samira Sheikh, Aya Zakaria, John Phillips","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Sickle Cell Disease (SCD) is one of the most inherited hematologic diseases affecting humans. Clinically, there is a progressive multiorgan failure and increased mortality in severe cases. The highest prevalence is in West Africa, India, the Mediterranean region, and Middle East countries. Hydroxyurea was the primary drug available for SCD and remains first-line therapy for patients with SCD. Three additional drug therapies, L-glutamine, Voxelotor, and Crizanlizumab, have been approved as adjunctive agents. However, none of these treatments are curative. Effective cell-based therapies are available, such as red blood cell (RBC) exchange and the only curative therapy is hematopoietic stem cell transplantation (HSCT). Gene-editing now shows promise in treating SCD and the β-thalassemias. Recent clinical trials have proven that this therapeutic strategy is effective, however costly. Despite the availability of safe and effective drug treatments, questions focusing on the overall value of these drugs exist in light of rising healthcare costs including hospitalizations and medical interventions. Herein, we report a cost-effective evaluation that can guide future efforts in making decisions towards HSCT as cell therapy treatment in SCD patients.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 2","pages":"61-70"},"PeriodicalIF":0.0,"publicationDate":"2023-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195315/pdf/ajbr0013-0061.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9858420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic relevance of NPM1, CEBPA, and FLT3 mutations in cytogenetically normal adult AML patients. 细胞遗传学正常的成年AML患者NPM1、CEBPA和FLT3突变与预后的相关性
American journal of blood research Pub Date : 2023-02-15 eCollection Date: 2023-01-01
Aparna Ningombam, Deepak Verma, Rajive Kumar, Jay Singh, M Shadab Ali, Avanish Kumar Pandey, Inder Singh, Sameer Bakhshi, Atul Sharma, Deepam Pushpam, Jayanth Kumar Palanichamy, Pranay Tanwar, Amar Ranjan Singh, Anita Chopra
{"title":"Prognostic relevance of <i>NPM1, CEBPA,</i> and <i>FLT3</i> mutations in cytogenetically normal adult AML patients.","authors":"Aparna Ningombam, Deepak Verma, Rajive Kumar, Jay Singh, M Shadab Ali, Avanish Kumar Pandey, Inder Singh, Sameer Bakhshi, Atul Sharma, Deepam Pushpam, Jayanth Kumar Palanichamy, Pranay Tanwar, Amar Ranjan Singh, Anita Chopra","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Acute myeloid leukemia with normal cytogenetics (CN-AML) is the largest group of AML patients with very heterogenous patient outcomes. The revised World Health Organization classification of the hematolymphoid tumours, 2022, has incorporated AML with Nucleophosphmin1 (<i>NPM1</i>) and CCAAT/enhancer binding protein-alpha (<i>CEBPA</i>) mutations as distinct entities. Despite the existing evidence of the prognostic relevance of FMS-like tyrosine kinase-3 internal tandem duplication (<i>FLT3-ITD</i>) in AML, it has not been included in the revised classification.</p><p><strong>Method: </strong>In this prospective study, we determined the prevalence of <i>NPM1, CEBPA,</i> and <i>FLT3</i> gene mutations in 151 de novo CN-AML adult patients (age ≥18 years) in a tertiary care hospital in north India. Additionally, the prognostic relevance of these mutations was also evaluated.</p><p><strong>Results: </strong><i>NPM1, FLT3-ITD,</i> and <i>CEBPA</i> mutations were found in 33.11%, 23.84%, and 15.77% of CN-AML patients, respectively. <i>CEBPA</i> mutations were found at 3 domains: transactivation domain 1 (TAD1) in 10 (6.62%), transactivation domain 2 (TAD2) in 5 (3.31%), and basic leucine zipper domain (bZIP) in 11 (7.82%) patients. Patients with <i>NPM1</i> mutation had better clinical remission rate (CR) (P=0.003), event-free survival (P=0.0014), and overall survival (OS) (P=0.0017). However, <i>FLT3-ITD</i> and <i>CEBPA mutations</i> did not show any association with CR (P=0.404 and 0.92, respectively). Biallelic <i>CEBPA</i> mutations were found in 12 (7.95%) patients and were associated with better OS (P=0.043).</p><p><strong>Conclusions: </strong>These findings indicate that <i>NPM1</i> and <i>CEBPA</i> mutations can be precisely used for risk stratification in CN-AML patients.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"28-43"},"PeriodicalIF":0.0,"publicationDate":"2023-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017593/pdf/ajbr0013-0028.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9750771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inherited thrombophilia: undetected comorbidity complicating COVID-19 infection. 遗传性血栓病:未发现的COVID-19感染合并症
American journal of blood research Pub Date : 2023-01-01
Divya Khatana, Poonam Rani, Swati Jain, Richa Gupta, Ashish Goel, Mrinalini Kotru
{"title":"Inherited thrombophilia: undetected comorbidity complicating COVID-19 infection.","authors":"Divya Khatana,&nbsp;Poonam Rani,&nbsp;Swati Jain,&nbsp;Richa Gupta,&nbsp;Ashish Goel,&nbsp;Mrinalini Kotru","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The relation between the severity of COVID-19 and coexisting undiagnosed underlying thrombophilic conditions is not yet established. It may be possible that undiagnosed thrombophilia exaggerates an already pro-thrombotic state in COVID-19 patients and may be responsible for severe disease in absence of any known co-morbidity. The aim was to analyze the association of underlying thrombophilia with the severity of COVID-19 infection in post-COVID patients after a minimum of 6 weeks of recovery and to compare thrombophilia profile in severe versus non-severe COVID-19 patients. Forty severe and 40 non-severe COVID patients at least 6 weeks post recovery were selected for thrombophilia profile and complete blood count evaluation. The data were analyzed using Stata software, USA; version 13. The Chi-square test and Student's t-test were used to compare proportions and mean respectively. A total of 14/80 (17.5%) were positive for the thrombophilia screen. Protein C deficiency was noted in 6/40 (15%) severe COVID patients but not in the non-severe group. The Protein S deficiency was seen in 7/40 (17.5%) severe patients and only 1 patient was deficient in the non-severe group (2.5%). The mean Protein C and Protein S levels of severe and non-severe COVID patients were statistically significant (P-0.002) and (P-0.007) respectively. The difference in mean anti-COVID IgG antibody titer of severe and non-severe COVID patients was also statistically significant (P-0.0001). To Conclude, Protein C & S deficiencies were the commonest abnormalities detected in severe COVID patients. Positive thrombophilia profile and higher titers of anti-IgG COVID-19 antibodies were seen in a significant number of patients who had suffered from Severe COVID-19 than in non-severe infection, even after 6 weeks of recovery. Thereby, suggesting that underlying thrombophilia might have affected the severity of the disease.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 3","pages":"94-103"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10349295/pdf/ajbr0013-0094.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10182934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The effect of aging on the epidemiology of blood transfusions in North Khorasan province, Iran. 年龄对伊朗北呼罗珊省输血流行病学的影响。
American journal of blood research Pub Date : 2023-01-01
Hamed Mortazavi, Akbar Mohammadi, Elham Sharifian, Nima Firouzeh, Alex van Belkum, Hamed Ghasemzadeh-Moghaddam
{"title":"The effect of aging on the epidemiology of blood transfusions in North Khorasan province, Iran.","authors":"Hamed Mortazavi,&nbsp;Akbar Mohammadi,&nbsp;Elham Sharifian,&nbsp;Nima Firouzeh,&nbsp;Alex van Belkum,&nbsp;Hamed Ghasemzadeh-Moghaddam","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Additional knowledge on the epidemiology and recipients of blood transfusions will help health-care managers to estimate the future needs. The study was performed to define the blood transfusion rate based on gender, sex, and clinical features of patients receiving blood products in all hospitals of the North Khorasan province of Iran.</p><p><strong>Methods: </strong>Data on blood transfusion implementation were extracted from blood bank documents. The data for all patients who received at least one blood product were collected from March 2018 to March 2019.</p><p><strong>Results: </strong>Among blood transfused patients, the highest transfusion rate was for packed red blood cells (PRBC) (47.7%). The two other most frequently used products were fresh frizzed plasma (FFP) (27.2%) and platelets (PLT) (21.9%). The patients in the age group of 51-80 years received the majority of PRBCs and FFPs. Patients aged 21-40 and 61-70 yrs had the highest transfusion rates for PLT. Elderly female patients (57.4%) received more blood products than their male counterparts. The highest blood transfusion rates were among patients with neoplasms, anemia, gastrointestinal bleeding, and gastric diseases.</p><p><strong>Conclusion: </strong>The primary Iranian blood recipients were elderly patients. Population aging is associated with an increase in the number of blood recipients and simultaneously declines the blood donors pool. It highlights the need for optimizing the use of blood in hospitals and having better strategies for overcoming the shortage of blood.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"44-52"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017592/pdf/ajbr0013-0044.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Higher baseline natural killer cell counts are associated with a lower 8-day blast count and lower day 33 minimal residual disease in children with pediatric B-acute lymphoblastic leukemia. 儿童b急性淋巴细胞白血病患儿较高的基线自然杀伤细胞计数与较低的8天细胞计数和较低的33天最小残留病相关。
American journal of blood research Pub Date : 2023-01-01
Nikita Sharma, Richa Gupta, Mrinalini Kotru, Sunil Gomber, Harsh Vardhan Gautam
{"title":"Higher baseline natural killer cell counts are associated with a lower 8-day blast count and lower day 33 minimal residual disease in children with pediatric B-acute lymphoblastic leukemia.","authors":"Nikita Sharma,&nbsp;Richa Gupta,&nbsp;Mrinalini Kotru,&nbsp;Sunil Gomber,&nbsp;Harsh Vardhan Gautam","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Acute lymphoblastic leukemia (ALL) is the most common malignancy in children. Despite advancements in treatment, a significant proportion of children relapse. Recently, immunotherapy has gained momentum and is becoming popular, especially for relapsed and refractory cases. NK cells are an important part of tumor immunity and are involved in the direct killing of tumor cells. Their role in B-ALL has not been explored. Therefore, this study was conducted to correlate the number of NK cells with standard prognostic parameters in B-ALL.</p><p><strong>Methods: </strong>25 subjects with newly diagnosed B-ALL between 0-14 years were recruited for the study from Pediatric OPD or emergency of the hospital. Along with a complete hemogram and peripheral smear examination, immunophenotyping by flow cytometry was done at the time of diagnosis for NK cell enumeration. The number of NK cells was correlated with standard prognostic parameters using the spearman correlation coefficient.</p><p><strong>Results: </strong>Baseline NK cell percentage demonstrated a significant negative correlation with Prednisone poor day 8 blast response (<i>P</i> value = 0.02, r value = -0.44) and positive MRD (<i>P</i> value = 0.01, r value = -0.49) at day 33. A negative correlation was also noticed between NK cell percentage and unfavorable cytogenetics (hypodiploidy), although it was not significant (<i>P</i> value = 0.06, r value = -0.38). The number of NK cells did not correlate with age, gender and WBC count. Therefore, evaluating NK cells at diagnosis may serve as a simple and useful parameter for prognostication and risk stratification.</p><p><strong>Conclusion: </strong>It may be assumed that a higher percentage of NK cells is associated with improved outcomes and probably a better prognosis. NK numbers may serve as an early independent parameter predicting prognosis and survival in children with B-ALL, thus helping to decide individual therapeutic regimens.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"53-60"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017591/pdf/ajbr0013-0053.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9515043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pattern and predictors of mortality among inborn and out born neonates on ventilatory support: an unmatched case-control study. 使用呼吸机支持的出生和出生新生儿死亡率的模式和预测因素:一项无与伦比的病例对照研究。
American journal of blood research Pub Date : 2023-01-01
Manoj Kumar, Swati, Bijit Biswas, Avinash Kumar, Anjali Kumari, Rajan Kumar
{"title":"Pattern and predictors of mortality among inborn and out born neonates on ventilatory support: an unmatched case-control study.","authors":"Manoj Kumar,&nbsp;Swati,&nbsp;Bijit Biswas,&nbsp;Avinash Kumar,&nbsp;Anjali Kumari,&nbsp;Rajan Kumar","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Limited literature was available on the pattern and determinants of mortality among inborn neonates in comparison to the out born ones. The study's goal was to investigate the patterns and risk factors for mortality among hospitalised, on-ventilator inborn and out born neonates.</p><p><strong>Materials and methods: </strong>It was an unmatched, case-control, pilot study conducted between January and December 2020 using information retrieved from the medical records of patients attending the neonatal intensive care unit (NICU) of a tertiary healthcare facility, namely Narayan Medical College & Hospital, situated in eastern India.</p><p><strong>Results: </strong>Congenital pneumonia was the leading cause of death in inborn neonates, with an overall mortality rate of 33.4%. Meanwhile, the overall fatality rate for out born neonates was found to be 43.3%, with birth hypoxia being the most common cause. The only significant attribute affecting mortality in inborn neonates was low arterial blood gas (ABG) pH, whereas in out born neonates they were prematurity, thrombocytopenia, low ABG pO<sub>2</sub>, and high pCO<sub>2</sub>. Overall, new-borns with thrombocytopenia, low ABG pO<sub>2</sub>, and high pCO<sub>2</sub> were observed to be at higher risk for mortality compared to others.</p><p><strong>Conclusion: </strong>The mortality rate of out born neonates was higher than inborn ones. The attributes affecting mortality were observed to be prematurity, thrombocytopenia, low ABG pH, pO<sub>2</sub>, and high pCO<sub>2</sub>.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 2","pages":"71-76"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195313/pdf/ajbr0013-0071.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9858414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Therapy related AML in a case of chronic lymphocytic leukemia. 慢性淋巴细胞白血病治疗相关性急性髓性白血病1例。
American journal of blood research Pub Date : 2023-01-01
Smeeta Gajendra, Bhawna Jha, Rashi Sharma
{"title":"Therapy related AML in a case of chronic lymphocytic leukemia.","authors":"Smeeta Gajendra,&nbsp;Bhawna Jha,&nbsp;Rashi Sharma","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In comparison to the general population, patients with chronic lymphocytic leukemia (CLL) are at a higher risk of developing secondary malignancies. Several factors may contribute to pathogenesis, including direct effects of chemotherapy and radiation as well as the reduction of immune surveillance. Factors influencing the increased risk include the increasing age of CLL patients, chronic antigenic stimulation, and immune impairment related to CLL or chemotherapy. Compared to patients with acute myeloid leukemia (AML) that developed from de novo, therapy-related AML (t-AML) has had a poorer outcome. The range of cytogenetic abnormalities in therapy-related AML is comparable to that in de novo AML, although these patients have a significantly higher frequency of unfavourable cytogenetics, such as a complex karyotype or a deletion or loss of chromosomes 5 and/or 7. Herein, we describe a case of therapy-related AML with monocytic differentiation and t(8;16) with a residual CLL population. The aim of the present case is to highlight rare occurrence of therapy related AML with t(8;16) in CLL after fluderabine based chemotherapy (FCR: fludarabine, cyclophosphamide, and rituximab). This case also highlights flowcytometric immunophenotyping as an ideal tool to characterize secondary AML along with the identification of minimal residual disease of CLL clone, which could have ignored at t-AML diagnosis. The pathogenesis of myeloid and lymphoid malignancies as well as their co-existence can be studied by focusing on such patients. Factors predisposing to the development of t-AML should be studied further, which would help in monitoring these patients more carefully.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 2","pages":"77-83"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195314/pdf/ajbr0013-0077.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9858415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute myeloid leukemia: novel mutations and their clinical implications. 急性髓性白血病:新的突变及其临床意义。
American journal of blood research Pub Date : 2023-01-01
Harshita Makkar, Ravi Kumar Majhi, Harsh Goel, Aditya Kumar Gupta, Anita Chopra, Pranay Tanwar, Rachna Seth
{"title":"Acute myeloid leukemia: novel mutations and their clinical implications.","authors":"Harshita Makkar,&nbsp;Ravi Kumar Majhi,&nbsp;Harsh Goel,&nbsp;Aditya Kumar Gupta,&nbsp;Anita Chopra,&nbsp;Pranay Tanwar,&nbsp;Rachna Seth","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Acute myeloid leukemia (AML) is a heterogenous and challenging hematological malignancy with suboptimal outcomes. The implications of advanced technologies in the genetic characterization of AML have enhanced the understanding of individualized patient risk, which has also led to the development of new therapeutic strategies. A comprehensive study of novel mutations is essential to moderate the complicacies in patient management and achieve optimal outcomes in AML. In this review, we summarized the clinical relevance of important novel mutations, including <i>TET2, ETV6, SATB1, EZH2, PTPN11,</i> and <i>U2AF1</i>, which impact the prognosis of AML. <i>TET2</i> mutation can lead to DNA hypermethylation, and gene fusion, and mutation in <i>ETV6</i> disrupts hematopoietic transcription machinery, <i>SATB1</i> downregulation aggravates the disease, and <i>EZH2</i> mutation confers resistance to chemotherapy. <i>PTPN11</i> mutation influences the RAS-MAPK signaling pathway, and <i>U2AF1</i> alters the splicing of downstream mRNA. The systemic influence of these mutations has adverse consequences. Therefore, extensive research on novel mutations and their mechanism of action in the pathogenesis of AML is vital. This study lays out the perspective of expanding the apprehension about AML and novel drug targets. The combination of advanced genetic techniques, risk stratification, ongoing improvements, and innovations in treatment strategy will undoubtedly lead to improved survival outcomes in AML.</p>","PeriodicalId":7479,"journal":{"name":"American journal of blood research","volume":"13 1","pages":"12-27"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10017594/pdf/ajbr0013-0012.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expression of long non-coding RNA UCA1 and its clinical relevance in paediatric acute myeloid leukemia. 长链非编码RNA UCA1在小儿急性髓性白血病中的表达及其临床意义。
American journal of blood research Pub Date : 2023-01-01
Christine Wilson, Diwakar Sharma, Priyanka Swaroop, Sachin Kumar, Sameer Bakhshi, Surender K Sharawat
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