Mediterranean Journal of Hematology and Infectious Diseases最新文献

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A novel ALAS2 mutation causes congenital sideroblastic anemia 一种新的ALAS2突变导致先天性铁母细胞性贫血
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.062
Kun Yang
{"title":"A novel ALAS2 mutation causes congenital sideroblastic anemia","authors":"Kun Yang","doi":"10.4084/mjhid.2023.062","DOIUrl":"https://doi.org/10.4084/mjhid.2023.062","url":null,"abstract":"","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"19 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136068972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
KINETICS AND ROLE OF PANCREATIC STONE PROTEIN AND MIDREGIONAL PROADRENOMEDULLIN AS PREDICTORS OF SEPSIS AND BACTEREMIA IN CHILDREN WITH HAEMATOLOGICAL MALIGNANCIES. 动力学和胰腺石蛋白和中区域肾上腺髓质素作为血液学恶性肿瘤患儿败血症和菌血症的预测因子。
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.065
Vasiliki Antari, Lemonia Skoura, Athanasios Tragiannidis, Emmanuel Hatzipantelis, Vasiliki-Regina Tsinopoulou, Konstantina Papakonstantinou, Efthimia Protonotariou, Assimina Galli-Tsinopoulou
{"title":"KINETICS AND ROLE OF PANCREATIC STONE PROTEIN AND MIDREGIONAL PROADRENOMEDULLIN AS PREDICTORS OF SEPSIS AND BACTEREMIA IN CHILDREN WITH HAEMATOLOGICAL MALIGNANCIES.","authors":"Vasiliki Antari, Lemonia Skoura, Athanasios Tragiannidis, Emmanuel Hatzipantelis, Vasiliki-Regina Tsinopoulou, Konstantina Papakonstantinou, Efthimia Protonotariou, Assimina Galli-Tsinopoulou","doi":"10.4084/mjhid.2023.065","DOIUrl":"https://doi.org/10.4084/mjhid.2023.065","url":null,"abstract":"Background: To investigate the kinetics and prognostic value of pancreatic stone protein (PSP) and mid-regional proadrenomedullin (MR-proADM) during episodes of febrile neutropenia (FN) in children with haematological malignancies.
 Material and methods: We evaluated prospectively a total of 70 FN episodes in 70 children with acute leukemias and lymphomas. Levels of CRP, PSP and MR-proADM were measured at the onset of the febrile episode (day 1), on day 3 and on day 7. The outcome and survival of children were evaluated during the study period until day 28. The performance of each marker in identifying sepsis or severe sepsis was assessed as area under a receiver operating characteristic (ROC) curve. For each biomarker, ROC curves were used to derive cut-offs for sensitivity and specificity in distinguishing sepsis from non-sepsis.
 Results: During the 2-year study period, 70 febrile neutropenia episodes in 70 children with haematological malignancies were enrolled. Of 70 episodes of febrile neutropenia, in 17 (24%) a bacterial/fungal infection was documented. Criteria for sepsis were fulfilled for 31 (44%) and 7 (10%) patients were admitted to PICU. The median values of all biomarkers were higher on day 1 and differed significantly between patients with and without sepsis. The specificity of PSP, MR-proADM, and CRP were 0.82, 0.70, and 0.57, respectively. The sensitivity of PSP, MR-proADM and CRP were 0.84, 0.74, and 0.88, respectively.
 Conclusions: Both PSP and MR-proADM are promising biomarkers for early diagnosis of sepsis during FN episodes in children with haematological malignancies. PSP has the higher sensitivity and specificity.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"422 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136068976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
LIVER DISEASE & SICKLE CELL DISEASE: AUTOIMMUNE HEPATITIS MORE THAN A COINCIDENCE; A SYSTEMATIC LITERATURE REVIEW. 肝病&;镰状细胞病:自身免疫性肝炎多巧合;系统的文献综述。
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.060
Kelvin Lynch, Andrea Mega, Andrea Piccin, Massimo Daves, Helen Fogarty
{"title":"LIVER DISEASE & SICKLE CELL DISEASE: AUTOIMMUNE HEPATITIS MORE THAN A COINCIDENCE; A SYSTEMATIC LITERATURE REVIEW.","authors":"Kelvin Lynch, Andrea Mega, Andrea Piccin, Massimo Daves, Helen Fogarty","doi":"10.4084/mjhid.2023.060","DOIUrl":"https://doi.org/10.4084/mjhid.2023.060","url":null,"abstract":"In patients with SCD, chronic liver damage is a common manifestation. More than 50% of SCD patients have elevated liver enzymes. Common underlying aetiologies include sickle cell hepatic crisis, viral hepatitis, sickle cell intrahepatic cholestasis and hepatic sequestration in the acute setting, and cholelithiasis and iron overload in the chronic setting. Autoimmune hepatitis (AIH) is a rare disease that appears to occur more commonly in the sickle cell disease (SCD) population than in the general population. There are many schools of thought as to why this is the case, including the phosphatidylserine hypothesis, the heme inflammatory hypothesis, the complement generation hypothesis, and the transfusion alloimmunization hypothesis. Due to the natural history of the two illnesses, SCD is almost always diagnosed first in cases of dual pathology. Symptoms such as jaundice, fatigue, and abdominal pain are common in SCD, as are abnormal liver function tests (LFTs). These abnormalities, attributed to the other more frequent liver involvements in SCD, can lead to delays in AIH diagnosis in this population. Corticosteroids, sometimes with other immunosuppressive agents, such as azathioprine, are the cornerstone of acute AIH treatment (4). However, corticosteroid use in the SCD population has been shown to carry an increased risk of vaso-occlusive crises (1, 5), providing a treatment dilemma. The following is a review of AIH in the SCD population, where we explore the pathophysiology behind the association between the two disorders, discuss an approach to investigating abnormal LFTs in SCD, and examine treatment options in this population with co-existing diseases.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"204 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136069586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Diagnosis and prognosis evaluation of severe pneumonia by lung ultrasound score combined with serum inflammatory markers 肺部超声评分结合血清炎症标志物对重症肺炎的诊断及预后评价
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.057
Bo Fu, Peng Zhang, JunHua Zhang
{"title":"Diagnosis and prognosis evaluation of severe pneumonia by lung ultrasound score combined with serum inflammatory markers","authors":"Bo Fu, Peng Zhang, JunHua Zhang","doi":"10.4084/mjhid.2023.057","DOIUrl":"https://doi.org/10.4084/mjhid.2023.057","url":null,"abstract":"Objective: To analyze the significance of lung ultrasound score (LUS) combined with serum inflammatory indexes in different severities of severe pneumonia and and its clinical value on prognosis.
 Methods: A total of 100 patients with severe pneumonia who were treated in the Gansu Provincial Hospital from June 2017 to June 2021 were selected as the research objects. According to the acute physiology and chronic health (APACHE II) score, they were divided into low-risk group (28 cases) and medium-risk group (39 cases) and high-risk group (33 cases). The general clinical data of the patients (age, gender, smoking history, and underlying diseases) were collected, the lung ultrasound score (LUS) of the patients was measured, and the serum inflammatory indicators (IL-6, IL-10, TNF-α, CRP and NLR) levels; pearson correlation analysis to evaluate the correlation between LUS score, serum inflammatory index levels and disease severity; receiver operating characteristic (ROC) curve analysis to evaluate the prognostic value of the combined diagnosis of LUS score and serum inflammatory index for the severity of severe pneumonia.
 Results: With the increase of the severity of severe pneumonia, the LUS score and the level of inflammation in the body continued to increase, and LUS combined with serum inflammatory indexes could distinguish the severity of low-risk, medium-risk and high-risk of severe pneumonia, and had high diagnostic value. In addition, the combined diagnosis of LUS and serum inflammatory markers is also closely related to the prognosis of patients with severe pneumonia, which can distinguish the prognosis.
 Conclusion: LUS combined with serum inflammatory indicators (IL-6, IL-10, TNF-α, CRP and NLR) can differentiate the severity and prognosis of severe pneumonia, which may be a new direction for the diagnosis of severe pneumonia and guide early clinical intervention.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"75 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136023232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluating the use of meropenem in hematologic patients with febrile neutropenia 评价美罗培南在发热性中性粒细胞减少血液病患者中的应用
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.067
R.A. Stuurman, E. Jong, P.C.R. Godschalk, M.F. Corsten, J.E. Nagtegaal
{"title":"Evaluating the use of meropenem in hematologic patients with febrile neutropenia","authors":"R.A. Stuurman, E. Jong, P.C.R. Godschalk, M.F. Corsten, J.E. Nagtegaal","doi":"10.4084/mjhid.2023.067","DOIUrl":"https://doi.org/10.4084/mjhid.2023.067","url":null,"abstract":"Abstract
 Objectives 
 The Antibiotic Stewardship Team of Meander Medical Centre (Meander MC) instigated a revaluation of its treatment protocol for hematologic patients admitted with febrile neutropenia. The current hospital protocol advises administering meropenem for 72 hours, followed by antibiotic therapy guided by microbiological cultures. In order to responsibly adjust the current empiric regimen, this study aimed to determine the frequency of bacteria resistant to alternative antibiotics, namely ceftazidime and piperacillin/tazobactam, in both surveillance and diagnostic cultures.
 Methods
 This retrospective, observational, single-centre study included adult patients with a hematologic malignancy and febrile neutropenia admitted between October 2018 and June 2021. Collected metadata included patient characteristics, surveillance and diagnostic culture results, and antibiotic use.
 Results
 A total of 100 patients were included. One or more bacteria resistant to ceftazidime or piperacillin/tazobactam were identified in blood and urine cultures in seven (7%) and one (1%) patients respectively.
 Conclusions
 Our results support the safe reduction of the use of meropenem by changing the empiric treatment protocol for patients with hematologic malignancy and febrile neutropenia. As this study showed a lower resistance frequency to piperacillin/tazobactam than to ceftazidime, this antibiotic is the recommended alternative.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136103423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
THERAPY-RELATED MYELOID NEOPLASMS: PREDISPOSITION AND CLONAL EVOLUTION 治疗相关髓系肿瘤:易感性和克隆进化
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.064
Emiliano Fabiani, Giulia Falconi, Antonio Cristiano, H. Hajrullaj, Giulia Falconi, Giuseppe Leone, Maria Teresa Voso
{"title":"THERAPY-RELATED MYELOID NEOPLASMS: PREDISPOSITION AND CLONAL EVOLUTION","authors":"Emiliano Fabiani, Giulia Falconi, Antonio Cristiano, H. Hajrullaj, Giulia Falconi, Giuseppe Leone, Maria Teresa Voso","doi":"10.4084/mjhid.2023.064","DOIUrl":"https://doi.org/10.4084/mjhid.2023.064","url":null,"abstract":"Therapy-related Myeloid Neoplasm (t-MN) represents one of the worst long-term consequences of cytotoxic therapy for primary tumors and autoimmune disease. Poor survival and refractoriness to current treatment strategies characterize affected patients from a clinical point of view. In our aging societies, where newer therapies and ameliorated cancer management protocols are improving the life expectancy of cancer patients, therapy-related Myeloid Neoplasms are an emerging problem. Although several research groups have contributed to characterizing the main risk factors in t-MN development, the multiplicity of primary tumors, in association with the different therapeutic strategies available and the new drugs in development, make interpreting the current data still complex. The main risk factors involved in t-MN pathogenesis can be subgrouped into patient-specific, inherited, and acquired predispositions. Although t-MN can occur at any age, the risk tends to increase with advancing age, and older patients, characterized by a higher number of comorbidities, are more likely to develop the disease. Thanks to the availability of deep sequencing techniques, germline variants have been reported in 15-20% of t-MN patients, highlighting their role in cancer predisposition. It is becoming increasingly evident that t-MN with driver gene mutations may arise in the background of Clonal Hematopoiesis of Indeterminate Potential (CHIP) under the positive selective pressure of chemo and/or radiation therapies. Although CHIP is generally considered benign, it has been associated with an increased risk of t-MN. In this context, the phenomenon of clonal evolution may be described as a dynamic process of expansion of preexisting clones, with or without acquisition of additional genetic alterations, that, by favoring the proliferation of more aggressive and/or resistant clones, may play a crucial role in the progression from preleukemic states to t-MN.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"424 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136068971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A multicenter ICET-A study on age at menarche and menstrual cycles in patients with transfusion-dependent thalassemia (TDT) who started early chelation therapy with different chelating agents 一项多中心ICET-A研究:输血依赖性地中海贫血(TDT)患者早期开始不同螯合剂螯合治疗的月经初潮年龄和月经周期
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.058
SALVATORE DI MAIO, VINCENZO DE SANCTIS, PIERLUIGI MARZUILLO, CHRISTOS KATTAMIS, SHAHINA DAAR, MEHERAN KARIMI, SAKI FOROUGH, ATANAS BANKEV, VALERIA KALEVA, SOTEROULA CHRISTOU, CARMELO FORTUGNO, POLYXENI DELAPORTA, ASHRAF T SOLIMAN, PLOUTARCHOS TZOULIS
{"title":"A multicenter ICET-A study on age at menarche and menstrual cycles in patients with transfusion-dependent thalassemia (TDT) who started early chelation therapy with different chelating agents","authors":"SALVATORE DI MAIO, VINCENZO DE SANCTIS, PIERLUIGI MARZUILLO, CHRISTOS KATTAMIS, SHAHINA DAAR, MEHERAN KARIMI, SAKI FOROUGH, ATANAS BANKEV, VALERIA KALEVA, SOTEROULA CHRISTOU, CARMELO FORTUGNO, POLYXENI DELAPORTA, ASHRAF T SOLIMAN, PLOUTARCHOS TZOULIS","doi":"10.4084/mjhid.2023.058","DOIUrl":"https://doi.org/10.4084/mjhid.2023.058","url":null,"abstract":"Abstract. Objective: To evaluate the age at menarche and menstrual characteristics in patients with transfusion-dependent thalassemia (TDT) who started early chelation therapy (≤ 3 years) with a variety of chelating agents. Design: A retrospective multicenter study promoted by International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescent Medicine (ICET-A). Setting: Eight of 13 International Thalassemia Centers (61.5%) in the ICET-A Network participated. Patients: Fifty-seven female TDT patients, aged 11 to 26 years, were enrolled in the study. Seven patients were excluded, 4 who were still prepubertal (age 12-14 years) and 3 with primary amenorrhea. The remaining 50 patients were from Iran (33 patients), 9 from Bulgaria, 8 from Greece, 4 from Oman, 2 from Cyprus, and 1 from Italy. Results: At start of chelation therapy, 22 patients received desferrioxamine mesylate (DFO), 26 deferasirox (DFX) and 2 deferiprone (DFP). All fifty TDT patients developed spontaneous menarche at a mean age of 14.2 ± 2.24 years (range 9 – 20). A significant positive correlation was observed between age at menarche and serum ferritin (SF) levels (r: 0. 41, P: 0.005). Thirty-two patients (64%) reported regular menstrual cycles, 7 (14 %) oligomenorrhea, 3 (6%) short/light menses (hypomenorrhea), and 8 (16%) secondary amenorrhea (SA) (16%). Conclusions: Early chelation does not necessary correlate with efficient chelation during pubertal age. Delayed menarche, related to high SF levels, was still frequent in most Centers and was a forerunner of irregular menstrual cycles, SA and associated complications. Neglecting the importance of adherence to iron chelation therapy (ICT), despite innovative and expensive therapies, may lead to complications and decreased quality of life.
 
 Key words: Transfusion-dependent thalassemia, menarche, menstrual cycles, iron chelation therapy (ICT), iron overload, adherence to treatment.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"47 ","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136102296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CAR-T CELL THERAPY IN LARGE B CELL LYMPHOMA Car-t细胞治疗大b细胞淋巴瘤
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-30 DOI: 10.4084/mjhid.2023.066
Ugo Testa, Germana Castelli, Giuseppe Leone, Elvira Pelosi, Germana Castelli, Stefan Hohaus
{"title":"CAR-T CELL THERAPY IN LARGE B CELL LYMPHOMA","authors":"Ugo Testa, Germana Castelli, Giuseppe Leone, Elvira Pelosi, Germana Castelli, Stefan Hohaus","doi":"10.4084/mjhid.2023.066","DOIUrl":"https://doi.org/10.4084/mjhid.2023.066","url":null,"abstract":"Large B-cell lymphomas (LBCLs) are among the most frequent (about 30%) non-Hodgkin’s lymphoma. Despite the aggressive behavior of these lymphomas, more than 60% of patients can be cured with first-line chemoimmunotherapy using the R-CHOP regimen. Patients with refractory or relapsing disease show a poor outcome even when treated with second-line therapies.
 CD19-targeted chimeric antigen receptor (CAR) T-cells are emerging as an efficacious second-line treatment strategy for patients with LBCL. Three CD19-CAR-T-cell products received FDA and EMA approval. The use of CAR-T cell therapy has also been explored for the treatment of high-risk LBCL patients in the first-line setting and for patients with central nervous system involvement.
 Although CD19-CAR-T therapy has transformed the care of refractory/relapsed LBCL, about 60% of these patients will ultimately progress or relapse following CD19-CAR-T: therefore, it is fundamental to identify predictive criteria of response to CAR-T therapy and to develop salvage therapies for patients relapsing after CD19-CAR-T therapies. Moreover, ongoing clinical trials are evaluating bispecific CAR-T cells targeting both CD19 and CD20 or CD19 and CD22 as a tool to improve the therapeutic efficacy and to reduce the number of refractory/relapsing patients.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"69 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136022973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NOVEL MUTATIONS IN THE NON-STRUCTURE PROTEIN 2 OF SARS-CoV-2 SARS-CoV-2非结构蛋白2的新突变
4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-10-16 DOI: 10.4084/mjhid.2023.059
Mohsen Nakhaei, Zohreh-Al-Sadat Ghoreshi, Mohammad Rezaei Zadeh Rukerd, Hedyeh Askarpour, None Nasir
{"title":"NOVEL MUTATIONS IN THE NON-STRUCTURE PROTEIN 2 OF SARS-CoV-2","authors":"Mohsen Nakhaei, Zohreh-Al-Sadat Ghoreshi, Mohammad Rezaei Zadeh Rukerd, Hedyeh Askarpour, None Nasir","doi":"10.4084/mjhid.2023.059","DOIUrl":"https://doi.org/10.4084/mjhid.2023.059","url":null,"abstract":"Background: Mutation in the genome of SARS-CoV-2 may play a role in immune evasion, pathogenicity and speed of its transmission. Our investigation aimed to evaluate the mutations that exist in the nsp2.
 Materials and Method: RNA was extracted from nasopharyngeal swabs from 100 COVID-19 patients. RT-PCR was performed on all samples using nsp2 specific primers. Following gel electrophoresis, the bands were cut, purified, and sequenced using Sanger method. After sequencing, 90 sequences could be used for further analysis. Bioinformatics analysis was conducted to investigate the effect of mutations on protein structure, prediction of homology models, phylogeny tree.
 Results: The patients' mean age wa
 Background: Mutation in the genome of SARS-CoV-2 may play a role in immune evasion, pathogenicity and speed of its transmission. Our investigation aimed to evaluate the mutations that exist in the nsp2.
 Materials and Method: RNA was extracted from nasopharyngeal swabs from 100 COVID-19 patients. RT-PCR was performed on all samples using nsp2 specific primers. Following gel electrophoresis, the bands were cut, purified, and sequenced using Sanger method. After sequencing, 90 sequences could be used for further analysis. Bioinformatics analysis was conducted to investigate the effect of mutations on protein structure, prediction of homology models, phylogeny tree.
 Results: The patients' mean age was 51.08. The results revealed that 8 of the 17 nsp2 mutations (R207C, T224I, G262V, T265I, K337D, N348S, G392D, and I431M) were missense. One deletion was also found in nsp2. Among nsp2 missense mutations studied, K337D and G392D increased structural stability while the others decreased it. The homology-designed models demonstrated that the homologies were comparable to the sequences of the Wuhan-HU-1 virus.
 Conclusion: Our study suggested that the mutations as K337D and G392D modulate the stability of nsp2 and tracking viral evolution should be implemented and vaccine development updated.
 s 51.08. The results revealed that 8 of the 17 nsp2 mutations (R207C, T224I, G262V, T265I, K337D, N348S, G392D, and I431M) were missense. One deletion was also found in nsp2. Among nsp2 missense mutations studied, K337D and G392D increased structural stability while the others decreased it. The homology-designed models demonstrated that the homologies were comparable to the sequences of the Wuhan-HU-1 virus.
 Conclusion: Our study suggested that the mutations as K337D and G392D modulate the stability of nsp2 and tracking viral evolution should be implemented and vaccine development updated.","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136183736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
TP53-Mutated Myelodysplasia and Acute Myeloid Leukemia. TP53突变骨髓增生异常和急性髓性白血病
IF 2 4区 医学
Mediterranean Journal of Hematology and Infectious Diseases Pub Date : 2023-07-01 eCollection Date: 2023-01-01 DOI: 10.4084/MJHID.2023.038
Ugo Testa, Germana Castelli, Elvira Pelosi
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