Pub Date : 2020-01-05DOI: 10.18502/ijpho.v10i1.2171
K. Goudarzipour, Ahmad Mohammadi, R. Taherian, Mehran Arab Ahmadi, B. Behnam, N. Ayoobi Yazdi
Acute lymphocytic leukemia (ALL) is one of the frequent malignancies in pediatrics and involves bone marrow and extramedullary sites. Proptosis as extramedullary involvement of leukemia usually present in acute and chronic myeloid leukemia. It is extremely rare for ALL to present initially as proptosis.Here, a-21-month-old boy was presented with proptosis without any associated symptoms except lymphadenopathy. He was referred with the impression of malignancy from an ophthalmologist. After bone marrow biopsy which showed 33% blast cells, all positive for CD10, CD19, and CD79, the diagnosis of pre-B cell ALL was finally made. His symptoms were improved completely 16 days after starting standard protocol for ALL.Afterone-year follow-up, he was free of any symptoms.According to this initial presentation of ALL and no typical associated symptoms, it is important to make rapid diagnosis and start the treatment in the childhood.
{"title":"Proptosis as Initial Presentation of Acute Lymphoblastic Leukemia in a Child with no associated symptoms: A Case Report","authors":"K. Goudarzipour, Ahmad Mohammadi, R. Taherian, Mehran Arab Ahmadi, B. Behnam, N. Ayoobi Yazdi","doi":"10.18502/ijpho.v10i1.2171","DOIUrl":"https://doi.org/10.18502/ijpho.v10i1.2171","url":null,"abstract":"Acute lymphocytic leukemia (ALL) is one of the frequent malignancies in pediatrics and involves bone marrow and extramedullary sites. Proptosis as extramedullary involvement of leukemia usually present in acute and chronic myeloid leukemia. It is extremely rare for ALL to present initially as proptosis.Here, a-21-month-old boy was presented with proptosis without any associated symptoms except lymphadenopathy. He was referred with the impression of malignancy from an ophthalmologist. After bone marrow biopsy which showed 33% blast cells, all positive for CD10, CD19, and CD79, the diagnosis of pre-B cell ALL was finally made. His symptoms were improved completely 16 days after starting standard protocol for ALL.Afterone-year follow-up, he was free of any symptoms.According to this initial presentation of ALL and no typical associated symptoms, it is important to make rapid diagnosis and start the treatment in the childhood.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"1 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2020-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68128820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-05DOI: 10.18502/ijpho.v10i1.2168
E. S. Rahmani, M. Fathi, M. Abazari, Hojat Shahraki, Vahid Ziaee Fellow, H. Rahimi, Arshad Hosseini
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is difficult and not always a successful procedure. Besides, the molecular characterization of HLH due to the locus and allelic heterogeneity is a challenging issue. Materials and Methods: In this experimental study, whole exome sequencing (WES) was used for mutation detection in a four-member Iranian family with children suffering from signs and symptoms of HLH disease. Data analysis was performed by using a multi-step in-house WES approach on Linux OS. Result: In this study, a homozygous nucleotide substitution mutation (c.551G>A:p.W184*) was detected in exon number six of the UNC13D gene. W184* drives to a premature stop codon, so produce a truncated protein. This mutation inherited from parents to a four-month female infant with an autosomal recessive pattern. Parents were carrying out the heterozygous form of W184* without any symptoms. The patient showed clinical signs such as fever, diarrhea, hepatosplenomegaly, high level of ferritin, and a positive family history of HLH disease. W184* has a damaging effect on cytotoxic T lymphocytes, and natural killer cells. These two types of immune system cells without a healthy product of the UNC13D gene will be unable to discharge toxic granules into the synaptic space, so the inflammation in the immune response does not disappear. Conclusion: According to this study, WES can be a reliable, fast, and cost-effective approach for the molecular characterization of HLH patients. Plus, WES specific data analysis platform introduced by this study potentially offers a high-speed analysis step. This cost-free platform doesn't require online data submission.
{"title":"Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis","authors":"E. S. Rahmani, M. Fathi, M. Abazari, Hojat Shahraki, Vahid Ziaee Fellow, H. Rahimi, Arshad Hosseini","doi":"10.18502/ijpho.v10i1.2168","DOIUrl":"https://doi.org/10.18502/ijpho.v10i1.2168","url":null,"abstract":"Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is difficult and not always a successful procedure. Besides, the molecular characterization of HLH due to the locus and allelic heterogeneity is a challenging issue. Materials and Methods: In this experimental study, whole exome sequencing (WES) was used for mutation detection in a four-member Iranian family with children suffering from signs and symptoms of HLH disease. Data analysis was performed by using a multi-step in-house WES approach on Linux OS. Result: In this study, a homozygous nucleotide substitution mutation (c.551G>A:p.W184*) was detected in exon number six of the UNC13D gene. W184* drives to a premature stop codon, so produce a truncated protein. This mutation inherited from parents to a four-month female infant with an autosomal recessive pattern. Parents were carrying out the heterozygous form of W184* without any symptoms. The patient showed clinical signs such as fever, diarrhea, hepatosplenomegaly, high level of ferritin, and a positive family history of HLH disease. W184* has a damaging effect on cytotoxic T lymphocytes, and natural killer cells. These two types of immune system cells without a healthy product of the UNC13D gene will be unable to discharge toxic granules into the synaptic space, so the inflammation in the immune response does not disappear. Conclusion: According to this study, WES can be a reliable, fast, and cost-effective approach for the molecular characterization of HLH patients. Plus, WES specific data analysis platform introduced by this study potentially offers a high-speed analysis step. This cost-free platform doesn't require online data submission.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"10 1","pages":"38-48"},"PeriodicalIF":0.3,"publicationDate":"2020-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47379865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-01-05DOI: 10.18502/ijpho.v10i1.2165
S. Zareifar, A. Dashti, Tayebe Masoomzade, M. Anvarinejad, O. Zekavat, M. Bordbar, N. Cohan, S. Haghpanah
Background: Febrile neutropenia is still one of the most important complications of treatment in cancer patients. These patients become prone to infection and consequently higher mortality and morbidity. This study aimed to determine the accuracy of serum procalcitonin (PCT) level in the detection of infection in pediatric cancer patients complicated with febrile neutropenia. Materials and Methods: In this cross-sectional study, all pediatric patients affected by cancer and febrile neutropenia following chemotherapy (n=107) were investigated from August 2014 to August 2015. Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum levels of PCT, as well as blood and urine culture, were evaluated in all patients. Results: The mean age of the patients was 78 ± 55 months (3 214 months), and in terms of gender, 53 patients (49.5%) were male. Overall, 25 patients (23.4%) and 13 patients (12%) showed positive blood and urine culture, respectively. The area under the curve (AUC) receiver operating characteristic (ROC) curve was illustrated to determine how much PCT can couldpredict infection.(AUC =0.74, 95% CI: 0.61-0.87, P<0.001). Considering the cut-off of serum PCT levels as 0.70ng/mL, sensitivity, specificity, and positive and negative predictive valueof PCT were 0.76, 0.744, 0.475, and 0.91, respectively. In addition, PCT showed significant correlations with CRP (rs=0.415, P<0.001) and ESR (rs =0.262, P=0.009). Conclusion: According to the findings of this study, serum PCT levels can be used as a diagnostic test with acceptable sensitivity and specificity and high negative predictive value, but the low positive predictive value in the evaluation of infections in patients affected by cancer and complicated with fever and neutropenia.
{"title":"Assessment of procalcitonin as a diagnostic marker of infection in pediatrics with cancer complicated by fever and neutropenia","authors":"S. Zareifar, A. Dashti, Tayebe Masoomzade, M. Anvarinejad, O. Zekavat, M. Bordbar, N. Cohan, S. Haghpanah","doi":"10.18502/ijpho.v10i1.2165","DOIUrl":"https://doi.org/10.18502/ijpho.v10i1.2165","url":null,"abstract":"Background: Febrile neutropenia is still one of the most important complications of treatment in cancer patients. These patients become prone to infection and consequently higher mortality and morbidity. This study aimed to determine the accuracy of serum procalcitonin (PCT) level in the detection of infection in pediatric cancer patients complicated with febrile neutropenia. Materials and Methods: In this cross-sectional study, all pediatric patients affected by cancer and febrile neutropenia following chemotherapy (n=107) were investigated from August 2014 to August 2015. Erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum levels of PCT, as well as blood and urine culture, were evaluated in all patients. Results: The mean age of the patients was 78 ± 55 months (3 214 months), and in terms of gender, 53 patients (49.5%) were male. Overall, 25 patients (23.4%) and 13 patients (12%) showed positive blood and urine culture, respectively. The area under the curve (AUC) receiver operating characteristic (ROC) curve was illustrated to determine how much PCT can couldpredict infection.(AUC =0.74, 95% CI: 0.61-0.87, P<0.001). Considering the cut-off of serum PCT levels as 0.70ng/mL, sensitivity, specificity, and positive and negative predictive valueof PCT were 0.76, 0.744, 0.475, and 0.91, respectively. In addition, PCT showed significant correlations with CRP (rs=0.415, P<0.001) and ESR (rs =0.262, P=0.009). Conclusion: According to the findings of this study, serum PCT levels can be used as a diagnostic test with acceptable sensitivity and specificity and high negative predictive value, but the low positive predictive value in the evaluation of infections in patients affected by cancer and complicated with fever and neutropenia.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"10 1","pages":"10-16"},"PeriodicalIF":0.3,"publicationDate":"2020-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47472330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1569
S. Yousefian, A. Moafi, M. Khalilian
Background: Malignant disorder with B or T stem cell basis leads to development and continuation of acute lymphoblastic leukemia (ALL) due to aggregation of blast cells in bone marrow. The environmental, genetic, and demographic factors may influence the disease relapse. The objective of this study was to assess the relation between end of induction minimal residual disease and different risk factors in patients with ALL. Materials and Methods: This analytic-descriptive study consisted of 91 patients with ALL who referred to Seyed Alshohada Hospital, Isfahan, Iran. The mean age of the patients was 4.91 3.07 years old. The patients were assessed in terms of demographic characteristics, socioeconomic status, and treatment protocol. Their treatment began with Prednisolon, Dexamethason, Vincristine, L-Asparginase (L.APS) or (PEG-ASP), and Anthracycline for 28 days. Then, the end of induction minimal residual disease was assessed in each patient. For data analysis, Spierman, Mann Whitney, and Kruskal wallis tests were applied. Results: The monthly income level of the patients' families were poor, and we found a significant correlation between monthly income level of the patients' families and the incidence of minimal residual disease (P=0.03). None of the studied factors, including age, the mean of white blood cell count in the first complete blood count, hemoglobin level, platelet level, gender, central nervous system, mediastinal mass, splenomegaly, hepatomegaly, translocation, parents' education, and parents' occupation and response to corticosteroid treatment that might have had not any impacts on the studied disease(p>0.05). Conclusion: In this study, it was found that assessing the effect of risk factors on the minimal residual disease in patients with leukemia could be a good solution for detecting and eliminating risk factors and increasing the relapse time.
{"title":"The relation between end of induction minimal residual disease and different risk factors in patients with acute lymphoblastic leukemia","authors":"S. Yousefian, A. Moafi, M. Khalilian","doi":"10.18502/ijpho.v9i4.1569","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1569","url":null,"abstract":"Background: Malignant disorder with B or T stem cell basis leads to development and continuation of acute lymphoblastic leukemia (ALL) due to aggregation of blast cells in bone marrow. The environmental, genetic, and demographic factors may influence the disease relapse. The objective of this study was to assess the relation between end of induction minimal residual disease and different risk factors in patients with ALL. \u0000Materials and Methods: This analytic-descriptive study consisted of 91 patients with ALL who referred to Seyed Alshohada Hospital, Isfahan, Iran. The mean age of the patients was 4.91 3.07 years old. The patients were assessed in terms of demographic characteristics, socioeconomic status, and treatment protocol. Their treatment began with Prednisolon, Dexamethason, Vincristine, L-Asparginase (L.APS) or (PEG-ASP), and Anthracycline for 28 days. Then, the end of induction minimal residual disease was assessed in each patient. For data analysis, Spierman, Mann Whitney, and Kruskal wallis tests were applied. \u0000Results: The monthly income level of the patients' families were poor, and we found a significant correlation between monthly income level of the patients' families and the incidence of minimal residual disease (P=0.03). None of the studied factors, including age, the mean of white blood cell count in the first complete blood count, hemoglobin level, platelet level, gender, central nervous system, mediastinal mass, splenomegaly, hepatomegaly, translocation, parents' education, and parents' occupation and response to corticosteroid treatment that might have had not any impacts on the studied disease(p>0.05). \u0000Conclusion: In this study, it was found that assessing the effect of risk factors on the minimal residual disease in patients with leukemia could be a good solution for detecting and eliminating risk factors and increasing the relapse time.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"3 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87570577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1573
M. Ghanavat, Ali Reza Fazeli varzaneh, N. Reisi
Background: Deferasirox (DFX), Deferoxamine (DFO), and Deferiprone (DFP) are iron chelators that can be used in thalassemic patients with iron overload. Materials and Methods: This clinical trial was performed on 108 thalassemic patients who were randomly divided into group A (n=54) and B (n=54). Group A received combination of DFX and DFP, and group B received DFO and DFP for six months. Serum ferritin level was measured at the beginning of the study, 3, and 6 months after the treatment; The heart and liver iron deposition rates were also measured at the beginning of the study, and 6 months after the treatment in both groups and compared using Magnetic Resonance Imaging T2 plus (MRI T2*). Results: The mean age of patients in group A and B was 17.29±4.3 and 17.89±5.61 years old, respectively. Serum ferritin level significantly reduced after the treatment (Serum ferritin level at baseline, 3, and 6 months after the treatment in Group A: 2476.25±1289.32, 2089.62±1051.64 and 1290.22±724.78 ng/ml, respectively; in Group B: 2044.63±989.82, 1341.30±887.62 and 1229.41±701.22 ng/ml, respectively) (p<0.01, for both groups). MRI T2* heart and liver was also improved at the end of the study in both groups (p<0.01, for both groups). However, the combination of DFO/DFP significantly decreased severity grades of liver iron deposition in comparison to DFX/DFP regimen after six months (p<0.01). Conclusion: The results of the present study indicated that both combination therapies of DFO/DFP and DFX/DFP could improve heart and liver MRI T2*. However, DFO/DFP combination therapy was more effective in reducing the severity grades of liver iron deposition.
{"title":"The Effect of Combination Iron Chelating Agents on Reducing the Severity Grading of Heart and Liver Iron Overload in β-Thalassemia Patients","authors":"M. Ghanavat, Ali Reza Fazeli varzaneh, N. Reisi","doi":"10.18502/ijpho.v9i4.1573","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1573","url":null,"abstract":"Background: Deferasirox (DFX), Deferoxamine (DFO), and Deferiprone (DFP) are iron chelators that can be used in thalassemic patients with iron overload. \u0000Materials and Methods: This clinical trial was performed on 108 thalassemic patients who were randomly divided into group A (n=54) and B (n=54). Group A received combination of DFX and DFP, and group B received DFO and DFP for six months. Serum ferritin level was measured at the beginning of the study, 3, and 6 months after the treatment; The heart and liver iron deposition rates were also measured at the beginning of the study, and 6 months after the treatment in both groups and compared using Magnetic Resonance Imaging T2 plus (MRI T2*). \u0000Results: The mean age of patients in group A and B was 17.29±4.3 and 17.89±5.61 years old, respectively. Serum ferritin level significantly reduced after the treatment (Serum ferritin level at baseline, 3, and 6 months after the treatment in Group A: 2476.25±1289.32, 2089.62±1051.64 and 1290.22±724.78 ng/ml, respectively; in Group B: 2044.63±989.82, 1341.30±887.62 and 1229.41±701.22 ng/ml, respectively) (p<0.01, for both groups). MRI T2* heart and liver was also improved at the end of the study in both groups (p<0.01, for both groups). However, the combination of DFO/DFP significantly decreased severity grades of liver iron deposition in comparison to DFX/DFP regimen after six months (p<0.01). \u0000Conclusion: The results of the present study indicated that both combination therapies of DFO/DFP and DFX/DFP could improve heart and liver MRI T2*. However, DFO/DFP combination therapy was more effective in reducing the severity grades of liver iron deposition. ","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"2 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75471527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1577
Kimberly Fe Joibi, Salfarina Ibrahim, Nor Fadhilah Shafii, S. M. Jusoh, R. Mustaffa, M. F. Johan, W. Abdullah
Biologically, Acute myeloid leukemia (AML) is highly heterogenous. AML with cup-like blast morphology variant has been reported to have important role in risk group stratification and treatment implications. In pediatric age group, this morphology and its clinical implication is rarely discussed. Although this morphology variant is not stated in World Health Organization (WHO) classification of Tumours of Haematopoietic and Lymphoid Tissues, it is associated with poor outcome from the association with other features. A 10- year old girl diagnosed to have AML with this morphology variant is reported in this study. Her laboratory features were hyperleucocytosis, high D-dimer, and blasts morphology of cup-like cells and few mimic the bilobed features of acute promyelocytic leukemia (APML). Further investigation showed clinical and laboratory features similar to what had been reported before in adults, including the presence of adverse marker of Fms-like tyrosine kinase 3 (FLT3) mutation. She was treated with chemotherapy, following which the bone marrow examination documented marrow in remission. Unfortunately, she succumbed to the disease complication from sepsis and marrow failure after few months of diagnosis. Haemato-morphologists might consider this unique morphological recognition and correlate it with other findings, including molecular testing for proper clinical evaluation. The blast feature and haematological findings could predict the clinical behaviour of this type of AML and guide the patient management. This morphological variant serves an important role especially if molecular testing is not available in some parts of the world or at the time of presentation when the result is still pending.
{"title":"Clinical and Laboratory Findings of Cup-Like Nuclei in Blasts with FLT3 Mutation in Pediatric Acute Myeloid Leukemia: A Case Report","authors":"Kimberly Fe Joibi, Salfarina Ibrahim, Nor Fadhilah Shafii, S. M. Jusoh, R. Mustaffa, M. F. Johan, W. Abdullah","doi":"10.18502/ijpho.v9i4.1577","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1577","url":null,"abstract":"Biologically, Acute myeloid leukemia (AML) is highly heterogenous. AML with cup-like blast morphology variant has been reported to have important role in risk group stratification and treatment implications. In pediatric age group, this morphology and its clinical implication is rarely discussed. Although this morphology variant is not stated in World Health Organization (WHO) classification of Tumours of Haematopoietic and Lymphoid Tissues, it is associated with poor outcome from the association with other features. A 10- year old girl diagnosed to have AML with this morphology variant is reported in this study. Her laboratory features were hyperleucocytosis, high D-dimer, and blasts morphology of cup-like cells and few mimic the bilobed features of acute promyelocytic leukemia (APML). Further investigation showed clinical and laboratory features similar to what had been reported before in adults, including the presence of adverse marker of Fms-like tyrosine kinase 3 (FLT3) mutation. She was treated with chemotherapy, following which the bone marrow examination documented marrow in remission. Unfortunately, she succumbed to the disease complication from sepsis and marrow failure after few months of diagnosis. Haemato-morphologists might consider this unique morphological recognition and correlate it with other findings, including molecular testing for proper clinical evaluation. The blast feature and haematological findings could predict the clinical behaviour of this type of AML and guide the patient management. This morphological variant serves an important role especially if molecular testing is not available in some parts of the world or at the time of presentation when the result is still pending.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"9 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84295796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1575
M. Hashemieh
Advances in the management of transfusion dependent thalassemic patients have improved the survival of these patients. The most important consequence of repeated and frequent transfusions is iron accumulation in vital organs. The magnetic resonance imaging (MRI) is a non-invasive and valid technique for the estimation of iron stores. Despite multiple studies about cardiac and liver MRI T2*, there is limited experience about pancreatic MRI. Although there is a weak correlation between hepatic and pancreatic siderosis, MRI assessment of iron deposition in the pancreas can reduce cardiac morbidity. Pancreatic siderosis may be a predictor for the development of glucose dysregulation. Pancreatic R2* > 100 Hz is a risk factor for glucose intolerance or even overt diabetes. Splenectomy can accentuate the pancreatic iron overload. Early intensive chelation therapy in thalassemia patients can reverse glucose metabolism impairment. In this review, the MRI assessment of pancreatic iron overload in transfusion dependent thalassemia, the correlation between pancreas with liver and myocardial hemosiderosis and the importance of pancreatic iron overload in pathogenesis of diabetes mellitus in these patients were discussed.
{"title":"Assessment of Pancreatic Iron Overload in Transfusion Dependent Thalassemic Patients","authors":"M. Hashemieh","doi":"10.18502/ijpho.v9i4.1575","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1575","url":null,"abstract":"Advances in the management of transfusion dependent thalassemic patients have improved the survival of these patients. The most important consequence of repeated and frequent transfusions is iron accumulation in vital organs. The magnetic resonance imaging (MRI) is a non-invasive and valid technique for the estimation of iron stores. Despite multiple studies about cardiac and liver MRI T2*, there is limited experience about pancreatic MRI. Although there is a weak correlation between hepatic and pancreatic siderosis, MRI assessment of iron deposition in the pancreas can reduce cardiac morbidity. Pancreatic siderosis may be a predictor for the development of glucose dysregulation. Pancreatic R2* > 100 Hz is a risk factor for glucose intolerance or even overt diabetes. Splenectomy can accentuate the pancreatic iron overload. Early intensive chelation therapy in thalassemia patients can reverse glucose metabolism impairment. In this review, the MRI assessment of pancreatic iron overload in transfusion dependent thalassemia, the correlation between pancreas with liver and myocardial hemosiderosis and the importance of pancreatic iron overload in pathogenesis of diabetes mellitus in these patients were discussed.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"50 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73524943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1570
M. Sanaei, F. Kavoosi, M. Mohammadi, Maryam Khanezad
Background: Mammalian cell division is regulated by a complex includes cyclin-dependent kinases (Cdks) and cyclins, Cdk/cyclin complex. The activity of the complex is regulated by Cdk inhibitors (CKIs) compressing CDK4 (INK4) and CDK-interacting protein/kinase inhibitory protein (CIP/KIP) family. Hypermethylation of CKIs has been reported in various cancers. DNA methyltransferase inhibitors (DNMTIs), such as decitabine and 5-aza-2′-deoxycytidine (5-aza-CdR) can reactivate hypermethylated genes. The current study aimed to evaluate the effect of 5-aza-CdR on the expression of p16INK4a, p14ARF, p15INK4b genes, cell viability, and apoptosis in HCC PLC/PRF5 and pancreatic cancer MIA Paca-2 cell lines. Materials and Methods: In this laboratory trial, both cell lines were treated with 5-aza-CdR (0, 1, 2.5, 5, 10, 15, and 20 μM) to determine cell viability and then with 3 μM to obtain cell apoptosis and relative gene expression. The cell viability, apoptosis, and genes expression were investigated by 3-[4, 5-dimethylthiazol-2-yl]-2, 5 diphenyl tetrazolium bromide (MTT) assay, flow cytometry, and Real-Time quantitative reverse-transcription polymerase chain reaction (qRT-PCR), respectively. Results: 5-aza-CdR indicated significant inhibitory effect with all used concentrations (P = 0.003). The apoptotic effect of 5-aza-CdR on PLC/PRF5 cells in comparison to pancreatic cancer MIA Paca-2 cells was more significant (P= 0.001). Real-time quantitative PCR analysis revealed that treatment with 5-aza-CdR (3 μM) for 24 and 48h up-regulated p16INK4a, p14ARF, p15INK4b genes expression significantly(P=0.040). Conclusion: Reactivation of p16INK4a, p14ARF, p15INK4b genes by 5-aza-CdR can induce apoptosis and inhibit cell viability in HCC, PLC/PRF5, and pancreatic cancer, MIA Paca-2, cell lines.
{"title":"Effect of 5-aza-2′-deoxycytidine on p16INK4a, p14ARF, p15INK4b Genes Expression, Cell Viability, and Apoptosis in PLC/PRF5 and MIA Paca-2 Cell Lines","authors":"M. Sanaei, F. Kavoosi, M. Mohammadi, Maryam Khanezad","doi":"10.18502/ijpho.v9i4.1570","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1570","url":null,"abstract":"Background: Mammalian cell division is regulated by a complex includes cyclin-dependent kinases (Cdks) and cyclins, Cdk/cyclin complex. The activity of the complex is regulated by Cdk inhibitors (CKIs) compressing CDK4 (INK4) and CDK-interacting protein/kinase inhibitory protein (CIP/KIP) family. Hypermethylation of CKIs has been reported in various cancers. DNA methyltransferase inhibitors (DNMTIs), such as decitabine and 5-aza-2′-deoxycytidine (5-aza-CdR) can reactivate hypermethylated genes. The current study aimed to evaluate the effect of 5-aza-CdR on the expression of p16INK4a, p14ARF, p15INK4b genes, cell viability, and apoptosis in HCC PLC/PRF5 and pancreatic cancer MIA Paca-2 cell lines. \u0000Materials and Methods: In this laboratory trial, both cell lines were treated with 5-aza-CdR (0, 1, 2.5, 5, 10, 15, and 20 μM) to determine cell viability and then with 3 μM to obtain cell apoptosis and relative gene expression. The cell viability, apoptosis, and genes expression were investigated by 3-[4, 5-dimethylthiazol-2-yl]-2, 5 diphenyl tetrazolium bromide (MTT) assay, flow cytometry, and Real-Time quantitative reverse-transcription polymerase chain reaction (qRT-PCR), respectively. \u0000Results: 5-aza-CdR indicated significant inhibitory effect with all used concentrations (P = 0.003). The apoptotic effect of 5-aza-CdR on PLC/PRF5 cells in comparison to pancreatic cancer MIA Paca-2 cells was more significant (P= 0.001). Real-time quantitative PCR analysis revealed that treatment with 5-aza-CdR (3 μM) for 24 and 48h up-regulated p16INK4a, p14ARF, p15INK4b genes expression significantly(P=0.040). \u0000Conclusion: Reactivation of p16INK4a, p14ARF, p15INK4b genes by 5-aza-CdR can induce apoptosis and inhibit cell viability in HCC, PLC/PRF5, and pancreatic cancer, MIA Paca-2, cell lines.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"58 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84749824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1574
M. Ahmadi, M. Rassouli, Mahin Gheibizadeh, M. Karami, S. Poormansouri
Background: Cancer is one of the most common diseases in children. Cancer in children can cause many problems for parents, and impose heavy care burden on them, which can lead to negative health consequences. The aim of this study was to determine caregiving burden and relevant influential factors among parents of children with cancer. Materials and Methods: This cross-sectional descriptive study was done on 125 parents of children with cancer in oncology department of Shohada Hospital, Tehran, Iran, during March to August 2017. Caregiving burden was measured using the Caregiver Burden Scale. Descriptive statistics, independent-samples T test, one-way ANOVA, Pearson’s correlation analysis, and multivariate linear regression analysis (stepwise method) were used in data analysis with SPSS software (v.19). Results: The mean score of parents’ care burden was 52.76 ± 10. Moreover, 17.6%, 71.2% and 11.2% of parents had low, moderate, and high care burden, respectively. Regression analyses indicated that the factors associated with care burden were cancer type (Acute myeloid leukemia (β=0.36, p<0.001) and Ewing sarcoma (β=0.16, p=0.007)), the number of hospitalization (β=0.38, p<0.001), duration of disease (β=-0.31, p<0.001), parent’s age (β=-0.29, p<0.001), parent’s income (β=-0.23, p<0.001), and child’s age (β=0.24, p<0.001). These variables accounted for 65% of the variance in care burden. Conclusion: The result of this study demonstrated that most of parents of children with cancer had moderate levels of care burden. Different variables increased care burden in parents. Therefore, planning for holistic interventions to reduce care burden in parents and improve quality of care is necessary.
{"title":"Predictors of Caregiver Burden among Parents of Children with Cancer","authors":"M. Ahmadi, M. Rassouli, Mahin Gheibizadeh, M. Karami, S. Poormansouri","doi":"10.18502/ijpho.v9i4.1574","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1574","url":null,"abstract":"Background: Cancer is one of the most common diseases in children. Cancer in children can cause many problems for parents, and impose heavy care burden on them, which can lead to negative health consequences. The aim of this study was to determine caregiving burden and relevant influential factors among parents of children with cancer. \u0000Materials and Methods: This cross-sectional descriptive study was done on 125 parents of children with cancer in oncology department of Shohada Hospital, Tehran, Iran, during March to August 2017. Caregiving burden was measured using the Caregiver Burden Scale. Descriptive statistics, independent-samples T test, one-way ANOVA, Pearson’s correlation analysis, and multivariate linear regression analysis (stepwise method) were used in data analysis with SPSS software (v.19). \u0000Results: The mean score of parents’ care burden was 52.76 ± 10. Moreover, 17.6%, 71.2% and 11.2% of parents had low, moderate, and high care burden, respectively. Regression analyses indicated that the factors associated with care burden were cancer type (Acute myeloid leukemia (β=0.36, p<0.001) and Ewing sarcoma (β=0.16, p=0.007)), the number of hospitalization (β=0.38, p<0.001), duration of disease (β=-0.31, p<0.001), parent’s age (β=-0.29, p<0.001), parent’s income (β=-0.23, p<0.001), and child’s age (β=0.24, p<0.001). These variables accounted for 65% of the variance in care burden. \u0000Conclusion: The result of this study demonstrated that most of parents of children with cancer had moderate levels of care burden. Different variables increased care burden in parents. Therefore, planning for holistic interventions to reduce care burden in parents and improve quality of care is necessary.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"7 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91190470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-10-10DOI: 10.18502/ijpho.v9i4.1571
Mohammad Yahya Vahidi Mehrjardi, Seyed Mohsen Aghaei Zarch, M. Dehghani
Background: HOX genes are an exceedingly preserved family of homeodomain-involving transcription factors. They are related to a number of malignancies, comprising acute myeloid leukemia (AML). This study aimed to evaluate the effect of HOXB1 7bp deletion mutation on HOXB1gene expression in 36 individuals. Materials and Methods: The present cross-sectional study was done on a large Iranian family. In this experimental study, 5 homozygous 7bp deletion individuals along with their unaffected siblings and their parents were investigated. The candidate gene, HOXB1 was screened and analyzed in blood samples of these participants. After RNA extraction, cDNA was synthesized according to manufacturer’s protocol. HOXB1 expression level was analyzed by 2ΔΔCT method. All laboratory procedures used in this experimental study were carried out in genetic laboratory of Shahid Sadoughi University of Medical Sciences. Results: Sequence analysis of HOXB1 gene by ABI Prism 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) revealed a family with 5 homozygous (22±17 years) and 22 healthy heterozygous carriers (42±19 years) for 7bp deletion in HOXB1 gene along with 9 healthy wild type (55±41 years). Gene expression analysis by RT-qPCR demonstrated that expression level of HOXB1 gene in wild type and heterozygous carriers specimens had similar levels (p=0.05). Conclusion: Although HOXB1 mutations has been reported in AML, but association between HOXB1 mutation and AML was not found in our study. Additionally, HOXB1 expression levels showed no significant difference between wild type and heterozygous carriers. So, HOXB1 gene expression cannot provide a powerful tool to differentiate wild type from heterozygous carries.
背景:HOX基因是一个保存非常完好的同源结构域相关转录因子家族。它们与许多恶性肿瘤有关，包括急性髓性白血病(AML)。本研究旨在评价HOXB1 7bp缺失突变对36例个体HOXB1基因表达的影响。材料和方法:本横断面研究是在一个伊朗大家庭中进行的。本实验研究了5个纯合子7bp缺失个体及其未受影响的兄弟姐妹和父母。候选基因HOXB1在这些参与者的血液样本中被筛选和分析。提取RNA后，按照厂商方案合成cDNA。2ΔΔCT法分析HOXB1表达水平。本实验研究中使用的所有实验室程序均在Shahid Sadoughi医科大学遗传实验室进行。结果:使用ABI Prism 3130基因分析仪(Applied Biosystems, Foster City, CA, USA)对HOXB1基因进行序列分析，发现该家族有5个纯合子(22±17岁)和22个健康杂合子(42±19岁)，HOXB1基因缺失7bp, 9个健康野生型(55±41岁)。RT-qPCR基因表达分析显示，野生型和杂合携带者标本中HOXB1基因表达水平相近(p=0.05)。结论:虽然在AML中有HOXB1突变的报道，但在我们的研究中没有发现HOXB1突变与AML的相关性。此外，HOXB1表达水平在野生型和杂合型携带者之间无显著差异。因此，HOXB1基因表达不能作为区分野生型和杂合型的有力工具。
{"title":"The Relationship between Mutation in HOXB1 Gene and Acute Myeloid Leukemia","authors":"Mohammad Yahya Vahidi Mehrjardi, Seyed Mohsen Aghaei Zarch, M. Dehghani","doi":"10.18502/ijpho.v9i4.1571","DOIUrl":"https://doi.org/10.18502/ijpho.v9i4.1571","url":null,"abstract":"Background: HOX genes are an exceedingly preserved family of homeodomain-involving transcription factors. They are related to a number of malignancies, comprising acute myeloid leukemia (AML). This study aimed to evaluate the effect of HOXB1 7bp deletion mutation on HOXB1gene expression in 36 individuals. \u0000Materials and Methods: The present cross-sectional study was done on a large Iranian family. In this experimental study, 5 homozygous 7bp deletion individuals along with their unaffected siblings and their parents were investigated. The candidate gene, HOXB1 was screened and analyzed in blood samples of these participants. After RNA extraction, cDNA was synthesized according to manufacturer’s protocol. HOXB1 expression level was analyzed by 2ΔΔCT method. All laboratory procedures used in this experimental study were carried out in genetic laboratory of Shahid Sadoughi University of Medical Sciences. \u0000Results: Sequence analysis of HOXB1 gene by ABI Prism 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA) revealed a family with 5 homozygous (22±17 years) and 22 healthy heterozygous carriers (42±19 years) for 7bp deletion in HOXB1 gene along with 9 healthy wild type (55±41 years). Gene expression analysis by RT-qPCR demonstrated that expression level of HOXB1 gene in wild type and heterozygous carriers specimens had similar levels (p=0.05). \u0000Conclusion: Although HOXB1 mutations has been reported in AML, but association between HOXB1 mutation and AML was not found in our study. Additionally, HOXB1 expression levels showed no significant difference between wild type and heterozygous carriers. So, HOXB1 gene expression cannot provide a powerful tool to differentiate wild type from heterozygous carries.","PeriodicalId":44212,"journal":{"name":"Iranian Journal of Pediatric Hematology and Oncology","volume":"559 1","pages":""},"PeriodicalIF":0.3,"publicationDate":"2019-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78035738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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