Pub Date : 2020-12-30DOI: 10.13188/2380-6842.1000023
Hepatosplenic T cell lymphoma (HSTL) is a rare, aggressive subtype of extra-nodal lymphoma characterized by hepatosplenic presentation without lymphadenopathy that is typically seen in adolescents and young adults with a male predominance with bone marrow involvement. We present a case of a 55 year old woman with past history of pulmonary embolism, deep venous thrombosis and type II diabetes who complained of diffuse abdominal pain (worst in the LUQ) and lightheadedness. Ultimately, the patient was diagnosed with splenic hematoma and hemoperitoneum. This diagnosis necessitated splenectomy which revealed a markedly enlarged and ruptured spleen. Microscopic analysis with immunohistochemical stains showed a prominent abnormal T-cell population involving the splenic red pulp consistent with HSTL in this patient. Follow-up bone marrow biopsy was negative for involvement. We present this patient’s case due to her unique demographic and the atypical clinical features of her disease including lack of bone marrow presentation.
{"title":"An Atypical Case of Hepatosplenic T Cell Lymphoma","authors":"","doi":"10.13188/2380-6842.1000023","DOIUrl":"https://doi.org/10.13188/2380-6842.1000023","url":null,"abstract":"Hepatosplenic T cell lymphoma (HSTL) is a rare, aggressive subtype of extra-nodal lymphoma characterized by hepatosplenic presentation without lymphadenopathy that is typically seen in adolescents and young adults with a male predominance with bone marrow involvement. We present a case of a 55 year old woman with past history of pulmonary embolism, deep venous thrombosis and type II diabetes who complained of diffuse abdominal pain (worst in the LUQ) and lightheadedness. Ultimately, the patient was diagnosed with splenic hematoma and hemoperitoneum. This diagnosis necessitated splenectomy which revealed a markedly enlarged and ruptured spleen. Microscopic analysis with immunohistochemical stains showed a prominent abnormal T-cell population involving the splenic red pulp consistent with HSTL in this patient. Follow-up bone marrow biopsy was negative for involvement. We present this patient’s case due to her unique demographic and the atypical clinical features of her disease including lack of bone marrow presentation.","PeriodicalId":91317,"journal":{"name":"Journal of hematology & thrombosis","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44904701","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 : 2019-12-30DOI: 10.13188/2380-6842.1000022
S. Asadi
CDA syndrome is a genetic disorder that affects the growth of red blood cells. This syndrome is one of the anemia disorders characterized by a lack of red blood cells. Researchers have identified three types of CDA syndromes, each of which has different genetic causes and patterns of signs and symptoms. Type 1 CDA syndrome is characterized by moderate to severe anemia. CDA1 syndrome is caused by the mutation of the CDAN1 gene, which is based on the long arm of chromosome 15 as 15q15.2. The CDA2 syndrome is caused by the mutation of the SEC23B gene, which is based on the short arm of chromosome number 20, 20p11.23. Generalized Congenital Dysrhythmia Anemia Syndrome (CDA) CDA syndrome is a genetic disorder that affects the growth of red blood cells. This syndrome is one of the anemia disorders characterized by a lack of red blood cells. This deficiency prevents the transfer of oxygen from the blood to the tissues of the body. Symptoms include fatigue, weakness, dullness, and other complications [1] (Figure 1). Clinical Signs of Congenital Dysrhythmia Anemia Syndrome (CDA) Researchers have identified three types of CDA syndromes, each of which has different genetic causes and patterns of signs and symptoms. Type 1 CDA syndrome is characterized by moderate to severe anemia1. This disorder is usually diagnosed in childhood or adolescence, although in some cases the syndrome may also be diagnosed before birth. Many people with CDA1 syndrome experience jaundice in the skin and the white bowel of the eye, and the size of the liver and spleen (hepatosplenomegaly). This disorder also causes excessive iron intake to the body, causing damage to the tissues and organs. In particular, excess iron can lead to abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA1 syndrome are born with skeletal disorders, which often include fingers or toes [2] (Figure 2). Anemia associated with CDA2 syndrome varies from mild to severe, and most people with this disorder, jaundice, enlarged liver and spleen (hepatocellular membranes) and gallstones. CDA2 syndrome is usually diagnosed in adolescence or childhood. Abnormal iron deficiency usually occurs after the age of 20, leading to complications such as heart disease, diabetes and cirrhosis of the liver [3]. Symptoms and Symptoms of CDA3 Syndrome are different from the two previous ones. Adults with CDA3 syndrome have retinal disturbances that can cause visual impairment. Some people with CDA3 syndrome have a blood disorder called monoclonal gomopathy that can lead to white blood cell (multiple myeloma) cancer [4] (Figure 3). Etiometry of Congenital Dysrhythmia Anemia syndrome (CDA) CDA1 syndrome is caused by the mutation of the CDAN1 gene, which is based on the long arm of chromosome 15 as 15q15.2. The function of this gene is still not well understood, and it is unclear how the mutation in this gene leads to the signs and symptoms of CDA1 syndro
{"title":"Assessment of GeneticsMutations in Genes CDAN1, SEC23B and Dell-15q22 in Inducate Congenital Dyserythropoietic Anemia Syndrome","authors":"S. Asadi","doi":"10.13188/2380-6842.1000022","DOIUrl":"https://doi.org/10.13188/2380-6842.1000022","url":null,"abstract":"CDA syndrome is a genetic disorder that affects the growth of red blood cells. This syndrome is one of the anemia disorders characterized by a lack of red blood cells. Researchers have identified three types of CDA syndromes, each of which has different genetic causes and patterns of signs and symptoms. Type 1 CDA syndrome is characterized by moderate to severe anemia. CDA1 syndrome is caused by the mutation of the CDAN1 gene, which is based on the long arm of chromosome 15 as 15q15.2. The CDA2 syndrome is caused by the mutation of the SEC23B gene, which is based on the short arm of chromosome number 20, 20p11.23. Generalized Congenital Dysrhythmia Anemia Syndrome (CDA) CDA syndrome is a genetic disorder that affects the growth of red blood cells. This syndrome is one of the anemia disorders characterized by a lack of red blood cells. This deficiency prevents the transfer of oxygen from the blood to the tissues of the body. Symptoms include fatigue, weakness, dullness, and other complications [1] (Figure 1). Clinical Signs of Congenital Dysrhythmia Anemia Syndrome (CDA) Researchers have identified three types of CDA syndromes, each of which has different genetic causes and patterns of signs and symptoms. Type 1 CDA syndrome is characterized by moderate to severe anemia1. This disorder is usually diagnosed in childhood or adolescence, although in some cases the syndrome may also be diagnosed before birth. Many people with CDA1 syndrome experience jaundice in the skin and the white bowel of the eye, and the size of the liver and spleen (hepatosplenomegaly). This disorder also causes excessive iron intake to the body, causing damage to the tissues and organs. In particular, excess iron can lead to abnormal heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver disease (cirrhosis). Rarely, people with CDA1 syndrome are born with skeletal disorders, which often include fingers or toes [2] (Figure 2). Anemia associated with CDA2 syndrome varies from mild to severe, and most people with this disorder, jaundice, enlarged liver and spleen (hepatocellular membranes) and gallstones. CDA2 syndrome is usually diagnosed in adolescence or childhood. Abnormal iron deficiency usually occurs after the age of 20, leading to complications such as heart disease, diabetes and cirrhosis of the liver [3]. Symptoms and Symptoms of CDA3 Syndrome are different from the two previous ones. Adults with CDA3 syndrome have retinal disturbances that can cause visual impairment. Some people with CDA3 syndrome have a blood disorder called monoclonal gomopathy that can lead to white blood cell (multiple myeloma) cancer [4] (Figure 3). Etiometry of Congenital Dysrhythmia Anemia syndrome (CDA) CDA1 syndrome is caused by the mutation of the CDAN1 gene, which is based on the long arm of chromosome 15 as 15q15.2. The function of this gene is still not well understood, and it is unclear how the mutation in this gene leads to the signs and symptoms of CDA1 syndro","PeriodicalId":91317,"journal":{"name":"Journal of hematology & thrombosis","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41941099","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 : 2015-08-01DOI: 10.13188/2380-6842.1000005
K. Pradhan, Julie A. Mund, J. Case, Samir K. Gupta, Ziyue Liu, W. Gathirua-Mwangi, Anna McDaniel, J. Renbarger, V. Champion
Radiation during childhood cancer treatment increases the propensity to atherosclerotic cardiovascular disease among adult survivors of childhood cancer. This is thought to be mediated through the damage to the underlying vascular endothelium. Endothelial progenitor cells (EPCs) involved in vascular endothelial repair after its damage may be affected by radiation therapy but have never been investigated in adult survivors of childhood cancer. In this pilot study, utilizing multi-parametric flowcytometry, endothelial colony forming cells (ECFCs), which are the bonafide EPCs, and circulating endothelial cells (CECs), which are not EPCs, were compared between adult survivors of childhood cancer with or without radiation exposure. In addition, their associations with blood-pressure, physical activity and diet were examined. Survivors who received radiotherapy had lower ECFCs and CECs (p<0.05) compared to those without it. Significant positive correlations included physical activity with ECFCs and diet with CECs, while blood-pressure negatively correlated with ECFCs. Further evaluation is needed to examine the effect of radiation and modifiable risk factors on ECFCs and CECs. The preliminary findings from this study suggest evidence of the role of ECFCs as biomarkers of vascular injury following treatment for childhood cancer that may help in early identification of survivors at risk for cardiovascular disease.
{"title":"Differences in Circulating Endothelial Progenitor Cells among Childhood Cancer Survivors Treated with and without Radiation","authors":"K. Pradhan, Julie A. Mund, J. Case, Samir K. Gupta, Ziyue Liu, W. Gathirua-Mwangi, Anna McDaniel, J. Renbarger, V. Champion","doi":"10.13188/2380-6842.1000005","DOIUrl":"https://doi.org/10.13188/2380-6842.1000005","url":null,"abstract":"Radiation during childhood cancer treatment increases the propensity to atherosclerotic cardiovascular disease among adult survivors of childhood cancer. This is thought to be mediated through the damage to the underlying vascular endothelium. Endothelial progenitor cells (EPCs) involved in vascular endothelial repair after its damage may be affected by radiation therapy but have never been investigated in adult survivors of childhood cancer. In this pilot study, utilizing multi-parametric flowcytometry, endothelial colony forming cells (ECFCs), which are the bonafide EPCs, and circulating endothelial cells (CECs), which are not EPCs, were compared between adult survivors of childhood cancer with or without radiation exposure. In addition, their associations with blood-pressure, physical activity and diet were examined. Survivors who received radiotherapy had lower ECFCs and CECs (p<0.05) compared to those without it. Significant positive correlations included physical activity with ECFCs and diet with CECs, while blood-pressure negatively correlated with ECFCs. Further evaluation is needed to examine the effect of radiation and modifiable risk factors on ECFCs and CECs. The preliminary findings from this study suggest evidence of the role of ECFCs as biomarkers of vascular injury following treatment for childhood cancer that may help in early identification of survivors at risk for cardiovascular disease.","PeriodicalId":91317,"journal":{"name":"Journal of hematology & thrombosis","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2015-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"66211920","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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