Purpose: The present study aimed to describe the characteristics of patients with hematological neoplasms and COVID19, treated in a reference center in Mexico City, as well as their mortality and the factors that could influence it.
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.
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 syndrome. 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. The gene provides instructions for protein synthesis that interfere with the transport of other proteins within the cells. During the growth of red blood cells, the protein produced from the SEC23B gene may help to ensure that proteins are transferred to the required sites. Researchers are trying to determine which mutations in the SEC23B gene lead to symptoms and symptoms of CDA2 syndrome [5] (Figure 4 and 5). The genetic cause of CDA3 syndrome has not yet been determined. This syndrome is probably caused by a mutation in a gene in the long arm of chromosome 15 in the 15q22 region. The genetic changes responsible for the development of CDA syndrome cause disturbances in the normal growth of red blood cells, known as the erythropoiesis process. The term disperitopoietic is a condition in which red blood cells form abnormally. In people with CDA, abnormal red blood cells are called erythroblasts in an unusual form, and other disorders are like additional nuclei. These abnormal Review Article Open Access Journal of Hematology & Thrombosis Avens Publishing Group Inviting Innovations Avens Publishing Group Inviting Innovations Citation: Asadi S. Assessment of Genetics Mutations in Genes CDAN1, SEC23B and Dell-15q22 in Inducate Congenital Dyserythropoietic Anemia Syndrome. J Hematol Thromb 2019;4(1): 3. J Hematol Thromb 4(1): 3 (2019) Page 02 ISSN: 2380-6842 Figure 1: Schematic of the normal range of blood against the anemia range of blood. Figure 2: Schematic of signs and symptoms of anemia in the organs of the body. Figure 3: Human hand image of anemia (left) against healthy human hands (right). Figure 4: Schematic view of Chromosome No. 15 in which the CDAN1 gene is located in the long arm of this chromosome 15q15.2. Figure 5: Schematic view of chromosome number 20 where SEC23B gene is based on the short arm of this chromosome as 20p11.23. Figure 6: Microscopic images of blood cells with various types of CDA syndrome. Figure 7: Schematic view of Autosomal recessive hereditary pattern followed by CDA1 and CDA2 syndromes. erythroblasts cannot be converted to adult red blood cells. Therefore, deficiency of healthy red blood cells leads to signs and symptoms of anemia, as well as hepatoplasmosis and abnormal iron elevation [6] (Figure 6). CDA1 and CDA2 syndrome follow an autosomal recessive hereditary pattern. Therefore, in order to produce this syndrome, two copies of the mutant gene CDAN1 and SEC23B (one of the father and Citation: Asadi S. Assessment of Genetics Mutations in Genes CDAN1, SEC23B and Dell-15q22 in Inducate Congenital Dyserythropoietic Anemia Syndrome. J Hematol Thromb 2019;4(1): 3. J Hematol Thromb 4(1): 3 (2019) Page 03 ISSN: 2380-6842 the other of the mother) are needed and the chance of having a child with autosomal recessive syndrome is 25% for each pregnancy [7]. CDA3 syndrome follows the dominant autosomal inheritance pattern. Therefore, in order to create this syndrome, a copy of the unrelated mutation gene (parent or parent) is required and the chance of having a child with this syndrome in the dominant autosomal state is 50% for each possible pregnancy [8]. Frequency of congenital diarticular anemia syndrome (CDA) CDA2 syndrome is the most common form of this disorder, and so far, more than 300 cases of CDA2 syndrome have been reported from medical literature throughout the world. A rare CDA3 syndrome is reported in only a few families in Sweden, Argentina and the United States. Frequency of CDA1 syndrome is unknown. Because CDA syndrome is very rare and its signs and symptoms indicate overlap with other disorders, so many cases are unlikely to be diagnosed or indirectly diagnosed as other disorders [9] (Figure 7). Congenital Dysrhythropoietic Anemia Syndrome (CDA) CDA syndrome is diagnosed based on the clinical, clinical and physical findings of the patients and some pathological tests. The most accurate method for detecting this syndrome is the molecular genetic testing of the CDAN1 and SEC23B genes to investigate the presence of possible mutations [10] (Figure 8). Congenital Dysrhythropoietic Anemia Syndrome (CDA) The CDA syndrome treatment and management strategy is symptomatic and supportive. Treatment may be done by a team of experts, including pediatricians, eye specialists, cardiologists, liver specialists, hematologists, dietitians and other healthcare professionals. There is no valid treatment for this syndrome, and all clinical measures are needed to reduce the suffering of the sufferers. Genetic counseling is also a special place for all parents who want a healthy baby [11] (Figure 9). Discussion and Conclusion 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. There is no valid treatment for this syndrome, and all clinical measures are needed to reduce the suffering of the sufferers.
Congenital Dyserythropoietic Anemias are rare congenital disorders of in effective erythropoiesis, are rarely fatal in early childhood.With the advent of safe blood transfusions and iron chelation, individuals with CDA are surviving to reproductive years, and new challenges have surfaced regarding management of women with CDA during pregnancy.We present a case of a 30-year-old woman with a history of CDA and a comorbid hemoglobinopathy resulting in transfusion-dependent anemia and severe iron overload who delivered a baby after a full term pregnancy.The literature about CDA and hemoglobinopathy in pregnancy is not extensive; therefore management of this patient could only be accomplished through consultation with a multidisciplinary group of clinical experts.Our hope is that this case report may serve as a catalyst for further investigation into optimal management of patients with severe anemia and iron overload during gestation.
Chronic neutropenia is a hematological condition that could cause significant morbidity due to recurrent infections.Various benign and malignant disorders manifest with chronic neutropenia and a meticulous evaluation is needed.Complex interplay of several mechanisms could lead to neutropenia in the same patient.Hence it is important to understand the disease biology.Substances with abuse potential like cocaine are thought to cause immune mediated destruction of neutrophils.For disorders like large granular lymphocytic leukemia which arises from chronic antigenic stimulation, it is unclear whether agents like cocaine are potential triggering factors.The given case involves a patient with chronic neutropenia for which a complex interplay of cocaine abuse and large granular lymphocytic leukemia is postulated to be responsible for the clinical manifestation, enhancing the insight about the disease pathogenesis.
A 9 year-old boy with B-cell precursor acute lymphoblastic leukemia developed paralytic ileus and severe abdominal pain during the induction therapy.In spite of fentanyl administration, abdominal pain could not be controlled sufficiently.On 31 st day, he had convulsion and second convulsion with sudden severe visual impairment on 33rd day, although his blood pressure was controlled within normal limit.Magnetic resonance imaging revealed hyperintensity lesions in the bilateral frontal and occipital lobes on T2-weighted images and he was diagnosed as having posterior reversible encephalopathy syndrome.His visual activity returned along with an improvement of paralytic ileus and colic pain.In addition to the control of blood pressure, the management of paralytic ileus and pain control are important for the prevention and treatment of posterior reversible encephalopathy syndrome.
We report a case of Cushing syndrome secondary to adrenal adenoma and the fetus showing nonreactive fetal heart rate pattern on non-stress test some days with general movements (GMs) negative.The tumor was confirmed at 31+5 weeks of pregnancy and removed surgically one month after the birth.The fetus showed nonreactive fetal heart rate pattern on non-stress test for nearly a week and was born by caesarean section at 33+6 weeks of gestation.Five months after birth, the fetus had the test of GMs which was normal.
The newer oral anticoagulants including dabigatran, rivaraxoban, apixaban and edoxaban are replacing warfarin in the management of atrial fibrillation and venous thromboembolism. Accidental and surreptitious overdose of warfarin has been reported, but so far there is no reported case of overdose involving NOACs. Overdose of warfarin prolongs coagulation tests including PT and APTT. This gives a clue as to the underlying cause of bleeding, but with the newer oral anticoagulants these tests are of no value. The diagnosis and management of bleeding with accidental and surreptitious intake of oral anticoagulants is very difficult and high index of suspicion is needed.
causes of PNH granulocytes associated with hypercoagulation, including that through a potential molecule specifically expressed or absent on PNH granulocytes.However, larger studies are needed in order to reach more concrete conclusions.
Sickle cell disease is a congenital autosomal recessive disease. The predominant pathophysiological feature is vaso cclusion, which leads to acute and chronic complications. Multifocal and silent progressive osteonecrosis over the whole skeleton is one of the major complications of this disorder, requiring follow-up, prophylaxis, and treatment. Bone scintigraphy scanning is widely used, relatively inexpensive, well-tolerated, and has an accuracy of over 90%. MRI is the gold standard imaging technique, however, it has a higher specificity than bone scintigraphy, but it may require contrast dye, which could be nephrotoxic, as sickle cell disease nephropathy is a common complication in such patients. For screening purposes and follow-up of bone integrity, a bone scan can detect silent and multifocal osteonecrosis without the need for contrast dye, which makes it a safe and necessary tool for bone complication follow-up before the osteonecrotic asymptomatic joints develop to advance stages without being noticed by the patient.
In this retrospective study; we evaluate the effects of heparin therapy on hexagonal lipid neutralization test. We identified 8000 patients in our hospital system that had been evaluated for lupus anticoagulants. Among these patients we found 100 patients who had been evaluated for lupus anticoagulants while they were on and off unfractionated (UFH) heparin. 23% had positive result of hexagonal lipid neutralization test before receiving heparin while 59% had positive result of hexagonal lipid neutralization test after receiving heparin. We conclude that there is an association between heparin therapy and positive result of hexagonal lipid neutralization test.
Introduction: Hematology reference ranges (HRR) in the third world countries usually based on results of measurements in advanced countries.Our HRR based on UK HRR since more than 5 decades.However, these parameters are affected by several factors including age, ethnicity, gender and environment.The goal of this study is to establish a provisional HRR for Kuwaiti children (CPK-HRR) and compare it with UK children hematology reference range (CUK-HRR). Method:The blood results of 1200 normal child were collected from electronic data of 95,501 children and adults Kuwaiti.The children divided into 8 groups according to age and gender.The range of the RBC, Hb, Hct, MCV, MCH, MCHC, RDW, WBC count, ANC, lymphocyte, monocyte, eosinophil, and basophil counts, PLT count, PMV, were evaluated to generate CPK-HRR. Result:The Kuwaiti children HRR in their early life were insignificantly different from UK children HRR but from the age of 13 years old up to the entire adult life, the differences between the two populations became clearly significant. Conclusion:Kuwaiti pediatric population is different from UK pediatric population in the complete blood count parameters.This study supports the results of our previous adult provisional HRR.Generating regional children HRR is essential for proper diagnosis, treatment, and research work.
Hemophagocytic lymphohistiocytosis (HLH) is a fatal disease, presenting with T cell-induced dysregulated cytokine production, systemic inflammation, and frequently intractable coagulopathy. We have administered recombinant human soluble recombinant thrombomodulin (rTM) for four cases of severe childhood Epstein-Barr virus-associated HLH (EBV-HLH) in combination with anti-inflammatory therapy and had good clinical outcomes. To evaluate its efficacy, we retrospectively compared to the former six cases without rTM administration. The patients were admitted between May 2003 and July 2014. The median age at diagnosis was 8.2 years (range, 1.6-16 years). All patients except for two cases without rTM who received only steroid, were treated with steroid, cyclosporine A (CSP) and/or etoposide based on HLH-94 or HLH-2004. All patients receiving rTM were induced in remission. However, two patients without rTM administration died of disease progression. The values of FDP, D-dimer, serum ferritin, and bilirubin improved better in patients with rTM. In some cases without rTM, serum bilirubin increased even though D-dimer, FDP, and ferritin were decreased. Although further clinical experience is required, rTM may be effective as an adjuvant therapy for resolution of severe EBV-HLH.
Introduction: Hematology reference range provides valuable information for the correct interpretation of results for proper diagnosis and treatment. Previous studies have shown that hematology reference range may vary in people of various continents. Method: From 95,501 subjects a normal 500 females and 500 male Kuwaiti fulfilling the criteria of normal individuals were chosen in this study from October 2012 to March 2013 with no medical follow up required until March 2016 study. The Hb concentration; HCT ratio; RBC count, MCV; MCH; MCHC; red cell distribution width (RDW); WBC count; absolute neutrophil count (ANC); lymphocyte, monocyte, eosinophil, and basophil counts; PLT count; platelet mean volume (PMV) were evaluated and compared with adult UK hematology reference range (AUK-HRR) which our analyzer standardized according to it. Results: The obtained hematology reference range in this study considered the adult provisional Kuwaiti hematology reference range (APK-HRR). The APK-HRR categorized patients with slight microcytic hypochromic anemia and a slightly increased RBC, WBC and platelet count within the normal Kuwaiti population. Conclusion: A significant difference was observed between APKHRR and AUK-HRR when the slight microcytic hypochromic picture and high RBC count in AUK-HRR found within the normal range of APKHRR. The slightly high WBC and platelets count in APK-HRR excluded any infection or underlying disease in Kuwaiti population. The regional factors including ethnicity, genetics, and environment could affect the complete blood count. Standardizing local or regional hematology reference range should be mandatory.
In this retrospective study; we evaluate cardiac disorders and systemic hypertension in JAK2 V617F positive patients. We identified 1000 patients in our hospital system that had been evaluated for JAK2 V617F mutation. Among these patients we found 100 JAK2 V617F positive patients and 100 JAK2 V617F negative patients matched by age and gender. Cardiac disorders were characterized as coronary artery disease (CAD), atrial fibrillation (Afib), heart failure (HF), and myocardial infarction (MI). As well as cardiac disorders and systemic hypertension (HTN), we considered the other thrombotic events such as stroke, deep vein thrombosis (DVT), pulmonary embolism (PE) and peripheral arterial disease (PAD). We conclude that there is an association between JAK2 V617F mutation and HTN, CAD, DVT, PAD, HF and Afib.
In order to assess whether there is discordance in the timing of thrombus resolution between deep vein thrombosis (DVT) and pulmonary embolism (PE), we analyzed current evidence from recent major literature, and evaluated its prognostic implications.After an episode of proximal DVT, residual vein thrombosis (RVT), as shown with ultrasonography, is still detectable in approximately 50% of patients after three months, and in lower proportions afterwards.RVT is likely to represent a marker of hypercoagulability, and is associated with an approximately doubled risk for recurrent thromboembolism, post-thrombotic syndrome, arterial thrombotic events and cancer.Males, individuals with extensive thrombosis and those with previous thromboembolism have the highest likelihood of developing RVT.Conversely, based on recent findings in 85% of patients with PE a full recanalization, as shown by CT scanning, is achieved, and in the remaining patients the thrombotic mass decreases by 80%.No association exists between residual embolism and the risk for recurrent thromboembolism or chronic thromboembolic pulmonary hypertension.Accordingly, repeating CT scanning for prognostic implications does not seem justified.These findings add to the growing perception that DVT and PE are to be regarded as separate pathophysiological entities.
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.
Congenital anomalies such as the defects of inferior vena cava (IVC) are not common, however these alterations obtained from a poor embryo development benefit venous stasis which, in consequence, will trigger a deep vein thrombosis (DVT). This diagnosis must be considered for young patients who have no evident risks of spontaneous and bilateral DVT. We introduce a clinical case of a 39 year-old male with iliofemoral DVT who presented recurring DVT after the withdrawal of anticoagulation, with no other predisposing factor.
Personalized medicine is a rapidly emerging medical model that proposes individually customized healthcare to potentially increase the quality of clinical care and reduce health care costs. The key to the success of personalized medicine is development of diagnostics and therapeutics based upon molecular, genetic, epigenetic, pharmacogenomic and metabolic features of individual patients. Personalized medicine in oncology seeks to individualize cancer care and treatment decisions based upon features unique to each patient and each patient’s tumor. Medical decisions are then being tailored to the individual patient with the hope of providing improved quality-of-life and overall survival. Diagnostic testing is employed to select appropriate and optimal therapies based upon the context of each patient’s genetic content or other molecular or cellular tests. The concept of personalized medicine hopes to not only enhance the patient quality of life and survival but also to lower overall healthcare costs through early-detection, prevention, accurate risk assessments and more efficient health care delivery systems. However, personalized approaches in oncology face major, complex scientific and economic problems. Here, we discuss certain scientific and economic challenges that face the future of personalized medicine in the treatment of hematologic malignancies.
