Current Issue : April - June Volume : 2015 Issue Number : 2 Articles : 9 Articles
Background: Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman Syndrome\nis a rare inherited deficiency of ADAMTS13. Unlike the more common acquired TTP which is characterized by an\nacquired inhibitor of ADAMTS13, patients with congenital TTP have an absolute deficiency of ADAMTS13 without\nan inhibitor. Congenital TTP generally presents in infancy with repeat episodes of acute hemolysis and evidence of\nmicroangiopathy, these episodes are usually triggered by illness or physiological stress. Congenital TTP can be effectively\ntreated with plasma infusion either during acute episodes or on a prophylactic schedule to prevent episodes.\nCase presentation: We present a case of a 25 year old Caucasian woman with no know family history of hematological\ndisorders with congenital TTP. She presented with episodes of hemolysis since infancy, but without clear evidence\nof microangiopathy until the age of 25. At presentation to our center the patient was documented to have\nthrombocytopenia, elevated creatinine, and schistocytes. She was initially treated with plasma infusion at a rate of\n60 ml/hr continuously for a 24 hr period with resolution of her thrombocytopenia and hemolysis. At the time of\nwriting this article she is maintained on a prophylactic schedule of biweekly plasma infusions at 10 mg/kg and is\nmaintaining a normal platelet count with no evidence of hemolysis.\nConclusion: Congenital TTP is a rare condition, and the above case is atypical as the patient did not present with\nclear evidence of microangiopathy until adulthood. Although this a rare condition it is important for physicians to\nbe aware of as it, especially the possibility of atypical presentations, as the condition is potentially fatal and\neffective treatment exists....
Background: Anemia is one of the major public health problems affecting more than half of school-age children in\ndeveloping countries. Anemia among children has been conclusively seen to delay psychomotor development,\npoor cognitive performance, impaired immunity and decrease working capacity. The purpose of this study is to\ndetermine the prevalence and associated factors of anemia among school-age children in Filtu Town, Somali\nregion, Southeast Ethiopia.\nMethods: A community based cross-sectional study was conducted from July to August, 2013 in Filtu Town. A\ntotal of 355 school-age children between 5ââ?¬â??15 years old were included in the study. Socio-demographic data were\nobtained from each participant using structured questionnaire. Hemoglobin concentration was determined by\nHemoCue 201+ photometer (HemoCue, Angelholm, Sweden) analyzer. Hemoglobin values below 11.5 g/dl and\n12 g/dl were considered as anemic for age ranges of 5ââ?¬â??11 and 12ââ?¬â??15 years, respectively. Anthropometric data were\ntaken from each study participant. Peripheral blood film and stool examination were done for hemoparasite and\nintestinal parasite screening, respectively. Data were analyzed using SPSS version 16.0.\nResults: Over all, prevalence of anemia was found to be 23.66%. The vast majority (73.81%) of the anemic children\nhad mild anemia. Moderate and severe anemia accounted for 25% and 1.19% of the anemic children, respectively.\nBeing from a family with low income (AOR = 9.44, 95% CI: 2.88, 30.99), stunted (AOR = 5.50, 95% CI: 2.83, 10.72),\nunderweight (AOR = 2.07, 95% CI: 1.06, 4.05) and having intestinal parasite infection (AOR = 2.99, 95% CI: 1.05, 8.46)\nwere identified as associated factors for anemia.\nConclusion: Anemia is a moderate public health problem in school-age children for the study area. Interventions\ntargeting nutritional deficiencies and parasitic infections are recommende...
Background: The TEMPI syndrome was recently described in 2011, and is characterized by the constellation of five\nhallmarks: Telangiectasias, Erythrocytosis and elevated Erythropoietin, Monoclonal gammopathy, Perinephric fluids\ncollections, and Intrapulmonary shunting. The underlying pathophysiology is unknown, though it has been postulated\nthat the monoclonal gammopathy may play a causal role.\nCase presentation: A 37-year-old non-smoking male presented to our institution with a fever and the sensation of\nfullness in the right flank. His exam was notable for telangiectasias, clubbing of the fingernails, plethora, and a palpable\nbulge in the right flank. Renal ultrasound demonstrated bilateral perinephric fluid collections. Laboratory evaluation\nrevealed erythrocytosis with low serum erythropoietin, and testing for the JAK2V617F mutation was positive, confirming\na diagnosis of polycythemia vera. Though his room air saturation was normal at rest, it decreased dramatically with\nexercise, felt to be secondary to microscopic intrapulmonary shunting.\nThe patient�s presentation is very similar to that of the TEMPI syndrome, a very rare syndrome of which there have\nbeen six published cases. In contrast to the TEMPI syndrome where the erythrocytosis is driven by highly elevated\nserum erythropoietin, our patient was found to have polycythemia vera. Also in contrast to the other patients with\nTEMPI syndrome, our patient did not have an identifiable monoclonal gammopathy.\nOur patient responded to treatment with hydroxyurea. His erythrocytosis, perinephric fluid collections, and\ntelangiectasias resolved over the course of six months. The intrapulmonary shunting has continued to gradually\nimprove with treatment, suggesting that this is an entirely reversible process.\nConclusion: Our case is the first to describe the combination of polycythemia vera, telangiectasias, perinephric fluid\ncollections, and intrapulmonary shunting. The presentation is highly similar to the previously described TEMPI\nsyndrome, though calls into question the potential importance of the monoclonal gammopathy. Our patient\ndemonstrated a response to treatment with hydroxyurea, while patients with the TEMPI syndrome have shown\nresponses to plasma-cell directed therapies such as bortezomib....
Background: We have previously shown that lymphopenia and monocytopenia at 2ââ?¬â??3 months post-allogeneic\nhaematopoietic cell transplant (HCT) is associated with poor survival in recipients of both myeloablative and\nreduced intensity conditioning regimens. It is not known whether the graft leukocyte content has a role in early\nlymphocyte and monocyte recovery following allogeneic T-cell replete peripheral blood HCT.\nMethods: Haematologic recovery data, including absolute lymphocyte and monocyte counts (ALC and AMC,\nrespectively) at day +15, +30, +60, and +100, and outcomes data were pooled from two prior independent cohorts,\nand parameters were correlated with leukocyte graft content in those individuals receiving peripheral blood\nprogenitor cell grafts. 216 consecutive patients from 2001ââ?¬â??2010 were included in the analysis.\nResults: Neither infused allograft lymphocyte, monocyte, granulocyte, nor CD34+ cell number per kilogram\nrecipient body weight correlated with haematologic recovery parameters or overall survival in this cohort.\nPrognostic factors for overall survival based on multivariate analysis were as expected from the results of the\nprevious independent cohorts and included severity of chronic GVHD (p < 0.001), development of post-transplant\nrelapse (p = 0.001), day +60 AMC > 0.3 x 109 cells/L (p = 0.0015), and day +100 ALC > 0.3 x 109 cells/L (p < 0.001).\nLow monocyte and lymphocyte counts at the day +60 and day +100 time points were significantly associated with\nacute GVHD and/or CMV viraemia.\nConclusions: This study suggests that graft cell count does not influence post-transplant monocyte and lymphocyte\nrecovery following T-cell replete allogeneic peripheral blood HCT. Post-transplant complications such as acute\nGVHD and/or CMV viraemia negatively influenced monocyte and lymphocyte recovery, and hence the survival.\nFurther studies aimed at understanding the mechanisms behind sustained lymphopenia and monocytopenia\npost-transplant are needed....
Background: The clinical characteristics of Latin American children enrolled in the International Collaborative\nGaucher Group Gaucher Registry at the time of first enzyme therapy infusion (baseline) were investigated, with\nspecial emphasis on long-term outcomes.\nMethods: Inclusion criteria were all Latin American patients with Gaucher disease type 1 who were <18 years at\nstart of imiglucerase (Genzyme) or alglucerase (Genzyme) therapy. Patients were stratified based on whether they\nhad a confirmed diagnosis of glucocerebrosidase deficiency and clinical findings of anemia, thrombocytopenia,\nhepatomegaly, splenomegaly, bone disease and/or growth retardation at baseline. Patients were evaluated only\nif they had at least one follow-up for a given parameter. Data were analyzed using nonlinear mixed models.\nResults: As of October 2011, 443 patients met inclusion criteria. At diagnosis (n = 443) some children presented\nwith anemia (189/353), thrombocytopenia (199/339), bone pain (88/248) and bone crises (30/242), while most\nchildren reported splenomegaly (volumetric: 55/57; palpation: 204/221), hepatomegaly (volumetric: 32/37; palpation:\n204/230), and radiological evidence of bone disease (107/149). Of those children symptomatic at baseline, 174 had\nanemia, 184 had thrombocytopenia and 129 had mean height Z-scores of < ?2.0. Volumetric evaluations indicate\nhepatomegaly and splenomegaly. After 8 years of treatment, children showed improvements in mean hemoglobin\nlevels, platelet count, liver and spleen volumes, growth, bone pain and bone crises.\nConclusion: Continuous and long-term treatment with imiglucerase improves hematological, visceral and skeletal\nmanifestations of Gaucher disease type 1....
Background: Mast cell leukemia (MCL) is rare type of neoplasia with an incidence of 1% in a large series of 342\nadult patients with systemic mastocytosis (SM). Chronic basophilic leukemia (CBL) is an extremely rare type of\nleukemia with appearance of 7 cases in the literature.\nCase presentation: A 73 year-old female patient who presented with weaknes, had a prolonged duration of\nhematologic remission after treatment of her CBL by hydroxyurea (HU). Evolution of SM occurring as a second\nneoplasia concurrently with relapse of de novo CBL was demonstrated by mast cells (MCs) infiltration in the bone\nmarrow (BM) biopsy and smear and increase in tryptase level. Transformation to MCL with simultaneous occurrance\nof accelerated phase of CBL were documented by the appearance of MCs in both BM and peripheral blood (PB)\nsmears, antigen expressions detected by flow cytometry and spesific stains. Sequence analysis of c-kit gene revealed\nc-kit exon 11 K550N mutation. Undefined associations of MCL with different mast cell morphology, increase in IL-6\nlevel and accelerated phase of de novo CBL was described.\nConclusion: Elevations in CRP and IL-6 levels occurring with increases in basophil counts to high levels revealed\nthat febrile episodes with abdominal pain seen in our patient were induced by increase in IL-6 levels released from\nneoplastic basophils. Neoplastic basophils with diffuse and coarse basophilic granules possibly mimic neutrophils\nwith toxic granules and cause wrong characterization of neoplastic basophils as neutrophils by the automated\nblood cell counters and misleaded physicians....
Background: Abnormal hemograms are common manifestations and important predictive tools for morbidity in\nthe human immunodeficiency virus (HIV) infection. Few studies have been reported on the blood profile of HIV\nantiretroviral therapy (ART) naive subjects, therefore this study aimed to quantitatively and qualitatively describe the\nblood cell profile of HIV ART naive patients, and to describe the occurrence of the blood cytopenias by CD4 cell\ncounts and WHO clinical stage.\nMethods: This cross-sectional study of ART naive HIV patients was done at the Yaounde University Teaching Hospital\n(YUTH). For eligible participants, a structured questionnaire was filled and a clinical examination was done. Blood samples\nwere collected for the measurement of full blood count and CD4 cell count. Blood films were made for the cytological\nexamination of the blood samples and a reticulocyte count was done by the cresyl blue stain method.\nResults: Of 81 cases reviewed, 66 (81.5%) had a blood cell disorder. The main qualitative blood disorders on the blood\nfilm were metamyelocytes (37.1%), toxic neutrophils (33.3%), stab neutrophils (29.6%), anisocytosis (35.6%) hypochromia\n(32.1%) and giant platelets (22.2%). Anaemia (62.9%) was the most common quantitative disorder of which 86.3% had\nlow reticulocyte counts. Participants with low CD4 counts and advanced clinical stages had a greater occurrence of blood\ncytopenias (p-values <0.05).\nConclusion: In the HIV infection, peripheral blood cell abnormalities affect all cell lineages, with anaemia being the most\nfrequent single blood cell abnormality. Blood cytopenias mainly occur in advanced immunosuppression and clinical\nstages. Although all HIV patients may have blood cell disorders, those with advanced disease are more prone to develop\nthem....
Background: Reliable central venous access (CVC) is essential for hematologyââ?¬â??oncology patients since frequent\npuncture of peripheral veinsââ?¬â?e.g., for chemotherapy, antibiotic administration, repeated blood sampling, and\nmonitoringââ?¬â?can cause unacceptable pain and psychological trauma, as well as severe side effects in cases of\nextravasation of chemotherapy drugs. However, CVC lines still carry major risk factors, including thrombosis,\ninfection (e.g., entry site, tunnel, and luminal infections), and catheter dislocation, leakage, or breakage.\nMethods: Here we performed a retrospective database analysis to determine the incidence of CVC-associated\nthrombosis in a single-center cohort of 448 pediatric oncologic patients, and to analyze whether any subgroup of\npatients was at increased risk and thus might benefit from prophylactic anticoagulation.\nResults: Of the 448 patients, 269 consecutive patients received a CVC, and 55 of these 269 patients (20%) also had\na thrombosis. Of these 55 patients, 43 had at least one CVC-associated thrombosis (total number of CVC-associated\nthrombosis: n = 52). Among all patients, the median duration of CVC exposure was 464 days. Regarding exposure\ntime, no significant difference was found between patients with and without CVC-associated thrombosis. Subclavia\ncatheters and advanced tumor stages seem to be the main risk factors for the development of CVC-associated\nthrombosis, whereas pharmacologic prophylaxis did not seem to have a relevant impact on the rate of thrombosis.\nConclusions: We conclude that pediatric surgeons and oncologists should pay close attention to ensuring optimal\nand accurate CVC placement, as this appears the most effective tool to minimize CVC-associated complications....
Background: Patients with sickle cell disease in the USA have been noted to have lower levels of vitamin\nD ââ?¬â?? measured as 25-hydroxyvitamin D (25(OH)D) ââ?¬â?? compared to controls. Average serum 25(OH)D levels are\nalso substantially lower in African Americans than whites, while population distributions of 25(OH)D among\nJamaicans of African descent and West Africans are the same as among USA whites. The purpose of this\nstudy was to examine whether adult patients with sickle cell disease living in tropical regions had reduced\n25(OH)D relative to the general population.\nMethods: We analyzed serum 25(OH)D in stored samples collected from studies in Jamaica and West Africa\nof adult patients with sickle cell disease and adult population controls.\nResults: In samples of 20 Jamaicans and 50 West Africans with sickle cell disease mean values of 25(OH)D\nwere 37% and 39% lower than controls, respectively. Metabolic abnormalities in the absorption and conversion\npathways are possible causes for the consistent relative deficiency of 25(OH)D in sickle cell disease.\nConclusions: Low 25(OH)D levels in tropical Africa where the burden of sickle cell disease is highest, deserve further\ninvestigation, and a randomized trial is warranted to address efficacy of supplementation....
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