BMC Hematology最新文献

Background: Chromosomal abnormalities are diagnostic and prognostic key factors in acute myeloid leukemia (AML) patients, as they play a central role for risk stratification algorithms. High hyperdiploidy (HH), a rare cytogenetic abnormality seen commonly in elder male AML patients, is normally categorized under AML with complex karyotype (CK). Accordingly, patients with HH generally are associated with low remission rates and a short overall survival.

Case presentation: Here we report a case of 21-year-old female, diagnosed with a de novo AML-M1 according to WHO classification and a CK at diagnosis. Cytogenetic, molecular cytogenetic approaches (standard fluorescence in situ hybridization (FISH), array-proven multicolor banding (aMCB)) and high resolution array comparative genomic hybridization (aCGH) analyses revealed a unique complex but still near diploid karyotype involving eleven chromosomes was identified. It included pentasomy 4, three yet unreported chromosomal aberrations t(1;2)(p35;p22), t(1;3)(p36.2;p26.2), and t(10;12)(p15.2;q24.11), and a combination of two cytogenetic events, yet unreported to appear in together, i.e. a reciprocal translocation t(1;3)(p36.2;p26.2) leading to EVI1/PRDM16 gene fusion, and monoallelic loss of tumor suppressor gene TP53. After successful chemotherapeutic treatment the patient experienced a relapse to AML-M1, and she developed secondary AML-M6 with tetraploidy and HH. Unfortunately, the young woman died 8.5 months after initial diagnosis.

Conclusions: To the best of our knowledge, a comparable adult AML associated with such a CK, coexistence of 3q rearrangements with loss of TP53 at diagnosis, and HH in secondary AML were not previously reported. Thus, the combination of the here seen chromosomal aberrations in adult primary AML seems to indicate for an adverse prognosis.

Background: Dengue infection patients are presented with acute febrile illness. Clinical presentations may mimic other infections. The serology for definite diagnosis is costly and inaccessible in many hospitals. We sought to identify the clinical features and hematologic parameters from a complete blood count (CBC) which distinguish dengue infection from other causes.

Methods: This was a retrospective single center study from Chiang Mai University Hospital. All patients who presented with acute fever between September 2013 and July 2015 were included. The diagnosis of dengue infection must be confirmed by serology. The control groups were patients who presented with acute febrile illness without localizing signs. Clinical data and CBC results were reviewed and compared. The Chi-square test was used to compare categorical variables. The CBC parameters were analyzed using the linear mixed model.

Results: One hundred and fifty-four dengue and 146 control patients were included. Headache, nausea, loss of appetite and bleeding diathesis were significantly symptoms in dengue patients (p < 0.05). There was some diversity in the the CBC in the dengue patients compared to the control group. Moreover, this study also identified the day of fever which these parameters were statistically significant. The dengue group had higher hemoglobin and hematocrit from day 3 to day 10 (p < 0.001), lower white blood cell count from day 1 to day 10 (p < 0.001), lower platelet count from day 3 to day 10 (p < 0.001), higher monocyte on day 1-4 (p < 0.001), higher atypical lymphocyte percentage on day 5-9 (p < 0.001) and higher eosinophil percentage on day 9-10 (p = 0.001). Furthermore, the neutrophil to lymphocyte percentage ratio of dengue group was > 1 on the first 5 days then reversed on day 6 to Day 9 but in non-dengue group, the ratio was always > 1.

Conclusion: We identified important clinical features and CBC parameters to differentiate dengue patients from other patients who had acute febrile illness from other causes. This identification could be done in local hospitals to give an accurate diagnosis, enabling further investigation to be tailored and treatment commenced earlier.

Background: In patients presenting with peripheral lymphadenopathy, it is critical to effectively identify those with underlying cancer who require urgent specialist care.

Methods: We analyzed a large dataset of 1000 consecutive patients with unexplained lymphadenopathy referred between 2001 and 2009 to the Royal Marsden Hospital (RMH) rapid access lymph node diagnostic clinic (LNDC).

Results: Cancer was diagnosed in 14% of patients. Factors predictive for malignant disease were male sex, age, supraclavicular and multiple site involvement. Cancer-associated symptoms were present for a median of 8 weeks. The median time from referral to start of cancer therapy was 53 days. Fine needle aspiration (FNA) was performed in 83% of patients with malignancies. Sensitivity and specificity of FNA were limited (50 and 87%, respectively for any malignancy; 30 and 79%, respectively for lymphoma). The vast majority of cancer patients received diagnostic biopsies on the basis of suspicious clinical and ultrasound findings; the FNA result contributed to establishing the diagnosis in only 4 cases.

Conclusions: In conclusion, we demonstrate that Oncologist-led rapid access clinics are successful concepts to assess patients with unexplained lymphadenopathy. Our data suggest that a routine use of FNA should be reconsidered in this setting.

Background: The acquired inhibitors of coagulation have been observed in very rare cases of monoclonal gammopathies. We report a very rare case of anti-factor XI antibodies in patient with plasma cell leukemia (PCL).

Case presentation: This is a 59-year-old male patient without pathological history, admitted to the nephrology department for management of renal insufficiency and anemia syndrome. The history and physical examination revealed stigmata of hemorrhagic syndrome including hemothorax and hemoptysis. The hemostasis assessment showed an isolated prolonged activated partial thromboplastin time (APTT) with APTT ratio = 2.0.The index of circulating anticoagulant (37.2%) revealed the presence of circulating anticoagulants. The normalized dilute Russell viper venom time ratio of 0.99 has highlighted the absence of lupus anticoagulants. The coagulation factors assay objectified the decrease of the factor XI activity corrected by the addition of the control plasma confirming the presence of anti-factor XI autoantibodies. In addition, the blood count showed bicytopenia with non-regenerative normocytic normochromic anemia and thrombocytopenia. The blood smear demonstrated a plasma cell count of 49% (2842/mm3) evoking PCL. The bone marrow was invaded up to 90% by dystrophic plasma cells. The biochemical assessment suggested downstream renal and electrolyte disturbances from exuberant light chain production with abnormalities including hyperuricemia, hypercalcemia, elevated lactate dehydrogenase, non nephrotic-range proteinuria and high level of C reactive protein. The serum protein electrophoresis showed the presence of a monoclonal peak. The serum immunofixation test detects the presence of monoclonal free lambda light chains. He was treated with velcade, thalidomide and dexamethasone. The patient died after 2 weeks despite treatment.

Conclusion: Both PCL and anti-factor XI inhibitors are two very rare entities. To the best of our knowledge, this is the first reported case of a factor XI inhibitor arising in the setting of PCL. Factor inhibitors should be suspected in patients whose monoclonal gammopathies are accompanied by bleeding manifestations.

Background: Deficiency in coagulation factor VIII encoded by F8 results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene, F8, in an adult male patient with severe haemophilia A.

Case presentation: The patient was diagnosed in early childhood and subsequently co-infected with Hepatitis C and HIV acquired during early blood transfusion for haemophilia in the 1980ies. The identified F8 deletion, c.5411_5413delTCT, p.F1804del lies within a conserved part of the molecule, is predicted by bioinformatic software to be deleterious by the loss of Phenylalanine, and has not been previously described in any database.

Conclusion: This novel F8 deletion as a cause of haemophilia A did not result in generation of inhibitory antibodies to Factor VIII treatment and may have impact on (prenatal) diagnosis, genetic counselling, and treatment decisions in the affected family as well as in other families diagnosed with this F8 mutation. Finally, this novel mutation should be included in the panel of known genetic variants in F8 when searching for the genetic etiology in patients suspected of HEMA.

Background: An insight into the utilization pattern helps in future planning of blood drive. This study was conducted to describe the demographic characteristics of the transfusion recipients and pattern of blood and blood product utilization in Nigeria.

Methods: Blood bank registers of University of Calabar Teaching Hospital (UCTH) Calabar were analysed for a 12 month period. Number of blood units requested, number of units issued, Cross-match to transfusion ratio (C/T), age, gender, blood group, blood components received, patients ward and clinical diagnosis were computed. Diagnoses were grouped into broad categories according to the disease headings of International Classification of Diseases (ICD-10).

Results: Majority of the 2336 transfusion recipients studied were females (69.09%) and are in the reproductive age group; 15-49 years (75.23%). The median age of the recipients was 35 years (range, 0-89). Most of the recipients (n = 1636; 70.04%) received whole blood transfusion. Majority (94.46%) of the cross-matched units were issued giving C/T ratio of 1.06. The common blood group type was O Rhesus positive (62.63%). Obstetrics and Gynecology had the highest blood requisition (41.40%). The majority of the patients were diagnosed with conditions related to pregnancy and childbirth (38.70%), conditions originating in prenatal period (14.38%). The age range of 25-54 years had the highest blood transfusion requests (n = 501; 51.07%), of these, females were majority (n = 390;77.84%).

Conclusions: Our study recorded mostly young patients who received mostly whole blood. Most of the patients in the reproductive age group received transfusion for pregnancy and child-birth related cases.

Background: In pregnancy, hematological changes occur in order to meet the demands of the developing fetus and placenta, with major alterations in blood volume. Abnormal hematological profile affects pregnancy and its outcome. This study aimed to assess hematological profiles of pregnant women at a tertiary care teaching hospital.

Method: This cross sectional study was conducted among 284 consecutive pregnant women at St. Paul's Hospital Millennium Medical College. Socio-demographic characteristics were collected using pre-tested structured questionnaire. About 4 ml of venous blood was collected from each participant for hematological parameters analysis using Cell-Dyn1800 (Abbott Laboratories Diagnostics Division, USA) and peripheral blood film review.

Result: There were differences in mean hematological parameters between trimesters: specifically differences in mean values of WBC (1^stand 3rd), Hb(1stand2^nd and 1^st& 3rd), HCT (1^stand2nd), RDW (1^stand2^nd and 1^stand3rd), neutrophil and lymphocyte (1stand 2nd and 1^stand3^rd, for both) were statistically significant (p < 0.05). The prevalence rates of anemia and thrombocytopenia were 11.62 and 7.7%, respectively and were dominantly of mild type. On the bases of blood picture, we classified anemia's of pregnancy as microcytic hypochromic (51.5%), normocytic hypochromic (27.3%), normocytic normochromic (18.2%), and dimorphic (3%).

Conclusion: Significant changes in selected hematological parameters between trimesters, and an anemia and thrombocytopenia of mild type were documented in this study. The commonest morphologic features were mostly characteristic features of iron deficiency anemia. These warrant the need for monitoring hematological parameters of pregnant women at any stage of the pregnancy to avoid adverse outcomes.

Background: Anemia affects a significant part of the population in nearly every country in the globe. Iron requirements are greatest at ages 6-23 months when growth is extremely rapid and critically essential in critical times of life. Even though infants and toddlers are highly at risk, they are not considered as separate populations in the estimation of anemia. Despite this, the prevalence of anemia among under 24 months of age is still at its highest point of severity to be a public health problem in Ethiopia. There is no study that documented the magnitude of the problem and associated factors in the study area. The main aim of this study was to assess the prevalence of anemia and to identify associated factors among children 6-23 months of age.

Methods: A community-based cross-sectional study was carried out among 485 children of Damot Sore, South Ethiopia from March to April 2017. Data on socio-demographic, dietary, blood samples for hemoglobin level and malaria infection were collected. Both descriptive and bivariate analyses were done and all variables having a p-value of 0.25 were selected for multivariable analyses. A multivariable logistic regression model was used to isolate independent predictors of anemia at a p-value less than 0.05. A principal component analysis was used to generate household wealth score, dietary diversity score.

Results: Out of 522 sampled children, complete data were captured from 485 giving a response rate of 92.91%. For altitude and persons smoking in the house adjusted prevalence of anemia was 255(52.6%). The larger proportion, 128(26.4%) of children had moderate anemia. On multivariable logistic regression analyses, household food insecurity (AOR = 2.74(95% CI: 1.62-4.65)), poor dietary diversity (AOR = 2.86(95% CI: 1.73-4.7)), early or late initiation of complementary feeding (AOR = 2.0(95% CI: 1.23-3.60)), poor breastfeeding practice (AOR = 2.6(95% CI: 1.41-4.62)), and poor utilization of folic acid by mothers (AOR = 2.75(95% CI: 1.42-5.36)) were significantly associated with anemia.

Conclusion: Prevalence of anemia among children (6-23 months) was a severe public health problem in the study area. Most important predictors are suboptimal child feeding practices, household food insecurity, and poor diet. Multi-sectoral efforts are needed to improve health and interventions targeting nutrition security are recommended.

Background: In 1962 Victor Herbert developed megaloblastic anaemia four months after commencing a severely folate-deficient diet whereas, in his self-experiment 50 years later, this author took 19 months to fully deplete his liver folate store. This author proposed that his own larger initial liver folate store, due to his vegetarian diet and consumption of fortified foods, was the cause of the time difference.

Main text: This author now proposes that Herbert was also likely to have been deficient in vitamin C, thus shortening the time taken to develop folate deficiency. Several human experiments have confirmed the role of vitamin C in protecting reduced forms of folate from oxidation. Although there has historically been no consensus on the required intake of vitamin C, and official recommendations set a level below that required to ensure plasma saturation, recent research supports an intake that would ensure saturation. There have been no longitudinal experiments on human subjects since the introduction of voluntary or mandatory folic acid fortification of food, and the few published models differ significantly in their estimates of human liver folate storage capacity.

Conclusion: Because of the importance of folate in one-carbon metabolism, the potential influence of vitamin C intake on the time taken to deplete the liver folate store should be experimentally investigated.

Background: Evidence-based guidelines for sickle cell disease (SCD) health maintenance and management have been developed for primary health care providers, but not for individuals with SCD. To improve the quality of care delivered to individuals with SCD and their caregivers, the main purposes of this study were to: (1) understand the desire for patient-centered guidelines among the SCD community; and (2) adapt guideline material to be patient-centered using community-engagement strategies involving health care providers, community -based organizations, and individuals with the disease.

Methods: From May-December 2016, a volunteer sample of 107 individuals with SCD and their caregivers gave feedback at community forums (n = 64) and community listening sessions (n = 43) about technology use for health information and desire for SCD-related guidelines. A team of community research partners consisting of community stakeholders, individuals living with SCD, and providers and researchers (experts) in SCD at nine institutions adapted guidelines to be patient-centered based on the following criteria: (1) understandable, (2) actionable, and (3) useful.

Results: In community forums (n = 64), almost all participants (91%) wanted direct access to the content of the guidelines. Participants wanted guidelines in more than one format including paper (73%) and mobile devices (79%). Guidelines were adapted to be patient-centered. After multiple iterations of feedback, 100% of participants said the guidelines were understandable, most (88%) said they were actionable, and everyone (100%) would use these adapted guidelines to discuss their medical care with their health care providers.

Conclusions: Individuals with SCD and their caregivers want access to guidelines through multiple channels, including technology. Guidelines written for health care providers can be adapted to be patient-centered using Community-engaged research involving providers and patients. These patient-centered guidelines provide a framework for patients to discuss their medical care with their health care providers.