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Blood Cells, Molecules & Diseases

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https://read.qxmd.com/read/30773433/hemotypesc-a-low-cost-point-of-care-testing-device-for-sickle-cell-disease-promises-and-challenges
#1
Obiageli Nnodu, Hezekiah Isa, Maxwell Nwegbu, Chinatu Ohiaeri, Samuel Adegoke, Reuben Chianumba, Ngozi Ugwu, Biobele Brown, John Olaniyi, Emmanuel Okocha, Juliet Lawson, Abdul-Aziz Hassan, Ijeoma Diaku-Akinwumi, Anazoeze Madu, Osita Ezenwosu, Yohanna Tanko, Umar Kangiwa, Ahmed Girei, Yetunde Israel-Aina, Adama Ladu, Perpetua Egbuzu, Usman Abjah, Angela Okolo, Nagihan Akbulut-Jeradi, Maria Fernandez, Frédéric B Piel, Adekunle Adekile
BACKGROUND: Sickle cell disease (SCD) is a neglected burden of growing importance. >312,000 births are affected annually by sickle cell anaemia (SCA). Early interventions such as newborn screening, penicillin prophylaxis and hydroxyurea can substantially reduce the mortality and morbidity associated with SCD. Nevertheless, their implementation in African countries has been mostly limited to pilot projects. Recent development of low-cost point-of-care testing (POCT) devices for sickle haemoglobin (HbS) could greatly facilitate the diagnosis of those affected...
February 8, 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30772106/thrombocytopenia-associated-with-high-levels-of-inhibin-a-case-study
#2
LETTER
Nicolas Gallastegui, Ryan M Coe, Alfredo Torres, Thomas J Harrington
No abstract text is available yet for this article.
January 28, 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30709626/reprogramming-of-bone-marrow-derived-mesenchymal-stromal-cells-to-human-induced-pluripotent-stem-cells-from-pediatric-patients-with-hematological-diseases-using-a-commercial-mrna-kit
#3
Irene Sfougataki, Ioannis Grafakos, Ioanna Varela, Anastasios Mitrakos, Angeliki Karagiannidou, Marianna Tzannoudaki, Myrto Poulou, Anny Mertzanian, Maria Roubelakis G, Kalliope Stefanaki, Joanne Traeger-Synodinos, Emmanuel Kanavakis, Vasiliki Kitra, Maria Tzetis, Evgenios Goussetis
The potential use of patient-specific induced pluripotent stem cells (hiPSCs) in the study and treatment of hematological diseases requires the setup of efficient and safe protocols for hiPSC generation. We aimed to adopt a reprogramming method for large-scale production of integration-free patient-specific hiPSC-lines in our stem cell processing laboratory, which supports a pediatric hematopoietic stem cell transplant unit located at a tertiary care children's hospital. We describe our 5-year experience in generation of hiPSC-lines from human bone marrow-derived mesenchymal stromal cells (BM-MSCs) using synthetic mRNAs encoding reprogramming factors...
January 24, 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30709625/acute-myeloid-leukemia-with-central-diabetes-insipidus
#4
Swetlana Ladigan, Thomas Mika, Anja Figge, Annette M May, Wolff Schmiegel, Roland Schroers, Alexander Baraniskin
While acute myeloid leukemia (AML) is the most common type of acute leukemia in adulthood, the constellation of AML associated with central diabetes insipidus (CDI) is rare and typically occurs in patients with chromosome 3 or 7 abnormalities. This subgroup of AML is associated with a poor clinical outcome. In this report, we present a young woman with AML and concurrent CDI in the presence of inversion(3)(q21q26). The AML was refractory to the induction therapy "7 + 3". Afterwards, the patient underwent allogenic stem cell transplantation (alloHSCT) and is still remaining in complete remission (CR) from AML as well as CDI 440 days after alloHSCT...
January 24, 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30704850/scurvy-an-old-story-in-a-new-time-the-hematologist-s-experience
#5
Roy Khalife, Anthony Grieco, Karima Khamisa, Alan Tinmouh, Chris McCudden, Elianna Saidenberg
BACKGROUND: Scurvy is a rare entity in developed countries and the diagnosis may often be delayed resulting in unnecessary investigations and/or potentially severe complications. A recent increase in the number of patients diagnosed with scurvy in our hematology clinics indicated the need to review the literature on the diagnosis and optimal management of similar patients. METHODS: We conducted a retrospective chart review of patients referred to hematology at our tertiary care centre between 2010 and 2018, who were ultimately diagnosed with scurvy...
January 24, 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30683541/downregulation-of-intrinsic-apoptosis-pathway-in-erythroblasts-contributes-to-excessive-erythrocytosis-of-chronic-mountain-sickness
#6
Jie Ma, Linhua Ji, Zhanquan Li, Huihui Liu, Chengyu Zhao, Hua Xiong, Shengyan Wang, Ri-Li Ge, Sen Cui
Chronic mountain sickness (CMS) has a higher incidence in the plateau region and is characterized by excessive erythrocytosis and hypoxemia. Bcl-2 family plays an important role in the process of erythropoiesis and the regulation of apoptosis. This study aimed to examine the change in apoptosis of erythroblasts in CMS patients and explore the involvement of Bcl-2 family. Bone marrow mononuclear cells (BMMNCs) were isolated by density gradient centrifugation from 18 CMS patients and 17 control participants. The apoptotic rate, mitochondrial membrane potential (MMP), the protein expression of caspase-3, TNFR, Fas, Bcl-2, Bax and Cyt-C were examined by flow cytometry, and mRNA expression was determined by real-time PCR...
January 9, 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30679022/rutin-and-curcumin-reduce-inflammation-triglyceride-levels-and-ada-activity-in-serum-and-immune-cells-in-a-model-of-hyperlipidemia
#7
Alessandra G Manzoni, Daniela F Passos, Jean L G da Silva, Viviane M Bernardes, João M Bremm, Matheus H Jantsch, Juliana S de Oliveira, Thaís R Mann, Cinthia M de Andrade, Daniela B R Leal
Hyperlipidemia is associated with endothelial dysfunction and inflammatory disorders. Adenosine and adenosine deaminase (ADA) modulate immune responses and lipid metabolism. Curcumin and rutin are polyphenols with antioxidant, anti-inflammatory, and hypolipidemic effects. We evaluated the action of rutin and curcumin in the lipid levels and inflammation, as well as their effect on ADA activity in serum, lymphocytes, platelets, and neutrophils of hyperlipidemic rats. Adult male Wistar rats pretreated with curcumin and/or rutin for 30 days were submitted to Poloxamer-407- induced hyperlipidemia...
December 28, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30612066/silencing-of-circ_0009910-inhibits-acute-myeloid-leukemia-cell-growth-through-increasing-mir-20a-5p
#8
Lei Ping, Chen Jian-Jun, Liao Chu-Shu, Liu Guang-Hua, Zhou Ming
Acute myeloid leukemia (AML) is the most common acute leukemia in adults, which is aggressive cancer. CircRNAs are abundantly expressed in the hematologic malignancy cells. In this study, we aimed to investigate the expression profiling of circRNAs in AML. We performed circRNA-sequencing to identify differentially expressed circRNAs in bone marrow samples from AML patients and iron-deficiency anemia (control). Furthermore, we found that circ_0009910 was significantly upregulated in AML patients compared with iron-deficiency anemia patients...
December 28, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30612065/wt1-gene-is-overexpressed-in-myeloproliferative-neoplasms-especially-in-myelofibrosis
#9
Laurane Cottin, Jérémie Riou, Françoise Boyer, Anne Bouvier, Alain Zannetti, Anaïse Blouet, Matgorzata Truchan-Graczyk, Rébecca Jouanneau-Courville, Annaëlle Beucher, Bénédicte Ribourtout, Corentin Orvain, Mathilde Hunault-Berger, Odile Blanchet, Valérie Ugo, Damien Luque Paz
Classical Philadelphia-negative myeloproliferative neoplasms include Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). They are characterized by the presence of driver mutations of JAK2, CALR or MPL genes. Overexpression of WT1 is used as a marker of minimal residual disease in acute myeloid leukemia, especially after allogeneic stem cell transplantation (SCT). We investigated WT1 expression at diagnosis in 152 MPN patients and showed that the WT1 transcript was overexpressed in PMFs and PVs compared to controls...
December 20, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30594845/assessment-of-il-17f-rs763780-gene-polymorphism-in-immune-thrombocytopenia
#10
Fetnat Mahmoud Tolba, Safia Mohamed Diab, Amira M N Abdelrahman, Ola Galal Behairy, Eman Rateb Abd Almonaem, Mysara M Mogahed, Shereen Abdel-Sadek Mohamed
Interleukin-17F rs763780 (7488A/G) gene polymorphism obviously affecting the expression and activity of IL17F and may affect primary immune thrombocytopenia (PIT) susceptibility and its clinical features in Egyptian children and adults. 105 ITP patients divided into (63 pediatric and 42 adult patient) and 112 age and sex matched healthy controls were enrolled in this case control study. All patients were subjected to history taking; clinical examination, CBC, bone marrow aspiration and genotyping of IL17F rs763780 polymorphism by (PCR-RFLP) technique...
December 14, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30594846/favourable-improvement-in-haematological-parameters-in-response-to-oral-iron-and-vitamin-c-combination-in-children-with-iron-refractory-iron-deficiency-anemia-irida-phenotype
#11
S Sourabh, P Bhatia, R Jain
Treatment in IRIDA focuses on use of intravenous iron preparations to circumvent oral absorptive defect resulting from high levels of hepcidin due to TMPRSS6 gene variations. However, recent case reports and recommendations on atypical microcytic hypochromic anemias advocate use of oral iron and vitamin c trial before parenteral iron, as the same results in comparable improvement in haemoglobin. We prospectively evaluated our IRIDA cohort (n = 7) with oral iron and vitamin c dose over a period of 10 weeks and noted complete response in majority (6/7 = 86%) with >2 g/dL rise in Hb along with significant improvement of other iron related indices...
December 13, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30616104/an-efficient-method-to-generate-xenograft-tumor-models-of-acute-myeloid-leukemia-and-hepatocellular-carcinoma-in-adult-zebrafish
#12
Nusrat Khan, Nilesh Kumar Mahajan, Pradip Sinha, Giridhara R Jayandharan
Zebrafish is emerging as a promising model for the study of human cancers. Several xenograft models of zebrafish have been developed, particularly in larval stages (<48 h post fertilization) when the immune system of fish is not developed. However, xenografting in adult zebrafish requires laborious and transient methods of immune suppression (γ- irradiation or dexamethasone) that limits engraftment and survival of the tumor or fail to recapitulate specific characteristics of malignancies. Thus, the availability of a simple protocol to successfully engraft adult zebrafish, remains a challenge...
March 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30597429/association-of-fetal-hemoglobin-level-with-frequency-of-acute-pain-episodes-in-sickle-cell-disease-hbs-only-phenotype-patients
#13
Bimal Prasad Jit, Pradeep Kumar Mohanty, Prasanta Purohit, Kishalaya Das, Siris Patel, Satyabrata Meher, Jyoti Ranjan Mohanty, Shalini Sinha, Rajendra Kumar Behera, Padmalaya Das
BACKGROUND: Sickle cell disease (SCD) is a Mendelian single gene disorder with highly variable phenotypic expression. In the present study, we analyzed the influence of HbF, alpha thalassemia and other hematological indices to determine their association with acute pain episodes. METHOD: This case control study consisted of SCD subjects with HbS phenotype experiencing three or more acute pain episodes in last twelve months (cases) and without any episode of acute pain during last twelve months (controls)...
March 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30454965/tet2-rs2454206-tet2-rs12498609-and-asxl1-rs3746609-single-nucleotide-polymorphisms-in-patients-with-myelodysplastic-syndromes
#14
Jinjun Hu, Jing Xu, Tingting Tian, Juan Xie, Lifang Fan, Guiyang Zhu, Ting Xia, Xi Chen, Yanhong Tan, Xiuhua Chen, Fanggang Ren, Yaofang Zhang, Hongwei Wang, Zhifang Xu
To study the association between TET2rs2454206, TET2rs12498609 and ASXL1rs3746609 and Myelodysplastic syndromes (MDS), a total of 90 MDS patients and 143 healthy volunteers were included. The clinical data, bone marrow samples of patients and peripheral blood samples of volunteers were obtained. We found TET2rs2454206 G/A genotype, TET2rs12498609 G/C genotype and ASXL1rs3746609 A/G genotype in 13.3%, 11.1%, 10.1% MDS patients and in 42.7%, 22.4%, 23.8% healthy volunteers (P < 0.001; P = 0.029; P = 0...
February 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30454964/circulating-microvesicles-are-less-procoagulant-and-carry-different-mirna-cargo-in-myelodysplasia
#15
Anoop K Enjeti, Anita Ariyarajah, Angel D'Crus, Carlos Riveros, Michael Seldon, Lisa F Lincz
BACKGROUND AND AIMS: Myelodysplasia (MDS) is characterised by abnormal haematopoiesis and increased risk of bleeding. Microvesicles (MV) play a key role in coagulation and their impact in MDS is unknown. METHODS: Platelet free plasma from 35 red-cell transfusion-dependent MDS patients and 15 controls were analysed. Pro-coagulant function was assessed by the XaCT assay and by thrombin generation (ETP). Total MV were enumerated by nano-tracking analysis. MV subsets were quantified by flow cytometry after staining with specific antibodies for various endovascular cell types...
February 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30446378/hepatocellular-carcinoma-in-gaucher-disease-reinforcing-the-proposed-guidelines
#16
LETTER
Rodrigo Tzovenos Starosta, Filippo Pinto E Vairo, Alícia Dorneles Dornelles, Carlos Thadeu Schmidt Cerski, Mario Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz
No abstract text is available yet for this article.
February 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30340937/detection-of-hfe-haemochromatosis-in-the-clinic-and-community-using-standard-erythrocyte-tests
#17
Niwansa Adris, Simon Hazeldine, Peter Bentley, Debbie Trinder, Anita C G Chua, Lawrie W Powell, Louise E Ramm, Grant A Ramm, John K Olynyk
Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n = 122) or without (n = 22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects...
February 2019: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30530101/analysis-of-clinical-and-molecular-features-of-mds-patients-with-complex-karyotype-in-china
#18
Yanling Ren, Chen Mei, Li Ye, Yingwan Luo, Xinping Zhou, Haiyang Yang, Peipei Lin, Weilai Xu, Liya Ma, Jie Jin, Hongyan Tong
We retrospectively analyzed 101 primary MDS patients with complex karyotype during January 2010 and April 2017.The median overall survival (OS) time was 13 (95% CI 9.98-16.02) months, and there was no significant difference in OS for different treatment. Chromosome 5/7 involvement was common (78.22%, 79/101) and associated with shorter OS (12 months vs. 28 months, P < 0.01) Monosomal karyotype (MK) is overlapped with CK in 79 patients, but was not statistically associated with shorter OS. While in 59 cases with genes sequenced, 57 (96...
November 22, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30502565/anti-factor-viii-inhibitors-against-a2-and-c2-domains-in-hemophilia-a-patients-from-india
#19
LETTER
Tejasvita Gaikwad, Rutuja Deshpande, Shrimati Shetty
No abstract text is available yet for this article.
November 16, 2018: Blood Cells, Molecules & Diseases
https://read.qxmd.com/read/30502564/primary-cns-lymphoma-patient-derived-orthotopic-xenograft-model-capture-the-biological-and-molecular-characteristics-of-the-disease
#20
Frédéric Pouzoulet, Agusti Alentorn, Louis Royer-Perron, Franck Assayag, Karima Mokhtari, Dalila Labiod, Magali Le Garff-Tavernier, Mailys Daniau, Emmanuelle Menet, Matthieu Peyre, Anne Schnitzler, Justine Guegan, Frédéric Davi, Khê Hoang-Xuan, Carole Soussain
Primary CNS lymphomas (PCNSL) are rare and poor prognosis diffuse large B-cell lymphomas. Because of the brain tumor environment and the restricted distribution of drugs in the CNS, specific PCNSL patient-derived orthotopic xenograft (PDOX) models are needed for preclinical research to improve the prognosis of PCNSL patients. PCNSL patient specimens (n = 6) were grafted in the caudate nucleus of immunodeficient nude mice with a 83% rate of success, while subcutaneous implantation in nude mice of human PCNSL sample did not generate lymphoma, supporting the role of the brain microenvironment in the PCNSL physiopathology...
November 16, 2018: Blood Cells, Molecules & Diseases
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