journal
MENU ▼
Read by QxMD icon Read
search

Blood Cells, Molecules & Diseases

journal
https://www.readbyqxmd.com/read/29778312/biomarker-signatures-of-sickle-cell-disease-severity
#1
Mengtian Du, Sarah Van Ness, Victor Gordeuk, Sayed M Nouraie, Sergei Nekhai, Mark Gladwin, Martin H Steinberg, Paola Sebastiani
Identifying sickle cell disease patients at high risk of complications could lead to personalized treatment and better prognosis but despite many advances prediction of the clinical course of these patients remains elusive. We propose a system-type approach to discover profiles of multiple, common biomarkers that correlate with morbidity and mortality in sickle cell disease. We used cluster analysis to discover 17 signatures of 17 common circulating biomarkers in 2320 participants of the Cooperative Study of Sickle Cell Disease, and evaluated the association of these signatures with risk for stroke, pain, leg ulceration, acute chest syndrome, avascular necrosis, seizure, death, and trend of fetal hemoglobin and hemolysis using longitudinally collected data...
May 16, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29703677/concomitant-calr-and-lnk-mutations-leading-to-essential-thrombocythemia-with-erythrocytosis
#2
LETTER
Damien Luque Paz, Françoise Boyer, Annaëlle Beucher, Anne Bouvier, Rebecca Jouanneau-Courville, Philippe Guardiola, Diane Lambert, Yves Delneste, Mathilde Hunault, Odile Blanchet, Valérie Ugo
No abstract text is available yet for this article.
April 23, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29680197/safety-efficacy-and-authorization-of-eliglustat-as-a-first-line-therapy-in-gaucher-disease-type-1
#3
LETTER
Pramod K Mistry, Manisha Balwani, Hagit N Baris, Hadhami Ben Turkia, T Andrew Burrow, Joel Charrow, Gerald F Cox, Sumita Danda, Marta Dragosky, Guillermo Drelichman, Amal El-Beshlawy, Cristina Fraga, Selena Freisens, Sebastiaan Gaemers, Evgueniy Hadjiev, Priya S Kishnani, Elena Lukina, Pierre Maison-Blanche, Ana Maria Martins, Gregory Pastores, Milan Petakov, M Judith Peterschmitt, Hanna Rosenbaum, Barry Rosenbloom, Lisa H Underhill, Timothy M Cox
No abstract text is available yet for this article.
April 9, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29599084/red-blood-cells-compasses-and-snap-shots
#4
REVIEW
Joseph F Hoffman
No abstract text is available yet for this article.
March 21, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29599085/fetal-presentation-of-congenital-dyserythropoietic-anemia-type-1-with-novel-compound-heterozygous-cdan1-mutations
#5
Jessica A Meznarich, Lauren Draper, Robert D Christensen, Hassan M Yaish, Nick D Luem, Theodore J Pysher, Grace Jung, Elizabeta Nemeth, Tomas Ganz, Diane M Ward
The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15...
March 20, 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29550053/early-initiation-of-inhaled-corticosteroids-does-not-decrease-acute-chest-syndrome-morbidity-in-pediatric-patients-with-sickle-cell-disease
#6
Alexis Leonard, Nihal Godiwala, Nicole Herrera, Robert McCarter, Matthew Sharron, Emily Riehm Meier
Acute chest syndrome (ACS) is a leading cause of mortality in patients with sickle cell disease (SCD). Systemic corticosteroids decrease ACS severity, but the risk of readmission for vaso-occlusive crises (VOC) has limited their use. The efficacy of inhaled corticosteroids (ICS) as a safer alternative is currently unknown. An observational, historic cohort study compared patients with SCD with ACS who received ICS at admission (ICS) to those who did not (non-ICS). Outcome measures included rates of transfusion, oxygen requirement, BiPAP initiation, PICU transfer, intubation, readmission, hospital cost, and length of stay...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29544691/f8-inversions-of-introns-22-and-1-confer-a-moderate-risk-of-inhibitors-in-mexican-patients-with-severe-hemophilia-a-concordance-analysis-and-literature-review
#7
Hilda Luna-Záizar, José Ángel González-Alcázar, Natalia Evangelista-Castro, Lilia Beatriz Aguilar-López, Sandra Luz Ruiz-Quezada, Claudia Patricia Beltrán-Miranda, Ana Rebeca Jaloma-Cruz
Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development. We aimed to investigate prevalence of Inv22 and Inv1 mutations, and its association as risk factors for developing inhibitors to FVIII. We investigated Inv22 and Inv1 in 255 SHA Mexican patients from 193 unrelated families using the inverse shifting-polymerase chain reaction (IS-PCR)...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29499877/novel-mutations-in-mitochondrial-carrier-family-gene-slc25a38-causing-congenital-sideroblastic-anemia-in-iranian-families-identified-by-whole-exome-sequencing
#8
Maghsood Mehri, Maryam Zarin, Fariba Ardalani, Hossein Najmabadi, Azita Azarkeivan, Maryam Neishabury
Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with one affected member was investigated. Probands were suspected to rare anemias, including sideroblastic anemia. Whole exome sequencing in probands followed by segregation analysis in families was performed. Two novel frame shift mutations and one previously reported missense mutation in SLC25A38 gene was identified in these families...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29496375/expression-of-aberrantly-spliced-oncogenic-ikaros-isoforms-coupled-with-clonal-ikzf1-deletions-and-chimeric-oncogenes-in-acute-lymphoblastic-leukemia
#9
Volha Vshyukova, Alena Valochnik, Alexander Meleshko
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29496374/sustained-response-to-lenalidomide-for-early-relapsed-marginal-zone-lymphoma
#10
LETTER
Sami Ibrahimi, Gabriel Vidal, Sarbajit Mukherjee, Laith Alhyari, Teresa Scordino, Mohamad Cherry
No abstract text is available yet for this article.
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29475801/role-of-tissue-specific-promoter-dna-methylation-in-regulating-the-human-eklf-gene
#11
Yihong Li, Dun Liu, Zhiming Li, Xinhua Zhang, Yuhua Ye, Qifa Liu, Jie Shen, Zhi Chen, Huajie Huang, Yunhao Liang, Xu Han, Jing Liu, Xiuli An, Narla Mohandas, Xiangmin Xu
Erythroid Krüppel-like factor (EKLF/KLF1) is an erythroid-specific transcription factor whose activity is essential for erythropoiesis. The underlying mechanisms for EKLF specifically restricted to erythroid cells are of great interest but remain incompletely understood. To explore the epigenetic regulation of EKLF expression by promoter DNA methylation, we investigated the methylation status of the EKLF promoter and EKLF gene expression from a panel of human tissues. We observed that erythroid-specific hypomethylation of the EKLF promoter in adult erythroid cells was positively associated with EKLF expression...
July 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28811072/evolution-of-hemoglobin-loci-and-their-regulatory-elements
#12
REVIEW
Sjaak Philipsen, Ross C Hardison
Across the expanse of vertebrate evolution, each species produces multiple forms of hemoglobin in erythroid cells at appropriate times and in the proper amounts. The multiple hemoglobins are encoded in two globin gene clusters in almost all species. One globin gene cluster, linked to the gene NPRL3, is preserved in all vertebrates, including a gene cluster encoding the highly divergent globins from jawless vertebrates. This preservation of synteny may reflect the presence of a powerful enhancer of globin gene expression in the NPRL3 gene...
May 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28689691/variability-of-homozygous-sickle-cell-disease-the-role-of-alpha-and-beta-globin-chain-variation-and-other-factors
#13
REVIEW
Graham R Serjeant, Elliott Vichinsky
The single base molecular substitution characterizing sickle cell haemoglobin, β6 glu→val, might be expected to result in predictable haematological and clinical features. However, the disease manifests remarkable diversity believed to reflect the interaction with other genetic and environmental factors. Some of the genetic modifiers include the beta globin haplotypes, alpha thalassaemia, factors influencing the persistence of fetal haemoglobin and the effects of the environment are addressed in this review...
May 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28214138/globins-from-genes-to-physiology-and-diseases
#14
EDITORIAL
Douglas Vernimmen
No abstract text is available yet for this article.
May 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29324392/abnormal-rna-splicing-and-genomic-instability-after-induction-of-dnmt3a-mutations-by-crispr-cas9-gene-editing
#15
Lauren G Banaszak, Valentina Giudice, Xin Zhao, Zhijie Wu, Shouguo Gao, Kohei Hosokawa, Keyvan Keyvanfar, Danielle M Townsley, Fernanda Gutierrez-Rodrigues, Maria Del Pilar Fernandez Ibanez, Sachiko Kajigaya, Neal S Young
DNA methyltransferase 3A (DNMT3A) mediates de novo DNA methylation. Mutations in DNMT3A are associated with hematological malignancies, most frequently acute myeloid leukemia. DNMT3A mutations are hypothesized to establish a pre-leukemic state, rendering cells vulnerable to secondary oncogenic mutations and malignant transformation. However, the mechanisms by which DNMT3A mutations contribute to leukemogenesis are not well-defined. Here, we successfully created four DNMT3A-mutated K562 cell lines with frameshift mutations resulting in truncated DNMT3A proteins...
March 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29227829/a-long-noncoding-rna-from-the-hbs1l-myb-intergenic-region-on-chr6q23-regulates-human-fetal-hemoglobin-expression
#16
Tasha A Morrison, Ibifiri Wilcox, Hong-Yuan Luo, John J Farrell, Ryo Kurita, Yukio Nakamura, George J Murphy, Shuaiying Cui, Martin H Steinberg, David H K Chui
The HBS1L-MYB intergenic region (chr6q23) regulates erythroid cell proliferation, maturation, and fetal hemoglobin (HbF) expression. An enhancer element within this locus, highlighted by a 3-bp deletion polymorphism (rs66650371), is known to interact with the promoter of the neighboring gene, MYB, to increase its expression, thereby regulating HbF production. RNA polymerase II binding and a 50-bp transcript from this enhancer region reported in ENCODE datasets suggested the presence of a long noncoding RNA (lncRNA)...
March 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29217295/investigation-of-a-minor-groove-binding-polyamide-targeted-to-e2f1-transcription-factor-in-chronic-myeloid-leukaemia-cml-cells
#17
LETTER
Kourosh Hayatigolkhatmi, Giacomo Padroni, Wu Su, Lijing Fang, Eduardo Gómez-Castañeda, Ya-Ching Hsieh, Lorna Jackson, Tessa L Holyoake, Francesca Pellicano, Glenn A Burley, Heather G Jørgensen
No abstract text is available yet for this article.
March 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29187290/therapeutic-position-of-eliglustat
#18
LETTER
Timothy M Cox, Pramod K Mistry
No abstract text is available yet for this article.
March 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29162392/hematological-phenotypes-in-children-according-to-the-%C3%AE-globin-genotypes
#19
Raffaella Origa, Susanna Barella, Maria Elisabetta Paglietti, Franco Anni, Fabrice Danjou, Anna Rita Denotti, Maria Franca Desogus, Daniela Loi, Valeria Orecchia, Maria Carla Sollaino, Paolo Moi
Limited information is available on the hematological characterization of the α-thalassemia carrier in pediatric age. The objective of this report was to evaluate the red cell indices according to the α-globin genotype in a cohort of children evaluated in Sardinia. Moreover, we verified the frequency of different α-globin genotypes in this cohort. A total of 453 subjects were investigated for hematological indices and for the most common α-globin defects present in Sardinia. Of them, 352 with HbA2≤3.2%, and no iron deficiency anemia were taken into consideration to evaluate the red cell indices according to the α-globin genotype in pediatric age...
March 2018: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/29137845/enumeration-of-bone-marrow-plasmacytoid-dendritic-cells-by-multiparameter-flow-cytometry-as-a-prognostic-marker-following-allogeneic-hematopoietic-stem-cell-transplantation
#20
Ruijun Jeanna Su, Ralph Green, Mingyi Chen
Plasmacytoid dendritic cells (pDCs) promote tolerance in solid organ transplants and hematopoietic stem cell transplantation (HSCT). pDCs originate from CD34+ hematopoietic progenitors. Following allogeneic hematopoietic stem cell transplant (allo-HSCT), pDC reconstitution in the BM and PB gradually attain levels similar to those in healthy individuals. We have investigated the recovery of pDC following allo-HSCT as a means to predict successful marrow engraftment. We retrospectively studied immune reconstitution of pDC in the BM of 48 patients following allo-HSCT for initial diagnoses of leukemia or other malignancies...
March 2018: Blood Cells, Molecules & Diseases
journal
journal
32313
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"