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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/28110136/impaired-muscle-force-production-and-higher-fatigability-in-a-mouse-model-of-sickle-cell-disease
#1
Benjamin Chatel, Christophe Hourdé, Julien Gondin, Alexandre Fouré, Yann Le Fur, Christophe Vilmen, Monique Bernard, Laurent A Messonnier, David Bendahan
Skeletal muscle function has been scarcely investigated in sickle cell disease (SCD) so that the corresponding impact of sickle hemoglobin is still a matter of debate. The purpose of this study was to investigate muscle force production and fatigability in SCD and to identify whether exercise intensity could have a modulatory effect. Ten homozygous sickle cell (HbSS), ten control (HbAA) and ten heterozygous (HbAS) mice were submitted to two stimulation protocols (moderate and intense) to assess force production and fatigability...
January 11, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28110135/identification-of-hereditary-hemochromatosis-pedigrees-and-a-novel-slc40a1-mutation-in-chinese-population
#2
LETTER
Peng An, Li Jiang, Yu Guan, Hao Wang, Jiaming Wang, Yongmei Tian, Wenjie Yang, Yanbo Shi, Jun Xue, Junxia Min, Fudi Wang
No abstract text is available yet for this article.
January 11, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28110131/marked-discordance-between-cytogenetic-molecular-and-morphologic-findings-in-a-patient-with-chronic-myeloid-leukemia
#3
LETTER
Armin Rashidi, Elizabeth Courville
No abstract text is available yet for this article.
January 10, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28087247/activity-of-von-willebrand-factor-and-levels-of-vwf-cleaving-protease-adamts13-in-preterm-and-full-term-neonates
#4
T Strauss, N Elisha, B Ravid, N Rosenberg, A Lubetsky, S Levy-Mendelovich, I Morag, U Nowak Göttl, G Kenet
Von Willebrand Factor (VWF) has a central role in primary hemostasis. Its biological activity is related to the size of VWF multimers, spontaneously binding to platelets and inducing circulating microthrombi formation. This process is down-regulated by the VWF cleaving protease ADAMTS13 (A Disintegrin and Metalloprotease with ThromboSpondin motif). To date, information regarding the levels of ADAMTS13 in neonates and preterm infants is scarce. Our aim was to study ADAMTS13, VWF antigen (Ag) and Ristocetin cofactor (RiCof) activity in neonates and evaluate potential correlations with perinatal complications...
December 29, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28063644/are-transient-and-shear-wave-elastography-useful-tools-in-gaucher-disease
#5
Muriel Webb, Ari Zimran, Tama Dinur, Oren Shibolet, Stella Levit, David M Steinberg, Ophira Salomon
Up to now, there are no reliable biochemical markers or imaging that could reveal early tissue damage in Gaucher disease. Therefore, we addressed whether elastography technique can serve as a tool for evaluating patients with Gaucher disease. The study included 42 patients with Gaucher disease type I and 33 patients with liver cirrhosis as well as 22 healthy volunteers. Ultrasound and Doppler examination was performed on each participant prior to apply transient and 2D shear wave elastography. In Gaucher disease the median stiffness of the spleen as assessed by transient elastography (TE) and shear wave elastography (SWE) was 35KPa and 22KPa respectively in contrast to the median stiffness of healthy controls (16...
December 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28061377/tnf-%C3%AE-increases-in-the-csf-of-children-with-acute-lymphoblastic-leukemia-before-cns-relapse
#6
José Carlos Jaime-Pérez, Carmen Magdalena Gamboa-Alonso, Raúl Alberto Jiménez-Castillo, Leslie Jazmín López-Silva, Mónica Andrea Pinzón-Uresti, Andrés Gómez-De León, David Gómez-Almaguer
There is scarce information regarding the concentration of cytokines in cerebrospinal fluid (CSF) of children with acute lymphoblastic leukemia (ALL) and their clinical association with CNS status. A prospective analysis of 40 patients <18years with newly diagnosed ALL was performed. Human cytokine magnetic bead panel assay values of IL-2, IL-4, IL-6, IL-8, IL-10, MCP-1, TNF-α in CSF at diagnosis, end of induction to remission, and 6months after diagnosis were determined. IL-6 and MCP-1 values showed a significant increment at the end of induction...
December 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28024237/concurrent-%C3%AE-thalassaemia-trait-and-southeast-asian-ovalocytosis-associated-with-clinically-significant-iron-loading
#7
LETTER
Yunxin Chen, Hai Yang Law, Guek Peng Tan, Ai Leen Ang
No abstract text is available yet for this article.
December 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28012701/assessment-of-the-liver-and-spleen-in-children-with-gaucher-s-disease-type-i-with-diffusion-weighted-mr-imaging
#8
Ahmed Abdel Khalek Abdel Razek, Ahmed Abdalla, Tarik Barakat, Heba El-Taher, Khadiga Ali
PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher's disease type I with diffusion-weighted MR imaging and to correlate hepatic and splenic ADC with parameters of disease severity. SUBJECTS AND METHODS: Prospective study was conducted upon 25 children (11 treated and 14 untreated) with Gaucher's disease and 12 age and sex matched control children. They underwent diffusion-weighted MR imaging of abdomen. Hepatic and splenic ADC and volume were calculated...
December 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28038846/primary-prophylaxis-for-children-with-severe-congenital-factor-vii-deficiency-clinical-and-laboratory-assessment
#9
A A Kuperman, A A Barg, Y Fruchtman, E Shaoul, N Rosenberg, G Kenet, T Livnat
Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30μg/kg/dose, given 2-3 times weekly since infancy, are discussed...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28024892/classifying-the-additional-morbidities-of-gaucher-disease
#10
Mirjam Langeveld, Deborah Elstein, Jeff Szer, Carla E M Hollak, Ari Zimran
No abstract text is available yet for this article.
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28011390/reversible-mri-findings-in-a-case-of-acute-intermittent-porphyria-with-a-novel-mutation-in-the-porphobilinogen-deaminase-gene
#11
Jing Yang, Hang Yang, Qianlong Chen, Baolai Hua, Tienan Zhu, Yongqiang Zhao, Xuezhong Yu, Huadong Zhu, Zhou Zhou
Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme in the of heme biosynthetic pathway. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, and visual disorder associated with potentially reversible neuroradiological abnormalities predominantly in the parieto-occipital lobes...
December 18, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27998672/quantitation-of-bleeding-symptoms-in-a-national-registry-of-patients-with-inherited-platelet-disorders
#12
Shoshana Revel-Vilk, Chana Richter, Tal Ben-Ami, Joanne Yacobovich, Shraga Aviner, Ayelet Ben-Barak, Amir Asher Kuperman, Shira Ben-Barak, Chaim Kaplinsky, Hagit Miskin, Hannah Tamary, Gili Kenet
BACKGROUND: Inherited platelet deficiency and/or dysfunction may be more common in the general population than has previously been appreciated. In 2013 the Israeli Inherited Platelet Disorder (IPD) Registry was established. METHODS: Clinical and laboratory data were collected to pre-specified registration forms. The study protocol was approved by the local hospital ethics committees. RESULTS: To date we have included in the registry 89 patients (male 52%) from 79 families...
December 17, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28010922/risk-factors-for-symptomatic-venous-and-arterial-thromboembolism-in-newborns-children-and-adolescents-what-did-we-learn-within-the-last-20years
#13
Gili Kenet, Verena Limperger, Maria Shneyder, Ulrike Nowak-Göttl
Venous thrombosis (VTE) in children is increasingly diagnosed, as advanced medical care has increased treatment intensity of hospitalized pediatric patients. The aim of this review was to summarize the data available and to discuss the controversial issue of thrombophilia screening in the light of the pediatric data available. Follow-up data for VTE recurrence in children suggest a recurrence rate between 3% (neonates) and 21% in individuals with unprovoked VTE. Apart from underlying medical conditions, recently reported systematic reviews on pediatric VTE (70% provoked) have shown significant associations between thrombosis and presence of protein C-, protein S- and antithrombin deficiency, factor 5 (F5: rs6025), factor 2 (F2: rs1799963), even more pronounced when combined inherited thrombophilias [IT] were involved...
December 14, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28003098/validating-glycoprotein-non-metastatic-melanoma-b-gpnmb-osteoactivin-a-new-biomarker-of-gaucher-disease
#14
Vagishwari Murugesan, Jun Liu, Ruhua Yang, Haiquin Lin, Andrew Lischuk, Gregory Pastores, Xiaokui Zhang, Wei-Lien Chuang, Pramod K Mistry
In the spleens of Gaucher disease mice and patients, there is a striking elevation of expression of glycoprotein non-Metastatic Melanoma B (gpNMB). We conducted a study in a large cohort of patients with Gaucher disease to assess the utility of serum levels of soluble fragment of gpNMB as a biomarker of disease activity. There was >15-fold elevation of gpNMB in sera of untreated patients with Gaucher disease. gpNMB levels correlated with overall disease severity as well as the severity of individual organ compartments: liver, spleen, bone and hematological disease...
December 13, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28007403/the-additive-effect-on-the-antiepileptic-treatment-of-ambroxol-in-type-3-gaucher-patient-the-early-observation
#15
Lukasz Pawlinski, Maciej T Malecki, Beata Kiec-Wilk
No abstract text is available yet for this article.
December 11, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27993449/growth-and-final-height-of-children-with-gaucher-disease-a-15-year-follow-up-at-an-israeli-gaucher-center
#16
Espen Mendelsohn, Amos Meir, Aya Abrahamov, Deborah Elstein, Ari Zimran, Floris Levy-Khademi
BACKGROUND: It is held that enzyme replacement therapy (ERT) accelerates the growth rate in children with Gaucher disease, but its effect on final height has not been established with certainty. This study presents final heights of Gaucher patients followed up for 15years. METHODS: The study included 41 adults with non-neuronopathic Gaucher disease. The final height of the patients and age at puberty was compared to their mid-parental target height and to their siblings' heights...
December 9, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28017497/developmental-hemostasis-a-lifespan-from-neonates-and-pregnancy-to-the-young-and-elderly-adult-in-a-european-white-population
#17
Ulrike Nowak-Göttl, Verena Limperger, Gili Kenet, Frauke Degenhardt, Roman Arlt, Justus Domschikowski, Hartmut Clausnizer, Jürgen Liebsch, Ralf Junker, Dagmar Steppat
Absolute values of reference ranges for coagulation assays in humans vary within the entire lifespan and confirm the concept of developmental hemostasis. It is known that physiologic concentrations of coagulation factors (F) gradually increase over age: they are lower in premature infants as compared to full-term babies, healthy children or adults. Here we demonstrate in a cohort of 1011 blood donors and in a group of 193 healthy pregnant women, that the process of developmental hemostasis proceeds in adults...
December 5, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27908537/the-unusual-association-between-neuroblastoma-and-gaucher-disease-case-report-and-review-of-the-literature
#18
Annalisa Madeo, Alberto Garaventa, Angela Rita Sementa, Chiara Suffia, Maja Di Rocco
Gaucher disease (GD) patients have an increased risk of cancer, in particular of hematological origin, while the association between GD and Neuroblastoma (NBL) has never been described. Here we report the case of an adolescent diagnosed with NBL, also presenting splenomegaly and persistent thrombocytopenia. The association with GD, suggested by the histological findings on bone marrow biopsy, was confirmed by enzymatic and genetic tests. The possible pathogenetic mechanisms are briefly reviewed. The evidence of this new association supports the necessity of further studies on GD comorbidities and the need of systematic data collection and analysis, potentially through an international registry...
November 23, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27936396/gnpat-p-d519g-is-independently-associated-with-markedly-increased-iron-stores-in-hfe-p-c282y-homozygotes
#19
James C Barton, Wen-Pin Chen, Mary J Emond, Pradyumna D Phatak, V Nathan Subramaniam, Paul C Adams, Lyle C Gurrin, Gregory J Anderson, Grant A Ramm, Lawrie W Powell, Katrina J Allen, John D Phillips, Charles J Parker, Gordon D McLaren, Christine E McLaren
BACKGROUND: GNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores. We sought to determine associations of p.D519G and iron-related variables with iron stores in p.C282Y homozygotes. METHODS: We defined markedly increased iron stores as serum ferritin >2247pmol/L (>1000μg/L) and either hepatic iron >236μmol/g dry weight or iron >10g by induction phlebotomy (men and women). We defined normal or mildly elevated iron stores as serum ferritin <674...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27915113/white-blood-cells-and-subtypes-in-hfe-p-c282y-and-wild-type-homozygotes-in-the-hemochromatosis-and-iron-overload-screening-study
#20
James C Barton, J Clayborn Barton, Ronald T Acton
The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p.C282Y, p.H63D negative) homozygotes without acquired conditions that influence WBC counts. We performed regressions on WBC and subtypes. There were 161 p...
November 12, 2016: Blood Cells, Molecules & Diseases
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