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Blood Cells, Molecules & Diseases

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https://www.readbyqxmd.com/read/27908537/the-unusual-association-between-neuroblastoma-and-gaucher-disease-case-report-and-review-of-the-literature
#1
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/27915113/white-blood-cells-and-subtypes-in-hfe-p-c282y-and-wild-type-homozygotes-in-the-hemochromatosis-and-iron-overload-screening-study
#2
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
https://www.readbyqxmd.com/read/27876360/the-role-of-high-density-lipoprotein-in-type-1-gaucher-disease
#3
Salmas Watad, Niroz Abu-Saleh, Awni Yousif, Abed Agbaria, Hanna Rosenbaum
Type I Gaucher Disease (GD1) is known to be associated with hypocholesterolemia and reduced levels of low density lipoprotein (LDL) and high density lipoprotein (HDL). In this study we aimed to correlate disease severity with HDL levels and to evaluate the effect of enzyme replacement therapy (ERT) on HDL levels as well as estimating the frequency of cardiovascular events in GD. Two groups of GD1 patients were evaluated: 30 untreated and 36 patients on ERT. Disease severity, biomarkers of GD and lipid levels were evaluated in the two groups...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27866810/histological-characterisation-of-visceral-changes-in-a-patient-with-type-2-gaucher-disease-treated-with-enzyme-replacement-therapy
#4
Yuko Tezuka, Mitsumasa Fukuda, Shohei Watanabe, Takeshi Nakano, Kentaro Okamoto, Kazuyo Kuzume, Yoshiaki Yano, Mariko Eguchi, Minenori Ishimae, Eiichi Ishii, Tatsuhiko Miyazaki
Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27866808/combined-beta-glucosylceramide-and-ambroxol-hydrochloride-in-patients-with-gaucher-related-parkinson-disease-from-clinical-observations-to-drug-development
#5
Yuval Ishay, Ari Zimran, Jeffrey Szer, Tama Dinur, Yaron Ilan, David Arkadir
Both patients with non-neuronopathic Gaucher disease (GD) and heterozygous GBA mutation carrier are at increased risk for Parkinson disease (PD). The risk for PD in these groups does not linearly increase with glucosylceramide (GC) accumulation or with acid β-glucocerebrosidase (GCase) activity. This observation, together with other clinical systemic observations raises the possibility that extra-cellular GC actually has beneficial, anti-inflammatory, properties. Based on this hypothesis, we suggest here that the administration of supplementary oral GC to GBA carriers at risk for PD may slow inflammatory-driven secondary neuronal death...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27865683/health-related-quality-of-life-in-children-adolescents-and-adults-with-hereditary-and-acquired-bleeding-disorders
#6
Ulrike Nowak-Göttl, Hartmut Clausnizer, Dorothee Kowalski, Verena Limperger, Anne Krümpel, Maria Shneyder, Sarah Reinke, Angela Rocke, David Juhl, Dagmar Steppat, Manuela Krause
BACKGROUND: To better understand self-reported health-related quality-of-life (HrQoL) in children and adults with chronic hemostatic conditions compared with healthy controls. METHODS/PATIENTS/RESULTS: Group 1 consisted of 74 children/adolescents aged 8-18years with hereditary bleeding disorders (H-BD), 12 siblings and 34 peers. Group 2 consisted of 82 adult patients with hereditary/acquired bleeding disorders (H/A-BD), and group 3 of 198 patients with deep venous thrombosis (DVT) on anticoagulant therapy...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27864021/trio-approach-reveals-higher-risk-of-pd-in-carriers-of-severe-vs-mild-gba-mutations
#7
David Arkadir, Tama Dinur, Stephen Mullin, Atul Mehta, Hagit N Baris, Roy N Alcalay, Ari Zimran
Heterozygote GBA (glucosylceramidase beta) mutations increase the risk of Parkinson's disease (PD). Data based on the measured frequencies of GBA mutated alleles in the healthy population suggest that severe GBA mutations are associated with even higher risk for PD. These data, however, are prone to methodological biases resulting from the rarity of severe mutations and from ethnic-dependent differences in allele frequencies. To overcome these biases, we traced 13 Gaucher disease (GD) patients who were compound heterozygotes for one mild (N370S) and one severe GBA mutation and who reported a parent with PD...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27847274/bone-mineral-density-and-lean-muscle-mass-characteristics-in-children-with-gaucher-disease-treated-with-enzyme-replacement-therapy-or-untreated
#8
Liron Dar, Maayan Tiomkin, Deborah Elstein, Ari Zimran, Ehud Lebel
No abstract text is available yet for this article.
November 9, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27839984/low-t-cell-receptor-excision-circles-trecs-in-a-case-of-zap-70-deficient-severe-combined-immunodeficiency-scid-with-a-novel-mutation-from-india
#9
LETTER
Jahnavi Aluri, Khushnuma Italia, Maya Gupta, Aparna Dalvi, Ashish Bavdekar, Manisha Madkaikar
No abstract text is available yet for this article.
November 5, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27865684/clinical-and-molecular-characteristics-of-patients-with-gaucher-disease-in-southern-china
#10
Yuyu Feng, Yonglan Huang, Chengfang Tang, Hao Hu, Xiaoyuan Zhao, Huiying Sheng, Wen Zhang, Minyi Tan, Ting Xie, Jipeng Zheng, Zongcai Liu, Xueying Su, Yongxian Shao, Xiuzhen Li, Jing Cheng, Xiaojian Mao, Li Liu
Gaucher disease (GD) is a common lysosomal storage disorder caused by the deficiency of acid β-glucosidase, due to mutations in the GBA gene. To explore the clinical and molecular characteristics of GD patients from Southern China, GBA gene was analyzed by nest PCR and direct Sanger-sequencing. Novel missense mutations were transiently transfected in COS-7 cells by plasmid system for functional verification. Among the 22 GD patients, 19 patients were classified as type 1 and three as type 2. Over 60% of the type 1 patient had onset before 2years old and about 42% of them died before 3years old...
November 3, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27856178/upr-activation-and-chop-mediated-induction-of-gba1-transcription-in-gaucher-disease
#11
Hila Braunstein, Gali Maor, Gaya Chicco, Mirella Filocamo, Ari Zimran, Mia Horowitz
Chronic presence of mutant, misfolded proteins in the endoplasmic reticulum (ER) initiates ER stress and induces the Unfolded Protein Response (UPR). In Gaucher disease (GD), resulting from mutations in the GBA1 gene, encoding lysosomal acid β-glucocerebrosidase (GCase), a certain fraction of the mutant variants is retained in the ER and activates the UPR. We have previously shown UPR activation in GD derived fibroblasts, in fibroblasts that derived from carriers of GD mutations and in Drosophila models of carriers of GD mutations...
November 3, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27888688/an-oral-hemokine-tm-%C3%AE-methylhydrocinnamate-enhances-myeloid-and-neutrophil-recovery-following-irradiation-in-vivo
#12
Douglas V Faller, Serguei A Castaneda, Daohong Zhou, Merriline Vedamony, Peter E Newburger, Gary L White, Stanley Kosanke, P Artur Plett, Christie M Orschell, Michael S Boosalis, Susan P Perrine
An oral therapeutic which reduces duration of cytopenias and is active following accidental radiation exposures is an unmet need in radiation countermeasures. Alpha methylhydrocinnamate (ST7) prolongs STAT-5 phosphorylation, reduces growth-factor dependency of multi-lineage cell lines, and stimulates erythropoiesis. Here, ST7 and its isomers were studied for their effects on myeloid progenitors and hematopoietic stem cells (HSCs) following radiation, in nonhuman primates, and murine irradiation models. Addition of ST7 or ST7-S increased CFU-GM production by 1...
October 31, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27839980/enzyme-replacement-therapy-reverses-b-lymphocyte-and-dendritic-cell-dysregulations-in-patients-with-gaucher-disease
#13
Renuka Pudi Limgala, Chandni Jani, Chidima Ioanou, Oral Alpan, Ozlem Goker-Alpan
Gaucher disease (GD) is caused by mutations in the GBA gene encoding lysosomal enzyme, β-glucocerebrosidase (GCase). GCase deficiency results in accumulation of its substrates in cells of macrophage lineage, affecting multiple organ systems. Enzyme replacement therapy (ERT) with recombinant human GCase is the standard of care to treat GD. In GD, it is well established that there are immune alterations, clinically presenting as lymphadenopathy, gammopathies, and predisposition to hematological cancers. We examined the effect of ERT on immune dysregulations in treatment-naïve GD patients longitudinally after the initiation of ERT...
October 28, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27839983/gaucheromas-when-macrophages-promote-tumor-formation-and-dissemination
#14
Margarita Ivanova, Renuka Pudi Limgala, Erk Changsila, Ravi Kamath, Chidima Ioanou, Ozlem Goker-Alpan
Deficiency of the lysosomal enzyme, β-glucocerebrosidase, and accumulation of its substrate in cells of the reticuloendothelial system affects multiple organ systems in patients with Gaucher disease (GD). Lipid laden macrophages turn into Gaucher cells (GC) which are the pathological characteristic of GD. GC focally accumulate in the liver, spleen and at extraosseous sites to form benign lesions called Gaucheromas. Gaucheromas pose diagnostic and therapeutic challenges. We studied the pathophysiology of extraosseous Gaucheroma formation in a cohort of patients with GD...
October 27, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27836529/twelve-years-of-experience-with-miglustat-in-the-treatment-of-type-1-gaucher-disease-the-spanish-zagal-project
#15
Pilar Giraldo, Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Koldo Atutxa, Antonio Acedo, Abelardo Barez, Margarita Blanes, Vicente Diaz-Morant, Ma Angeles Fernández-Galán, Rafael Franco, Cristina Gil-Cortes, Vicente Giner, Angela Ibañez, Paz Latre, Ines Loyola, Elisa Luño, Roberto Hernández-Martin, Blanca Medrano-Engay, José Puerta, Inmaculada Roig, Javier de la Serna, Olga Salamero, Lucia Villalón, Miguel Pocovi
We report data from a prospective, observational study (ZAGAL) evaluating miglustat 100mg three times daily orally. in treatment-naïve patients and patients with type 1 Gaucher Disease (GD1) switched from previous enzyme replacement therapy (ERT). Clinical evolution, changes in organ size, blood counts, disease biomarkers, bone marrow infiltration (S-MRI), bone mineral density by broadband ultrasound densitometry (BMD), safety and tolerability annual reports were analysed. Between May 2004 and April 2016, 63 patients received miglustat therapy; 20 (32%) untreated and 43 (68%) switched...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27816427/causes-of-death-in-184-patients-with-type-1-gaucher-disease-from-the-united-states-who-were-never-treated-with-enzyme-replacement-therapy
#16
Neal J Weinreb, Deborah S Barbouth, Robert E Lee
Treatment for type 1 Gaucher disease (GD1) decreases morbidity from hematological cytopenias, hepatosplenomegaly and bone complications. Consequently, untreated symptomatic patients for study of late outcomes are hard to find. We identified 184 untreated GD1 patients (67.4% Ashkenazi; splenectomy 51.1%) who died between 1950 and 2010. Here, we report confirmed causes of death for these patients compared with the overall US population. Median age of death 66years (2-97years); causes of death (COD) with a high proportional mortality rate (PMR) included malignancies (PMR 1...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27839979/treatment-na%C3%A3-ve-gaucher-disease-patients-achieve-therapeutic-goals-and-normalization-with-velaglucerase-alfa-by-4years-in-phase-3-trials
#17
Ari Zimran, Deborah Elstein, Derlis E Gonzalez, Elena A Lukina, Yulin Qin, Quinn Dinh, Hadhami Ben Turkia
Gaucher disease is an inherited metabolic disease characterized by β-glucocerebrosidase deficiency and commonly treated with enzyme replacement therapy (ERT). The efficacy of ERT with velaglucerase alfa was assessed based on the achievement of published therapeutic goals and the normalization of disease parameters in 39 treatment-naïve patients with type 1 Gaucher disease, 6 to 62years of age, enrolled in phase 3 clinical trials. After 4years of ERT, therapeutic goals for thrombocytopenia and splenomegaly had been achieved in 100% of patients; goals for anemia and hepatomegaly had been achieved in 95% and 94% of patients, respectively...
October 21, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27836527/the-utility-of-magnetic-resonance-imaging-for-bone-involvement-in-gaucher-disease-assessing-more-than-bone-crises
#18
Marcio Andrade-Campos, Esther Valero, Mercedes Roca, Pilar Giraldo
Bone effects are the most frequent cause of disability in Gaucher disease (GD). Magnetic resonance imaging (MRI) has improved the study of bone involvement making it possible to measure the extent of infiltration and to identify localized complications and other lesions. Here we describe the results of our analysis of all bone lesions registered in MRI studies performed in our GD Clinic. A retrospective study was undertaken for all patients with types 1 and 3 GD who underwent MRI evaluation and correlated with clinical, molecular, and other follow-up information obtained from the Spanish GD Registry...
October 21, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27789132/novel-hyperkinetic-dystonia-like-manifestation-and-neurological-disease-course-of-swedish-gaucher-patients
#19
Maciej Machaczka, Martin Paucar, Cecilia Kämpe Björkvall, Nicholas J C Smith, Timothy M Cox, Lars Forsgren, Per Svenningsson
BACKGROUND: Neuronopathic Gaucher disease type 3 (GD3) is frequent in northern Sweden, whereas GD1 is found throughout the country. In a nation-wide study, we examined neurological manifestations and clinical course in 12 patients with GD3 and 13 patients with GD1. METHODS: The patients were evaluated by standardized neurological assessments. Every sixth month, the GD3 patients were rated with the modified Severity Scoring Tool. At baseline and at the 3years follow-up, patients underwent University of Pennsylvania Smell Identification Test, Montreal Cognitive Assessment and Hospital Anxiety and Depression Scale...
October 21, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27839985/reported-outcomes-of-453-pregnancies-in-patients-with-gaucher-disease-an-analysis-from-the-gaucher-outcome-survey
#20
Heather Lau, Nadia Belmatoug, Patrick Deegan, Ozlem Goker-Alpan, Ida Vanessa D Schwartz, Suma P Shankar, Zoya Panahloo, Ari Zimran
Gaucher disease (GD) may worsen during pregnancy, leading to the discussion of continuing treatment during pregnancy. We examined fetal outcomes of pregnancies reported in the Gaucher Outcome Survey, an international GD-specific registry established in 2010. A total of 453 pregnancies were reported. Most pregnancies (336/453, 74.2%) were in women who did not receive GD-specific treatment during pregnancy, while enzyme replacement therapy (ERT) was received during 117/453 (25.8%) pregnancies. No pregnancies exposed to substrate reduction therapy were reported...
October 20, 2016: Blood Cells, Molecules & Diseases
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