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https://www.readbyqxmd.com/read/28803808/two-novel-mutations-p-ser160pro-and-p-arg472cys-causing-glucose-6-phosphate-isomerase-deficiency-are-associated-with-erythroid-dysplasia-and-inappropriately-suppressed-hepcidin
#1
Renata Mojzikova, Pavla Koralkova, Dusan Holub, Zuzana Saxova, Dagmar Pospisilova, Daniela Prochazkova, Petr Dzubak, Monika Horvathova, Vladimir Divoky
Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech and Slovak origin with macrocytic hemolytic anemia due to GPI deficiency. The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys)...
April 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28798083/hamp1-mrna-and-plasma-hepcidin-levels-are-influenced-by-sex-and-strain-but-don-t-predict-tissue-iron-levels-in-inbred-mice
#2
Stela McLachlan, Kathryn E Page, Seung-Min Lee, Alex Loguinov, Erika Valore, Simon T Hui, Grace Jung, Jie Zhou, Aldons J Lusis, Brie Fuqua, Tomas Ganz, Elizabeta Nemeth, Chris D Vulpe
Iron homeostasis is tightly regulated and the peptide hormone hepcidin is considered to be a principal regulator of iron metabolism. Previous studies in a limited number of mouse strains found equivocal sex and strain dependent differences in mRNA and serum levels of hepcidin. Similarly, conflicting data on the relationship between hepcidin (Hamp1) mRNA levels and iron status as assessed by transferrin saturation and tissue iron concentrations were reported. Our aim was to clarify the relationships between strain, sex and hepcidin expression by examining multiple tissues and the effects of different dietary conditions in multiple inbred strains...
August 10, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28795734/single-gold-bipyramids-with-sharp-tips-as-sensitive-single-particle-orientation-sensors-in-biological-studies
#3
So Young Lee, Yeji Han, Jong Wook Hong, Ji Won Ha
Plasmonic gold bipyramids (AuBPs) with sharp tips are promising orientation probes in biological studies because of their anisotropic shape, strong electric field enhancement at the tips, and convenient manipulation into other shapes. Herein, we elucidate the optical properties of single AuBPs at their localized surface plasmon resonance (LSPR) wavelengths using dark-field (DF) microscopy and differential interference contrast (DIC) microscopy and test their use as orientation probes in a dynamic biological environment...
August 10, 2017: Nanoscale
https://www.readbyqxmd.com/read/28794993/limitations-of-galactose-therapy-in-phosphoglucomutase-1-deficiency
#4
Kristine Nolting, Julien H Park, Laura C Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
INTRODUCTION: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and growth retardation. Oral galactose supplementation at a dosage of 1 g per kg body weight per day is regarded as the therapy of choice. RESULTS: We report on a patient with a novel disease causing mutation, who was treated for 1...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28792693/serum-hepcidin-levels-in-multiple-myeloma
#5
Manolov Victor, Hadjiev Evgeniy, Tzvetkova Gergana, Petrova Julia, Vasilev Vasil, Marinov Borislav, Bogov Ivo, Gramatikova Zlatina, Tzatchev Kamen
BACKGROUND: Multiple myeloma (MM) is a malignant disease with a 10% frequency among all haematology neoplasms. It is characterized by clone proliferation of plasmatic cells in bone marrow, monoclonal gammopathy, and anemia, hypercalcemia, and kidney failure and bone lesions. IL-6 is an inflammatory cytokine, potential growth factor for myeloma cells, as elevated serum levels are connected with poor disease prognosis. IL-6 modulates many gene transcriptions, encoding synthesis of acute phase proteins, including C-reactive protein (CRP) and hepcidin...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28792505/fluorescence-imaging-of-bombesin-and-transferrin-receptor-expression-is-comparable-to-18f-fdg-pet-in-early-detection-of-sorafenib-induced-changes-in-tumor-metabolism
#6
Jen-Chieh Tseng, Nara Narayanan, Guojie Ho, Kevin Groves, Jeannine Delaney, Bagna Bao, Jun Zhang, Jeffrey Morin, Sylvie Kossodo, Milind Rajopadhye, Jeffrey D Peterson
Physical measurement of tumor volume reduction is the most commonly used approach to assess tumor progression and treatment efficacy in mouse tumor models. However, it is relatively insensitive, and often requires long treatment courses to achieve gross physical tumor destruction. As alternatives, several non-invasive imaging methods such as bioluminescence imaging (BLI), fluorescence imaging (FLI) and positron emission tomography (PET) have been developed for more accurate measurement. As tumors have elevated glucose metabolism, 18F-fludeoxyglucose (18F-FDG) has become a sensitive PET imaging tracer for cancer detection, diagnosis, and efficacy assessment by measuring alterations in glucose metabolism...
2017: PloS One
https://www.readbyqxmd.com/read/28792166/evaluation-of-effect-of-ascorbic-acid-on-ferritin-and-erythropoietin-resistance-in-patients-of-chronic-kidney-disease
#7
N Nand, A R Deshmukh, R Mittal
OBJECTIVE: This study was planned to evaluate the effect of short term intravenous ascorbic acid on reducing ferritin and erythropoietin resistance in patients of chronic kidney disease (CKD) on maintenance haemodialysis (MHD). METHODS: Forty adult patients [20 patients in group A with increased serum ferritin level (>500 ng/ml), transferrin saturation (TSAT) ≤20% and 20 patients in group B with normal serum ferritin level (<200 ng/ml), TSAT ≤20%] of end stage renal disease (ESRD) with erythropoietin hyporesponsiveness undergoing maintenance hemodialysis were included in the study...
July 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28790810/indices-of-iron-homeostasis-correlate-with-airway-obstruction-in-an-nhanes-iii-cohort
#8
Andrew J Ghio, Elizabeth D Hilborn
Cigarette smoking results in the accumulation of iron both systemically and locally, in the lung thereby causing imbalance in iron homeostasis. This disruption in iron homeostasis can be associated with oxidative stress and consequent tissue injury. Therefore, in this study, we tested the association between iron homeostasis and airway obstruction by examining a large cohort of smokers and non-smokers for relationships between 1) serum ferritin and iron concentrations and transferrin saturation and 2) forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), and their ratio (FEV1/FVC)...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28790402/h-ferritin-nanocaged-olaparib-a-promising-choice-for-both-brca-mutated-and-sporadic-triple-negative-breast-cancer
#9
S Mazzucchelli, M Truffi, F Baccarini, M Beretta, L Sorrentino, M Bellini, M A Rizzuto, R Ottria, A Ravelli, P Ciuffreda, D Prosperi, F Corsi
Poly(ADP-ribose) polymerase (PARP) inhibitors represent a promising strategy toward the treatment of triple-negative breast cancer (TNBC), which is often associated to genomic instability and/or BRCA mutations. However, clinical outcome is controversial and no benefits have been demonstrated in wild type BRCA cancers, possibly due to poor drug bioavailability and low nuclear delivery. In the attempt to overcome these limitations, we have developed H-Ferritin nanoformulated olaparib (HOla) and assessed its anticancer efficacy on both BRCA-mutated and non-mutated TNBC cells...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28780484/expression-of-hepcidin-and-ferroportin-in-full-term-placenta-of-pregnant-cows
#10
Sante Roperto, Valeria Russo, Chiara Urraro, Anna Cutarelli, Antonella Perillo, Francesca De Falco, Franco Roperto
Hepcidin (HEP) and ferroportin (FPN) play a central role in systemic iron homeostasis. The HEP/FPN axis controls both extracellular iron concentration and total body iron levels. HEP is synthesized mainly by hepatocytes and controls the absorption of dietary iron and the distribution of iron to the various cell types; its synthesis is regulated by both iron and innate immunity. FPN is a membrane protein and the major exporter of iron from mammalian cells, including iron recycling macrophages, iron absorbing duodenal enterocytes, and iron storing hepatocytes...
July 27, 2017: Theriogenology
https://www.readbyqxmd.com/read/28777499/alg13-cdg-in-a-male-with-seizures-normal-cognitive-development-and-normal-transferrin-isoelectric-focusing
#11
Therese E Gadomski, Melody Bolton, Majid Alfadhel, Chris Dvorak, Olalekan A Ogunsakin, Stephen L Nelson, Eva Morava
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum. A male with seizures, delayed motor, and speech development, but normal cognition carried a hemizygous, predicted pathogenic ALG13 variant (p.E463G). N-glycosylation studies in plasma were normal. ICAM-1 expression was decreased in patient fibroblasts, supporting the variant's pathogenicity...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28774940/relationships-between-oxidative-stress-haematology-and-iron-profile-in-anaemic-and-non-anaemic-calves
#12
Fatemeh Rajabian, Mehrdad Mohri, Mohammad Heidarpour
The aim of this study was to investigate the relationships between oxidative stress, haematology and iron profile in neonatal dairy calves. Serum and haemolysate malondialdehyde (MDA), serum total antioxidant capacity, thiol groups, iron, total iron binding capacity, transferrin saturation and red blood cell (RBC) parameters were assessed in two groups: anaemic calves (n=14) and non-anaemic calves (n=16). Blood samples were collected from all of the calves within 24-48 hours after birth and at 7, 14, 21 and 28 days of age...
August 3, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28770094/diagnostic-utility-of-zinc-protoporphyrin-to-detect-iron-deficiency-in-kenyan-preschool-children-a-community-based-survey
#13
Emily M Teshome, Andrew M Prentice, Ayşe Y Demir, Pauline E A Andang'o, Hans Verhoef
BACKGROUND: Zinc protoporphyrin (ZPP) has been used to screen and manage iron deficiency in individual children, but it has also been recommended to assess population iron status. The diagnostic utility of ZPP used in combination with haemoglobin concentration has not been evaluated in pre-school children. We aimed to a) identify factors associated with ZPP in children aged 12-36 months; b) assess the diagnostic performance and utility of ZPP, either alone or in combination with haemoglobin, to detect iron deficiency...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28768839/serum-soluble-transferrin-receptor-concentrations-are-elevated-in-congolese-children-with-glucose-6-phosphate-dehydrogenase-variants-but-not-sickle-cell-variants-or-%C3%AE-thalassemia
#14
Mikaela K Barker, Amanda M Henderson, Karimah Naguib, Suzanne M Vercauteren, Angela M Devlin, Arianne Y Albert, Esto Bahizire, Pierrot L Tugirimana, Pierre Z Akilimali, Erick Boy, Tim J Green, Crystal D Karakochuk
Background: Anemia is common in Congolese children, and inherited blood disorders may be a contributing cause. The presence of sickle cell variants, X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency and α-thalassemia, has been previously reported. G6PD A- deficiency is characterized by the co-inheritance of G6PD 376 and 202 variants and is common in sub-Saharan Africa.Objective: We aimed to measure the associations between inherited blood disorders and hemoglobin, ferritin, and soluble transferrin receptor (sTfR) concentrations in Congolese children...
August 2, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28767659/mitochondrial-and-nuclear-dna-reveals-reticulate-evolution-in-hares-lepus-spp-lagomorpha-mammalia-from-ethiopia
#15
Zelalem Tolesa, Endashaw Bekele, Kassahun Tesfaye, Hichem Ben Slimen, Juan Valqui, Abebe Getahun, Günther B Hartl, Franz Suchentrunk
For hares (Lepus spp., Leporidae, Lagomorpha, Mammalia) from Ethiopia no conclusive molecular phylogenetic data are available. To provide a first molecular phylogenetic model for the Abyssinian Hare (Lepus habessinicus), the Ethiopian Hare (L. fagani), and the Ethiopian Highland Hare (L. starcki) and their evolutionary relationships to hares from Africa, Eurasia, and North America, we phylogenetically analysed mitochondrial ATPase subunit 6 (ATP6; n = 153 / 416bp) and nuclear transferrin (TF; n = 155 / 434bp) sequences of phenotypically determined individuals...
2017: PloS One
https://www.readbyqxmd.com/read/28762519/pathological-changes-in-sertoli-cells-and-dysregulation-of-divalent-metal-transporter-1-with-iron-responsive-element-in%C3%A2-the-testes-of-idiopathic-azoospermia-patients
#16
T Jing, P Wang, Y Liu, J Zhao, X Niu, X Wang
Iron is essential for rapidly dividing spermatocytes during normal mammalian spermatogenesis. Decreased transferrin and transferrin receptor levels were observed in seminal plasma from idiopathic azoospermia (IA) patients, suggesting disturbed iron metabolism in IA testes. However, how Sertoli cells (SCs) contribute to the iron homoeostasis in IA is still unclear. In this study, we analysed 30 IA and 30 age-matched obstructive azoospermia (OA) patients undergoing testicular sperm aspiration (TESA). SCs hyperplasia was indicated by higher SC density and Ki-67 labelling index in the IA TESA specimens...
August 1, 2017: Andrologia
https://www.readbyqxmd.com/read/28761840/comparative-analysis-of-serum-copper-iron-ceruloplasmin-and-transferrin-levels-in-mild-and-severe-psoriasis-vulgaris-in-iranian-patients
#17
Mohammad Shahidi-Dadras, Nastaran Namazi, Shima Younespour
BACKGROUND: There is a great body of evidence indicating that some inflammatory skin diseases, such as psoriasis, are mediated by oxidative stress. Trace metals have been shown to be involved in oxidative stress response. Altered trace metal homeostasis in psoriasis has been studied. However, limited number of studies has focused on the involvement of metal binding proteins in psoriasis. MATERIALS AND METHODS: In a case control-study, serum levels of Iron (Fe), Copper (Cu), Transferrin (Trf), and Ceruloplasmin (Cp) were measured in 40 psoriasis patients and matched healthy controls...
July 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28761342/transferrin-functionalized-nanographene-oxide-for-delivery-of-platinum-complexes-to-enhance-cancer-cell-selectivity-and-apoptosis-inducing-efficacy
#18
Hai Zhu, Binwei Zhou, Leung Chan, Yanxin Du, Tianfeng Chen
Rational design and construction of delivery nanosystems for anticancer metal complexes is a crucial strategy to improve solubility under physiological conditions and permeability and retention behavior in tumor cells. Therefore, in this study, we designed and synthesize a transferrin (Tf)-conjugated nanographene oxide (NGO) nanosystem as a cancer-targeted nanocarrier of Pt complexes (Tf-NGO@Pt). This nanodelivery system exhibited good solubility under physiological conditions. Moreover, Tf-NGO@Pt showed higher anticancer efficacy against MCF human breast cancer cells than the free Pt complex, and effectively inhibited cancer-cell migration and invasion, with involvement of reactive oxygen species overproduction...
2017: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/28758033/efficacy-and-tolerability-of-intravenous-ferric-carboxymaltose-in-patients-with-iron-deficiency-at-a-hospital-outpatient-clinic-a-retrospective-cohort-study-of-real-world-clinical-practice
#19
António Robalo Nunes, Ana Palricas Costa, Sara Lemos Rocha, Ana Garcia de Oliveira
Ferric carboxymaltose (FCM) is an intravenous iron formulation to correct iron deficiency. Although its use has been extensively studied in clinical trials, real-world evidence regarding FCM treatment is scarce. Our aim was to evaluate the efficacy and tolerability of FCM treatment in patients with iron deficiency, with or without anemia, at a hospital outpatient clinic. Data was collected retrospectively from medical records. During this 2-year study, 459 patients were included. Mean age was 58.6 ± 17.5 years and most patients received cumulative FCM doses of 501-1000 mg (63...
2017: Anemia
https://www.readbyqxmd.com/read/28756890/protein-separations-using-enhanced-fluidity-liquid-chromatography
#20
Raffeal Bennett, Susan V Olesik
Enhanced-fluidity liquid chromatography (EFLC) methods using methanol/H2O/CO2 and hydrophilic interaction liquid chromatography (HILIC) were explored for the separation of proteins and peptides. EFLC is a separation mode that uses a mobile phase made of conventional solvents combined with liquid carbon dioxide (CO2) in subcritical conditions. The addition of liquid CO2 enhances diffusivity and decreases viscosity while maintaining mixture polarity, which typically results in reduced time of analysis. TFA additive and elevated temperature were leveraged as key factors in the separation of a 13-analyte intact protein mixture in under 5min...
July 22, 2017: Journal of Chromatography. A
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