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https://www.readbyqxmd.com/read/28814227/mitochondrial-aconitase-in-neurodegenerative-disorders-role-of-a-metabolism-related-molecule-in-neurodegeneration
#1
Fariba Khodagholi, Fatemeh Shaerzadeh, Fateme Montazeri
Mitochondrial aconitase (Aco2), a member of the family of iron-sulfur [4Fe-4S]-containing dehydratases, is involved in cellular metabolism through the tricarboxylic acid cycle. Aco2 is highly susceptible to oxidative damage in a way that exposure to the reactive species and free radicals lead to release of iron from the central [4Fe-4S] cluster resulting in the production of the inactive form of Aco2. There is increasing evidence supporting a direct association between impaired energy metabolism and the incidence and progression of neurodegenerative disorders in neuronal cells...
August 16, 2017: Current Drug Targets
https://www.readbyqxmd.com/read/28811697/role-of-iron-and-copper-in-the-pathogenesis-of-parkinson-s-disease
#2
Mohit Kumar Gangania, Jyoti Batra, Suman Kushwaha, Rachna Agarwal
Parkinson's disease (PD) is an old age disorder of basal ganglia which involves oligomerization of α-synuclein protein and formation of intercellular inclusions known as "Lewy bodies" in substantia nigra and caudate nuclei in brain which is progressive in nature. It is second most prevalent neurodegenerative disorder characterized by tremor at rest, muscle rigidity, slowness of movement (bradykinesia, akinesia), and changes in posture (instability). Both excess and deficiency in levels of transition metals (especially iron, copper) can be detrimental to the central nervous system...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28809446/deferasirox-for-managing-iron-overload-in-people-with-thalassaemia
#3
REVIEW
Claudia Bollig, Lisa K Schell, Gerta Rücker, Roman Allert, Edith Motschall, Charlotte M Niemeyer, Dirk Bassler, Joerg J Meerpohl
BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload...
August 15, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28805937/new-data-on-hyperpigmentation-disorders
#4
REVIEW
S Schalka
Recently visible light (VL) and vascularization triggered by infrared light (IR) play a role in hyperpigmentation disorders of the skin. The aim of this article is to provide an update on the aetiology of hyperpigmentation disorders and means of prevention against UV, visible (VL) and infrared light (IR). The author conducted a literature review of the most recent data about hyperpigmentation disorders and means of prevention and protection. VL impacts on pigmentation, especially in individuals with phototype III, IV or V and also causes the production of Reactive Oxygen Species (ROS), erythema and DNA damage through ROS production as well as photodermatoses...
September 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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
#5
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/28803783/impact-of-mutations-within-the-fe-s-cluster-or-the-lipoic-acid-biosynthesis-pathways-on-mitochondrial-protein-expression-profiles-in-fibroblasts-from-patients
#6
E Lebigot, P Gaignard, I Dorboz, A Slama, M Rio, P de Lonlay, B Héron, F Sabourdy, O Boespflug-Tanguy, A Cardoso, F Habarou, C Ottolenghi, P Thérond, C Bouton, M P Golinelli-Cohen, A Boutron
Lipoic acid (LA) is the cofactor of the E2 subunit of mitochondrial ketoacid dehydrogenases and plays a major role in oxidative decarboxylation. De novo LA biosynthesis is dependent on LIAS activity together with LIPT1 and LIPT2. LIAS is an iron‑sulfur (Fe-S) cluster-containing mitochondrial protein, like mitochondrial aconitase (mt-aco) and some subunits of respiratory chain (RC) complexes I, II and III. All of them harbor at least one [Fe-S] cluster and their activity is dependent on the mitochondrial [Fe-S] cluster (ISC) assembly machinery...
August 3, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28801864/isolation-and-characterization-of-iron-chelators-from-turmeric-curcuma-longa-selective-metal-binding-by-curcuminoids
#7
Donald J Messner, Christine Surrago, Celia Fiordalisi, Wing Yin Chung, Kris V Kowdley
Iron overload disorders may be treated by chelation therapy. This study describes a novel method for isolating iron chelators from complex mixtures including plant extracts. We demonstrate the one-step isolation of curcuminoids from turmeric, the medicinal food spice derived from Curcuma longa. The method uses iron-nitrilotriacetic acid (NTA)-agarose, to which curcumin binds rapidly, specifically, and reversibly. Curcumin, demethoxycurcumin, and bisdemethoxycurcumin each bound iron-NTA-agarose with comparable affinities and a stoichiometry near 1...
August 11, 2017: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/28801072/irinotecan-chemotherapy-induced-intestinal-oxidative-stress-underlying-causes-of-disturbed-mucosal-water-and-electrolyte-transport
#8
Kaïs Rtibi, Slimen Selmi, Dhekra Grami, Hichem Sebai, Mohamed Amri, Lamjed Marzouki
Irinotecan, a chemotherapy drug, can cause acute diarrhea immediately after administration. Hence, the present study was designed to investigate the gastrointestinal (GI) disturbances after an intraperitoneal (IP) administration of irinotecan in rats.Twenty Wistar rats were separated into two groups of ten. Group A was considered as a control group (NaCl, 0.9%). Group B was treated with irinotecan at a single dose of 200mgkg(-1). The rats were observed for defecation. For the enteropooling test, the animals were sacrificed by decapitation 1h post-treatment...
July 23, 2017: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/28796976/-hfeprotein-impact-on-iron-metabolism
#9
Barbara Kaczorowska-Hać, Jan Jacek Kaczor
Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual with an influence of individual and environmental factors. Despite the fact that HFE variants are widespread, its impact still remains unknown. The article reviews the literature considering the role of HFE gene mutations regarding its impact in children...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28794066/insights-into-cellular-and-molecular-basis-for-urinary-tract-infection-in-autosomal-dominant-polycystic-kidney-disease
#10
Chao Gao, Long Zhang, Ye Zhang, Darren Paul Wallace, Reynold I Lopez-Soler, Paul J Higgins, Wenzheng Zhang
Urinary tract infection (UTI) is a broad term referring to an infection of the kidneys, ureters, bladder and/or urethra. Due to its prevalence, frequent recurrence and rising resistance to antibiotics, UTI has become a challenge in clinical practice. Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic disorder of the kidney and is characterized by the growth of fluid-filled cysts in both kidneys. Progressive cystic enlargement, inflammation and interstitial fibrosis result in nephron loss with subsequent decline in kidney function...
August 9, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28793778/peroxiredoxin-2-a-novel-regulator-of-iron-homeostasis-in-ineffective-erythropoiesis
#11
Alessandro Matte, Luigia De Falco, Enrica Federti, Anna Cozzi, Achille Iolascon, Sonia Levi, Narla Mohandas, Alberto Zamo, Mariasole Bruno, Christophe Leboeuf, Anne Janin, Angela Siciliano, Thomas Ganz, Giorgia Federico, Francesca Carlomagno, Sebastian Mueller, Ines Silva, Carmine Carbone, Davide Melisi, D W Kim, Soo Young Choi, Lucia DE Franceschi
AIMS: Iron-overload (IO) is a life-threatening complication of chronic hemolytic disorders such as β-thalassemia. IO results in severe cellular oxidative damage, leading to organ failure. Peroxiredoxin-2 (Prx2), a typical 2-cysteine-(Cys)-peroxiredoxin, is an important component of cyto-protective system, but its response to IO is still to be fully defined. RESULTS: We studied the effects of IO on Prx2-knockout mice (Prx2-/-). The absence of Prx2 enhanced toxicity due to IO on erythropoiesis...
August 10, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28792913/iron-in-neurodegenerative-disorders-being-in-the-wrong-place-at-the-wrong-time
#12
Sotirios Apostolakis, Anna-Maria Kypraiou
Brain iron deposits have been reported consistently in imaging and histologic examinations of patients with neurodegenerative disorders. While the origins of this finding have not been clarified yet, it is speculated that impaired iron homeostasis or deficient transport mechanisms result in the accumulation of this highly toxic metal ultimately leading to formation of reactive oxygen species and cell death. On the other hand, there are also those who support that iron is just an incidental finding, a by product of neuronal loss...
August 9, 2017: Reviews in the Neurosciences
https://www.readbyqxmd.com/read/28792693/serum-hepcidin-levels-in-multiple-myeloma
#13
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/28777180/sleep-wake-disorders-of-childhood
#14
Suresh Kotagal
PURPOSE OF REVIEW: Sleep-wake disorders occur in 10% to 28% of children and differ somewhat in pathophysiology and management from sleep-wake disorders in adults. This article discusses the diagnosis and management of key childhood sleep disorders. RECENT FINDINGS: The role of sleep in memory consolidation and in the facilitation of learning has been increasingly recognized, even at the toddler stage. Cataplexy, a key feature of narcolepsy type 1, may be subtle in childhood and characterized by transient muscle weakness isolated to the face...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28777173/restless-legs-syndrome-and-sleep-related-movement-disorders
#15
Lynn Marie Trotti
PURPOSE OF REVIEW: This article provides an update on six sleep-related movement disorders: restless legs syndrome (RLS), periodic limb movement disorder, sleep-related leg cramps, bruxism, rhythmic movement disorder, and propriospinal myoclonus, with an emphasis on RLS. RECENT FINDINGS: RLS is a common sensorimotor disorder that impairs quality of life. RLS is frequently comorbid to neurologic, psychiatric, vascular, and inflammatory diseases. Accumulating evidence implicates the pathophysiology of RLS as a state of dopamine dysfunction and iron deficiency that occurs on a background of genetic susceptibility conferred by 6 gene polymorphisms...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28774421/thalassaemia
#16
REVIEW
Ali T Taher, David J Weatherall, Maria Domenica Cappellini
Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of α-thalassaemia and β-thalassaemia, including the co-inheritance of β-thalassaemia with haemoglobin E resulting in haemoglobin E/β-thalassaemia, have been described. The disease hallmarks include imbalance in the α/β-globin chain ratio, ineffective erythropoiesis, chronic haemolytic anaemia, compensatory haemopoietic expansion, hypercoagulability, and increased intestinal iron absorption...
July 31, 2017: Lancet
https://www.readbyqxmd.com/read/28772256/non-syndromic-childhood-onset-congenital-sideroblastic-anemia-a-report-of-13-patients-identified-with-an-alas2-or-slc25a38-mutation
#17
Marie-Amelyne Le Rouzic, Cyrielle Fouquet, Thierry Leblanc, Mohamed Touati, Fanny Fouyssac, Christiane Vermylen, Nadja Jäkel, Jean-François Guichard, Karim Maloum, Fabienne Toutain, Patrick Lutz, Yves Perel, Hana Manceau, Caroline Kannengiesser, Jean-Pierre Vannier
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the development of children. Our multicentre retrospective descriptive study compared the strategies for diagnosis and management of congenital sideroblastic anemia during the follow-up of six patients with an ALAS2 mutation and seven patients with an SLC25A38 mutation...
July 26, 2017: Blood Cells, Molecules & Diseases
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
#18
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/28762473/late-diagnosis-and-atypical-brain-imaging-of-aicardi-gouti%C3%A3-res-syndrome-are-we-failing-to-diagnose-aicardi-gouti%C3%A3-res-syndrome-2
#19
Leah Svingen, Mitchell Goheen, Rena Godfrey, Colleen Wahl, Eva H Baker, William A Gahl, May Christine V Malicdan, Camilo Toro
Aicardi-Goutières syndrome (AGS) is a rare disorder with in utero or postnatal onset of encephalopathy and progressive neurological deterioration. The seven genetic subtypes of AGS are associated with abnormal type I interferon-mediated innate immune response. Most patients with AGS present with progressive microcephaly, spasticity, and cognitive impairment. Some, especially those with type 2 (AGS2), manifest milder phenotypes, reduced childhood mortality, and relative preservation of physical and cognitive abilities...
August 1, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28762254/the-effects-of-prenatal-iron-deficiency-and-risperidone-treatment-on-the-rat-frontal-cortex-%C3%A2-a-proteomic-analysis
#20
Lorna Farrelly, Maria Victoria Rosato-Siri, Melanie Föcking, Martin Codagnone, Analia Reines, Patrick Dicker, Kieran Wynne, Michael Farrell, Mary Cannon, Gerard Cagney, Juana Maria Pasquini, David R Cotter
Prenatal iron deficiency (pID) has been described to increase the risk for neurodevelopmental disorders such as autism and schizophrenia; however, the precise molecular mechanisms are still unknown. Here, we utilized high throughput mass spectrometry to examine the proteomic effects of pID in adulthood on the rat frontal cortex area (FCA). In addition, the FCA proteome was examined in adulthood following risperidone treatment in adolescence to see if these effects could be prevented. We identified 1501 proteins of which 100 were significantly differentially expressed in the FCA at post-natal day 90...
July 31, 2017: Proteomics
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