keyword
MENU ▼
Read by QxMD icon Read
search

Iron disorders

keyword
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#1
REVIEW
Chin Fang Ngim, Nai Ming Lai, Janet Yh Hong, Shir Ley Tan, Amutha Ramadas, Premala Muthukumarasamy, Meow-Keong Thong
BACKGROUND: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Growth hormone deficiency is one of the factors that can lead to short stature, a common complication in people with thalassaemia...
September 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28920821/serum-ferritin-concentration-is-not-a-reliable-biomarker-of-iron-overload-disorder-progression-or-hemochromatosis-in-the-sumatran-rhinoceros-dicerorhinus-sumatrensis
#2
Terri L Roth, Paul R Reinhart, Jennifer L Kroll
The aim of this study was to determine if ferritin is a reliable biomarker of iron overload disorder (IOD) progression and hemochromatosis in the Sumatran rhinoceros (Dicerorhinus sumatrensis) by developing a species-specific ferritin assay and testing historically banked samples collected from rhinos that did and did not die of hemochromatosis. Ferritin extracted from Sumatran rhino liver tissue was used to generate antibodies for the Enzyme Immunoassay. Historically banked Sumatran rhino serum samples (n = 298) obtained from six rhinos in US zoos (n = 290); five rhinos at the Sumatran Rhino Conservation Centre in Sungai Dusun, Malaysia (n = 5); and two rhinos in Sabah, Malaysia (n = 3) were analyzed for ferritin concentrations...
September 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28919507/tissue-engineered-magnetic-cell-sheet-patches-for-advanced-strategies-in-tendon-regeneration
#3
Ana I Gonçalves, Márcia T Rodrigues, Manuela E Gomes
Tendons are powerful 3D biomechanically structures combining a few cells in an intrincated and highly hierarchical niche environment. When tendon homeostasis is compromised, restoration of functionality upon injury is limited and requires alternatives to current augmentation or replacement strategies. Cell sheet technologies are a powerful tool for the fabrication of living extracellular-rich patches towards regeneration of tenotopic defects. Thus, we originally propose the development of magnetically responsive tenogenic patches through magnetic cell sheet (magCSs) technology that enable the remote control upon implantation of the tendon-mimicking constructs...
September 14, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28919117/global-regional-and-national-incidence-prevalence-and-years-lived-with-disability-for-328-diseases-and-injuries-for-195-countries-1990-2016-a-systematic-analysis-for-the-global-burden-of-disease-study-2016
#4
(no author information available yet)
BACKGROUND: As mortality rates decline, life expectancy increases, and populations age, non-fatal outcomes of diseases and injuries are becoming a larger component of the global burden of disease. The Global Burden of Diseases, Injuries, and Risk Factors Study 2016 (GBD 2016) provides a comprehensive assessment of prevalence, incidence, and years lived with disability (YLDs) for 328 causes in 195 countries and territories from 1990 to 2016. METHODS: We estimated prevalence and incidence for 328 diseases and injuries and 2982 sequelae, their non-fatal consequences...
September 16, 2017: Lancet
https://www.readbyqxmd.com/read/28913435/iba57-mutations-abrogate-iron-sulfur-cluster-assembly-leading-to-cavitating-leukoencephalopathy
#5
Akihiko Ishiyama, Chika Sakai, Yuichi Matsushima, Satoru Noguchi, Satomi Mitsuhashi, Yukari Endo, Yukiko K Hayashi, Yoshiaki Saito, Eiji Nakagawa, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Noriko Sato, Ikuya Nonaka, Yu-Ichi Goto, Ichizo Nishino
OBJECTIVE: To determine the molecular factors contributing to progressive cavitating leukoencephalopathy (PCL) to help resolve the underlying genotype-phenotype associations in the mitochondrial iron-sulfur cluster (ISC) assembly system. METHODS: The subjects were 3 patients from 2 families who showed no inconsistencies in either clinical or brain MRI findings as PCL. We used exome sequencing, immunoblotting, and enzyme activity assays to establish a molecular diagnosis and determine the roles of ISC-associated factors in PCL...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28905365/iron-storage-in-liver-bone-marrow-and-splenic-gaucheroma-reflects-residual-disease-in-type-1-gaucher-disease-patients-on-treatment
#6
Martine Regenboog, Anneloes E Bohte, Erik M Akkerman, Jaap Stoker, Carla E M Hollak
Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging. Forty type 1 GD (GD1) patients and 40 matched healthy controls were examined using a whole-body magnetic resonance imaging protocol consisting of standard sequences, allowing analysis of iron content per organ, expressed as R2* (Hz)...
September 14, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28902419/reassessing-the-safety-concerns-of-utilizing-blood-donations-from-patients-with-hemochromatosis
#7
REVIEW
Adam C Winters, Douglas Tremblay, Suzanne Arinsburg, John Mascarenhas, Thomas D Schiano
Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism which may lead to iron overload. Clinical penetrance is low, however those afflicted may develop cirrhosis, hepatocellular carcinoma, diabetes mellitus and cardiomyopathy. Treatment involves regular phlebotomy to reduce the systemic iron burden. In many countries-including the United States-numerous blood centers do not accept donated blood obtained from HH patients during therapeutic phlebotomy and there are inconsistent positions regarding this globally...
September 13, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28900391/quantitative-susceptibility-mapping-reveals-an-association-between-brain-iron-load-and-depression-severity
#8
Shun Yao, Yi Zhong, Yuhao Xu, Jiasheng Qin, Ningning Zhang, Xiaolan Zhu, Yuefeng Li
Previous studies have detected abnormal serum ferritin levels in patients with depression; however, the results have been inconsistent. This study used quantitative susceptibility mapping (QSM) for the first time to examine brain iron concentration in depressed patients and evaluated whether it is related to severity. We included three groups of age- and gender-matched participants: 30 patients with mild-moderate depression (MD), 14 patients with major depression disorder (MDD) and 20 control subjects. All participants underwent MR scans with a 3D gradient-echo sequence reconstructing for QSM and performed the 17-item Hamilton Depression Rating Scale (HDRS) test...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28899286/restless-legs-syndrome-related-to-hemorrhage-of-a-thoracic-spinal-cord-cavernoma
#9
Malik Hamdaoui, Elisabeth Ruppert, Henri Comtet, Ulker Kilic-Huck, Valérie Wolff, Marc Bataillard, Patrice Bourgin
CONTEXT: Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible urge to move the lower limbs often accompanied by unpleasant sensations in the legs, worsened at rest and in the evening. Symptoms are improved by movement. Its pathophysiology remains poorly understood. Lesion-related RLS has been reported, mainly in cases of stroke-related RLS involving the brainstem and lenticulostriate nuclei. Only few data of RLS in a context of spinal cord injury have been reported...
September 12, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28895280/addition-of-oral-iron-to-plasma-transfusion-in-human-congenital-hypotransferrinemia-a-10-year-observational-follow-up-with-the-effects-on-hematological-parameters-and-growth
#10
Deniz Aslan
Congenital hypotransferrinemia (OMIM 209300) is an extremely rare disorder of inherited iron metabolism. Since its description in 1961, only 16 cases have been reported. The defective gene and molecular defect causing this disorder and clinicolaboratory findings seen in the homozygous and heterozygous states have been documented in both humans and mice. However, due to the lack of follow-up studies of the described cases, the long-term prognosis remains unknown. We present a 10-year observational follow-up of a patient previously diagnosed on a molecular basis who was treated with a unique therapy of plasma transfusion fortified with oral iron, with satisfactory clinicolaboratory responses...
September 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28889277/neurodegeneration-induced-by-metals-in-caenorhabditis-elegans
#11
Felix Antunes Soares, Daiandra Almeida Fagundez, Daiana Silva Avila
Metals are a component of a variety of ecosystems and organisms. They can generally be divided into essential and nonessential metals. The essential metals are involved in physiological processes once the deficiency of these metals has been associated with diseases. Although iron, manganese, copper, and zinc are important for life, it has been evidenced that they are also involved in neuronal damage in many neurodegenerative disorders. Nonessential metals, which are metals without physiological functions, are present in trace or higher levels in living organisms...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28889271/neurotoxicity-of-metal-mixtures
#12
V M Andrade, M Aschner, A P Marreilha Dos Santos
Metals are the oldest toxins known to humans. Metals differ from other toxic substances in that they are neither created nor destroyed by humans (Casarett and Doull's, Toxicology: the basic science of poisons, 8th edn. McGraw-Hill, London, 2013). Metals are of great importance in our daily life and their frequent use makes their omnipresence and a constant source of human exposure. Metals such as arsenic [As], lead [Pb], mercury [Hg], aluminum [Al] and cadmium [Cd] do not have any specific role in an organism and can be toxic even at low levels...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28886909/quantitative-susceptibility-mapping-differentiates-between-parkinsonian-disorders
#13
Henrik Sjöström, Tobias Granberg, Eric Westman, Per Svenningsson
INTRODUCTION: It is often challenging to clinically distinguish between Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). Quantitative susceptibility mapping (QSM) is an accurate indirect method for estimating brain iron levels in vivo. This method has yet to be applied in atypical parkinsonism. We aimed to investigate differences in brain iron accumulation parkinsonian disorders and healthy controls using QSM. METHODS: 15 patients with PSP, 11 patients with MSA, 62 patients with PD and 14 healthy controls were included in the study and their phase and magnitude data from susceptibility-weighted magnetic resonance imaging were retrospectively analyzed with an in-house pipeline to create susceptibility maps...
September 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28885776/monitoring-of-transferrin-isoforms-in-biological-samples-by-capillary-electrophoresis
#14
REVIEW
Jitka Caslavska, Wolfgang Thormann
Work dealing with the monitoring of transferrin isoforms in human serum and other body fluids by capillary electrophoresis is reviewed. It comprises capillary zone electrophoresis and capillary isoelectric focusing efforts that led to the exploration and use of assays for the determination of carbohydrate-deficient transferrin as marker for excessive alcohol intake, genetic variants of transferrin, congenital disorders of glycosylation and β-2-transferrin, which is a marker for cerebrospinal fluid leakage...
September 8, 2017: Journal of Separation Science
https://www.readbyqxmd.com/read/28880525/mitoneet-cisd1-knockout-mice-show-signs-of-striatal-mitochondrial-dysfunction-and-a-parkinson-s-disease-phenotype
#15
Werner J Geldenhuys, Stanley A Benkovic, Li Lin, Heather M Yonutas, Samuel D Crish, Patrick G Sullivan, Altaf S Darvesh, Candice M Brown, Jason Richardson
Mitochondrial dysfunction is thought to play a significant role in neurodegeneration observed in Parkinson's disease (PD), yet the mechanisms underlying this pathology remain unclear. Here, we demonstrate that loss of mitoNEET (CISD1), an iron-sulfur containing protein which regulates mitochondrial bioenergetics, results in mitochondrial dysfunction and loss of striatal dopamine and tyrosine hydroxylase. Mitochondria isolated from mice lacking mitoNEET were dysfunctional as revealed by elevated reactive oxygen species (ROS) and reduced capacity to produce ATP...
September 7, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28874701/restless-legs-syndrome-in-parkinson-disease-clinical-characteristics-abnormal-iron-metabolism-and-altered-neurotransmitters
#16
Ying-Shan Piao, Teng-Hong Lian, Yang Hu, Li-Jun Zuo, Peng Guo, Shu-Yang Yu, Li Liu, Zhao Jin, Hui Zhao, Li-Xia Li, Qiu-Jin Yu, Rui-Dan Wang, Sheng-Di Chen, Piu Chan, Xiao-Min Wang, Wei Zhang
Relationships among clinical characteristics, iron metabolism and neurotransmitters in Parkinson disease (PD) patients with restless legs syndrome (RLS) remains unclear. We divided 218 patients into PD with and with no RLS (PD-RLS and PD-NRLS) groups by RLS-rating scale (RLS-RS) score. Motor and non-motor symptoms were rated by related scales. Iron and related proteins, and neurotransmitters in cerebrospinal fluid (CSF) and serum were measured. PD-RLS frequency was 40.37%. PD-RLS group had longer duration, higher stage and scores of motor symptoms, depression, anxiety, sleep disorders, fatigue and apathy, and increased transferrin and decreased iron, ferritin, dopamine (DA) and 5-hydroxytryptamine (5-HT) in CSF...
September 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28869469/trehalose-improves-cognition-in-the-transgenic-tg2576-mouse-model-of%C3%A2-alzheimer-s-disease
#17
Stuart D Portbury, Dominic J Hare, Charlotte Sgambelloni, Kali Perronnes, Ashley J Portbury, David I Finkelstein, Paul A Adlard
This study assessed the therapeutic utility of the autophagy enhancing stable disaccharide trehalose in the Tg2576 transgenic mouse model of Alzheimer's disease (AD) via an oral gavage of a 2% trehalose solution for 31 days. Furthermore, as AD is a neurodegenerative condition in which the transition metals, iron, copper, and zinc, are understood to be intricately involved in the cellular cascades leading to the defining pathologies of the disease, we sought to determine any parallel impact of trehalose treatment on metal levels...
August 30, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28866787/iron-metabolism-and-its-detection-through-mri-in-parkinsonian-disorders-a-systematic-review
#18
REVIEW
Sara Pietracupa, Antonio Martin-Bastida, Paola Piccini
Iron deposition in the brain normally increase with age, but its accumulation in certain regions is observed in a number of neurodegenerative diseases including Parkinson's disease (PD) and other parkinsonisms. Whether iron overload leads to dopaminergic neuronal death in the SN of PD patients or is instead simply a by-product of the neurodegenerative progression is still yet to be ascertained. Magnetic resonance imaging (MRI) is a non-invasive method to assess brain iron content in PD patients. In PD, accurate radiologic visualization of basal ganglia is required...
September 2, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28865234/impact-of-seminal-plasma-trace-elements-on-human-sperm-motility-parameters
#19
Mohammad Mostakhdem Hashemi, Nasser Behnampour, Mojgan Nejabat, Afsaneh Tabandeh, Behrouz Ghazi-Moghaddam, Hamid Reza Joshaghani
INTRODUCTION: Human seminal plasma contains a variety of macro and trace elements including magnesium(Mg), copper(Cu), zinc(Zn), and iron(Fe) that have essential roles in normal functioning of semen and its quality. The imbalance of these elements have been reported in several pathologic and male infertility disorders. Therefore, this study aimed to determine the levels of these elements in seminal plasma samples, their relationships with each other and their impact on sperm motility...
August 28, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/28864813/the-immunophilin-fkbp12-inhibits-hepcidin-expression-by-binding-the-bmp-type-i-receptor-alk2-in-hepatocytes
#20
Silvia Colucci, Alessia Pagani, Mariateresa Pettinato, Irene Artuso, Antonella Nai, Clara Camaschella, Laura Silvestri
The expression of the key regulator of iron homeostasis hepcidin is activated by the BMP-SMAD pathway in response to iron and inflammation and among drugs, by rapamycin, which inhibits mTOR in complex with the immunophilin FKBP12. FKBP12 interacts with BMP type I receptors to avoid uncontrolled signaling. By pharmacologic and genetic studies we identify FKBP12 as a novel hepcidin regulator. Sequestration of FKBP12 by rapamycin or tacrolimus activates hepcidin both in vitro and in murine hepatocytes. Acute tacrolimus treatment transiently increases hepcidin in wild type mice...
September 1, 2017: Blood
keyword
keyword
26067
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"