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Iron disorders

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https://www.readbyqxmd.com/read/29780118/a-10-year-follow-up-study-of-a-japanese-family-with-ferroportin-disease-a-mild-iron-overload-with-mild-hyperferritinemia-co-occurring-with-hyperhepcidinemia-may-be-benign
#1
Hisao Hayashi, Motoyoshi Yano, Naohito Urawa, Akane Mizutani, Shima Hamaoka, Jun Araki, Yuji Kojima, Yutaka Naito, Ayako Kato, Yasuaki Tatsumi, Koichi Kato
This is a 10-year follow-up study of a family with ferroportin disease A. The proband, a 59-year-old man showed no noteworthy findings with the exception of an abnormal iron level. The proband's 90-year-old father showed reduced abilities in gait and cognition; however, with the exception of his iron level, his biochemistry results were almost normal. Brain imaging showed age-matched atrophy and iron deposition. In both patients, the serum levels of ferritin and hepcidin25, and liver CT scores declined over a 10-year period...
May 18, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29773950/could-autism-be-associated-with-nutritional-status-in-the-palestinian-population-the-outcomes-of-the-palestinian-micronutrient-survey
#2
Mohammad Altamimi
Background: Autism spectrum disorder is a neurodevelopmental disorder. It is believed that the cause of autism is multifactorial, where genetic predispositions interact with environmental factors. In this context, micronutrients play a crucial role. Objective: To present evidence on current micronutrient status in Palestine and highlight its possible role in increasing problems of neurodevelopment disorders in general and autism in particular. Method: Analytical review of results...
2018: Nutrition and Metabolic Insights
https://www.readbyqxmd.com/read/29773347/lipophilic-methylene-blue-analogues-enhance-mitochondrial-function-and-increase-frataxin-levels-in-a-cellular-model-of-friedreich-s-ataxia
#3
Omar M Khdour, Indrajit Bandyopadhyay, Sandipan Roy Chowdhury, Nishant P Visavadiya, Sidney M Hecht
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder resulting from reduced expression of the protein frataxin (FXN). Although its function is not fully understood, frataxin appears to help assemble iron sulfur clusters; these are critical for the function of many proteins, including those needed for mitochondrial energy production. Finding ways to increase FXN levels has been a major therapeutic strategy for this disease. Previously, we described a novel series of methylene violet analogues and their structural optimization as potential therapeutic agents for neurodegenerative and mitochondrial disorders...
May 4, 2018: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/29771368/restless-sleep-disorder-in-children-a-pilot-study-on-a-tentative-new-diagnostic-category
#4
Lourdes M DelRosso, Oliviero Bruni, Raffaele Ferri
Study Objectives: A group of children with "restless sleep" who do not fit the criteria for any other sleep disorder but with daytime impairment are studied to identify restless sleep disorder (RSD) clinically and polysomnographically and to differentiate it from other sleep disorders of childhood. Methods: A pilot study of 15 school aged children with restless sleep and 15 sex and age matched children with restless leg syndrome (RLS) and 37 normal controls were included...
May 16, 2018: Sleep
https://www.readbyqxmd.com/read/29769185/unusual-case-of-iron-overload-with-cancer-mimicking-abdominal-splenosis
#5
Giacomo Marchi, Giacomo Avesani, Alberto Zamò, Domenico Girelli
A 48-year-old man, former alcohol abuser and drug addicted, was referred to our tertiary referral centre for iron disorders because of marked hyperferritinaemia. His clinical history revealed chronic hepatitis C, ß-thalassaemia trait and post-traumatic splenectomy at age of 22. MRI-estimated liver iron content was markedly elevated, while first-line genetic test for haemochromatosis was negative. Alpha-fetoprotein was increased but liver ultrasonography did not reveal focal liver lesions. Multiphasic contrast-enhanced CT confirmed this result but showed two abdominal masses (diameter of 9 cm and 7 cm, respectively) among bowel loops, strongly suspicious for cancer...
May 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29768385/low-pg-i-ii-ratio-as-a-marker-of-atrophic-gastritis-association-with-nutritional-and-metabolic-status-in-healthy-people
#6
Weiwei Su, Bin Zhou, Guangming Qin, Zhihao Chen, Xiaoge Geng, Xiaojun Chen, Wensheng Pan
A low pepsinogen (PG) I/II ratio can be used to detect atrophic gastritis (AG). Recent research has found that the PG I/II ratio is associated with several nutritional and metabolic disorders. The aim of this study is to investigate the relationship between the PG I/II ratio and biochemical markers in a Chinese population.In total, 1896 participants in a gastric cancer screening program underwent a health screening test that included assessment of serum pepsinogens. Subjects with PG I/II < 3.0 were considered as having atrophic gastritis...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29767814/inborn-errors-of-coenzyme-a-metabolism-and-neurodegeneration
#7
Ivano Di Meo, Miryam Carecchio, Valeria Tiranti
Two inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway...
May 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29765934/autoimmune-gastritis-in-the-pediatric-age-an-underestimated-condition-report-of-two-cases-and-review
#8
Chiara Saglietti, Amedeo Sciarra, Karim Abdelrahman, Vanessa Schneider, Arti Karpate, Andreas Nydegger, Christine Sempoux
Background: Diagnosis of pediatric autoimmune gastritis (AIG) in children is important due to poor outcome and risk of malignancy. This condition is often underestimated in the clinico-pathologic diagnostic work-up, leading to delayed time-to-diagnosis. To increase the awareness of this condition in the pediatric population, we present two cases encountered at our institution, discuss their clinical, biological, and histological presentations in relation with evidence from the literature, and propose an algorithm for diagnosis and follow-up of AIG in children...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29765892/botulinum-toxin-a-injection-in-the-treatment-of-spasticity-in-a-infantile-onset-neurodegeneration-with-brain-iron-accumulation-a-case-report
#9
Hwan Kwon Do, Geun Yeol Jo, Jun Koo Kwon, Woo Jin Kim
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting PANK2 mutation...
April 2018: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/29765716/synthesis-and-crystal-structure-of-deca-carbon-yl-%C3%AE-3-3-7-di-thia-nonane-1-9-di-thiol-ato-bis-%C3%AE-2-propane-1-3-di-thiol-ato-nickel-ii-tetra-iron-ii-di-chloro-methane-disolvate
#10
Gan Ren, Ge Sang
The title compound,, [Fe4 Ni(C3 H6 S2 )2 (C7 H14 S4 )(CO)10 ]·2CH2 Cl2 , is reported as a biomimic model for the active site of [FeFe]-hydrogenases. Bis(2-mercaptoeth-yl)-1,3-propane-dithio ether nickel(II) was firstly introduced into [Fe2 (C3 H6 S2 )(CO)5 ] as an S-containing ligand. It coordinates with two [Fe2 (C3 H6 S2 )(CO)5 ] groups, and a five-metal core complex is formed. The Fe2 S2 core is in a butterfly conformation. The Fe-Fe distances in the [Fe2 (C3 H6 S2 )(CO)5 ] groups are 2.5126 (6) and 2...
March 1, 2018: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/29765708/crystal-structure-of-octa-kis-4-meth-oxy-pyridinium-bis-4-meth-oxy-pyridine-%C3%AE%C2%BA-n-tetra-kis-thio-cyanato-%C3%AE%C2%BA-n-ferrate-iii-bis-4-meth-oxypyri-dine-%C3%AE%C2%BA-n-pentakis-thio-cyanato-%C3%AE%C2%BA-n-ferrate-iii-hexa-kis-thio-cyanato-%C3%AE%C2%BA-n-ferrate-iii-with-iron-in-three-different
#11
Aleksej Jochim, Inke Jess, Christian Näther
The crystal structure of the title salt, (C6 H8 NO)8 [Fe(NCS)4 (C6 H7 NO)2 ][Fe(NCS)5 (C6 H7 NO)]2 [Fe(NCS)6 ], comprises three negatively charged octa-hedral FeIII complexes with different coordination environments in which the FeIII atoms are coordinated by a different number of thio-cyanate anions and 4-meth-oxy-pyridine ligands. Charge balance is achieved by 4-meth-oxy-pyridinium cations. The asymmetric unit consists of three FeIII cations, one of which is located on a centre of inversion, one on a twofold rotation axis and one in a general position, and ten thio-cyanate anions, two 4-meth-oxy-pyridine ligands and 4-meth-oxy-pyridinium cations (one of which is disordered over two sets of sites)...
March 1, 2018: Acta Crystallographica. Section E, Crystallographic Communications
https://www.readbyqxmd.com/read/29765443/management-of-cardiac-hemochromatosis
#12
Wilbert S Aronow
Iron-overload syndromes may be hereditary or acquired. Patients may be asymptomatic early in the disease. Once heart failure develops, there is rapid deterioration. Cardiac hemochromatosis is characterized by a dilated cardiomyopathy with dilated ventricles, reduced ejection fraction, and reduced fractional shortening. Deposition of iron may occur in the entire cardiac conduction system, especially the atrioventricular node. Cardiac hemochromatosis should be considered in any patient with unexplained heart failure...
April 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29763925/the-influence-of-hyperlipidemia-on-endothelial-function-of-fpn1-tek-cre-mice-and-the-intervention-effect-of-tetramethylpyrazine
#13
Ming-Yue Sun, Miao Zhang, Shui-Ling Chen, Shu-Ping Zhang, Chun-Yu Guo, Jing-Shang Wang, Xin Liu, Yang Miao, Hui-Jun Yin
BACKGROUND/AIMS: Systemic iron homeostasis is strictly governed in mammals; however, disordered iron metabolism (such as excess iron burden) is recognized as a risk factor for various types of diseases including AS (Atherosclerosis). The hepcidin-ferroportin axis plays the key role in regulation of iron homeostasis and modulation of this signaling could be a potential therapeutic strategy in the treatment of these diseases. TMP (Tetramethylpyrazine) has been reported to have therapeutical effect on AS...
May 9, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29763365/effect-of-cross-linked-chitosan-iron-iii-on-vascular-calcification-in-uremic-rats
#14
Barbara Bruna Abreu de Castro, Wander Barros do Carmo, Paulo Giovani de Albuquerque Suassuna, Moises Carminatti, Julia Bianchi Brito, Wagner Vasques Dominguez, Ivone Braga de Oliveira, Vanda Jorgetti, Melani Ribeiro Custodio, Helady Sanders-Pinheiro
Cross-linked chitosan iron (III) is a chitin-derived polymer with a chelating effect on phosphorus, but it is untested in vascular calcification. We evaluated this compound's ability to reduce hyperphosphatemia and its effect on vascular calcification in uremic rats using an adenine-based, phosphorus-rich diet for seven weeks. We used a control group to characterize the uremia. Uremic rats were divided according the treatment into chronic kidney disease, CKD-Ch-Fe(III)CL (CKD-Ch), CKD-calcium carbonate, or CKD-sevelamer groups...
May 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29756335/treatment-of-restless-legs-syndrome-evidence-based-review-and-implications-for-clinical-practice-revised-2017-%C3%A2
#15
REVIEW
Juliane Winkelmann, Richard P Allen, Birgit Högl, Yuichi Inoue, Wolfgang Oertel, Aaro V Salminen, John W Winkelman, Claudia Trenkwalder, Cristina Sampaio
The objective of the current review was to update the previous evidence-based medicine review of treatments for restless legs syndrome published in 2008. All randomized, controlled trials (level I) with a high quality score published between January 2007 and January 2017 were reviewed. Forty new studies qualified for efficacy review. Pregabalin, gabapentin enacarbil, and oxycodone/naloxone, which did not appear in the previous review, have accrued data to be considered efficacious. Likewise, new data enable the modification of the level of efficacy for rotigotine from likely efficacious to efficacious...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29756231/susceptibility-mri-captures-nigral-pathology-in-patients-with-parkinsonian-syndromes
#16
Mechelle M Lewis, Guangwei Du, Jennifer Baccon, Amanda M Snyder, Ben Murie, Felicia Cooper, Christy Stetter, Lan Kong, Christopher Sica, Richard B Mailman, James R Connor, Xuemei Huang
BACKGROUND: Parkinsonisms are neurodegenerative disorders characterized pathologically by α-synuclein-positive (e.g., PD, diffuse Lewy body disease, and MSA) and/or tau-positive (e.g., PSP, cortical basal degeneration) pathology. Using R2* and quantitative susceptibility mapping, susceptibility changes have been reported in the midbrain of living parkinsonian patients, although the exact underlying pathology of these alterations is unknown. OBJECTIVE: The current study investigated the pathological correlates of these susceptibility MRI measures...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29755708/growth-and-endocrine-function-in-tunisian-thalassemia-major-patients
#17
Naouel Guirat Dhouib, Monia Ben Khaled, Monia Ouederni, Habib Besbes, Ridha Kouki, Fethi Mellouli, Mohamed Bejaoui
β-thalassemia major (β-TM) is among the most common hereditary disorders imposing high expenses on health-care system worldwide. The patient's survival is dependent on lifetime blood transfusion which leads to iron overload and its toxicity in various organs including endocrine glands. This article provides an overview of endocrine disorders in beta-TM patients. This single center investigation enrolled 28 β-TM patients (16 males, 12 females) regularly transfused with packed red cell since early years of life...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29755443/genomic-organization-and-expression-of-iron-metabolism-genes-in-the-emerging-pathogenic-mold-scedosporium-apiospermum
#18
Yohann Le Govic, Nicolas Papon, Solène Le Gal, Bénédicte Lelièvre, Jean-Philippe Bouchara, Patrick Vandeputte
The ubiquitous mold Scedosporium apiospermum is increasingly recognized as an emerging pathogen, especially among patients with underlying disorders such as immunodeficiency or cystic fibrosis (CF). Indeed, it ranks the second among the filamentous fungi colonizing the respiratory tract of CF patients. However, our knowledge about virulence factors of this fungus is still limited. The role of iron-uptake systems may be critical for establishment of Scedosporium infections, notably in the iron-rich environment of the CF lung...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29754768/mutations-in-ppcs-encoding-phosphopantothenoylcystein-synthetase-cause-autosomal-recessive-dilated-cardiomyopathy
#19
Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Grigat, Thomas Schwarzmayr, Riccardo Berutti, Bader Alhaddad, Bart Kanon, Nicola A Grzeschik, Jürgen G Okun, Zeev Perles, Yishay Salem, Ortal Barel, Amir Vardi, Marina Rubinshtein, Tal Tirosh, Gal Dubnov-Raz, Ana C Messias, Caterina Terrile, Iris Barshack, Alex Volkov, Camilla Avivi, Eran Eyal, Elisa Mastantuono, Muhamad Kumbar, Shachar Abudi, Matthias Braunisch, Tim M Strom, Thomas Meitinger, Georg F Hoffmann, Holger Prokisch, Tobias B Haack, Bianca J J M Brundel, Dorothea Haas, Ody C M Sibon, Yair Anikster
Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps. Phosphopantothenoylcystein synthetase (PPCS) catalyzes the second step of the pathway during which phosphopantothenate reacts with ATP and cysteine to form phosphopantothenoylcystein. Inborn errors of CoA biosynthesis have been implicated in neurodegeneration with brain iron accumulation (NBIA), a group of rare neurological disorders characterized by accumulation of iron in the basal ganglia and progressive neurodegeneration...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29748849/correlations-between-abnormal-iron-metabolism-and-non-motor-symptoms-in-parkinson-s-disease
#20
Wu Xu, Yan Zhi, Yongsheng Yuan, Bingfeng Zhang, Yuting Shen, Hui Zhang, Kezhong Zhang, Yun Xu
Despite a growing body of evidence suggests that abnormal iron metabolism plays an important role in the pathogenesis of Parkinson's disease (PD), few studies explored its role in non-motor symptoms (NMS) of PD. The present study aimed to investigate the relationship between abnormal iron metabolism and NMS of PD. Seventy PD patients and 64 healthy controls were consecutively recruited to compare serum iron, ceruloplasmin, ferritin, and transferrin levels. We evaluated five classic NMS, including depression, anxiety, pain, sleep disorder, and autonomic dysfunction in PD patients using the Hamilton Depression Scale (HAMD), the Hamilton Anxiety Scale (HAMA), the short form of the McGill Pain Questionnaire, the Pittsburgh Sleep Quality Index and the Scale for Outcomes in Parkinson's disease for Autonomic Symptoms, respectively...
May 10, 2018: Journal of Neural Transmission
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