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https://www.readbyqxmd.com/read/29774528/slc40a1-and-cp-single-nucleotide-polymorphisms-in-porphyria-cutanea-tarda-patients-of-mixed-ancestry
#1
Isabella Brasil Succi, Luís Cristóvão Pôrto, Dayse Silva, Adriana Nascimento, Ronald Costa Neto, João Carlos Fonseca
Porphyria cutanea tarda (PCT) is a multifactorial disease; clinical expression depends on both genetic and acquired factors. Few studies have examined the connection between PCT and the regulation of iron metabolism genes other than the HFE gene. We selected five polymorphisms in the CYBRD1, CP, SLC40A1, and HAMP genes to determine whether these polymorphisms can act as genetic modulators in patients with sporadic PCT. None of the 29 patients carried the C282Y mutation. Genomic DNA from 29 PCT patients was isolated...
May 17, 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29771984/dna-methylation-of-hepatic-iron-sensing-genes-and-the-regulation-of-hepcidin-expression
#2
Paul A Sharp, Rachel Clarkson, Ahmed Hussain, Robert J Weeks, Ian M Morison
Production of the iron regulatory peptide hepcidin is tightly controlled by a network of proteins in hepatocytes that sense levels of iron in the circulation (as diferric-transferrin) and in tissues (in ferritin). Human studies show high variability in the normal range of serum hepcidin levels. We have postulated that this may, in part, be related to inter-individual variability in the expression of genes in the iron sensing pathway, potentially governed by epigenetic factors. Here, we have investigated whether genes encoding hepatic iron sensing proteins and hepcidin are regulated by DNA methylation...
2018: PloS One
https://www.readbyqxmd.com/read/29754583/validity-evidence-for-the-hamburg-multiple-mini-interview
#3
Mirjana Knorr, Anja Schwibbe, Maren Ehrhardt, Janina Lackamp, Stefan Zimmermann, Wolfgang Hampe
BACKGROUND: Multiple mini-interviews (MMI) become increasingly popular for the selection of medical students. In this work, we examine the validity evidence for the Hamburg MMI. METHODS: We conducted three follow-up studies for the 2014 cohort of applicants to medical school over the course of two years. We calculated Spearman's rank correlation (ρ) between MMI results and (1) emotional intelligence measured by the Trait Emotional Intelligence Questionnaire (TEIQue-SF) and the Situational Test of Emotion Management (STEM), (2) supervisors' and practice team members' evaluations of psychosocial competencies and suitability for the medical profession after a one-week 1:1 teaching in a general practice (GP) and (3) objective structured clinical examination (OSCE) scores...
May 14, 2018: BMC Medical Education
https://www.readbyqxmd.com/read/29753492/potential-impacts-of-hypoxia-and-a-warming-ocean-on-oyster-microbiomes
#4
Bushra Khan, Sandra M Clinton, Timothy J Hamp, James D Oliver, Amy H Ringwood
No abstract text is available yet for this article.
May 2, 2018: Marine Environmental Research
https://www.readbyqxmd.com/read/29745098/quality-assurance-protocol-for-superficial-and-deep-hyperthermia-systems-established-by-the-hellenic-association-of-medical-physicists-hamp-in-cooperation-with-the-hellenic-society-of-oncologic-hyperthemia-hsoh-a-study-based-on-european-society-for-hyperthermic
#5
Sotiria Triantopoulou, Kalliopi Platoni, Christos Antypas, Pantelis Karaiskos, Christina Armpilia, Nikolaos Uzunoglou, Vassilis Kouloulias
PURPOSE: During the last years hyperthermia is a developing therapeutic modality in Greece. Quality assurance (QA) procedures are essential for ensuring the correct operation of the hyperthermia system and therefore the selective heating of the tumor with minimum toxicity to the surrounding healthy tissues. The European Society for Hyperthermic Oncology (ESHO) has proposed QA guidelines for superficial as well as deep hyperthermia systems. The purpose of this study was to describe the adapted QA protocol for superficial and deep hyperthermia systems established in Greece...
March 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29745043/nomograms-incorporating-genetic-variants-in-bmp-smad4-hamp-pathway-to-predict-disease-outcomes-after-definitive-radiotherapy-for-non-small-cell-lung-cancer
#6
Ju Yang, Ting Xu, Daniel R Gomez, Xianglin Yuan, Quynh-Nhu Nguyen, Melenda Jeter, Yipeng Song, Ritsuko Komaki, Ye Hu, Stephen M Hahn, Zhongxing Liao
Hepcidin is crucial in regulating iron metabolism, and increased serum levels were strongly linked with poor outcomes in various malignancies. Thus, we investigated if genetic variants in the BMP/Smad4/Hamp hepcidin-regulating pathway were associated with outcomes in patients receiving definitive radiotherapy for NSCLC. Subjects were 664 NSCLC patients who received ≥60 Gy radiotherapy for NSCLC retrospectively identified from a single-institution database. Potentially, functional and tagging single nucleotide polymorphisms (SNPs) of BMP2 (rs170986, rs1979855, rs1980499, rs235768, and rs3178250), BMP4 (rs17563, rs4898820, and rs762642), Smad4 (rs12456284), and Hamp (rs1882694, rs10402233, rs10421768, and rs12971321) were genotyped by TaqMan real-time polymerase chain reaction...
May 9, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29743178/phenotypic-analysis-of-hemochromatosis-subtypes-reveals-variations-in-severity-of-iron-overload-and-clinical-disease
#7
Kam Sandhu, Kaledas Flintoff, Mark D Chatfield, Jeannette L Dixon, Louise E Ramm, Grant A Ramm, Lawrie W Powell, V Nathan Subramaniam, Daniel F Wallace
The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFE HH caused by mutations in the HJV , HAMP or TFR2 genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically confirmed HJV, HAMP and TFR2 HH was performed. Phenotypic and clinical data from a total of 156 subjects with non-HFE HH was extracted from 53 publications and compared with data from 984 subjects with HFE -p...
May 9, 2018: Blood
https://www.readbyqxmd.com/read/29728363/increased-hepatic-pdgf-aa-signaling-mediates-liver-insulin-resistance-in-obesity-associated-type-2-diabetes
#8
Amar Abderrahmani, Loïc Yengo, Robert Caiazzo, Mickaël Canouil, Stéphane Cauchi, Violeta Raverdy, Valérie Plaisance, Valérie Pawlowski, Stéphane Lobbens, Julie Maillet, Laure Rolland, Raphael Boutry, Gurvan Queniat, Maxime Kwapich, Mathie Tenenbaum, Julien Bricambert, Sophie Saussenthaler, Elodie Anthony, Pooja Jha, Julien Derop, Olivier Sand, Iandry Rabearivelo, Audrey Leloire, Marie Pigeyre, Martine Daujat-Chavanieu, Sabine Gerbal-Chaloin, Tasnim Dayeh, Guillaume Lassailly, Philippe Mathurin, Bart Staels, Johan Auwerx, Annette Schürmann, Catherine Postic, Clemens Schafmayer, Jochen Hampe, Amélie Bonnefond, François Pattou, Philippe Froguel
In type 2 diabetes (T2D), hepatic insulin resistance is strongly associated with non-alcoholic fatty liver disease (NAFLD). In this study, we hypothesized that DNA methylome of livers from patients with T2D, when compared to livers of individuals with normal plasma glucose levels, can unveil some mechanism of hepatic insulin resistance that could link to NAFLD. Using DNA methylome and transcriptome analyses of livers from obese individuals, we found that both hypomethylation at a CpG site in PDGFA (encoding platelet derived growth factor alpha) and PDGFA overexpression are associated with increased T2D risk, hyperinsulinemia, increased insulin resistance and increased steatohepatitis risk...
May 4, 2018: Diabetes
https://www.readbyqxmd.com/read/29707040/incidence-and-mitigation-of-gastrointestinal-events-in-patients-with-relapsing-remitting-multiple-sclerosis-receiving-delayed-release-dimethyl-fumarate-a-german-phase-iv-study-tolerate
#9
Ralf Gold, Eugen Schlegel, Birte Elias-Hamp, Christian Albert, Stephan Schmidt, Björn Tackenberg, James Xiao, Tom Schaak, Hans Christian Salmen
Background: Gastrointestinal (GI) events are common adverse events (AEs) associated with delayed-release dimethyl fumarate (DMF), an approved treatment for relapsing-remitting multiple sclerosis (RRMS). The objective of the TOLERATE study was to evaluate GI tolerability and GI mitigation via symptomatic therapies in patients initiating DMF in a real-world clinical setting in Germany. Methods: TOLERATE was a multicentre, open-label, single-arm study performed at 25 German sites...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/29678933/severe-bleeding-is-a-rare-event-in-patients-receiving-lumen-apposing-metal-stents-for-the-drainage-of-pancreatic-fluid-collections
#10
Sebastian Zeissig, Stefan Sulk, Stefan Brueckner, Katja Matthes, Margarete Hohmann, Stephanie Reichel, Mark Ellrichmann, Alexander Arlt, Uwe Will, Jochen Hampe
No abstract text is available yet for this article.
April 20, 2018: Gut
https://www.readbyqxmd.com/read/29627213/macro-and-microtopographical-examination-and-quantification-of-cad-cam-composite-resin-2-and-3-body-wear
#11
Carolin Stöckl, Rüdiger Hampe, Bogna Stawarczyk, Miriam Haerst, Malgorzata Roos
STATEMENT OF PROBLEM: The selection of an appropriate restorative material based on wear behavior is important for the long-term success of a dental restoration. For computer-aided design and computer-aided manufacturing (CAD-CAM) composite resins, information about their wear resistance and wear mechanism is scarce. PURPOSE: The purpose of this in vitro study was to compare the 2- and 3-body wear of CAD-CAM composite resins with that of lithium disilicate ceramic and to develop analysis software...
April 5, 2018: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/29620054/haemochromatosis
#12
REVIEW
Pierre Brissot, Antonello Pietrangelo, Paul C Adams, Barbara de Graaff, Christine E McLaren, Olivier Loréal
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer...
April 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29600053/long-term-quality-of-life-after-endovac-therapy-in-anastomotic-leakages-after-esophagectomy
#13
Nils Heits, Alexander Bernsmeier, Benedikt Reichert, Charlotte Hauser, Alexander Hendricks, Dana Seifert, Florian Richter, Clemens Schafmayer, Mark Ellrichmann, Bodo Schniewind, Jochen Hampe, Thomas Becker, Jan-Hendrik Egberts
Background: Endoluminal vacuum therapy (EVT) has been successfully established with promising survival rates in the treatment of anastomotic leakages after esophagectomy. It is still unclear how this therapy affects health related quality of life (HRQOL). Methods: HRQOL was prospectively assessed using the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-C30 (EORTC QLQ-C30) questionnaire. Assessment was carried out prior to surgery, after discharge, 6 months and 12 months after surgery...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29581254/a-zipped-helix-cap-potentiates-hamp-domain-control-of-chemoreceptor-signaling
#14
Caralyn E Flack, John S Parkinson
Environmental awareness is an essential attribute for all organisms. The chemotaxis system of Escherichia coli provides a powerful experimental model for the investigation of stimulus detection and signaling mechanisms at the molecular level. These bacteria sense chemical gradients with transmembrane proteins [methyl-accepting chemotaxis proteins (MCPs)] that have an extracellular ligand-binding domain and intracellular histidine kinases, adenylate cyclases, methyl-accepting proteins, and phosphatases (HAMP) and signaling domains that govern locomotor behavior...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29535416/genetic-variants-in-pnpla3-and-tm6sf2-predispose-to-the-development-of-hepatocellular-carcinoma-in-individuals-with-alcohol-related-cirrhosis
#15
Felix Stickel, Stephan Buch, Hans Dieter Nischalke, Karl Heinz Weiss, Daniel Gotthardt, Janett Fischer, Jonas Rosendahl, Pierre Deltenre, Astrid Marot, Mona Elamly, Markus Casper, Frank Lammert, Andrew McQuillin, Steffen Zopf, Ulrich Spengler, Silke Marhenke, Martha M Kirstein, Arndt Vogel, Florian Eyer, Johann von Felden, Henning Wege, Thorsten Buch, Clemens Schafmayer, Felix Braun, Thomas Berg, Marsha Y Morgan, Jochen Hampe
OBJECTIVES: Variants in patatin-like phospholipase domain-containing 3 (PNPLA3; rs738409), transmembrane 6 superfamily member 2 (TM6SF2; rs58542926), and membrane bound O-acyltransferase domain containing 7 (MBOAT7; rs641738) are risk factors for the development of alcohol-related cirrhosis. Within this population, PNPLA3 rs738409 is also an established risk factor for the development of hepatocellular carcinoma (HCC). The aim of this study was to explore possible risk associations of TM6SF2 rs58542926 and MBOAT7 rs641738 with HCC...
March 13, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29518107/gene-gene-interactions-among-coding-genes-of-iron-homeostasis-proteins-and-apoe-alleles-in-cognitive-impairment-diseases
#16
Veronica Tisato, Giovanni Zuliani, Marco Vigliano, Giovanna Longo, Eugenia Franchini, Paola Secchiero, Giorgio Zauli, Elvezia Maria Paraboschi, Ajay Vikram Singh, Maria Luisa Serino, Beatrice Ortolani, Amedeo Zurlo, Cristina Bosi, Antonio Greco, Davide Seripa, Rosanna Asselta, Donato Gemmati
Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086)...
2018: PloS One
https://www.readbyqxmd.com/read/29513388/integration-of-danger-peptide-signals-with-herbivore-associated-molecular-pattern-signaling-amplifies-anti-herbivore-defense-responses-in-rice
#17
Tomonori Shinya, Shigetaka Yasuda, Kiwamu Hyodo, Rena Tani, Yuko Hojo, Yuka Fujiwara, Kei Hiruma, Takuma Ishizaki, Yasunari Fujita, Yusuke Saijo, Ivan Galis
Plant defense against herbivores is modulated by herbivore-associated molecular patterns (HAMPs) from oral secretions (OS) and/or saliva of insects. Furthermore, feeding wounds initiate plant self-damage responses modulated by danger-associated molecular patterns (DAMPs) such as immune defense-promoting plant elicitor peptides (Peps). While temporal and spatial co-existence of both patterns during herbivory implies a possibility of their close interaction, the molecular mechanisms remain undetermined. Here we report that exogenous application of rice (Oryza sativa) peptides (OsPeps) can elicit multiple defense responses in rice cell cultures...
May 2018: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/29501389/hamp-promoter-hypomethylation-and-increased-hepcidin-levels-as-biomarkers-for-kawasaki-disease
#18
Ying-Hsien Huang, Hsing-Chun Kuo, Sung-Chou Li, Xin-Yuan Cai, Shih-Feng Liu, Ho-Chang Kuo
Kawasaki disease (KD) is the most common coronary vasculitis to appear in children with anemia and has been associated with elevated plasma hepcidin levels. We recruited a total of 241 cases, including 18 KD patients, who were tested both prior to receiving intravenous immunoglobulin (IVIG) and at least 3 weeks after IVIG treatment, and 18 febrile controls, who were observed in the Illumina HumanMethylation450 BeadChip study for their CpG markers. The remaining cases consisted of another 92 KD patients and 113 controls that were used for validation by pyrosequencing...
April 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29494369/effects-of-multimethod-intervention-on-bedside-report-compliance-and-patient-satisfaction
#19
Daniela N Faloon, Holly Hampe, Thomas Cline
Miscommunication is a large contributing factor to hospital sentinel events. Communication with nurses is a component of the Hospital Consumer Assessment of Healthcare Providers and Systems (HCAHPS) survey. The HCAHPS survey not only assesses patient satisfaction but also impacts how hospitals are reimbursed. A literature review reveals that nursing bedside shift positively impacts patient satisfaction and nurse communication. There is limited research on how to implement bedside report as well as what to include during report...
April 2018: Critical Care Nursing Quarterly
https://www.readbyqxmd.com/read/29490093/arginine-metabolism-is-altered-in-adults-with-a-%C3%AE-ketosis-prone-diabetes
#20
Surya N Mulukutla, Jean W Hsu, Ruchi Gaba, Kurt M Bohren, Anu Guthikonda, Dinakar Iyer, Nadim J Ajami, Joseph F Petrosino, Christiane S Hampe, Nalini Ram, Farook Jahoor, Ashok Balasubramanyam
Background: A-β + ketosis-prone diabetes (KPD) is a subset of type 2 diabetes in which patients have severe but reversible β cell dysfunction of unknown etiology. Plasma metabolomic analysis indicates that abnormal arginine metabolism may be involved. Objective: The objective of this study was to determine the relation between gut microbiome and arginine metabolism and the relation between arginine availability and β cell function in KPD patients compared with control participants...
February 1, 2018: Journal of Nutrition
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