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https://www.readbyqxmd.com/read/28811946/are-all-mutations-the-same-a-rare-case-report-of-coexisting-mutually-exclusive-kras-and-braf-mutations-in-a-patient-with-metastatic-colon-adenocarcinoma
#1
Anusha Vittal, Akshay Middinti, Anup Kasi Loknath Kumar
29-year-old Hispanic woman presented to the clinic with complaints of abdominal pain, nausea, fatigue, and constipation. Laboratory tests indicated the presence of iron deficiency anemia and transaminitis. Imaging evaluation revealed marked hepatomegaly with multiple hepatic metastases and pelvic lymphadenopathy. Biopsy of the hepatic lesions showed adenocarcinoma positive for pan-cytokeratin, CMA5.2, villin, and CDX2. She was positive for tumor markers CA 19-9, CA-125, and CEA. Upon further evaluation, she was found to have colorectal cancer positive for KRAS and BRAF mutations...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28811809/peppered-and-rare-gastric-and-duodenal-pseudomelanosis-a-case-series
#2
Sami Samiullah, Hadi Bhurgri, Arooj Babar, Fatima Samad, Moaz M Choudhary, Michael Demyen
Upper Gastrointestinal (GI) pseudomelanosis is an uncommon entity characterized by endoscopic visualization of speckled dark mucosal pigmentation. While described in the rectum and colon, 'melanosis' or more aptly 'pseudomelanosis' is rare in the duodenum and exceedingly rare in the stomach. Five cases of pseudomelanosis were encountered at our department. Four females and one male were diagnosed, with a mean age of 70 years. All patients exhibited duodenal pseudomelanosis, with one demonstrating gastric antral pseudomelanosis as well...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811791/differentiation-of-beta-thalassemia-trait-from-iron-deficiency-anemia-by-hematological-indices
#3
Tahir Jameel, Mukhtiar Baig, Ijaz Ahmed, Muhammad Barakat Hussain, Motlag Bin Doghaim Alkhamaly
OBJECTIVE: We aimed at finding out reliable parameter in the differentiation of iron deficiency anemia (IDA) and beta-thalassemia trait (β-TT) in the adult population subjected to Saudi Arabian Premarital Screening Program. METHODS: A total of 620 adults (age range 21-36 years) reported during February 2012 to November 2012. Tests for serum iron and ferritin were carried out in individuals showing low hemoglobin (Hb). All the selected subjects' samples were subjected to blood morphology, comparison of MCV, RBC count...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28811697/role-of-iron-and-copper-in-the-pathogenesis-of-parkinson-s-disease
#4
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/28811181/beneficial-effects-of-postnatal-choline-supplementation-on-long-term-neurocognitive-deficit-resulting-from-fetal-neonatal-iron-deficiency
#5
Bruce C Kennedy, Phu V Tran, Maulika Kohli, Jamie J Maertens, Jonathan C Gewirtz, Michael K Georgieff
Early-life iron deficiency is a common nutrient condition worldwide and can result in cognitive impairment in adulthood despite iron treatment. In rodents, prenatal choline supplementation can diminish long-term hippocampal gene dysregulation and neurocognitive deficits caused by iron deficiency. Since fetal iron status is generally unknown in humans, we determined whether postnatal choline supplementation exerts similar beneficial effects. Male rat pups were made iron deficient (ID) by providing pregnant and nursing dams an ID diet (3-6ppm Fe) from gestational day (G) 3 through postnatal day (P) 7, and an iron-sufficient (IS) diet (200ppm Fe) thereafter...
August 12, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28809788/correction-gupta-p-m-et-al-iron-anemia-and-iron-deficiency-anemia-among-young-children-in-the-united-states-nutrients-2016-8-330
#6
Priya M Gupta, Cria G Perrine, Zuguo Mei, Kelley S Scanlon
We would like to submit the following correction to our recently published paper [1] due to the error in classification of children as anemic [...].
August 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28805962/medicago-truncatula-molybdate-transporter-type-1-mtmot1-3-is-a-plasma-membrane-molybdenum-transporter-required-for-nitrogenase-activity-in-root-nodules-under-molybdenum-deficiency
#7
Manuel Tejada-Jiménez, Patricia Gil-Díez, Javier León-Mediavilla, Jiangqi Wen, Kirankumar S Mysore, Juan Imperial, Manuel González-Guerrero
Molybdenum, as a component of the iron-molybdenum cofactor of nitrogenase, is essential for symbiotic nitrogen fixation. This nutrient has to be provided by the host plant through molybdate transporters. Members of the molybdate transporter family Molybdate Transporter type 1 (MOT1) were identified in the model legume Medicago truncatula and their expression in nodules was determined. Yeast toxicity assays, confocal microscopy, and phenotypical characterization of a Transposable Element from Nicotiana tabacum (Tnt1) insertional mutant line were carried out in the one M...
August 14, 2017: New Phytologist
https://www.readbyqxmd.com/read/28804536/combined-respiratory-chain-deficiency-and-uqcc2-mutations-in-neonatal-encephalomyopathy-defective-supercomplex-assembly-in-complex-iii-deficiencies
#8
René G Feichtinger, Michaela Brunner-Krainz, Bader Alhaddad, Saskia B Wortmann, Reka Kovacs-Nagy, Tatjana Stojakovic, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Locker, Christine Makowski, Tim M Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B Haack, Johannes A Mayr
Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated by intrauterine growth retardation and oligohydramnios...
2017: Oxidative Medicine and Cellular Longevity
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
#9
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
#10
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/28803604/bone-marrow-urokinase-plasminogen-activator-receptor-levels-are-associated-with-the-progress-of-multiple-myeloma
#11
Li-Hong Shou, Dan Cao, Xiao-Hui Dong, Qiu Fang, Bao-Lian Xu, Ju-Ping Fei
Objective To determine the mRNA and protein levels of urokinase plasminogen activator receptors (uPAR) in bone marrow fluid and bone marrow tissue from multiple myeloma (MM) patients and assess association of uPAR level with prognosis of MM. Methods uPAR levels in bone marrow fluid of 22 MM patients at the stable and progressive stages and 18 iron deficiency anemia patients with normal bone marrow (control) were examined by ELISA. Furthermore, uPAR expression in bone marrow tissue was investigated by RT-PCR and Western blot, respectively...
September 20, 2016: Chinese Medical Sciences Journal, Chung-kuo i Hsüeh K'o Hsüeh Tsa Chih
https://www.readbyqxmd.com/read/28800764/lrp-a-global-regulator-regulates-the-virulence-of-vibrio-vulnificus
#12
Yu-Chi Ho, Feng-Ru Hung, Chao-Hui Weng, Wei-Ting Li, Tzu-Hung Chuang, Tsung-Lin Liu, Ching-Yuan Lin, Chien-Jung Lo, Chun-Liang Chen, Jen-Wei Chen, Masayuki Hashimoto, Lien-I Hor
BACKGROUND: An attenuated mutant (designated NY303) of Vibrio vulnificus, which causes serious wound infection and septicemia in humans, was isolated fortuitously from a clinical strain YJ016. This mutant was defective in cytotoxicity, migration on soft agar and virulence in the mouse. The purpose of this study was to map the mutation in this attenuated mutant and further explore how the gene thus identified is involved in virulence. METHODS: The whole genome sequence of mutant NY303 determined by next-generation sequencing was compared with that of strain YJ016 to map the mutations...
August 11, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28800117/iron-fortification-of-lentil-lens-culinaris-medik-to-address-iron-deficiency
#13
Rajib Podder, Bunyamin Tar'an, Robert T Tyler, Carol J Henry, Diane M DellaValle, Albert Vandenberg
Iron (Fe) deficiency is a major human health concern in areas of the world in which diets are often Fe deficient. In the current study, we aimed to identify appropriate methods and optimal dosage for Fe fortification of lentil (Lens culinaris Medik.) dal with FeSO₄·7H₂O (ferrous sulphate hepta-hydrate), NaFeEDTA (ethylenediaminetetraacetic acid iron (III) sodium salt) and FeSO₄·H₂O (ferrous sulphate mono-hydrate). We used a colorimetric method to determine the appearance of the dal fortified with fortificants at different Fe concentrations and under different storage conditions...
August 11, 2017: Nutrients
https://www.readbyqxmd.com/read/28797164/universal-surface-engineering-of-transition-metals-for-superior-electrocatalytic-hydrogen-evolution-in-neutral-water
#14
Bo You, Xuan Liu, Guoxiang Hu, Sheraz Gul, Junko Yano, De-En Jiang, Yujie Sun
The development of low-cost hybrid water splitting-biosynthetic systems that mimic natural photosynthesis to achieve solar-to-chemical conversion is of great promise for future energy demands, but often limited by the kinetically sluggish H2 evolu-tion reaction (HER) on the surface of nonprecious transition metal catalysts in neutral media. It is thus highly desirable to rationally tailor the reaction interface to boost the neutral HER catalytic kinetics. Herein, we report a general surface nitro-gen modification of diverse transition metals (e...
August 10, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28797054/large-scale-wheat-flour-folic-acid-fortification-program-increases-plasma-folate-levels-among-women-of-reproductive-age-in-urban-tanzania
#15
Ramadhani A Noor, Ajibola I Abioye, Nzovu Ulenga, Salum Msham, George Kaishozi, Nilupa S Gunaratna, Ramadhani Mwiru, Erin Smith, Christina Nyhus Dhillon, Donna Spiegelman, Wafaie Fawzi
There is widespread vitamin and mineral deficiency problem in Tanzania with known deficiencies of at least vitamin A, iron, folate and zinc, resulting in lasting negative consequences especially on maternal health, cognitive development and thus the nation's economic potential. Folate deficiency is associated with significant adverse health effects among women of reproductive age, including a higher risk of neural tube defects. Several countries, including Tanzania, have implemented mandatory fortification of wheat and maize flour but evidence on the effectiveness of these programs in developing countries remains limited...
2017: PloS One
https://www.readbyqxmd.com/read/28796793/characterizing-the-gut-gallus-gallus-microbiota-following-the-consumption-of-an-iron-biofortified-rwandan-cream-seeded-carioca-phaseolus-vulgaris-l-bean-based-diet
#16
Spenser Reed, Hadar Neuman, Raymond P Glahn, Omry Koren, Elad Tako
Biofortification is a plant breeding method that introduces increased concentrations of minerals in staple food crops (e.g., legumes, cereal grains), and has shown success in alleviating insufficient Fe intake in various human populations. Unlike other strategies utilized to alleviate Fe deficiency, studies of the gut microbiota in the context of Fe biofortification have not yet been reported, although the consumption of Fe biofortified staple food crops has increased significantly over time. Hence, in this study, we performed a 6-week feeding trial in Gallus gallus (n = 14), aimed to investigate the alterations in the gut microbiome following administration of an Fe biofortified bean-based diet (biofortified, BFe) versus a bean based diet with poorly-bioavailable Fe (standard, SFe)...
2017: PloS One
https://www.readbyqxmd.com/read/28792913/iron-in-neurodegenerative-disorders-being-in-the-wrong-place-at-the-wrong-time
#17
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/28792457/impact-of-frequency-of-multi-vitamin-multi-mineral-supplement-intake-on-nutritional-adequacy-and-nutrient-deficiencies-in-u-s-adults
#18
Jeffrey B Blumberg, Balz B Frei, Victor L Fulgoni, Connie M Weaver, Steven H Zeisel
Although >50% of U.S. adults use dietary supplements, little information is available on the impact of supplement use frequency on nutrient intakes and deficiencies. Based on nationally representative data in 10,698 adults from the National Health and Nutrition Examination Surveys (NHANES) 2009 to 2012, assessments were made of intakes from food alone versus food plus multi-vitamin/multi-mineral supplements (MVMS) of 17 nutrients with an Estimated Average Requirement (EAR) and a Tolerable Upper Intake Level (UL), and of the status of five nutrients with recognized biomarkers of deficiency...
August 9, 2017: Nutrients
https://www.readbyqxmd.com/read/28792133/a-combination-of-fecal-immunochemical-test-results-and-iron-deficiency-anemia-for-detection-of-advanced-colorectal-neoplasia-in-asymptomatic-men
#19
Nam Hee Kim, Mi Yeon Lee, Jung Ho Park, Dong Il Park, Chong Il Sohn, Kyuyong Choi, Yoon Suk Jung
PURPOSE: A substantial proportion of patients with colorectal cancer (CRC) present with iron deficiency anemia (IDA), and fecal immunochemical test (FIT) has proven to be an effective method for detecting the majority of CRC cases. A combination strategy of FIT results and IDA may be useful for risk stratification for detecting advanced colorectal neoplasia (ACRN). We compared the prevalence of ACRN among four groups stratified by FIT results and the presence of IDA. MATERIALS AND METHODS: A cross-sectional study was performed on asymptomatic male participants who underwent both FIT and colonoscopy between 2010 and 2014 as part of a comprehensive health screening program in Korea...
September 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28782610/anti-connective-tissue-growth-factor-detects-and-reduces-plaque-inflammation-in-early-stage-carotid-atherosclerotic-lesions
#20
Yuyu Yao, Bing Li, Fu Cong, Gaojun Teng, Genshan Ma, Naifeng Liu
This study explored connective tissue growth factor (CTGF)-targeted ultrasmall superparamagnetic iron oxides (USPIOs) for noninvasive MRI of CTGF within carotid atherosclerotic lesions in apoE-deficient (apoE(-/-)) mice. Anti-CTGF polyclonal and nonspecific IgG antibodies were conjugated to polyethylene glycol-coated USPIOs, and apoE(-/-) carotid partial ligation-model mice were imaged via MRI before and after contrast administration. ApoE(-/-) mice were treated with CTGF-neutralizing antibodies for 3weeks...
August 3, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
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