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https://www.readbyqxmd.com/read/28811685/mutation-analyses-in-selected-exons-of-the-mut-gene-in-indian-patients-with-methylmalonic-acidemia
#1
Chandrawati Kumari, Seema Kapoor, Bijo Varughese, Sunil Kumar Pollipali, Siddarth Ramji
Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mutations in 21 Indian mut MMA patients by direct sequencing. Sequence analysis identified a total of 70 mutations in exon 2, 9, 11 and 12 of MUT gene. Out of which 26 mutations were predicted to be deleterious and rest were benign. The 23 novel mutations consist of four nonsense mutations (p.N6*, p.G539*, p...
July 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28780108/the-effect-of-bleaching-agents-on-the-degradation-of-vitamins-and-carotenoids-in-spray-dried-whey-protein-concentrate
#2
M A Stout, C W Park, M A Drake
Previous research has shown that bleaching affects flavor and functionality of whey proteins. The role of different bleaching agents on vitamin and carotenoid degradation is unknown. The objective of this study was to determine the effects of bleaching whey with traditional annatto (norbixin) by hydrogen peroxide (HP), benzoyl peroxide (BP), or native lactoperoxidase (LP) on vitamin and carotenoid degradation in spray-dried whey protein concentrate 80% protein (WPC80). An alternative colorant was also evaluated...
August 2, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28777971/vegetarian-diets-and-depressive-symptoms-among-men
#3
Joseph R Hibbeln, Kate Northstone, Jonathan Evans, Jean Golding
BACKGROUND: Vegetarian diets are associate with cardiovascular and other health benefits, but little is known about mental health benefits or risks. AIMS: To determine whether self-identification of vegetarian dietary habits is associated with significant depressive symptoms in men. METHOD: Self-report data from 9668 adult male partners of pregnant women in the Avon Longitudinal Study of Parents and Children (ALSPAC) included identification as vegetarian or vegan, dietary frequency data and the Edinburgh Post Natal Depression Scale (EPDS)...
July 28, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28754701/genome-sequence-and-composition-of-a-tolyporphin-producing-cyanobacterium-microbial-community
#4
Rebecca-Ayme Hughes, Yunlong Zhang, Ran Zhang, Philip G Williams, Jonathan S Lindsey, Eric S Miller
The cyanobacterial culture HT-58-2 was originally described as a strain of Tolypothrix nodosa with the ability to produce tolyporphins, which comprise a family of distinct tetrapyrrole macrocycles with reported efflux pump inhibition properties. Upon reviving the culture from what was thought to be a non-extant collection, studies of culture conditions, strain characterization, phylogeny, and genomics have been undertaken. Herein, HT-58-2 was shown by 16S rRNA analysis to closely align with Brasilonema strains and not with Tolypothrix isolates...
July 28, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/28747433/efficient-methylation-of-c2-in-l-tryptophan-by-the-cobalamin-dependent-radical-s-adenosylmethionine-methylase-tsrm-requires-an-unmodified-n1-amine
#5
Anthony J Blaszczyk, Bo Wang, Alexey Silakov, Jackson V Ho, Squire J Booker
TsrM catalyzes the methylation of C2 in Ltryptophan (Trp). This reaction is the first step in the biosynthesis of the quinaldic acid moiety of the thiopeptide antibiotic thiostrepton, which exhibits potent activity against Gram-positive pathogens. TsrM is a member of the radical S-adenosylmethionine (SAM) superfamily of enzymes, but does not catalyze formation of 5'-deoxyadenosin-5'-yl or any other SAM-derived radical. In addition to a [4Fe-4S] cluster, TsrM contains a cobalamin cofactor that serves as an intermediate methyl carrier in its reaction...
July 26, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28726436/is-it-intestinal-tuberculosis-again-case-report
#6
Kristián Brat, Zdeněk Merta, Ivan Čundrle
This case report focuses on an immigrant admitted to the Department of Respiratory Diseases, University Hospital Brno due to suspicion of relapsing intestinal tuberculosis. The patient presented with fever, night sweat, weight loss, diarrhea, and a history of several tuberculosis attacks in the last few years. None of the examinations confirmed the presence of active tuberculosis but raised suspicion of hematological malignancy. Pancytopenia was present in the peripheral blood. However, bone marrow examination and flowcytometry excluded the presence of a hematological malignancy...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28718091/nutritional-and-micronutrient-care-of-bariatric-surgery-patients-current-evidence-update
#7
REVIEW
Michael A Via, Jeffrey I Mechanick
PURPOSE OF REVIEW: The continued success of bariatric surgery to treat obesity and obesity-associated metabolic conditions creates a need for a strong understanding of clinical nutrition both before and after these procedures. RECENT FINDINGS: Surgically induced alteration of gastrointestinal physiology can affect the nutrition of individuals, especially among those who have undergone malabsorptive procedures. While uncommon, a subset of patients may develop protein-calorie malnutrition...
July 17, 2017: Current Obesity Reports
https://www.readbyqxmd.com/read/28711408/biochemical-characteristics-of-newborns-with-carnitine-transporter-defect-identified-by-newborn-screening-in-california
#8
N M Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, G M Enns, S Packman, H J Lin, W R Wilcox, S D Cederbaum, J E Abdenur
Carnitine transporter defect (CTD; also known as systemic primary carnitine deficiency; MIM 212140) is due to mutations in the SLC22A5 gene and leads to extremely low carnitine levels in blood and tissues. Affected individuals may develop early onset cardiomyopathy, weakness, or encephalopathy, which may be serious or even fatal. The disorder can be suggested by newborn screening. However, markedly low newborn carnitine levels can also be caused by conditions unrelated to CTD, such as the low carnitine levels often associated with normal pregnancies and some metabolic disorders occurring in the mother...
July 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28703447/chronic-diarrhea-in-dogs-retrospective-study-in-136-cases
#9
M Volkmann, J M Steiner, G T Fosgate, J Zentek, S Hartmann, B Kohn
BACKGROUND: Chronic diarrhea (CD) is common in dogs, and information on frequency and distribution of primary and secondary causes is lacking. OBJECTIVES: To evaluate underlying causes and predictors of outcome in dogs with CD. ANIMALS: One hundred and thirty-six client-owned dogs with CD (≥3 weeks duration). METHODS: Retrospective review of medical records (Small Animal Clinic, Freie Universität Berlin, Germany, 09/2009-07/2011)...
July 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28699005/study-of-chlordecone-desorption-from-activated-carbons-and-subsequent-dechlorination-by-reduced-cobalamin
#10
Ronald Ranguin, Axelle Durimel, Reeka Karioua, Sarra Gaspard
Since 1972, the French departments of Guadeloupe and Martinique have intensively used organochlorinated pesticides such as chlordecone (CLD) and hexachlorocyclohexane (HCH) isomers to prevent the proliferation of banana weevil (Cosmopolite sordidus). These molecules are stable in the environment, leading to a continuous contamination of soils, water, and food chain in the banana-producing areas. In these polluted areas, water treatment plants are equipped with activated carbon (AC) filters. In order to improve treatment of CLD-contaminated waters by AC, CLD adsorption and desorption kinetic studies are carried out using different ACs produced from sugar cane bagasse as adsorbents and subsequent CLD degradation is performed using reduced vitamin B12 (VB12)...
July 11, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28693988/milder-clinical-and-biochemical-phenotypes-associated-with-the-c-482g-a-p-arg161gln-pathogenic-variant-in-cobalamin-c-disease-implications-for-management-and-screening
#11
Mohammed Almannai, Ronit Marom, Kristian Divin, Fernando Scaglia, V Reid Sutton, William J Craigen, Brendan Lee, Lindsay C Burrage, Brett H Graham
INTRODUCTION: Cobalamin C disease is a multisystemic disease with variable manifestations and age of onset. Genotype-phenotype correlations are well-recognized in this disorder. Here, we present a large cohort of individuals with cobalamin C disease, several of whom are heterozygous for the c.482G>A pathogenic variant (p.Arg161Gln). We compared clinical characteristics of individuals with this pathogenic variant to those who do not have this variant. To our knowledge, this study represents the largest single cohort of individuals with the c...
June 29, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28676841/an-in-vitro-model-of-gastric-inflammation-and-treatment-with-cobalamin
#12
T R Elliott, A L Guildford
Pernicious anaemia (PA) is an autoimmune condition where antibodies target intrinsic factor and parietal cells, reducing the patient's ability to absorb cobalamin promoting atrophic gastritis. Treatment guidelines are based on excretion data of hydroxocobalamin from healthy individuals obtained 50 years ago. This manuscript describes the use of phorbol 12-myristate 13-acetate (PMA) to stimulate low grade inflammation in an epithelial colorectal cell line to assess the efficacy of methylcobalamin and hydroxocobalamin...
2017: International Journal of Inflammation
https://www.readbyqxmd.com/read/28670999/biological-variation-of-holotranscobalamin-and-cobalamin-in-healthy-individuals
#13
Mette Brokner, Helle Borgstrøm Hager, Morten Lindberg
Data on biological variation for cobalamin and holotranscobalamin (holoTC) are limited. The aim of this study was to determine within-subject (CVI) and between-subject (CVG) biological variations for these analytes in a healthy population. We collected blood samples from 15 healthy volunteers (12 women and three men, 22-66 years) on the same weekday for 10 consecutive weeks. Serum samples were stored at -80 °C until analysis in duplicate in a single analytical run. The CVI and CVG were estimated by nested ANOVA...
July 2, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28667844/elevated-plasma-vitamin-b12-levels-and-risk-of-venous-thromboembolism-among-cancer-patients-a-population-based-cohort-study
#14
Johan Frederik Håkonsen Arendt, Dóra Körmendiné Farkas, Lars Pedersen, Henrik Toft Sørensen
INTRODUCTION: Both venous thromboembolism (VTE) and high plasma vitamin B12 levels (cobalamin, Cbl) are markers of occult cancer and aggressive cancer with a poor prognosis. In this population-based cohort study, we assessed VTE risk among cancer patients with high plasma Cbl levels. MATERIALS AND METHODS: We used Danish health registries to identify a Cb1 cohort of 25,310 cancer patients with a plasma Cbl measurement prior to cancer diagnosis. The cohort was subdivided according to Cbl levels (pmol/L): 200-600 (population reference range), 601-800 and >800...
August 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28662112/strand-specific-rna-sequencing-and-membrane-lipid-profiling-reveals-growth-phase-dependent-cold-stress-response-mechanisms-in-listeria-monocytogenes
#15
Patricia Hingston, Jessica Chen, Kevin Allen, Lisbeth Truelstrup Hansen, Siyun Wang
The human pathogen Listeria monocytogenes continues to pose a challenge in the food industry, where it is known to contaminate ready-to-eat foods and grow during refrigerated storage. Increased knowledge of the cold-stress response of this pathogen will enhance the ability to control it in the food-supply-chain. This study utilized strand-specific RNA sequencing and whole cell fatty acid (FA) profiling to characterize the bacterium's cold stress response. RNA and FAs were extracted from a cold-tolerant strain at five time points between early lag phase and late stationary-phase, both at 4°C and 20°C...
2017: PloS One
https://www.readbyqxmd.com/read/28660890/vitamin-b12-deficiency
#16
REVIEW
Ralph Green, Lindsay H Allen, Anne-Lise Bjørke-Monsen, Alex Brito, Jean-Louis Guéant, Joshua W Miller, Anne M Molloy, Ebba Nexo, Sally Stabler, Ban-Hock Toh, Per Magne Ueland, Chittaranjan Yajnik
Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, subclinical deficiency affects between 2.5% and 26% of the general population depending on the definition used, although the clinical relevance is unclear. B12 deficiency can affect individuals at all ages, but most particularly elderly individuals...
June 29, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28656345/cobalt-inhibits-motility-of-axonal-mitochondria-and-induces-axonal-degeneration-in-cultured-dorsal-root-ganglion-cells-of-rat
#17
Shin Kikuchi, Takafumi Ninomiya, Takayuki Kohno, Takashi Kojima, Haruyuki Tatsumi
Cobalt is a trace element that localizes in the human body as cobalamin, also known as vitamin B12. Excessive cobalt exposure induces a peripheral neuropathy, the mechanisms of which are yet to be elucidated. We investigated how cobalt may affect mitochondrial motility in primary cultures of rat dorsal root ganglion (DRG). We observed mitochondrial motility by time-lapse imaging after DsRed2 tagging via lentivirus, mitochondrial structure using transmission electron microscopy (TEM), and axonal swelling using immunocytochemical staining...
June 27, 2017: Cell Biology and Toxicology
https://www.readbyqxmd.com/read/28654327/a-new-facet-of-vitamin-b12-gene-regulation-by-cobalamin-based-photoreceptors
#18
REVIEW
S Padmanabhan, Marco Jost, Catherine L Drennan, Montserrat Elías-Arnanz
Living organisms sense and respond to light, a crucial environmental factor, using photoreceptors, which rely on bound chromophores such as retinal, flavins, or linear tetrapyrroles for light sensing. The discovery of photoreceptors that sense light using 5'-deoxyadenosylcobalamin, a form of vitamin B12 that is best known as an enzyme cofactor, has expanded the number of known photoreceptor families and unveiled a new biological role of this vitamin. The prototype of these B12-dependent photoreceptors, the transcriptional repressor CarH, is widespread in bacteria and mediates light-dependent gene regulation in a photoprotective cellular response...
June 20, 2017: Annual Review of Biochemistry
https://www.readbyqxmd.com/read/28638446/overexpression-of-transcobalamin-1-is-an-independent-negative-prognosticator-in-rectal-cancers-receiving-concurrent-chemoradiotherapy
#19
Yi-Ying Lee, Yu-Ching Wei, Yu-Feng Tian, Ding-Ping Sun, Ming-Jen Sheu, Ching-Chieh Yang, Li-Ching Lin, Chen-Yi Lin, Chung-Hsi Hsing, Wan-Shan Li, Chien-Feng Li, Pei-Ling Hsieh, Ching-Yih Lin
Objective: Neoadjuvant concurrent chemoradiotherapy (CCRT) is an increasingly common therapeutic strategy for locally advanced rectal cancer, but stratification of risk and final outcomes remain a major challenge. Transcobalamin 1 (TCN1), a vitamin B12 (cobalamin)-binding protein, regulates cobalamin homeostasis. High expression of TCN1 have been reported in neoplasms such as breast cancer and hepatocellular carcinoma. However, little is known about the relevance of TCN1 to rectal cancer receiving CCRT. This study examined the predictive and prognostic impact of TCN1 expression in patients with rectal cancer following neoadjuvant CCRT...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28626960/whole-blood-taurine-concentrations-in-cats-with-intestinal-disease
#20
A Kathrani, A J Fascetti, J A Larsen, C Maunder, E J Hall
BACKGROUND: Increased delivery of taurine-conjugated bile acids to the distal bowel can lead to dysbiosis resulting in colitis in mouse models of inflammatory bowel disease. A similar situation also could occur in cats with intestinal disease and might therefore result in decreased whole-body taurine concentration. HYPOTHESIS/OBJECTIVES: To determine whether whole-blood taurine concentrations are decreased at the time of diagnosis in cats with intestinal disease and to correlate concentrations with clinical and laboratory variables...
July 2017: Journal of Veterinary Internal Medicine
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