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https://www.readbyqxmd.com/read/28443623/novel-slc25a32-mutation-in-a-patient-with-a-severe-neuromuscular-phenotype
#1
Debby M E I Hellebrekers, Suzanne C E H Sallevelt, Tom E J Theunissen, Alexandra T M Hendrickx, Ralph W Gottschalk, Janneke G J Hoeijmakers, Daphna D Habets, Jörgen Bierau, Kees G Schoonderwoerd, Hubert J M Smeets
In a 51-year-old patient of consanguineous parents with a severe neuromuscular phenotype of early-onset ataxia, myoclonia, dysarthria, muscle weakness and exercise intolerance, exome sequencing revealed a novel homozygous variant (c.-264_31delinsCTCACAAATGCTCA) in the mitochondrial FAD-transporter gene SLC25A32. Flavin adenine dinucleotide (FAD) is an essential co-factor for many mitochondrial enzymes and impaired mitochondrial FAD-transport was supported by a reduced oxidative phosphorylation complex II activity in the patient's muscle, decreased ATP production in fibroblasts, and a deficiency of mitochondrial FAD-dependent enzymes...
April 26, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28440377/microviscosity-encapsulation-and-permeability-of-2-ketooctanoic-acid-vesicle-membranes
#2
Huifang Xu, Na Du, Yawen Song, Shue Song, Wanguo Hou
In the current work, the microviscosity, encapsulation, and permeability of 2-ketooctanoic acid (KOCOOH) vesicle membranes were investigated by steady-state and time-resolved fluorescence techniques, using 1,6-diphenyl-1,3,5-hexatriene (DPH), riboflavin, and calcein as fluorescence probes. Our results show that the microviscosity of KOCOOH membranes is similar to that of common bilayer aggregates, the KOCOOH vesicles have the ability to encapsulate hydrophilic guests, and the KOCOOH membranes are permeable to ions...
April 25, 2017: Soft Matter
https://www.readbyqxmd.com/read/28434876/dual-targeting-small-molecule-inhibitors-of-the-staphylococcus-aureus-fmn-riboswitch-disrupt-riboflavin-homeostasis-in-an-infectious-setting
#3
Hao Wang, Paul A Mann, Li Xiao, Charles Gill, Andrew M Galgoci, John A Howe, Artjohn Villafania, Christopher M Barbieri, Juliana C Malinverni, Xinwei Sher, Todd Mayhood, Megan D McCurry, Nicholas Murgolo, Amy Flattery, Matthias Mack, Terry Roemer
Riboswitches are bacterial-specific, broadly conserved, non-coding RNA structural elements that control gene expression of numerous metabolic pathways and transport functions essential for cell growth. As such, riboswitch inhibitors represent a new class of potential antibacterial agents. Recently, we identified ribocil-C, a highly selective inhibitor of the flavin mononucleotide (FMN) riboswitch that controls expression of de novo riboflavin (RF, vitamin B2) biosynthesis in Escherichia coli. Here, we provide a mechanistic characterization of the antibacterial effects of ribocil-C as well as of roseoflavin (RoF), an antimetabolite analog of RF, among medically significant Gram-positive bacteria, including methicillin-resistant Staphylococcus aureus (MRSA) and Enterococcus faecalis...
April 18, 2017: Cell Chemical Biology
https://www.readbyqxmd.com/read/28433476/patient-with-multiple-acyl-coa-dehydrogenation-deficiency-disease-and-flad1-mutations-benefits-from-riboflavin-therapy
#4
M Auranen, A Paetau, P Piirilä, A Pohju, T Salmi, A Lamminen, M Löfberg, S Mosegaard, R K Olsen, T Tyni
Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis, lethargy, vomiting, muscle pain and weakness. Riboflavin therapy has been shown to ameliorate diseases symptoms in some of these patients. Recently, mutations in FAD synthase have been described to cause multiple acyl-CoA dehydrogenation deficiency...
March 9, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28426828/consumption-of-fortified-infant-foods-reduces-dietary-diversity-but-has-a-positive-effect-on-subsequent-growth-in-infants-from-sumedang-district-indonesia
#5
Aly Diana, Simonette R Mallard, Jillian J Haszard, Dwi Monik Purnamasari, Ikrimah Nurulazmi, Pratami D Herliani, Gaga I Nugraha, Rosalind S Gibson, Lisa Houghton
Stunting and underweight among under-five children in Indonesia are common, raising public health concerns. Whether inappropriate complementary feeding (CF) practices compromise optimal growth during late infancy in Indonesia is uncertain. Therefore we characterized and evaluated CF practices in Indonesian infants and investigated their relationship with subsequent growth. We enrolled breastfed infants at 6 months of age (n = 230); and followed them at 9 (n = 202) and 12 months of age (n = 190). We collected socio-demographic and anthropometric data and two-day in-home weighed food records...
2017: PloS One
https://www.readbyqxmd.com/read/28424993/performing-corneal-crosslinking-under-local-anaesthesia-in-patients-with-down-syndrome
#6
Nienke Soeters, Esmée Bennen, Robert P L Wisse
PURPOSE: To report on the ability to perform corneal crosslinking (CXL) under local anaesthesia for the treatment of keratoconus in patients with Down syndrome. METHODS: Nine eyes of seven patients with both keratoconus and Down syndrome were scheduled for an epithelium-off CXL procedure under local anaesthesia. Exclusion criteria were a corneal thickness under 400 µm and the presence of corneal scars. A standardized clinical decision tool was used to estimate patient cooperation and the likelihood for a successful procedure under local rather than general anaesthesia...
April 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28424186/circulating-concentrations-of-biomarkers-and-metabolites-related-to-vitamin-status-one-carbon-and-the-kynurenine-pathways-in-us-nordic-asian-and-australian-populations
#7
Øivind Midttun, Despoina Theofylaktopoulou, Adrian McCann, Anouar Fanidi, David C Muller, Klaus Meyer, Arve Ulvik, Wei Zheng, Xiao-Ou Shu, Yong-Bing Xiang, Ross Prentice, Cynthia A Thomson, Mary Pettinger, Graham G Giles, Allison Hodge, Qiuyin Cai, William J Blot, Jie Wu, Mikael Johansson, Johan Hultdin, Kjell Grankvist, Victoria L Stevens, Marjorie L McCullough, Stephanie J Weinstein, Demetrius Albanes, Arnulf Langhammer, Kristian Hveem, Marit Næss, Howard D Sesso, J Michael Gaziano, Julie E Buring, I-Min Lee, Gianluca Severi, Xuehong Zhang, Jiali Han, Meir J Stampfer, Stephanie A Smith-Warner, Anne Zeleniuch-Jacquotte, Loic le Marchand, Jian-Min Yuan, Lesley M Butler, Woon-Puay Koh, Renwei Wang, Yu-Tang Gao, Ulrika Ericson, Emily Sonestedt, Regina G Ziegler, Neal D Freedman, Kala Visvanathan, Miranda R Jones, Caroline Relton, Paul Brennan, Mattias Johansson, Per M Ueland
Background: Circulating concentrations of biomarkers that are related to vitamin status vary by factors such as diet, fortification, and supplement use. Published biomarker concentrations have also been influenced by the variation across laboratories, which complicates a comparison of results from different studies.Objective: We robustly and comprehensively assessed differences in biomarkers that are related to vitamin status across geographic regions.Design: The trial was a cross-sectional study in which we investigated 38 biomarkers that are related to vitamin status and one-carbon and tryptophan metabolism in serum and plasma from 5314 healthy control subjects representing 20 cohorts recruited from the United States, Nordic countries, Asia, and Australia, participating in the Lung Cancer Cohort Consortium...
April 19, 2017: American Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28420530/rapid-determination-of-the-various-native-forms-of-vitamin-b6-and-b2-in-cow-s-milk-using-ultra-high-performance-liquid-chromatography
#8
A Schmidt, M G Schreiner, H K Mayer
As the formation of pyridoxal phosphate, the active cofactor of vitamin B6, is dependent on riboflavin 5-phosphate, we propose a fast and simple ultra-high performance liquid chromatography method for the simultaneous determination of the native B6 vitamers pyridoxal, pyridoxine, pyridoxamine, their mono phosphorus esters and 4-pyridoxic acid as well as vitamin B2 as riboflavin and its phosphorus ester riboflavin 5-phosphate in milk. Separation was achieved under 6.0min by reversed-phase and pH gradient elution...
April 9, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28420205/do-chinese-children-get-enough-micronutrients
#9
Huijun Wang, Dantong Wang, Yifei Ouyang, Feifei Huang, Gangqiang Ding, Bing Zhang
The aim of this study was to examine usual daily micronutrient intake of Chinese children based on data from the 2011 China Health and Nutrition Survey. We analyzed data from 4 to 17-year-old participants, who provided dietary data on three consecutive days combined with the household weighing method in 2011. Usual daily intake of each nutrient was estimated using a mixed effects model based on the China Food Composition published in 2009. The means, medians and percentages below Estimated Average Requirements (EAR) were reported for selected micronutrients, including calcium, sodium, potassium, iron, zinc, selenium, vitamin A, thiamine, riboflavin and vitamin C...
April 18, 2017: Nutrients
https://www.readbyqxmd.com/read/28419477/the-effectiveness-of-riboflavin-and-ultraviolet-light-pathogen-reduction-technology-in-eliminating-trypanosoma-cruzi-from-leukoreduced-whole-blood
#10
Teresa Jimenez-Marco, Beatriz Cancino-Faure, Enrique Girona-Llobera, M Magdalena Alcover, Cristina Riera, Roser Fisa
BACKGROUND: The parasitic Chagas disease is caused by the protozoan Trypanosoma cruzi, which is mainly transmitted by insect vectors. Other infection routes, both in endemic and in nonendemic areas, include organ and marrow transplantation, congenital transmission, and blood transfusion. Asymptomatic chronic chagasic individuals may have a low and transient parasitemia in peripheral blood and, consequently, they can unknowingly transmit the disease via blood transfusion. Riboflavin and ultraviolet (UV) light pathogen reduction is a method to reduce pathogen transfusion transmission risk based on damage to the pathogen nucleic acids...
April 16, 2017: Transfusion
https://www.readbyqxmd.com/read/28417457/effects-of-riboflavin-and-ultraviolet-light-treatment-on-platelet-thrombus-formation-and-thrombus-stability-on-collagen
#11
Chikahiro Terada, Masayuki Shiba, Tadashi Nagai, Masahiro Satake
BACKGROUND: Pathogen reduction technologies (PRTs) are considered for the implementation of safer platelet (PLT) transfusion. PRT treatment involves the addition of a photosensitizer to a blood component followed by ultraviolet (UV) light irradiation. However, the effects of PRT treatment on PLT thrombus formation and thrombus stability have not been satisfactorily clarified. STUDY DESIGN AND METHODS: Leukoreduced PLT concentrates (PCs) were treated with riboflavin and UV light (Mirasol PRT)...
April 17, 2017: Transfusion
https://www.readbyqxmd.com/read/28415481/modeling-of-drug-release-behavior-of-ph-and-temperature-sensitive-poly-nipaam-co-aac-ipn-hydrogels-using-response-surface-methodology-and-artificial-neural-networks
#12
Sanogo Brahima, Cihangir Boztepe, Asim Kunkul, Mehmet Yuceer
An interpenetrated polymer network (IPN) poly(NIPAAm-co-AAc) hydrogel was synthesized by two polymerization method: emulsion and solution polymerization. The pH- and temperature-sensitive hydrogel was loaded by swelling with riboflavin drug, a B2 vitamin. The release of riboflavin as a function of time has been achieved under different pH and temperature environments. The determination of experimental conditions and the analysis of drug delivery results were achieved using response surface methodology (RSM)...
June 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28414075/vitamin-b2-deficiency-enhances-the-pro-inflammatory-activity-of-adipocyte-consequences-for-insulin-resistance-and-metabolic-syndrome-development
#13
Agnieszka Irena Mazur-Bialy, Ewa Pocheć
AIMS: Adipose tissue is an endocrine organ important for regulation of such physiological processes as energy metabolism or lipids homeostasis. In an obesity state, it participates in the induction of chronic systemic inflammation accompanied by pro-inflammatory cytokines and fatty acid elevation. For this reasons, adipose tissue is involved in, e.g., insulin resistance, type 2 diabetes or hyperlipidemia development. In our previous study, we have shown that riboflavin deficiency induces a pathological pro-inflammatory response of macrophages, the main component of adipose tissue...
April 14, 2017: Life Sciences
https://www.readbyqxmd.com/read/28411331/glutaric-acidemia-type-1-a-case-of-infantile-stroke
#14
Gül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, Fatih Kardaş, Mustafa Kendirci, Sefer Kumandaş
BACKGROUND: Glutaric acidemia Type 1 (GA-1) is an autosomal recessively inherited metabolic disorder which is associated with GCDH gene mutations which alters the glutaryl-CoA dehydrogenase, an enzyme playing role in the catabolic pathways of the amino acids lysine, hydroxylysine, and tryptophan. Clinical findings are often encephalopathic crises, dystonia, and extrapyramidal symptoms. CASE REPORT: A 9-month-old male infant referred to our department with focal tonic-clonic seizures during rotavirus infection and acute infarcts in MRI...
April 15, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28407967/molecular-characterization-of-an-unauthorized-genetically-modified-bacillus-subtilis-production-strain-identified-in-a-vitamin-b2-feed-additive
#15
Valentina Paracchini, Mauro Petrillo, Ralf Reiting, Alexandre Angers-Loustau, Daniela Wahler, Andrea Stolz, Birgit Schönig, Anastasia Matthies, Joachim Bendiek, Dominik M Meinel, Sven Pecoraro, Ulrich Busch, Alex Patak, Joachim Kreysa, Lutz Grohmann
Many food and feed additives result from fermentation of genetically modified (GM) microorganisms. For vitamin B2 (riboflavin), GM Bacillus subtilis production strains have been developed and are often used. The presence of neither the GM strain nor its recombinant DNA is allowed for fermentation products placed on the EU market as food or feed additive. A vitamin B2 product (80% feed grade) imported from China was analysed. Viable B. subtilis cells were identified and DNAs of two bacterial isolates (LHL and LGL) were subjected to three whole genome sequencing (WGS) runs with different devices (MiSeq, 454 or HiSeq system)...
September 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28407169/collagen-cross-linking-with-photoactivated-riboflavin-pack-cxl-for-bacterial-keratitis-after-small-incision-lenticule-extraction-smile
#16
Tommy C Y Chan, Vanissa W S Chow, Vishal Jhanji
PURPOSE: To report a case of infectious keratitis after small incision lenticule extraction (SMILE) treated with collagen cross-linking with photoactivated riboflavin (PACK-CXL). METHODS: Case report and literature review. RESULTS: A patient presented with culture-proven bacterial keratitis 5 days after SMILE was treated with fortified topical antibiotics and PACK-CXL. Irrigation of the corneal cap-stromal bed interface, which can be difficult and affect visual outcomes, was not performed...
April 1, 2017: Journal of Refractive Surgery
https://www.readbyqxmd.com/read/28406895/the-superfamily-keeps-growing-identification-in-trypanosomatids-of-ribj-the-first-riboflavin-transporter-family-in-protists
#17
Darío E Balcazar, María Cristina Vanrell, Patricia S Romano, Claudio A Pereira, Fernando A Goldbaum, Hernán R Bonomi, Carolina Carrillo
BACKGROUND: Trypanosomatid parasites represent a major health issue affecting hundreds of million people worldwide, with clinical treatments that are partially effective and/or very toxic. They are responsible for serious human and plant diseases including Trypanosoma cruzi (Chagas disease), Trypanosoma brucei (Sleeping sickness), Leishmania spp. (Leishmaniasis), and Phytomonas spp. (phytoparasites). Both, animals and trypanosomatids lack the biosynthetic riboflavin (vitamin B2) pathway, the vital precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) cofactors...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28402850/fad-regulates-cryptochrome-protein-stability-and-circadian-clock-in-mice
#18
Arisa Hirano, Daniel Braas, Ying-Hui Fu, Louis J Ptáček
The circadian clock generates biological rhythms of metabolic and physiological processes, including the sleep-wake cycle. We previously identified a missense mutation in the flavin adenine dinucleotide (FAD) binding pocket of CRYPTOCHROME2 (CRY2), a clock protein that causes human advanced sleep phase. This prompted us to examine the role of FAD as a mediator of the clock and metabolism. FAD stabilized CRY proteins, leading to increased protein levels. In contrast, knockdown of Riboflavin kinase (Rfk), an FAD biosynthetic enzyme, enhanced CRY degradation...
April 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28394446/laser-ablation-electrospray-ionization-mass-spectrometry-with-ion-mobility-separation-reveals-metabolites-in-the-symbiotic-interactions-of-soybean-roots-and-rhizobia
#19
Sylwia A Stopka, Beverly J Agtuca, David W Koppenaal, Ljiljana Paša-Tolić, Gary Stacey, Akos Vertes, Christopher R Anderton
Technologies enabling in situ metabolic profiling of living plant systems are invaluable for understanding physiological processes and could be used for rapid phenotypic screening (e.g., to produce plants with superior biological nitrogen fixing ability). The symbiotic interaction between legumes and nitrogen-fixing soil bacteria results in a specialized plant organ (i.e., root nodule) where the exchange of nutrients between host and endosymbiont occurs. Laser ablation electrospray ionization mass spectrometry (LAESI-MS) is a method that can be performed under ambient conditions requiring minimal sample preparation...
April 10, 2017: Plant Journal: for Cell and Molecular Biology
https://www.readbyqxmd.com/read/28392939/thinner-corneas-appear-to-have-more-striking-effects-of-corneal-collagen-crosslinking-in-patients-with-progressive-keratoconus
#20
Yunfei Han, Yanyun Xu, Wei Zhu, Yuling Liu, Zhen Liu, Xiaoxiao Dou, Guoying Mu
Purpose. To analyze the outcomes and difference after UVA/riboflavin corneal collagen crosslinking (CXL) in four different corneal thickness groups of patients with progressive keratoconus. Methods. Retrospective study. Eyes with progressive keratoconus after CXL were divided into 4 subgroups as follows: group 1, thinnest corneal thickness (TCT) ≤ 400 µm; group 2, 400 µm < TCT ≤ 450 µm; group 3, 450 µm < TCT ≤ 500 µm; group 4, TCT ≥ 500 µm. Baseline, 6-month, and 12-month visual acuity, corneal topography, TCT, and endothelial cell density were evaluated...
2017: Journal of Ophthalmology
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