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https://www.readbyqxmd.com/read/29053833/clinical-pathological-and-functional-characterization-of-riboflavin-responsive-neuropathy
#1
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe H R Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James E C Jepson, Henry Houlden
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function mutations in two riboflavin transporter genes, SLC52A2 and SLC52A3, have recently been linked to Brown-Vialetto-Van Laere syndrome. However, the genetic frequency, neuropathology and downstream consequences of riboflavin transporter mutations are unclear. By screening a large cohort of 132 patients with early-onset severe sensory, motor and cranial nerve neuropathy we confirmed the strong genetic link between riboflavin transporter mutations and Brown-Vialetto-Van Laere syndrome, identifying 22 pathogenic mutations in SLC52A2 and SLC52A3, 14 of which were novel...
September 26, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053015/susceptibility-biomarker-detection-in-urine-exfoliate-dna
#2
Pieranna Chiarella, Damiano Carbonari, Pasquale Capone, Delia Cavallo, Sergio Iavicoli, Antonella Mansi, Renata Sisto, Giovanna Tranfo
AIM: The occupational biomonitoring of exposures to carcinogens is carried out by measuring dose (metabolites) and susceptibility biomarkers (gene polymorphisms) in two biological matrices: urine for metabolite detection and blood for genotyping. Blood is the most common substrate but has some disadvantages including: invasiveness of the harvesting technique; need of specialized staff and equipment; and high infection risk. METHODS & RESULTS: We propose our in-house approach using urine as single sample in 20 volunteers for simultaneous detection of dose and susceptibility biomarkers in order to verify efficacy and feasibility...
October 20, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/29052944/differential-expression-of-the-three-alcanivorax-borkumensis-sk2-genes-coding-for-the-p450-cytochromes-involved-in-the-assimilation-of-hydrocarbons
#3
Emma Sevilla, Luis Yuste, Renata Moreno, Fernando Rojo
Alcanivorax borkumensis, a marine bacterium highly specialized in degrading linear and branched alkanes, plays a key ecological role in the removal of marine oil spills. It contains several alternative enzyme systems for terminal hydroxylation of alkanes, including three P450 cytochromes (P450-1, P450-2 and P450-3). The present work shows cytochrome P450-1 to be expressed from the promoter of the upstream gene fdx. Promoter Pfdx was more active when C8 -C18 n-alkanes or pristane were assimilated than when pyruvate was available...
October 20, 2017: Environmental Microbiology Reports
https://www.readbyqxmd.com/read/29052471/a-review-about-lycopene-induced-nuclear-hormone-receptor-signalling-in-inflammation-and-lipid-metabolism-via-still-unknown-endogenous-apo-10%C3%A2-lycopenoids
#4
Catherine Caris-Veyrat, Ada L Garcia, Eric Reynaud, Renata Lucas, Gamze Aydemir, Ralph Rühl
Lycopene is the red pigment in tomatoes and tomato products and is an important dietary carotenoid found in the human organism. Lycopene-isomers, oxidative lycopene metabolites and apo-lycopenoids are found in the food matrix. Lycopene intake derived from tomato consumption is associated with alteration of lipid metabolism and a lower incidence of cardiovascular diseases (CVD). Lycopene is mainly described as a potent antioxidant but novel studies are shifting towards its metabolites and their capacity to mediate nuclear receptor signalling...
October 20, 2017: International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition
https://www.readbyqxmd.com/read/29050323/histone-deacetylase-inhibitor-thailandepsin-a-activates-notch-signaling-and-suppresses-neuroendocrine-cancer-cell-growth-in-vivo
#5
Samuel Jang, Andrew Janssen, Zviadi Aburjania, Matthew B Robers, April Harrison, Ajitha Dammalapati, Yi-Qiang Cheng, Herbert Chen, Renata Jaskula-Sztul
Novel therapies for neuroendocrine (NE) cancers are desperately needed as they frequently present as metastatic disease and cause debilitating symptoms by secreting excessive hormones. Induction of Notch isoforms has a tumor suppressive effect in NE cancer cell lines, and we have observed that histone deacetylase inhibitors (HDACi) potently activate Notch. In this study, we describe the potential for Burkholderia thailandensis-derived class I HDACi thailandepsin A (TDP-A) as a Notch activator and therapeutic agent against NE cancer...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29048947/emergence-of-mcr-1-producing-salmonella-enterica-serovar-typhimurium-from-retail-meat-first-detection-in-brazil
#6
Renata Batista Rau, Daiana de Lima-Morales, Priscila Lamb Wink, Aldemir Reginato Ribeiro, Andreza Francisco Martins, Afonso Luis Barth
No abstract text is available yet for this article.
October 19, 2017: Foodborne Pathogens and Disease
https://www.readbyqxmd.com/read/29047048/correction-to-omeprazole-absorption-and-fasting-gastrinemia-after-roux-en-y-gastric-bypass
#7
Renata V A Collares-Pelizaro, José S Santos, Carla B Nonino, Larissa Alves Dos Reis Dias, Cristiane M Gaitani, Wilson Salgado
Larissa Alves dos Reis Dias wasmistakenly included in the 13 acknowledgment section of this article, and was mistakenly.
October 18, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/29046482/blunted-rise-in-brain-glucose-levels-during-hyperglycemia-in-adults-with-obesity-and-t2dm
#8
Janice J Hwang, Lihong Jiang, Muhammad Hamza, Elizabeth Sanchez Rangel, Feng Dai, Renata Belfort-DeAguiar, Lisa Parikh, Brian B Koo, Douglas L Rothman, Graeme Mason, Robert S Sherwin
In rodent models, obesity and hyperglycemia alter cerebral glucose metabolism and glucose transport into the brain, resulting in disordered cerebral function as well as inappropriate responses to homeostatic and hedonic inputs. Whether similar findings are seen in the human brain remains unclear. In this study, 25 participants (9 healthy participants; 10 obese nondiabetic participants; and 6 poorly controlled, insulin- and metformin-treated type 2 diabetes mellitus (T2DM) participants) underwent 1H magnetic resonance spectroscopy scanning in the occipital lobe to measure the change in intracerebral glucose levels during a 2-hour hyperglycemic clamp (glucose ~220 mg/dl)...
October 19, 2017: JCI Insight
https://www.readbyqxmd.com/read/29045942/quantitative-renal-echogenicity-as-a-tool-for-diagnosis-of-advanced-chronic-kidney-disease-in-patients-with-glomerulopathies-and-no-liver-disease
#9
Alexandre B Libório, Fernanda Macedo de Oliveira Neves, Candice Bezerra Torres de Melo, Tacyano Tavares Leite, Renata de Almeida Leitão
BACKGROUND/AIMS: Glomerulopathy patients are prone to developing transitory reduced glomerular filtration rate (GFR), which can be difficult to differentiate from irreversible chronic kidney disease (CKD). Renal ultrasound can be useful, but differently from renal length, quantitative renal echogenicity has not been formerly evaluated regarding its capacity to identify irreversible advanced CKD. METHODS: A prospective study was performed, where quantitative renal echogenicity was performed during renal biopsy in patients with suspected glomerular disease (n=197)...
October 18, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29043661/development-of-adenosine-deaminase-specific-igy-antibodies-diagnostic-and-inhibitory-application
#10
Agnieszka Łupicka-Słowik, Mateusz Psurski, Renata Grzywa, Kamila Bobrek, Patrycja Smok, Maciej Walczak, Andrzej Gaweł, Tadeusz Stefaniak, Józef Oleksyszyn, Marcin Sieńczyk
Adenosine deaminase (ADA) is currently used as a diagnostic marker for tuberculous pleuritis. Although ADA has been suggested as a potential marker for several types of cancer, the importance of each of ADA isoforms as well as their levels and enzymatic activities in tumors need to be further investigated. Herein we developed avian immunoglobulin Y highly specific to human ADA via hens immunization with calf adenosine deaminase. The obtained antibodies were used for the development of a sensitive double-egg yolk immunoglobulin (IgY) sandwich ELISA assay with an ADA detection limit of 0...
October 17, 2017: Applied Biochemistry and Biotechnology
https://www.readbyqxmd.com/read/29043471/nanostructured-lipid-carrier-co-loaded-with-doxorubicin-and-docosahexaenoic-acid-as-a-theranostic-agent-evaluation-of-biodistribution-and-antitumor-activity-in-experimental-model
#11
Renata S Fernandes, Juliana O Silva, Samuel V Mussi, Sávia C A Lopes, Elaine A Leite, Geovanni D Cassali, Valbert N Cardoso, Danyelle M Townsend, Patrick M Colletti, Lucas A M Ferreira, Domenico Rubello, André L B de Barros
PURPOSE: Nanotheranostic platforms, i.e., the combination of both therapeutic and diagnostic agents on a single platform, are emerging as an interesting tool for the personalized cancer medicine. Therefore, the aim of this work was to evaluate the in vivo properties of a Tc-99m-labeled nanostructured lipid carrier (NLC) formulation, co-loaded with doxorubicin (DOX) and docosahexaenoic acid (DHA), for theranostic applications. PROCEDURES: NLC-DHA-DOX were prepared busing the hot melting homogenization method using an emulsification-ultrasound and were radiolabeled with Tc-99m...
October 17, 2017: Molecular Imaging and Biology: MIB: the Official Publication of the Academy of Molecular Imaging
https://www.readbyqxmd.com/read/29042784/19q12q13-2-duplication-syndrome-neuropsychiatric-long-term-follow-up-of-a-new-case-and-literature-update
#12
Renata Nacinovich, Nicoletta Villa, Fiorenza Broggi, Cristina Tavaniello, Monica Bomba, Donatella Conconi, Serena Redaelli, Elena Sala, Marialuisa Lavitrano, Francesca Neri
Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29042440/plant-pathogenesis-related-proteins-of-the-cacao-fungal-pathogen-moniliophthora-perniciosa-differ-in-their-lipid-binding-specificities
#13
Rabih Darwiche, Ola El Atab, Renata Moro Baroni, Paulo J P L Teixeira, Jorge M C Mondego, Gonçalo A G Pereira, Roger Schneiter
Moniliophthora perniciosa is the causative agent of witches' broom disease, which devastates cacao cultures in South America. This pathogenic fungus infects meristematic tissues and derives nutrients from the plant apoplast during an unusually long-lasting biotrophic stage. In order to survive, the fungus produces proteins to suppress the plant immune response. Proteins of the Pathogenesis Related 1 (PR-1)/CAP superfamily have been implicated in fungal virulence and immune suppression. The genome of M. perniciosa encodes eleven homologues of plant PR-1 proteins, designated MpPR-1 proteins, but their precise mode of action is poorly understood...
October 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29042181/opposing-roles-of-pgd2-in-gbm
#14
Matthew Thomas Ferreira, Renata Nascimento Gomes, Alexandros Theodoros Panagopoulos, Fernando Gonçalves de Almeida, José Carlos Esteves Veiga, Alison Colquhoun
BACKGROUND: The World Health Organization classifies glioblastoma (GBM) as a grade IV astrocytoma. Despite the advances in chemotherapy, surgery, and radiation treatments that improve a patient's length of survival, the overall trajectory of the disease remains unchanged. GBM cells produce significant levels of various types of bioactive lipids. Prostaglandin D2 (PGD2) influences both pro- and anti-tumorigenic activities in the cell; however, its role in GBM is unclear. Therefore, this study aimed to identify the impact of PGD2 on GBM cell activities in vitro...
October 14, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/29041820/applying-the-icf-linking-rules-to-compare-population-based-data-from-different-sources-an-exemplary-analysis-of-tools-used-to-collect-information-on-disability
#15
Lenildo de Moura, Wederson Rufino Dos Santos, Shamyr Sulyvan de Castro, Elizabeth Ito, Danilo Campos da Luz E Silva, Renata Tiene de Carvalho Yokota, Zohra Abaakouk, Heleno Rodrigues Corrêa Filho, Marco Antonio Gomes Pérez, Carolina Saskia Fellinghauer, Carla Sabariego
BACKGROUND: Data on disability are regularly collected by different institutions or ministries using specific tools for different purposes, for instance to estimate the prevalence of disability or eligibility of specific populations for social benefits. The interoperability of disability data collected in countries is essential for policy making and to monitor the implementation of the Convention on the Rights of Persons with Disabilities. The first objective of this paper is to map and compare tools that collect data on disability for different purposes, more specifically the Brazilian National Health Survey and the Brazilian Functioning Index to the World Health Organization (WHO) and the World Bank Model Disability Survey (MDS), currently recommended as a standard tool for disability measurement...
October 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29040816/lamin-a-c-mutation-associated-with-lipodystrophy-influences-adipogenic-differentiation-of-stem-cells-through-interaction-with-notch-signaling
#16
Ksenia Perepelina, Renata I Dmitrieva, Elena Ignatieva, Aleksandra Borodkina, Anna Kostareva, Anna Malashicheva
Lamin A/C is involved in many cellular functions due to its ability to bind chromatin and transcription factors and affect their properties. Mutations of LMNA gene encoding lamin A/C affect differentiation capacity of stem cells. However, signaling pathways involved in interaction with lamins in cellular differentiation remain unclear. Lipodystrophy associated with LMNA mutation R482L causes loss of fat tissue. In this study we investigated the role of LMNA mutation R482L in modulating Notch signaling activity in adipogenic differentiation of mesenchymal stem cells...
October 17, 2017: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/29040012/outcome-of-acute-lymphoblastic-leukemia-in-children-with-down-syndrome-polish-pediatric-leukemia-and-lymphoma-study-group-report
#17
Joanna Zawitkowska, Teresa Odój, Katarzyna Drabko, Agnieszka Zaucha-Prażmo, Julia Rudnicka, Michał Romiszewski, Michał Matysiak, Kinga Kwiecińska, Magdalena Ćwiklińska, Walentyna Balwierz, Joanna Owoc-Lempach, Katarzyna Derwich, Jacek Wachowiak, Maciej Niedźwiecki, Elżbieta Adamkiewicz-Drożyńska, Joanna Trelińska, Wojciech Młynarski, Andrzej Kołtan, Mariusz Wysocki, Renata Tomaszewska, Tomasz Szczepański, Marcin Płonowski, Maryna Krawczuk-Rybak, Tomasz Ociepa, Tomasz Urasiński, Agnieszka Mizia-Malarz, Grażyna Sobol-Milejska, Grażyna Karolczyk, Jerzy Kowalczyk
Children with Down syndrome (DS) have a 20-fold increased risk of developing leukemia compared with the general population. The aim of the study was to analyze the outcome of patients diagnosed with Down syndrome and acute lymphoblastic leukemia (ALL) in Poland between the years 2003 and 2010. A total of 1848 children were diagnosed with ALL (810 females and 1038 males). Of those, 41 (2.2%) had DS. The children were classified into three risk groups: a standard-risk group-14 patients, an intermediate-risk group-24, a high-risk group-3...
October 17, 2017: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/29040003/dietary-risk-evaluation-for-28-polycyclic-aromatic-hydrocarbons-pahs-in-tea-preparations-made-of-teas-available-on-the-polish-retail-market
#18
Marek Roszko, Marta Kamińska, Krystyna Szymczyk, Renata Jędrzejczak
The aim of this work was to assess dietary risk resulting from consumption of polycyclic aromatic hydrocarbons (PAHs) with tea infusions. To this end, levels of 28 PAHs in black, green, red and white teas available on the Polish retail market have been assessed. Profiles and correlation between concentrations of individual PAHs have been identified. A model study on transfer of PAHs from tea leaves into tea preparations has been conducted. Relatively high concentrations of 28 evaluated PAHs have been found in 58 tested samples of black, green, red and white teas sampled on the Polish retail market...
October 17, 2017: Journal of Environmental Science and Health. Part. B, Pesticides, Food Contaminants, and Agricultural Wastes
https://www.readbyqxmd.com/read/29038262/severe-infusion-related-adverse-events-and-renal-failure-in-patients-receiving-high-dose-intravenous-polymyxin-b
#19
Josiane F John, Diego R Falci, Maria Helena Rigatto, Renata D Oliveira, Thaysa G Kremer, Alexandre P Zavascki
Very high doses of polymyxin B (PMB) have been addressed in in vitro experiments against carbapenem-resistant Gram-negative bacilli as a strategy to improve bacterial killing and suppress resistance emergence. However, the toxicities of very high doses in patients are unknown. This is a retrospective cohort study assessing patients receiving >3mg/kg/day or a total dose ≥250mg/day of PMB. The main outcomes were severe infusion-related adverse event according to Common Terminology Criteria for Adverse Criteria and renal failure category of RIFLE criteria for acute kidney injury (AKI) during treatment...
October 16, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29037058/-efficacy-of-the-population-based-pilot-colorectal-screening-program-hungary-csongr%C3%A3-d-county-2015
#20
Mariann Rutka, Tamás Molnár, Renáta Bor, Klaudia Farkas, Anna Fábián, Márk Győrfi, Anita Bálint, Ágnes Milassin, Mónika Szűcs, László Tiszlavicz, Ferenc Nagy, Zoltán Szepes
INTRODUCTION: In Hungary, a nationwide colorectal screening program is about to be introduced in order to improve the extremely high mortality rate of colorectal cancer (CRC). AIM: The aim of our study was to summarize experiences and assess short-term efficacy of the population-based pilot colorectal screening program in 2015 in Csongrád County, Hungary. PATIENTS AND METHOD: Asymptomatic individuals between the ages of 50 and 70 with average risk of colorectal cancer participated in the program that was based on the two-step screening method (i...
October 2017: Orvosi Hetilap
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