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https://www.readbyqxmd.com/read/28145159/non-hla-gene-polymorphisms-in-juvenile-idiopathic-arthritis-associations-with-disease-outcome
#1
M Alberdi-Saugstrup, C Enevold, M Zak, S Nielsen, E Nordal, L Berntson, A Fasth, M Rygg, K Müller
OBJECTIVE: To test the hypothesis that non-HLA single-nucleotide polymorphisms (SNPs) associated with the risk of juvenile idiopathic arthritis (JIA) are risk factors for an unfavourable disease outcome at long-term follow-up. METHODS: The Nordic JIA cohort is a prospective multicentre study cohort of patients from the Nordic countries. In all, 193 patients met the inclusion criteria of having an 8 year follow-up assessment and available DNA sample. Seventeen SNPs met the inclusion criteria of having significant associations with JIA in at least two previous independent study cohorts...
February 1, 2017: Scandinavian Journal of Rheumatology
https://www.readbyqxmd.com/read/28066659/percutaneous-epicardial-ablation-of-incessant-atrial-tachycardia-originating-from-the-left-atrial-appendage
#2
Ji-Eun Ban, Tae Young Park, Sang-Weon Park
A 38-year-old woman presented with antiarrhythmic drug-refractory atrial tachycardia (AT). Holter recording demonstrated incessant episodes of AT followed by a long sinus pause. Electrophysiologic study revealed that the earliest endocardial activation was observed at the neck of the left atrial appendage (LAA). After unsuccessful endocardial ablation, epicardial access via a percutaneous subxiphoid approach demonstrated that the earliest epicardial atrial activation was observed on the opposite site to the endocardial LAA neck suggestive of ligament of Marshall (LOM) muscle sleeve as regarding the epicardial sharp potentials under guidance of a circular mapping catheter...
November 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28063087/antimicrobial-activity-and-acute-toxicity-of-ozonated-lomefloxacin-solution
#3
Amanda Marchi Duarte de Oliveira, Milena Guedes Maniero, Caio Rodrigues-Silva, José Roberto Guimarães
Lomefloxacin (LOM) is a synthetic antimicrobial from the fluoroquinolone family (FQ) used as a veterinary and human drug. Once in the environment, LOM may pose a risk to aquatic and terrestrial microorganisms due to its antimicrobial activity. This study evaluated the effect of ozonation of LOM (500 μg L(-1)), the residual antimicrobial activity against Escherichia coli and acute toxicity against Vibrio fischeri. In addition, degradation products were investigated by UHPLC-MS/MS and proposed. Ozonation was carried out varying the applied ozone dose from 0 to 54...
January 7, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28003645/hmsn-lom-in-12-czech-patients-with-one-unusual-case-due-to-uniparental-isodisomy-of-chromosome-8
#4
Dana Šafka Brožková, Jaroslava Paulasová Schwabová, Jana Neupauerová, Jana Sabová, Marcela Krůtová, Vladimír Peřina, Marie Trková, Petra Laššuthová, Pavel Seeman
Hereditary motor and sensory neuropathy-type Lom (HMSNL), also known as CMT4D, a demyelinating neuropathy with late-onset deafness is an autosomal recessive disorder threatening Roma population worldwide. The clinical phenotype was reported in several case reports before the gene discovery. HMSNL is caused by a homozygous founder mutation p.Arg148* in the N-Myc downstream-regulated gene 1. Here, we report findings from the Czech Republic, where HMSNL was found in 12 Czech patients from eight families. In these 12 patients, 11 of the causes were due to p...
March 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/27995443/pseudohypoparathyroidism-one-gene-several-syndromes
#5
REVIEW
O Tafaj, H Jüppner
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia...
December 19, 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/27982524/a-novel-ndrg1-mutation-in-a-non-romani-patient-with-cmt4d-hmsn-lom
#6
Giuseppe Piscosquito, Stefania Magri, Paola Saveri, Micaela Milani, Claudia Ciano, Laura Farina, Franco Taroni, Davide Pareyson
Charcot-Marie-Tooth disease type 4D (CMT4D), also known as hereditary motor and sensory neuropathy Lom type (HMSNL), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N-Myc downstream-regulated gene 1 (NDRG1) mutations. CMT4D is rare with only three known mutations, one of which (p.Arg148Ter) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38-year-old Italian female with motor development delay, progressive neuropathy, and sensorineural deafness...
March 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27977403/clinical-and-molecular-characterization-of-beckwith-wiedemann-syndrome-in-a-chinese-population
#7
Ho Ming Luk
BACKGROUND: The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients. METHODS: A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015. RESULTS: It was observed that 48...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27827897/comparative-analysis-of-toxic-responses-of-organic-extracts-from-diesel-and-selected-alternative-fuels-engine-emissions-in-human-lung-beas-2b-cells
#8
Helena Libalova, Pavel Rossner, Kristyna Vrbova, Tana Brzicova, Jitka Sikorova, Michal Vojtisek-Lom, Vit Beranek, Jiri Klema, Miroslav Ciganek, Jiri Neca, Katerina Pencikova, Miroslav Machala, Jan Topinka
This study used toxicogenomics to identify the complex biological response of human lung BEAS-2B cells treated with organic components of particulate matter in the exhaust of a diesel engine. First, we characterized particles from standard diesel (B0), biodiesel (methylesters of rapeseed oil) in its neat form (B100) and 30% by volume blend with diesel fuel (B30), and neat hydrotreated vegetable oil (NEXBTL100). The concentration of polycyclic aromatic hydrocarbons (PAHs) and their derivatives in organic extracts was the lowest for NEXBTL100 and higher for biodiesel...
November 3, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27811658/first-report-of-some-known-trichodinella-epizootica-%C3%A5-ramek-hu%C3%A5-ek-1953-br-and-tripartiella-lom-1959-from-the-cultured-oranda-gold-fish-carassius-auratus-auratus-in-india
#9
Mandira Saha, P K Bandyopadhyay
Trichodiniasis of fishes cause economic losses in the fish industry through mortality and decrease growth rate. Very few studies of these ectoparasites have been made in India. A comprehensive icthyoparasotological survey in some ornamental fish farms of different parts of India has been done since March 2014-May 2015. During the study these trichodinid parasites have been identified from the gills of Oranda Gold Fish (Carassius auratus auratus L.). They are Trichodinella epizootica, Tripartiella viz. Tripartiella bulbosa, Tripartiella copiosa and Tripartiella obtusa...
November 2, 2016: Zootaxa
https://www.readbyqxmd.com/read/27802328/is-time-to-reach-edss-6-0-faster-in-patients-with-late-onset-versus-young-onset-multiple-sclerosis
#10
Raed Alroughani, Saeed Akhtar, Samar Ahmed, Raed Behbehani, Jasem Al-Hashel
BACKGROUND & OBJECTIVES: Published natural history data on late-onset of multiple sclerosis are limited. We aimed to assess the risk of attaining EDSS 6.0 among patients with late-onset (> 40 years) MS (LOMS) and young-onset (18-40 years) MS (YOMS). METHODS: This cross-sectional cohort study was conducted to identify LOMS and YOMS patients' with relapsing remitting course at MS diagnosis. Time (years) to reach sustained EDSS 6.0 was compared between LOMS and AOMS patients...
2016: PloS One
https://www.readbyqxmd.com/read/27782363/dna-damage-potential-of-engine-emissions-measured-in-vitro-by-micronucleus-test-in-human-bronchial-epithelial-cells
#11
Tereza Cervena, Andrea Rossnerova, Jitka Sikorova, Vit Beranek, Michal Vojtisek-Lom, Miroslav Ciganek, Jan Topinka, Pavel Rossner
Internal combustion engine emissions belong among the major anthropogenic sources of air pollution in urban areas. According to the International Agency for Research on Cancer (IARC), there is sufficient evidence of the carcinogenicity of diesel exhaust in humans. Although alternative fuels, mainly biodiesel, have recently become popular, little is still known about the genotoxicity of emissions from these fuels. We analysed DNA damage expressed as the frequency of micronuclei (MN) in human bronchial epithelial cells (BEAS-2B), induced by extractable organic matter (EOM; tested concentrations: 1, 10 and 25 μg/ml) obtained from particle emissions from various blends of biodiesel with diesel fuels (including neat diesel fuel (B0), a blend of 70% B0 and 30% biodiesel (B30) and neat biodiesel (B100))...
October 26, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27772735/retinal-imaging-and-axonal-degeneration-in-later-onset-multiple-sclerosis
#12
Konstantin Huhn, Robert Lämmer, Hanna Zimmermann, Alexandra Lämmer, Anne Waschbisch, Kathrin Utz, René Markus Gieß, Friedemann Paul, Ralf A Linker, De-Hyung Lee
BACKGROUND: Multiple Sclerosis (MS) is a chronic inflammatory disease of the CNS typically affecting younger adults and resulting in neuro-axonal degeneration already at early stages of the disease. Less is known about the effects of a later disease onset (LOMS, onset >50years of age). Analysis of retinal layers by optical coherence tomography (OCT) is a non-invasive method to investigate retinal and neuro-axonal degeneration. We applied OCT to detect differences in retinal damage depending on a later disease manifestation...
November 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27725216/specific-combinations-of-ion-channel-inhibitors-reduce-excessive-ca-2-influx-as-a-consequence-of-oxidative-stress-and-increase-neuronal-and-glial-cell-viability-in-vitro
#13
Ryan L O'Hare Doig, Carole A Bartlett, Nicole M Smith, Stuart I Hodgetts, Sarah A Dunlop, Livia Hool, Melinda Fitzgerald
Combinations of Ca(2+) channel inhibitors have been proposed as an effective means to prevent excess Ca(2+) flux and death of neurons and glia following neurotrauma in vivo. However, it is not yet known if beneficial outcomes such as improved viability have been due to direct effects on intracellular Ca(2+) concentrations. Here, the effects of combinations of Lomerizine (Lom), 2,3-dioxo-7-(1H-imidazol-1-yl)6-nitro-1,2,3,4-tetrahydro-1-quinoxalinyl]acetic acid monohydrate (YM872), 3,5-dimethyl-1-adamantanamine (memantine (Mem)) and/or adenosine 5'-triphosphate periodate oxidized sodium salt (oxATP) to block voltage-gated Ca(2+) channels, Ca(2+) permeable α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors, NMDA receptors and purinergic P2X7 receptors (P2X7R) respectively, on Ca(2+) concentration and viability of rat primary mixed cortical (MC) cultures exposed to hydrogen peroxide (H2O2) insult, were assessed...
December 17, 2016: Neuroscience
https://www.readbyqxmd.com/read/27695785/dietary-linseed-oil-with-or-without-malate-increases-conjugated-linoleic-acid-and-oleic-acid-in-milk-fat-and-and-gene-expression-in-mammary-gland-and-milk-somatic-cells-of-lactating-goats
#14
X Z Li, S H Choi, C G Yan, J S Shin, S B Smith
Supplementary dietary plant oils have the potential to alter milk fatty acid composition in ruminants as a result of changes in the amount and kind of fatty acid precursors. We hypothesized that linseed oil in combination with malate (a key propionate precursor in the rumen) would increase ∆9 unsaturated fatty acids and specific gene expression in somatic cells and mammary glands of lactating goats. Twelve lactating goats were used in a 3 × 3 Latin square design. Treatments included the basal diet (CON), the CON plus 4% linseed oil (LO), and the CON plus 4% linseed oil and 2% -malate (LOM)...
August 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27599928/impact-of-porcine-reproductive-and-respiratory-syndrome-virus-and-porcine-circovirus-2-infection-on-the-potency-of-the-classical-swine-fever-vaccine-lom-strain
#15
Seong-In Lim, Hye-Young Jeoung, Byounghan Kim, Jae-Young Song, Jaejo Kim, Ha-Young Kim, In-Soo Cho, Gye-Hyeong Woo, Joong-Bok Lee, Dong-Jun An
The classical swine fever (CSF) vaccine, which is derived from the LOM strain of the CSF virus (CSFV), induces protective immunity against CSFV infection. However, several factors influence vaccine efficacy. Evidence suggests that infection by porcine reproductive and respiratory syndrome virus (PRRSV) and/or porcine circovirus 2 (PCV2) reduces the efficacy of several vaccines. Here, we examined the effect of PRRSV or PCV2 alone or co-infection by PRRSV/PCV2 on the potency of the LOM vaccine in pigs. Neither CSFV antibody levels nor the period during which CSFV antigens were detectable in LOM-vaccinated pigs were negatively affected by infection by PRRSV or PCV2...
September 25, 2016: Veterinary Microbiology
https://www.readbyqxmd.com/read/27548982/-development-of-determination-method-of-fluoroquinolone-antibiotics-in-sludge-based-on-solid-phase-extraction-and-hplc-fluorescence-detection-analysis
#16
Xiao-hu Dai, Yong-gang Xue, Hua-jie Liu, Ling-ling Dai, Han Yan, Ning Li
Fluoroquinolone antibiotics (FQs), as the common pharmaceuticals and personal care products (PPCPs), are widespread in the environment. FQs contained in wastewater would be ultimately enriched in sludge, posing a potential threat to the consequent sludge utilization. To optimize the analytical method applicable to the determination of FQs in sludge, the authors selected ofloxacin (OFL), norfioxacin (NOR), ciprofloxacin (CIP) and lomefloxacin (LOM) as the target FQs, and established a method which was based on cell lysis, FQs extraction with triethylamine/methanol/water solution, Solid Phase Extraction (SPE) and HPLC-Fluorescence Detection (FLD) determination...
April 15, 2016: Huan Jing Ke Xue= Huanjing Kexue
https://www.readbyqxmd.com/read/27504416/comparison-of-dental-caries-experience-in-children-suffering-from-epilepsy-with-and-without-administration-of-long-term-liquid-oral-medication
#17
Ankita Goyal, Manjunath Chaluvaiah Bhadravathi, Adarsh Kumar, Ridhi Narang, Ambika Gupta, Harneet Singh
INTRODUCTION: Sucrose is added as sweetening agent in liquid oral medication (LOM) to mask the acrid taste of medicines which may be potentially cariogenic. Many children under long term LOM therapy for treatment of epilepsy may be susceptible to dental caries. AIM: To assess and compare dental caries experience in children under long term liquid oral medication with those not under such medication among 2-12 years old children suffering from epilepsy. MATERIALS AND METHODS: A cross-sectional study was undertaken on a total of 84 children aged 2-12 years, who were suffering from epilepsy receiving liquid oral medication for more than 3 months were selected (study group) and for comparison 106 children of similar age group and disease but on other forms of medication were included as control group...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27486398/proposed-training-to-meet-challenges-of-large-scale-data-in-neuroscience
#18
William Grisham, Barbara Lom, Linda Lanyon, Raddy L Ramos
The scale of data being produced in neuroscience at present and in the future creates new and unheralded challenges, outstripping conventional ways of handling, considering, and analyzing data. As neuroinformatics enters into this big data era, a need for a highly trained and perhaps unique workforce is emerging. To determine the staffing needs created by the impending era of big data, a workshop (iNeuro Project) was convened November 13-14, 2014. Participants included data resource providers, bioinformatics/analytics trainers, computer scientists, library scientists, and neuroscience educators...
2016: Frontiers in Neuroinformatics
https://www.readbyqxmd.com/read/27449842/periodontitis-may-be-associated-with-gestational-diabetes-mellitus-but-not-affirmatively
#19
Hong Jiang, Xu Xiong
ARTICLE TITLE AND BIBLIOGRAPHIC INFORMATION: Association Between Periodontitis and Gestational Diabetes Mellitus: Systematic Review and Meta-Analysis. Esteves Lima RP, es Cyrino RM, Dutra BC, da Silveira JO, Martins CC, Cota LOM, Costa FO. J Periodontol 2016;87(1):48-57. SOURCE OF FUNDING: The research was supported by the Coordination for the Improvement of Higher Education Personnel (CAPES, Brazil), the Minas Gerais State Research Foundation (FAPEMIG, Brazil), the National Council of Scientific and Technological Development (CNPq, Brazil), and the Dean of Research from the Federal University of Minas Gerais (PRPq/UFMG, Brazil) TYPE OF STUDY/DESIGN: Systematic review with meta-analysis...
June 2016: Journal of Evidence-based Dental Practice
https://www.readbyqxmd.com/read/27429752/unified-theory-of-alzheimer-s-disease-utad-implications-for-prevention-and-curative-therapy
#20
REVIEW
Michael Nehls
The aim of this review is to propose a Unified Theory of Alzheimer's disease (UTAD) that integrates all key behavioural, genetic and environmental risk factors in a causal chain of etiological and pathogenetic events. It is based on three concepts that emanate from human's evolutionary history: (1) The grandmother-hypothesis (GMH), which explains human longevity due to an evolutionary advantage in reproduction by trans-generational transfer of acquired knowledge. Consequently it is argued that mental health at old-age must be the default pathway of humans' genetic program and not development of AD...
2016: Journal of Molecular Psychiatry
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