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https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#1
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29330961/clinical-value-of-4-hour-delayed-gadolinium-enhanced-3d-flair-mr-images-in-acute-vestibular-neuritis
#2
Hayoung Byun, Jae Ho Chung, Seung Hwan Lee, Chul Won Park, Dong Woo Park, Tae Yoon Kim
OBJECTIVE: To investigate the clinical significance of 4-hour delayed-enhanced 3.0 Tesla three-dimensional (3D) fluid-attenuated inversion recovery (FLAIR) magnetic resonance (MR) imaging in acute vestibular neuritis. STUDY DESIGN: A prospective observational study. METHODS: Twenty-nine vestibular neuritis patients were enrolled between January 2017 and June 2017. Vestibular function tests, comprising the caloric and video head impulse tests and vestibular-evoked myogenic potential measurements, were performed...
January 13, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29325415/recrystallization-of-manganite-%C3%AE-mnooh-and-implications-for-trace-element-cycling
#3
Tobias Hens, Joël Brugger, Susan Cumberland, Barbara Etschmann, Andrew J Frierdich
The recrystallization of Mn(III,IV) oxides is catalyzed by aqueous Mn(II) (Mn(II)aq) during (bio)geochemical Mn redox cycling. It is poorly understood how trace metals associated with Mn oxides (e.g., Ni) are cycled during such recrystallization. Here, we use X-ray absorption spectroscopy (XAS) to examine the speciation of Ni associated with manganite (γ-Mn(III)OOH) suspensions in the presence or absence of Mn(II)aq under variable pH conditions (pH 5.5 and 7.5). In a second set of experiments, we used a 62Ni isotope tracer to quantify the amount of dissolved Ni that exchanges with Ni incorporated in the manganite crystal structure during reactions in 1 mM Mn(II)aq and in Mn(II)-free solutions...
January 11, 2018: Environmental Science & Technology
https://www.readbyqxmd.com/read/29321987/gelam-honey-attenuates-ovalbumin-induced-airway-inflammation-in-a-mice-model-of-allergic-asthma
#4
Nur Salme Suhana Shamshuddin, Rozaini Mohd Zohdi
Allergic asthma is a chronic inflammatory disorder of the pulmonary airways. Gelam honey has been proven to possess anti-inflammatory property with great potential to treat an inflammatory condition. However, the effect of ingestion of Gelam honey on allergic asthma has never been studied. This study aimed to investigate the efficacy of Gelam honey on the histopathological changes in the lungs of a mice model of allergic asthma. Forty-two Balb/c mice were divided into seven groups: control, I, II, III, IV, V and VI group...
January 2018: Journal of Traditional and Complementary Medicine
https://www.readbyqxmd.com/read/29311084/intrapulmonary-pharmacokinetics-of-relebactam-a-novel-%C3%AE-lactamase-inhibitor-dosed-in-combination-with-imipenem-cilastatin-in-healthy-subjects
#5
Matthew L Rizk, Elizabeth G Rhee, Patricia A Jumes, Mark H Gotfried, Tian Zhao, Eric Mangin, Sheng Bi, Cynthia M Chavez-Eng, Zufei Zhang, Joan R Butterton
This Phase I study assessed the intrapulmonary pharmacokinetic profiles of relebactam (MK-7655), a novel ß-lactamase inhibitor, and imipenem. Sixteen healthy subjects received 250 mg relebactam with 500 mg imipenem/cilastatin, given IV every 6 hours for 5 doses, and were randomized to bronchoscopy/broncho-alveolar lavage at 0.5, 1, 1.5, or 3 hours after the last dose (4 subjects per time point). Both drugs penetrated the epithelial lining fluid (ELF) to a similar degree, with profiles similar in shape to the corresponding plasma profiles and apparent terminal half-lives in plasma and ELF, respectively, of 1...
January 8, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29307101/aciclovir-induced-acute-kidney-injury-in-patients-with-suspected-viral-encephalitis-encountered-on-a-liaison-neurology-service
#6
Petya Bogdanova-Mihaylova, David Burke, John P O'Dwyer, David Bradley, Jennifer A Williams, Simon J Cronin, Shane Smyth, Raymond P Murphy, Sinead M Murphy, Catherine Wall, Dominick J H McCabe
BACKGROUND: Patients with 'suspected viral encephalitis' are frequently empirically treated with intravenous aciclovir. Increasing urea and creatinine are 'common', but rapidly progressive renal failure is reported to be 'very rare'. AIMS: To describe the clinical course and outcome of cases of aciclovir-induced acute kidney injury (AKI) encountered by the Liaison Neurology Service at AMNCH and to highlight the importance of surveillance and urgent treatment of this iatrogenic complication...
January 6, 2018: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/29306909/detection-of-egfr-kras-and-braf-mutations-in-metastatic-cells-from-cerebrospinal-fluid
#7
Diane Frankel, Isabelle Nanni-Metellus, Andrée Robaglia-Schlupp, Pascale Tomasini, Julien Guinde, Fabrice Barlesi, Philippe Astoul, L'Houcine Ouafik, Florent Amatore, Véronique Secq, Elise Kaspi, Patrice Roll
BACKGROUND: In lung adenocarcinoma, molecular profiling of actionable genes has become essential to set up targeted therapies. However, the feasibility and the relevance of molecular profiling from the cerebrospinal fluid (CSF) in the context of meningeal metastasis have been poorly assessed. METHODS: We selected patients with stage IV lung adenocarcinoma harbouring metastatic cells in the CSF after cytological analysis. Seven samples from six patients were eligible for molecular testing of epidermal growth factor receptor (EGFR), V-Ki-ras2 Kirsten rat sarcoma viral oncogene homologue (KRAS), v-Raf murine sarcoma viral oncogene homologue B1 (BRAF) and human epidermal growth factor receptor 2 (HER2) mutations using quantitative polymerase chain reaction (PCR) high-resolution melting curve analysis and Sanger sequencing after DNA extraction from the cell pellets of the CSF...
January 8, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29297830/successful-treatment-of-a-clinical-elephant-endotheliotropic-herpesvirus-infection-the-dynamics-of-viral-load-genotype-analysis-and-treatment-with-acyclovir
#8
Supaphen Sripiboon, Taweepoke Angkawanish, Khajohnpat Boonprasert, Petthisak Sombutputorn, Warangkhana Langkaphin, William Ditcham, Kristin Warren
This article describes the treatment of clinical elephant endotheliotropic herpesvirus (EEHV) infection in a male Asian elephant ( Elephas maximus; approximately 3 yr old), the dynamics of viral load during the active infection, and genetic analysis of the virus. Treatment included injectable acyclovir (12 mg/kg iv, bid), antibiotic, vitamin, and fluids. Quantitative polymerase chain reaction was used to measure the viral levels in blood, which decreased continuously after initiation of intravenous acyclovir...
December 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29290380/are-postoperative-intravenous-fluids-in-patients-undergoing-elective-laparoscopic-cholecystectomy-a-necessity-a-randomized-clinical-trial
#9
Jessimara Ribeiro Henriques, Maria Isabel Toulson Davisson Correia
BACKGROUND: Intravenous (IV) fluid therapy should be individualized according to each patient's weight, disease, and comorbidities, as well as the type and duration of the operative procedure. Laparoscopic cholecystectomy represents one of the most common, short-duration operations; thus, the aim of this study was to assess the necessity of postoperative administration of IV fluids. METHOD: A randomized clinical trial with patients undergoing elective laparoscopic cholecystectomy was performed...
December 29, 2017: Surgery
https://www.readbyqxmd.com/read/29287013/non-invasive-assessment-of-significant-dehydration-in-infants-using-the-inferior-vena-cava-to-aortic-diameter-ratio-is-it-useful
#10
Doaa El Amrousy, Rasha Gamal, Shaymaa Elrifaey, Samir Hassan
OBJECTIVE: To assess the accuracy of the inferior vena cava to aorta (IVC/Ao) diameter ratio for predicting significant dehydration in infants relative to their percentage weight change and the clinical diagnosis by a physician. METHODS: A prospective observational study was performed on 200 infants with acute diarrhea presenting with clinical evidence of significant dehydration whose treatment required intravenous (IV) fluids as determined by the attending physician at a pediatric emergency department...
December 28, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29286423/an-analog-macroscopic-technique-for-studying-molecular-hydrodynamic-processes-in-dense-gases-and-liquids
#11
Jerry Dahlberg, Peter T Tkacik, Brigid Mullany, Eric Fleischhauer, Hossein Shahinian, Farzad Azimi, Jayesh Navare, Spencer Owen, Tucker Bisel, Tony Martin, Jodie Sholar, Russell G Keanini
An analog, macroscopic method for studying molecular-scale hydrodynamic processes in dense gases and liquids is described. The technique applies a standard fluid dynamic diagnostic, particle image velocimetry (PIV), to measure: i) velocities of individual particles (grains), extant on short, grain-collision time-scales, ii) velocities of systems of particles, on both short collision-time- and long, continuum-flow-time-scales, iii) collective hydrodynamic modes known to exist in dense molecular fluids, and iv) short- and long-time-scale velocity autocorrelation functions, central to understanding particle-scale dynamics in strongly interacting, dense fluid systems...
December 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29273418/pirfenidone-protects-against-paraquat-induced-lung-injury-and-fibrosis-in-mice-by-modulation-of-inflammation-oxidative-stress-and-gene-expression
#12
Fateme Pourgholamhosein, Rokhsana Rasooli, Mostafa Pournamdari, Leyla Pourgholi, Mitra Samareh-Fekri, Mahmoud Ghazi-Khansari, Maryam Iranpour, Hamid-Reza Poursalehi, Mahmoud-Reza Heidari, Ali Mandegary
In this study we investigated the protective effects and possible mechanisms of pirfenidone (PF) in paraquat (PQ)-induced lung injury and fibrosis in mice. Lung injury was induced by injection of PQ (20 mg/kg). Thereafter, mice orally received water and PF (100 and 200 mg/kg) for four weeks. After 28 days, the inflammation and fibrosis were determined in the lungs by analysis of histopathology, bronchoalveolar lavage fluid (BALF) cell count, lung wet/dry weight ratio, hydroxyproline content, and oxidative stress biomarkers...
December 19, 2017: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29258876/the-impact-of-ageing-on-male-reproductive-success-in-drosophila-melanogaster
#13
Hanna Ruhmann, Mareike Koppik, Mariana F Wolfner, Claudia Fricke
Male reproductive ageing has been mainly explained by a reduction in sperm quality with negative effects on offspring development and quality. In addition to sperm, males transfer seminal fluid proteins (Sfps) at mating; Sfps are important determinants of male reproductive success. Receipt of Sfps leads to female post-mating changes including physiological changes, and affects sperm competition dynamics. Using the fruit fly Drosophila melanogaster we studied ageing males' ability to induce female post-mating responses and determined the consequences of male ageing on their reproductive success...
December 16, 2017: Experimental Gerontology
https://www.readbyqxmd.com/read/29246434/endovascular-repair-of-acute-thoraco-abdominal-aortic-aneurysms
#14
Chiara Mascoli, Massimo Vezzosi, Andreas Koutsoumpelis, Mauro Iafrancesco, Aaron Ranasinghe, Paul Clift, Jorge Mascaro, Martin Claridge, Donald J Adam
OBJECTIVES: The outcome of endovascular repair (EVAR) for acute TAAA is reported and the applicability of the t-Branch off the shelf (OTS) device is determined. METHODS: Interrogation of a prospectively maintained database identified all patients who underwent EVAR for acute TAAA between September 2012 (when the first non-elective t-Branch case was performed) and November 2015. Early and medium-term outcomes were analysed. Survival and re-intervention-free survival were calculated by Kaplan-Meier analysis...
December 12, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29241965/perinatal-hemorrhage-from-ulceration-of-the-umbilical-cord-a-potentially-catastrophic-association-with-duodenal-and-jejunal-obstruction
#15
Danielle Aronowitz, Stephen Dolgin, Eran Bornstein, Amanda Little-Richardson, Jaya Bajaj, Alex Williamson, Esperanza Naves-Ruiz, Morris Edelman
PURPOSE: The purpose of this study is to review published reports and contribute new cases of umbilical cord ulceration (UCU) with perinatal hemorrhage into the amniotic cavity in the setting of duodenal or jejunal obstruction because knowledge of this sequence is poorly disseminated and could be lifesaving. METHODS: Published reports of UCU with hemorrhage associated with congenital duodenal or jejunal obstruction were reviewed. Chart review was conducted for the cases encountered at our institutions between January 2008 and March 2017...
November 21, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29241963/negative-pressure-wound-therapy-in-pediatric-surgery-how-and-when-to-use
#16
REVIEW
Lisieux Eyer de Jesus, Alana Bandeira Martins, Pablo Baptista Oliveira, Fernanda Gomes, Thais Leve, Samuel Dekermacher
INTRODUCTION: Negative pressure wound therapy (NPWT) has been widely adopted to treat laparostomy, abdominal compartment syndrome (ACS) and complicated wounds associated with tissue loss. The method presents specific aspects, advantages and indications in Pediatrics. Our aim is to review the evidence available about NPWT in children. METHODS: Active search for papers about NPWT in Pediatric patients. Papers referring to orthopedic problems, wound complications after Cardiac Surgery or burns were excluded...
November 21, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29234390/astragaloside-iv-ameliorates-airway-inflammation-in-an-established-murine-model-of-asthma-by-inhibiting-the-mtorc1-signaling-pathway
#17
Hualiang Jin, Limin Wang, Bei Li, Cui Cai, Jian Ye, Junbo Xia, Shenglin Ma
Astragaloside IV (AS-IV), a main active constituent of Astragalus membranaceus, has been confirmed to have antiasthmatic effects. However, it remained unclear whether the beneficial effects of AS-IV on asthma were attributed to the mTOR inhibition; this issue was the focus of the present work. BALB/c mice were sensitized and challenged with ovalbumin followed with 3 weeks of rest/recovery and then reexposure to ovalbumin. AS-IV was administrated during the time of rest and reexposure. The characteristic features of allergic asthma, including airway hyperreactivity, histopathology, cytokines (IL-4, IL-5, IL-13, IL-17, and INF-γ), and CD4+CD25+Foxp3+Treg cells in bronchoalveolar lavage fluid (BALF), and downstream proteins of mTORC1/2 signaling were examined...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/29231912/-cerebroplacental-ratio-cpr-and-amniotic-fluid-index-afi-as-prognostic-factors-of-terminating-pregnancy-with-cesarean-section-after-induction-of-labour
#18
Hanna Makles, Jacek R Wilczyński
HASH(0x49eb318) AIM: The aim of the study was to estimate the value of the cerebroplacental ratio (CPR) and amniotic fluid index (AFI) in pregnancies after 41 week as prognostic factors of terminating pregnancy with cesarean section after induction of labour. MATERIALS AND METHODS: The study included 130 pregnant women, including 100 women, between 41 and 42 weeks of gestation, in whom induced labour resulted in a cesarean section due to three main indications: lack of progress of labour - group I - 44 pregnant women, signs of foetal distress - group II - 32 pregnant women and lack of response to induced labour - group III - 24 pregnant women...
November 23, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29222475/suitability-of-various-chromatographic-and-spectroscopic-techniques-for-analysis-and-kinetic-degradation-study-of-trelagliptin
#19
Wafaa A Zaghary, Shereen Mowaka, Mostafa A Hassan, Bassam M Ayoub
Multifaceted comparative analytical methods for trelagliptin (TRL) were investigated, applied to ZAFATEK tablets and HPLC-UV was selected for a degradation kinetic study. UPLC-MS/MS (Method I), UPLC-UV (Method II), HPLC-UV (Method III), UHPLC-UV (Method IV) and direct UV (Method V) methods were developed. Methods (I-V) showed satisfactory results using TRL concentration ranges of 50-800 ng/mL, 2.5-80 μg/mL, 5-100 μg/mL, 5-100 μg/mL and 5-50 μg/mL, respectively. Multiple Reaction Monitoring (MRM) of the transition pairs of m/z 358...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29222126/autoimmune-crmp5-neuropathy-phenotype-and-outcome-defined-from-105-cases
#20
Divyanshu Dubey, Vanda A Lennon, Avi Gadoth, Sean J Pittock, Eoin P Flanagan, John E Schmeling, Andrew McKeon, Christopher J Klein
OBJECTIVE: To establish the phenotype and clinical outcomes of collapsin response-mediator protein-5 (CRMP5) autoimmune neuropathy in comparison with anti-neuronal nuclear antibody type 1 (ANNA1)-immunoglobulin G (IgG) neuropathy. METHODS: Patients with CRMP5-IgG and/or ANNA1-IgGs were identified in our service-line testing, and medical records were reviewed. RESULTS: One hundred five patients with CRMP5-IgG neuropathy (88% smokers; 69% having cancer, most commonly small cell lung cancer [75%]) were identified and compared to 51 patients with ANNA1-IgG neuropathy, 27 with coexisting CRMP5-IgG...
December 8, 2017: Neurology
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