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https://www.readbyqxmd.com/read/27900673/expansion-of-the-phenotypic-spectrum-of-propionic-acidemia-with-isolated-elevated-propionylcarnitine
#1
Gerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, Kiki Ugarte, Nadia Merchant, William J Craigen, V Reid Sutton, Sarah H Elsea
We report three patients with elevations of propionylcarnitine (C3), one without elevations of 2-methylcitrate and 3-hydroxypropionate in urine organic acid analysis, and the other two showing only mild elevations, all of whom were subsequently confirmed to have propionic acidemia by molecular analysis of PCCA and PCCB genes. To date, they have had a mild clinical course. These cases illustrate the importance of considering high C3 as the only biochemical abnormality in a diagnosis of propionic acidemia. Since mild C3 elevations may be overlooked and considered non-diagnostic in isolation, we advise considering a diagnosis of propionic acidemia even in the absence of significant elevations 2-methylcitrate or 3-hydroxypropionate in urine organic acid analysis...
November 30, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27815858/a-retrospective-study-of-azacitidine-treatment-in-patients-with-intermediate-2-or-high-risk-myelodysplastic-syndromes-in-a-real-world-clinical-setting-in-greece
#2
Vasiliki Pappa, Achilles Anagnostopoulos, Eleni Bouronikou, Evangelos Briasoulis, Ioannis Kotsianidis, Maria Pagoni, Panagiotis Zikos, Konstantinos Tsionos, Nora Viniou, John Meletis, Helen Papadaki, Anna Kioumi, Athanasios Galanopoulos, Elisavet-Christine Vervessou, Elias Poulakidas, Panagiotis Karmas, Kiki Karvounis, Argiris Symeonidis
For patients with intermediate-2 or high risk [according to the International Prognostic Scoring System (IPSS)] myelodysplastic syndromes (MDS), azacitidine treatment offers hematologic improvement (HI) but also has the potential to modify the natural disease course. 'RETRO-AZA-MDS-001', a retrospective chart review study was conducted from February to November 2012 across 17 hematology hospital sites of Greece, aiming to evaluate the clinical efficacy and safety profile of azacitidine in IPSS intermediate-2/high risk adult MDS patients in routine care...
November 4, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27809888/the-struggle-by-caenorhabditis-elegans-to-maintain-proteostasis-during-aging-and-disease
#3
REVIEW
Elise A Kikis
: The presence of only small amounts of misfolded protein is an indication of a healthy proteome. Maintaining proteome health, or more specifically, "proteostasis," is the purview of the "proteostasis network." This network must respond to constant fluctuations in the amount of destabilized proteins caused by errors in protein synthesis and exposure to acute proteotoxic conditions. Aging is associated with a gradual increase in damaged and misfolded protein, which places additional stress on the machinery of the proteostasis network...
November 3, 2016: Biology Direct
https://www.readbyqxmd.com/read/27790212/the-influence-of-sporulation-conditions-on-the-spore-coat-protein-composition-of-bacillus-subtilis-spores
#4
Wishwas R Abhyankar, Kiki Kamphorst, Bhagyashree N Swarge, Henk van Veen, Nicole N van der Wel, Stanley Brul, Chris G de Koster, Leo J de Koning
Spores are of high interest to the food and health sectors because of their extreme resistance to harsh conditions, especially against heat. Earlier research has shown that spores prepared on solid agar plates have a higher heat resistance than those prepared under a liquid medium condition. It has also been shown that the more mature a spore is, the higher is its heat resistance most likely mediated, at least in part, by the progressive cross-linking of coat proteins. The current study for the first time assesses, at the proteomic level, the effect of two commonly used sporulation conditions on spore protein presence...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27768380/inhibited-temperament-and-hippocampal-volume-in-offspring-of-parents-with-bipolar-disorder
#5
Eunjoo Kim, Amy Garrett, Spencer Boucher, Min-Hyeon Park, Meghan Howe, Erica Sanders, Ryan G Kelley, Allan L Reiss, Kiki D Chang, Manpreet K Singh
BACKGROUND: Prior studies have suggested that inhibited temperament may be associated with an increased risk for developing anxiety or mood disorder, including bipolar disorder. However, the neurobiological basis for this increased risk is unknown. The aim of this study was to examine temperament in symptomatic and asymptomatic child offspring of parents with bipolar disorder (OBD) and to investigate whether inhibited temperament is associated with aberrant hippocampal volumes compared with healthy control (HC) youth...
October 21, 2016: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/27714409/filamentous-actin-accumulates-during-plant-cell-penetration-and-cell-wall-plug-formation-in-phytophthora-infestans
#6
Kiki Kots, Harold J G Meijer, Klaas Bouwmeester, Francine Govers, Tijs Ketelaar
The oomycete Phytophthora infestans is the cause of late blight in potato and tomato. It is a devastating pathogen and there is an urgent need to design alternative strategies to control the disease. To find novel potential drug targets, we used Lifeact-eGFP expressing P. infestans for high resolution live cell imaging of the actin cytoskeleton in various developmental stages. Previously, we identified actin plaques as structures that are unique for oomycetes. Here we describe two additional novel actin configurations; one associated with plug deposition in germ tubes and the other with appressoria, infection structures formed prior to host cell penetration...
October 6, 2016: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27680030/gonadal-function-in-boys-with-newly-diagnosed-cancer-before-the-start-of-treatment
#7
Kiki M G J Wigny, Wendy van Dorp, Anne-Lotte L F van der Kooi, Yolanda B de Rijke, Andrica C H de Vries, Marij Smit, Saskia M F Pluijm, Erica L T van den Akker, Rob Pieters, Joop S E Laven, Marry M van den Heuvel-Eibrink
STUDY QUESTION: Are Inhibin B and testosterone levels reduced in boys with newly diagnosed cancer prior to therapy? SUMMARY ANSWER: Pretreatment serum levels of Inhibin B and testosterone are significantly reduced in boys with newly diagnosed cancer, compared to reference values. WHAT IS ALREADY KNOWN: Disease-related gonadal impairment has been demonstrated in girls and young women diagnosed with cancer, prior to therapy. STUDY DESIGN, SIZE, DURATION: We conducted a descriptive study in boys newly diagnosed with cancer between January 2006 and February 2014...
November 2016: Human Reproduction
https://www.readbyqxmd.com/read/27642224/surface-tensions-of-ionic-liquids-non-regular-trend-along-the-number-of-cyano-groups
#8
Hugo F D Almeida, Pedro J Carvalho, Kiki A Kurnia, José A Lopes-da-Silva, João A P Coutinho, Mara G Freire
Ionic liquids (ILs) with cyano-functionalized anions are a set of fluids that are still poorly characterized despite their remarkably low viscosities and potential applications. Aiming at providing a comprehensive study on the influence of the number of -CN groups through the surface tension and surface organization of ILs, the surface tensions of imidazolium-based ILs with cyano-functionalized anions were determined at atmospheric pressure and in the (298.15 to 343.15) K temperature range. The ILs investigated are based on 1-alkyl-3-methylimidazolium cations (alkyl = ethyl, butyl and hexyl) combined with the [SCN](-), [N(CN)2](-), [C(CN)3](-) and [B(CN)4](-)anions...
February 15, 2016: Fluid Phase Equilibria
https://www.readbyqxmd.com/read/27642223/densities-viscosities-and-derived-thermophysical-properties-of-water-saturated-imidazolium-based-ionic-liquids
#9
Mónia A R Martins, Catarina M S S Neves, Kiki A Kurnia, Pedro J Carvalho, Marisa A A Rocha, Luís M N B F Santos, Simão P Pinho, Mara G Freire
In order to evaluate the impact of the alkyl side chain length and symmetry of the cation on the thermophysical properties of water-saturated ionic liquids (ILs), densities and viscosities as a function of temperature were measured at atmospheric pressure and in the (298.15 to 363.15) K temperature range, for systems containing two series of bis(trifluoromethylsulfonyl)imide-based compounds: the symmetric [C n C n im][NTf2] (with n = 1-8 and 10) and asymmetric [C n C1im][NTf2] (with n = 2-5, 7, 9 and 11) ILs...
January 15, 2016: Fluid Phase Equilibria
https://www.readbyqxmd.com/read/27611104/prospective-controlled-study-of-gastroesophageal-reflux-in-dogs-with-naturally-occurring-laryngeal-paralysis
#10
Kiki M Tarvin, David C Twedt, Eric Monnet
OBJECTIVE: To determine the frequency, nature, and magnitude of gastroesophageal reflux (GER) in dogs with laryngeal paralysis (LP). STUDY DESIGN: Prospective comparative clinical study. ANIMALS: Client-owned dogs with LP and healthy client-owned dogs (n = 6 each). METHODS: Dogs underwent sedated laryngeal examination for diagnosis and grading of bilateral LP and for placement of a nasoesophageal dual pH/impedance probe...
October 2016: Veterinary Surgery: VS
https://www.readbyqxmd.com/read/27606931/redesign-of-the-system-for-evaluation-of-teaching-qualities-in-anesthesiology-residency-training-setq-smart
#11
Kiki M J M H Lombarts, Andrew Ferguson, Markus W Hollmann, Bente Malling, Onyebuchi A Arah
BACKGROUND: Given the increasing international recognition of clinical teaching as a competency and regulation of residency training, evaluation of anesthesiology faculty teaching is needed. The System for Evaluating Teaching Qualities (SETQ) Smart questionnaires were developed for assessing teaching performance of faculty in residency training programs in different countries. This study investigated (1) the structure, (2) the psychometric qualities of the new tools, and (3) the number of residents' evaluations needed per anesthesiology faculty to use the instruments reliably...
November 2016: Anesthesiology
https://www.readbyqxmd.com/read/27589038/knowledge-gaps-in-patients-with-atrial-fibrillation-revealed-by-a-new-validated-knowledge-questionnaire
#12
Lien Desteghe, Lara Engelhard, Zina Raymaekers, Kiki Kluts, Johan Vijgen, Dagmara Dilling-Boer, Pieter Koopman, Joris Schurmans, Paul Dendale, Hein Heidbuchel
OBJECTIVE: The aim of this study was to develop and validate a new questionnaire, the Jessa Atrial fibrillation Knowledge Questionnaire (JAKQ), to test the knowledge of patients with atrial fibrillation (AF) about the arrhythmia, its treatment and their ability for self-management. METHODS: The JAKQ was developed based on other questionnaires, two educational checklists and patient information support websites. The JAKQ was validated based on content validity, face validity, response process, discriminatory potential and sensitivity of the questionnaire, construct validity and reliability...
November 15, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27570929/pediatric-bipolar-disorder-combination-pharmacotherapy-adverse-effects-and-treatment-of-high-risk-youth
#13
Kiki D Chang
Treating bipolar disorder in pediatric patients is challenging because data from rigorous trials of pharmacotherapy in this population are still not plentiful enough. Furthermore, the treatment of children and adolescents is complicated by the frequent need to combine pharmacotherapies to address all bipolar symptoms as well as this population's elevated risk for experiencing side effects. Additionally, young patients with depressive episodes who are at high risk for developing bipolar disorder need careful treatment to prevent or delay the emergence of mania...
2016: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/27493268/in-vivo-imaging-of-antileukemic-drug-asparaginase-reveals-a-rapid-macrophage-mediated-clearance-from-the-bone-marrow
#14
Laurens T van der Meer, Samantha Y A Terry, Dorette van Ingen Schenau, Kiki C Andree, Gerben M Franssen, Debbie M Roeleveld, Bart M Metselaar, Thomas Reinheckel, Peter M Hoogerbrugge, Otto C Boerman, Frank N van Leeuwen
: The antileukemic drug asparaginase, a key component in the treatment of acute lymphoblastic leukemia, acts by depleting asparagine from the blood. However, little is known about its pharmacokinetics and mechanisms of therapy resistance are poorly understood. Here, we explored the in vivo biodistribution of radiolabeled asparaginase, using a combination of in vivo imaging and biochemical techniques, and provide evidence for tissue specific clearance mechanisms, which could reduce effectiveness of the drug at these specific sites...
August 4, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/27493233/experiences-of-posttraumatic-growth-in-siblings-of-children-with-cancer
#15
Anita D'Urso, Kiki Mastroyannopoulou, Angela Kirby
As survival rates continue to improve for children diagnosed with cancer, strides in achieving better psychosocial outcomes for both children with cancer and their families have been accentuated. The current study aimed to explore the experiences of siblings of children diagnosed with cancer and attempted to overcome some of the limitations described in previous research. Primarily, the study considered the theoretical framework of posttraumatic growth (PTG) in the project design and analysis. Semi-structured interviews were completed with six siblings...
August 4, 2016: Clinical Child Psychology and Psychiatry
https://www.readbyqxmd.com/read/27490433/understanding-human-immune-function-using-the-resources-from-the-human-functional-genomics-project
#16
Mihai G Netea, Leo A B Joosten, Yang Li, Vinod Kumar, Marije Oosting, Sanne Smeekens, Martin Jaeger, Rob Ter Horst, Melanie Schirmer, Hera Vlamakis, Richard Notebaart, Norman Pavelka, Raul Raul Aguirre-Gamboa, Morris A Swertz, Rahajeng N Tunjungputri, Wouter van de Heijden, Eric A Franzosa, Aylwin Ng, Daniel Graham, Kara Lassen, Kiki Schraa, Romana Netea-Maier, Jan Smit, Quirijn de Mast, Frank van de Veerdonk, Bart Jan Kullberg, Cees Tack, Inge van de Munckhof, Joost Rutten, Jacqueline van der Graaf, Lude Franke, Marten Hofker, Iris Jonkers, Mathieu Platteel, Astrid Maatman, Jingyuan Fu, Alexandra Zhernakova, Jos W M van der Meer, Charles A Dinarello, Andre van der Ven, Curtis Huttenhouwer, Hans Koenen, Irma Joosten, Ramnik J Xavier, Cisca Wijmenga
No abstract text is available yet for this article.
August 4, 2016: Nature Medicine
https://www.readbyqxmd.com/read/27482373/the-bouba-kiki-phenomenon-tested-via-schematic-drawings-of-facial-expressions-further-validation-of-the-internal-simulation-hypothesis
#17
Sethu Karthikeyan, Bianca Rammairone, Vijayachandra Ramachandra
Sound-shape associations involving consistent matching of nonsense words such as 'bouba' and 'kiki' with curved and angular shapes, respectively, have been replicated in several studies. The purpose of the current study was to examine the robustness of previously noted sound-shape associations when shape variations (angular and curvy) are embedded in schematic expressions of emotions (sad and happy). Results revealed consistent matching tendencies based on sound-emotion expression mapping irrespective of the particular shape of the expressions...
January 2016: I-Perception
https://www.readbyqxmd.com/read/27461426/long-term-safety-of-asenapine-in-pediatric-patients-diagnosed-with-bipolar-i-disorder-a-50-week-open-label-flexible-dose-trial
#18
Robert L Findling, Ronald L Landbloom, Mary Mackle, Xiao Wu, Linda Snow-Adami, Kiki Chang, Suresh Durgam
BACKGROUND: Sublingually administered asenapine was approved in March 2015 by the United States Food and Drug Administration for patients aged 10-17 years with an acute manic or mixed episode associated with bipolar I disorder (BP-1). This is the first long-term safety and tolerability study of asenapine in this population. METHODS: Following the 3-week randomized, double-blind, placebo-controlled trial of patients aged 10-17 years with an acute manic or mixed episode associated with BP-1, patients could enroll in this flexible-dose (2...
October 2016: Paediatric Drugs
https://www.readbyqxmd.com/read/27376580/the-cost-of-residency-training-in-teaching-health-centers
#19
Marsha Regenstein, Kiki Nocella, Mariellen Malloy Jewers, Fitzhugh Mullan
Policymakers have long been concerned about the adequacy of the U.S. primary care workforce, especially in rural and low-income areas. In an effort to respond to increased demand for primary care services from new private health insurance markets and Medicaid coverage expansions under the..
August 18, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27311294/when-sandpaper-is-kiki-and-satin-is-bouba-an-exploration-of-the-associations-between-words-emotional-states-and-the-tactile-attributes-of-everyday-materials
#20
Roberta Etzi, Charles Spence, Massimiliano Zampini, Alberto Gallace
Over the last decade, scientists working on the topic of multisensory integration, as well as designers and marketers involved in trying to understand consumer behavior, have become increasingly interested in the non-arbitrary associations (e.g., sound symbolism) between different sensorial attributes of the stimuli they work with. Nevertheless, to date, little research in this area has investigated the presence of these crossmodal correspondences in the tactile evaluation of everyday materials. Here, we explore the presence and nature of the associations between tactile sensations, the sound of non-words, and people's emotional states...
2016: Multisensory Research
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