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https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#1
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138472/functional-characterization-of-the-ucp1-associated-oxidative-phenotype-of-human-epicardial-adipose-tissue
#2
Kanta Chechi, Pierre Voisine, Patrick Mathieu, Mathieu Laplante, Sébastian Bonnet, Frédéric Picard, Philippe Joubert, Denis Richard
Brown fat presence and metabolic activity has been associated with lower body mass index, higher insulin sensitivity and better cardiometabolic profile in humans. We, and others, have previously reported the presence of Ucp1, a marker of brown adipocytes, in human epicardial adipose tissue (eAT). Characterization of the metabolic activity and associated physiological relevance of Ucp1 within eAT, however, is still awaited. Here, we validate the presence of Ucp1 within human eAT and its 'beige' nature. Using in-vitro analytical approaches, we further characterize its thermogenic potential and demonstrate that human eAT is capable of undergoing enhanced uncoupling respiration upon stimulation...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138412/novel-kiaa0753-mutations-extend-the-phenotype-of-skeletal-ciliopathies
#3
A Hammarsjö, Z Wang, R Vaz, F Taylan, M Sedghi, K M Girisha, D Chitayat, K Neethukrishna, P Shannon, R Godoy, K Gowrishankar, A Lindstrand, J Nasiri, M Baktashian, P T Newton, L Guo, W Hofmeister, M Pettersson, A S Chagin, G Nishimura, L Yan, N Matsumoto, A Nordgren, N Miyake, G Grigelioniene, S Ikegawa
The skeletal ciliopathies are a heterogeneous group of disorders with a significant clinical and genetic variability and the main clinical features are thoracic hypoplasia and short tubular bones. To date, 25 genes have been identified in association with skeletal ciliopathies. Mutations in the KIAA0753 gene have recently been associated with Joubert syndrome (JBTS) and orofaciodigital (OFD) syndrome. We report biallelic pathogenic variants in KIAA0753 in four patients with short-rib type skeletal dysplasia...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29136352/cover-image-volume-173a-number-12-december-2017
#4
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
The cover image, by Isabel Hardee et al., is based on the Clinical Report Defective ciliogenesis in INPP5E-related Joubert syndrome, DOI: 10.1002/ajmg.a.38376. Design Credit: Darryl Leja.
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29118670/an-overview-of-the-role-of-platelets-in-angiogenesis-apoptosis-and-autophagy-in-chronic-myeloid-leukaemia
#5
REVIEW
Lisa Repsold, Roger Pool, Mohammed Karodia, Gregory Tintinger, Annie Margaretha Joubert
Amongst males, leukaemia is the most common cause of cancer-related death in individuals younger than 40 years of age whereas in female children and adolescents, leukaemia is the most common cause of cancer-related death. Chronic myeloid leukaemia (CML) is a chronic leukaemia of the haematopoietic stem cells affecting mostly adults. The disease results from a translocation of the Philadelphia chromosome in stem cells of the bone marrow. CML patients usually present with mild to moderate anaemia and with decreased, normal, or increased platelet counts...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/29113036/in-class-cycling-to-augment-college-student-academic-performance-and-reduce-physical-inactivity-results-from-an-rct
#6
Lanae Joubert, Matthew Kilgas, Alexandrea Riley, Yuba Gautam, Lars Donath, Scott Drum
Most college students sit 14 hours per week on average, excluding sedentary study time. Researchers observing workplace and elementary school settings with active workstations to combat sedentary behavior have shown enhanced cognition without distraction. Until now, incorporating active workstations in college classroom settings remained relatively unexplored. This study's purpose was to assess academic performance using in-class stationary cycle desks during a semester-long lecture course. Twenty-one college students (19-24 years) enrolled in a lecture course volunteered and were split into traditional sit (SIT) and stationary cycle (CYC) groups randomly, matched on a calculated factor equal to a physical activity (PA) score (0-680) multiplied by grade point average (GPA; 4...
November 4, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29112698/tabpath-interactive-tables-for-metabolic-pathway-analysis
#7
Lauro Ângelo Gonçalves de Moraes, Érica Barbosa Felestrino, Renata de Almeida Barbosa Assis, Diogo Matos, Joubert de Castro Lima, Leandro de Araújo Lima, Nalvo Franco Almeida, João Carlos Setubal, Camila Carrião Machado Garcia, Leandro Marcio Moreira
Motivation: Information about metabolic pathways in a comparative context is one of the most powerful tool to help the understanding of genome-based differences in phenotypes among organisms. Although several platforms exist that provide a wealth of information on metabolic pathways of diverse organisms, the comparison among organisms using metabolic pathways is still a difficult task. Results: We present TabPath (Tables for Metabolic Pathway), a web-based tool to facilitate comparison of metabolic pathways in genomes based on KEGG...
November 3, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29112083/characteristics-of-liver-disease-in-100-individuals-with-joubert-syndrome-prospectively-evaluated-at-a-single-center
#8
Anna Strongin, Theo Heller, Dan Doherty, Ian A Glass, Melissa A Parisi, Joy Bryant, Peter Choyke, Baris Turkbey, Kailash Daryanani, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, May C Malicdan, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND & AIMS: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes the hepatic findings in JS and identifies factors associated with probable portal hypertension. METHODS: 100 individuals with JS were prospectively evaluated at the National Institutes of Health Clinical Center. Laboratory tests, imaging, and DNA sequencing were performed...
November 3, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29110285/chemical-and-biophysical-characteristics-of-monoclonal-antibody-solutions-containing-aggregates-formed-during-metal-catalyzed-oxidation
#9
Linda O Narhi, Quanzhou Luo, Jette Wypych, Riccardo Torosantucci, Andrea Hawe, Kiyoshi Fujimori, Yasser Nashed-Samuel, Vibha Jawa, Marisa K Joubert, Wim Jiskoot
PURPOSE: To physicochemically characterize and compare monoclonal antibody (mAb) solutions containing aggregates generated via metal catalyzed oxidation (MCO). METHODS: Two monoclonal IgG2s (mAb1 and mAb2) and one monoclonal IgG1 (rituximab) were exposed to MCO with the copper/ascorbic acid oxidative system, by using several different methods. The products obtained were characterized by complementary techniques for aggregate and particle analysis (from oligomers to micron sized species), and mass spectrometry methods to determine the residual copper content and chemical modifications of the proteins...
November 6, 2017: Pharmaceutical Research
https://www.readbyqxmd.com/read/29103358/1967-reflections-on-the-first-human-heart-transplant-and-its-impact-on-medicine-media-and-society
#10
Marina Joubert
No abstract text is available yet for this article.
November 1, 2017: Public Understanding of Science
https://www.readbyqxmd.com/read/29102955/development-and-psychometric-validation-of-a-patient-reported-outcome-measure-to-assess-fears-in-rheumatoid-arthritis-and-axial-spondyloarthritis-the-fear-assessment-in-inflammatory-rheumatic-diseases-fair-questionnaire
#11
Laure Gossec, Pierre Chauvin, Alain Saraux, Christophe Hudry, Gabrielle Cukierman, Thibault de Chalus, Caroline Dreuillet, Vincent Saulot, Sabine Tong, Françoise Russo-Marie, Jean-Michel Joubert, Francis Berenbaum
OBJECTIVES: To develop and validate an outcome measure for assessing fears in patients with rheumatoid arthritis (RA) and axial spondyloarthritis (axSpA). METHODS: Fears were identified in a qualitative study, and reformulated as assertions with which participants could rate their agreement (on a 0-10 numeric rating scale). A cross-sectional validation study was performed including patients diagnosed with RA or axSpA. Redundant items (correlation >0.65) were excluded...
November 4, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/29102110/fetopathic-effects-of-experimental-schmallenberg-virus-infection-in-pregnant-goats
#12
Eve Laloy, Emmanuel Bréard, Sascha Trapp, Nathalie Pozzi, Mickaël Riou, Céline Barc, Sylvain Breton, Rémi Delaunay, Nathalie Cordonnier, Sophie Chateau-Joubert, Didier Crochet, Julie Gouzil, Typhaine Hébert, Maxime Raimbourg, Cyril Viarouge, Damien Vitour, Benoît Durand, Claire Ponsart, Stéphan Zientara
Schmallenberg virus (SBV) is an emerging virus responsible for congenital malformations in the offspring of domestic ruminants. It is speculated that infection of pregnant dams may also lead to a significant number of unrecognized fetal losses during the early period of gestation. To assess the pathogenic effects of SBV infection of goats in early pregnancy, we inoculated dams at day 28 or 42 of gestation and followed the animals until day 55 of gestation. Viremia in the absence of clinical signs was detected in all virus-inoculated goats...
November 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/29096404/cyclopia-extracts-enhance-th1-th2-and-th17-type-t-cell-responses-and-induce-foxp3-cells-in-murine-cell-culture
#13
Shiho Murakami, Yutaka Miura, Makoto Hattori, Hiroshi Matsuda, Christiaan J Malherbe, Christo J F Muller, Elizabeth Joubert, Tadashi Yoshida
Cyclopia genistoides, one of the traditional South African medicinal plants, and other species of the same genus offer noteworthy phenolic profiles, in particular high levels of the anti-allergic xanthone mangiferin. Hot water and 40% ethanol-water (v/v) extracts, prepared from C. genistoides, Cyclopia subternata, and Cyclopia maculata, were tested for immune-regulating activity in vitro using murine splenocytes and mesenteric lymph node cells. The 40% ethanol-water extracts of C. genistoides and C. subternata significantly enhanced production of several types of cytokines, including IL-4, IL-17, and IFN-γ, by antigen-stimulated splenocytes...
November 2, 2017: Planta Medica
https://www.readbyqxmd.com/read/29089384/the-guanine-nucleotide-exchange-factor-arf-like-protein-13b-is-essential-for-assembly-of-the-mouse-photoreceptor-transition-zone-and-outer-segment
#14
Christin Hanke-Gogokhia, Zhijian Wu, Ali Sharif, Hussein Yazigi, Jeanne M Frederick, Wolfgang Baehr
ARL13b is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP. ARL13b is located exclusively in photoreceptor outer segments (OS) presumably anchored to discs by palmitoylation, whereas ARL3 is an inner segment cytoplasmic protein. Hypomorphic mutations affecting the ARL13b G‑domain inactivate GEF activity and lead to Joubert Syndrome (JS) in human. However, the molecular mechanisms in ARL13b mutation-induced JS, particularly the function of primary cilia, are still incompletely understood...
October 31, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29080292/formation-of-polymeric-nanocubes-by-self-assembly-and-crystallization-of-dithiolane-containing-triblock-copolymers
#15
Katherine Margulis, Xiangyi Zhang, Lydia-Marie Joubert, Karsten Bruening, Christopher John Tassone, Richard Neil Zare, Robert M Waymouth
Template-free fabrication of non-spherical polymeric nanoparticles is desirable for various applications, but has had limited success owing to thermodynamic favorability of sphere formation. Herein we present a simple way to prepare cubic nanoparticles of block copolymers by self-assembly from aqueous solutions at room temperature. Nanocubes with edges of 40 - 200 nm are formed spontaneously on different surfaces upon water evaporation from micellar solutions of triblock copolymers containing a central poly (ethylene oxide) block and terminal trimethylene carbonate/ dithiolane blocks...
October 27, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/29075892/predicting-in-vivo-effect-levels-for-repeat-dose-systemic-toxicity-using-chemical-biological-kinetic-and-study-covariates
#16
Lisa Truong, Gladys Ouedraogo, LyLy Pham, Jacques Clouzeau, Sophie Loisel-Joubert, Delphine Blanchet, Hicham Noçairi, Woodrow Setzer, Richard Judson, Chris Grulke, Kamel Mansouri, Matthew Martin
In an effort to address a major challenge in chemical safety assessment, alternative approaches for characterizing systemic effect levels, a predictive model was developed. Systemic effect levels were curated from ToxRefDB, HESS-DB and COSMOS-DB from numerous study types totaling 4379 in vivo studies for 1247 chemicals. Observed systemic effects in mammalian models are a complex function of chemical dynamics, kinetics, and inter- and intra-individual variability. To address this complex problem, systemic effect levels were modeled at the study-level by leveraging study covariates (e...
October 27, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/29074771/atomic-structure-of-sensitive-battery-materials-and-interfaces-revealed-by-cryo-electron-microscopy
#17
Yuzhang Li, Yanbin Li, Allen Pei, Kai Yan, Yongming Sun, Chun-Lan Wu, Lydia-Marie Joubert, Richard Chin, Ai Leen Koh, Yi Yu, John Perrino, Benjamin Butz, Steven Chu, Yi Cui
Whereas standard transmission electron microscopy studies are unable to preserve the native state of chemically reactive and beam-sensitive battery materials after operation, such materials remain pristine at cryogenic conditions. It is then possible to atomically resolve individual lithium metal atoms and their interface with the solid electrolyte interphase (SEI). We observe that dendrites in carbonate-based electrolytes grow along the <111> (preferred), <110>, or <211> directions as faceted, single-crystalline nanowires...
October 27, 2017: Science
https://www.readbyqxmd.com/read/29073046/nonequilibrium-fluctuations-of-lipid-membranes-by-the-rotating-motor-protein-f1f0-atp-synthase
#18
Víctor G Almendro-Vedia, Paolo Natale, Michael Mell, Stephanie Bonneau, Francisco Monroy, Frederic Joubert, Iván López-Montero
ATP synthase is a rotating membrane protein that synthesizes ATP through proton-pumping activity across the membrane. To unveil the mechanical impact of this molecular active pump on the bending properties of its lipid environment, we have functionally reconstituted the ATP synthase in giant unilamellar vesicles and tracked the membrane fluctuations by means of flickering spectroscopy. We find that ATP synthase rotates at a frequency of about 20 Hz, promoting large nonequilibrium deformations at discrete hot spots in lipid vesicles and thus inducing an overall membrane softening...
October 24, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29063497/coping-and-adjustment-in-men-with-prostate-cancer-a-systematic-review-of-qualitative-studies
#19
REVIEW
Jason S Spendelow, H Eli Joubert, Haymond Lee, Bryony R Fairhurst
PURPOSE: Prostate cancer (PCa) is one of the most common forms of cancer amongst males. Men's coping responses are an important determinant of functioning and adjustment to this disease. Previous qualitative research exists in this area, but the current review sought to systematically review and summarise these studies. METHODS: A systematic review was conducted to identify studies concerned with men's coping strategies in their attempts to live with PCa. A search of relevant electronic databases was conducted to identify studies that met inclusion criteria for this review...
October 23, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/29062909/congenital-hepatic-fibrosis-in-a-9-year-old-female-patient-a-case-report
#20
Kamil Janowski, Maria Goliszek, Joanna Cielecka-Kuszyk, Irena Jankowska, Joanna Pawłowska
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes...
September 2017: Clin Exp Hepatol
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