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https://www.readbyqxmd.com/read/28424650/the-role-of-the-left-anterior-temporal-lobe-for-unpredictable-and-complex-mappings-in-word-reading
#1
Marilyne Joyal, Simona M Brambati, Robert J Laforce, Maxime Montembeault, Mariem Boukadi, Isabelle Rouleau, Joël Macoir, Sven Joubert, Shirley Fecteau, Maximiliano A Wilson
The anterior temporal lobes (ATLs) have been consistently associated with semantic processing which, in turn, has a key role in reading aloud single words. This study aimed to investigate (1) the reading abilities in patients with the semantic variant of primary progressive aphasia (svPPA), and (2) the relationship between gray matter (GM) volume of the left ATL and word reading performance using voxel-based morphometry (VBM). Three groups of participants (svPPA, Alzheimer's Disease, AD and healthy elderly adults) performed a reading task with exception words, regular words and pseudowords, along with a structural magnetic resonance imaging scan...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28417179/analysis-of-honeybush-tea-cyclopia-spp-volatiles-by-comprehensive-two-dimensional-gas-chromatography-using-a-single-stage-thermal-modulator
#2
Gaalebalwe Ntlhokwe, Andreas G J Tredoux, Tadeusz Górecki, Matthew Edwards, Jochen Vestner, Magdalena Muller, Lené Erasmus, Elizabeth Joubert, J Christel Cronje, André de Villiers
The applicability of comprehensive two-dimensional gas chromatography (GC×GC) using a single-stage thermal modulator was explored for the analysis of honeybush tea (Cyclopia spp.) volatile compounds. Headspace solid phase micro-extraction (HS-SPME) was used in combination with GC×GC separation on a non-polar × polar column set with flame ionisation (FID) detection for the analysis of fermented Cyclopia maculata, Cyclopia subternata and Cyclopia genistoides tea infusions of a single harvest season. Method optimisation entailed evaluation of the effects of several experimental parameters on the performance of the modulator, the choice of columns in both dimensions, as well as the HS-SPME extraction fibre...
April 17, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28410401/ripk3-interacts-with-mavs-to-regulate-type-i-ifn-mediated-immunity-to-influenza-a-virus-infection
#3
Jeffrey Downey, Erwan Pernet, François Coulombe, Benoit Allard, Isabelle Meunier, Joanna Jaworska, Salman Qureshi, Donald C Vinh, James G Martin, Philippe Joubert, Maziar Divangahi
The type I interferon pathway plays a critical role in both host defense and tolerance against viral infection and thus requires refined regulatory mechanisms. RIPK3-mediated necroptosis has been shown to be involved in anti-viral immunity. However, the exact role of RIPK3 in immunity to Influenza A Virus (IAV) is poorly understood. In line with others, we, herein, show that Ripk3-/- mice are highly susceptible to IAV infection, exhibiting elevated pulmonary viral load and heightened morbidity and mortality...
April 14, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28410397/a-bis-sulphamoylated-estradiol-derivative-induces-ros-dependent-cell-cycle-abnormalities-and-subsequent-apoptosis
#4
Michelle Helen Visagie, Iman van den Bout, Anna Margaretha Joubert
Clinical trials have revealed that the potential anticancer agent, 2-methoxyestradiol (2ME2) has limitations due to its low bioavailability. Subsequently, 2ME2 derivatives including (8R,13S,14S,17S)-2-ethyl-13-methyl-7,8,9,11,12,13,14,15,16,17-decahydro-6H-cyclopenta[a]phenanthrane-3,17-diyl bis(sulphamate) (EMBS) have shown improved efficacies in inducing apoptosis. However, no conclusive data exist to explain the mode of action exerted by these drugs. This study investigated the mode of action used by EMBS as a representative of the sulphamoylated 2ME2 derivatives...
2017: PloS One
https://www.readbyqxmd.com/read/28402911/hassab-s-operation-for-joubert-syndrome-with-congenital-hepatic-fibrosis-a-case-report
#5
Koji Miyazawa, Yasuyuki Hara, Kenji Shimizu, Wataru Nakanishi, Kazuaki Tokodai, Chikashi Nakanishi, Shigehito Miyagi, Naoki Kawagishi, Noriaki Ohuchi
INTRODUCTION: Joubert syndrome is characterized by psychomotor developmental delay, hypotonia, oculomotor abnormalities, occasional retinal dystrophy and cystic kidneys, and frequent and often, striking breathing abnormalities, especially in the neonatal period, with panting tachypnea followed by apnea. We report a case of Joubert syndrome with hepatic fibrosis, portal hypertension, and pancytopenia treated by Hassab's operation. PRESENTATION OF CASE: Our patient was a 27-year-old woman with a history of tachypnea, muscle hypotonia, and psychomotor retardation shortly after birth and a diagnosis of Joubert syndrome at 2 years of age...
March 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28398936/endogenous-glucocorticoid-response-to-single-dose-dexamethasone-for-croup-in-children-a-pharmacodynamic-study
#6
Natasha Gill, Natalie Sirizzotti, David Johnson, Gary Joubert, Andrew S Kucey, Alvin Tieu, Brad L Urquhart, Melanie Columbus, Rodrick Lim, Michael Rieder, Shruti Mehrotra, Emily D Hartjes, Naveen Poonai
OBJECTIVES: Dexamethasone is associated with adrenal insufficiency in adults and children with chronic disease. This association has not been studied after single-dose oral dexamethasone, the standard of care for children with croup. We hypothesized that single-dose oral dexamethasone in children with croup is associated with a transient decrease in endogenous glucocorticoids. METHODS: We conducted a prospective, 2-arm, pharmacodynamic study of single-dose oral dexamethasone 0...
April 11, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28397510/a-profile-of-perceived-stress-factors-among-nursing-staff-working-with-intellectually-disabled-in-patients-at-the-free-state-psychiatric-complex-south-africa
#7
Maria Conradie, Danelle Erwee, Isabel Serfontein, Maré Visser, Frikkie J W Calitz, Gina Joubert
INTRODUCTION: Nursing staff working with intellectually disabled in-patients experience unique stress factors that can influence their personal well-being and work performance. OBJECTIVES: To compile a profile of stress factors experienced by nursing staff working with intellectually disabled in-patients at the Free State Psychiatric Complex (FSPC). METHODS: This descriptive study included 89 nursing staff members from this environment. A questionnaire was used to collect socio-demographic information and determine personal and occupational stressors...
March 16, 2017: Curationis
https://www.readbyqxmd.com/read/28397329/minimising-variation-in-aspalathin-content-of-aqueous-green-rooibos-extract-optimising-extraction-and-identifying-critical-material-attributes
#8
Neil Miller, Dalene De Beer, Elizabeth Joubert
BACKGROUND: High levels of aspalathin, an antidiabetic dihydrochalcone, in green rooibos underpins interest in the production of a standardised extract. Elements of a quality-by-design approach was applied to optimise extract conditions, aiming at delivering a dry matter yield (DMY) ≥ 160 g kg(-1) and an extract with an aspalathin content (AC) ≥ 80 g kg(-1) . RESULTS: Hot water extraction parameters, namely extraction time, extraction temperature and water-to-plant material ratio, was optimised for DMY and aspalathin extraction efficiency (AEE) using Design of Experiments...
April 11, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28391287/identification-of-2-potentially-relevant-gene-mutations-involved-in-strabismus-using-whole-exome-sequencing
#9
Xiangrong Min, Haiying Fan, Guiqiu Zhao, Guixiang Liu
BACKGROUND The etiology of strabismus has a genetic component. Our study aimed to localize the candidate causative gene mutant in a Chinese family with strabismus and to describe its underlying etiology. MATERIAL AND METHODS Genomic DNA was extracted from the affected individual and his parents in a Chinese pedigree with strabismus. The resulting exomes were sequenced by whole-exome sequencing. After variant calling and filtering, the candidate causative gene mutations were selected for the rarity and predicted damaging effect, which complied with the model of recessive disease transmission...
April 9, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28385301/marshall-m-parks-memorial-lecture-ocular-motor-misbehavior-in-children-where-neuro-ophthalmology-meets-strabismus
#10
REVIEW
Michael C Brodsky
Clinical diagnosis has been supplemented by neuroimaging advances, genetic discoveries, and molecular research to generate new neurobiological discoveries pertaining to early maldevelopment of ocular motor control systems. In this focused review, I examine recent paradigm shifts that have transformed our understanding of pediatric ocular motor disease at the prenuclear and infranuclear levels. The pathogenesis of complex ocular motor disorders, such as paradoxical pupillary constriction to darkness, benign tonic upgaze of infancy, congenital fibrosis syndrome, and the constellation of unique eye movements that accompany Joubert syndrome, are elucidated...
April 3, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28378584/palladium-catalyzed-synthesis-of-3-trifluoromethyl-substituted-1-3-butadienes-by-means-of-directed-c-h-bond-functionalization
#11
Qun Zhao, Vincent Tognetti, Laurent Joubert, Tatiana Besset, Xavier Pannecoucke, Jean-Philippe Bouillon, Thomas Poisson
A palladium-catalyzed C-H bond functionalization of acrylamides was developed to build up stereoselectively trifluoromethylated 1,3-butadienes. Using a tertiary amide as a directing group, olefins were selectively functionalized with 2-bromo-3,3,3-trifluoropropene to access these important fluorinated compounds. The methodology was extended to the construction of pentafluoroethyl-substituted 1,3-dienes. Mechanistic studies supported by density functional theory calculations suggested a redox neutral mechanism for this transformation...
April 5, 2017: Organic Letters
https://www.readbyqxmd.com/read/28378361/misoprostol-use-for-second-trimester-termination-of-pregnancy-among-women-with-one-or-more-previous-cesarean-deliveries
#12
Martin Cuellar Torriente, Wilhelm J Steinberg, Gina Joubert
OBJECTIVE: To establish the safety and efficacy of misoprostol for second-trimester termination of pregnancy among women with one or more previous cesarean deliveries. METHODS: In a retrospective study, data were reviewed from women attending a reproductive health clinic in Bloemfontein, South Africa, for second-trimester termination between 2010 and 2013. The study group, comprising women with one or more previous cesareans, was compared with a control group, comprising women with no previous cesarean or uterine scarring...
April 4, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28375623/quantum-nonadiabatic-cloning-of-entangled-coherent-states
#13
Artur F Izmaylov, Loïc Joubert-Doriol
We propose a systematic approach to the basis set extension for nonadiabatic dynamics of entangled combination of nuclear coherent states (CSs) evolving according to the time-dependent variational principle (TDVP). The TDVP provides a rigorous framework for fully quantum nonadiabatic dynamics of closed systems; however, the quality of results strongly depends on available basis functions. Starting with a single nuclear CS replicated vertically on all electronic states, our approach clones this function when replicas of the CS on different electronic states experience increasingly different forces...
April 20, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28371402/mortality-in-joubert-syndrome
#14
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, Ian A Glass, Hannah M Tully, Dan Doherty
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and improve the lives of patients with JS. We evaluated information on 40 deceased individuals with JS to characterize age and cause of death. We compared this population with 525 living individuals with JS to estimate associations between risk of death and extra-neurological features...
March 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28370817/behavioral-and-neuroanatomical-analyses-in-a-genetic-mouse-model-of-2q13-duplication
#15
Keiko Kishimoto, Jun Nomura, Jacob Ellegood, Keita Fukumoto, Jason P Lerch, Daniel Moreno-De-Luca, Thomas Bourgeron, Kota Tamada, Toru Takumi
Duplications of human chromosome 2q13 have been reported in patients with neurodevelopmental disorder including autism spectrum disorder. Nephronophthisis-1 (NPHP1) was identified as a causative gene in the minimal deletion on chromosome 2q13 for familial juvenile type 1 nephronophthisis and Joubert syndrome, an autosomal recessive neurodevelopmental disorder characterized by a cerebellar and brain stem malformation, hypotonia, developmental delay, ataxia, and sometimes associated with cognitive impairment...
March 29, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28362264/small-magnitude-effect-sizes-in-epigenetic-end-points-are-important-in-children-s-environmental-health-studies-the-children-s-environmental-health-and-disease-prevention-research-center-s-epigenetics-working-group
#16
Carrie V Breton, Carmen J Marsit, Elaine Faustman, Kari Nadeau, Jaclyn M Goodrich, Dana C Dolinoy, Julie Herbstman, Nina Holland, Janine M LaSalle, Rebecca Schmidt, Paul Yousefi, Frederica Perera, Bonnie R Joubert, Joseph Wiemels, Michele Taylor, Ivana V Yang, Rui Chen, Kinjal M Hew, Deborah M Hussey Freeland, Rachel Miller, Susan K Murphy
BACKGROUND: Characterization of the epigenome is a primary interest for children's environmental health researchers studying the environmental influences on human populations, particularly those studying the role of pregnancy and early-life exposures on later-in-life health outcomes. OBJECTIVES: Our objective was to consider the state of the science in environmental epigenetics research and to focus on DNA methylation and the collective observations of many studies being conducted within the Children's Environmental Health and Disease Prevention Research Centers, as they relate to the Developmental Origins of Health and Disease (DOHaD) hypothesis...
April 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28358310/intestinal-transport-characteristics-and-metabolism-of-c-glucosyl-dihydrochalcone-aspalathin
#17
Sandra Bowles, Elizabeth Joubert, Dalene de Beer, Johan Louw, Christel Brunschwig, Mathew Njoroge, Nina Lawrence, Lubbe Wiesner, Kelly Chibale, Christo Muller
Insight into the mechanisms of intestinal transport and metabolism of aspalathin will provide important information for dose optimisation, in particular for studies using mouse models. Aspalathin transportation across the intestinal barrier (Caco-2 monolayer) tested at 1-150 µM had an apparent rate of permeability (Papp) typical of poorly absorbed compounds (1.73 × 10(-6) cm/s). Major glucose transporters, sodium glucose linked transporter 1 (SGLT1) and glucose transporter 2 (GLUT2), and efflux protein (P-glycoprotein, PgP) (1...
March 30, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28348550/an-in-vitro-study-of-bio-control-and-plant-growth-promotion-potential-of-salicaceae-endophytes
#18
Shyam L Kandel, Andrea Firrincieli, Pierre M Joubert, Patricia A Okubara, Natalie D Leston, Kendra M McGeorge, Giuseppe S Mugnozza, Antoine Harfouche, Soo-Hyung Kim, Sharon L Doty
Microbial communities in the endosphere of Salicaceae plants, poplar (Populus trichocarpa) and willow (Salix sitchensis), have been demonstrated to be important for plant growth promotion, protection from biotic and abiotic stresses, and degradation of toxic compounds. Our study aimed to investigate bio-control activities of Salicaceae endophytes against various soil borne plant pathogens including Rhizoctonia solani AG-8, Fusarium culmorum, Gaeumannomyces graminis var. tritici, and Pythium ultimum. Additionally, different plant growth promoting traits such as biological nitrogen fixation (BNF), indole-3-acetic acid (IAA) biosynthesis, phosphate solubilization, and siderophore production were assessed in all bio-control positive strains...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28347285/whole-exome-sequencing-and-digital-pcr-identified-a-novel-compound-heterozygous-mutation-in-the-nphp1-gene-in-a-case-of-joubert-syndrome-and-related-disorders
#19
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato
BACKGROUND: Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign. JSRD is classified into six clinical subtypes based on associated variable multiorgan involvement. To date, 21 causative genes have been identified in JSRD, which makes genetic diagnosis difficult. CASE PRESENTATION: We report here a case of a 28-year-old Japanese woman diagnosed with JS with oculorenal defects with a novel compound heterozygous mutation (p...
March 27, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28344780/abnormal-glycosylation-in-joubert-syndrome-type-10
#20
Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Diana R O'Day, Jennifer C Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A Hanover, Dan Doherty, Miao He, May Christine V Malicdan, William A Gahl, Cornelius F Boerkoel
BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome. METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband...
2017: Cilia
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