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Joubert's

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https://www.readbyqxmd.com/read/29783827/-joubert-syndrome-in-a-child-with-nephronophthisis
#1
Y H Li, X S Shao, X H Jiang
No abstract text is available yet for this article.
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29781686/the-prevalence-of-neonatal-jaundice-and-risk-factors-in-healthy-term-neonates-at-national-district-hospital-in-bloemfontein
#2
Hanneke Brits, Jeanie Adendorff, Dyanti Huisamen, Dahne Beukes, Kristian Botha, Hanre Herbst, Gina Joubert
BACKGROUND:  Neonatal jaundice affects one in two infants globally. The jaundice is the result of an accumulation of bilirubin as foetal haemoglobin is metabolised by the immature liver. High serum levels of bilirubin result in lethargy, poor feeding and kernicterus of the infant. AIM:  The main aim of this article was to determine the prevalence of neonatal jaundice and secondly to explore its risk factors in healthy term neonates. SETTING:  Maternity ward, National District Hospital, Bloemfontein, South Africa...
April 12, 2018: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/29781620/nonadiabatic-quantum-dynamics-with-frozen-width-gaussians
#3
Loic Joubert-Doriol, Artur F Izmaylov
We review techniques for simulating fully quantum nonadiabatic dynamics using the frozen-width moving Gaussian basis functions to represent the nuclear wavefunction. A choice of these basis functions is primarily motivated by the idea of the on-the-fly dynamics that will involve electronic structure calculations done locally in the vicinity of each Gaussian center and thus avoiding "curse of dimensionality'' appearing in large systems. For quantum dynamics involving multiple electronic states there are several aspects that need to be addressed...
May 21, 2018: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29769509/joubert-s-syndrome-a-report-of-two-cases
#4
M M Rahman, S M Rahman
Joubert's syndrome and related disorders are primarily disorder of cerebellar development. It has heterogeneity of presentation that varies from patient to patient. In the recent past we encountered a pair of children who presented with developmental delay, hypotonia and abnormal eye movements. Classic Joubert's syndrome was confirmed on the basis of clinical and neuro-imaging findings. So careful clinical assessment and appropriate neuro-imaging should be done in suspected cases for confirmation of diagnosis...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29767684/ultrasensitive-hiv-1-viral-load-as-a-marker-of-treatment-choice-for-simplification-strategies
#5
Sidonie Lambert-Niclot, Maxime Grude, Jean-Luc Meynard, Anne-Geneviève Marcelin, Marc-Antoine Valantin, Philippe Flandre, Jacques Izopet, Laetitia Moinot, Vincent Bouteloup, Vincent Calvez, Christine Katlama, Pierre-Marie Girard, Laurence Morand-Joubert
Background: We pooled the results of three randomized trials that compared the efficacy of PI/r monotherapy and standard triple therapy as maintenance therapy and evaluated: 1) the distribution of ultrasensitive viral load (USVL) at week 96 (W96), 2) factors associated with virological success (VL<50 copy/mL) at W96, and 3) factors associated with USVL<1 copy/ml (c/ml) at W96. Methods: Virological failure was defined as two consecutive measurements of HIV-1 RNA viral load >50 copies/mL and was analyzed in intention-to-treat...
May 15, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29760743/crosstalk-between-the-warburg-effect-redox-regulation-and-autophagy-induction-in-tumourigenesis
#6
REVIEW
Mokgadi Violet Gwangwa, Anna Margaretha Joubert, Michelle Helen Visagie
Tumourigenic tissue uses modified metabolic signalling pathways in order to support hyperproliferation and survival. Cancer-associated aerobic glycolysis resulting in lactic acid production was described nearly 100 years ago. Furthermore, increased reactive oxygen species (ROS) and lactate quantities increase metabolic, survival and proliferation signalling, resulting in increased tumourigenesis. In order to maintain redox balance, the cell possesses innate antioxidant defence systems such as superoxide dismutase, catalase and glutathione...
2018: Cellular & Molecular Biology Letters
https://www.readbyqxmd.com/read/29752301/mitochondrial-cyclophilin-d-regulates-t-cell-metabolic-responses-and-disease-tolerance-to-tuberculosis
#7
Fanny Tzelepis, Julianna Blagih, Nargis Khan, Joshua Gillard, Laura Mendonca, Dominic G Roy, Eric H Ma, Philippe Joubert, Russell G Jones, Maziar Divangahi
Mycobacterium tuberculosis ( Mtb ) is one of the most ancient human pathogens, yet the exact mechanism(s) of host defense against Mtb remains unclear. Although one-third of the world's population is chronically infected with Mtb , only 5 to 10% develop active disease. This indicates that, in addition to resistance mechanisms that control bacterial burden, the host has also evolved strategies to tolerate the presence of Mtb to limit disease severity. We identify mitochondrial cyclophilin D (CypD) as a critical checkpoint of T cell metabolism that controls the expansion of activated T cells...
May 11, 2018: Science Immunology
https://www.readbyqxmd.com/read/29751519/targeting-the-polyadenylation-signal-of-pre-mrna-a-new-gene-silencing-approach-for-facioscapulohumeral-dystrophy
#8
REVIEW
Anne-Charlotte Marsollier, Romain Joubert, Virginie Mariot, Julie Dumonceaux
Facioscapulohumeral dystrophy (FSHD) is characterized by the contraction of the D4Z4 array located in the sub-telomeric region of the chromosome 4, leading to the aberrant expression of the DUX4 transcription factor and the mis-regulation of hundreds of genes. Several therapeutic strategies have been proposed among which the possibility to target the polyadenylation signal to silence the causative gene of the disease. Indeed, defects in mRNA polyadenylation leads to an alteration of the transcription termination, a disruption of mRNA transport from the nucleus to the cytoplasm decreasing the mRNA stability and translation efficiency...
May 3, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29742962/normative-data-for-the-clock-drawing-test-for-french-quebec-mid-and-older-aged-healthy-adults
#9
Valérie Turcotte, Marie-Eve Gagnon, Sven Joubert, Isabelle Rouleau, Jean-François Gagnon, Frédérique Escudier, Lisa Koski, Olivier Potvin, Joël Macoir, Carol Hudon
OBJECTIVE: The Clock Drawing Test (CDT) is frequently used to screen for cognitive impairment, however, normative data for Rouleau et al.'s scoring system are scarce. The present study aims to provide norms for Rouleau et al.'s scoring system that are tailored to Quebec French-speaking mid- and older aged healthy adults. METHODS: Six researchers from various research centers across the Province of Quebec (Canada) sent anonymous data for 593 (391 women) healthy community-dwelling volunteers (age range: 43-93 years; education range: 5-23 years) who completed the CDT 'drawing on command' version...
May 9, 2018: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/29742152/characterization-of-snf472-pharmacokinetics-and-efficacy-in-uremic-and-non-uremic-rats-models-of-cardiovascular-calcification
#10
Miguel D Ferrer, Markus Ketteler, Fernando Tur, Eva Tur, Bernat Isern, Carolina Salcedo, Pieter H Joubert, Geert J Behets, Ellen Neven, Patrick C D'Haese, Joan Perelló
End-stage renal disease is strongly associated with progressive cardiovascular calcification (CVC) and there is currently no therapy targeted to treat CVC. SNF472 is an experimental formulation under development for treatment of soft tissue calcification. We have investigated the pharmacokinetics of SNF472 administration in rats and its inhibitory effects on CVC. SNF472 was studied in three rat models: (1) prevention of vitamin D3-induced CVC with an intravenous SNF472 bolus of 1 mg/kg SNF472, (2) inhibition of progression of vitamin D3-induced CVC with a subcutaneous SNF472 bolus of 10 or 60 mg/kg SNF472, starting after calcification induction, (3) CVC in adenine-induced uremic rats treated with 50 mg/kg SNF472 via i...
2018: PloS One
https://www.readbyqxmd.com/read/29741480/a-novel-cep120-dependent-mechanism-inhibits-centriole-maturation-in-quiescent-cells
#11
Ewelina Betleja, Rashmi Nanjundappa, Tao Cheng, Moe R Mahjoub
The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here we show that a daughter centriole-associated ciliopathy protein, Cep120, plays a critical inhibitory role at daughter centrioles. Depletion of Cep120 in quiescent mouse and human cells causes accumulation of pericentriolar material (PCM) components including Pericentrin, Cdk5Rap2, Ninein and Cep170...
May 9, 2018: ELife
https://www.readbyqxmd.com/read/29740109/locus-specific-engineering-of-tandem-dna-repeats-in-the-genome-of-saccharomyces-cerevisiae-using-crispr-cas9-and-overlapping-oligonucleotides
#12
Astrid Lancrey, Alexandra Joubert, Jean-Baptiste Boulé
DNA repeats constitute a large part of genomes of multicellular eucaryotes. For a longtime considered as junk DNA, their role in genome organization and tuning of gene expression is being increasingly documented. Synthetic biology has so far largely ignored DNA repeats as regulatory elements to manipulate functions in engineered genomes. The yeast Saccharomyces cerevisiae has been a workhorse of synthetic biology, owing to its genetic tractability. Here we demonstrate the ability to synthetize, in a simple manner, tandem DNA repeats of various size by Cas9-assisted oligonucleotide in vivo assembly in this organism...
May 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29726305/trail-making-tests-a-and-b-regression-based-normative-data-for-quebec-french-speaking-mid-and-older-aged-adults
#13
Alexandre St-Hilaire, Camille Parent, Olivier Potvin, Louis Bherer, Jean-François Gagnon, Sven Joubert, Sylvie Belleville, Maximiliano A Wilson, Lisa Koski, Isabelle Rouleau, Carol Hudon, Joël Macoir
OBJECTIVE: The Trail Making Test (TMT) is mainly used to assess visual scanning/processing speed (part A) and executive functions (part B). The test has proven sensitive at detecting cognitive impairment during aging. However, previous studies have shown differences between normative data from different countries and cultures, even when corrected for age and education. Such inconsistencies between normative data may lead to serious diagnostic errors, thus, the development of local norms is warranted...
May 4, 2018: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/29726023/the-determination-of-capreomycin-in-human-plasma-by-lc-ms-ms-using-ion-pairing-chromatography-and-solid-phase-extraction
#14
Blessings Thuboy, Tracy Kellermann, Sandra Castel, Jennifer Norman, Anton Joubert, Anthony J Garcia-Prats, Anneke C Hesseling, Lubbe Wiesner
A bioanalytical method was developed and validated for the quantification of Capreomycin (Cm) analogues, Cm IA and Cm IB, in human plasma. This implemented ion-pairing solid phase extraction (IP-SPE), followed by ion-pairing high performance liquid chromatography (IP-HPLC), with tandem mass spectrometry detection. Chromatographic separation was achieved using a Discovery C18, 5μm, 4.6 mm x 50 mm analytical column. An isocratic mobile phase consisting of water and acetonitrile with 0.1% formic acid and 4 mM Heptafluorobutyric acid (80,20; v/v), was used at a flow-rate of 500 μl per minute...
May 3, 2018: Biomedical Chromatography: BMC
https://www.readbyqxmd.com/read/29724384/long-term-azithromycin-therapy-to-reduce-acute-exacerbations-in-patients-with-severe-chronic-obstructive-pulmonary-disease
#15
Nafiseh Naderi, Deborah Assayag, Seyed-Mohammad-Yousof Mostafavi-Pour-Manshadi, Zeina Kaddaha, Alexandre Joubert, Isabelle Ouellet, Isabelle Drouin, Pei Zhi Li, Jean Bourbeau
RATIONALE: According to clinical trials, azithromycin taken daily for 1 year, decreased exacerbations of chronic obstructive pulmonary disease (COPD). OBJECTIVES: Effectiveness evaluation of long-term azithromycin to reduce exacerbations in severe COPD patient on optimal therapy in real-life practice. METHODS: We conducted a retrospective observational study of severe COPD patients who were prescribed azithromycin (PA)(250 mg, at least 3 times weekly for at least 6 months)...
May 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29719004/data-sharing-in-plos-one-an-analysis-of-data-availability-statements
#16
Lisa M Federer, Christopher W Belter, Douglas J Joubert, Alicia Livinski, Ya-Ling Lu, Lissa N Snyders, Holly Thompson
A number of publishers and funders, including PLOS, have recently adopted policies requiring researchers to share the data underlying their results and publications. Such policies help increase the reproducibility of the published literature, as well as make a larger body of data available for reuse and re-analysis. In this study, we evaluate the extent to which authors have complied with this policy by analyzing Data Availability Statements from 47,593 papers published in PLOS ONE between March 2014 (when the policy went into effect) and May 2016...
2018: PloS One
https://www.readbyqxmd.com/read/29718740/indazole-derivatives-and-their-therapeutic-applications-a-patent-review-2013-2017
#17
Ireen Denya, Sarel Malan, Jacques Joubert
Indazoles are heterocyclic moieties rarely found in nature. They are nitrogen containing chemical compounds composed of a pyrazole ring condensed with a benzene ring. Various indazole derivatives have been described with a wide variety of biological activities. This has aroused great interest in the development of novel indazole based therapeutic agents. Areas covered: Forty-two patents published within the last 5 years (2013-2017) describing derivatives with the indazole scaffold and their therapeutic applications were analysed...
May 2, 2018: Expert Opinion on Therapeutic Patents
https://www.readbyqxmd.com/read/29718247/emerging-resistance-mutations-in-pi-naive-patients-failing-an-atazanavir-based-regimen-anrs-multicentre-observational-study
#18
S Lambert-Niclot, M Grude, M L Chaix, C Charpentier, S Reigadas, H Le Guillou-Guillemette, A Rodallec, C Amiel, A Maillard, J Dufayard, T Mourez, A Mirand, J Guinard, B Montes, S Vallet, A G Marcelin, D Descamps, P Flandre, C Delaugerre, L Morand-Joubert
Background: Atazanavir is a PI widely used as a third agent in combination ART. We aimed to determine the prevalence and the patterns of resistance in PI-naive patients failing on an atazanavir-based regimen. Methods: We analysed patients failing on an atazanavir-containing regimen used as a first line of PI therapy. We compared the sequences of reverse transcriptase and protease before the introduction of atazanavir and at failure [two consecutive viral loads (VLs) >50 copies/mL]...
April 27, 2018: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/29709699/burden-of-severe-spondyloarthritis-in-france-a-nationwide-assessment-of-prevalence-associated-comorbidities-and-cost
#19
Pascal Claudepierre, Francis Fagnani, Gabrielle Cukierman, Thibault de Chalus, Jean-Michel Joubert, Caroline Laurendeau, Julie Gourmelen, Maxime Breban
OBJECTIVES: To estimate the number of patients with severe spondyloarthritis (SpA) in France, describe their comorbidities, and document and value their healthcare resource consumption. METHODS: Data were retrieved from an insurance claims database covering a 1/97 random sample of the French population. All patients benefiting from full insurance coverage ("ALD") for severe SpA in 2012 (including cases with structural damage and/or frequent flares) were identified, together with a control group frequency-matched by age and gender...
April 27, 2018: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29695797/a-biallelic-36-bp-insertion-in-pibf1-is-associated-with-joubert-syndrome
#20
Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M Girisha
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome...
April 25, 2018: Journal of Human Genetics
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