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https://www.readbyqxmd.com/read/28102635/characterization-of-an-emirati-tmem138-mutation-leading-to-joubert-syndrome
#1
Sami Bizzari, Abdul Rezzak Hamzeh, Pratibha Nair, Madiha Mohamed, Fatma Bastaki
No abstract text is available yet for this article.
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28098811/aspalathin-protects-the-heart-against-hyperglycemia-induced-oxidative-damage-by-up-regulating-nrf2-expression
#2
Phiwayinkosi V Dludla, Christo J F Muller, Elizabeth Joubert, Johan Louw, M Faadiel Essop, Kwazi B Gabuza, Samira Ghoor, Barbara Huisamen, Rabia Johnson
Aspalathin (ASP) can protect H9c2 cardiomyocytes against high glucose (HG)-induced shifts in myocardial substrate preference, oxidative stress, and apoptosis. The protective mechanism of ASP remains unknown. However, as one of possible, it is well known that phytochemical flavonoids reduce oxidative stress via nuclear factor (erythroid-derived 2)-like 2 (Nrf2) activation resulting in up-regulation of antioxidant genes and enzymes. Therefore, we hypothesized that ASP protects the myocardium against HG- and hyperglycemia-induced oxidative damage by up-regulating Nrf2 expression in H9c2 cardiomyocytes and diabetic (db/db) mice, respectively...
January 14, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28091535/visualization-of-the-role-of-host-heme-on-the-virulence-of-the-heme-auxotroph-streptococcus-agalactiae
#3
Laetitia Joubert, Jean-Baptiste Dagieu, Annabelle Fernandez, Aurélie Derré-Bobillot, Elise Borezée-Durant, Isabelle Fleurot, Alexandra Gruss, Delphine Lechardeur
Heme is essential for several cellular key functions but is also toxic. Whereas most bacterial pathogens utilize heme as a metabolic cofactor and iron source, the impact of host heme during bacterial infection remains elusive. The opportunist pathogen Streptococcus agalactiae does not synthesize heme but still uses it to activate a respiration metabolism. Concomitantly, heme toxicity is mainly controlled by the HrtBA efflux transporter. Here we investigate how S. agalactiae manages heme toxicity versus benefits in the living host...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28087721/joubert-syndrome-neuroimaging-findings-in-110-patients-in-correlation-with-cognitive-function-and-genetic-cause
#4
Andrea Poretti, Joseph Snow, Angela C Summers, Aylin Tekes, Thierry A G M Huisman, Nafi Aygun, Kathryn A Carson, Dan Doherty, Melissa A Parisi, Camilo Toro, Deniz Yildirimli, Meghana Vemulapalli, Jim C Mullikin, Andrew R Cullinane, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
BACKGROUND: Joubert syndrome is a clinically and genetically heterogeneous ciliopathy. Neuroimaging findings have not been systematically evaluated in a large cohort of patients with Joubert syndrome in correlation with molecular genetic cause and cognitive function. METHODS: Brain MRI of 110 patients with Joubert syndrome was included in this study. A comprehensive evaluation of brain MRI studies for infratentorial and supratentorial morphological abnormalities was performed...
January 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28068245/ku70-ku80-and-sclusterin-a-cluster-of-predicting-factors-for-response-to-neoadjuvant-chemoradiation-therapy-in-patients-with-locally-advanced-rectal-cancer
#5
Sabina Pucci, Chiara Polidoro, Alessandro Joubert, Francesca Mastrangeli, Barbara Tolu, Michaela Benassi, Valeria Fiaschetti, Laura Greco, Roberto Miceli, Roberto Floris, Giuseppe Novelli, Augusto Orlandi, Riccardo Santoni
PURPOSE: The identification of predictive biomarkers for neoadjuvant chemoradiation therapy (CRT) is a current clinical need. The heterodimer Ku70/80 plays a critical role in DNA repair and cell death induction after damage. The aberrant expression and localization of these proteins fail to control DNA repair and apoptosis. sClusterin is the Ku70 partner that sterically inhibits Bax-dependent cell death after damage in some pathologic conditions. This study sought to evaluate the molecular relevance of Ku70-Ku80-Clu as a molecular cluster predicting the response to neoadjuvant CRT in patients with locally advanced rectal cancer (LARC)...
February 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28062719/characteristics-in-limbic-encephalitis-with-anti-adenylate-kinase-5-autoantibodies
#6
Le-Duy Do, Eve Chanson, Virginie Desestret, Bastien Joubert, François Ducray, Sabine Brugière, Yohann Couté, Maité Formaglio, Veronique Rogemond, Catherine Thomas-Antérion, Laura Borrega, Brice Laurens, Francois Tison, Jonathan Curot, Thomas De Brouker, Christine Lebrun-Frenay, Jean-Yves Delattre, Jean-Christophe Antoine, Jerome Honnorat
OBJECTIVE: To report 10 patients with limbic encephalitis (LE) and adenylate kinase 5 autoantibodies (AK5-Abs). METHODS: We conducted a retrospective study in a cohort of 50 patients with LE with uncharacterized autoantibodies and identified a specific target using immunohistochemistry, Western blotting, immunoprecipitation, mass spectrometry, and cell-based assay. RESULTS: AK5 (a known autoantigen of LE) was identified as the target of antibodies in the CSFs and sera of 10 patients with LE (median age 64 years; range 57-80), which was characterized by subacute anterograde amnesia without seizure and sometimes preceded by a prodromal phase of asthenia or mood disturbances...
January 6, 2017: Neurology
https://www.readbyqxmd.com/read/28052965/the-sglt2-inhibitor-dapagliflozin-prevents-cardiomyopathy-in-a-diabetic-lipodystrophic-mouse-model
#7
Michael Joubert, Benoît Jagu, David Montaigne, Xavier Marechal, Angela Tesse, Audrey Ayer, Lucile Dollet, Cédric Le May, Gilles Toumaniantz, Alain Manrique, Flavien Charpentier, Bart Staels, Jocelyne Magré, Bertand Cariou, Xavier Prieur
Type 2 diabetes mellitus (T2DM) is a well-recognized independent risk factor for heart failure (HF). T2DM is associated with altered cardiac energy metabolism, leading to ectopic lipid accumulation and glucose overload, the exact contribution of these two parameters remaining unclear. To provide new insight into the mechanism driving the development of diabetic cardiomyopathy, we studied a unique model of T2DM: lipodystrophic Bscl2(-/-) (seipin knockout (SKO)) mice. Echocardiography and cardiac magnetic resonance imaging revealed hypertrophic cardiomyopathy with left ventricular dysfunction in SKO mice and these two abnormalities were strongly correlated with hyperglycemia...
January 4, 2017: Diabetes
https://www.readbyqxmd.com/read/28052552/celsr2-encoding-a-planar-cell-polarity-protein-is-a-putative-gene-in-joubert-syndrome-with-cortical-heterotopia-microophthalmia-and-growth-hormone-deficiency
#8
Thierry Vilboux, May Christine V Malicdan, Joseph C Roney, Andrew R Cullinane, Joshi Stephen, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Peter J Steinbach, William A Gahl, Meral Gunay-Aygun
Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity...
January 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28052210/joubert-plus-syndrome-with-self-mutilation-a-case-report
#9
Yousr N Mowafy, Nadia A Wahba, Aly A Sharaf
BACKGROUND: Joubert syndrome is a very rare condition with dismal prognosis. It is characterized by several abnormalities including molar tooth sign on MRI. When coupled with mega cisterna magna- a feature of the Dandy Walker syndrome- it is categorized as Joubert plus syndrome. CASE REPORT: A 16 month old male child with Joubert syndrome was referred to the Pediatric Dentistry Department Clinic, Faculty of Dentistry Alexandria University, complaining of severe tongue and lower lip injury due to self-mutilation...
2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28052065/comparison-of-stable-and-transient-wolbachia-infection-models-in-aedes-aegypti-to-block-dengue-and-west-nile-viruses
#10
Dirk Albert Joubert, Scott L O'Neill
Pathogen replication and transmission in Wolbachia infected insects are currently studied using three Wolbachia infection systems: naturally infected Wolbachia hosts, hosts transinfected with Wolbachia (stably maintained and inherited infections) and hosts transiently infected with Wolbachia. All three systems have been used to test the effect of Wolbachia on mosquito transmitted pathogens such as dengue virus (DENV), West Nile virus (WNV) and Plasmodium. From these studies it is becoming increasingly clear that the interaction between a particular pathogen and Wolbachia is heavily influenced by the host-Wolbachia interaction and the model of infection...
January 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28036173/topologically-correct-quantum-nonadiabatic-formalism-for-on-the-fly-dynamics
#11
Loïc Joubert-Doriol, Janakan Sivasubramanium, Ilya G Ryabinkin, Artur F Izmaylov
On-the-fly quantum nonadiabatic dynamics for large systems greatly benefits from the adiabatic representation readily available from electronic structure programs. However, conical intersections frequently occurring in this representation introduce nontrivial geometric or Berry phases which require a special treatment for adequate modeling of the nuclear dynamics. We analyze two approaches for nonadiabatic dynamics using the time-dependent variational principle and the adiabatic representation. The first approach employs adiabatic electronic functions with global parametric dependence on the nuclear coordinates...
January 19, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28031327/inpp5e-preserves-genomic-stability-through-regulation-of-mitosis
#12
Elizabeth A Sierra Potchanant, Donna Cerabona, Zahi Abdul Sater, Ying He, Zejin Sun, Jeff Gehlhausen, Grzegorz Nalepa
The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase mutated in the developmental disorders Joubert and MORM syndromes, is essential for the function of the primary cilium and maintenance of phosphoinositide balance in non-dividing cells. Here, we report that INPP5E further contributes to cellular homeostasis by regulating cell division. We found that silencing or genetic knockout of INPP5E in human and murine cells impairs the spindle assembly checkpoint, centrosome and spindle function, and maintenance of chromosomal integrity...
December 28, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28029746/respiratory-manifestations-in-38-patients-with-alstr%C3%A3-m-syndrome
#13
Caroline Boerwinkle, Jan D Marshall, Joy Bryant, William A Gahl, Kenneth N Olivier, Meral Gunay-Aygun
OBJECTIVES: Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease...
December 28, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28018441/a-neonate-with-joubert-syndrome-presenting-with-symptoms-of-horner-syndrome
#14
Narae Lee, Sang-Ook Nam, Young Mi Kim, Yun-Jin Lee
Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28018238/key-brainstem-structures-activated-during-hypoxic-exposure-in-one-day-old-mice-highlight-characteristics-for-modeling-breathing-network-in-premature-infants
#15
Fanny Joubert, Camille Loiseau, Anne-Sophie Perrin-Terrin, Florence Cayetanot, Alain Frugière, Nicolas Voituron, Laurence Bodineau
We mapped and characterized changes in the activity of brainstem cell groups under hypoxia in one-day-old newborn mice, an animal model in which the central nervous system at birth is particularly immature. The classical biphasic respiratory response characterized by transient hyperventilation, followed by severe ventilation decline, was associated with increased c-FOS immunoreactivity in brainstem cell groups: the nucleus of the solitary tract, ventral reticular nucleus of the medulla, retrotrapezoid/parafacial region, parapyramidal group, raphe magnus nucleus, lateral, and medial parabrachial nucleus, and dorsal subcoeruleus nucleus...
2016: Frontiers in Physiology
https://www.readbyqxmd.com/read/28017521/the-ciliopathy-associated-cep104-protein-interacts-with-tubulin-and-nek1-kinase
#16
Caezar Al-Jassar, Antonina Andreeva, Deepak D Barnabas, Stephen H McLaughlin, Christopher M Johnson, Minmin Yu, Mark van Breugel
Cilia are thin cell projections with essential roles in cell motility, fluid movement, sensing, and signaling. They are templated from centrioles that dock against the plasma membrane and subsequently extend their peripheral microtubule array. The molecular mechanisms underpinning cilia assembly are incompletely understood. Cep104 is a key factor involved in cilia formation and length regulation that rides on the ends of elongating and shrinking cilia. It is mutated in Joubert syndrome, a genetically heterogeneous ciliopathy...
January 3, 2017: Structure
https://www.readbyqxmd.com/read/28001274/language-behavior-and-neurodevelopment-in-joubert-syndrome-a-case-report
#17
Dionísia Aparecida Cusin Lamônica, Camila da Costa Ribeiro, Antonio Richieri-Costa, Célia Maria Giacheti
The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS)...
November 2016: CoDAS
https://www.readbyqxmd.com/read/27998989/inpp5e-regulates-phosphoinositide-dependent-cilia-transition-zone-function
#18
Jennifer M Dyson, Sarah E Conduit, Sandra J Feeney, Sandra Hakim, Tia DiTommaso, Alex J Fulcher, Absorn Sriratana, Georg Ramm, Kristy A Horan, Rajendra Gurung, Carol Wicking, Ian Smyth, Christina A Mitchell
Human ciliopathies, including Joubert syndrome (JBTS), arise from cilia dysfunction. The inositol polyphosphate 5-phosphatase INPP5E localizes to cilia and is mutated in JBTS. Murine Inpp5e ablation is embryonically lethal and recapitulates JBTS, including neural tube defects and polydactyly; however, the underlying defects in cilia signaling and the function of INPP5E at cilia are still emerging. We report Inpp5e(-/-) embryos exhibit aberrant Hedgehog-dependent patterning with reduced Hedgehog signaling. Using mouse genetics, we show increasing Hedgehog signaling via Smoothened M2 expression rescues some Inpp5e(-/-) ciliopathy phenotypes and "normalizes" Hedgehog signaling...
January 2, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/27997227/aggressive-drive-derivatives-in-the-rorschachs-of-maltreated-children-and-adolescents-latent-structure-and-clinical-correlates
#19
David Joubert, Linda Webster
Psychological assessment can play an important role in informing the intervention process with child and adolescent victims of maltreatment. This study investigated the validity of the Rorschach in assessing aggressive drive derivatives using a profile-based approach, with a sample of 108 children and adolescents in foster care. Aggression indicators were derived from the work of Gacono and Meloy ( 1994 ). Latent class analysis yielded a 4-class model including gender and age as covariates. The first 2 classes were characterized by low prevalence rates across all indicators of aggression, and were distinguished primarily on the basis of participant's age...
December 20, 2016: Journal of Personality Assessment
https://www.readbyqxmd.com/read/27976448/point-of-care-ultrasound-for-non-angulated-distal-forearm-fractures-in-children-test-performance-characteristics-and-patient-centered-outcomes
#20
Naveen Poonai, Frank Myslik, Gary Joubert, Josiah Fan, Amita Misir, Victor Istasy, Melanie Columbus, Robert Soegtrop, Alex Goldfarb, Drew Thompson, Alexander Sasha Dubrovsky
OBJECTIVES: Distal forearm fractures are the most common fracture type in children. Point-of-care-ultrasound (POCUS) is increasingly being used and preliminary studies suggest it offers an accurate approach to diagnosis. However, outcomes such as pain, satisfaction, and procedure duration have not been explored but may be salient to the widespread acceptance of this technology by caregivers and children. Our objectives were to examine the test performance characteristics of POCUS for non-angulated distal forearm injuries in children and compare POCUS to x-ray with respect to pain, caregiver satisfaction, and procedure duration...
December 15, 2016: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
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