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https://www.readbyqxmd.com/read/28214596/early-non-response-to-certolizumab-pegol-in-rheumatoid-arthritis-predicts-treatment-failure-at-one-year-data-from-a-randomised-phase-iii-clinical-trial
#1
Francis Berenbaum, Thao Pham, Pascal Claudepierre, Thibault de Chalus, Jean-Michel Joubert, Carine Saadoun, Lionel Riou França, Bruno Fautrel
OBJECTIVES: To compare different early clinical criteria of non-response determined at three months as predictors of clinical failure at one year in patients with rheumatoid arthritis starting therapy with certolizumab pegol. METHODS: Data were derived from a randomised Phase III clinical trial in patients with rheumatoid arthritis who failed to respond to methotrexate monotherapy. Patients included in this post-hoc analysis were treated with certolizumab pegol (400mg qd reduced to 200mg qd after one month) and with methotrexate...
February 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28207036/lower-lateral-cartilages-an-anatomic-and-morphological-study-in-noses-of-black-southern-africans
#2
Cameron N D McIntosh, F Carl van Wyk, Gina Joubert, Riaz Y Seedat
No abstract text is available yet for this article.
March 1, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28178157/the-prognostic-influence-of-the-proliferative-discordance-in-metastatic-pancreatic-neuroendocrine-carcinoma-revealed-by-peptide-receptor-radionuclide-therapy-case-report-and-review-of-literature
#3
Nathanaëlle Montanier, Juliette Joubert-Zakeyh, Caroline Pétorin, Pierre François Montoriol, Salwan Maqdasy, Antony Kelly
RATIONALE: Pancreatic neuroendocrine tumors (pNET) are rare slowly growing tumors with a high metastatic potential. Peptide receptor radionuclide therapy (PRRT) with radiolabeled analogues has been developed as a new tool for the management of metastatic well-differentiated (grade 1 and 2) neuroendocrine tumors expressing somatostatin receptor (SSTR2). Chemotherapy is the mainstay in the management of grade 3 (G3) unresectable pancreatic neuroendocrine carcinoma (pNEC). To date, no study has evaluated the efficacy of PRRT in such tumors...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28173652/-clinical-and-genetic-analysis-of-a-family-with-joubert-syndrome-type-10-caused-by-ofd1-gene-mutation
#4
C Meng, K H Zhang, J Ma, X Gao, K Yu, H Y Zhang, Y Wang, Z X Zhang, W G Li, Y Liu, Z T Gai
Objective: To investigate the genetic cause for a family with multiorgan dysplasia and "molar tooth sign" on MRI image. Method: The patient, a 3 months and 21 days old boy, was clinically examined and the medical history of his family was collected. Next generation sequencing was performed to analyze his clinical and genetic causes. Result: Clinical manifestation of the child displayed multiorgan dysplasia, such as six finger deformity, short limbs, coloboma of optic disc and choroid, situs inversus.Cranial MRI showed "molar tooth sign" ...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28172980/prenylated-retinal-ciliopathy-protein-rpgr-interacts-with-pde6%C3%AE-and-regulates-ciliary-localization-of-joubert-syndrome-associated-protein-inpp5e
#5
Kollu N Rao, Wei Zhang, Linjing Li, Manisha Anand, Hemant Khanna
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28166213/genome-wide-association-analyses-for-lung-function-and-chronic-obstructive-pulmonary-disease-identify-new-loci-and-potential-druggable-targets
#6
Louise V Wain, Nick Shrine, María Soler Artigas, A Mesut Erzurumluoglu, Boris Noyvert, Lara Bossini-Castillo, Ma'en Obeidat, Amanda P Henry, Michael A Portelli, Robert J Hall, Charlotte K Billington, Tracy L Rimington, Anthony G Fenech, Catherine John, Tineka Blake, Victoria E Jackson, Richard J Allen, Bram P Prins, Archie Campbell, David J Porteous, Marjo-Riitta Jarvelin, Matthias Wielscher, Alan L James, Jennie Hui, Nicholas J Wareham, Jing Hua Zhao, James F Wilson, Peter K Joshi, Beate Stubbe, Rajesh Rawal, Holger Schulz, Medea Imboden, Nicole M Probst-Hensch, Stefan Karrasch, Christian Gieger, Ian J Deary, Sarah E Harris, Jonathan Marten, Igor Rudan, Stefan Enroth, Ulf Gyllensten, Shona M Kerr, Ozren Polasek, Mika Kähönen, Ida Surakka, Veronique Vitart, Caroline Hayward, Terho Lehtimäki, Olli T Raitakari, David M Evans, A John Henderson, Craig E Pennell, Carol A Wang, Peter D Sly, Emily S Wan, Robert Busch, Brian D Hobbs, Augusto A Litonjua, David W Sparrow, Amund Gulsvik, Per S Bakke, James D Crapo, Terri H Beaty, Nadia N Hansel, Rasika A Mathias, Ingo Ruczinski, Kathleen C Barnes, Yohan Bossé, Philippe Joubert, Maarten van den Berge, Corry-Anke Brandsma, Peter D Paré, Don D Sin, David C Nickle, Ke Hao, Omri Gottesman, Frederick E Dewey, Shannon E Bruse, David J Carey, H Lester Kirchner, Stefan Jonsson, Gudmar Thorleifsson, Ingileif Jonsdottir, Thorarinn Gislason, Kari Stefansson, Claudia Schurmann, Girish Nadkarni, Erwin P Bottinger, Ruth J F Loos, Robin G Walters, Zhengming Chen, Iona Y Millwood, Julien Vaucher, Om P Kurmi, Liming Li, Anna L Hansell, Chris Brightling, Eleftheria Zeggini, Michael H Cho, Edwin K Silverman, Ian Sayers, Gosia Trynka, Andrew P Morris, David P Strachan, Ian P Hall, Martin D Tobin
Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (∼6 alleles) (95% confidence interval) = 1...
February 6, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28154314/effectiveness-of-x-ray-computed-microtomography-to-determine-structureproperty-relationships-of-gutta-percha
#7
Liudi Zhang, Christopher Joubert, George Bruder, Kai Yang, Alexa Aseel-Fine, Keith Jones, Miriam Rafailovich
We have shown that Computed Microtomography (CMT) is able to map the internal distribution of the filler particles in ProTaper(TM), Lexicon(TM), and GuttaCore(TM) materials, and explain the differences in their tensile and ductility properties, prior to mechanical manipulation. Working of uncrosslinked ProTaper™ and Lexicon(TM) samples resulted in a five-fold increase in ductility and the tensile elongation at break. CMT mapping of the internal structure showed that large, periodic, striations formed across the interior of the sample corresponding to the formation of regions with low filler particle density...
February 1, 2017: Dental Materials Journal
https://www.readbyqxmd.com/read/28151755/renal-cystic-disease-and-associated-ciliopathies
#8
Karl O Kagan, Andreas Dufke, Ulrich Gembruch
PURPOSE OF REVIEW: To review disorders that are associated with renal cystic disease during prenatal life and to highlight the strong association between renal cystic disease and ciliopathies. RECENT FINDINGS: There are numerous causative genes for ciliopathies that can present with cystic kidney disease. In the group of single gene ciliopathies, autosomal dominant polycystic kidney disease is by far the most prevalent one. Other examples are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, Meckel-Gruber syndrome, Joubert syndrome and related disorders as well as X-linked orofaciodigital syndrome type 1, respectively...
February 1, 2017: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28144213/abdominal-approaches-to-rectal-prolapse
#9
REVIEW
Kyla Joubert, Jonathan A Laryea
Rectal prolapse is a debilitating condition with a complex etiology. Symptoms are most commonly prolapse of the rectum and pain with bowel movements or straining, with worsening fecal incontinence over time due to progressive stretching of the anal sphincters. Physical findings are fairly consistent from patient to patient-most notably diastasis of the levator ani muscles, deep pouch of Douglas, redundant sigmoid colon, a mobile mesorectum, and occasionally a solitary rectal ulcer. Evaluation includes a physical exam or imaging demonstrating the prolapse, and evaluating for other causes of pelvic floor dysfunction...
February 2017: Clinics in Colon and Rectal Surgery
https://www.readbyqxmd.com/read/28127172/orocraniofacial-findings-of-a-pediatric-patient-with-joubert-syndrome
#10
Mridula Goswami, Anju S Rajwar, Mahesh Verma
: Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging...
October 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28125082/molecular-genetic-findings-and-clinical-correlations-in-100-patients-with-joubert-syndrome-and-related-disorders-prospectively-evaluated-at-a-single-center
#11
Thierry Vilboux, Daniel A Doherty, Ian A Glass, Melissa A Parisi, Ian G Phelps, Andrew R Cullinane, Wadih Zein, Brian P Brooks, Theo Heller, Ariane Soldatos, Neal L Oden, Deniz Yildirimli, Meghana Vemulapalli, James C Mullikin, Nisc Comparative Sequencing Program, May Christine V Malicdan, William A Gahl, Meral Gunay-Aygun
PURPOSE: Joubert syndrome (JS) is a genetically and clinically heterogeneous ciliopathy characterized by distinct cerebellar and brainstem malformations resulting in the diagnostic "molar tooth sign" on brain imaging. To date, more than 30 JS genes have been identified, but these do not account for all patients. METHODS: In our cohort of 100 patients with JS from 86 families, we prospectively performed extensive clinical evaluation and provided molecular diagnosis using a targeted 27-gene Molecular Inversion Probes panel followed by whole-exome sequencing (WES)...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28118669/the-ciliopathy-gene-ahi1-is-required-for-zebrafish-cone-photoreceptor-outer-segment-morphogenesis-and-survival
#12
Emma M Lessieur, Joseph Fogerty, Robert J Gaivin, Ping Song, Brian D Perkins
Purpose: Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 10% of all JBTS cases. The purpose of this study was to generate ahi1 mutant alleles in zebrafish and to characterize the retinal phenotypes. Methods: Zebrafish ahi1 mutants were generated using transcription activator-like effector nucleases (TALENs)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28118045/impact-of-a-paper-based-dynamic-insulin-infusion-protocol-on-glycemic-variability-time-in-target-and-hypoglycemic-risk-a-stepped-wedge-trial-in-medical-intensive-care-unit-patients
#13
Antoine Clergeau, Jean-Jacques Parienti, Yves Reznik, Deborah Clergeau, Amelie Seguin, Xavier Valette, Damien du Cheyron, Michael Joubert
BACKGROUND: Stress-induced hyperglycemia is a common feature of intensive care unit (ICU) patients. Besides mean blood glucose (BG) level, glucose variability and hypoglycemia have been highlighted as independent predictors of ICU and hospital mortality. Recent ICU recommendations suggest using insulin infusion protocols that can minimize glucose variability and hypoglycemic risk. Our aim was to assess the efficacy, safety, and acceptance by nurses of a paper-based simple dynamic insulin protocol compared with those by nurses of a paper-based static protocol...
February 2017: Diabetes Technology & Therapeutics
https://www.readbyqxmd.com/read/28102635/characterization-of-an-emirati-tmem138-mutation-leading-to-joubert-syndrome
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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