keyword
MENU ▼
Read by QxMD icon Read
search

Joubert's

keyword
https://www.readbyqxmd.com/read/28639807/the-impact-of-time-and-repeated-exposure-on-famous-person-knowledge-in-amnestic-mild-cognitive-impairment-and-alzheimer-s-disease
#1
Sophie Benoit, Isabelle Rouleau, Roxane Langlois, Valérie Dostie, Marie-Jeanne Kergoat, Sven Joubert
OBJECTIVE: Famous people knowledge has been shown to be impaired early in Alzheimer's disease (AD) and amnestic mild cognitive impairment (aMCI). However, the question of whether recently acquired knowledge is more impaired than remotely acquired knowledge remains a matter of debate. The aim of this study was to investigate the patterns of semantic memory impairment in aMCI and AD by investigating 2 factors that may influence the retrieval of such knowledge, namely remoteness and frequency of repetition of information over time...
June 22, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28638854/autoimmune-episodic-ataxia-in-patients-with-anti-caspr2-antibody-associated-encephalitis
#2
Bastien Joubert, Florent Gobert, Laure Thomas, Margaux Saint-Martin, Virginie Desestret, Philippe Convers, Véronique Rogemond, Géraldine Picard, François Ducray, Dimitri Psimaras, Jean-Christophe Antoine, Jean-Yves Delattre, Jérôme Honnorat
OBJECTIVE: To report paroxysmal episodes of cerebellar ataxia in a patient with anti-contactin-associated protein-like 2 (CASPR2) antibody-related autoimmune encephalitis and to search for similar paroxysmal ataxia in a cohort of patients with anti-CASPR2 antibody-associated autoimmune encephalitis. METHODS: We report a patient with paroxysmal episodes of cerebellar ataxia observed during autoimmune encephalitis with anti-CASPR2 antibodies. In addition, clinical analysis was performed in a retrospective cohort of 37 patients with anti-CASPR2 antibodies to search for transient episodes of ataxia...
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28625504/mutations-in-armc9-which-encodes-a-basal-body-protein-cause-joubert-syndrome-in-humans-and-ciliopathy-phenotypes-in-zebrafish
#3
Julie C Van De Weghe, Tamara D S Rusterholz, Brooke Latour, Megan E Grout, Kimberly A Aldinger, Ranad Shaheen, Jennifer C Dempsey, Sateesh Maddirevula, Yong-Han H Cheng, Ian G Phelps, Matthias Gesemann, Himanshu Goel, Ohad S Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O Khan, Michael J Bamshad, Deborah A Nickerson, Stephan C F Neuhauss, William B Dobyns, Fowzan S Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, abnormal eye movements, and variable cognitive impairment. It is defined by a distinctive brain malformation known as the "molar tooth sign" on axial MRI. Subsets of affected individuals have malformations such as coloboma, polydactyly, and encephalocele, as well as progressive retinal dystrophy, fibrocystic kidney disease, and liver fibrosis. More than 35 genes have been associated with JS, but in a subset of families the genetic cause remains unknown...
June 14, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28624747/who-is-most-affected-by-prenatal-alcohol-exposure-boys-or-girls
#4
Philip A May, Barbara Tabachnick, Julie M Hasken, Anna-Susan Marais, Marlene M de Vries, Ronel Barnard, Belinda Joubert, Marise Cloete, Isobel Botha, Wendy O Kalberg, David Buckley, Zachary R Burroughs, Heidre Bezuidenhout, Luther K Robinson, Melanie A Manning, Colleen M Adnams, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
OBJECTIVE: To examine outcomes among boys and girls that are associated with prenatal alcohol exposure. METHODS: Boys and girls with fetal alcohol spectrum disorders (FASD) and randomly-selected controls were compared on a variety of physical and neurobehavioral traits. RESULTS: Sex ratios indicated that heavy maternal binge drinking may have significantly diminished viability to birth and survival of boys postpartum more than girls by age seven...
June 15, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28620746/uniparental-disomy-as-an-unexpected-cause-of-meckel-gruber-syndrome-report-of-a-case
#5
Nadia Ortiz Bruechle, Peter Steuernagel, Klaus Zerres, Ingo Kurth, Thomas Eggermann, Cordula Knopp
BACKGROUND: Meckel-Gruber syndrome (MKS, OMIM #607361) is a rare pre- or perinatal lethal autosomal recessive ciliopathy caused by mutations in at least 12 known genes. It has a clinical and genetic overlap with other viable ciliopathies, especially Joubert syndrome and Joubert syndrome-related disorders. MKS is characterized by multicystic kidney dysplasia, central nervous system malformations (usually occipital encephalocele), ductal plate malformation of the liver, and postaxial polydactyly...
June 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28604730/large-scale-association-analysis-identifies-new-lung-cancer-susceptibility-loci-and-heterogeneity-in-genetic-susceptibility-across-histological-subtypes
#6
James D McKay, Rayjean J Hung, Younghun Han, Xuchen Zong, Robert Carreras-Torres, David C Christiani, Neil E Caporaso, Mattias Johansson, Xiangjun Xiao, Yafang Li, Jinyoung Byun, Alison Dunning, Karen A Pooley, David C Qian, Xuemei Ji, Geoffrey Liu, Maria N Timofeeva, Stig E Bojesen, Xifeng Wu, Loic Le Marchand, Demetrios Albanes, Heike Bickeböller, Melinda C Aldrich, William S Bush, Adonina Tardon, Gad Rennert, M Dawn Teare, John K Field, Lambertus A Kiemeney, Philip Lazarus, Aage Haugen, Stephen Lam, Matthew B Schabath, Angeline S Andrew, Hongbing Shen, Yun-Chul Hong, Jian-Min Yuan, Pier Alberto Bertazzi, Angela C Pesatori, Yuanqing Ye, Nancy Diao, Li Su, Ruyang Zhang, Yonathan Brhane, Natasha Leighl, Jakob S Johansen, Anders Mellemgaard, Walid Saliba, Christopher A Haiman, Lynne R Wilkens, Ana Fernandez-Somoano, Guillermo Fernandez-Tardon, Henricus F M van der Heijden, Jin Hee Kim, Juncheng Dai, Zhibin Hu, Michael P A Davies, Michael W Marcus, Hans Brunnström, Jonas Manjer, Olle Melander, David C Muller, Kim Overvad, Antonia Trichopoulou, Rosario Tumino, Jennifer A Doherty, Matt P Barnett, Chu Chen, Gary E Goodman, Angela Cox, Fiona Taylor, Penella Woll, Irene Brüske, H-Erich Wichmann, Judith Manz, Thomas R Muley, Angela Risch, Albert Rosenberger, Kjell Grankvist, Mikael Johansson, Frances A Shepherd, Ming-Sound Tsao, Susanne M Arnold, Eric B Haura, Ciprian Bolca, Ivana Holcatova, Vladimir Janout, Milica Kontic, Jolanta Lissowska, Anush Mukeria, Simona Ognjanovic, Tadeusz M Orlowski, Ghislaine Scelo, Beata Swiatkowska, David Zaridze, Per Bakke, Vidar Skaug, Shanbeh Zienolddiny, Eric J Duell, Lesley M Butler, Woon-Puay Koh, Yu-Tang Gao, Richard S Houlston, John McLaughlin, Victoria L Stevens, Philippe Joubert, Maxime Lamontagne, David C Nickle, Ma'en Obeidat, Wim Timens, Bin Zhu, Lei Song, Linda Kachuri, María Soler Artigas, Martin D Tobin, Louise V Wain, Thorunn Rafnar, Thorgeir E Thorgeirsson, Gunnar W Reginsson, Kari Stefansson, Dana B Hancock, Laura J Bierut, Margaret R Spitz, Nathan C Gaddis, Sharon M Lutz, Fangyi Gu, Eric O Johnson, Ahsan Kamal, Claudio Pikielny, Dakai Zhu, Sara Lindströem, Xia Jiang, Rachel F Tyndale, Georgia Chenevix-Trench, Jonathan Beesley, Yohan Bossé, Stephen Chanock, Paul Brennan, Maria Teresa Landi, Christopher I Amos
Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis of lung cancer in 29,266 cases and 56,450 controls. We identified 18 susceptibility loci achieving genome-wide significance, including 10 new loci. The new loci highlight the striking heterogeneity in genetic susceptibility across the histological subtypes of lung cancer, with four loci associated with lung cancer overall and six loci associated with lung adenocarcinoma...
June 12, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28604314/south-africa-s-vital-statistics-are-currently-not-suitable-for-monitoring-progress-towards-injury-and-violence-sustainable-development-goals
#7
Megan Prinsloo, Debbie Bradshaw, Jané Joubert, Richard Matzopoulos, Pam Groenewald
No abstract text is available yet for this article.
May 24, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28604212/joubert-syndrome
#8
Doreen Crawford, Annette Dearmun
Named after the French doctor who first described this rare neurological condition, Joubert syndrome is characterised by developmental delay, hypotonia, ataxia and oculomotor apraxia.
June 12, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/28603800/molecular-topological-insulators-a-case-study-of-electron-transfer-in-the-bis-methylene-adamantyl-carbocation
#9
Loïc Joubert-Doriol, Artur F Izmaylov
A topological or geometric phase (GP) blockade can be introduced in molecular electron transfer processes if a conical intersection (CI) occurs between two charge configurations. The origin of the blockade is in the destructive interference of two pathways around the CI that acquire opposite GPs. Electron transfer quantum dynamics including and excluding GP have been modelled for the bis(methylene) adamantyl carbocation. These calculations have shown unambiguously that the CI topology and the induced GP are responsible for the transport blockade...
June 12, 2017: Chemical Communications: Chem Comm
https://www.readbyqxmd.com/read/28600477/targeting-the-wnt-pathway-and-cancer-stem-cells-with-anti-progastrin-humanized-antibodies-a-major-breakthrough-for-k-ras-mutated-colorectal-cancer-treatment
#10
Alexandre Prieur, Monica Cappellini, Guillaume Habif, Marie-Paule Lefranc, Thibault Mazard, Eric Morency, Jean-Marc Pascussi, Maud Flaceliere, Nathalie Cahuzac, Berengere Vire, Benjamin Dubuc, Amandine Durochat, Pierre Liaud, Jérémy Ollier, Caroline Pfeiffer, Sophie Poupeau, Véronique Saywell, Chris Planque, Eric Assenat, Frédéric Bibeau, Jean-François Bourgaux, Pascal Pujol, Alain Sézeur, Marc Ychou, Dominique Joubert
<p>Patients with metastatic colorectal cancer (CRC) suffer from disease relapse mainly due to cancer stem cells (CSC). Interestingly, they have an increased level of blood progastrin, a tumor-promoting peptide essential for the self-renewal of colon CSCs, which is also a direct b-catenin/Tcf4 target gene. In this study we aimed to develop a novel targeted therapy to neutralize secreted progastrin in order to inhibit Wnt signaling, CSCs and reduce relapses.</p> Experimental Design: <p>Antibodies (monoclonal and humanized) directed against progastrin were produced and selected for target specificity and affinity...
June 9, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28600062/prenatal-diagnosis-of-joubert-syndrome-by-ultrasound-and-magnetic-resonance-imaging-report-of-three-cases
#11
Xudong Yu, Zhong Zhen, Juanxia Li, Wenzhong Yang, Xinlin Chen
No abstract text is available yet for this article.
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28596487/znf131-suppresses-centrosome-fragmentation-in-glioblastoma-stem-like-cells-through-regulation-of-haus5
#12
Yu Ding, Jacob A Herman, Chad M Toledo, Jackie M Lang, Philip Corrin, Emily J Girard, Ryan Basom, Jeffrey J Delrow, James M Olson, Patrick J Paddison
Zinc finger domain genes comprise ~3% of the human genome, yet many of their functions remain unknown. Here we investigated roles for the vertebrate-specific BTB domain zinc finger gene ZNF131 in the context of human brain tumors. We report that ZNF131 is broadly required for Glioblastoma stem-like cell (GSC) viability, but dispensable for neural progenitor cell (NPC) viability. Examination of gene expression changes after ZNF131 knockdown (kd) revealed that ZNF131 activity notably promotes expression of Joubert Syndrome ciliopathy genes, including KIF7, NPHP1, and TMEM237, as well as HAUS5, a component of Augmin/HAUS complex that facilitates microtubule nucleation along the mitotic spindle...
May 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28569654/-unexpected-and-distressing-understanding-and-improving-the-experience-of-transferring-palliative-care-inpatients-to-residential-care
#13
Voula Kallianis, Lynette Joubert, Sue Gorman, Sonia Posenelli, Carolyn Lethborg
The survival of patients with advanced cancer, coupled with the increased presence of end-stage chronic illnesses in an aging population, is leading to a demand in palliative care. Due to the ongoing need for acute-pain and symptom control in hospice/palliative care units, few are able to offer long-stay admission for those whose symptoms have stabilized. When a patient no longer requires specialist palliative care services, transfer from an inpatient palliative care facility may then be necessary. A core component of the role of palliative-care social workers involves working with patients and their families/carers when the care pathway shifts and the option of residential aged care facility (RACF) needs to be considered...
June 1, 2017: Journal of Social Work in End-of-life & Palliative Care
https://www.readbyqxmd.com/read/28567126/tacrine-trolox-and-tryptoline-as-lead-compounds-for-the-design-and-synthesis-of-multi-target-agents-for-alzheimer-s-disease-therapy
#14
Gerard A K Teponnou, Jacques Joubert, Sarel F Malan
The versatile biological activities of tacrine, trolox and β-carboline derivatives make them promising lead structures for the development of multifunctional Alzheimer's disease (AD) agents. Based on the topology of the active site of cholinesterases and other target proteins involved in the pathogenesis of AD, we have designed and synthesized tacrine-trolox and tacrine-tryptoline hybrids with various linker chain lengths. The hybrids containing the trolox moiety (8a-8d) showed moderate to high TcAChE inhibition (IC50: 17...
2017: Open Medicinal Chemistry Journal
https://www.readbyqxmd.com/read/28555322/assessment-of-airway-compression-on-chest-radiographs-in-children-with-pulmonary-tuberculosis
#15
Lisel Richter-Joubert, Savvas Andronikou, Lesley Workman, Heather J Zar
BACKGROUND: Because small, pliable paediatric airways are easily compressed by enlarged lymph nodes, detection of radiographic airway compression might be an objective criterion for diagnosing pulmonary tuberculosis. OBJECTIVE: To investigate the frequency and inter-observer agreement of airway compression on chest radiographs in children with pulmonary tuberculosis compared to those with a different lower respiratory tract infection. MATERIALS AND METHODS: Chest radiographs of children with suspected pulmonary tuberculosis were read by two readers according to a standardised format and a third reader when there was disagreement...
May 29, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28538572/intratendinous-injection-of-hydrogel-for-reseeding-decellularized-human-flexor-tendons
#16
Chao Long, Michael G Galvez, Anais Legrand, Lydia-Marie Joubert, Zhen Wang, Arhana Chattopadhyay, James Chang, Paige M Fox
BACKGROUND: Decellularized cadaveric tendons are a potential source for reconstruction. Reseeding to enhance healing is ideal; however, cells placed on the tendon surface result in inadequate delivery. The authors used an injection technique to evaluate intratendinous cell delivery. METHODS: Decellularized tendons were reseeded with adipose-derived stem cells in culture, and injected with fetal bovine serum or hydrogel. PKH26-stained cells in cross-section were quantified...
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28532824/puppy-survival-and-vigor-associated-with-the-use-of-low-dose-medetomidine-premedication-propofol-induction-and-maintenance-of-anesthesia-using-sevoflurane-gas-inhalation-for-cesarean-section-in-the-bitch
#17
K G M De Cramer, K E Joubert, J O Nöthling
The safety of an anesthetic protocol consisting of medetomidine hydrochloride (7 μg/kg iv) as premedicant, propofol, (1-2 mg/kg iv) as induction agent and sevoflurane, at 2% in oxygen for maintenance of anesthesia was studied in 292 cesarean sections (CSs) and 2232 puppies delivered. Medetomidine effects were reversed using atipamezole hydrochloride at 50 μg/puppy sc immediately following delivery and in the bitch iv immediately following surgery. The protocol's safety for puppies was expressed using survival immediately, 2 h and 7 d after delivery, and Apgar scores (measurement starting 15 min after delivery of the last puppy)...
July 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/28530592/thermal-stability-of-the-functional-ingredients-glucosylated-benzophenones-and-xanthones-of-honeybush-cyclopia-genistoides-in-an-aqueous-model-solution
#18
Theresa Beelders, Dalene de Beer, Daneel Ferreira, Martin Kidd, Elizabeth Joubert
Thermal stability of the benzophenones, 3-β-d-glucopyranosyl-4-β-d-glucopyranosyloxyiriflophenone (1), 3-β-d-glucopyranosylmaclurin (2) and 3-β-d-glucopyranosyliriflophenone (3), and the xanthones, mangiferin (4) and isomangiferin (5), was assessed separately in an aqueous model solution (pH 5) to delineate their major degradation products and mechanism(s). Degradation followed first-order reaction kinetics and the temperature-dependence of the respective reaction rate constants complied with the Arrhenius equation...
October 15, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28508964/tmem67-mutations-found-in-a-case-of-joubert-syndrome-with-renal-hypodysplasia
#19
Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kunimasa Yan
Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c...
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28506441/association-of-traumatic-brain-injury-and-alzheimer-disease-onset-a-systematic-review
#20
REVIEW
J Julien, S Joubert, M-C Ferland, L C Frenette, M M Boudreau-Duhaime, L Malo-Véronneau, E de Guise
BACKGROUND: Inconsistencies regarding the risk of developing Alzheimer disease after traumatic brain injury (TBI) remain in the literature. Indeed, why AD develops in certain TBI patients while others are unaffected is still unclear. OBJECTIVE: The aim of this study was to performed a systematic review to investigate whether certain variables related to TBI, such as TBI severity, loss of consciousness (LOC) and post-traumatic amnesia (PTA), are predictors of risk of AD in adults...
May 11, 2017: Annals of Physical and Rehabilitation Medicine
keyword
keyword
114700
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"