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https://www.readbyqxmd.com/read/28816198/lingual-frenectomy-in-joubert-syndrome
#1
Vivek Gurjar, Minal Gurjar, Channaveer Pattanshetti, Banashree Sankeshwari
AIM: Our aim is to present a case of a rare disorder, such as Joubert syndrome (JS) which required oral surgical intervention under general anesthesia at a very young age to help in achieving normal developmental milestones. BACKGROUND: Ciliopathies are an emerging class of diseases of which JS is a significant member. There have been very few cases of JS with its distinguishing features which have been reported in recent literature. CASE REPORT: We herewith present a case of JS who reported to our unit with a complaint of speech abnormality...
August 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28810773/geometric-phase-effects-in-excited-state-dynamics-through-a-conical-intersection-in-large-molecules-n-dimensional-linear-vibronic-coupling-model-study
#2
Jiaru Li, Loïc Joubert-Doriol, Artur F Izmaylov
We investigate geometric phase (GP) effects in nonadiabatic transitions through a conical intersection (CI) in an N-dimensional linear vibronic coupling (ND-LVC) model. This model allows for the coordinate transformation encompassing all nonadiabatic effects within a two-dimensional (2D) subsystem, while the other N - 2 dimensions form a system of uncoupled harmonic oscillators identical for both electronic states and coupled bi-linearly with the subsystem coordinates. The 2D subsystem governs ultra-fast nonadiabatic dynamics through the CI and provides a convenient model for studying GP effects...
August 14, 2017: Journal of Chemical Physics
https://www.readbyqxmd.com/read/28799313/joubert-syndrome-associated-with-seizures
#3
K Mugundhan, M C Vasif Mayan, P D Nidhin, G Loganathan, N Balamurugan
No abstract text is available yet for this article.
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28796425/comparison-of-stroke-volume-measurements-during-hemodialysis-using-bioimpedance-cardiography-and-echocardiography
#4
Michael J Germain, Jyovani Joubert, Daniel O'Grady, Brian H Nathanson, Yossi Chait, Nathan W Levin
BACKGROUND: Fluid management remains a major challenge of hemodialysis (HD) care, with serious implications for morbidity and mortality. Intradialytic fluid management is typically guided by blood pressure, an indirect resultant of hemodynamics status. Direct measurements of hemodynamic parameters may improve cardiovascular outcomes by providing rational bases for intervention. We compare stroke volume (SV) measurements using a noninvasive, regional biompedance cardiography device (NiCaS) with Doppler echocardiography (Echo) in HD setting...
August 10, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28777677/my-kite-will-fly-improving-communication-and-understanding-in-young-children-when-a-mother-is-diagnosed-with-life-threatening-gynecological-cancer
#5
Cynthia Holland, Alison Hocking, Lynette Joubert, Fiona McDermott, Marcus D Niski, Frances Thomson Salo, Michael A Quinn
STUDY AIMS: The My Kite Will Fly (MKWF) research program is built on the well-documented need for effective clinical communication tools and therapeutic interventions where a child's mother is diagnosed with life-threatening gynecological cancer. METHODS: The Dignity Model and Child-Centered approach were two key study foundations in this pilot cohort. Quantitative survey and qualitative semistructured methods were employed to gather data from patient families at three distinct phases: Diagnosis, Treatment, and Palliative care...
August 4, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/28771248/interpreting-the-clinical-significance-of-combined-variants-in-multiple-recessive-disease-genes-systematic-investigation-of-joubert-syndrome-yields-little-support-for-oligogenicity
#6
Ian G Phelps, Jennifer C Dempsey, Megan E Grout, Christine R Isabella, Hannah M Tully, Dan Doherty, Ruxandra Bachmann-Gagescu
PurposeNext-generation sequencing (NGS) often identifies multiple rare predicted-deleterious variants (RDVs) in different genes associated with a recessive disorder in a given patient. Such variants have been proposed to contribute to digenicity/oligogenicity or "triallelism" or to act as genetic modifiers.MethodsUsing the recessive ciliopathy Joubert syndrome (JBTS) as a model, we investigated these possibilities systematically, relying on NGS of known JBTS genes in a large JBTS and two control cohorts.Results65% of affected individuals had a recessive genetic cause, while 4...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28751730/test-retest-reproducibility-of-cardiac-magnetic-resonance-imaging-in-healthy-mice-at-7-tesla-effect-of-anesthetic-procedures
#7
Michael Joubert, Pia Tager, Damien Legallois, Estelle Defourneaux, Bastien Le Guellec, Bernhard Gerber, Remy Morello, Alain Manrique
Cardiac magnetic resonance (CMR) has emerged as a powerful tool for in vivo assessments of cardiac parameters in experimental animal models of cardiovascular diseases, but its reproducibility in this setting remains poorly explored. To address this issue, we investigated the test-retest reproducibility of preclinical cardiac magnetic resonance imaging (CMR) at 7 Tesla in healthy C57BL/6 mice, including an analysis of the impact of different anesthetic procedures (isoflurane or pentobarbital). We also analyzed the intra-study reproducibility and the intra- and inter-observer post-processing reproducibility of CMR images...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28730063/community-stakeholders-perspectives-on-the-role-of-occupational-therapy-in-primary-healthcare-implications-for-practice
#8
Deshini Naidoo, Jacqueline Van Wyk, Robin Joubert
BACKGROUND: Primary healthcare (PHC) is central to increased access and transformation in South African healthcare. There is limited literature about services required by occupational therapists in PHC. Despite policy being in place, the implementation of services at grassroots level does not always occur adequately. OBJECTIVES: This study aimed at gaining an understanding of the challenges of being disabled and the services required by occupational therapists (OTs) in rural communities in order to better inform the occupational therapy (OT) training curriculum...
2017: Afr J Disabil
https://www.readbyqxmd.com/read/28726664/expanded-phenotype-of-tmem67-gene-mutation-case-report
#9
T Tkemaladze, G Melikishvili, V Kherkheulidze, A Melikishvili, T Davitaia
Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types. Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known to be associated with a broad range of clinical presentations, namely Joubert syndrome 6 (JBTS6), nephronophthisis 11 (NPHP11), Bardet-Biedel syndrome (BBS), COACH syndrome, and lethal Meckel syndrome type 3 (MKS3)...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28721821/current-perspectives-for-the-use-of-gonane-progesteronergic-drugs-in-the-treatment-of-central-hypoventilation-syndromes
#10
Camille Loiseau, Florence Cayetanot, Fanny Joubert, Anne-Sophie Perrin-Terrin, Philippe Cardot, Marie-Noëlle Fiamma, Alain Frugiere, Christian Straus, Laurence Bodineau
BACKGROUND: Central alveolar hypoventilation syndromes (CHS) encompass neurorespiratory diseases resulting from congenital or acquired neurological disorders. Hypercapnia, acidosis, and hypoxemia resulting from CHS negatively affect physiological functions and can be life-threatening. To date, the absence of pharmacological treatment implies that the patients must receive assisted ventilation throughout their lives. OBJECTIVE: To highlight the relevance of determining conditions in which using gonane synthetic progestins could be of potential clinical interest for the treatment of CHS...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#11
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28715585/retinoic-acid-engineered-amniotic-membrane-used-as-graft-or-homogenate-positive-effects-on-corneal-alkali-burns
#12
Romain Joubert, Estelle Daniel, Nicolas Bonnin, Aurélie Comptour, Christelle Gross, Corinne Belville, Frédéric Chiambaretta, Loïc Blanchon, Vincent Sapin
Purpose: Alkali burns are the most common, severe chemical ocular injuries, their functional prognosis depending on corneal wound healing efficiency. The purpose of our study was to compare the benefits of amniotic membrane (AM) grafts and homogenates for wound healing in the presence or absence of previous all-trans retinoic acid (atRA) treatment. Methods: Fifty male CD1 mice with reproducible corneal chemical burn were divided into five groups, as follows: group 1 was treated with saline solution; groups 2 and 3 received untreated AM grafts or grafts treated with atRA, respectively; and groups 4 and 5 received untreated AM homogenates or homogenates treated with atRA, respectively...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28702068/hyperglycemia-induced-oxidative-stress-and-heart-disease-cardioprotective-effects-of-rooibos-flavonoids-and-phenylpyruvic-acid-2-o-%C3%AE-d-glucoside
#13
REVIEW
Phiwayinkosi V Dludla, Elizabeth Joubert, Christo J F Muller, Johan Louw, Rabia Johnson
Diabetic patients are at an increased risk of developing heart failure when compared to their non-diabetic counter parts. Accumulative evidence suggests chronic hyperglycemia to be central in the development of myocardial infarction in these patients. At present, there are limited therapies aimed at specifically protecting the diabetic heart at risk from hyperglycemia-induced injury. Oxidative stress, through over production of free radical species, has been hypothesized to alter mitochondrial function and abnormally augment the activity of the NADPH oxidase enzyme system resulting in accelerated myocardial injury within a diabetic state...
2017: Nutrition & Metabolism
https://www.readbyqxmd.com/read/28700940/in%C3%A2-vitro-modeling-using-ciliopathy-patient-derived-cells-reveals-distinct-cilia-dysfunctions-caused-by-cep290-mutations
#14
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A English, Elizabeth M Semler, Jacklyn Mahgerefteh, Artur V Cideciyan, Tiansen Li, Brian P Brooks, Meral Gunay-Aygun, Samuel G Jacobson, Tiziana Cogliati, Christopher J Westlake, Anand Swaroop
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD). We examined cilia biogenesis and function in cells derived from CEP290-LCA and CEP290-JSRD patients. CEP290 protein was reduced in LCA fibroblasts with no detectable impact on cilia; however, optic cups derived from induced pluripotent stem cells (iPSCs) of CEP290-LCA patients displayed less developed photoreceptor cilia. Lack of CEP290 in JSRD fibroblasts resulted in abnormal cilia and decreased ciliogenesis...
July 11, 2017: Cell Reports
https://www.readbyqxmd.com/read/28696101/systematic-first-principles-study-of-binary-metal-hydrides
#15
Natacha Bourgeois, Jean-Claude Crivello, Pierre Cenedese, Jean-Marc Joubert
First-principles calculations were systematically performed for 31 binary metal-hydrogen (M-H) systems on a set of 30 potential crystal structures selected on the basis of experimental data and possible interstitial sites. For each M-H system, the calculated enthalpies of formation were represented as functions of H composition. The zero-point energy correction was considered for the most stable hydrides via additional harmonic phonon calculations. The sequence of stable hydrides (ground-state) given by the convex hull was found in satisfactory agreement with the experimental data...
July 25, 2017: ACS Combinatorial Science
https://www.readbyqxmd.com/read/28695576/mechanical-ventilation-and-extracorporeal-membrane-oxygenation-as-a-bridging-strategy-to-lung-transplantation-significant-gains-in-survival
#16
Awori J Hayanga, Angela L Du, Kyla Joubert, Tuft Marie, Rachel Baird, Joseph Pilewski, Mathew Morrell, Jonathan D'Cunha, Norihisa Shigemura
Mechanical ventilation (MV) and extracorporeal membrane oxygenation (ECMO) are increasingly used to bridge patients to lung transplantation. We investigated the impact of using MV, with or without ECMO, prior to lung transplantation on survival after transplantation by performing a retrospective analysis of 826 patients who underwent transplantation at our high-volume center. Recipient characteristics and posttransplant outcomes were analyzed. Most lung transplant recipients (729 patients) did not require bridging; 194 of these patients were propensity matched with patients who were bridged using MV alone (48 patients) or MV and ECMO (49 patients)...
July 11, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28688632/ecmo-support-in-lung-transplantation-a-contemporary-analysis-of-hospital-charges-in-the-united-states
#17
J W Awori Hayanga, Norihisa Shigemura, Jonathan K Aboagye, Chris Ensor, Mary Amanda Dew, Heather K Hayanga, Stephen A Esper, Kyla Joubert, Matthew R Morrell, Jonathan D'Cunha
BACKGROUND: There is little in the literature pertaining to cost associated with the use of extracorporeal membrane oxygenation (ECMO) in lung transplantation. We sought to evaluate charges associated with the index hospitalization among recipients of a lung transplant who required ECMO to identify factors that increase hospital charges in these patients. METHODS: With the use of the Nationwide Inpatient Sample, we reviewed data pertaining to patients who received a lung transplant between 2000 and 2011 and stratified them into ECMO and non-ECMO groups based on use of ECMO...
July 6, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28684216/evaluation-of-dna-damage-in-wistar-rat-tissues-with-hyperlipidemia-induced-by-tyloxapol
#18
Joubert Aires de Sousa, Patrícia Pereira, Mariangela da Costa Allgayer, Norma Possa Marroni, Alexandre de Barros Falcão Ferraz, Jaqueline Nascimento Picada
Hyperlipidemia is characterized by high levels of plasma triglycerides and LDL-cholesterol, accompanied by reduced HDL-cholesterol levels, and is often associated with an increased risk of cardiovascular diseases. However, few studies have shown the effects of hyperlipidemia on genomic stability. The aim of this study was to evaluate DNA damage provided by tyloxapol induced hyperlipidemia. Tyloxapol, a non-ionic surfactant, which increases the activity of the enzyme HMG-CoA reductase and decreases clearance of lipoproteins, was used to induce hyperlipidemia in Wistar rats...
July 3, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28682058/revealing-the-cell-material-interface-with-nanometer-resolution-by-focused-ion-beam-scanning-electron-microscopy
#19
Francesca Santoro, Wenting Zhao, Lydia-Marie Joubert, Liting Duan, Jan Schnitker, Yoeri van de Burgt, Hsin-Ya Lou, Bofei Liu, Alberto Salleo, Lifeng Cui, Yi Cui, Bianxiao Cui
The interface between cells and nonbiological surfaces regulates cell attachment, chronic tissue responses, and ultimately the success of medical implants or biosensors. Clinical and laboratory studies show that topological features of the surface profoundly influence cellular responses; for example, titanium surfaces with nano- and microtopographical structures enhance osteoblast attachment and host-implant integration as compared to a smooth surface. To understand how cells and tissues respond to different topographical features, it is of critical importance to directly visualize the cell-material interface at the relevant nanometer length scale...
July 21, 2017: ACS Nano
https://www.readbyqxmd.com/read/28680603/isolated-congenital-hepatic-fibrosis-associated-with-tmem67-mutations-report-of-a-new-genotype-phenotype-relationship
#20
Ida Vogel, Peter Ott, Dorte Lildballe, Stephen Hamilton-Dutoit, Hendrik Vilstrup, Henning Grønbæk
We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.
July 2017: Clinical Case Reports
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