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https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#1
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28904388/protective-efficacy-of-phosphodiesterase-1-inhibition-against-alpha-synuclein-toxicity-revealed-by-compound-screening-in-luhmes-cells
#2
Matthias Höllerhage, Claudia Moebius, Johannes Melms, Wei-Hua Chiu, Joachim N Goebel, Tasnim Chakroun, Thomas Koeglsperger, Wolfgang H Oertel, Thomas W Rösler, Marc Bickle, Günter U Höglinger
α-synuclein-induced neurotoxicity is a core pathogenic event in neurodegenerative synucleinopathies such as Parkinson's disease, dementia with Lewy bodies, or multiple system atrophy. There is currently no disease-modifying therapy available for these diseases. We screened 1,600 FDA-approved drugs for their efficacy to protect LUHMES cells from degeneration induced by wild-type α-synuclein and identified dipyridamole, a non-selective phosphodiesterase inhibitor, as top hit. Systematic analysis of other phosphodiesterase inhibitors identified a specific phosphodiesterase 1 inhibitor as most potent to rescue from α-synuclein toxicity...
September 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#3
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#4
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
https://www.readbyqxmd.com/read/28640948/high-level-%C3%AE-iii-tubulin-overexpression-occurs-in-most-head-and-neck-cancers-but-is-unrelated-to-clinical-outcome
#5
Julie C Nienstedt, Alexander Gröbe, Till Clauditz, Ronald Simon, Adrian Muenscher, Rainald Knecht, Guido Sauter, Christoph Moebius, Marco Blessmann, Max Heiland, Christina Pflug
BACKGROUND: βIII-tubulin (TUBB3) is an isotype of microtubules, which are involved in crucial cellular roles including maintenance of cell shape, intracellular transport, and mitosis. Overexpression of TUBB3 was found to be associated with poor prognosis and resistance to tubulin-binding drugs and in several solid tumors including head and neck squamous cell carcinomas (HNSCC). Considering the potential high importance of a prognostic biomarker in these cancers, the present study aimed to investigate the clinical relevance of immunohistochemical TUBB3 expression in HNSCC...
June 22, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/28501945/macrophage-polarization-differs-between-apical-granulomas-radicular-cysts-and-dentigerous-cysts
#6
Manuel Weber, Tilo Schlittenbauer, Patrick Moebius, Maike Büttner-Herold, Jutta Ries, Raimund Preidl, Carol-Immanuel Geppert, Friedrich W Neukam, Falk Wehrhan
OBJECTIVES: Apical periodontitis can appear clinically as apical granulomas or radicular cysts. There is evidence that immunologic factors are involved in the pathogenesis of both pathologies. In contrast to radicular cysts, the dentigerous cysts have a developmental origin. Macrophage polarization (M1 vs M2) is a main regulator of tissue homeostasis and differentiation. There are no studies comparing macrophage polarization in apical granulomas, radicular cysts, and dentigerous cysts...
May 13, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28435528/discovery-of-highly-selective-inhibitors-of-the-immunoproteasome-low-molecular-mass-polypeptide-2-lmp2-subunit
#7
Henry W B Johnson, Janet L Anderl, Erin K Bradley, John Bui, Jeffrey Jones, Shirin Arastu-Kapur, Lisa M Kelly, Eric Lowe, David C Moebius, Tony Muchamuel, Christopher Kirk, Zhengping Wang, Dustin McMinn
Building upon the success of bortezomib (VELCADE) and carfilzomib (KYPROLIS), the design of a next generation of inhibitors targeting specific subunits within the immunoproteasome is of interest for the treatment of autoimmune disease. There are three catalytic subunits within the immunoproteasome (low molecular mass polypeptide-7, -2, and multicatalytic endopeptidase complex subunit-1; LMP7, LMP2, and MECL-1), and a campaign was undertaken to design a potent and selective LMP2 inhibitor with sufficient properties to allow for sustained inhibition in vivo...
April 13, 2017: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28434583/a-proposal-for-new-neurorehabilitative-intervention-on-moebius-syndrome-patients-after-smile-surgery-proof-of-concept-based-on-mirror-neuron-system-properties-and-hand-mouth-synergistic-activity
#8
REVIEW
Pier Francesco Ferrari, Anna Barbot, Bernardo Bianchi, Andrea Ferri, Gioacchino Garofalo, Nicola Bruno, Gino Coudé, Chiara Bertolini, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, Elisa De Stefani
Studies of the last twenty years on the motor and premotor cortices of primates demonstrated that the motor system is involved in the control and initiation of movements, and in higher cognitive processes, such as action understanding, imitation, and empathy. Mirror neurons are only one example of such theoretical shift. Their properties demonstrate that motor and sensory processing are coupled in the brain. Such knowledge has been also central for designing new neurorehabilitative therapies for patients suffering from brain injuries and consequent motor deficits...
May 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28409036/pre-and-postsurgical-orthodontics-in-patients-with-moebius-syndrome
#9
Marisabel Magnifico, Diana Cassi, Ilda Kasa, Marco Di Blasio, Alberto Di Blasio, Mauro Gandolfini
The authors report a combined orthodontic-surgical correction of an adult patient's malocclusion affected by Moebius Syndrome (MS). The treatment was conducted at the Dentistry Unit and the Maxillofacial Surgery Unit of the University Hospital of Parma. Treatment of malocclusion was performed after the correction of facial mimic mobility with smile surgery. The postoperative stability and orthodontic results were good and the correction of the morphological problems related to the syndrome was very satisfactory...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28407536/-rare-place-where-i-feel-normal-perceptions-of-a-social-support-conference-among-parents-of-and-people-with-moebius-syndrome
#10
Kathleen R Bogart, Erika Frandrup, Taylor Locke, Hanna Thompson, Natalie Weber, Jacqueline Yates, Nicholas Zike, Amanda R Hemmesch
BACKGROUND: Moebius syndrome is a rare congenital disorder resulting in impaired facial and eye movement. People with rare diseases like Moebius syndrome experience stigma and a lack of specialized information. Support conferences may provide important forms of social support for people with rare disorders. AIMS: To examine reasons for attending, benefits, and limitations of support conferences. METHODS AND PROCEDURES: 50 adults with Moebius syndrome and 57 parents of people with Moebius syndrome completed open-ended items in an online study...
April 10, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28380574/dynamic-model-improves-agronomic-and-environmental-outcomes-for-maize-nitrogen-management-over-static-approach
#11
Shai Sela, Harold M van Es, Bianca N Moebius-Clune, Rebecca Marjerison, Daniel Moebius-Clune, Robert Schindelbeck, Keith Severson, Eric Young
Large temporal and spatial variability in soil nitrogen (N) availability leads many farmers across the United States to over-apply N fertilizers in maize ( L.) production environments, often resulting in large environmental N losses. Static Stanford-type N recommendation tools are typically promoted in the United States, but new dynamic model-based decision tools allow for highly adaptive N recommendations that account for specific production environments and conditions. This study compares the Corn N Calculator (CNC), a static N recommendation tool for New York, to Adapt-N, a dynamic simulation tool that combines soil, crop, and management information with real-time weather data to estimate optimum N application rates for maize...
March 2017: Journal of Environmental Quality
https://www.readbyqxmd.com/read/28365078/macrophage-and-osteoclast-polarization-in-bisphosphonate-associated-necrosis-and-osteoradionecrosis
#12
Falk Wehrhan, Patrick Moebius, Kerstin Amann, Jutta Ries, Raimund Preidl, Friedrich W Neukam, Manuel Weber
PURPOSE: Bisphosphonate-related osteonecrosis of the jaw (BRONJ) is a complication of antiresorptive therapy with nitrogen-containing bisphosphonates (BP). With various suggestions as to pathogenesis, the etiology of BRONJ is not sufficiently understood. Osteoclasts and their precursors, that is, macrophages, are the main target cells of BP. BP can repolarize regeneration- and healing-associated M2 macrophages towards the tissue destructive M1-type. The current study aims to elucidate differences in macrophage and osteoclast polarization in BRONJ, osteoradionecrosis (ORN) and healthy control specimens...
March 1, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28299356/an-exome-sequencing-study-of-moebius-syndrome-including-atypical-cases-reveals-an-individual-with-cfeom3a-and-a-tubb3-mutation
#13
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, Shalini Jhangiani, James T Lu, V Reid Sutton, Susan D Fernbach, Mahshid Azamian, Lisa White, Jane C Edmond, Evelyn A Paysse, John W Belmont, Donna Muzny, James R Lupski, Richard A Gibbs, Richard Alan Lewis, Brendan H Lee, Seema R Lalani, Philippe M Campeau
Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown...
March 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28218603/frequency-and-clinical-course-of-cerebral-embolism-in-patients-undergoing-transcatheter-left-atrial-appendage-closure
#14
Nicolas Majunke, Franziska Eplinius, Matthias Gutberlet, Sven Moebius-Winkler, Ingo Daehnert, Matthias Grothoff, Stephan Schürer, Norman Mangner, Philipp Lurz, Sandra Erbs, Katharina Kirsch, Gerhard Schuler, Marcus Sandri
AIMS: To assess silent and clinically apparent cerebral embolic events in patients undergoing transcatheter left atrial appendage closure. METHODS AND RESULTS: In this prospective single-center study 28 patients underwent percutaneous closure of the left atrial appendage. In all patients a diffusion-weighted magnetic resonance imaging (DWI-MRI) study was performed before, the day after the procedure and during routine follow-up after 45 days. All patients underwent neurological assessment at the time of DWI-MRI...
February 21, 2017: EuroIntervention
https://www.readbyqxmd.com/read/28196268/three-cases-of-exotropic-moebius-syndrome
#15
Abbas Bagheri, Mohaddese Feizi
Moebius syndrome is characterized by congenital facial palsy and limitation in horizontal gaze. The surgical results of the exotropic pattern are rare and have not been published before. The authors report three cases of exotropic Moebius syndrome. Maximal weakening of the lateral rectus muscles followed by strengthening of the medial recti in exotropic Moebius syndrome can improve exotropia significantly. Most of these cases also need some measures to relieve the often associated severe dry eye. [J Pediatr Ophthalmol Strabismus...
February 14, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28061881/moebius-sequence-a-multidisciplinary-clinical-approach
#16
Line Kjeldgaard Pedersen, Rikke Damkjær Maimburg, Jens Michael Hertz, Hans Gjørup, Thomas Klit Pedersen, Bjarne Møller-Madsen, John Rosendahl Østergaard
BACKGROUND: Moebius Sequence (MS) is a rare disorder defined by bilateral congenital paralysis of the abducens and facial nerves in combination with various odontological, craniofacial, ophthalmological and orthopaedic conditions. The aetiology is still unknown; but both genetic (de novo mutations) and vascular events in utero are reported. The purpose of present study was through a multidisciplinary clinical approach to examine children diagnosed with Moebius-like symptoms. Ten children underwent odontological, ophthalmological, obstetric, paediatric, orthopaedic, genetic, radiological and photographical evaluation...
January 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27863809/efficacy-and-safety-of-tau-aggregation-inhibitor-therapy-in-patients-with-mild-or-moderate-alzheimer-s-disease-a-randomised-controlled-double-blind-parallel-arm-phase-3-trial
#17
RANDOMIZED CONTROLLED TRIAL
Serge Gauthier, Howard H Feldman, Lon S Schneider, Gordon K Wilcock, Giovanni B Frisoni, Jiri H Hardlund, Hans J Moebius, Peter Bentham, Karin A Kook, Damon J Wischik, Bjoern O Schelter, Charles S Davis, Roger T Staff, Luc Bracoud, Kohkan Shamsi, John M D Storey, Charles R Harrington, Claude M Wischik
BACKGROUND: Leuco-methylthioninium bis(hydromethanesulfonate; LMTM), a stable reduced form of the methylthioninium moiety, acts as a selective inhibitor of tau protein aggregation both in vitro and in transgenic mouse models. Methylthioninium chloride has previously shown potential efficacy as monotherapy in patients with Alzheimer's disease. We aimed to determine whether LMTM was safe and effective in modifying disease progression in patients with mild to moderate Alzheimer's disease...
December 10, 2016: Lancet
https://www.readbyqxmd.com/read/27729154/enhancing-surgical-outcomes-the-effects-of-speech-therapy-on-a-school-aged-girl-with-moebius-syndrome
#18
Elizabeth Fairgray, Anna Miles
PURPOSE: Moebius Syndrome is a rare congenital neurological condition often characterized by multiple cranial nerve involvement. This case study presents an eight-year old girl with Moebius Syndrome (MC) who received 30 sessions of speech therapy. This occurred after presenting to clinic 11 months after left facial reanimation with gracilis thigh muscle transfer surgery. On examination, only flickers of left facial movement were observed. There was no movement on the right side of the face...
November 2016: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27444451/cd151-expression-is-frequent-but-unrelated-to-clinical-outcome-in-head-and-neck-cancer
#19
Julie C Nienstedt, Alexander Gröbe, Patrick Lebok, Franziska Büscheck, Till Clauditz, Ronald Simon, Asmus Heumann, Guido Sauter, Christoph Moebius, Adrian Münscher, Rainald Knecht, Marco Blessmann, Max Heiland, Christina Pflug
OBJECTIVES: CD151 is a plasma membrane protein belonging to the tetraspanin family. CD151 represents a putative therapeutic target and has been suggested as a prognostic marker in several cancer types. The present study aims to investigate the prognostic relevance of immunohistochemical CD151 expression in head and neck squamous cell carcinoma (HNSCC). MATERIALS AND METHODS: Tissue microarray (TMA) sections containing samples from 667 cancers of oral cavity, oro- and hypopharynx and larynx, for which follow-up data were available, were analyzed for CD151 expression by immunohistochemistry...
June 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27307336/bilateral-facial-paralysis-a-13-year-experience
#20
Robert A Gaudin, Nathan Jowett, Caroline A Banks, Christopher J Knox, Tessa A Hadlock
BACKGROUND: Bilateral facial palsy is a rare clinical entity caused by myriad disparate conditions requiring different treatment paradigms. Lyme disease, Guillain-Barré syndrome, and leukemia are several examples. In this article, the authors describe the cause, the initial diagnostic approach, and the management of long-term sequelae of bilateral paralysis that has evolved in the authors' center over the past 13 years. METHODS: A chart review was performed to identify all patients diagnosed with bilateral paralysis at the authors' center between January of 2002 and January of 2015...
October 2016: Plastic and Reconstructive Surgery
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