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https://www.readbyqxmd.com/read/29441222/disability-related-problems-of-children-and-adolescents-with-moebius-sequence-and-their-mothers-coping
#1
Wolfgang Briegel
No abstract text is available yet for this article.
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29424937/pathogenesis-of-cranial-neuropathies-in-moebius-syndrome-electrodiagnostic-orofacial-studies
#2
Francis Renault, Roberto Flores-Guevara, Bernard Sergent, Jean Jacques Baudon, Jessie Aouizerate, Marie-Paule Vazquez, Cyril Gitiaux
INTRODUCTION: We designed a retrospective study of 59 patients with congenital sporadic non-progressive bilateral facial and abducens palsies. METHODS: Examinations included needle EMG of facial and oral muscles, facial nerve motor latency and conduction velocity (FNCV), and blink responses (BRs). RESULTS: Neurogenic EMG changes were found in one or more muscles in 55/59 patients, with no abnormal spontaneous activity. EMG changes were homogeneously neurogenic in 17 patients, homogeneously myopathic in one, and heterogeneous in 41/59 patients...
February 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29358088/isogenic-fus-egfp-ipsc-reporter-lines-enable-quantification-of-fus-stress-granule-pathology-that-is-rescued-by-drugs-inducing-autophagy
#3
Lara Marrone, Ina Poser, Ian Casci, Julia Japtok, Peter Reinhardt, Antje Janosch, Cordula Andree, Hyun O Lee, Claudia Moebius, Ellen Koerner, Lydia Reinhardt, Maria Elena Cicardi, Karl Hackmann, Barbara Klink, Angelo Poletti, Simon Alberti, Marc Bickle, Andreas Hermann, Udai Pandey, Anthony A Hyman, Jared L Sterneckert
Perturbations in stress granule (SG) dynamics may be at the core of amyotrophic lateral sclerosis (ALS). Since SGs are membraneless compartments, modeling their dynamics in human motor neurons has been challenging, thus hindering the identification of effective therapeutics. Here, we report the generation of isogenic induced pluripotent stem cells carrying wild-type and P525L FUS-eGFP. We demonstrate that FUS-eGFP is recruited into SGs and that P525L profoundly alters their dynamics. With a screening campaign, we demonstrate that PI3K/AKT/mTOR pathway inhibition increases autophagy and ameliorates SG phenotypes linked to P525L FUS by reducing FUS-eGFP recruitment into SGs...
January 17, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29356035/an-interesting-case-of-systemic-lupus-erythematosus-in-a-patient-with-moebius-syndrome
#4
Jefferson da Rocha Tenorio, Marília Andrade Figueiredo, Aline Espindula, Marina Gallottini, Karem López Ortega
Moebius' syndrome (MS) is characterized by a nonprogressive facial palsy associated with impairment in eye abduction, which can be uni- or bilateral. Some authors raise the possibility that patients with MS may suffer from social stigmatism due to their facial dysmorphism and that constant teasing and bullying perpetrated by people in the same social circle are adjuvants in the development of low self-esteem, behavioral problems, and even psychiatric disorders. Psychological stress, anxiety, and depression are factors contributing to both development and impairment of autoimmune diseases, such as systemic lupus erythematosus (SLE)...
January 22, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29289389/tubb3-e410k-syndrome-with-osteoporosis-and-cough-syncope-in-a-patient-previously-diagnosed-with-atypical-moebius-syndrome
#5
Yasuko Nakamura, Hiroshi Matsumoto, Kiyotaka Zaha, Kenji Uematsu, Shigeaki Nonoyama
BACKGROUND: A heterozygous c.1228G > A p.E410K mutation in TUBB3 encoding neuronal-specific β-tubulin isotype 3 causes TUBB3 E410K syndrome, which exhibits a wide range of neurological and endocrinological abnormalities. CASE DESCRIPTION: The patient is a 31-year-old Japanese woman who was diagnosed with atypical Moebius syndrome because of congenital facial weakness and extraocular ophthalmoplegia sparing abduction. She suffered a femoral neck fracture at 23 years of age, and radiological and endocrinological studies revealed osteoporosis because of hypogonadotropic hypogonadism...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29284429/galectin-3-expression-in-primary-oral-squamous-cell-carcinomas
#6
Manuel Weber, Maike Büttner-Herold, Luitpold Distel, Jutta Ries, Patrick Moebius, Raimund Preidl, Carol I Geppert, Friedrich W Neukam, Falk Wehrhan
BACKGROUND: Immunologic factors can promote the progression of oral squamous cell carcinomas (oscc). The phylogenetic highly conserved protein Galectin 3 (Gal3) contributes to cell differentiation and immune homeostasis. There is evidence that Gal3 is involved in the progression of oscc and influences the regulation of macrophage polarization. Macrophage polarization (M1 vs. M2) in solid malignancies like oscc contributes to tumor immune-escape. However, the relationship between macrophage polarization and Gal3 expression in oscc is not yet understood...
December 29, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29250664/morphological-changes-in-support-mechanism-of-superficial-face-layers-in-moebius-syndrome
#7
Marius Valeriu Hînganu, Cristinel Ionel Stan, Traian Ţăranu, Delia Hînganu
Moebius syndrome, also called congenital facial paralysis is a rare neurological disease, whose etiology is not fully elucidated. It affects especially facial and oculomotor cranial nerves and its clinical feature is peripheral facial paralysis. The objective of the study is to highlight the anatomical and functional changes in the Moebius syndrome and establish certain criteria that should be the basis for reparative surgery in this disease. For this purpose, we used a group of six patients diagnosed with this pathology, in whom we pursued functional anatomical and histological changes of the superficial layers of the face that we have grouped in terms of their clinical impact...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29216694/-evidence-level-and-grade-of-recommendation-of-the-ponseti-method-for-arthrogryposis-related-syndromic-talipes-equinovarus-and-moebius-syndrome-a-systematic-review
#8
J J Guerra-Jasso, J A Valcarce-León, H M Quíntela-Núñez-Del Prado
BACKGROUND: Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome...
July 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/29154277/potential-of-low-dose-leuco-methylthioninium-bis-hydromethanesulphonate-lmtm-monotherapy-for-treatment-of-mild-alzheimer-s-disease-cohort-analysis-as-modified-primary-outcome-in-a-phase-iii-clinical-trial
#9
Gordon K Wilcock, Serge Gauthier, Giovanni B Frisoni, Jianping Jia, Jiri H Hardlund, Hans J Moebius, Peter Bentham, Karin A Kook, Bjoern O Schelter, Damon J Wischik, Charles S Davis, Roger T Staff, Vesna Vuksanovic, Trevor Ahearn, Luc Bracoud, Kohkan Shamsi, Ken Marek, John Seibyl, Gernot Riedel, John M D Storey, Charles R Harrington, Claude M Wischik
BACKGROUND: LMTM is being developed as a treatment for AD based on inhibition of tau aggregation. OBJECTIVES: To examine the efficacy of LMTM as monotherapy in non-randomized cohort analyses as modified primary outcomes in an 18-month Phase III trial in mild AD. METHODS: Mild AD patients (n = 800) were randomly assigned to 100 mg twice a day or 4 mg twice a day. Prior to unblinding, the Statistical Analysis Plan was revised to compare the 100 mg twice a day as monotherapy subgroup (n = 79) versus 4 mg twice a day as randomized (n = 396), and 4 mg twice a day as monotherapy (n = 76) versus 4 mg twice a day as add-on therapy (n = 297), with strong control of family-wise type I error...
November 17, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29098745/prosthodontic-management-of-a-patient-with-moebius-syndrome-a-clinical-report
#10
Ahmed Mahrous, Ghadeer Thalji
Moebius/Mӧbius Syndrome (MS) is an extremely rare congenital disorder characterized by uni- or bilateral palsy of the abducens (VI) and the facial (VII) nerves, causing facial paralysis. Dysfunction of cranial nerves III through XII is common, most often the glossopharyngeal (IX) and hypoglossus (XII). Afflicted individuals seeking prosthodontic care, particularly removable prosthetics, present multiple challenges related to inherent facial and tongue muscle weakness and microstomia. Other extraoral anomalies may include congenital multiple arthrogryposis and malformations of the upper and lower limbs...
November 3, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
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
#11
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
#12
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
#13
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
#14
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
#15
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, this 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
#16
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
#17
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
#18
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
#19
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
#20
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
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