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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
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...
July 21, 2016: Clinical Oral Investigations
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
Ivana Budić, Dušan Šurdilović, Anđelka Slavković, Vesna Marjanović, Marija Stević, Dušica Simić
Moebius syndrome is a rare nonprogressive congenital neurological disorder with a wide range of severity and variability of symptoms. This diversity is a consequence of dysfunction of different cranial nerves (most often facial and abducens nerves), accompanying orofacial abnormalities, musculoskeletal malformations, congenital cardiac diseases, as well as specific associations of Moebius and other syndromes. The authors present anesthesia and airway management during the multiple tooth extraction surgery in a 10-year-old girl with Moebius syndrome associated with Poland and trigeminal trophic syndromes...
March 2016: Acta Clinica Croatica
Odoardo Picciolini, Matteo Porro, Elisa Cattaneo, Silvia Castelletti, Giuseppe Masera, Fabio Mosca, Maria Francesca Bedeschi
BACKGROUND: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS...
2016: Italian Journal of Pediatrics
Martina Pasetti, Fabio Mazzoleni, Giorgio Novelli, Maria Iascone, Alberto Bozzetti, Angelo Selicorni
The Carey-Finema-Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non-progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene...
August 2016: American Journal of Medical Genetics. Part A
Preeti Patil-Chhablani, Sowmya Murthy, Meenakshi Swaminathan
BACKGROUND: Facial nerve palsy (FNP) occurs less frequently in children as compared to adults but most cases are secondary to an identifiable cause. These children may have a variety of ocular and systemic features associated with the palsy and need detailed ophthalmic and systemic evaluation. METHODS: This was a retrospective chart review of all the cases of FNP below the age of 16 years, presenting to a tertiary ophthalmic hospital over the period of 9 years, from January 2000 to December 2008...
December 2015: Eye Science
F Renault, B Sergent, V Charpillet, C Gitiaux, M-P Vazquez
BACKGROUND/OBJECTIVES: Temporalis muscle lengthening myoplasty improves tightening of the lips and rehabilitates smile for patients with congenital facial palsies. Because Moebius syndrome is heterogeneous, a careful evaluation is mandatory before deciding to perform myoplasty. This series shows the role of electromyography for investigating temporalis muscle and trigeminal nerve motor functions. METHODS: We conducted a retrospective study of 18 patients with no upward movements of the labial commissure and absent or unsightly smile...
May 19, 2016: Annales de Chirurgie Plastique et Esthétique
Michael G Moebius, Felipe Herrera, Sarah Griesse-Nascimento, Orad Reshef, Christopher C Evans, Gian Giacomo Guerreschi, Alán Aspuru-Guzik, Eric Mazur
Generation of entangled photons in nonlinear media constitutes a basic building block of modern photonic quantum technology. Current optical materials are severely limited in their ability to produce three or more entangled photons in a single event due to weak nonlinearities and challenges achieving phase-matching. We use integrated nanophotonics to enhance nonlinear interactions and develop protocols to design multimode waveguides that enable sustained phase-matching for third-order spontaneous parametric down-conversion (TOSPDC)...
May 2, 2016: Optics Express
Justus Koerfer, Sonja Kallendrusch, Felicitas Merz, Christian Wittekind, Christoph Kubick, Woubet T Kassahun, Guido Schumacher, Christian Moebius, Nikolaus Gaßler, Nikolas Schopow, Daniela Geister, Volker Wiechmann, Arved Weimann, Christian Eckmann, Achim Aigner, Ingo Bechmann, Florian Lordick
Gastric and esophagogastric junction cancers are heterogeneous and aggressive tumors with an unpredictable response to cytotoxic treatment. New methods allowing for the analysis of drug resistance are needed. Here, we describe a novel technique by which human tumor specimens can be cultured ex vivo, preserving parts of the natural cancer microenvironment. Using a tissue chopper, fresh surgical tissue samples were cut in 400 μm slices and cultivated in 6-well plates for up to 6 days. The slices were processed for routine histopathology and immunohistochemistry...
July 2016: Cancer Medicine
Maria Carolina Martins Mussi, Eduardo Moffa, Talita Castro, Adriana Lira Ortega, Gabrielle Freitas, Mariana Braga, Walter L Siqueira, Marina Helena Cury Gallottini
PURPOSE: To evaluate salivary characteristics, such as flow rate, buffering capacity and amylase activity, and associate these parameters with oral health in individuals with Moebius syndrome (MS) and controls. METHODS: The researchers assessed caries (ICDAS), periodontal disease (PSR), and plaque (Silness Löe) indexes in both groups. Unstimulated, stimulated, and bilateral parotid saliva were also collected. The salivary flow (milliliters/minute) and α-amylase activity were measured in all samples...
September 2016: Special Care in Dentistry
Tanisha Powell, Nirupma Sharma, Kathleen T McKie
A 2-year-old male with Poland-Moebius syndrome was transferred from a local hospital to the Pediatric ICU at Children's Hospital of Georgia for suspected postobstructive pulmonary edema (POPE) after tonsillectomy/adenoidectomy (T&A). The patient's respiratory status ultimately declined and he developed respiratory failure. Imaging suggested pulmonary edema as well as a left-sided pneumonia. Echocardiogram showed pulmonary hypertension and airway exam via direct fiberoptic bronchoscopy revealed tracheomalacia and bronchomalacia...
2016: Case Reports in Otolaryngology
Hjalmar S Kühl, Ammie K Kalan, Mimi Arandjelovic, Floris Aubert, Lucy D'Auvergne, Annemarie Goedmakers, Sorrel Jones, Laura Kehoe, Sebastien Regnaut, Alexander Tickle, Els Ton, Joost van Schijndel, Ekwoge E Abwe, Samuel Angedakin, Anthony Agbor, Emmanuel Ayuk Ayimisin, Emma Bailey, Mattia Bessone, Matthieu Bonnet, Gregory Brazolla, Valentine Ebua Buh, Rebecca Chancellor, Chloe Cipoletta, Heather Cohen, Katherine Corogenes, Charlotte Coupland, Bryan Curran, Tobias Deschner, Karsten Dierks, Paula Dieguez, Emmanuel Dilambaka, Orume Diotoh, Dervla Dowd, Andrew Dunn, Henk Eshuis, Rumen Fernandez, Yisa Ginath, John Hart, Daniela Hedwig, Martijn Ter Heegde, Thurston Cleveland Hicks, Inaoyom Imong, Kathryn J Jeffery, Jessica Junker, Parag Kadam, Mohamed Kambi, Ivonne Kienast, Deo Kujirakwinja, Kevin Langergraber, Vincent Lapeyre, Juan Lapuente, Kevin Lee, Vera Leinert, Amelia Meier, Giovanna Maretti, Sergio Marrocoli, Tanyi Julius Mbi, Vianet Mihindou, Yasmin Moebius, David Morgan, Bethan Morgan, Felix Mulindahabi, Mizuki Murai, Protais Niyigabae, Emma Normand, Nicolas Ntare, Lucy Jayne Ormsby, Alex Piel, Jill Pruetz, Aaron Rundus, Crickette Sanz, Volker Sommer, Fiona Stewart, Nikki Tagg, Hilde Vanleeuwe, Virginie Vergnes, Jacob Willie, Roman M Wittig, Klaus Zuberbuehler, Christophe Boesch
The study of the archaeological remains of fossil hominins must rely on reconstructions to elucidate the behaviour that may have resulted in particular stone tools and their accumulation. Comparatively, stone tool use among living primates has illuminated behaviours that are also amenable to archaeological examination, permitting direct observations of the behaviour leading to artefacts and their assemblages to be incorporated. Here, we describe newly discovered stone tool-use behaviour and stone accumulation sites in wild chimpanzees reminiscent of human cairns...
2016: Scientific Reports
Linda Strobel, Gerolf Renner
INTRODUCTION: Moebius syndrome is a rare congenital disorder characterized by congenital facial paralysis and impairment of ocular abduction. The absence of facial expression in people with Moebius syndrome may impair social interaction. The present study aims at replicating prior findings on psychological adjustment in children and adolescents with Moebius syndrome and providing first data on quality of life. PARTICIPANTS AND METHODS: Parents (n=26) and children and adolescents (n=14) with Moebius-Syndrome completed the KINDL(R) (Questionnaire for Measuring Health-Related Quality of Life in Children and Adolescents), the SDQ (Strengths and Difficulties Questionnaire), and a newly devised questionnaire on the global, social, and emotional impact of Moebius syndrome, including a scale that addressed what conjectures were made concerning the thoughts of other people about a child with Moebius syndrome...
June 2016: Research in Developmental Disabilities
Talita Castro, Adriana O L Ortega, Maria Carolina Mussi, Mariana M Braga, Marina Gallottini
PURPOSE: Moebius syndrome (MS) is a rare congenital facial diplegia characterized by partial or complete sixth and seventh cranial nerve palsy. Orofacial manifestations include micrognathia, increased overbite, high arched palate, morphological changes in the tongue, and dental crowding. Case reports and small case series have shown a high prevalence of caries in MS patients. The purpose of this study was to compare the prevalence of caries between individuals with Moebius syndrome and controls using the International Caries Detection and Assessment System (ICDAS)...
January 2016: Pediatric Dentistry
Konstantinos Natsis, Georgios A Konstantinidis, Ulf G Moebius, Nikolaos Anastasopoulos, Trifon Totlis
INTRODUCTION: The purpose of the present study was to arthroscopically investigate the incidence and location of labral meniscoid folds of the shoulder joint, as well as to classify them into types and detect any possible correlation with gender, side and age of patients. MATERIALS AND METHODS: The shoulder joint of 59 patients who underwent arthroscopic surgery for different reasons was examined for meniscoid folds. We classified all meniscoid folds into slim or thick and large or small...
May 2016: Archives of Orthopaedic and Trauma Surgery
Victoria H McKay, Leila L Touil, Dagan Jenkins, Adel Y Fattah
Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount.
September 2016: Archives of Disease in Childhood
Anne Stuendl, Marcel Kunadt, Niels Kruse, Claudia Bartels, Wiebke Moebius, Karin M Danzer, Brit Mollenhauer, Anja Schneider
Extracellular α-synuclein has been proposed as a crucial mechanism for induction of pathological aggregate formation in previously healthy cells. In vitro, extracellular α-synuclein is partially associated with exosomal vesicles. Recently, we have provided evidence that exosomal α-synuclein is present in the central nervous system in vivo. We hypothesized that exosomal α-synuclein species from patients with α-synuclein related neurodegeneration serve as carriers for interneuronal disease transmission. We isolated exosomes from cerebrospinal fluid from patients with Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy as a non-α-synuclein related disorder that clinically overlaps with Parkinson's disease, and neurological controls...
February 2016: Brain: a Journal of Neurology
Blanka Vavrinkova, Tomas Binder
Leyden-Möbius muscular dystrophy is an autosomal recessive hereditary disease of unknown aetiology; it is a congenital disorder of protein metabolism primarily affecting proximal muscle groups leading to progressive muscular dystrophy. It later spreads to the muscles of the pelvic floor and lower extremities. The estimated incidence is 1:200,000. This paper describe a case of pregnancy and delivery in woman with progressive Leyden-Moebius muscular dystrophy. Cesarean section was performed due to progression of the underlying disease...
2015: Neuro Endocrinology Letters
Tracey Coussens, Forrest J Ellis
PURPOSE OF REVIEW: Brown syndrome is an ocular motility disorder characterized by limited volitional and passive elevation of the eye in adduction. Although originally thought due to abnormalities in the trochlea or tendon sheath (limiting the free movement of the tendon through the trochlea), recent evidence suggests that some cases of congenital Brown syndrome may be related to neurodevelopmental abnormalities of the extraocular muscles (congenital cranial dysinnervation disorders, CCDD)...
July 2015: Current Opinion in Ophthalmology
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