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Sample records for left arm dystonia

  1. Full recovery from drummer's dystonia with foot and arm symptoms after stereotactic ventro-oral thalamotomy: a case report.

    Science.gov (United States)

    Asahi, Takashi; Taira, Takaomi; Ikeda, Kiyonobu; Yamamoto, Jiro; Sato, Shuji

    2018-04-01

    Ventro-oral (Vo) thalamotomy is effective in patients with focal task-specific dystonias (FTSDs), but only in those with upper-limb symptoms. We describe a patient with drummer's dystonia who completely recovered after Vo thalamotomy. A 37-year-old man who started playing drums at 14 began having difficulty performing fine movements with his right foot when drumming at 22. He experienced right hand cramps while drumming 3 months before visiting our hospital. He was diagnosed with FTSD. Left Vo thalamotomy was performed, which led to complete improvement of symptoms. Vo thalamotomy may be effective for FTSD patients with upper- and lower-extremity symptoms.

  2. Disturbed moving patterns when drumming - influence of extreme tempi on percussionists with and without focal dystonia

    DEFF Research Database (Denmark)

    Dahl, Sofia; Altenmüller, Eckart

    . 3. METHOD: The arm, hand, and stick movements of four professional percussionists were recorded using a motion capture system. Two of the players are focal dystonia patients with their left arm affected. For each player and arm 25 s of single strokes at different tempi (50, 120, 300 bpm) and dynamic...

  3. Dystonia: phenomenology.

    Science.gov (United States)

    LeDoux, Mark S

    2012-01-01

    In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Primary dystonias are typically mobile and may show task specificity. Fixed dystonias are often psychogenic or associated with complex regional pain syndrome. Fixed dystonia may also be the terminal consequence of long-standing, inadequately-treated, severe appendicular or cervical dystonia. The vast majority of primary dystonias have their onset in adults. Late-onset, primary, focal dystonia, particularly blepharospasm, may spread to affect other anatomical segments. Patients with focal dystonia may also exhibit spontaneous remissions that last for years. Although sensory tricks are commonly reported by patients with primary dystonia, they have also been described in subjects with secondary dystonia. Another important sensory aspect of dystonia is pain which is relatively common in cervical dystonia but also reported by many patients with masticatory dystonia, hand-forearm dystonia and blepharospasm. In conclusion, "dystonia" can be used to delimit a clinical sign or loosely define a neuropsychiatric sensorimotor syndrome. Copyright © 2011 Elsevier Ltd. All rights reserved.

  4. Musician's Dystonias

    Science.gov (United States)

    ... Special Events Faces of Dystonia Donate Donate Online Membership Find an Event Donor Bill of Rights About Dystonia Symptoms & Diagnosis Forms of Dystonia Genetics Glossary Treatment Find a Doctor Oral Medications Botulinum Neurotoxin Neurosurgery ...

  5. Oromandibular Dystonia

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    ... Special Events Faces of Dystonia Donate Donate Online Membership Find an Event Donor Bill of Rights About Dystonia Symptoms & Diagnosis Forms of Dystonia Genetics Glossary Treatment Find a Doctor Oral Medications Botulinum Neurotoxin Neurosurgery ...

  6. Musician's Dystonia

    Science.gov (United States)

    ... musician’s dystonia are piano, guitar, and brass instruments. Pianists typically develop symptoms in the right hand, often ... have a prominent sensory component. For example, a pianist may experience symptoms with playing on ivory keys ...

  7. Dystonia rating scales: critique and recommendations.

    Science.gov (United States)

    Albanese, Alberto; Sorbo, Francesca Del; Comella, Cynthia; Jinnah, H A; Mink, Jonathan W; Post, Bart; Vidailhet, Marie; Volkmann, Jens; Warner, Thomas T; Leentjens, Albert F G; Martinez-Martin, Pablo; Stebbins, Glenn T; Goetz, Christopher G; Schrag, Anette

    2013-06-15

    Many rating scales have been applied to the evaluation of dystonia, but only few have been assessed for clinimetric properties. The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the clinical and clinimetric context. A systematic literature review was conducted to identify rating scales that have either been validated or used in dystonia. Thirty-six potential scales were identified. Eight were excluded because they did not meet review criteria, leaving 28 scales that were critiqued and rated by the task force. Seven scales were found to meet criteria to be "recommended": the Blepharospasm Disability Index is recommended for rating blepharospasm; the Cervical Dystonia Impact Scale and the Toronto Western Spasmodic Torticollis Rating Scale for rating cervical dystonia; the Craniocervical Dystonia Questionnaire for blepharospasm and cervical dystonia; the Voice Handicap Index (VHI) and the Vocal Performance Questionnaire (VPQ) for laryngeal dystonia; and the Fahn-Marsden Dystonia Rating Scale for rating generalized dystonia. Two "recommended" scales (VHI and VPQ) are generic scales validated on few patients with laryngeal dystonia, whereas the others are disease-specific scales. Twelve scales met criteria for "suggested" and 7 scales met criteria for "listed." All the scales are individually reviewed in the online information. The task force recommends 5 specific dystonia scales and suggests to further validate 2 recommended generic voice-disorder scales in dystonia. Existing scales for oromandibular, arm, and task-specific dystonia should be refined and fully assessed. Scales should be developed for body regions for which no scales are available, such as lower limbs and trunk. © 2013 Movement Disorder Society.

  8. Forms of Dystonia

    Science.gov (United States)

    ... Special Events Faces of Dystonia Donate Donate Online Membership Find an Event Donor Bill of Rights About Dystonia Symptoms & Diagnosis Forms of Dystonia Genetics Glossary Treatment Find a Doctor Oral Medications Botulinum Neurotoxin Neurosurgery ...

  9. Dystonia Medical Research Foundation

    Science.gov (United States)

    ... the DMRF Find An Event Donate Donate Online Membership Find an Event Donor Bill of Rights About Dystonia Symptoms & Diagnosis Forms of Dystonia Genetics Glossary Treatment Find a Doctor Oral Medications Botulinum Neurotoxin Neurosurgery ...

  10. Adult-onset dystonia.

    Science.gov (United States)

    Evatt, Marian L; Freeman, Alan; Factor, Stewart

    2011-01-01

    Dystonia is defined as involuntary sustained muscle contractions producing twisting or squeezing movements and abnormal postures. The movements can be stereotyped and repetitive and they may vary in speed from rapid to slow; sustained contractions can result in fixed postures. Dystonic disorders are classified into primary and secondary forms. Several types of adult-onset primary dystonia have been identified but all share the characteristic that dystonia (including tremor) is the sole neurologic feature. The forms most commonly seen in neurological practice include cranial dystonia (blepharospasm, oromandibular and lingual dystonia and spasmodic dysphonia), cervical dystonia (also known as spasmodic torticollis) and writer's cramp. These are the disorders that benefit most from botulinum toxin injections. A general characteristic of dystonia is that the movements or postures may occur in relation to specific voluntary actions by the involved muscle groups (such as in writer's cramp). Dystonic contractions may occur in one body segment with movement of another (overflow dystonia). With progression, dystonia often becomes present at rest. Dystonic movements typically worsen with anxiety, heightened emotions, and fatigue, decrease with relaxation, and disappear during sleep. There may be diurnal fluctuations in the dystonia, which manifest as little or no involuntary movement in the morning followed by severe disabling dystonia in the afternoon and evening. Morning improvement (or honeymoon) is seen with several types of dystonia. Patients often discover maneuvers that reduce the dystonia and which involve sensory stimuli such as touching the chin lightly in cervical dystonia. These maneuvers are known as sensory tricks, or gestes antagonistes. This chapter focuses on adult-onset focal dystonias including cranial dystonia, cervical dystonia, and writer's cramp. The chapter begins with a review of the epidemiology of focal dystonias, followed by discussions of each

  11. Art and dystonia.

    Science.gov (United States)

    Garcia-Ruiz, Pedro J; Slawek, Jaroslaw; Sitek, Emilia J; Martinez Castrillo, Juan Carlos

    2015-09-15

    Dystonia has a recent history in medicine. Focal dystonia was described in the 19th century by classic authors including Gowers, whilst generalized dystonia was described at the turn of the century. However, it is possible to find precise descriptions of dystonia in art, centuries before the medical definition. We have reviewed several pieces of art (sculpture, painting and literature) across the history that might represent descriptions of dystonia, from ancient period to nowadays. In classic times, the first reference to abnormal postures can be tracked back to the new Empire of Egypt (equinus foot), not to mention some recently described examples of dystonia from the Moche sculptures in Peru or Veracruz culture from Mexico. In Middle Ages it is possible to find many examples of sculptures in European cathedrals representing peasants with dramatic, presumably dystonic postures that coexist with amputation of limbs. This unique combination of dystonia and limb amputation probably represents ergotism. The painters Brueghel, Ribera and Velazquez also represented figures with postures likely to be dystonic. Literature is also a source of precise pre-neurological descriptions, especially during the 19th century. In David Copperfield, Dickens depicts characters with generalized dystonia (Uriah Heep), cervical dystonia (Mr. Sharp) and spasmodic dysphonia (Mr Creakle). Finally, even in modern Art (19th and 20th centuries), there are dramatic descriptions of abnormal postures that are likely to be dystonic, such as painful cervical dystonia (Brancusi), cervical dystonia with sensory trick (Modigliani) and upper limb dystonia (Wyspianski). However some postures presented in works of art may simply be a form of artistic expression and only bear unintentional resemblance to the dystonic postures. Art may be a source of neurological information, and that includes primary and secondary dystonia. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Dystonia: Related and Differential Disorders

    Science.gov (United States)

    ... Special Events Faces of Dystonia Donate Donate Online Membership Find an Event Donor Bill of Rights About Dystonia Symptoms & Diagnosis Forms of Dystonia Genetics Glossary Treatment Find a Doctor Oral Medications Botulinum Neurotoxin Neurosurgery ...

  13. Left-handed skeletally mature baseball players have smaller humeral retroversion in the throwing arm than right-handed players.

    Science.gov (United States)

    Takenaga, Tetsuya; Goto, Hideyuki; Sugimoto, Katsumasa; Tsuchiya, Atsushi; Fukuyoshi, Masaki; Nakagawa, Hiroki; Nozaki, Masahiro; Takeuchi, Satoshi; Otsuka, Takanobu

    2017-12-01

    It is known that the humeral retroversion of baseball players is greater in the throwing arm than in the nonthrowing arm. An investigation measuring dry bone specimens also showed that the right humerus had greater retroversion than the left. Considering these facts, it was hypothesized that humeral retroversion would differ between right- and left-handed players. This study aimed to compare the bilateral humeral retroversion between right- and left-handed skeletally mature baseball players. We investigated 260 (196 right-handed and 64 left-handed) male baseball players who belonged to a college or amateur team. Bilateral humeral retroversion was assessed using an ultrasound-assisted technique (humeral torsion angle [HTA]) as described by previous studies. Analysis of covariance, adjusted for handedness and baseball position, assessed the effect of throwing arm dominance on HTA. In comparison of the throwing arm, HTA was significantly smaller in left-handed (left humerus) than in right-handed (right humerus) players (77° vs. 81°; P left-handed (right humerus) than in right-handed (left humerus) players (73° vs. 69°; P left-handed than in right-handed players (3° vs. 12°; P left-handed skeletally mature baseball players was significantly smaller in the throwing arm, greater in the nonthrowing arm, and smaller in side-to-side differences than that of right-handed players. These findings may be key to understanding some of the biomechanical differences between right- and left-handed baseball players. Copyright © 2017 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

  14. Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

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    Andrew E. Becker

    2016-05-01

    Full Text Available Background: Ataxia with vitamin E deficiency (AVED is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. Case Report: An 11‐year‐old female presented with dystonic head tremor and cervical and bilateral arm dystonia. Her 14‐year‐old older brother had dystonic head tremor and generalized dystonia. One year later, the brother developed dysarthria, limb dysmetria, and gait ataxia. Compound heterozygous mutations in TTPA were detected, confirming the diagnosis of AVED. Discussion: AVED may present with dystonia rather than ataxia, and should be considered in the differential diagnosis of progressive dystonia

  15. Clinical characterization of dystonia in adult patients with Huntington's disease.

    Science.gov (United States)

    van de Zande, N A; Massey, T H; McLauchlan, D; Pryce Roberts, A; Zutt, R; Wardle, M; Payne, G C; Clenaghan, C; Tijssen, M A J; Rosser, A E; Peall, K J

    2017-09-01

    Huntington's disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is also recognized as part of the HD motor phenotype, although little work detailing its prevalence, distribution, severity and impact on functional capacity has been published to date. Patients (>18 years of age) were recruited from the Cardiff (UK) HD clinic, each undergoing a standardized videotaped clinical examination and series of functional assessment questionnaires (Unified Huntington's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale and modified version of the Toronto Western Spasmodic Torticollis Rating Scale). The presence and severity of dystonia were scored by four independent neurologists using the Burke-Fahn-Marsden Dystonia Rating Scale and Unified Huntington's Disease Rating Scale. Statistical analysis included Fisher's exact test, Wilcoxon test, anova and calculation of correlation coefficients where appropriate. Forty-eight patients [91% (48/53)] demonstrated evidence of dystonia, with the highest prevalence in the left upper limb (n = 44, 83%), right upper limb most severely affected and eyes least affected. Statistically significant positive correlations (P disease stage and motor disease duration. Deterioration in functional capacity also correlated with increasing dystonia severity. No significant relationship was observed with age at motor symptom onset or CAG repeat length. We report a high prevalence of dystonia in adult patients with HD, with worsening dystonia severity with increasing HD disease stage and motor disease duration. The recognition and management of dystonic symptoms in routine clinical practice will aid overall symptomatic treatment and functional improvement. © 2017 EAN.

  16. Dystonia: Physical Therapy

    Science.gov (United States)

    ... and Stress Management Oral Medications Botulinum Neurotoxin Injections Neurosurgery Complementary Therapies Partnering with Your Doctor Find a ... Treatment Find a Doctor Oral Medications Botulinum Neurotoxin Neurosurgery Living With Dystonia Finding Support Emotional Health Online ...

  17. Table tennis dystonia.

    Science.gov (United States)

    Le Floch, Anne; Vidailhet, Marie; Flamand-Rouvière, Constance; Grabli, David; Mayer, Jean-Michel; Gonce, Michel; Broussolle, Emmanuel; Roze, Emmanuel

    2010-02-15

    Focal task-specific dystonia (FTSD) occurs exclusively during a specific activity that usually involves a highly skilled movement. Classical FTSD dystonias include writer's cramp and musician's dystonia. Few cases of sport-related dystonia have been reported. We describe the first four cases of FTSD related to table tennis (TT), two involving professional international competitors. We also systematically analyzed the literature for reports of sport-related dystonia including detailed clinical descriptions. We collected a total of 13 cases of sport-related dystonia, including our four TT players. Before onset, all the patients had trained for many years, for a large number of hours per week. Practice time had frequently increased significantly in the year preceding onset. As TT is characterized by highly skilled hand/forearm movements acquired through repetitive exercises, it may carry a higher risk of FTSD than other sports. Intensive training may result in maladaptive responses and overwhelm homeostatic mechanisms that regulate cortical plasticity in vulnerable individuals. Our findings support the importance of environmental risk factors in sport-related FTSD, as also suggested in classical FTSD, and have important implications for clinical practice. (c) 2010 Movement Disorder Society.

  18. External shock waves therapy in dystonia: preliminary results.

    Science.gov (United States)

    Trompetto, C; Avanzino, L; Bove, M; Marinelli, L; Molfetta, L; Trentini, R; Abbruzzese, G

    2009-04-01

    Extracorporeal shock wave therapy (ESWT) has been shown to reduce hypertonia in patients with upper motor neuron syndrome without any side effect. The aim of the present study is to investigate whether ESWT could be useful also in patients with dystonia. We evaluated three patients with secondary dystonia and three patients with idiopathic writer's cramp. Placebo treatment was performed in each patient. ESWT was administered during four sessions (once weekly) to the target muscles of hand and forearm using an electromagnetic lithotripter (Modulith SLK--Storz Medical). Clinical evaluation was performed using the Unified Dystonia Rating Scale in patients with secondary dystonia and the Arm Dystonia Disability Scale in patients with writer's cramp. After treatment, the three patients with secondary dystonia showed a marked improvement which lasted at least until 1 month after the last session. In the patients with writer's cramp, the improvement after ESWT was less consistent being effective only in two subjects. There were no associated adverse effects. Extracorporeal shock wave therapy is probably an effective and safe treatment for upper limb dystonia, particularly for the secondary forms. Larger randomized studies are needed to confirm these preliminary results.

  19. Dystonia: Emotional and Mental Health

    Science.gov (United States)

    ... Support Frequently Asked Questions Faces of Dystonia Emotional & Mental Health Although dystonia is a movement disorder that impacts ... emotion as well as muscle movement. For years, mental health professionals have recognized that coping with a chronic ...

  20. Intra-procedure Visualization of the Esophagus using Interventional C-arm CT as Guidance for Left Atrial Radiofrequency Ablation

    Science.gov (United States)

    Tognolini, Alessia; Al-Ahmad, Amin; Wang, Paul J.; Hsia, Henry H.; Herfkens, Robert J.; Girard, Erin; Moore, Teri; Fahrig, Rebecca

    2011-01-01

    Rational and Objectives During radiofrequency catheter ablation (RFCA) for atrial fibrillation, the esophagus is at risk for thermal injury. In this study we compared using C-arm CT to clinical CT, without administration of oral contrast, to visualize the esophagus and its relationship to the left atrium (LA) and the ostia of the pulmonary veins (PV) during the RF ablation procedure. Materials and Methods Sixteen subjects underwent both cardiac clinical CT and C-arm CT. CT scans were obtained on a multi-detector CT using a standard ECG-gated protocol. C-arm CT scans were obtained using either a multi-sweep protocol with retrospective ECG-gating or a non-gated single-sweep protocol. C-arm CT and CT scans were analyzed in a random order and then compared for the following criteria: a) visualization of the esophagus (yes/no), b) relationship of esophagus position to the 4 PVs, and c) direct contact or absence of a fat pad between the esophagus and PV antrum. Results a) The esophagus was identified in all C-arm CT and CT scans. In 4 cases, orthogonal planes were needed on C-arm CT (inferior PV level); b) In 6 patients, the esophagus location on C-arm CT was different from CT; c) Direct contact was reported in 19/64 (30%) of the segments examined on CT vs. 26/64 (41%) on C-arm CT. In 5/64 segments (8%), C-arm CT overestimated a direct contact of the esophagus to the LA. Conclusion C-arm CT image quality without administration of oral contrast agents was shown to be sufficient for visualization of the esophagus location during an RFCA procedure for atrial fibrillation. PMID:21440465

  1. Biased Visuospatial Attention in Cervical Dystonia.

    Science.gov (United States)

    Chillemi, Gaetana; Formica, Caterina; Salatino, Adriana; Calamuneri, Alessandro; Girlanda, Paolo; Morgante, Francesca; Milardi, Demetrio; Terranova, Carmen; Cacciola, Alberto; Quartarone, Angelo; Ricci, Raffaella

    2018-01-01

    There is increasing evidence of non-motor, sensory symptoms, mainly involving the spatial domain, in cervical dystonia (CD). These manifestations are likely driven by dysfunctional overactivity of the parietal cortex during the execution of a sensory task. Few studies also suggest the possibility that visuospatial attention might be specifically affected in patients with CD. Therefore, we asked whether non-motor manifestations in CD might also comprise impairment of higher level visuospatial processing. To this end, we investigated visuospatial attention in 23 CD patients and 12 matched healthy controls (for age, gender, education, and ocular dominance). The patients were identified according to the dystonia pattern type (laterocollis vs. torticollis). Overall, participants were right-handers, and the majority of them was right-eye dominant. Visuospatial attention was assessed using a line bisection task. Participants were asked to bisect horizontal lines, using their right or left hand. Participants bisected more to the left of true center when using their left hand to perform the task than when using their right hand. However, overall, torticollis patients produced a significantly greater leftward deviation than controls. These data are consistent with preliminary findings suggesting the presence of biased spatial attention in patients with idiopathic cervical dystonia. The presence of an attentional bias in patients with torticollis seem to indicate that alterations of attentional circuits might be implicated in the pathophysiology of this type of CD. (JINS, 2018, 24, 23-32).

  2. Page 1 380 S. S. Patwardhan asymmetrical, left smaller and armed ...

    Indian Academy of Sciences (India)

    anterior end to the end of the pharynx 0.05 mm., to the end of entire. Oesophagus 2.6 mm.; the position of the nerve ring, excretory pore and cervical alae agree with Baylis' description; nine pairs of caudal alae; right spicule measures 0.062 mm. and left 0.091 mm. in length; vulva 1.21 mm. from anterior end; eggs 0.037 mm.

  3. Advances in molecular genetic studies of primary dystonia

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    MA Ling-yan

    2013-07-01

    Full Text Available Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1, whispering dysphonia (DYT4, dopa-responsive dystonia (DYT5, mixed-type dystonia (DYT6, paroxysmal kinesigenic dyskinesia (DYT10, myoclonus-dystonia syndrome (DYT11, rapid-onset dystonia parkinsonism (DYT12, adult-onset cervical dystonia (DYT23, craniocervical dystonia (DYT24 and primary torsion dystonia (DYT25.

  4. Adult-onset Idiopathic Focal Lower Extremity Dystonia: A Rare Task-Specific Dystonia

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    Ritesh Ramdhani

    2013-03-01

    Full Text Available Background:Adult-onset focal lower extremity (LE dystonia is rare, but there have recently been a number of case series that have reported an idiopathic variant triggered during ambulation.Methods:We describe nine patients with idiopathic, focal task-specific LE dystonia. We conducted a comparative analysis that included our cohort and several recently published case series to further characterize the disorder.Results:A total of 48 patients (37 female, 11 male were compared. The average age of onset was 48 years; 36 patients had distal extremity involvement (75%, 5 proximal (10%, and 7 both proximal and distal (15%. Among 33 patients in which the dystonic side was known, 20 were affected on the left (61%. Inversion of the foot with flexion of one or more toes was the most prevalent pattern in those with distal extremity involvement. Discussion:This is a novel task-specific dystonia triggered during ambulation that is often misdiagnosed as an orthopedic or psychogenic issue.

  5. Is two better than one? Limb Activation Treatment combined with Contralesional Arm Vibration to ameliorate signs of left neglect

    Directory of Open Access Journals (Sweden)

    Marco ePitteri

    2013-08-01

    Full Text Available In the present study, we evaluated the effects of the Limb Activation Treatment (LAT alone and in combination with the Contralateral Arm Vibration (CAV on left neglect (LN rehabilitation. We conceived them as techniques that both prompt the activation of the lesioned right hemisphere because of the activation (with the LAT as an active technique and the stimulation (with the CAV as a passive technique of the left hemibody. To test the effect of the simultaneous use of these two techniques (i.e., LAT and CAV on visuo-spatial aspects of LN, we described the case of a LN patient (GR, who showed high intra-individual variability (IIV in performance. Given the high IIV of GR, we used an ABAB repeated-measures design to better define the effectiveness of the combined application of LAT and CAV, as a function of time. The results showed an improvement of GR’s performance on the Bells test following the combined application of LAT and CAV, with respect to the application of LAT alone. We did not find, however, significant effects of treatment on two other LN tests (i.e., Line bisection and Picture scanning. We propose that the combined application of LAT and CAV can be beneficial for some aspects of LN.

  6. Muscle Selection for Focal Limb Dystonia

    OpenAIRE

    Barbara Illowsky Karp; Katharine Alter

    2017-01-01

    Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this artic...

  7. Task-specific dystonia : pathophysiology and management

    NARCIS (Netherlands)

    Sadnicka, Anna; Kassavetis, Panagiotis; Parees, Isabel; Meppelink, Anne; Butler, Katherine; Edwards, Mark

    Task-specific dystonia is a form of isolated focal dystonia with the peculiarity of being displayed only during performance of a specific skilled motor task. This distinctive feature makes task-specific dystonia a particularly mysterious and fascinating neurological condition. In this review, we

  8. Muscle Selection for Focal Limb Dystonia.

    Science.gov (United States)

    Karp, Barbara Illowsky; Alter, Katharine

    2017-12-29

    Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this article, we discuss approaches to selecting upper and lower extremity muscles for chemodenervation treatment of limb dystonia.

  9. Muscle Selection for Focal Limb Dystonia

    Directory of Open Access Journals (Sweden)

    Barbara Illowsky Karp

    2017-12-01

    Full Text Available Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this article, we discuss approaches to selecting upper and lower extremity muscles for chemodenervation treatment of limb dystonia.

  10. Clinical neurogenetics: dystonia from phenotype to genotype.

    Science.gov (United States)

    Waugh, Jeffrey L; Sharma, Nutan

    2013-11-01

    Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. Surgical Interventions for Task-specific Dystonia (Writer's Dystonia).

    Science.gov (United States)

    Doshi, Paresh K; Ramdasi, Raghvendra Vijay; Karkera, Bharati; Kadlas, Dilraj B

    2017-01-01

    Writer's cramp is a focal dystonia producing abnormal postures during selective motor activities. Thalamotomy or globus pallidus internus deep brain stimulation (GPi DBS) has been used as a surgical treatment in patients not responding to medical treatment. Eight patients (all men, age 16-47 years) with refractory focal hand dystonia underwent either ventrooralis (Vo) thalamotomy (seven patients) or GPi DBS (one patient) using stereotactic techniques. Preoperative video recordings, Writing movment score for dystonic posture and latency of dystonia (WMS), and symptom severity scores (SSSs) were evaluated at baseline and latest follow-up ranging from 1 to 4 years. All patients had difficulty in performing their most common tasks. The duration of symptoms ranged from 6 months to 12 years. All patients obtained immediate postoperative relief from the dystonic symptoms, and the effect was sustained during the follow-up period. The WMS (range 0-28) improved from a mean of 14.5 before surgery to 2, whereas the SSS (maximum 43 and minimum 10) improved from a mean of 15.3 before surgery to 2 at the last follow-up. There were no surgical complications, morbidity, or mortality. Vo thalamotomy or GPi DBS offers successful symptom relief in patients with task-specific dystonia.

  12. Improvement of Table Tennis Dystonia by Stereotactic Ventro-Oral Thalamotomy: A Case Report.

    Science.gov (United States)

    Asahi, Takashi; Taira, Takaomi; Ikeda, Kiyonobu; Yamamoto, Jiro; Sato, Shuji

    2017-03-01

    Task-specific focal dystonia, such as writer's cramp and musician's cramp, is a type of dystonia that affects performance of particular tasks. Such movement disorders have been treated with stereotactic ventro-oral (Vo) thalamotomy with excellent outcomes. However, there has been no previous report of treatment of sport-related or athlete's dystonia by means of stereotactic surgery. We treated a patient with table tennis-related dystonia with Vo thalamotomy, and evaluated the outcome. A 20-year-old, female, left-handed table tennis player complained of difficulty hitting a ping-pong ball. She started playing table tennis at 8 years of age, practiced for more than 4 hours every day, and participated in national tournaments. Abnormal flexion of the left wrist when hitting a ball became apparent when she was 19 years old. The abnormal movement emerged on the forehand stroke and, subsequently, on the backhand, until finally she could not continue playing. The diagnosis was task-specific focal dystonia that did not recover with medication. She visited our hospital and underwent right Vo thalamotomy. The surgery was performed using local anesthesia, with the patient swinging a paddle during stimulation and coagulation of the thalamus. Her symptoms had improved completely the day after surgery, such that she was able to participate in tournaments again. We applied Vo thalamotomy for the successful treatment of athlete's dystonia, suggesting that this condition has an underlying mechanism similar to that of other task-specific focal dystonias. This provides new hope to patients with athlete's dystonia refractive to other therapies. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Genetics Home Reference: deafness-dystonia-optic neuronopathy syndrome

    Science.gov (United States)

    ... Home Health Conditions Deafness-dystonia-optic neuronopathy syndrome Deafness-dystonia-optic neuronopathy syndrome Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as ...

  14. Reduced striatal D2 receptor binding in myoclonus-dystonia

    International Nuclear Information System (INIS)

    Beukers, R.J.; Weisscher, N.; Tijssen, M.A.J.; Booij, J.; Zijlstra, F.; Amelsvoort, T.A.M.J. van

    2009-01-01

    To study striatal dopamine D 2 receptor availability in DYT11 mutation carriers of the autosomal dominantly inherited disorder myoclonus-dystonia (M-D). Fifteen DYT11 mutation carriers (11 clinically affected) and 15 age- and sex-matched controls were studied using 123 I-IBZM SPECT. Specific striatal binding ratios were calculated using standard templates for striatum and occipital areas. Multivariate analysis with corrections for ageing and smoking showed significantly lower specific striatal to occipital IBZM uptake ratios (SORs) both in the left and right striatum in clinically affected patients and also in all DYT11 mutation carriers compared to control subjects. Our findings are consistent with the theory of reduced dopamine D 2 receptor (D2R) availability in dystonia, although the possibility of increased endogenous dopamine, and consequently, competitive D2R occupancy cannot be ruled out. (orig.)

  15. Bilateral Stereotactic Thalamotomy for Bilateral Musician's Hand Dystonia.

    Science.gov (United States)

    Horisawa, Shiro; Goto, Shinichi; Nakajima, Takeshi; Kawamata, Takakazu; Taira, Takaomi

    2016-08-01

    Focal hand dystonia in musicians, also known as musician's dystonia, is a task-specific movement disorder characterized by unwanted involuntary muscle contractions occurring only when playing a musical instrument. Case 1 was a 50-year-old female professional pianist who underwent staged bilateral ventro-oral (Vo) thalamotomy, with an interval between the first and second surgery of 4 years. The first surgery (right Vo thalamotomy) led to significant improvements in dystonic symptoms without any complications. Pre- and postoperative Tubiana's musician's dystonia scale (TMDS) scores were 2 and 5, respectively. The second surgery (left Vo thalamotomy) also led to significant improvements in dystonic symptoms, with dysarthria and verbal recall disturbance resolving within 3 months. Pre- and postoperative TMDS scores were 2 and 5, respectively. The patient was subsequently able to return to live-stage performances. Case 2 was a 48-year-old male clarinet repair technician who underwent staged bilateral Vo thalamotomy, with an interval between the first and second surgery of 13 months. The first surgery (right Vo thalamotomy) led to dramatic improvements in symptoms without any complications. Pre- and postoperative TMDS scores were 2 and 5, respectively. The second surgery (left Vo thalamotomy) also led to significant improvements in symptoms with transient hypophonia. Pre- and postoperative TMDS scores were 2 and 5, respectively. The patient was subsequently able to return to work without difficulty. The findings in these 2 cases indicate the utility of bilateral stereotactic Vo thalamotomy in the treatment of medically intractable musician's dystonia affecting both hands. Copyright © 2016 Elsevier Inc. All rights reserved.

  16. Soleus H-reflex tests in causalgia-dystonia compared with dystonia and mimicked dystonic posture

    NARCIS (Netherlands)

    Koelman, J. H.; Hilgevoord, A. A.; Bour, L. J.; Speelman, J. D.; Ongerboer de Visser, B. W.

    1999-01-01

    Dystonia in the causalgia-dystonia syndrome is characterized by a fixed dystonic posture. To identify involvement of central pathophysiologic mechanisms, we analyzed soleus H-reflex tests in five patients with causalgia-dystonia. Soleus H-reflex test results in these patients differed from those in

  17. Movement Structure in Young and Elderly Adults during Goal-Directed Movements of the Left and Right Arm

    Science.gov (United States)

    Poston, Brach; Van Gemmert, Arend W. A.; Barduson, Beth; Stelmach, George E.

    2009-01-01

    Elderly adults often exhibit performance deficits during goal-directed movements of the dominant arm compared with young adults. Recent studies involving hemispheric lateralization have provided evidence that the dominant and non-dominant hemisphere-arm systems are specialized for controlling different movement parameters and that hemispheric…

  18. Evidence for altered basal ganglia-brainstem connections in cervical dystonia.

    Directory of Open Access Journals (Sweden)

    Anne J Blood

    Full Text Available There has been increasing interest in the interaction of the basal ganglia with the cerebellum and the brainstem in motor control and movement disorders. In addition, it has been suggested that these subcortical connections with the basal ganglia may help to coordinate a network of regions involved in mediating posture and stabilization. While studies in animal models support a role for this circuitry in the pathophysiology of the movement disorder dystonia, thus far, there is only indirect evidence for this in humans with dystonia.In the current study we investigated probabilistic diffusion tractography in DYT1-negative patients with cervical dystonia and matched healthy control subjects, with the goal of showing that patients exhibit altered microstructure in the connectivity between the pallidum and brainstem. The brainstem regions investigated included nuclei that are known to exhibit strong connections with the cerebellum. We observed large clusters of tractography differences in patients relative to healthy controls, between the pallidum and the brainstem. Tractography was decreased in the left hemisphere and increased in the right hemisphere in patients, suggesting a potential basis for the left/right white matter asymmetry we previously observed in focal dystonia patients.These findings support the hypothesis that connections between the basal ganglia and brainstem play a role in the pathophysiology of dystonia.

  19. Lasting improvements in left spatial neglect following a protocol combining neck-muscle vibration and voluntary arm movements: a case-study.

    Science.gov (United States)

    Ceyte, Hadrien; Beis, Jean-Marie; Simon, Mathilde; Rémy, Ariane; Anxionnat, René; Paysant, Jean; Caudron, Sébastien

    2018-01-22

    Beyond promising experimental results of sensory passive stimulations in spatial cognition disorders, some questions still remain regarding interests of these stimulations during the daily activities in neglect. The aim of this case-study was to evaluate the effects of a protocol combining left neck-muscle vibration with daily simple movements, like arm pointing movements, on perceptivo-locomotor deficits in a left spatial neglect patient. Two neuropsychological tests, one subjective straight-ahead pointing (SSA) test and one wheelchair navigation test were carried out before the combination protocol, immediately after, 1 h later, and 24 h later. The results showed a reduction of neglect spatial bias following the protocol lasted at least 24 h in all the tests (except for the SSA test due to the unavailability of the pointing device). The range of improvements in the symptoms of spatial neglect suggests that this therapeutic intervention based on the combining neck-muscle vibration to voluntary arm movements could be a useful treatment for this condition. One of future investigation axes should be the development of a vibratory tool in order to facilitate the combining this proprioceptive stimulation to daily activities. Implications for rehabilitation Spatial neglect is a perplexing neuropsychological syndrome, affecting different domains of spatial cognition and impacting also the functional domain. The treatments based on neck-muscle vibration are simple to use, non-invasive and requires none active participation of patient. A therapeutic intervention based on the combining left neck-muscle vibration and voluntary arm movements in a left-spatial-neglect show a lasting reduction of symptoms especially in daily activities. The combination of treatments based on the Bottom-Up approach opens innovative perspectives in rehabilitation.

  20. Depression in focal, segmental and generalized dystonia.

    Science.gov (United States)

    Lewis, L; Butler, A; Jahanshahi, M

    2008-11-01

    Dystonia causes body disfigurement in the majority of those affected. Our aim was to test the hypothesis that low self-esteem resulting from the sense of disfigurement is an important component of self-reported depression in focal, segmental and generalized dystonia. Questionnaires to assess self-reported depression, self-esteem, body concept, disfigurement, disability and quality of life were completed by 329 community based dystonia patients. Moderate to severe depression was reported by 30 %. Self-reported depression had a strong somatic component, but patients also showed a specific concern with self-image. Extent of dystonia, body parts affected and marital status influenced self-reported depression in dystonia. Self esteem, body concept, disfigurement and quality of life emerged as factors which accounted for the variance of self-reported depression in dystonia. These results suggest that in dystonia, disfigurement, negative body concept, low self-esteem, and the impact of the disease on quality of life make important contributions to depression. However, longitudinal followup is required to firmly establish the direction of causality between depression and these psychosocial variables in dystonia.

  1. Dystonia rating scales: critique and recommendations

    NARCIS (Netherlands)

    Albanese, A.; Sorbo, F.D.; Comella, C.; Jinnah, H.A.; Mink, J.W.; Post, B.; Vidailhet, M.; Volkmann, J.; Warner, T.T.; Leentjens, A.F.; Martinez-Martin, P.; Stebbins, G.T.; Goetz, C.G.; Schrag, A.

    2013-01-01

    Many rating scales have been applied to the evaluation of dystonia, but only few have been assessed for clinimetric properties. The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the clinical and clinimetric context. A systematic

  2. A History of Dystonia: Ancient to Modern.

    Science.gov (United States)

    Newby, Rachel E; Thorpe, Deborah E; Kempster, Peter A; Alty, Jane E

    2017-01-01

    Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to identify in historical documents. Torticollis is an exception, although there is difficulty distinguishing dystonic torticollis from congenital muscular torticollis. There are, nevertheless, possible representations of dystonia in literature and visual art from the pre-modern world. Eighteenth century systematic nosologists such as Linnaeus, de Sauvages, and Cullen had attempted to classify some spasmodic conditions, including torticollis. But only after Charcot's contributions to clinical neuroscience were the various forms of generalized and focal dystonia clearly delineated. They were categorized as névroses : Charcot's term for conditions without an identifiable neuroanatomical cause. For a time thereafter, psychoanalytic models of dystonia based on Freud's ideas about unconscious conflicts transduced into physical symptoms were ascendant, although there was always a dissenting "organic" school. With the rise of subspecialization in movement disorders during the 1970s, the pendulum swung strongly back toward organic causation. David Marsden's clinical and electrophysiological research on the adult-onset focal dystonias was particularly important in establishing a physical basis for these disorders. We are still in a period of "living history" of dystonia, with much yet to be understood about pathophysiology. Rigidly dualistic models have crumbled in the face of evidence of electrophysiological and psychopathological overlap between organic and functional dystonia. More flexible biopsychosocial frameworks may address the demand for new diagnostic and therapeutic rationales.

  3. High motor variability in DYT1 dystonia is associated with impaired visuomotor adaptation.

    Science.gov (United States)

    Sadnicka, Anna; Stevenson, Anna; Bhatia, Kailash P; Rothwell, John C; Edwards, Mark J; Galea, Joseph M

    2018-02-26

    For the healthy motor control system, an essential regulatory role is maintaining the equilibrium between keeping unwanted motor variability in check whilst allowing informative elements of motor variability. Kinematic studies in children with generalised dystonia (due to mixed aetiologies) show that movements are characterised by increased motor variability. In this study, the mechanisms by which high motor variability may influence movement generation in dystonia were investigated. Reaching movements in the symptomatic arm of 10 patients with DYT1 dystonia and 12 age-matched controls were captured using a robotic manipulandum and features of motor variability were extracted. Given that task-relevant variability and sensorimotor adaptation are related in health, markers of variability were then examined for any co-variance with performance indicators during an error-based learning visuomotor adaptation task. First, we confirmed that motor variability on a trial-by-trial basis was selectively increased in the homogenous and prototypical dystonic disorder DYT1 dystonia. Second, high baseline variability predicted poor performance in the subsequent visuomotor adaptation task offering insight into the rules which appear to govern dystonic motor control. The potential mechanisms behind increased motor variability and its corresponding implications for the rehabilitation of patients with DYT1 dystonia are highlighted.

  4. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

    Science.gov (United States)

    Zimprich, A; Grabowski, M; Asmus, F; Naumann, M; Berg, D; Bertram, M; Scheidtmann, K; Kern, P; Winkelmann, J; Müller-Myhsok, B; Riedel, L; Bauer, M; Müller, T; Castro, M; Meitinger, T; Strom, T M; Gasser, T

    2001-09-01

    The dystonias are a common clinically and genetically heterogeneous group of movement disorders. More than ten loci for inherited forms of dystonia have been mapped, but only three mutated genes have been identified so far. These are DYT1, encoding torsin A and mutant in the early-onset generalized form, GCH1 (formerly known as DYT5), encoding GTP-cyclohydrolase I and mutant in dominant dopa-responsive dystonia, and TH, encoding tyrosine hydroxylase and mutant in the recessive form of the disease. Myoclonus-dystonia syndrome (MDS; DYT11) is an autosomal dominant disorder characterized by bilateral, alcohol-sensitive myoclonic jerks involving mainly the arms and axial muscles. Dystonia, usually torticollis and/or writer's cramp, occurs in most but not all affected patients and may occasionally be the only symptom of the disease. In addition, patients often show prominent psychiatric abnormalities, including panic attacks and obsessive-compulsive behavior. In most MDS families, the disease is linked to a locus on chromosome 7q21 (refs. 11-13). Using a positional cloning approach, we have identified five different heterozygous loss-of-function mutations in the gene for epsilon-sarcoglycan (SGCE), which we mapped to a refined critical region of about 3.2 Mb. SGCE is expressed in all brain regions examined. Pedigree analysis shows a marked difference in penetrance depending on the parental origin of the disease allele. This is indicative of a maternal imprinting mechanism, which has been demonstrated in the mouse epsilon-sarcoglycan gene.

  5. Pedunculopontine nucleus cholinergic deficiency in cervical dystonia.

    Science.gov (United States)

    Mente, Karin; Edwards, Nancy A; Urbano, Demelio; Ray-Chaudhury, Abhik; Iacono, Diego; Alho, Ana Tereza Di Lorenzo; Alho, Eduardo Joaquim Lopes; Amaro, Edson; Horovitz, Silvina G; Hallett, Mark

    2018-03-06

    The etiology of cervical dystonia is unknown. Cholinergic abnormalities have been identified in dystonia animal models and human imaging studies. Some animal models have cholinergic neuronal loss in the striatum and increased acetylcholinesterase activity in the pedunculopontine nucleus. The objective of this study was to determine the presence of cholinergic abnormalities in the putamen and pedunculopontine nucleus in cervical dystonia human brain donors. Formalin-fixed brain tissues were obtained from 8 cervical dystonia and 7 age-matched control brains (controls). Pedunculopontine nucleus was available in only 6 cervical dystonia and 5 controls. Neurodegeneration was evaluated pathologically in the putamen, pedunculopontine nucleus, and other regions. Cholinergic neurons were detected using choline acetyltransferase immunohistochemistry in the putamen and pedunculopontine nucleus. Putaminal cholinergic neurons were quantified. A total of 6 cervical dystonia patients and 6 age-matched healthy controls underwent diffusion tensor imaging to determine if there were white matter microstructural abnormalities around the pedunculopontine nucleus. Decreased or absent choline acetyltransferase staining was identified in all 6 pedunculopontine nucleus samples in cervical dystonia. In contrast, strong choline acetyltransferase staining was present in 4 of 5 pedunculopontine nucleus controls. There were no differences in pedunculopontine nucleus diffusion tensor imaging between cervical dystonia and healthy controls. There was no difference in numbers of putaminal cholinergic neurons between cervical dystonia and controls. Our findings suggest that pedunculopontine nucleus choline acetyltransferase deficiency represents a functional cholinergic deficit in cervical dystonia. Structural lesions and confounding neurodegenerative processes were excluded by absence of neuronal loss, gliosis, diffusion tensor imaging abnormalities, and beta-amyloid, tau, and alpha

  6. A new application of the four-arm standard da Vinci® surgical system: totally robotic-assisted left-sided colon or rectal resection.

    Science.gov (United States)

    Koh, Dean Chi-Siong; Tsang, Charles Bih-Shou; Kim, Seon-Hahn

    2011-06-01

    The key to successful rectal cancer resection is to perform complete total mesorectal excision (TME). Laparoscopic TME can be challenging, especially in the narrow confines of the pelvis. Robotic-assisted surgery can overcome these limitations through superior three-dimensional (3-D) visualization and the increased range of movements provided by the endowrist function. To date, all totally robotic resections of the rectum have been described using da Vinci® S or Si systems. Due to the limitations of the standard system, only hybrid procedures have been described so far. To evaluate the feasibility and short-term outcomes of performing totally robotic-assisted laparoscopic colorectal resections using the standard da Vinci® system with a fourth arm extension. The standard system was docked from the patient's left hip. Four 8-mm robotic trocars were inserted. Upon completion of phase 1 (pedicle ligation, colonic mobilization, splenic flexure takedown), the two left-sided arms are repositioned to allow phase 2 (pelvic dissection), enabling the entire procedure except for the distal transection and anastomosis to be performed robotically. Twenty-one robotic procedures were performed from August 2008 to September 2009. The mean age of the patients was 61 years (13 males). The procedures performed included seven anterior resections, seven low anterior resections, five ultralow anterior resections, one abdominoperineal resection, and one resection rectopexy. The majority of the cases were performed in patients with colon or rectal cancer. Operative time ranged from 232 to 444 (mean 316) min. Postoperative morbidity occurred in three patients (14.3%) with no mortalities or conversions. Average hospital stay was 6.4 days. Mean lymph node yield for the cases with cancer was 17.8. The standard da Vinci® system with four arms can be used to perform totally robotic-assisted colorectal procedures for the left colon and rectum with short-term outcomes similar to those of

  7. The brighter side of music in dystonia.

    Science.gov (United States)

    Kojovic, Maja; Pareés, Isabel; Sadnicka, Anna; Kassavetis, Panagiotis; Rubio-Agusti, Ignacio; Saifee, Tabish A; Bologna, Matteo; Rothwell, John C; Edwards, Mark J; Bhatia, Kailash P

    2012-07-01

    To report a patient with genetically proven DYT1 dystonia who shows dramatic improvement in symptoms while playing the piano. Case study. Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, England. A 49-year-old right-handed male civil servant. The patient was videotaped, and electromyographic activity was recorded from the splenius capitis, sternocleidomastoid, and orbicularis oculi muscles, while he was (1) at rest, (2) playing an electric piano with auditory feedback, and (3) playing an electric piano without auditory feedback (ie, when the sound of the piano is turned off). At baseline, the patient had generalized dystonia with prominent upper limb, neck, and facial involvement. While he was playing the piano, there was an instant and almost complete improvement in dystonia symptoms. The improvement was also noticeable when he played the piano without auditory feedback. There was a significant reduction in electromyographic activity for all recorded muscles when he played the piano, compared with his baseline electromyographic activity. This is a unique case of “paradoxical” improvement in dystonia symptoms with activity (ie, playing a piano), in contrast to the typical worsening of dystonia symptoms with activity. We discuss the possible mechanisms underlying this phenomenon. One of the most intriguing features of primary dystonia is the variability of abnormal muscle activity relative to the context in which movement is attempted (eg, the exquisite task specificity of focal hand dystonia or the phenomenon of the geste antagoniste). We present a unique case of an amateur pianist with genetically proven DYT1 dystonia who shows dramatic improvement in generalized dystonia symptoms while playing piano.

  8. Right-Left Approach and Reaching Arm Movements of 4-Month Infants in Free and Constrained Conditions

    Science.gov (United States)

    Morange-Majoux, Francoise; Dellatolas, Georges

    2010-01-01

    Recent theories on the evolution of language (e.g. Corballis, 2009) emphazise the interest of early manifestations of manual laterality and manual specialization in human infants. In the present study, left- and right-hand movements towards a midline object were observed in 24 infants aged 4 months in a constrained condition, in which the hands…

  9. Genetics Home Reference: dopa-responsive dystonia

    Science.gov (United States)

    ... splicing defect accounts for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10. ... SPR) in a patient with dopa-responsive dystonia. Neurogenetics. 2004 Sep;5(3):187-90. Epub 2004 ...

  10. Multilingual website and cyberconsultations for oromandibular dystonia

    Directory of Open Access Journals (Sweden)

    Kazuya Yoshida

    2018-03-01

    Full Text Available Oromandibular dystonia is a focal dystonia that manifests as involuntary masticatory and/or tongue muscle contractions. This movement disorder is frequently misdiagnosed as a temporomandibular disorder. Hence, it would be useful to establish a method that makes it possible for patients with the condition to find appropriate medical institutions by themselves. The author produced a website Involuntary movements of the stomatognathic region (https://sites. google.com/site/oromandibulardystoniaenglish/ for patients with oromandibular dystonia, which is available in twenty languages. It has been viewed more than 1,000,000 times by individuals from all over the world. The visitors to the site have completed questionnaires and/or sent images or videos of their involuntary movements over the internet. Cyberconsultations (remote diagnosis were also performed via Skype™. Approximately 1000 patients with involuntary stomatognathic movements visited our department. Only 12.5% of the patients had previously been diagnosed with or were suspected to have dystonia. The findings of this study suggest that the multilingual website has contributed to increasing awareness of oromandibular dystonia and that the provision of basic telemedicine via the internet can aid the diagnosis and treatment of oromandibular dystonia.

  11. Changes in resting-state connectivity in musicians with embouchure dystonia.

    Science.gov (United States)

    Haslinger, Bernhard; Noé, Jonas; Altenmüller, Eckart; Riedl, Valentin; Zimmer, Claus; Mantel, Tobias; Dresel, Christian

    2017-03-01

    Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses. Patients showed increased functional connectivity of the bilateral sensorimotor mouth area and right secondary somatosensory cortex, but reduced functional connectivity of the bilateral sensorimotor hand representation, left inferior parietal cortex, and mesial premotor cortex within the lateral motor function network. Within the auditory function network, the functional connectivity of bilateral secondary auditory cortices, right posterior parietal cortex and left sensorimotor hand area was increased, the functional connectivity of right primary auditory cortex, right secondary somatosensory cortex, right sensorimotor mouth representation, bilateral thalamus, and anterior cingulate cortex was reduced. Negative functional connectivity between the cerebellar and lateral motor function network and positive functional connectivity between the cerebellar and primary visual network were reduced. Abnormal resting-state functional connectivity of sensorimotor representations of affected and unaffected body parts suggests a pathophysiological predisposition for abnormal sensorimotor and audiomotor integration in embouchure dystonia. Altered connectivity to the cerebellar network highlights the important role of the cerebellum in this disease. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  12. Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.

    LENUS (Irish Health Repository)

    Walsh, Richard A

    2012-02-01

    Structural grey matter abnormalities have been described in adult-onset primary torsion dystonia (AOPTD). Altered spatial discrimination thresholds are found in familial and sporadic AOPTD and in some unaffected relatives who may be non-manifesting gene carriers. Our hypothesis was that a subset of unaffected relatives with abnormal spatial acuity would have associated structural abnormalities. Twenty-eight unaffected relatives of patients with familial cervical dystonia, 24 relatives of patients with sporadic cervical dystonia and 27 control subjects were recruited. Spatial discrimination thresholds (SDTs) were determined using a grating orientation task. High-resolution magnetic resonance imaging (MRI) images (1.5 T) were analysed using voxel-based morphometry. Unaffected familial relatives with abnormal SDTs had reduced caudate grey matter volume (GMV) bilaterally relative to those with normal SDTs (right Z = 3.45, left Z = 3.81), where there was a negative correlation between SDTs and GMV (r = -0.76, r(2) = 0.58, p < 0.0001). Familial relatives also had bilateral sensory cortical expansion relative to unrelated controls (right Z = 4.02, left Z = 3.79). Unaffected relatives of patients with sporadic cervical dystonia who had abnormal SDTs had reduced putaminal GMV bilaterally compared with those with normal SDTs (right Z = 3.96, left Z = 3.45). Sensory abnormalities in some unaffected relatives correlate with a striatal substrate and may be a marker of genetic susceptibility in these individuals. Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia.

  13. Dystonias

    Science.gov (United States)

    ... age, although most individuals first experience symptoms in middle age. It often begins slowly and usually reaches a ... Entry Supplements Pre-Application Considerations Apply for Funding New Investigators Grant Application Overview Loan Repayment Programs Administrative ...

  14. Dystonia

    Science.gov (United States)

    ... Funding Funding Opportunities (NIH Guide) Forms and Deadlines Electronic Research Admin (eRA) Grants Policy OER News About ... minute injections of botulinum toxin (sold under the trade names of Botox® and Myobloc™) into dystonic muscles. ...

  15. [Primary focal dystonia: descriptive study of 205 patients].

    Science.gov (United States)

    Bartolomé, F M; Fanjul, S; Cantarero, S; Hernández, J; García Ruiz, P J

    2003-03-01

    To describe the clinical and epidemiologic aspects of different types of focal dystonia. A total of 205 patients with primary focal dystonia were studied retrospectively and the following variables were analyzed: gender, age of onset, age at examination, evolution time, history of trauma, association with other movement disorders, fluctuations of dystonic symptoms as well as a family history of dystonia, Parkinson's disease, tremor, and lefthandedness or stuttering. We compared these variables among the different clinical categories of focal dystonia. Those patients with cranial and laryngeal dystonia were significantly older at the onset of symptoms compared with patients with writer's cramp. Males were more prevalent than females in all categories of focal dystonia except for cranial dystonia. Prior history of trauma and association with tremor were more frequent in patients with cervical dystonia than in those with others dystonic categories. Most patients with cranial, cervical and laryngeal dystonia had fluctuations in the intensity of dystonic symptoms, unlike the patients with writer's cramp. There is a caudo-cranial gradient in age of onset and the age of onset increases as the cranial presentation becomes greater. Females are more prevalent in cranial dystonia and there is a preponderance of males in the dystonias with a lower location. The dystonias with cranial distribution frequently present fluctuations of symptoms during the day. Association with other movement disorders, such as tremor, and prior history of trauma, is common in patients with cervical dystonia.

  16. IGF-1 response to arm exercise with eccentric and concentric muscle contractions in resistance-trained athletes with left ventricular hypertrophy.

    Science.gov (United States)

    Żebrowska, A; Waśkiewicz, Z; Zając, A; Gąsior, Z; Galbo, H; Langfort, J

    2013-02-01

    The study aimed at evaluating changes in plasma levels of insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein-3 (IGFBP-3), testosterone, growth hormone (GH), cortisol, and insulin in resistance-trained male athletes with (n=9) and without (n=9) left ventricular hypertrophy (LVH) in response to eccentric (ECC) and concentric (CON) arm exercise. 10 age-matched healthy non-trained subjects served as controls. M-mode and 2D Doppler echocardiography were used to estimate LV mass.Resting IGF-1 concentration was higher in LVH athletes compared to controls (52 ± 5 nM vs. 46 ± 7 nM, pathletes with LVH (70 ± 11 nM, n=9) compared to those without LVH (62 ± 10 nM, n=9), and to untrained controls (54 ± 6 nM). Both CON and ECC exercise resulted in higher serum IGFBP-3 levels in LVH athletes compared to controls (242 ± 57 and 274 ± 58, athletes, vs. 215 ± 63 and 244 ± 67, controls, nM, pathletes (4.7 ± 2.1 vs. 6.1 ± 1.8 ng  mL(-1), peccentric arm exercise. These findings suggest a role of IGF-1, possibly released from contracting muscle, in stimulating LV hypertrophy in resistance training. © Georg Thieme Verlag KG Stuttgart · New York.

  17. Syringomyelia and Arnold-Chiari malformation associated with neck pain and left arm radiculopathy treated with spinal manipulation.

    Science.gov (United States)

    Tieppo Francio, Vinicius

    2014-11-09

    An 18-year-old female patient presented with left dominant neck pain after a motor vehicle collision. Her cervical spine MRI revealed syringomyelia with associated Type I Arnold-Chiari malformation. Some researchers have reported that these might be considered contraindications to spinal manipulation. Nevertheless, her benign and functional clinical examination suggested otherwise and she underwent four manipulative treatments in 2 weeks. By the end of the treatment plan and after 1-month follow-up, she was asymptomatic, no adverse effects were noted and her outcome assessment score decreased from 56% to 0%. This case illustrates that spinal manipulation may be a useful adjunctive treatment procedure for spinal pain, even in the presence of syringomyelia and Chiari malformation, which may not necessarily be a contraindication to spinal manipulation, when performed by a skilled and well-trained physician. 2014 BMJ Publishing Group Ltd.

  18. Exploratory structural assessment in craniocervical dystonia: Global and differential analyses.

    Directory of Open Access Journals (Sweden)

    Larissa Vilany

    Full Text Available Our goal was to investigate the cortical thickness and subcortical volume in subjects with craniocervical dystonia and its subgroups.We studied 49 subjects, 17 with cervical dystonia, 18 with blepharospasm or oromandibular dystonia, and 79 healthy controls. We performed a whole group analysis, followed by a subgroup analysis. We used Freesurfer software to measure cortical thickness, subcortical volume and to perform a primary exploratory analysis in the craniocervical dystonia group, complemented by a region of interest analysis. We also performed a secondary analysis, with data generated from Freesurfer for subgroups, corrected by false discovery rate. We then performed an exploratory generalized linear model with significant areas for the previous steps using clinical features as independent variables.The primary exploratory analysis demonstrated atrophy in visual processing regions in craniocervical dystonia. The secondary analysis demonstrated atrophy in motor, sensory, and visual regions in blepharospasm or oromandibular dystonia, as well as in limbic regions in cervical dystonia. Cervical dystonia patients also had greater cortical thickness than blepharospasm or oromandibular dystonia patients in frontal pole and medial orbitofrontal regions. Finally, we observed an association between precuneus, age of onset of dystonia and age at the MRI exam, in craniocervical dystonia; between motor and limbic regions and age at the exam, clinical score and time on botulinum toxin in cervical dystonia and sensory regions and age of onset and time on botulinum toxin in blepharospasm or oromandibular dystonia.We detected involvement of visual processing regions in craniocervical dystonia, and a pattern of involvement in cervical dystonia and blepharospasm or oromandibular dystonia, including motor, sensory and limbic areas. We also showed an association of cortical thickness atrophy and younger onset age, older age at the MRI exam, higher clinical

  19. Headache Attributed to Craniocervical Dystonia - A Little Known Headache.

    Science.gov (United States)

    Bezerra, Marcos Eugenio Ramalho; Rocha-Filho, Pedro Augusto Sampaio

    2017-02-01

    Craniocervical dystonia is a focal or segmental dystonia in its distribution, classically known as spasmodic torticollis when in its pure cervical presentation. Although craniocervical dystonia has been recognized as a possible cause of headache since the publication of the second version of International Classification of Headache Disorders, there are few studies about this entity. This was a narrative review. Craniocervical dystonia was associated with muscle pain in 67-89% of the cases. Headaches of any kind affected approximately 60% of patients with craniocervical dystonia, and were located mainly in the occipital and cervical regions. Headache attributed to craniocervical dystonia specifically was rarely found, and it was described in only one patient out of 80 in one study. Treatment with botulinum neurotoxin is considered to be the first-line treatment for focal dystonias, including craniocervical dystonia, and besides reducing clinical severity, impairment, and pain scores among the patients with craniocervical dystonia, there were also descriptions of improvements in headaches attributed to craniocervical dystonia and other headaches associated with this dystonia. Headache attributed to craniocervical dystonia has been poorly studied. There is a need for more studies to evaluate its characteristics and treatment. © 2016 American Headache Society.

  20. Patterns of EMG-EMG coherence in limb dystonia

    NARCIS (Netherlands)

    Grosse, Pascal; Edwards, M.; Tijssen, M. A. J.; Schrag, A.; Lees, Andrew J.; Bhatia, K. P.; Brown, Peter

    2004-01-01

    Dystonia of the limbs may be due to a wide range of aetiologies and may cause major functional limitation. We investigated whether the previously described pathological 4 to 7 Hz drive to muscles in cervical dystonia is present in patients with aetiologically different types of dystonia of the upper

  1. Activity and topographic changes in the somatosensory system in embouchure dystonia.

    Science.gov (United States)

    Mantel, Tobias; Dresel, Christian; Altenmüller, Eckart; Zimmer, Claus; Noe, Jonas; Haslinger, Bernhard

    2016-11-01

    Embouchure dystonia is a highly disabling focal task-specific dystonia affecting professional brass players. This study was designed to analyze activity changes along with topographic representations in primary and nonprimary centers for somatosensory processing in patients with embouchure dystonia. We used event-related functional magnetic resonance imaging with automized tactile stimulation of dystonic (upper lip) and nondystonic (forehead and dorsal hand) body regions in 15 professional brass players with and without embouchure dystonia. Statistical analyses included whole-brain between-group comparisons of stimulation-induced activation and region-of-interest-based single patient analyses of topographic activation characteristics. Affected musicians revealed increased stimulation-induced activity in contralateral primary and bilateral secondary somatosensory representations of dystonic and nondystonic body regions as well as in the cerebellum ipsilateral to the left dystonic upper lip. Changes of somatotopic organization with altered intracortical distances and between-group differences of the centers of representations were found in the right primary and the bilateral secondary somatosensory cortex and in the left cerebellum. Positional variability of dystonic and nondystonic body regions was reduced with an emphasis on face representations. The present findings are supportive of the concept of an abnormal processing of somatosensory information in embouchure dystonia affecting multiple domains. The underlying neurophysiological mechanisms (eg, changes in inhibition, maladaptive plasticity, changes in baseline activity) remain unclear. The involvement of nondystonic body areas can be viewed in the context of possible compensation or an endophenotypic predisposition. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  2. Sensory-motor integration in focal dystonia.

    Science.gov (United States)

    Avanzino, Laura; Tinazzi, Michele; Ionta, Silvio; Fiorio, Mirta

    2015-12-01

    Traditional definitions of focal dystonia point to its motor component, mainly affecting planning and execution of voluntary movements. However, focal dystonia is tightly linked also to sensory dysfunction. Accurate motor control requires an optimal processing of afferent inputs from different sensory systems, in particular visual and somatosensory (e.g., touch and proprioception). Several experimental studies indicate that sensory-motor integration - the process through which sensory information is used to plan, execute, and monitor movements - is impaired in focal dystonia. The neural degenerations associated with these alterations affect not only the basal ganglia-thalamic-frontal cortex loop, but also the parietal cortex and cerebellum. The present review outlines the experimental studies describing impaired sensory-motor integration in focal dystonia, establishes their relationship with changes in specific neural mechanisms, and provides new insight towards the implementation of novel intervention protocols. Based on the reviewed state-of-the-art evidence, the theoretical framework summarized in the present article will not only result in a better understanding of the pathophysiology of dystonia, but it will also lead to the development of new rehabilitation strategies. Copyright © 2015 Elsevier Ltd. All rights reserved.

  3. Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: deep brain stimulation in childhood secondary dystonia.

    Science.gov (United States)

    Gimeno, Hortensia; Tustin, Kylee; Selway, Richard; Lin, Jean-Pierre

    2012-09-01

    Deep brain stimulation is now widely accepted as an effective treatment for children with primary generalized dystonia. More variable results are reported in secondary dystonias and its efficacy in this heterogeneous group has not been fully elucidated. Deep brain stimulation outcomes are typically reported using impairment-focused measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, which provide little information about function and participation outcomes or changes in non-motor areas. The aim is to demonstrate that in some cases of secondary dystonia, the sole use of impairment level measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, may be insufficient to fully evaluate outcome following deep brain stimulation. Six paediatric cases who underwent deep brain stimulation surgery with a minimum of one year follow up were selected on the basis of apparent non-response to deep brain stimulation, defined as a clinically insignificant change in the Burke-Fahn-Marsden Dystonia Movement Scale (<20%), but where other evaluation measures demonstrated clinical efficacy across several domains. Despite no significant change in Burke-Fahn-Marsden Dystonia Rating Scale scores following deep brain stimulation, parallel outcome measures demonstrated significant benefit in a range of child and family-centred goal areas including: pain and comfort, school attendance, seating tolerance, access to assistive technology and in some cases carer burden. Sole use of impairment-focused measures, are limited in scope to evaluate outcome following deep brain stimulation, particularly in secondary dystonias. Systematic study of effects across multiple dimensions of disability is needed to determine what deep brain stimulation offers patients in terms of function, participation, care, comfort and quality of life. Deep brain stimulation may offer meaningful change across multiple domains of functioning, disability and health even in the absence of significant change in

  4. A Beautician’s Dystonia: Long-Lasting Effect of Botulinum Toxin

    Directory of Open Access Journals (Sweden)

    Siria Di Martino

    2014-01-01

    Full Text Available Treatment options for dystonia are not curative but symptomatic; the treatment of choice for focal dystonias is repeated botulinum toxin injections. Here, we present the case of a 46-year-old beautician with focal dystonia in her left hand that affected her ability to work. Pharmacological treatment with clonazepam and gabapentin failed to resolve her symptoms and was discontinued due to side effects (sleepiness, gastrointestinal disorders. Intramuscular injection of botulinum toxin (incobotulinumtoxinA, Xeomin into the extensor digitorum communis (35 U, flexor carpi radialis (35 U, and flexor digitorum superficialis (30 U muscles resulted in complete resolution of symptoms at clinical assessments at 1, 3, 6, and 10 months after the injections, confirmed by the results of surface electromyography 10 months after treatment. The patient was able to work again 1 month after treatment. No reinjection has been necessary at the last evaluation (12 months after treatment. In conclusion, botulinum toxin is an effective treatment for focal dystonia that can have long-lasting effects and can improve patients’ ability to work and quality of life.

  5. Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?

    Science.gov (United States)

    Verbeek, Dineke S; Gasser, Thomas

    2016-01-01

    Genetic findings of the past years have provided ample evidence for a substantial etiologic heterogeneity of dystonic syndromes. While an increasing number of genes are being identified for Mendelian forms of isolated and combined dystonias using classical genetic mapping and whole-exome sequencing techniques, their precise role in the molecular pathogenesis is still largely unknown. Also, the role of genetic risk factors in the etiology of sporadic dystonias is still enigmatic. Only the systematic ascertainment and precise clinical characterization of very large cohorts with dystonia, combined with systematic genetic studies, will be able to unravel the complex network of factors that determine disease risk and phenotypic expression.

  6. Dystonia Associated with Idiopathic Slow Orthostatic Tremor

    Directory of Open Access Journals (Sweden)

    Christopher Kobylecki

    2016-02-01

    Full Text Available Background: We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor.Case Report: The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4–8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor.Discussion: Slow orthostatic tremor may be associated with dystonia and dystonic tremor.

  7. A practical approach to management of focal hand dystonia

    Directory of Open Access Journals (Sweden)

    Sanjay Pandey

    2015-01-01

    Full Text Available Dystonia can be focal, segmental, multifocal, generalized, or hemidystonia. Focal dystonia is localized to a specific part of the body. Overall upper limb is more commonly involved in focal dystonia than lower limb and since it starts from hand, focal hand dystonia (FHD is a more accepted terminology. Writer′s cramp and musician dystonia are commonest types of FHD. Typically this dystonia is task specific, but in some patients this specificity may be lost over a period of time. Segmental or generalized dystonia may also start as FHD, so a detailed clinical assessment is required, which should be supplemented by relevant investigations. Treatment includes oral medications, injection botulinum toxin, neurosurgery including neurostimulation, and rehabilitation. Role of injection botulinum toxin has been extensively studied in writer′s cramp patients and found to be effective; however, selection of muscles and techniques of injection are crucial in getting best results.

  8. Abnormalities of spatial discrimination in focal and generalized dystonia.

    Science.gov (United States)

    Molloy, F M; Carr, T D; Zeuner, K E; Dambrosia, J M; Hallett, M

    2003-10-01

    Sensory processing is impaired in focal hand dystonia (FHD), with most previous studies having evaluated only the symptomatic limb. The purpose of this study was to establish whether the sensory system is affected in other types of dystonias and whether the contralateral hand is also involved in FHD. We used a spatial acuity measure (Johnson-Van Boven-Phillips domes) to evaluate sensory spatial discrimination in both hands of patients with different forms of dystonias including primary generalized DYT1 dystonia (associated with a unique deletion in the DYT1 gene) (n = 13), FHD (n = 15), benign essential blepharospasm (n = 9), cervical dystonia (n = 10) and in age-matched controls. Clinical evaluation included the Fahn dystonia scale for the focal dystonia groups and the Marsden-Burke-Fahn scale for the generalized dystonia group. Spatial discrimination was normal in patients with DYT1 dystonia, despite all of these patients having hand dystonia. However, spatial discrimination thresholds were significantly increased in both hands in the focal dystonia groups (thresholds were similar for each group) and did not correlate significantly with either severity or duration of dystonic symptoms. Thresholds were significantly increased in the dominant hand compared with the non-dominant hand only within the FHD group. Our observations demonstrate involvement of both the dominant and non-dominant somatosensory cortices, and suggest that abnormal sensory processing is a fundamental disturbance in patients with focal dystonia. These findings of altered sensory processing in idiopathic focal but not generalized DYT1 dystonia suggest both a primary pathophysiological role for the phenomenon in focal dystonia and divergent pathophysiological processes in the two conditions.

  9. Diffuse Decreased Gray Matter in Patients with Idiopathic Craniocervical Dystonia: a Voxel-Based Morphometry Study

    Directory of Open Access Journals (Sweden)

    Camila Callegari Piccinin

    2015-01-01

    Full Text Available Background: Recent studies have addressed the role of structures other than the basal ganglia in the pathophysiology of craniocervical dystonia. Neuroimaging studies have attempted to identify structural abnormalities in craniocervical dystonia but a clear pattern of alteration has not been established. We performed whole brain evaluation using voxel-based morphometry to identify patterns of gray matter changes in craniocervical dystonia.Methods: We compared 27 patients with craniocervical dystonia matched in age and gender to 54 healthy controls. Voxel-based morphometry was used to compare gray matter volumes. We created a two-sample t-test corrected for subjects’ age and we tested with a level of significance of p<0.001 and false discovery rate correction (p<0.05. Results: Voxel-based morphometry demonstrated significant reductions of gray matter using p<0.001 in the cerebellar vermis IV/V, bilaterally in the superior frontal gyrus, precuneus, anterior cingulate and paracingulate, insular cortex, lingual gyrus and calcarine fissure; in the left hemisphere in the supplemementary motor area (SMA, inferior frontal gyrus, inferior parietal gyrus, temporal pole, supramarginal gyrus, rolandic operculum , hippocampus, middle occipital gyrus, cerebellar lobules IV/V, superior and middle temporal gyri; in the right hemisphere, the middle cingulate and precentral gyrus. Our study did not report any significant result using the false discovery rate correction. We also detected correlations between gray matter volume and age, disease duration, duration of botulinum toxin treatment and the Marsden-Fahn dystonia scale scores.Conclusions: We detected large clusters of gray matter changes chiefly in structures primarily involved in sensorimotor integration, motor planning, visuospatial function and emotional processing.

  10. Mind the gap: temporal discrimination and dystonia.

    Science.gov (United States)

    Sadnicka, A; Daum, C; Cordivari, C; Bhatia, K P; Rothwell, J C; Manohar, S; Edwards, M J

    2017-06-01

    One of the most widely studied perceptual measures of sensory dysfunction in dystonia is the temporal discrimination threshold (TDT) (the shortest interval at which subjects can perceive that there are two stimuli rather than one). However the elevated thresholds described may be due to a number of potential mechanisms as current paradigms test not only temporal discrimination but also extraneous sensory and decision-making parameters. In this study two paradigms designed to better quantify temporal processing are presented and a decision-making model is used to assess the influence of decision strategy. 22 patients with cervical dystonia and 22 age-matched controls completed two tasks (i) temporal resolution (a randomized, automated version of existing TDT paradigms) and (ii) interval discrimination (rating the length of two consecutive intervals). In the temporal resolution task patients had delayed (P = 0.021) and more variable (P = 0.013) response times but equivalent discrimination thresholds. Modelling these effects suggested this was due to an increased perceptual decision boundary in dystonia with patients requiring greater evidence before committing to decisions (P = 0.020). Patient performance on the interval discrimination task was normal. Our work suggests that previously observed abnormalities in TDT may not be due to a selective sensory deficit of temporal processing as decision-making itself is abnormal in cervical dystonia. © 2017 EAN.

  11. Acute dystonia mimicking angioedema of the tongue

    DEFF Research Database (Denmark)

    Rasmussen, Eva Rye; Pallesen, Kristine A U; Bygum, Anette

    2013-01-01

    We report a case of acute dystonia of the face, jaw and tongue caused by metoclopramide and mimicking angioedema. The patient had attacks for several years before the correct diagnosis was made and we present the first ever published video footage of an attack. This adverse drug reaction is known...

  12. Genetics Home Reference: hypermanganesemia with dystonia

    Science.gov (United States)

    ... or Free article on PubMed Central Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, ... or Free article on PubMed Central Tuschl K, Clayton PT, Gospe SM Jr, Mills PB. Dystonia/Parkinsonism, ...

  13. Clinical-pathomorphological correlation in patients with symptomatic dystonias

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    Ivanović Nataša

    2002-01-01

    Full Text Available Symptomatic dystonia can be the result of various metabolic, degenerative diseases, the consumption of certain medications or exposure to toxic agents. However, only symptomatic dystonia with focal structural lesion provides a significant "window" for, at least indirect, perception of aetiopa-thogenesis and pathomorphological substratum of idiopathic dystonia. Our study included 57 patients with symptomatic dystonia, which as a base had focal or multifocal lesions, of whom 7 patients had generalized dystonia, 18 hemidystonia, 6 segmental dystonia, 7 torticollis, 6 blepharospasm, 7 hand dystonia, 3 spasmodic dysphonia, and 3 had oromandibular dystonia. Stroke was highly statistically the most frequent cause of structural lesions (33/57 or 58%. Relevant pathomorphological changes were present in 50/57 (88% patients, of whom 25 (50% had lesion in the lenticular nucleus (including individual damage of the putamen and globus pallidus, 12/50 (24% had damage of the thalamus and 6/50 (12% had damage of the brainstem. Generalized dystonia was most frequently associated with bilateral lesion of the putamen, hemidystonia with lesion of contralateral putamen, torticollis with damage of the caudate nucleus, hand dystonia with lesion of the thalamus and blepharospasm with lesion of the upper brainstem.

  14. Efficacy of zolpidem for dystonia: a study among different subtypes

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    Yoshimichi eMiyazaki

    2012-04-01

    Full Text Available Although there are some newly-developed options to treat dystonia, its medical treatment is not always satisfactory. Zolpidem, an imidazopyridine agonist with a high affinity on benzodiazepine subtype receptor BZ1(ω1 , was found to improve clinical symptoms of dystonia in a limited number of case reports. To investigate what subtype of dystonia is responsive to the therapy, we conducted an open label study to assess the efficacy of zolpidem (5-20mg in 34 patients suffering from miscellaneous types of dystonia using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS. Patients were entered into the study if they had been refractory to other medications as evaluated by BFMDRS (no change in the previous 2 successive visits. After zolpidem therapy, the scores in the patients as a whole were decreased from 7.2±7.9 to 5.5±5.0 (P=0.042. Patients with generalized dystonia, Meige syndrome/blepharospasm, and hand dystonia improved in the scale by 27.8%, 17.8% and 31.0%, respectively, whereas no improvement was found in cervical dystonia patients. Overall response rate among patients were comparable to that of trihexyphenidyl. Zolpidem may be a therapeutic option for generalized dystonia, Meige syndrome and hand dystonia including musician’s. Drowsiness was the dose-limiting factor.

  15. Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

    Directory of Open Access Journals (Sweden)

    Angelika eRichter

    2015-11-01

    Full Text Available Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e. dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans, and summarizes similar hereditary movement disorders reported in domestic animals.

  16. A pilot trial of square biphasic pulse deep brain stimulation for dystonia: The BIP dystonia study.

    Science.gov (United States)

    Almeida, Leonardo; Martinez-Ramirez, Daniel; Ahmed, Bilal; Deeb, Wissam; Jesus, Sol De; Skinner, Jared; Terza, Matthew J; Akbar, Umer; Raike, Robert S; Hass, Chris J; Okun, Michael S

    2017-04-01

    Dystonia often has inconsistent benefits and requires more energy-demanding DBS settings. Studies suggest that squared biphasic pulses could provide significant clinical benefit; however, dystonia patients have not been explored. To assess safety and tolerability of square biphasic DBS in dystonia patients. This study included primary generalized or cervical dystonia patients with bilateral GPi DBS. Square biphasic pulses were implemented and patients were assessed at baseline, immediately postwashout, post-30-minute washout, 1 hour post- and 2 hours postinitiation of investigational settings. Ten participants completed the study. There were no patient-reported or clinician-observed side effects. There was improvement across time on the Toronto Western Spasmodic Torticollis Rating Scale (χ 2  = 10.7; P = 0.031). Similar improvement was detected in objective gait measurements. Square biphasic stimulation appears safe and feasible in dystonia patients with GPi DBS. Further studies are needed to evaluate possible effectiveness particularly in cervical and gait features. © 2016 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  17. Research Priorities in Limb and Task-Specific Dystonias

    Science.gov (United States)

    Pirio Richardson, Sarah; Altenmüller, Eckart; Alter, Katharine; Alterman, Ron L.; Chen, Robert; Frucht, Steven; Furuya, Shinichi; Jankovic, Joseph; Jinnah, H. A.; Kimberley, Teresa J.; Lungu, Codrin; Perlmutter, Joel S.; Prudente, Cecília N.; Hallett, Mark

    2017-01-01

    Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including: the development of

  18. Research Priorities in Limb and Task-Specific Dystonias

    Directory of Open Access Journals (Sweden)

    Sarah Pirio Richardson

    2017-05-01

    Full Text Available Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including

  19. Non-Invasive Brain Stimulation for Treatment of Focal Hand Dystonia: Update and Future Direction.

    Science.gov (United States)

    Cho, Hyun Joo; Hallett, Mark

    2016-05-01

    Focal hand dystonia (FHD) is characterized by excessive and unwanted muscle activation in both the hand and arm resulting in impaired performance in particular tasks. Understanding the pathophysiology of FHD has progressed significantly for several decades and this has led to consideration of other potential therapies such as non-invasive brain stimulation (NIBS). A number of studies have been conducted to develop new therapy for FHD using transcranial magnetic stimulation and transcranial direct current stimulation. In this paper, we review previous studies and describe the potential therapeutic use of NIBS for FHD. We also discuss the future direction of NIBS to treat FHD.

  20. The role of dopamine and serotonin in cervical dystonia

    NARCIS (Netherlands)

    Zoons, E.

    2018-01-01

    Cervical dystonia (CD) is a movement disorder accompanied by non-motor symptoms like depressive symptoms and anxiety. Neuroimaging has been used to investigate brain regions involved in the pathophysiology of focal dystonia, including CD. We describe the used neuroimaging techniques and why focal

  1. Idiopathic dystonia. Clinical profile of 76 Brazilian patients.

    Science.gov (United States)

    Andrade, L A; Ferraz, H B

    1992-12-01

    Dystonia may be classified by age of onset (childhood, adolescence, adult onset), body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized) and etiology (idiopathic and symptomatic). We studied 76 patients with idiopathic dystonia among 122 cases of dystonic syndrome (62.3% of the total). There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients). The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

  2. Idiopathic dystonia clinical, profile of 76 brazilian patients

    Directory of Open Access Journals (Sweden)

    Luiz A. F. Andrade

    1992-12-01

    Full Text Available Dystonia may be classified by age of onset (childhood, adolescence, adult onset, body distribution of the abnormal movements (focal, segmental, unilateral, multifocal and generalized and etiology (idiopathic and symptomatic. We studied 76 patients with idiopathic dystonia among 122; cases of dystonic syndrome (62.3% of the total. There were 48 female and 28 male patients. Adult-onset focal dystonia was the most frequent feature (37 patients. The onset of generalized dystonia was more frequently seen under the age of 20, whereas focal and segmental dystonia usually started over this age. Postural tremor of the hands was observed in 19.7% of the patients. Spasmodic torticollis was the most prevalent form of dystonia overall. Except for writer's cramp, which occurred more frequently in males, and generalized dystonia, which was equally divided between sexes, all other forms were more frequent in females. Our data suggest that differences in racial origin, social and economical status and environmental factors do not account for a different manifestation in dystonia pattern.

  3. Serotonergic perturbations in dystonia disorders a systematic review

    NARCIS (Netherlands)

    Smit, M; Bartels, Anna; van Faassen, M; Kuiper, A; Niezen-Koning, K E; Kema, I P; Dierckx, R A; de Koning, T J; Tijssen, M A

    Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions. Emerging data describe high prevalences of non-motor symptoms, including psychiatric co-morbidity, as part of the phenotype of dystonia. Basal ganglia serotonin and serotonin-dopamine

  4. Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias

    Science.gov (United States)

    Waugh, Jeff L.; Kuster, John K.; Levenstein, Jacob M.; Makris, Nikos; Multhaupt-Buell, Trisha J.; Sudarsky, Lewis R.; Breiter, Hans C.; Sharma, Nutan; Blood, Anne J.

    2016-01-01

    Background Dystonia, a debilitating movement disorder characterized by abnormal fixed positions and/or twisting postures, is associated with dysfunction of motor control networks. While gross brain lesions can produce secondary dystonias, advanced neuroimaging techniques have been required to identify network abnormalities in primary dystonias. Prior neuroimaging studies have provided valuable insights into the pathophysiology of dystonia, but few directly assessed the gross volume of motor control regions, and to our knowledge, none identified abnormalities common to multiple types of idiopathic focal dystonia. Methods We used two gross volumetric segmentation techniques and one voxelwise volumetric technique (voxel based morphometry, VBM) to compare regional volume between matched healthy controls and patients with idiopathic primary focal dystonia (cervical, n = 17, laryngeal, n = 7). We used (1) automated gross volume measures of eight motor control regions using the FreeSurfer analysis package; (2) blinded, anatomist-supervised manual segmentation of the whole thalamus (also gross volume); and (3) voxel based morphometry, which measures local T1-weighted signal intensity and estimates gray matter density or volume at the level of single voxels, for both whole-brain and thalamus. Results Using both automated and manual gross volumetry, we found a significant volume decrease only in the thalamus in two focal dystonias. Decreases in whole-thalamic volume were independent of head and brain size, laterality of symptoms, and duration. VBM measures did not differ between dystonia and control groups in any motor control region. Conclusions Reduced thalamic gross volume, detected in two independent analyses, suggests a common anatomical abnormality in cervical dystonia and spasmodic dysphonia. Defining the structural underpinnings of dystonia may require such complementary approaches. PMID:27171035

  5. Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia

    Directory of Open Access Journals (Sweden)

    Antonella Conte

    2017-11-01

    Full Text Available Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test–retest and inter-rater reliability, using a simple psychophysical test. Temporal discrimination is disordered in a number of basal ganglia diseases including adult-onset dystonia, of which the two most common phenotypes are cervical dystonia and blepharospasm. The causes of adult-onset focal dystonia are unknown; genetic, epigenetic, and environmental factors are relevant. Abnormal TDTs in adult-onset dystonia are associated with structural and neurophysiological changes considered to reflect defective inhibitory interneuronal processing within a network which includes the superior colliculus, basal ganglia, and primary somatosensory cortex. It is hypothesized that abnormal temporal discrimination is a mediational endophenotype and, when present in unaffected relatives of patients with adult-onset dystonia, indicates non-manifesting gene carriage. Using the mediational endophenotype concept, etiological factors in adult-onset dystonia may be examined including (i the role of environmental exposures in disease penetrance and expression; (ii sexual dimorphism in sex ratios at age of onset; (iii the pathogenesis of non-motor symptoms of adult-onset dystonia; and (iv subcortical mechanisms in disease pathogenesis.

  6. Phenomenology and classification of dystonia: a consensus update.

    Science.gov (United States)

    Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B; Delong, Mahlon R; Fahn, Stanley; Fung, Victor S C; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A; Klein, Christine; Lang, Anthony E; Mink, Jonathan W; Teller, Jan K

    2013-06-15

    This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

  7. Efficiency of Vasotropic Therapy in Children with Hypertensive Neurocirculatory Dystonia

    Directory of Open Access Journals (Sweden)

    I.V. Shlimkevych

    2015-02-01

    Full Text Available This paper examines the clinical characteristics of the disease and cerebral blood flow features in patients with hypertensive neurocirculatory dystonia. It is shown that children have pronounced discirculatory changes in the arterial and venous system. They are characterized by dystonia against the background of altered vascular wall stiffness. The use of nootropic agent vinpocetine in comprehensive treatment of patients with hypertensive neurocirculatory dystonia is approved. It is proved that vinpocetine application induces the effective correction of clinical and functional changes and promotes the optimization of key parameters of cerebral blood flow in the majority of surveyed children.

  8. Genetics Home Reference: task-specific focal dystonia

    Science.gov (United States)

    ... other fine-motor activities such as shaving or typing. Musician's dystonia is a form of task-specific ... and wrist muscles. This condition reduces finger coordination, speed, and endurance while playing. Musicians who play woodwind ...

  9. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    ... putamen. These regions are critical for normal movement, learning, and memory. It is unclear why the effects ... Uncontrolled or Slow Health Topic: Dystonia Health Topic: Movement Disorders Genetic and Rare Diseases Information Center (1 link) ...

  10. Oral methylphenidate for the treatment of refractory facial dystonias.

    Science.gov (United States)

    Eftekhari, Kian; Choe, Christina H; Vagefi, M Reza; Gausas, Roberta E; Eckstein, Lauren A

    2015-01-01

    Oral methylphenidate (Ritalin, Novartis) has been reported to alleviate symptoms of benign essential blepharospasm in an off-label application. This series presents 3 patients with refractory periorbital and facial dystonias, including blepharospasm, apraxia of eyelid opening, and oromandibular dystonia unresponsive to standard treatments who experienced a response to oral methylphenidate therapy. While the mechanisms for facial dystonias have not been elucidated, there is evidence to suggest that they are on the spectrum with Parkinson disease. Given the role of dopamine loss in the pathogenesis of Parkinson, the authors' speculate that methylphenidate may be acting on the pathway directly involved in facial dystonias. To the authors' knowledge, this is the first report of a case of successful treatment of blepharospasm refractory to upper eyelid myectomy with methylphenidate monotherapy.

  11. Clinical characterization of dystonia in adult patients with Huntington's disease

    NARCIS (Netherlands)

    van de Zande, N A; Massey, T H; McLauchlan, D; Pryce Roberts, A; Zutt, R; Wardle, M; Payne, G C; Clenaghan, C; Tijssen, M A J; Rosser, A E; Peall, K J

    Background and purposeHuntington's disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is also recognized as part of the HD motor phenotype, although little work detailing its prevalence, distribution, severity and impact on

  12. Role of ARX Gene in Infantile Spasms and Dystonia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-08-01

    Full Text Available The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA.

  13. Focal dystonia in musicians: From phenomenology to therapy

    Directory of Open Access Journals (Sweden)

    Hans-Christian Jabusch

    2006-01-01

    Full Text Available Background: Musician's dystonia is a task-specific movement disorder which manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately 1% of all professional musicians are affected.Etiology and Pathophysiology: The pathophysiology of the disorder is still unclear. Findings include (a reduced inhibition in different levels of the central nervous system, (b maladaptive plasticity, e.g. in the somatosensory cortex and in the basal ganglia, and (c alterations in sensorimotor processing. Epidemiological data demon-strated a higher risk for those musicians who play instruments requiring maximal fine-motorskills. For instruments where workload differs across hands, focal dystonia appears more often in the more intensely used hand. In psychological studies, musicians with dystonia had more perfectionist tendencies than healthy musicians. These findings streng then the assumption that behavioral factors may be involved in the etiology of musician's dystonia. Hereditary factors may play a greater role than previously assumed. Preliminary findings suggest a genetic contributiont o focal task-specific dystonia with phenotypic variations including musician's dystonia.Treatment: Treatment options for musician's dystonia include pharmacological interventions such as administration of Trihexyphenidyl or Botulinum Toxin-A as well as retraining programs and ergonomic changes in the instrument. A long-term follow-up study was performed in 144 patients with musician's dystonia. The outcome was revealed on average 8.4 years after onset of symptoms. Outcome was assessed by patients' subjective rating of cumulative treatmentresponse and response to individual therapies. Seventy-seven patients (54% reported an alleviation of symptoms: 33% of the patients with Trihexyphenidyl, 49% with Botulinum Toxin, 50% with pedagogical retraining, 56% with unmonitored

  14. Mental rotation and working memory in musicians' dystonia.

    Science.gov (United States)

    Erro, Roberto; Hirschbichler, Stephanie T; Ricciardi, Lucia; Ryterska, Agata; Antelmi, Elena; Ganos, Christos; Cordivari, Carla; Tinazzi, Michele; Edwards, Mark J; Bhatia, Kailash P

    2016-11-01

    Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts. It is unknown whether patients with musicians' dystonia would display similar deficits, reinforcing the concept of shared pathophysiology. Eight patients with musicians' dystonia and eight healthy musicians matched for age, gender and musical education, performed a number of tasks assessing mental rotation of body parts and objects as well as verbal and spatial working memories abilities. There were no differences between patients and healthy musicians as to accuracy and reaction times in any of the tasks. Patients with musicians' dystonia have intact abilities in mentally rotating body parts, suggesting that this disorder relies on a highly selective disruption of movement planning and execution that manifests only upon playing a specific instrument. We further demonstrated that mental rotation of body parts and objects engages, at least partially, different cognitive networks. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Emerging Concepts in the Physiological Basis of Dystonia

    Science.gov (United States)

    Quartarone, A.; Hallett, M.

    2014-01-01

    Work over the past two decades has led to substantial changes in our understanding of dystonia pathophysiology. Three general abnormalities appear to underlie the pathophysiological substrate. The first line is a loss of inhibition. This makes sense considering that it may be responsible for the excess of movement and for the overflow phenomena seen in dystonia. A second abnormality is sensory dysfunction which is related to the mild sensory complaints in patients with focal dystonias and may be responsible for some of the motor dysfunction. Third, evidence from animal models of dystonia as well as from patients with primary dystonia has revealed significant alterations of synaptic plasticity characterised by a disruption of homeostatic plasticity, with a prevailing facilitation of synaptic potentiation, together with the loss of synaptic inhibitory processes. We speculate that during motor learning this abnormal plasticity may lead to an abnormal sensorimotor integration leading to consolidation of abnormal motor engrams. If so, then removing this abnormal plasticity might have little immediate effect on dystonic movements because bad motor memories have already been “learned” and are difficult to erase. These considerations might explain the delayed clinical effects of DBS in patients with generalized dystonia. Current lines of research will be discussed from a network perspective. PMID:23893452

  16. Inhibitory rTMS applied on somatosensory cortex in Wilson's disease patients with hand dystonia.

    Science.gov (United States)

    Lozeron, Pierre; Poujois, Aurélia; Meppiel, Elodie; Masmoudi, Sana; Magnan, Thierry Peron; Vicaut, Eric; Houdart, Emmanuel; Guichard, Jean-Pierre; Trocello, Jean-Marc; Woimant, France; Kubis, Nathalie

    2017-10-01

    Hand dystonia is a common complication of Wilson's disease (WD), responsible for handwriting difficulties and disability. Alteration of sensorimotor integration and overactivity of the somatosensory cortex have been demonstrated in dystonia. This study investigated the immediate after effect of an inhibitory repetitive transcranial magnetic stimulation (rTMS) applied over the somatosensory cortex on the writing function in WD patients with hand dystonia. We performed a pilot prospective randomized double-blind sham-controlled crossover rTMS study. A 20-min 1-Hz rTMS session, stereotaxically guided, was applied over the left somatosensory cortex in 13 WD patients with right dystonic writer's cramp. After 3 days, each patient was crossed-over to the alternative treatment. Patients were clinically evaluated before and immediately after each rTMS session with the Unified Wilson's Disease rating scale (UWDRS), the Writers' Cramp Rating Scale (WCRS), a specifically designed scale for handwriting difficulties in Wilson's disease patients (FAR, flow, accuracy, and rhythmicity evaluation), and a visual analog scale (VAS) for handwriting discomfort. No significant change in UWDRS, WCRS, VAS, or FAR scores was observed in patients treated with somatosensory inhibitory rTMS compared to the sham protocol. The FAR negatively correlated with UWDRS (r = -0.6; P = 0.02), but not with the WCRS score, disease duration, MRI diffusion lesions, or with atrophy scores. In our experimental conditions, a single inhibitory rTMS session applied over somatosensory cortex did not improve dystonic writer cramp in WD patients.

  17. Temporal discrimination, a cervical dystonia endophenotype: penetrance and functional correlates.

    Science.gov (United States)

    Kimmich, Okka; Molloy, Anna; Whelan, Robert; Williams, Laura; Bradley, David; Balsters, Joshua; Molloy, Fiona; Lynch, Tim; Healy, Daniel G; Walsh, Cathal; O'Riordan, Seán; Reilly, Richard B; Hutchinson, Michael

    2014-05-01

    The pathogenesis of adult-onset primary dystonia remains poorly understood. There is variable age-related and gender-related expression of the phenotype, the commonest of which is cervical dystonia. Endophenotypes may provide insight into underlying genetic and pathophysiological mechanisms of dystonia. The temporal discrimination threshold (TDT)-the shortest time interval at which two separate stimuli can be detected as being asynchronous-is abnormal both in patients with cervical dystonia and in their unaffected first-degree relatives. Functional magnetic resonance imaging (fMRI) studies have shown that putaminal activation positively correlates with the ease of temporal discrimination between two stimuli in healthy individuals. We hypothesized that abnormal temporal discrimination would exhibit similar age-related and gender-related penetrance as cervical dystonia and that unaffected relatives with an abnormal TDT would have reduced putaminal activation during a temporal discrimination task. TDTs were examined in a group of 192 healthy controls and in 158 unaffected first-degree relatives of 84 patients with cervical dystonia. In 24 unaffected first-degree relatives, fMRI scanning was performed during a temporal discrimination task. The prevalence of abnormal TDTs in unaffected female relatives reached 50% after age 48 years; whereas, in male relatives, penetrance of the endophenotype was reduced. By fMRI, relatives who had abnormal TDTs, compared with relatives who had normal TDTs, had significantly less activation in the putamina and in the middle frontal and precentral gyri. Only the degree of reduction of putaminal activity correlated significantly with worsening of temporal discrimination. These findings further support abnormal temporal discrimination as an endophenotype of cervical dystonia involving disordered basal ganglia circuits. © 2014 International Parkinson and Movement Disorder Society.

  18. l-Dopa in dystonia: A modern perspective.

    Science.gov (United States)

    Maas, Roderick P P W M; Wassenberg, Tessa; Lin, Jean-Pierre; van de Warrenburg, Bart P C; Willemsen, Michèl A A P

    2017-05-09

    "Every child exhibiting dystonia merits an l-dopa trial, lest the potentially treatable condition of dopa-responsive dystonia (DRD) is missed" has been a commonly cited and highly conserved adage in movement disorders literature stemming from the 1980s. We here provide a historical perspective on this statement, discuss the current diagnostic and therapeutic applications of l-dopa in everyday neurologic practice, contrast these with its approved indications, and finish with our view on both a diagnostic and therapeutic trial in children and adults with dystonia. In light of the relatively low prevalence of DRDs, the large interindividual variation in the required l-dopa dose, the uncertainty about an adequate trial duration, the substantial advances in knowledge on etiology and pathophysiology of these disorders, and the availability of various state-of-the-art diagnostic tests, we think that a diagnostic l-dopa trial as a first step in the approach of early-onset dystonia (≤25 years) is outdated. Rather, in high-resource countries, we suggest to use l-dopa after biochemical corroboration of a defect in dopamine biosynthesis, in genetically confirmed DRD, or if nigrostriatal degeneration has been demonstrated by nuclear imaging in adult patients presenting with lower limb dystonia. Furthermore, our literature study on the effect of a therapeutic trial to gain symptomatic relief revealed that l-dopa has occasionally proven beneficial in several established "non-DRDs" and may therefore be considered in selected cases of dystonia due to other causes. In summary, we argue against the application of l-dopa in every patient with early-onset dystonia and support a more rational therapeutic use. © 2017 American Academy of Neurology.

  19. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

    OpenAIRE

    REILLY, RICHARD; WHELAN, ROBERT

    2009-01-01

    PUBLISHED Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination thresholds (TDTs) are abnormal in adult-onset primary torsion dystonia, but the...

  20. Pregnancy and Delivery in a Generalized Dystonia Patient Treated with Internal Globus Pallidal Deep Brain Stimulation: a Case Report.

    Science.gov (United States)

    Park, Hye Ran; Lee, Jae Meen; Park, Hyeyoung; Shin, Chae Won; Kim, Han Joon; Park, Hee Pyoung; Kim, Dong Gyu; Jeon, Beom Seok; Paek, Sun Ha

    2017-01-01

    Internal globus pallidus (GPi) deep brain stimulation (DBS) has been widely accepted as an effective treatment modality of medically refractory dystonia. However, there have been few studies regarding the safety issue of pregnancy and childbirth related with DBS. This report describes a female patient who was pregnant and delivered a baby after GPi DBS surgery. A 33-year-old female patient with acquired generalized dystonia underwent bilateral GPi DBS implantation. She obtained considerable improvement in both movement and disability after DBS implantation. Four years later, she was pregnant and the obstetricians consulted us about the safety of the delivery. At 38-weeks into pregnancy, a scheduled caesarian section was carried out under general anesthesia. After induction using thiopental and succinylcholine, intubation was done quickly, followed by DBS turn off. For hemostasis, only bipolar electrocautery was used. Before awakening from the anesthesia, DBS was turned on as the same parameters previously adjusted. After delivery, she could feed her baby by herself, because the dystonia of left upper extremity and hand was improved. Until now, she has been showing continual improvement and being good at housework, carrying for children, with no trouble in daily life. This observation indicates that the patients who underwent DBS could safely be pregnant and deliver a baby.

  1. Familial Paroxysmal Exercise-Induced Dystonia: Atypical Presentation of Autosomal Dominant GTP-Cyclohydrolase 1 Deficiency

    Science.gov (United States)

    Dale, Russell C.; Melchers, Anna; Fung, Victor S. C.; Grattan-Smith, Padraic; Houlden, Henry; Earl, John

    2010-01-01

    Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced…

  2. Improvement of both dystonia and tics with 60 Hz pallidal deep brain stimulation.

    Science.gov (United States)

    Hwynn, Nelson; Tagliati, Michele; Alterman, Ron L; Limotai, Natlada; Zeilman, Pamela; Malaty, Irene A; Foote, Kelly D; Morishita, Takashi; Okun, Michael S

    2012-09-01

    Deep brain stimulation has been utilized in both dystonia and in medication refractory Tourette syndrome. We present an interesting case of a patient with a mixture of disabling dystonia and Tourette syndrome whose coexistent dystonia and tics were successfully treated with 60 Hz-stimulation of the globus pallidus region.

  3. Clinimetric testing of the comprehensive cervical dystonia rating scale.

    Science.gov (United States)

    Comella, Cynthia L; Perlmutter, Joel S; Jinnah, Hyder A; Waliczek, Tracy A; Rosen, Ami R; Galpern, Wendy R; Adler, Charles A; Barbano, Richard L; Factor, Stewart A; Goetz, Christopher G; Jankovic, Joseph; Reich, Stephen G; Rodriguez, Ramon L; Severt, William L; Zurowski, Mateusz; Fox, Susan H; Stebbins, Glenn T

    2016-04-01

    The aim of this study was to test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability, and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure. Ten dystonia experts rated subjects with cervical dystonia using the comprehensive scale. Clinimetric techniques assessed each module of the scale for reliability, item correlation, and factor structure. There were 208 cervical dystonia patients (73% women; age, 59 ± 10 years; duration, 15 ± 12 years). Internal consistency of the motor severity subscale was acceptable (Cronbach's alpha = 0.57). Item to total correlations showed that elimination of items with low correlations (Rating Scale are internally consistent with a logical factor structure. © 2016 International Parkinson and Movement Disorder Society.

  4. Cortical plasticity and its implications for focal hand dystonia.

    Science.gov (United States)

    Opavsky, Robert; Hlustik, Petr; Kanovsky, Petr

    2006-11-01

    The exact origin of focal dystonias has not been elucidated so far. Aberrant plasticity of the brain cortex is suspected to be a crucial factor in the development of this group of movement disorders. The aim of this article is to summarize recent findings on the etiopathogenesis of focal hand dystonias with a focus on the role of abnormal cortical plasticity. A search of the literature mainly from 1995 to 2005 was done using the PubMed and Ovid search engines. English-language articles were identified using the following keywords: focal hand dystonia or writer's cramp and cortical plasticity, sensorimotor, imaging. Additional references were found through bibliography reviews of relevant articles. The data from neurophysiological and imaging studies, as well as clinical observation, in focal hand dystonia suggest multiple failures at different levels of the somatosensory and motor systems, particularly in the brain cortex. This disorders lead to attenuation of inhibitory and fortification of excitatory processes. The emerging theory presumes that a maladaptive plasticity of brain cortex with abnormal sensorimotor intergration can evolve in predisposed individuals. Consequent methods of management of focal hand dystonias are outlined.

  5. Reorganization of the Human Somatosensory Cortex in Hand Dystonia

    Directory of Open Access Journals (Sweden)

    Maria Jose Catalan

    2012-05-01

    Full Text Available Background and Purpose: Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET can be use to demonstrate functional localization of receptive fields. Methods: A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H215O PET. Results: The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished. Conclusions: These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.

  6. What is new in tics, dystonia and chorea?

    Science.gov (United States)

    Macerollo, Antonella; Martino, Davide

    2016-08-01

    Movement disorders comprise hyperkinetic involuntary movements (eg tremor, myoclonus, tics, dystonia and chorea) and hypokinetic (parkinsonism) disorders. Tics are cardinal features of primary tic disorders encompassing Tourette syndrome (TS), but are also found in some neurodegenerative conditions and may be induced by psychoactive substances. The first line treatment for tics is pharmacological (mainly dopamine receptor blockers or alpha-2 adrenergic agonists) and behavioural. Dystonia and chorea syndromes are considerably heterogeneous in aetiology, and age at onset, body distribution of the movement disorder, accompanying neurological motor and non-motor features, and systemic manifestations are all important to reach a correct aetiological diagnosis. While symptomatic pharmacological treatment remains the mainstay of treatment for choreas, deep brain stimulation surgery has a well-defined place in the management of medically refractory dystonia. © 2016 Royal College of Physicians.

  7. Shock Waves in the Treatment of Muscle Hypertonia and Dystonia

    Directory of Open Access Journals (Sweden)

    Laura Mori

    2014-01-01

    Full Text Available Since 1997, focused shock waves therapy (FSWT has been reported to be useful in the treatment of muscle hypertonia and dystonia. More recently, also radial shock wave therapy (RSWT has been successfully used to treat muscle hypertonia. The studies where FSWT and RSWT have been used to treat muscle hypertonia and dystonia are reviewed in this paper. The more consistent and long lasting results were obtained in the lower limb muscles of patients affected by cerebral palsy with both FSWT and RSWT and in the distal upper limb muscles of adult stroke patients using FSWT. The most probable mechanism of action is a direct effect of shock waves on muscle fibrosis and other nonreflex components of muscle hypertonia. However, we believe that up to now the biological effects of shock waves on muscle hypertonia and dystonia cannot be clearly separated from a placebo effect.

  8. Early Illustrations of Geste Antagoniste in Cervical and Generalized Dystonia

    Directory of Open Access Journals (Sweden)

    Emmanuel Broussolle

    2015-09-01

    Full Text Available Background: Geste antagoniste, or sensory trick, is a voluntary maneuver that temporarily reduces the severity of dystonic postures or movements. We present a historical review of early reports and illustrations of geste antagoniste.Results: In 1894, Brissaud described this phenomenon in Paris in patients with torticollis. He noted that a violent muscular contraction could be reversed by a minor voluntary action. He considered the improvement obtained by what he called “simple mannerisms, childish behaviour or fake pathological movements” was proof of the psychogenic origin of what he named mental torticollis. This concept was supported by photographical illustrations of the patients. The term geste antagoniste was used by Brissaud’s pupils, Meige and Feindel, in their 1902 monograph on movement disorders. Other reports and illustrations of this sign were published in Europe between 1894 and 1906. Although not mentioned explicitly, geste antagoniste was also illustrated in a case report of generalized dystonia in Oppenheim’s 1911 seminal description of dystonia musculorum deformans in Berlin.Discussion: Brissaud-Meige’s misinterpretation of the geste antagoniste unfortunately anchored the psychogenic origin of dystonia for decades. In New York, Herz brought dystonia back into the realm of organic neurology in 1944. Thereafter, it was given prominence by other authors, notably Fahn and Marsden in the 1970–1980s. Nowadays, neurologists routinely investigate for geste antagoniste when a dystonic syndrome is suspected, because it provides a further argument in favor of dystonia. The term alleviating maneuver was proposed in 2014 to replace sensory trick or geste antagoniste. This major sign is now part of the motor phenomenology of the 2013 Movement Disorder Society’s classification of dystonia.

  9. Distonia psicogênica: relato de dois casos Psychogenic dystonia: report of two cases

    Directory of Open Access Journals (Sweden)

    ANTONIO PEDRO VARGAS

    2000-06-01

    ; psychological examination showed severe depression, hypochondria and obsessive disorder. Patient 2: a female that presented with irregular limb tremors that disappeared with distraction and left foot dystonia nine years ago; she gradually lost her walk capacity; she complained pain in lumbar area and in her left limb, psychological examination showed infantile behaviour, low frustration tolerance, impulsivity and self-aggression. Their complementary exams showed no alterations and they had no reponse to specific pharmacological treatment. Dystonia is rarely psychogenic, but this etiology is suggested when clinical characteristics are inconsistent and incongrous with a classical disorder. It shoud be part of differential diagnosis when appears in association with other somatization or psychiatric disorders.

  10. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    DEFF Research Database (Denmark)

    Ha, Ainhi D; Parratt, Kaitlyn L; Rendtorff, Nanna D

    2012-01-01

    , pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand...... of their dystonia regardless of age of onset. Within our 3 kindreds, we observed relative intrafamilial homogeneity but interfamilial variation. The median time to the development of moderate-severely disabling dystonia in these subjects was 11 years. Associated features included progressive cognitive decline...

  11. PET activation in basal ganglia disorders: Parkinson's disease and dystonia

    International Nuclear Information System (INIS)

    Ceballos-Baumann, A.O.; Boecker, H.; Conrad, B.

    1997-01-01

    This article reviews PET activation studies with performance of different motor paradigms (joy-stick movements, imagination of movement, writing) in patients with movement disorders. The focus will be on Parkinson's disease (PD) and dystonia. PET findings will be related to clinical and electrophysiological observations. PET activation studies before and after therapeutic interventions such as pallidotomy in Parkinson's disease and botulinum toxin in writer's cramp are described. The contribution of PET activation studies to the understanding of the pathophysiology of dystonia and PD is discussed. (orig.) [de

  12. Motor unit abnormalities in Dystonia musculorum mice.

    Directory of Open Access Journals (Sweden)

    Yves De Repentigny

    Full Text Available Dystonia musculorum (dt is a mouse inherited sensory neuropathy caused by mutations in the dystonin gene. While the primary pathology lies in the sensory neurons of dt mice, the overt movement disorder suggests motor neurons may also be affected. Here, we report on the contribution of motor neurons to the pathology in dt(27J mice. Phenotypic dt(27J mice display reduced alpha motor neuron cell number and eccentric alpha motor nuclei in the ventral horn of the lumbar L1 spinal cord region. A dramatic reduction in the total number of motor axons in the ventral root of postnatal day 15 dt(27J mice was also evident. Moreover, analysis of the trigeminal nerve of the brainstem showed a 2.4 fold increase in number of degenerating neurons coupled with a decrease in motor neuron number relative to wild type. Aberrant phosphorylation of neurofilaments in the perikaryon region and axonal swellings within the pre-synaptic terminal region of motor neurons were observed. Furthermore, neuromuscular junction staining of dt(27J mouse extensor digitorum longus and tibialis anterior muscle fibers showed immature endplates and a significant decrease in axon branching compared to wild type littermates. Muscle atrophy was also observed in dt(27J muscle. Ultrastructure analysis revealed amyelinated motor axons in the ventral root of the spinal nerve, suggesting a possible defect in Schwann cells. Finally, behavioral analysis identified defective motor function in dt(27J mice. This study reveals neuromuscular defects that likely contribute to the dt(27J pathology and identifies a critical role for dystonin outside of sensory neurons.

  13. Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.

    LENUS (Irish Health Repository)

    Bradley, D

    2012-01-01

    Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed\\/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer\\'s cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician\\'s dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35\\/41 (85%), the tactile task in 35\\/41 (85%) and the mixed task in 26\\/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer\\'s cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.

  14. Treatment outcomes in cervical dystonia: a clinimetric study

    NARCIS (Netherlands)

    Lindeboom, R.; de Haan, R. J.; Aramideh, M.; Brans, J. W.; Speelman, J. D.

    1996-01-01

    We reviewed 21 studies (8 blinded and 13 open) on the treatment of botulinum toxin type A for cervical dystonia, directed to the health aspects used to evaluate the patients' response to treatment (Medline search 1985-1993, English language literature). The prerequisite for comparing the treatment

  15. Electromyography in cervical dystonia: changes after botulinum and trihexyphenidyl

    NARCIS (Netherlands)

    Brans, J. W.; Aramideh, M.; Koelman, J. H.; Lindeboom, R.; Speelman, J. D.; Ongerboer de Visser, B. W.

    1998-01-01

    BACKGROUND: The value of physical examination in detecting involved neck muscles in cervical dystonia (CD) is uncertain and little is known about changes in electromyographic (EMG) features after botulinum toxin type A (BTA) treatment. METHODS: In a double-blind, randomized study we recorded the EMG

  16. Diagnosis and treatment of pediatric onset isolated dystonia.

    Science.gov (United States)

    Zorzi, Giovanna; Carecchio, Miryam; Zibordi, Federica; Garavaglia, Barbara; Nardocci, Nardo

    2018-03-01

    Isolated dystonia refers to a genetic heterogeneous group of progressive conditions with onset of symptoms during childhood or adolescence, progressive course with frequent generalization and marked functional impairment. There are well-known monogenic forms of isolated dystonia with pediatric onset such as DYT1 and DYT6 transmitted with autosomal dominant inheritance and low penetrance. Genetic findings of the past years have widened the etiological spectrum and the phenotype. The recently discovered genes (GNAL, ANO-3, KTM2B) or variant of already known diseases, such as Ataxia-Teleangectasia, are emerging as another causes of pediatric onset dystonia, sometimes with a more complex phenotype, but their incidence is unknown and still a considerable number of cases remains genetically undetermined. Due to the severe disability of pediatric onset dystonia treatment remains unsatisfactory and still mainly based upon oral pharmacological agents. However, deep brain stimulation is now extensively applied with good to excellent results especially when patients are treated early during the course of the disease. Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  17. White matter abnormalities in gene-positive myoclonus-dystonia

    NARCIS (Netherlands)

    van der Meer, Johan N.; Beukers, Richard J.; van der Salm, S. M. A.; Caan, Matthan W. A.; Tijssen, Marina A. J.; Nederveen, Aart J.

    2012-01-01

    Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic movements of the upper body. Functional imaging and structural gray matter imaging studies in M-D suggest defective sensorimotor integration and an association between

  18. Dystonia not dystopia: effects of the legal high, 'Clockwork Orange'.

    Science.gov (United States)

    Mackey, Helen Elizabeth; Hawksley, Oliver

    2015-12-10

    A 27-year-old man presented to hospital after smoking a legal high named 'Clockwork Orange'. He suffered dystonia, acute kidney injury, rhabdomyolysis, lactic acidosis and a troponin rise. He was treated with procyclidine and intravenous fluids. 2015 BMJ Publishing Group Ltd.

  19. X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

    Directory of Open Access Journals (Sweden)

    Raymond L. Rosales

    2010-10-01

    Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

  20. Botulinum toxin in cervical dystonia: low dosage with electromyographic guidance

    NARCIS (Netherlands)

    Brans, J. W.; de Boer, I. P.; Aramideh, M.; Ongerboer de Visser, B. W.; Speelman, J. D.

    1995-01-01

    Sixty patients with idiopathic cervical dystonia were treated a total of 240 times with botulinum toxin type A (BTA). Selected muscles were injected with BTA under electromyographic (EMG) guidance. The clinical effect was measured on the Tsui scale and a 10-point anchored visual analogue scale. A

  1. Regaining motor control in musician's dystonia by restoring sensorimotor organisation

    Science.gov (United States)

    Rosenkranz, Karin; Butler, Katherine; Williamon, Aaron; Rothwell, John C.

    2010-01-01

    Professional musicians are an excellent human model of long term effects of skilled motor training on the structure and function of the motor system. However, such effects are accompanied by an increased risk of developing motor abnormalities, in particular musician's dystonia. Previously we found that there was an expanded spatial integration of proprioceptive input into the hand area of motor cortex (sensorimotor organisation, SMO) in healthy musicians as tested with a transcranial magnetic stimulation (TMS) paradigm. In musician's dystonia, this expansion was even larger, resulting in a complete lack of somatotopic organisation. We hypothesised that the disordered motor control in musician's dystonia is a consequence of the disordered SMO. In the present paper we test this idea by giving pianists with musician's dystonia 15 min experience of a modified proprioceptive training task. This restored SMO towards that seen in healthy pianists. Crucially, motor control of the affected task improved significantly and objectively as measured with a MIDI piano, and the amount of behavioural improvement was significantly correlated to the degree of sensorimotor re-organisation. In healthy pianists and non-musicians, the SMO and motor performance remained essentially unchanged. These findings suggest a link between the differentiation of SMO in the hand motor cortex and the degree of motor control of intensively practiced tasks in highly skilled individuals. PMID:19923295

  2. Dystonia: case series of twenty two patients | Jowi | East African ...

    African Journals Online (AJOL)

    Objective: Dystonia is a rare neurological disorder characterised by sustained muscle contraction with resultant bizarre muscle movements and hence bizarre posturing. The pathophysiology is not well understood but it is believed there is dysfunction of the cortico-striatal-thalamo-cortical circuitry and projections. There is ...

  3. Altered striatal and pallidal connectivity in cervical dystonia

    NARCIS (Netherlands)

    Delnooz, C.C.S.; Pasman, J.W; Beckmann, C.F.; Warrenburg, B.P.C. van de

    2015-01-01

    Cervical dystonia is a neurological movement disorder characterized by involuntary, abnormal movements of the head and neck. Injecting the overactive muscles with botulinum toxin is the gold standard treatment, supported by good evidence (Delnooz and van de Warrenburg in Ther Adv Neurol Disord

  4. Bladder function in patients with dystonia undergoing deep brain stimulation.

    Science.gov (United States)

    Mordasini, Livio; Kessler, Thomas M; Kiss, Bernhard; Schüpbach, Michael; Pollo, Claudio; Kaelin-Lang, Alain

    2014-09-01

    Neurogenic bladder dysfunction is well described in Parkinson's disease and has a major impact on quality of live. In contrast, little is known about the extent of urinary symptoms in other movement disorders such as dystonia and about the role of the basal ganglia in bladder control.. A consecutive series of 11 patients with severe dystonia undergoing deep brain stimulation (DBS) of the globus pallidus internus was prospectively enrolled. Bladder function was assessed by the International Prostate Symptom Score and urodynamic investigation (UDI) before DBS surgery and afterwards in the conditions with and without DBS. In UDI before DBS surgery, detrusor overactivity was found in 36% (4/11) of dystonia patients. With pallidal DBS ON, maximum flow rate significantly decreased, post-void residual significantly increased and detrusor overactivity disappeared.. Pathological urodynamic changes can be found in a relevant percentage of dystonia patients. Pallidal DBS has a relaxing effect on detrusor function indicating a role of the basal ganglia in lower urinary tract control. Thus, a better understanding on how subcortical networks influence lower urinary tract function might open new therapeutic perspectives.. Copyright © 2014 Elsevier Ltd. All rights reserved.

  5. Modulation of Muscle Tone and Sympathovagal Balance in Cervical Dystonia Using Percutaneous Stimulation of the Auricular Vagus Nerve.

    Science.gov (United States)

    Kampusch, Stefan; Kaniusas, Eugenijus; Széles, Jozsef C

    2015-10-01

    Primary cervical dystonia is characterized by abnormal, involuntary, and sustained contractions of cervical muscles. Current ways of treatment focus on alleviating symptomatic muscle activity. Besides pharmacological treatment, in severe cases patients may receive neuromodulative intervention such as deep brain stimulation. However, these (highly invasive) methods have some major drawbacks. For the first time, percutaneous auricular vagus nerve stimulation (pVNS) was applied in a single case of primary cervical dystonia. Auricular vagus nerve stimulation was already shown to modulate the (autonomous) sympathovagal balance of the body and proved to be an effective treatment in acute and chronic pain, epilepsy, as well as major depression. pVNS effects on cervical dystonia may be hypothesized to rely upon: (i) the alteration of sensory input to the brain, which affects structures involved in the genesis of motoric and nonmotoric dystonic symptoms; and (ii) the alteration of the sympathovagal balance with a sustained impact on involuntary movement control, pain, quality of sleep, and general well-being. The presented data provide experimental evidence that pVNS may be a new alternative and minimally invasive treatment in primary cervical dystonia. One female patient (age 50 years) suffering from therapy refractory cervical dystonia was treated with pVNS over 20 months. Significant improvement in muscle pain, dystonic symptoms, and autonomic regulation as well as a subjective improvement in motility, sleep, and mood were achieved. A subjective improvement in pain recorded by visual analog scale ratings (0-10) was observed from 5.42 to 3.92 (medians). Muscle tone of the mainly affected left and right trapezius muscle in supine position was favorably reduced by about 96%. Significant reduction of muscle tone was also achieved in sitting and standing positions of the patient. Habituation to stimulation leading to reduced stimulation efficiency was observed and

  6. Limb amputations in fixed dystonia: a form of body integrity identity disorder?

    Science.gov (United States)

    Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

    2011-07-01

    Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases, combined with recent data regarding disorders of mental rotation in patients with fixed dystonia, as well as previous data regarding body integrity identity disorder and amputations sought by patients with chronic regional pain syndrome, raise the possibility that patients with fixed dystonia might have a deficit in body schema that predisposes them to developing fixed dystonia and drives some to seek amputation. The outcome of amputation in fixed dystonia is invariably unfavorable. Copyright © 2011 Movement Disorder Society.

  7. Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.

    Science.gov (United States)

    Nunes, Marcelo B; Martinez, Alberto Rolim M; Rezende, Thiago Junqueira R; Friedman, Joseph H; Lopes-Cendes, Iscia; D'Abreu, Anelyssa; França, Marcondes C

    2015-12-01

    Dystonia is frequent in Machado-Joseph disease, but several important aspects are not yet defined, such as the detailed clinical profile, response to treatment and anatomical substrate. We screened 75 consecutive patients and identified those with dystonia. The Burke-Marsden-Fahn Dystonia Rating Scale was employed to quantify dystonia severity. Patients with dystonia received levodopa 600 mg/day for 2 months and were videotaped before and after treatment. A blinded evaluator rated dystonia in the videos. Patients with disabling dystonia who failed to respond to levodopa treatment received botulinum toxin. Finally, volumetric T1 and diffusion tensor imaging sequences were obtained in the dystonic group using a 3T-MRI scanner to identify areas of gray and white matter that were selectively damaged. There were 21 patients with dystonia (28%): 9 classified as generalized and 12 as focal/segmental. Patients with dystonia had earlier onset and larger (CAG) expansions (28.9 ± 11.7 vs 40.6 ± 11.4; p Machado-Joseph disease is frequent and often disabling, but may respond to levodopa. It is associated predominantly with structural abnormalities around the motor cortices and in the thalami. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. Risk Factors for Dystonia after Selective Dorsal Rhizotomy in Nonwalking Children and Adolescents with Bilateral Spasticity.

    Science.gov (United States)

    van de Pol, Laura A; Vermeulen, R Jeroen; van 't Westende, Charlotte; van Schie, Petra E M; Bolster, Eline A M; van Ouwerkerk, Pim W J R; Strijers, Rob L; Becher, Jules G; Stadhouder, Agnita; de Graaf, Pim; Buizer, Annemieke I

    2018-02-01

    We recently showed a beneficial effect of selective dorsal rhizotomy (SDR) on daily care and comfort in nonwalking children with severe bilateral spasticity. However, despite careful selection, some patients showed dystonia after the intervention, in which cases caregivers tended to be less satisfied with the result.The aim of this study is to identify risk factors for dystonia after SDR in children and adolescents with severe bilateral spasticity (GMFCS levels IV/V).Clinical and MRI risk factors for dystonia after SDR were studied in our cohort of 24 patients. Patients with clinical evidence of dystonia and brain MRI showing basal ganglia abnormalities were excluded for SDR.Nine of 24 patients (38%) showed some degree of dystonia after SDR. There was a significant association between the cause of spasticity and dystonia after SDR; in six (67%) patients with a congenital disorder, dystonia was present versus three (20%) with an acquired disorder (Chi-squared test: C(1) = 5.23, p  = 0.02).This study allows more optimal selection of patients that may benefit from SDR. Patients with an acquired cause of spasticity, when selected carefully on clinical examination and MRI, rarely show dystonia after SDR. However, patients with an underlying congenital disorder have a considerable risk of dystonia after SDR. Georg Thieme Verlag KG Stuttgart · New York.

  9. Sonographic alteration of lenticular nucleus in focal task-specific dystonia of musicians.

    Science.gov (United States)

    Walter, Uwe; Buttkus, Franziska; Benecke, Reiner; Grossmann, Annette; Dressler, Dirk; Altenmüller, Eckart

    2012-01-01

    In distinct movement disorders, transcranial sonography detects alterations of deep brain structures with higher sensitivity than other neuroimaging methods. Lenticular nucleus hyperechogenicity on transcranial sonography, thought to be caused by increased local copper content, has been reported as a characteristic finding in primary spontaneous dystonia. Here, we wanted to find out whether deep brain structures are altered in task-specific dystonia. The frequency of sonographic brainstem and basal ganglia changes was studied in an investigator-blinded setting in 15 musicians with focal task-specific hand dystonia, 15 musicians without dystonia, and 15 age- and sex-matched nonmusicians without dystonia. Lenticular nucleus hyperechogenicity was found in 12 musicians with task-specific dystonia, but only in 3 nondystonic musicians (Fisher's exact test, p = 0.001) and 2 nonmusicians (p musicians correlated with age, but not with duration of music practice or duration of dystonia. In 2 of 3 affected musicians with normal echogenic lenticular nucleus, substantia nigra hyperechogenicity was found. Our findings support the idea of a pathogenetic link between primary spontaneous and task-specific dystonia. Sonographic basal ganglia alteration might indicate a risk factor that in combination with extensive fine motor training promotes the manifestation of task-specific dystonia. Copyright © 2011 S. Karger AG, Basel.

  10. Atypical presentation of dopa-responsive dystonia in Taiwan.

    Science.gov (United States)

    Weng, Yi Ching; Wang, Chun Chieh; Wu, Yih Ru

    2018-02-01

    The typical clinical presentation of dopa-responsive dystonia, which is also called Segawa disease, is a young age of onset, with predominance in females, diurnal fluctuation of lower limb dystonia, and fair response to low-dose levodopa. This disease has both autosomal dominant and autosomal recessive inheritance. Autosomal dominant Segawa disease is caused by GCH1 mutation on chromosome 14q22.1-q22.2. Here, we report the case of a male patient with genetically confirmed Segawa disease and atypical presentations including no diurnal symptom fluctuation and insufficient response to levodopa. The patient's father who had the same mutation presented parkinsonism in old age. We also review the literature to address the broad clinical heterogeneity of Segawa disease and the influence of onset age on clinical presentation.

  11. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  12. Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.

    Science.gov (United States)

    Meek, D; Wolfe, L S; Andermann, E; Andermann, F

    1984-04-01

    A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-old level of mental development. The mean percentages of beta-hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9, 9.8, and 13.0%, respectively. These values are higher than in Tay-Sachs disease but are similar to levels seen in late-onset or adult cases of GM2 gangliosidosis. This patient appears to represent a new phenotype of juvenile GM2 gangliosidosis having dystonia as the dominant symptom.

  13. Primary Focal Dystonia: Evidence for Distinct Neuropsychiatric and Personality Profiles

    OpenAIRE

    2009-01-01

    Abstract Background: Primary focal dystonia (PFD) is characterized by motor symptoms. Frequent co-occurrence of abnormal mental conditions has been mentioned for decades but is less well defined. We evaluated prevalence rates of psychiatric disorders, personality disorders and traits in a large cohort of PFD patients. Methods: Prevalence rates of clinical psychiatric diagnoses in 86 PFD patients were compared to a population-based sample (N=3943) using a multiple regress...

  14. Modulation of the Muscle Activity During Sleep in Cervical Dystonia.

    Science.gov (United States)

    Antelmi, Elena; Ferri, Raffaele; Provini, Federica; Scaglione, Cesa M L; Mignani, Francesco; Rundo, Francesco; Vandi, Stefano; Fabbri, Margherita; Pizza, Fabio; Plazzi, Giuseppe; Martinelli, Paolo; Liguori, Rocco

    2017-07-01

    Impaired sleep has been reported as an important nonmotor feature in dystonia, but so far, self-reported complaints have never been compared with nocturnal video-polysomnographic (PSG) recording, which is the gold standard to assess sleep-related disorders. Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls (HC) underwent extensive clinical investigations, neurological examination, and questionnaire screening for excessive daytime sleepiness and sleep-related disorders. A full-night video PSG was performed in both patients and HC. An ad hoc montage, adding electromyographic leads over the muscle affected with dystonia, was used. When compared to controls, patients showed significantly increased pathological values on the scale assessing self-reported complaints of impaired nocturnal sleep. Higher scores of impaired nocturnal sleep did not correlate with any clinical descriptors but for a weak correlation with higher scores on the scale for depression. On video-PSG, patients had significantly affected sleep architecture (with decreased sleep efficiency and increased sleep latency). Activity over cervical muscles disappears during all the sleep stages, reaching significantly decreased values when compared to controls both in nonrapid eye movements and rapid eye movements sleep. Patients with cervical dystonia reported poor sleep quality and showed impaired sleep architecture. These features however cannot be related to the persistence of muscle activity over the cervical muscles, which disappears in all the sleep stages, reaching significantly decreased values when compared to HC. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  15. Developing Gene Silencing for the Study and Treatment of Dystonia

    Science.gov (United States)

    2017-12-01

    that this is possible but using cells growing in a dish in the laboratory, not in living animals. In this project, we aim to answer several specific... important therapeutic implication of these experiments is that either the striatum is not the primary site of dysfunction in DYT1, or that the molecular...1 AWARD NUMBER: W81XWH-14-1-0282 TITLE: Developing Gene Silencing for the Study and Treatment of Dystonia PRINCIPAL INVESTIGATOR: Pedro

  16. Neural correlates of abnormal sensory discrimination in laryngeal dystonia

    Directory of Open Access Journals (Sweden)

    Pichet Termsarasab

    2016-01-01

    Full Text Available Aberrant sensory processing plays a fundamental role in the pathophysiology of dystonia; however, its underpinning neural mechanisms in relation to dystonia phenotype and genotype remain unclear. We examined temporal and spatial discrimination thresholds in patients with isolated laryngeal form of dystonia (LD, who exhibited different clinical phenotypes (adductor vs. abductor forms and potentially different genotypes (sporadic vs. familial forms. We correlated our behavioral findings with the brain gray matter volume and functional activity during resting and symptomatic speech production. We found that temporal but not spatial discrimination was significantly altered across all forms of LD, with higher frequency of abnormalities seen in familial than sporadic patients. Common neural correlates of abnormal temporal discrimination across all forms were found with structural and functional changes in the middle frontal and primary somatosensory cortices. In addition, patients with familial LD had greater cerebellar involvement in processing of altered temporal discrimination, whereas sporadic LD patients had greater recruitment of the putamen and sensorimotor cortex. Based on the clinical phenotype, adductor form-specific correlations between abnormal discrimination and brain changes were found in the frontal cortex, whereas abductor form-specific correlations were observed in the cerebellum and putamen. Our behavioral and neuroimaging findings outline the relationship of abnormal sensory discrimination with the phenotype and genotype of isolated LD, suggesting the presence of potentially divergent pathophysiological pathways underlying different manifestations of this disorder.

  17. Periodontal treatment in a patient with generalized idiopathic dystonia.

    Science.gov (United States)

    Zuza, Elizangela Partata; Campos, Leonardo Carlos; Vanzelli, Marcio Luiz Vidotto; Martins, Alex Tadeu; Pontes, Ana Emília Farias; Ribeiro, Fernando Salimon; Toledo, Benedicto Egbert Côrrea; Pires, Juliana Rico

    2016-01-01

    Dystonia is a neurological disorder that can cause constant muscle contractions and motor limitations. This work reports a clinical case of periodontal treatment in a patient with generalized idiopathic dystonia. The intraoral clinical examination was focused on the presence of caries and periodontal diseases. The plaque index (PI), probing depth (PD), and bleeding on probing (BOP) were measured. Initially, oral hygiene instruction was provided using a soft conventional toothbrush and dental floss, but the clinical results achieved using these methods were inadequate. Alternative methods of plaque removal were offered, such as the use of a power toothbrush and a dental floss fork, which resulted in improvement in the PI, PD, and BOP and allowed the patient to undergo periodontal surgery for the restoration of subgingival caries. Our results suggested that generalized idiopathic dystonia leads to motor limitations that may cause difficulty with regard to plaque control, but adaptations of the methods used for oral hygiene may improve the oral health conditions in these patients. © 2015 Special Care Dentistry Association and Wiley Periodicals, Inc.

  18. Deep brain stimulation for intractable tardive dystonia: Literature overview.

    Science.gov (United States)

    Sobstyl, Michał; Ząbek, Mirosław

    2016-01-01

    Tardive dystonia (TD) represents a side effect of prolonged intake of dopamine receptor blocking compounds. TD can be a disabling movement disorder persisting despite available medical treatment. Deep brain stimulation (DBS) has been reported successful in this condition although the number of treated patients with TD is still limited to small clinical studies or case reports. The aim of this study was to present the systematical overview of the existing literature regarding DBS for intractable TD. A literature search was carried out in PudMed. Clinical case series or case reports describing the patients with TD after DBS treatment were included in the present overview. Literature search revealed 19 articles reporting 59 individuals operated for TD. GPi was the target in 55 patients, while subthalamic nucleus (STN) was the target in the remaining 4. In most studies the motor part of Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) was improved by more than 80% when compared to preoperative BFMDRS scores. The performed literature analysis indicates that bilateral GPi DBS is an effective treatment for disabling TD. The response of TD to bilateral GPi DBS may be very rapid and occurs within days/weeks after the procedure. The efficacy of bilateral GPi DBS in TD patients is comparable to results achieved in patients with primary generalized dystonia. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  19. Focal dystonia in musicians: Linking motor symptoms to somatosensory dysfunction

    Directory of Open Access Journals (Sweden)

    Juergen eKonczak

    2013-06-01

    Full Text Available Musician’s dystonia (MD is a neurological motor disorder characterized by involuntary contractions of those muscles involved in the play of a musical instrument. It is task-specific and initially only impairs the voluntary control of highly practiced musical motor skills. MD can lead to a severe decrement in a musician’s ability to perform. While the etiology and the neurological pathomechanism of the disease remain unknown, it is known that MD like others forms of focal dystonia is associated with somatosensory deficits, specifically a decreased precision of tactile and proprioceptive perception. The sensory component of the disease becomes also evident by the patients’ use sensory tricks such as touching dystonic muscles to alleviate motor symptoms. The central premise of this paper is that the motor symptoms of MD have a somatosensory origin and are not fully explained as a problem of motor execution. We outline how altered proprioceptive feedback ultimately leads to a loss of voluntary motor control and propose two scenarios that explain why sensory tricks are effective. Sensory tricks are effective, because the sensorimotor system either recruits neural resources normally involved in tactile-proprioceptive (sensory integration, or utilizes a fully functioning motor efference copy mechanism to align experienced with expected sensory feedback. We argue that an enhanced understanding of how a primary sensory deficit interacts with mechanisms of sensorimotor integration in musician’s dystonia provides helpful insights for the design of more effective behavioral therapies.

  20. Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

    Science.gov (United States)

    Koppel, Barbara S

    2015-10-01

    Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

  1. Robotic arm

    Science.gov (United States)

    Kwech, Horst

    1989-04-18

    A robotic arm positionable within a nuclear vessel by access through a small diameter opening and having a mounting tube supported within the vessel and mounting a plurality of arm sections for movement lengthwise of the mounting tube as well as for movement out of a window provided in the wall of the mounting tube. An end effector, such as a grinding head or welding element, at an operating end of the robotic arm, can be located and operated within the nuclear vessel through movement derived from six different axes of motion provided by mounting and drive connections between arm sections of the robotic arm. The movements are achieved by operation of remotely-controllable servo motors, all of which are mounted at a control end of the robotic arm to be outside the nuclear vessel.

  2. Robotic arm

    International Nuclear Information System (INIS)

    Kwech, H.

    1989-01-01

    A robotic arm positionable within a nuclear vessel by access through a small diameter opening and having a mounting tube supported within the vessel and mounting a plurality of arm sections for movement lengthwise of the mounting tube as well as for movement out of a window provided in the wall of the mounting tube is disclosed. An end effector, such as a grinding head or welding element, at an operating end of the robotic arm, can be located and operated within the nuclear vessel through movement derived from six different axes of motion provided by mounting and drive connections between arm sections of the robotic arm. The movements are achieved by operation of remotely-controllable servo motors, all of which are mounted at a control end of the robotic arm to be outside the nuclear vessel. 23 figs

  3. Central Motor Conduction Studies and Diagnostic Magnetic Resonance Imaging in Children with Severe Primary and Secondary Dystonia

    Science.gov (United States)

    McClelland, Verity; Mills, Kerry; Siddiqui, Ata; Selway, Richard; Lin, Jean-Pierre

    2011-01-01

    Aim: Dystonia in childhood has many causes. Imaging may suggest corticospinal tract dysfunction with or without coexistent basal ganglia damage. There are very few published neurophysiological studies on children with dystonia; one previous study has focused on primary dystonia. We investigated central motor conduction in 62 children (34 males, 28…

  4. Dystonia-Deafness Syndrome Caused by a beta-Actin Gene Mutation and Response to Deep Brain Stimulation

    NARCIS (Netherlands)

    Eggink, Hendriekje; van Egmond, Martje E.; Verschuuren - Bemelmans, Corien C.; Schonherr, Marleen C.; de Koning, Tom J.; Oterdoom, D. L. Marinus; van Dijk, J. Marc C.; Tijssen, Marina A. J.

    Introduction: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. Objectives: To describe two patients with dystonia-deafness syndrome due

  5. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

    DEFF Research Database (Denmark)

    Djarmati, Ana; Schneider, Susanne A; Lohmann, Katja

    2009-01-01

    -onset generalised dystonia with spasmodic dysphonia. This combination of symptoms might be a characteristic feature of DYT6 dystonia and could be useful in the differential diagnosis of DYT1, DYT4, DYT12, and DYT17 dystonia. In addition to the identified mutations, a rare non-coding substitution in THAP1 might...

  6. Hemichorea and dystonia due to frontal lobe meningioma

    Directory of Open Access Journals (Sweden)

    Abdul Qayyum Rana

    2014-01-01

    Full Text Available Tumors originating from the meninges, also known as meningiomas, have rarely been known to cause parkinsonian symptoms and other movement disorders. Although some cases of AV malformations causing movement disorders have been described in the literature, not much has been reported about meningiomas in this regard. The aim of this case report is to further highlight the importance of brain imaging in patients with movement disorders for even a benign tumor; and also emphasize the need for a careful movement disorder examination because more than one phenomenology of movement disorders may result from the mechanical pressure caused by a tumor. We present a case report of a patient with a heavily calcified right frontal lobe meningioma. Our patient had irregular, involuntary, brief, fleeting and unpredictable movements of her left upper and lower extremities, consistent with chorea. The patient also had abnormal dystonic posturing of her left arm while walking. This case report highlights the importance of brain imaging as well as careful neurological examinations of patients with benign meningiomas. Moreover, it illustrates the remarkable specificity yet clinical diversity of meningiomas in presentation through movement disorders.

  7. Robotic Arm Unwrapped

    Science.gov (United States)

    2008-01-01

    This image, taken shortly after NASA's Phoenix Mars Lander touched down on the surface of Mars, shows the spacecraft's robotic arm in its stowed configuration, with its biobarrier successfully unpeeled. The 'elbow' of the arm can be seen at the top center of the picture, and the biobarrier is the shiny film seen to the left of the arm. The biobarrier is an extra precautionary measure for protecting Mars from contamination with any bacteria from Earth. While the whole spacecraft was decontaminated through cleaning, filters and heat, the robotic arm was given additional protection because it is the only spacecraft part that will directly touch the ice below the surface of Mars. Before the arm was heated, it was sealed in the biobarrier, which is made of a trademarked film called Tedlar that holds up to baking like a turkey-basting bag. This ensures that any new bacterial spores that might have appeared during the final steps before launch and during the journey to Mars will not contact the robotic arm. After Phoenix landed, springs were used to pop back the barrier, giving it room to deploy. The base of the lander's Meteorological Station can be seen in this picture on the upper left. Because only the base of the station is showing, this image tells engineers that the instrument deployed successfully. The image was taken on landing day, May 25, 2008, by the spacecraft's Surface Stereo Imager. The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

  8. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    DEFF Research Database (Denmark)

    Engl, Gertraud; Florian, Stefan; Tranebjærg, Lisbeth

    2012-01-01

    Deafness-Dystonia-Optic Neuropathy (DDON) Syndrome is a rare X-linked progressive neurodegenerative disorder resulting from mutations in the TIMM8A gene encoding for the deafness dystonia protein 1 (DDP1). Despite important progress in identifying and characterizing novel mutations in this gene...

  9. Limb amputations in fixed dystonia: A form of body integrity identity disorder?

    NARCIS (Netherlands)

    Edwards, M.J.; Alonso-Canovas, A.; Schrag, A.; Bloem, B.R.; Thompson, P.D.; Bhatia, K.

    2011-01-01

    Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought

  10. The effectiveness of physiotherapy for cervical dystonia: a systematic literature review

    NARCIS (Netherlands)

    Pauw, J. De; Velden, K. van der; Meirte, J.; Daele, U. Van; Truijen, S.; Cras, P.; Mercelis, R.; Hertogh, W. de

    2014-01-01

    Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended

  11. Integration of sensory force feedback is disturbed in CRPS-related dystonia.

    Science.gov (United States)

    Mugge, Winfred; van der Helm, Frans C T; Schouten, Alfred C

    2013-01-01

    Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiology of fixed dystonia. Sensory weighting is the process of integrating and weighting sensory feedback channels in the central nervous system to improve the state estimate. It was hypothesized that patients with CRPS-related dystonia bias sensory weighting of force and position toward position due to the unreliability of force feedback. The current study provides experimental evidence for dysfunctional sensory integration in fixed dystonia, showing that CRPS-patients with fixed dystonia weight force and position feedback differently than controls do. The study shows reduced force feedback weights in CRPS-patients with fixed dystonia, making it the first to demonstrate disturbed integration of force feedback in fixed dystonia, an important step towards understanding the pathophysiology of fixed dystonia.

  12. Etiology, Diagnosis and Management of Oromandibular Dystonia: an Update for Stomatologists.

    Science.gov (United States)

    Raoofi, Saeed; Khorshidi, Hooman; Najafi, Maryam

    2017-06-01

    Oromandibular dystonia (OMD) is a rare focal neurological disorder that affects mouth, face, and jaws. This comprehensive literature review aimed to summarize the current evidence for etiology, diagnosis, and management of OMD and assess the possibility of dental origin of the disease and dental treatment plans for these patients. Different online databases namely PubMed, Google scholar, and Scopus were searched. The keywords "oromandibular dystonia", "orofaciomandibular dystonia", "orofacial-buccal dystonia", "lingual dystonia", "jaw dystonia", "cranial dystonia", and "adult-onset facial dystonia" were searched in the title and abstract of publications from 1970 to 2016. The inclusion criterion was the dental etiology and/or dental treatment. Out of 1260 articles, only 37 articles met the inclusion criteria. OMD can be caused or exacerbated through different dental treatments within which anyone is likely to be involved due to various reasons. Some novel methods employed to relieve this syndrome have led to certain cure or improvement of symptoms in several cases. OMD patients may refer to dentists with involuntary jaw movements and intraoral presentations. Thus, the dentists should be aware of the symptoms and signs and refer the suspicious cases. Dentists should also be familiar with special considerations when managing OMD patients.

  13. Characteristics of dystonia in the 18p deletion syndrome, including a new case

    NARCIS (Netherlands)

    Postma, Anna G.; Verschuuren - Bemelmans, Corien C.; Kok, Klaas; van Laar, Teus

    2009-01-01

    Objective of the present study was to evaluate the possible pathophysiology and clinical characteristics of dystonia in patients with the 18p deletion syndrome by describing a new case and reviewing the literature. Dystonia in patients with the 18p deletion syndrome seems to present heterogeneously

  14. Treatment of cervical dystonia: a comparison of measures for outcome assessment

    NARCIS (Netherlands)

    Lindeboom, R.; Brans, J. W.; Aramideh, M.; Speelman, H. D.; de Haan, R. J.

    1998-01-01

    There is little agreement on which outcome measures to use to express the efficacy of treatments for cervical dystonia. We analyzed change scores on various scales of 64 new patients with cervical dystonia before and after repeated injections with botulinum toxin. METHOD: The association between

  15. Temporal profile of improvement of tardive dystonia after globus pallidus deep brain stimulation.

    Science.gov (United States)

    Shaikh, Aasef G; Mewes, Klaus; DeLong, Mahlon R; Gross, Robert E; Triche, Shirley D; Jinnah, H A; Boulis, Nicholas; Willie, Jon T; Freeman, Alan; Alexander, Garrett E; Aia, Pratibha; Butefisch, Cathrine M; Esper, Christine D; Factor, Stewart A

    2015-02-01

    Several case reports and small series have indicated that tardive dystonia is responsive to globus pallidus deep brain stimulation. Whether different subtypes or distributions of tardive dystonia are associated with different outcomes remains unknown. We assessed the outcomes and temporal profile of improvement of eight tardive dystonia patients who underwent globus pallidus deep brain stimulation over the past six years through record review. Due to the retrospective nature of this study, it was not blinded or placebo controlled. Consistent with previous studies, deep brain stimulation improved the overall the Burke-Fahn-Marsden motor scores by 85.1 ± 13.5%. The distributions with best responses in descending order were upper face, lower face, larynx/pharynx, limbs, trunk, and neck. Patients with prominent cervical dystonia demonstrated improvement in the Toronto Western Spasmodic Torticollis Rating Scale but improvements took several months. In four patients the effects of deep brain stimulation on improvement in Burke Fahn Marsden score was rapid, while in four cases there was partial rapid response of neck and trunk dystonia followed by was gradual resolution of residual symptoms over 48 months. Our retrospective analysis shows excellent resolution of tardive dystonia after globus pallidus deep brain stimulation. We found instantaneous response, except with neck and trunk dystonia where partial recovery was followed by further resolution at slower rate. Such outcome is encouraging for using deep brain stimulation in treatment of tardive dystonia. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Improvement in upper limb function in children with dystonia following deep brain stimulation.

    Science.gov (United States)

    Gimeno, Hortensia; Lumsden, Daniel; Gordon, Anne; Tustin, Kylee; Ashkan, Keyoumars; Selway, Richard; Lin, Jean-Pierre

    2013-07-01

    Childhood dystonia can severely impact upper limb function. Deep brain stimulation (DBS) has been shown to be effective in reducing dystonic symptoms in childhood. Functional recovery following DBS is however not well understood. To explore changes in upper limb function following DBS in paediatric dystonia. Upper limb outcomes, using the Melbourne Assessment of Unilateral Upper Limb Function, are reported in 20 cases of childhood dystonia (unilateral n = 1, four limb n = 19) at 6 and 12 months following DBS. Improvement in at least in one upper limb was seen in the majority of cases (n = 17, 85%) at 12 months following DBS. Deterioration of scores in both upper limbs was seen in 3 children with progressive disorders. Grouping the children aetiologically, a significant improvement in the dominant hand was obtained for the primary dystonia/dystonia-plus group at both six (p = 0.018) and twelve months (p = 0.012). In secondary dystonia due to a static disorder, improvement was also seen at 6 (p = 0.043) and 12 months (p = 0.046) in the non-dominant hand. No significant change was found in the group of children with progressive disorders. DBS has the potential to alter upper limb function in children with primary and secondary dystonia. The dominant hand improved most in children with primary dystonias, with greater improvement in the non-dominant hand in secondary-static cases. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  17. EEG–EMG polygraphic study of dystonia and myoclonus in a case of Creutzfeldt–Jakob disease

    Directory of Open Access Journals (Sweden)

    Takao Hashimoto

    2015-01-01

    Full Text Available We report on a patient with sporadic Creutzfeldt–Jakob disease (CJD who showed dystonia, periodic myoclonus, and periodic sharp wave complexes (PSWCs on EEG. The EEG–EMG polygraphic study revealed that dystonia appeared without relation to periodic myoclonus and PSWCs and that dystonia EMGs were strongly suppressed after periodic myoclonus EMGs. These findings suggest that dystonia has a pathogenesis different from that of periodic myoclonus and PSWCs, but dystonia and periodic myoclonus may be generated through the sensorimotor cortex in CJD.

  18. Clozapine withdrawal-emergent dystonias and dyskinesias: a case series.

    Science.gov (United States)

    Ahmed, S; Chengappa, K N; Naidu, V R; Baker, R W; Parepally, H; Schooler, N R

    1998-09-01

    Severe psychotic decompensation during clozapine withdrawal has been reported previously. Less attention has been paid to movement disorders following abrupt clozapine withdrawal. This report describes 4 subjects who experienced severe dystonias and dyskinesias upon abrupt clozapine withdrawal. Current and past medical records of 4 subjects with DSM-IV schizophrenia or schizo-affective disorder were reviewed. All subjects had a history of neuroleptic-induced extrapyramidal symptoms, 1 had a history of severe dystonias, and 1 had neuroleptic malignant syndrome. All had mild orolingual tardive dyskinesia prior to clozapine treatment. All subjects had received clozapine for several months, and 3 of the 4 subjects stopped clozapine abruptly. Two subjects experienced cholinergic rebound symptoms within hours, which resolved quickly. These subjects had severe limb-axial and neck dystonias and dyskinesias 5 to 14 days after clozapine withdrawal. Two subjects were unable to ambulate, and 1 had a lurching gait. Two gagged while eating or drinking. Two subjects were returned to clozapine, 1 was started on low-dose risperidone treatment, and 1 was started on olanzapine treatment. All experienced significant improvements in their mental state and movement disorders. Severe movement disorders, which may be worse than the movements prior to clozapine treatment, and cholinergic rebound symptoms may occur upon abrupt clozapine withdrawal and must be recognized in addition to the severe psychotic decompensation noted in some patients. Patients, families, and caregivers must be alerted to this possibility. Where possible, a slow clozapine taper, the use of anticholinergic agents, and symptomatic treatment may help minimize these withdrawal symptoms, and reintroduction of clozapine or treatment with the newer atypical agents can help in the clinical management of these symptoms.

  19. Altered sensorimotor activation patterns in idiopathic dystonia-an activation likelihood estimation meta-analysis of functional brain imaging studies

    DEFF Research Database (Denmark)

    Løkkegaard, Annemette; Herz, Damian M; Haagensen, Brian Numelin

    2016-01-01

    Dystonia is characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements or postures. Functional neuroimaging studies have yielded abnormal task-related sensorimotor activation in dystonia, but the results appear to be rather variable across studies....... Further, study size was usually small including different types of dystonia. Here we performed an activation likelihood estimation (ALE) meta-analysis of functional neuroimaging studies in patients with primary dystonia to test for convergence of dystonia-related alterations in task-related activity...... postcentral gyrus, right superior temporal gyrus and dorsal midbrain. Apart from the midbrain cluster, all between-group differences in task-related activity were retrieved in a sub-analysis including only the 14 studies on patients with focal dystonia. For focal dystonia, an additional cluster of increased...

  20. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

    Directory of Open Access Journals (Sweden)

    Mohammad Javad Saeedi Borujeni

    2017-01-01

    Full Text Available Introduction:Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Case Report:In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy.  Conclusion:In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child.

  1. Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies.

    Directory of Open Access Journals (Sweden)

    Laura eAvanzino

    2014-12-01

    Full Text Available Dystonia has historically been considered a disorder of the basal ganglia, mainly affecting planning and execution of voluntary movements. This notion comes from the observation that most lesions responsible for secondary dystonia involve the basal ganglia. However, what emerges from recent research is that dystonia is linked to the dysfunction of a complex neural network that comprises basal ganglia-thalamic-frontal cortex, but also the inferior parietal cortex and the cerebellum. While dystonia is clearly a motor problem, it turned out that sensory aspects are also fundamental, especially those related to proprioception.We outline experimental evidence for proprioceptive dysfunction in focal dystonia from intrinsic sensory abnormalities to impaired sensorimotor integration, that is the process by which sensory information is used to plan and execute volitional movements. Particularly, we will focus on proprioceptive aspects of dystonia, including: i processing of vibratory input, ii temporal discrimination of two passive movements, iii multimodal integration of visual-tactile and proprioceptive inputs and, iv motor control in the absence of visual feedback. We suggest that these investigations contribute not only to a better understanding of dystonia pathophysiology, but also to develop rehabilitation strategies aimed at facilitating the processing of proprioceptive input.

  2. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  3. A gait paradigm reveals different patterns of abnormal cerebellar motor learning in primary focal dystonias.

    Science.gov (United States)

    Hoffland, B S; Veugen, L C; Janssen, M M H P; Pasman, J W; Weerdesteyn, V; van de Warrenburg, B P

    2014-12-01

    Accumulating evidence points to a role of the cerebellum in the pathophysiology of primary dystonia. The aim of this study was to investigate whether the abnormalities of cerebellar motor learning in primary dystonia are solely detectable in more pure forms of cerebellum-dependent associative motor learning paradigms, or whether these are also present in other motor learning paradigms that rely heavily on the cerebellum but in addition require a more widespread sensorimotor network. Twenty-six patients with various forms of focal dystonia and 10 age-matched healthy controls participated in a motor learning paradigm on a split-belt treadmill. By using reflective markers, three-dimensional kinematics were recorded using a 6-camera motion analysis system. Adaptation walking parameters were analyzed offline, comparing the different dystonia groups and healthy controls. Patients with blepharospasm and writer's cramp were significantly impaired on various adaptation walking parameters. Whereas results of cervical dystonia patients did not differ from healthy controls in terms of adaptation walking parameters, differences in parameters of normal gait were found. We have here demonstrated abnormal sensorimotor adaptation with the split-belt paradigm in patients with blepharospasm and writer's cramp. This reinforces the current concept of cerebellar dysfunction in primary dystonia, and that this extends beyond more pure forms of cerebellum-dependent associative motor learning paradigms. However, the finding of normal adaptation in cervical dystonia patients indicates that the pattern of cerebellar dysfunction may be slightly different for the various forms of primary focal dystonia, suggesting that actual cerebellar pathology may not be a primary driving force in dystonia.

  4. ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

    Science.gov (United States)

    Douglas, Andrew G L; Andreoletti, Gaia; Talbot, Kevin; Hammans, Simon R; Singh, Jaspal; Whitney, Andrea; Ennis, Sarah; Foulds, Nicola C

    2017-04-01

    We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-granddaughter pair. Whole-exome sequencing identified 18,000 shared variants, of which 46 were non-synonymous changes not present in a local cohort of control exomes (n = 422). Further filtering based on predicted splicing effect, minor allele frequency in the 1000 Genomes Project and on phylogenetic conservation yielded 13 candidate variants, of which the heterozygous missense mutation c.3086T>G, p. M1029R in ADCY5 most closely matched the observed phenotype. This report illustrates the utility of whole-exome sequencing in cases of undiagnosed movement disorders with clear autosomal dominant inheritance. Moreover, ADCY5 mutations should be considered in cases with apparent myoclonus-dystonia, particularly where SCGE mutations have been excluded. ADCY5-related dyskinesia may manifest variable expressivity within a single family, and affected individuals may be initially diagnosed with differing neurological phenotypes.

  5. Refractory Dysphonia Due to Isolated Cricothyroid Muscle Dystonia.

    Science.gov (United States)

    Kraft, Shannon; Childes, Jana; Hillel, Allen; Schindler, Joshua

    2016-07-01

    To demonstrate the utility of electromyography (EMG) in the evaluation and management of treatment-resistant dysphonia. We report a case of refractory dysphonia in which EMG was used to identify and treat isolated cricothyroid (CT) dystonia. The patient, a healthy 43-year-old woman, presented with 9 months of progressive hoarseness. Her symptoms were present across vocal tasks but were particularly bothersome while dictating. On presentation, her voice was rated grade 3, roughness 3, breathiness 1, asthenia 0, and strain 3 (G3R3B1A0S3). Videostroboscopy was remarkable for hyperfunction. Voice therapy was not beneficial despite appropriate effort. Microdirect laryngoscopy revealed no evidence of structural pathology. The patient was referred for EMG because of her normal examination and failure to improve with therapy. The CT muscle demonstrated an increased latency of 750 ms in all vocal tasks. One month after CT injection with 3 units of botulinum toxin (BTX), her voice was improved. Perceptual voice evaluation was rated G1R1B0A0S1. Voice Handicap Index improved from 87 to 35. In the absence of structural pathology, EMG can be a useful adjunct in the diagnosis of dysphonia that persists despite adequate trials of voice therapy. To our knowledge, this is the only report of laryngeal dystonia due to isolated CT dysfunction successfully treated with BTX. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  6. TREATMENT OF LARYNGEAL DYSTONIA WITH BOTULINUM TOXIN: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Irena Hočevar-Boltežar

    2002-07-01

    Full Text Available Background. Laryngeal dystonia (LD is a form of focal dystonia, involving laryngeal muscles and causing disturbed phonation. Adductor, abductor and mixed forms of LD are described.Methods. Largely unsuccessful treatments include voice therapy, psychotherapy, biofeedback, section of the laryngeal recurrent nerve, laryngeal framework surgery and the use of centrally acting drugs. Botulinum toxin proved to be the most efficient treatment of LD; it acts by chemically denervating hyperactive laryngeal muscles.Case report. Authors report on the first use of botulinum toxin in a patient with LD in Slovenia. A female patient with a degenerative disease of extrapyramidal, cerebellar and autonomous system (probable multiple system atrophy and severe adductor form of LD is presented. By gradually increasing dose, the optimal dosage of botulinum has been established that greatly improves the patient’s speech for four months and causes transient mild adverse effects (dysphagia. Botulinum is injected percutaneously under endoscopic control, using the method, which has been described in literature for the first time.Conclusions. Treatment of LD with botulinum toxin demonstrated good results. It improves patient’s communication with others and the quality of his/her life.

  7. Tolerance of early pallidal stimulation in pediatric generalized dystonia.

    Science.gov (United States)

    Miyagi, Yasushi; Koike, Yu

    2013-11-01

    The authors report on 2 cases of pediatric generalized dystonia with a DYT1 mutation; the patients, an 11-year-old girl and a 9-year-old boy, underwent chronic, pallidal deep brain stimulation (DBS) of the globus pallidus internus (GPi). The dystonic postures in both cases showed dramatic improvements with pallidal DBS, but each patient's symptoms gradually recurred within a year, irrespective of exhaustive readjustments of the stimulation settings. After the recurrence of the dystonic symptoms, the DBS leads were replaced within the GPi in one patient (Case 1) and additional DBS leads were implanted into the bilateral subthalamic nuclei in the other patient (Case 2). Neither measure produced any further clinical benefit, and the patient in Case 2 died of status dystonicus 2 days after reoperation. These findings suggest that early pallidal DBS for pediatric dystonia is indeed effective, although there are some cases in which its therapeutic effect is lost. One possible reason may be the ability of the preadolescent brain to tolerate chronic electrical stimuli during the active maturation process.

  8. A De Novo Mutation in Causes Generalized Dystonia in 2 Unrelated Children

    Directory of Open Access Journals (Sweden)

    Yasemin Gulcan Kurt MD

    2016-03-01

    Full Text Available Dystonia is often associated with the symmetrical basal ganglia lesions of Leigh syndrome. However, it has also been associated with mitochondrial ND mutations, with or without Leber hereditary optic neuropathy. The m.14459G>A mutation in ND6 causes dystonia with or without familial Leber hereditary optic neuropathy. We report heteroplasmic 14459G>A mutations in 2 unrelated children with nonmaternally inherited generalized dystonia and showing bilateral magnetic resonance imaging lesions in nucleus pallidus and putamen. Both children have reached their teenage years, and they are intellectually active, despite their motor problems.

  9. Feed-induced Dystonias in Children With Severe Central Nervous System Disorders.

    Science.gov (United States)

    Mordekar, Santosh R; Velayudhan, Manjula; Campbell, David I

    2017-09-01

    Dystonias can arise from any painful stimuli in neurologically disabled children. Classically, feed-induced dystonias from mediastinal pain due to severe gastroesophageal reflux disease are described as Sandifer spasm. We report a case series of 12 severely neurologically impaired children with enteral feed-induced dystonias. Intestinal dysmotility was demonstrated in several. Improvements are seen with jejunal feeds or gut rest with total parenteral nutrition. Use of parenteral nutrition in children with severe neurodisability requires thorough discussion with patient groups and commissioners to give clinicians guidelines to standardize care.

  10. Focal hand dystonia cured by removal of clinoid meningioma-case report-.

    Science.gov (United States)

    Takahashi, Satoshi; Ohira, Takayuki; Shido, Satoka; Kawase, Takeshi

    2009-12-01

    A 40-year-old Asian female presented with an unusual case of focal hand dystonia caused by contralateral clinoid meningioma. Magnetic resonance imaging showed that the tumor compressed the caudate nucleus, lentiform nucleus, cerebral peduncle, internal capsule, and a large portion of the white matter surrounding the basal ganglia. The tumor was gross totally removed via a frontotemporal approach with zygomatic osteotomy, resulting in cure of the focal hand dystonia. Magnetic resonance imaging after surgery showed that the compression of the surrounding brain was released. This case shows that secondary focal hand dystonia caused by extra-axial brain tumor can be cured by surgical removal.

  11. Arm Pain

    Science.gov (United States)

    ... ed. New York, N.Y.: The McGraw-Hill Companies; 2013. http://accessmedicine. com. Accessed Jan. 16, 2016. Jan. 11, 2018 Original article: http://www.mayoclinic.org/symptoms/arm-pain/basics/definition/SYM-20050870 . Mayo Clinic Footer Legal Conditions and ...

  12. Broken Arm

    Science.gov (United States)

    ... the most common cause of a broken arm. Sports injuries. Direct blows and injuries on the field or court ... during a car accident, bike accident or other direct trauma. Child abuse. In children, a ... sports Any sport that involves physical contact or increases ...

  13. Normalization of sensorimotor integration by repetitive transcranial magnetic stimulation in cervical dystonia

    NARCIS (Netherlands)

    Zittel, S.; Helmich, R.C.G.; Demiralay, C.; Munchau, A.; Baumer, T.

    2015-01-01

    Previous studies indicated that sensorimotor integration and plasticity of the sensorimotor system are impaired in dystonia patients. We investigated motor evoked potential amplitudes and short latency afferent inhibition to examine corticospinal excitability and cortical sensorimotor integration,

  14. Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia.

    Science.gov (United States)

    Beck, Rebecca B; McGovern, Eavan M; Butler, John S; Birsanu, Dorina; Quinlivan, Brendan; Beiser, Ines; Narasimham, Shruti; O'Riordan, Sean; Hutchinson, Michael; Reilly, Richard B

    2018-01-27

    The temporal discrimination threshold (TDT) is the shortest time interval at which an observer can discriminate two sequential stimuli as being asynchronous (typically 30-50 ms). It has been shown to be abnormal (prolonged) in neurological disorders, including cervical dystonia, a phenotype of adult onset idiopathic isolated focal dystonia. The TDT is a quantitative measure of the ability to perceive rapid changes in the environment and is considered indicative of the behavior of the visual neurons in the superior colliculus, a key node in covert attentional orienting. This article sets out methods for measuring the TDT (including two hardware options and two modes of stimuli presentation). We also explore two approaches of data analysis and TDT calculation. The application of the assessment of temporal discrimination to the understanding of the pathogenesis of cervical dystonia and adult onset idiopathic isolated focal dystonia is also discussed.

  15. Does dystonic muscle activity affect sense of effort in cervical dystonia?

    OpenAIRE

    Carment, Lo?c; Maier, Marc A.; Sangla, Sophie; Guiraud, Vincent; Mesure, Serge; Vidailhet, Marie; Lindberg, P?vel G; Bleton, Jean-Pierre

    2017-01-01

    International audience; BackgroundFocal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD). We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues.MethodsNeck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis) and in 19 control subjects. Subjects performed force-match...

  16. Limb Amputations in Fixed Dystonia: A Form of Body Integrity Identity Disorder?

    OpenAIRE

    Edwards, Mark J; Alonso-Canovas, Araceli; Schrag, Arnette; Bloem, Bastiaan R; Thompson, Philip D; Bhatia, Kailash

    2011-01-01

    Fixed dystonia is a disabling disorder mainly affecting young women who develop fixed abnormal limb postures and pain after apparently minor peripheral injury. There is continued debate regarding its pathophysiology and management. We report 5 cases of fixed dystonia in patients who sought amputation of the affected limb. We place these cases in the context of previous reports of patients with healthy limbs and patients with chronic regional pain syndrome who have sought amputation. Our cases...

  17. Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia.

    Directory of Open Access Journals (Sweden)

    Hye Ran Park

    Full Text Available GPi (Internal globus pallidus DBS (deep brain stimulation is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia.This report describes the long-term clinical outcome of 36 patients implanted with GPi DBS at the Neurosurgery Department of Seoul National University Hospital.Nine patients with a known genetic cause, 12 patients with acquired dystonia, and 15 patients with isolated dystonia without a known genetic cause were included. When categorized by phenomenology, 29 patients had generalized, 5 patients had segmental, and 2 patients had multifocal dystonia. Patients were assessed preoperatively and at defined follow-up examinations postoperatively, using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS for movement and functional disability assessment. The mean follow-up duration was 47 months (range, 12-84.The mean movement scores significantly decreased from 44.88 points preoperatively to 26.45 points at 60-month follow up (N = 19, P = 0.006. The mean disability score was also decreased over time, from 11.54 points preoperatively to 8.26 points at 60-month follow up, despite no statistical significance (N = 19, P = 0.073. When analyzed the movement and disability improvement rates at 12-month follow up point, no significant difference was noted according to etiology, disease duration, age at surgery, age of onset, and phenomenology. However, the patients with DYT-1 dystonia and isolated dystonia without a known genetic cause showed marked improvement.GPi DBS is a safe and efficient therapeutic method for treatment of dystonia patients to improve both movement and disability. However, this study has some limitations caused by the retrospective design with small sample size in a single-center.

  18. Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia.

    Science.gov (United States)

    Bradnam, Lynley V; McDonnell, Michelle N; Ridding, Michael C

    2016-11-23

    There is emerging evidence that cervical dystonia is a neural network disorder with the cerebellum as a key node. The cerebellum may provide a target for neuromodulation as a therapeutic intervention in cervical dystonia. This study aimed to assess effects of intermittent theta-burst stimulation of the cerebellum on dystonia symptoms, quality of life, hand motor dexterity and cortical neurophysiology using transcranial magnetic stimulation. Sixteen participants with cervical dystonia were randomised into real or sham stimulation groups. Cerebellar neuromodulation was combined with motor training for the neck and an implicit learning task. The intervention was delivered over 10 working days. Outcome measures included dystonia severity and pain, quality of life, hand dexterity, and motor-evoked potentials and cortical silent periods recorded from upper trapezius muscles. Assessments were taken at baseline and after 5 and 10 days, with quality of life also measured 4 and 12 weeks later. Intermittent theta-burst stimulation improved dystonia severity (Day 5, -5.44 points; p = 0.012; Day 10, -4.6 points; p = 0.025), however, effect sizes were small. Quality of life also improved (Day 5, -10.6 points, p = 0.012; Day 10, -8.6 points, p = 0.036; Week 4, -12.5 points, p = 0.036; Week 12, -12.4 points, p = 0.025), with medium or large effect sizes. There was a reduction in time to complete the pegboard task pre to post intervention (both p < 0.008). Cortical neurophysiology was unchanged by cerebellar neuromodulation. Intermittent theta-burst stimulation of the cerebellum may improve cervical dystonia symptoms, upper limb motor control and quality of life. The mechanism likely involves promoting neuroplasticity in the cerebellum although the neurophysiology remains to be elucidated. Cerebellar neuromodulation may have potential as a novel treatment intervention for cervical dystonia, although larger confirmatory studies are required.

  19. Scopolamine alleviates involuntary lingual movements: tardive dyskinesia or dystonia?

    Directory of Open Access Journals (Sweden)

    Hu JB

    2017-08-01

    Full Text Available Jianbo Hu,1,2,* Jianbo Lai,1,2,* Shaohua Hu,1,2 Yi Xu1,2 1Department of Psychiatry, First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China; 2The Key Laboratory of Mental Disorder’s Management in Zhejiang Province, Hangzhou, China *These authors contributed equally to this work Abstract: Cholinergic hypofunction was believed to be associated with the pathogenesis of tardive dyskinesia, and therefore, anticholinergic treatment might exacerbate the condition. We describe herein a middle-aged male with feeble chewing movements, involuntary rolling motions of the tongue, and abnormally tightened cheeks which developed after consuming different psychotropic medications. These symptoms did not improve after routine treatment for tardive dyskinesia, but responded well to anticholinergic agents, such as scopolamine and benzhexol hydrochloride. This case extended our understanding of the complexity of extrapyramidal effects and their pharmacologic management. Keywords: neuroleptic, scopolamine, tardive dyskinesia, dystonia

  20. Lower limb post-immobilization dystonia in Parkinson's disease.

    Science.gov (United States)

    Singer, Carlos; Papapetropoulos, Spiridon

    2005-12-15

    Fixed dystonic posturing of the hands and feet may complicate advanced Parkinson's disease (PD) and add considerably to the functional disability of patients. We report 3 PD patients who developed lower limb fixed dystonic posturing after a brief period of immobilization (anemia. This fixed dystonic posturing resulted in severe functional disability. Oral medications failed to control symptoms. Of two patients who received botulinum toxin injections only one experienced benefit. Orthopedic surgery resulted in clinical improvement with increased mobility and independence in one patient. Post-immobilization dystonia of lower limbs in PD is resistant to medical treatment and leads to significant functional disability. Botulinum toxin may provide partial relief in some cases and orthopedic surgery can also be considered.

  1. Therapeutic Use of Non-invasive Brain Stimulation in Dystonia

    Directory of Open Access Journals (Sweden)

    Angelo Quartarone

    2017-07-01

    Full Text Available Repetitive transcranial magnetic stimulation (rTMS and transcranial direct current stimulation (tDCS are non-invasive methods for stimulating cortical neurons that have been increasingly used in the neurology realm and in the neurosciences applied to movement disorders. In addition, these tools have the potential to be delivered as clinically therapeutic approach. Despite several studies support this hypothesis, there are several limitations related to the extreme variability of the stimulation protocols, clinical enrolment and variability of rTMS and tDCS after effects that make clinical interpretation very difficult. Aim of the present study will be to critically discuss the state of art therapeutically applications of rTMS and tDCS in dystonia.

  2. Therapeutic Use of Non-invasive Brain Stimulation in Dystonia.

    Science.gov (United States)

    Quartarone, Angelo; Rizzo, Vincenzo; Terranova, Carmen; Cacciola, Alberto; Milardi, Demetrio; Calamuneri, Alessandro; Chillemi, Gaetana; Girlanda, Paolo

    2017-01-01

    Repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS) are non-invasive methods for stimulating cortical neurons that have been increasingly used in the neurology realm and in the neurosciences applied to movement disorders. In addition, these tools have the potential to be delivered as clinically therapeutic approach. Despite several studies support this hypothesis, there are several limitations related to the extreme variability of the stimulation protocols, clinical enrolment and variability of rTMS and tDCS after effects that make clinical interpretation very difficult. Aim of the present study will be to critically discuss the state of art therapeutically applications of rTMS and tDCS in dystonia.

  3. Tonic dystonia: an uncommon complication of reflex sympathetic dystrophy syndrome. A review of five cases.

    Science.gov (United States)

    Morelet, Aude; Gagneux-Lemoussu, Laurence; Brochot, Pascal; Ackah-Miezan, Stanley; Colmet-Daage, Jean-François; Gaillard, François; Boyer, François; Eschard, Jean-Paul; Etienne, Jean-Claude

    2005-05-01

    Tonic dystonia is an underrecognized complication of reflex sympathetic dystrophy syndrome (RSDS) characterized by an increase in muscle tone at the site of injury. Case-reports.- We describe five cases of tonic dystonia complicating RSDS of the lower extremity. There were four women and one man, with a mean age of 52 years. In addition to the typical features of RSDS, the patients had fixed equinovarus of the foot with hyperextension or hyperflexion of the great toe. In two patients, examination after spinal anesthesia showed that the deformity was reducible. Spontaneous resolution of the dystonia occurred in one patient. Another patient failed to experience meaningful improvement after a motor block followed by botulinic toxin injections. In two patients, the same treatment was followed by a slight improvement. Treatment options are still being evaluated in the last patient. Discussion.- Tonic dystonia is an underrecognized complication of RSDS that often develops after a minor injury yet causes prolonged pain and disability. Spread of the dystonia to other sites is not infrequent. The underlying mechanisms remain unclear but may involve dysfunction of the central or peripheral nervous system or psychogenic factors. Suggested treatments include motor block, intrathecal baclofen, sympathetic block, and sympathectomy. However, none of these treatments has been proved effective. Conclusion.- The five cases described here provide useful information on RSDS-associated tonic dystonia, a condition that runs a protracted course and remains difficult to manage.

  4. Deep brain stimulation for childhood dystonia: Is 'where' as important as in 'whom'?

    Science.gov (United States)

    Lumsden, Daniel E; Kaminska, Margaret; Ashkan, Keyoumars; Selway, Richard; Lin, Jean-Pierre

    2017-01-01

    Deep brain stimulation (DBS) has become a mainstay of dystonia management in adulthood. Typically targeting electrode placement in the GPi, sustained improvement in dystonic symptoms are anticipated in adults with isolated genetic dystonias. Dystonia in childhood is more commonly a symptomatic condition, with dystonia frequently expressed on the background of a structurally abnormal brain. Outcomes following DBS in this setting are much more variable, the reasons for which have yet to be elucidated. Much of the focus on improving outcomes following DBS in dystonia management has been on the importance of patient selection, with, until recently, little discussion of the choice of target. In this review, we advance the argument that patient selection for DBS in childhood cannot be made separate from the choice of target nuclei. The anatomy of common DBS targets is considered, and factors influencing their choice for electrode insertion are discussed. We propose an "ABC" for DBS in childhood dystonia is proposed: Appropriate Child selected; Best nuclei chosen for electrode insertion; Correct position within that nucleus. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  5. Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia.

    Science.gov (United States)

    Pons, Roser; Vanezis, Athanasios; Skouteli, Helen; Papavasiliou, Antigoni; Tziomaki, Magda; Syrengelas, Dimitris; Darras, Nikolaos

    2017-10-01

    Assessment of upper limb function, kinematic analysis, and dystonia in patients with spastic diplegia cerebral palsy and periventricular leukomalacia. Seven children with spastic diplegia cerebral palsy and 8 controls underwent upper limb kinematics. Movement duration, average and maximum linear velocity, index of curvature, index of dystonia, and target accuracy and stability were analyzed. In the patients with spastic diplegia, Gross Motor Function and Manual Ability Classification Systems were determined, and spasticity and dystonia were rated using the Modified Ashworth and the Burke-Fahn-Marsden Dystonia scales respectively. Children with spastic diplegia demonstrated a tendency toward higher index of dystonia reflecting overflow, higher index of curvature, lower velocities, and poor target accuracy and stability. All patients showed clinical evidence of dystonia in the upper limbs. Dystonia scores correlated with the Manual Ability Classification System (r = 0.86, P = .01) and with the index of dystonia (r = 0.82, P = .02). Children with spastic diplegia cerebral palsy present dystonia in the upper limbs. This is functionally relevant and can be measured with kinematic analysis.

  6. Evaluation of functional goal outcomes using the Canadian Occupational Performance Measure (COPM) following Deep Brain Stimulation (DBS) in childhood dystonia.

    Science.gov (United States)

    Gimeno, Hortensia; Tustin, Kylee; Lumsden, Daniel; Ashkan, Keyoumars; Selway, Richard; Lin, Jean-Pierre

    2014-05-01

    To evaluate the functional goal-directed outcomes of Deep Brain Stimulation (DBS) in childhood dystonia according to aetiology and to explore relationship with a traditional impairment-based measure. This is a prospective case series study involving thirty children with dystonia with a 1-year follow-up post-DBS. The Canadian Occupational Performance Measure (COPM) and Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) were used as primary outcome measures. Results were analysed based on aetiology in 3 groups: 1. primary/primary plus dystonia; 2. secondary dystonia-cerebral palsy (CP); 3. secondary dystonia-non-CP group. Correlation between functional outcome using COPM and dystonia improvement as captured by BFMDRS was measured. All groups demonstrated significant improvement in individualised goal attainment, measured with the COPM, at 1-year post-DBS. The secondary dystonia-CP group also achieved significant improvement at 6 months for performance and satisfaction scores. In the majority of secondary dystonias, the BFMDRS failed to demonstrate significant improvement. A linear correlation between change in BFMDRS and COPM scores was observed when the entire cohort was analysed. DBS improved functional performance, independently of the dystonic phenotype. Improvements in individualized COPM functional goal areas were seen in the absence of significant changes in BFMDRS scores, highlighting the relative insensitivity of impairment scales in this patient group. Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  7. Arm Lift (Brachioplasty)

    Science.gov (United States)

    Arm lift Overview An arm lift — also known as brachioplasty — is a cosmetic surgical procedure to improve the appearance of the under portion of your upper arms. During an arm lift, excess skin and fat ...

  8. Basal ganglia modulation of thalamocortical relay in Parkinson's disease and dystonia.

    Science.gov (United States)

    Guo, Yixin; Park, Choongseok; Worth, Robert M; Rubchinsky, Leonid L

    2013-01-01

    Basal ganglia dysfunction has being implied in both Parkinson's disease and dystonia. While these disorders probably involve different cellular and circuit pathologies within and beyond basal ganglia, there may be some shared neurophysiological pathways. For example, pallidotomy and pallidal Deep Brain Stimulation (DBS) are used in symptomatic treatment of both disorders. Both conditions are marked by alterations of rhythmicity of neural activity throughout basal ganglia-thalamocortical circuits. Increased synchronized oscillatory activity in beta band is characteristic of Parkinson's disease, while different frequency bands, theta and alpha, are involved in dystonia. We compare the effect of the activity of GPi, the output nuclei of the basal ganglia, on information processing in the downstream neural circuits of thalamus in Parkinson's disease and dystonia. We use a data-driven computational approach, a computational model of the thalamocortical (TC) cell modulated by experimentally recorded data, to study the differences and similarities of thalamic dynamics in dystonia and Parkinson's disease. Our analysis shows no substantial differences in TC relay between the two conditions. Our results suggest that, similar to Parkinson's disease, a disruption of thalamic processing could also be involved in dystonia. Moreover, the degree to which TC relay fidelity is impaired is approximately the same in both conditions. While Parkinson's disease and dystonia may have different pathologies and differ in the oscillatory content of neural discharge, our results suggest that the effect of patterning of pallidal discharge is similar in both conditions. Furthermore, these results suggest that the mechanisms of GPi DBS in dystonia may involve improvement of TC relay fidelity.

  9. Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress.

    Directory of Open Access Journals (Sweden)

    Justin G Boyer

    2010-03-01

    Full Text Available Dystonin is a giant cytoskeletal protein belonging to the plakin protein family and is believed to crosslink the major filament systems in contractile cells. Previous work has demonstrated skeletal muscle defects in dystonin-deficient dystonia musculorum (dt mice. In this study, we show that the dystonin muscle isoform is localized at the Z-disc, the H zone, the sarcolemma and intercalated discs in cardiac tissue. Based on this localization pattern, we tested whether dystonin-deficiency leads to structural defects in cardiac muscle. Desmin intermediate filament, microfilament, and microtubule subcellular organization appeared normal in dt hearts. Nevertheless, increased transcript levels of atrial natriuretic factor (ANF, 66% beta-myosin heavy chain (beta-MHC, 95% and decreased levels of sarcoplasmic reticulum calcium pump isoform 2A (SERCA2a, 26%, all signs of cardiac muscle stress, were noted in dt hearts. Hearts from two-week old dt mice were assessed for the presence of morphological and histological alterations. Heart to body weight ratios as well as left ventricular wall thickness and left chamber volume measurements were similar between dt and wild-type control mice. Hearts from dt mice also displayed no signs of fibrosis or calcification. Taken together, our data provide new insights into the intricate structure of the sarcomere by situating dystonin in cardiac muscle fibers and suggest that dystonin does not significantly influence the structural organization of cardiac muscle fibers during early postnatal development.

  10. Primary Dystonia: Conceptualizing the Disorder through a Structural Brain Imaging Lens

    Directory of Open Access Journals (Sweden)

    Kristina Simonyan

    2013-06-01

    Full Text Available Background: Dystonia is a hyperkinetic movement disorder of involuntary, twisting repetitive movements. The anatomical structures and pathways implicated in its pathogenesis as well as their relationship to the neurophysiological paradigm of abnormal surround inhibition, maladaptive plasticity and impaired sensorimotor integration remain not well delineated. Objective: We review the use of high-resolution structural brain imaging using voxel-based morphometry (VBM and diffusion tensor imaging (DTI techniques for evaluation of brain changes in primary torsion dystonia and their relationships to the pathophysiology of this disorder. Methods: A search in PubMed was conducted to identify the relevant literature. Discussion: Structural imaging has enhanced our understanding of the pathophysiological mechanisms of dystonia. In particular, VBM and DTI data have revealed microstructural disturbances in the basal ganglia, sensorimotor cortices and cerebellum along with aberrations in the cortico-striato-pallido-thalamic and cerebello-thalamo-cortical pathways.  When combined with functional brain imaging and neurophysiological modalities, a structure-function relationship can be established in the dystonia brain network at the sensorimotor, plasticity, cortical disinhibition and cerebellar outflow connectivity levels. Structural imaging highlighted new anatomical substrates and, with a combined structural-functional approach, has offered new opportunities for investigation of the neurodevelopmental, environmental and/or genetic interplay in the brain networks of dystonia patients. 

  11. Utilization and perceived effectiveness of complementary and alternative medicine in patients with dystonia.

    Science.gov (United States)

    Junker, Judith; Oberwittler, Christoph; Jackson, Didi; Berger, Klaus

    2004-02-01

    The use of complementary and alternative medicine (CAM) is increasing worldwide, especially by patients with chronic diseases. To date, no data are available about utilization and perceived effectiveness of CAM in patients with dystonia. A questionnaire survey on utilization and costs of CAM was completed by 180 members of the German Dystonia Society, a patient advocate group. In total, 131 dystonia patients (73%) were current or former users of CAM, 55 patients used CAM in addition to botulinum toxin A injections, and 86 patients had experience with three or more CAM methods. The options used most widely were acupuncture (56%), relaxation techniques (44%), homeopathy (27%), and massages (26%). Among users of specific CAM methods, breathing therapy, Feldenkrais, massages, and relaxation techniques were perceived as most effective. On average, patients spent 1,513 Euro on CAM without reimbursement. There was no correlation between costs and perceived effectiveness of different methods. In line with other studies on chronically ill patients, our results show that dystonia patients frequently utilize CAM methods, often in addition to conventional treatment. There is a growing need to evaluate scientifically the effect of CAM methods on symptom severity and quality of life in dystonia, to prevent utilization of costly and ineffective CAM treatments.

  12. Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study

    NARCIS (Netherlands)

    Zutt, Rodi; Dijk, Joke M.; Peall, Kathryn J.; Speelman, Hans; Dreissen, Yasmine E. M.; Contarino, Maria Fiorella; Tijssen, Marina A. J.

    2016-01-01

    Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic

  13. Imaging insights into basal ganglia function, Parkinson's disease, and dystonia.

    Science.gov (United States)

    Stoessl, A Jon; Lehericy, Stephane; Strafella, Antonio P

    2014-08-09

    Recent advances in structural and functional imaging have greatly improved our ability to assess normal functions of the basal ganglia, diagnose parkinsonian syndromes, understand the pathophysiology of parkinsonism and other movement disorders, and detect and monitor disease progression. Radionuclide imaging is the best way to detect and monitor dopamine deficiency, and will probably continue to be the best biomarker for assessment of the effects of disease-modifying therapies. However, advances in magnetic resonance enable the separation of patients with Parkinson's disease from healthy controls, and show great promise for differentiation between Parkinson's disease and other akinetic-rigid syndromes. Radionuclide imaging is useful to show the dopaminergic basis for both motor and behavioural complications of Parkinson's disease and its treatment, and alterations in non-dopaminergic systems. Both PET and MRI can be used to study patterns of functional connectivity in the brain, which is disrupted in Parkinson's disease and in association with its complications, and in other basal-ganglia disorders such as dystonia, in which an anatomical substrate is not otherwise apparent. Functional imaging is increasingly used to assess underlying pathological processes such as neuroinflammation and abnormal protein deposition. This imaging is another promising approach to assess the effects of treatments designed to slow disease progression. Copyright © 2014 Elsevier Ltd. All rights reserved.

  14. Acute Dystonia in a Child Receiving Metoclopramide: Case Report

    Directory of Open Access Journals (Sweden)

    Alaaddin Yorulmaz

    2016-11-01

    Full Text Available Metoclopramide is a benzamide that is a dopamine receptor, often preferred as a prokinetic agent to accelerate gastrointestinal passage in the treatment of gastroesophageal reflux disease; itis also used as an antiemetic agent in many diseases that progress with nausea-vomiting. It is effective on the digestive system both centrally and peripherally. It easily overcomes the blood-brain barrier and may create side effects pertaining to the extrapyramidal system. Acute dystonic reaction is rare among these side effects; it is, however, a condition that needs to be treated urgently. This paper presents a 5-month-old infant patient who developed acute dystonic reaction secondary to the use of Metpamid at a high dose. The diagnosis in this case was made based onpatient history. The patient%u2019s symptoms rapidly disappeared thanks to treatment with diphenhydramine. It should be remembered that metoclopramide may cause side effects in patients presenting to the emergency service with acute dystonia, soa complete history of drugs should definitely be taken for such patients.

  15. Comparing endophenotypes in adult-onset primary torsion dystonia.

    LENUS (Irish Health Repository)

    Bradley, David

    2012-02-01

    Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.

  16. A psychogenic dystonia perfect responsive to antidepressant treatment.

    Directory of Open Access Journals (Sweden)

    Volkan Solmaz

    2014-03-01

    Full Text Available After ruling out of organic causes, movement disorders are named as psychogenic movement disorders, it can mimic perfectly Organic movement disorders, but with a good history, clinical observations and detailed examination is very helpful in the diagnosis of this disease. In here we will present a 15 years old male patient, he was complaining of urinary incontinence at night, emerging dystonic posture especially in crowded environments, eating, and during activities that require attention, for 5 years. Self and family history was unremarkable. His physical and neurological examination was normal except for dystonic posture esipecially writing and when doing skilled jobs. All the tests were normal for the differential diagnosis. Taking into account the patient\\s clinical findings and cilinical test, the patient was diagnosed as psychogenic dystonia. He gave a very good response to treatment with antidepressants and psychotherapy. As a result, in clinical practice both the diagnostic and therapeutic challenges the psychogenic movement disorders is an important problem, and to get rid of the negative effects of unnecessary diagnostic test and side efects of treatment, you need to keep in mind this diagnosis. [J Contemp Med 2014; 4(1.000: 29-31

  17. Effort, success, and nonuse determine arm choice.

    Science.gov (United States)

    Schweighofer, Nicolas; Xiao, Yupeng; Kim, Sujin; Yoshioka, Toshinori; Gordon, James; Osu, Rieko

    2015-07-01

    How do humans choose one arm or the other to reach single targets in front of the body? Current theories of reward-driven decisionmaking predict that choice results from a comparison of "action values," which are the expected rewards for possible actions in a given state. In addition, current theories of motor control predict that in planning arm movements, humans minimize an expected motor cost that balances motor effort and endpoint accuracy. Here, we test the hypotheses that arm choice is determined by comparison of action values comprising expected effort and expected task success for each arm, as well as a handedness bias. Right-handed subjects, in either a large or small target condition, were first instructed to use each hand in turn to shoot through an array of targets and then to choose either hand to shoot through the same targets. Effort was estimated via inverse kinematics and dynamics. A mixed-effects logistic-regression analysis showed that, as predicted, both expected effort and expected success predicted choice, as did arm use in the preceding trial. Finally, individual parameter estimation showed that the handedness bias correlated with mean difference between right- and left-arm success, leading to overall lower use of the left arm. We discuss our results in light of arm nonuse in individuals' poststroke. Copyright © 2015 the American Physiological Society.

  18. Low Frequency Deep Brain Stimulation for Dystonia: Lower is Not Always Better

    Directory of Open Access Journals (Sweden)

    Frances M. Velez-Lago

    2012-02-01

    Full Text Available Background:  It has been observed that low-frequency stimulation (LFS may be effective for dystonia, and the use of LFS may alleviate the need for frequent battery changes in a subset of patients. The aim of this study was to analyze LFS as a strategy to treat deep brain stimulation (DBS patients with various dystonias. Methods: Subjects had to receive a minimum of 6 months of clinical follow-up at the University of Florida, and were required to have a minimum of 3 months on a LFS trial. Twenty-seven dystonia DBS patients were retrospectively analyzed from the UF-INFORM database.Results: Thirteen subjects met inclusion criteria. Of the 13 subjects, all had bilateral internal pallidum (GPi DBS, and five (38.5% remained with at least one side on LFS settings at their last follow up (average follow up 24 months, range 6–46 months. Within the first 6 months, six (46% subjects remained on LFS and seven (54% were changed to high-frequency stimulation (HFS. Those who remained on LFS settings at 6 months were characterized by shorter disease durations than those on HFS settings. There were no significant differences in dystonia severity (Unified Dystonia Rating Scale and Burke–Fahn–Marsden Dystonia Rating Scale at baseline between the two settings. The estimated battery life for LFS (79.9±30.5 was significantly longer than for HFS settings (32.2±13.1, p<0.001 Discussion: LFS was ultimately chosen for 38.5% of all subjects. Although this study failed to yield solid predictive features, subjects on LFS tended to have shorter disease durations.

  19. Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.

    Science.gov (United States)

    Picillo, Marina; Lozano, Andres M; Kou, Nancy; Munhoz, Renato Puppi; Fasano, Alfonso

    2016-01-01

    Deep brain stimulation (DBS) is an effective treatment for essential tremor (ET) and dystonia. After surgery, a number of extensive programming sessions are performed, mainly relying on neurologist's personal experience as no programming guidelines have been provided so far, with the exception of recommendations provided by groups of experts. Finally, fewer information is available for the management of DBS in ET and dystonia compared with Parkinson's disease. Our aim is to review the literature on initial and follow-up DBS programming procedures for ET and dystonia and integrate the results with our current practice at Toronto Western Hospital (TWH) to develop standardized DBS programming protocols. We conducted a literature search of PubMed from inception to July 2014 with the keywords "balance", "bradykinesia", "deep brain stimulation", "dysarthria", "dystonia", "gait disturbances", "initial programming", "loss of benefit", "micrographia", "speech", "speech difficulties" and "tremor". Seventy-six papers were considered for this review. Based on the literature review and our experience at TWH, we refined three algorithms for management of ET, including: (1) initial programming, (2) management of balance and speech issues and (3) loss of stimulation benefit. We also depicted algorithms for the management of dystonia, including: (1) initial programming and (2) management of stimulation-induced hypokinesia (shuffling gait, micrographia and speech impairment). We propose five algorithms tailored to an individualized approach to managing ET and dystonia patients with DBS. We encourage the application of these algorithms to supplement current standards of care in established as well as new DBS centers to test the clinical usefulness of these algorithms in supplementing the current standards of care. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. A post hoc study on gene panel analysis for the diagnosis of dystonia.

    Science.gov (United States)

    van Egmond, Martje E; Lugtenberg, Coen H A; Brouwer, Oebele F; Contarino, Maria Fiorella; Fung, Victor S C; Heiner-Fokkema, M Rebecca; van Hilten, Jacobus J; van der Hout, Annemarie H; Peall, Kathryn J; Sinke, Richard J; Roze, Emmanuel; Verschuuren-Bemelmans, Corien C; Willemsen, Michel A; Wolf, Nicole I; Tijssen, Marina A; de Koning, Tom J

    2017-04-01

    Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis. In this post hoc study, we describe gene panel analysis results of 61 dystonia patients (mean age, 31 years; 72% young onset) in our tertiary referral center. The panel covered 94 dystonia-associated genes. As comparison with a historic cohort was not possible because of the rapidly growing list of dystonia genes, we compared the diagnostic workup with and without gene panel analysis in the same patients. The workup without gene panel analysis (control group) included theoretical diagnostic strategies formulated by independent experts in the field, based on detailed case descriptions. The primary outcome measure was diagnostic yield; secondary measures were cost and duration of diagnostic workup. Workup with gene panel analysis led to a confirmed molecular diagnosis in 14.8%, versus 7.4% in the control group (P = 0.096). In the control group, on average 3 genes/case were requested. The mean costs were lower in the gene panel analysis group (€1822/case) than in the controls (€2660/case). The duration of the workup was considerably shorter with gene panel analysis (28 vs 102 days). Gene panel analysis facilitates molecular diagnosis in complex cases of dystonia, with a good diagnostic yield (14.8%), a quicker diagnostic workup, and lower costs, representing a major improvement for patients and their families. © 2016 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  1. Dopa-Responsive Dystonia and gait analysis: A case study of levodopa therapeutic effects.

    Science.gov (United States)

    Rebour, Rémi; Delporte, Ludovic; Revol, Patrice; Arsenault, Lisette; Mizuno, Katsuhiro; Broussolle, Emmanuel; Luauté, Jacques; Rossetti, Yves

    2015-06-01

    Patients suffering Dopa-Responsive Dystonia present dystonia, abnormal postural balance and gait impairment. Treatment with levodopa typically improves these three symptoms. The present study provides an extensive analysis of gait and posture in a patient with Dopa-Responsive Dystonia, prior to and during levodopa therapy. The patient was assessed with the Unified Dystonia Rating Scale, underwent motion analysis with an optoelectronic system and postural analysis with force plates. This study provides a detailed quantification of gait parameters in a Dopa-Responsive Dystonia patient. Prior to treatment, mean walking speed was severely reduced, gait cadence and step length were decreased and stride width was increased. Right lower limb and pelvis showed kinematic defects, trunk and Centre of Mass were backwards. During levodopa therapy, the walking speed was doubled, gait cadence and step length were increased and stride width was reduced. Nearly all kinematic parameters of lower limbs were significantly improved. The patient's Centre of Mass during gait and Centre of pressure in static position both shifted forward. Levodopa dramatically decreased dystonia and improved spatio-temporal, kinematic and posture parameters. Our main pathophysiological hypothesis is that trunk tilt and its consequences on the Centre of Mass position have a pivotal influence on gait and balance, explaining both the initial impairments and the therapeutic effects. Gait analysis proves to be an effective tool to understand the pathophysiology of this patient, the therapeutic effects and mild residual gait defects in order to plan further rehabilitation strategy for this DRD patient. We propose that it will also prove to be useful for the exploration of other dystonic patients. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  2. Twiddler's syndrome in a patient with a deep brain stimulation device for generalized dystonia

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Schweder, Patrick M; Joint, Carole

    2011-01-01

    Deep brain stimulation (DBS) is the technique of neurostimulation of deep brain structures for the treatment of conditions such as essential tremor, dystonia, Parkinson's disease and chronic pain syndromes. The procedure uses implanted deep brain stimulation electrodes connected to extension leads...... and an implantable pulse generator (IPG). Hardware failure related to the DBS procedure is not infrequent, and includes electrode migration and disconnection. We describe a patient who received bilateral globus pallidus internus DBS for dystonia with initially good clinical response, but the device eventually failed...... risk. Twiddler's syndrome should be suspected whenever there is a failure of the DBS device to relieve symptoms previously responsive to stimulation. Surgical correction is usually required....

  3. A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia

    DEFF Research Database (Denmark)

    Schjerling, Lisbeth; Hjermind, Lena E; Jespersen, Bo

    2013-01-01

    Object The authors' aim was to compare the subthalamic nucleus (STN) with the globus pallidus internus (GPi) as a stimulation target for deep brain stimulation (DBS) for medically refractory dystonia. Methods In a prospective double-blind crossover study, electrodes were bilaterally implanted...... in the STN and GPi of 12 patients with focal, multifocal, or generalized dystonia. Each patient was randomly selected to undergo initial bilateral stimulation of either the STN or the GPi for 6 months, followed by bilateral stimulation of the other nucleus for another 6 months. Preoperative and postoperative...

  4. Long-term treatment effects of sensory motor retuning in a pianist with focal dystonia.

    Science.gov (United States)

    Rosset-Llobet, Jaume; Fàbregas-Molas, Sílvia

    2011-06-01

    Here we present the case of a pianist suffering from unilateral focal hand dystonia for 10 yrs which affected his piano playing as well as other activities of daily life. The treatment applied was sensory motor retuning (SMR), a behavioral treatment for focal hand dystonia. Improvement was clearly achieved from the beginning of therapy. After 10 mos of treatment, performance levels were comparable to those before illness onset. The patient returned to high-level piano playing, and after 8 yrs of follow-up, performance remains normal.

  5. Botulinum toxin versus trihexyphenidyl in cervical dystonia: a prospective, randomized, double-blind controlled trial

    NARCIS (Netherlands)

    Brans, J. W.; Lindeboom, R.; Snoek, J. W.; Zwarts, M. J.; van Weerden, T. W.; Brunt, E. R.; van Hilten, J. J.; van der Kamp, W.; Prins, M. H.; Speelman, J. D.

    1996-01-01

    Botulinum toxin type A (BTA) is replacing trihexyphenidyl as the treatment of choice for idiopathic cervical dystonia (ICD), but there has never been a direct comparative study. This trial compares the effectiveness of BTA with that of trihexyphenidyl in a prospective, randomized, double-blind

  6. Evaluation of the efficacy of deep brain stimulation in the surgical treatment of cervical dystonia.

    Science.gov (United States)

    Calheiros-Trigo, Francisca; Linhares, Paulo

    2014-01-01

    Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a promising therapeutic option for patients with medically refractory dystonia. We present the results after 1 year of DBS of the GPi in 4 patients with cervical dystonia. Four patients with medically refractory cervical dystonia who underwent stereotactic pallidal DBS surgery between June 2010 and November 2011 were included in this retrospective study. Preoperative and postoperative evaluations at 3, 6 and 12 months after surgery were performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). The 4 patients experienced a sustained improvement, with a mean TWSTRS reduction of 74.25%, at 12 months follow-up. Disability improved by 80.5% (mean) at 1 year follow-up. No stimulation-related side effects were reported. Pallidal DBS is a valid and effective second-line treatment for patients with cervical focal dystonia. Our results support its use in patients with an insufficient response to medical treatment. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  7. Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor

    NARCIS (Netherlands)

    Zoons, Evelien; Booij, Jan; Delnooz, Catherine C. S.; Dijk, Joke M.; Dreissen, Yasmine E. M.; Koelman, Johannes H. T. M.; van der Salm, Sandra M. A.; Skorvanek, Matej; Smit, Marenka; Aramideh, Majid; Bienfait, Henriette; Boon, Agnita J. W.; Brans, Jeroen W. M.; Hoogerwaard, Edo; Hovestadt, Ad; Kamphuis, Daan J.; Munts, Alexander G.; Speelman, Johannes D.; Tijssen, Marina A. J.

    2018-01-01

    Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI)

  8. Clinicopathological Correlates in a PRNP P102L Mutation Carrier with Rapidly Progressing Parkinsonism-dystonia

    Science.gov (United States)

    Umeh, Chizoba C.; Kalakoti, Piyush; Greenberg, Michael K; Notari, Silvio; Cohen, Yvonne; Gambetti, Pierluigi; Oblak, Adrian L.; Ghetti, Bernardino; Mari, Zoltan

    2015-01-01

    Parkinsonism-dystonia is rare in carriers of PRNP P102L mutation. Severity and distribution of prion protein (PrP) deposition may influence the clinical presentation. We present such clinic-pathological correlation in a 56-year-old male with a PRNP P102L mutation associated with a phenotype characterized by rapidly progressing parkinsonism-dystonia. The patient was studied clinically (videotaped exams, brain MRIs); molecular genetically (gene sequence analysis); and neuropathologically (histology, immunohistochemistry) during his 7-month disease course. The patient had parkinsonism, apraxia, aphasia, and dystonia, which progressed rapidly. Molecular genetic analysis revealed PRNP P102L mutation carrier status. Brain MRIs revealed progressive global volume loss and T2/FLAIR hyperintensity in neocortex and basal ganglia. Postmortem examination showed neuronal loss, gliosis, spongiform changes, and PrP deposition in the striatum. PrP immunohistochemistry revealed widespread severe PrP deposition in the thalamus and cerebellar cortex. Based on the neuropathological and molecular-genetic analysis, the rapidly progressing parkinsonism-dystonia correlated with nigrostriatal, thalamic, and cerebellar pathology. PMID:27617269

  9. Focal Hand Dystonia as a Sign of Demyelinating Attack in Multipl Sclerosis: 'Report of Three Cases’

    Directory of Open Access Journals (Sweden)

    Özge Öcek

    2014-12-01

    Full Text Available Although it is known that dystonia is a basal ganglia disease, dystonic symptoms have been observed in association with lesions of various sites located in sensory and motor pathways. We report three cases of paroxysmal focal hand dystonia, which may be due to the damage of the somatosensorial pathways in the cervical spinal cord. We suggest that the dystonia in our patients may be related to these active demyelinating cervical plaques. Two female and one male patients with definite relapsing remitting MS between the ages of 22 to 45 were admitted with serious disability while using their right hands. In all three cases abnormal posture in the right hand and involuntary sustained contractions together with minor choreiform movements of the fingers were observed. Cervical MRI showed contrast-enhancing demyelinating lesions at the level of C2-3 in all. In one of the patient’s cranial MRI revealed also two new contrast-enhancing plaques on the neighbourhood of right posterior lateral ventricle and parietal cortex. No new or enhancing lesion was detected in the basal ganglia; indicating that the cervical spinal cord lesions were responsible for hand dystonia. In one of the patients, the right median SEP response was absent in accordance with the clinical symptom. All three patients were treated with 1 gram intravenous methylprednisolone a day for 5-10 days. Approximately one month later clinical symptoms have been completely disappeared and control cervical MRI revealed resolution of the active lesions in all.

  10. Management of tongue and lip laceration due to dystonia in a 1-year-old infant

    Directory of Open Access Journals (Sweden)

    J P Beena

    2017-01-01

    Full Text Available This case report describes the management of tongue and lip lacerations due to dystonia in a 1-year-old infant. A splint was given to raise the bite and prevent repeated trauma and aid in healing of the oral tissue. This paper highlights the importance of pediatric dentist's role in improving quality of patient care in an intensive care unit.

  11. Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation

    Directory of Open Access Journals (Sweden)

    Ritesh Ramdhani

    2016-03-01

    Full Text Available Background: Myoclonus–dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE. In medically refractory cases, deep brain stimulation (DBS has been shown to provide marked sustainable clinical improvement, especially in SGCE-positive patients. We present two patients with myoclonus–dystonia (one SGCE positive and the other SGCE negative who have the isolated myoclonus phenotype and had DBS leads implanted in the bilateral globus pallidus internus (GPi. Methods: We review their longitudinal Unified Myoclonus Rating Scale scores along with their DBS programming parameters and compare them with published cases in the literature. Results: Both patients demonstrated complete amelioration of all aspects of myoclonus within 6–12 months after surgery. The patient with the SGCE-negative mutation responded just as well as the patient who was SGCE positive. High-frequency stimulation (130 Hz with amplitudes greater than 2.5 V provided therapeutic benefit. Discussion: This case series demonstrates that high frequency GPi-DBS is effective in treating isolated myoclonus in myoclonus–dystonia, regardless of the presence of SGCE mutation.

  12. Integration of Sensory Force Feedback Is Disturbed in CRPS-Related Dystonia

    NARCIS (Netherlands)

    Mugge, W.; van der Helm, F.C.T.; Schouten, Alfred Christiaan

    2013-01-01

    Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed

  13. A Novel Animal Model for Investigating the Neural Basis of Focal Dystonia

    Science.gov (United States)

    2016-09-01

    plasticity of the human motor cortex in writer’s cramp . Brain. 2003;126:2586–2596. 46. Quartarone A, Morgante F, Sant’angelo A, Rizzo V, Bagnato S...Evinger C. Animal model explains the origins of the cranial dystonia benign essential blepharospasm. J Neurophysiol. 1997;77:2842–2846. 51. Perlmutter JS

  14. [Effects of an hydrotherapy program in the treatment of cervical dystonia. A pilot study].

    Science.gov (United States)

    Useros-Olmo, Ana Isabel; Collado-Vázquez, Susana

    2010-12-01

    Cervical dystonia may also cause limitation in articulation mobility and alteration of the balance, both accompanied with pain. AIM. To evaluate if hydrotherapy produces decrease of pain, increase in mobility and balance in patients diagnosed with cervical dystonia. A pre-post treatment pilot study was carried out without group control, with a sample of 16 patients (13 female and 3 male) diagnosed with cervical dystonia. The patients received an hydrotherapy treatment consisted of three individual sessions and three grupal sessions of aquatic exercises. In the pre-treatment phase the disability, severity and pain were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS); the balance was evaluated by means of the Get up and Go and Tinetti tests. In addition, the range of active mobility of the neck was measured with tape. The test were measured pre and post-treatment. The Student t showed a significant difference (p hydrotherapy can be related a positive influence in cervical dystonia, producing neck mobility and balance improvements and pain decrease. Future studies are necessary.

  15. Effects of intrathecal baclofen on daily care in children with secondary generalized dystonia: A pilot study

    NARCIS (Netherlands)

    Bonouvrié, L.A.; van Schie, P.E.M.; Becher, J.G.; van Ouwerkerk, W.J.R.; Reeuwijk, A.; Vermeulen, R.J.

    2011-01-01

    Aim: Treatment options for dystonic cerebral palsy (CP) are limited. Our aims were to determine whether intrathecal baclofen (ITB) improves daily care, decreases dystonia and decreases pain in patients with dystonic CP. Methods: Patients received randomized blinded treatment with ITB or placebo.

  16. Dystonia not dystopia: effects of the legal high, ‘Clockwork Orange’

    Science.gov (United States)

    Mackey, Helen Elizabeth; Hawksley, Oliver

    2015-01-01

    A 27-year-old man presented to hospital after smoking a legal high named ‘Clockwork Orange’. He suffered dystonia, acute kidney injury, rhabdomyolysis, lactic acidosis and a troponin rise. He was treated with procyclidine and intravenous fluids. PMID:26660763

  17. Dystonia in children and adolescents : a systematic review and a new diagnostic algorithm

    NARCIS (Netherlands)

    van Egmond, Martje E.; Kuiper, Anouk; Eggink, Hendriekje; Sinke, Richard J.; Brouwer, Oebele F.; Verschuuren - Bemelmans, Corien C.; Sival, Deborah A.; Tijssen, Marina A. J.; de Koning, Tom J.

    Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm

  18. Fixed Dystonia in Complex Regional Pain Syndrome : A Descriptive and Computational Modeling Approach

    NARCIS (Netherlands)

    Munts, A.G.; Mugge, W.; Meurs, T.S.; Schouten, A.C.; Marinus, J.; Lorimer Moseley, G.; Van der Helm, F.C.T.; Van Hilten, J.J.

    2011-01-01

    Background: Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has

  19. Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar São João Neurogenetics Group

    OpenAIRE

    Ana Monteiro; João Massano; Miguel Leão; Carolina Garrett; Em nome do Grupo de Neurogenética do Centro Hospitalar São João

    2017-01-01

    The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of gene...

  20. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

    Science.gov (United States)

    Bradley, D; Whelan, R; Walsh, R; Reilly, R B; Hutchinson, S; Molloy, F; Hutchinson, M

    2009-09-01

    Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination thresholds (TDTs) are abnormal in adult-onset primary torsion dystonia, but their utility as a possible endophenotype has not been examined. We examined 35 adult-onset primary torsion dystonia patients (17 familial, 18 sporadic), 42 unaffected first-degree relatives of both familial and sporadic adult-onset primary torsion dystonia patients, 32 unaffected second-degree relatives of familial adult-onset primary torsion dystonia (AOPTD) patients and 43 control subjects. TDT was measured using visual and tactile stimuli. In 33 unaffected relatives, voxel-based morphometry was used to compare putaminal volumes between relatives with abnormal and normal TDTs. The mean TDT in 26 control subjects under 50 years of age was 22.85 ms (SD 8.00; 95% CI: 19.62-26.09 ms). The mean TDT in 17 control subjects over 50 years was 30.87 ms (SD 5.48; 95% CI: 28.05-33.69 ms). The upper limit of normal, defined as control mean + 2.5 SD, was 42.86 ms in the under 50 years group and 44.58 ms in the over 50 years group. Thirty out of thirty-five (86%) AOPTD patients had abnormal TDTs with similar frequencies of abnormalities in sporadic and familial patients. Twenty-two out of forty-two (52%) unaffected first-degree relatives had abnormal TDTs with similar frequencies in relatives of sporadic and familial AOPTD patients. Abnormal TDTs were found in 16/32 (50%) of second-degree relatives. Voxel-based morphometry analysis comparing 13 unaffected relatives with abnormal TDTs and 20 with normal TDTs demonstrated a bilateral increase in putaminal grey matter in unaffected relatives with abnormal

  1. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

    LENUS (Irish Health Repository)

    Bradley, D

    2012-02-01

    Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination thresholds (TDTs) are abnormal in adult-onset primary torsion dystonia, but their utility as a possible endophenotype has not been examined. We examined 35 adult-onset primary torsion dystonia patients (17 familial, 18 sporadic), 42 unaffected first-degree relatives of both familial and sporadic adult-onset primary torsion dystonia patients, 32 unaffected second-degree relatives of familial adult-onset primary torsion dystonia (AOPTD) patients and 43 control subjects. TDT was measured using visual and tactile stimuli. In 33 unaffected relatives, voxel-based morphometry was used to compare putaminal volumes between relatives with abnormal and normal TDTs. The mean TDT in 26 control subjects under 50 years of age was 22.85 ms (SD 8.00; 95% CI: 19.62-26.09 ms). The mean TDT in 17 control subjects over 50 years was 30.87 ms (SD 5.48; 95% CI: 28.05-33.69 ms). The upper limit of normal, defined as control mean + 2.5 SD, was 42.86 ms in the under 50 years group and 44.58 ms in the over 50 years group. Thirty out of thirty-five (86%) AOPTD patients had abnormal TDTs with similar frequencies of abnormalities in sporadic and familial patients. Twenty-two out of forty-two (52%) unaffected first-degree relatives had abnormal TDTs with similar frequencies in relatives of sporadic and familial AOPTD patients. Abnormal TDTs were found in 16\\/32 (50%) of second-degree relatives. Voxel-based morphometry analysis comparing 13 unaffected relatives with abnormal TDTs and 20 with normal TDTs demonstrated a bilateral increase in putaminal grey matter in unaffected relatives with abnormal

  2. Paraneoplastic jaw dystonia and laryngospasm with antineuronal nuclear autoantibody type 2 (anti-Ri).

    Science.gov (United States)

    Pittock, Sean J; Parisi, Joseph E; McKeon, Andrew; Roemer, Shanu F; Lucchinetti, Claudia F; Tan, K Meng; Keegan, B Mark; Hunter, Samuel F; Duncan, Paul R; Baehring, Joachim M; Matsumoto, Joseph Y; Lennon, Vanda A

    2010-09-01

    Opsoclonus-myoclonus syndrome and breast carcinoma were initially described as neurologic and oncologic accompaniments of antineuronal nuclear autoantibody type 2 (ANNA-2, also known as anti-Ri). However, the neurologic spectrum of ANNA-2 autoimmunity is broader, includes a syndrome of jaw dystonia and laryngospasm, and can be accompanied by lung carcinoma. To describe clinically (with a video) ANNA-2-associated jaw dystonia and laryngospasm, its pathologic correlates, and therapeutic outcomes. Retrospective case series with prospective clinical follow-up. Mayo Clinic's Neuroimmunology Laboratory, Rochester, Minnesota. Consecutive patients with ANNA-2 seropositivity identified since January 1, 1990. Clinical (in 9 patients) and neuropathologic (in 2 patients) findings were reviewed. Of 48 patients with ANNA-2 seropositivity, 9 (19%) had multifocal neurologic manifestations that included jaw dystonia and laryngospasm. Among 6 patients with jaw dystonia, 5 had severely impaired nutrition, causing profound weight loss. Five patients had documented laryngospasm, which contributed to 1 patient's death. Neuropathologic examination revealed diffuse infiltration by CD8(+) T lymphocytes, with axonal loss and gliosis in brainstem and descending spinal cord tracts. Some patients improved symptomatically after immunosuppressant or cytotoxic therapies; 1 patient improved after treatment with botulinum toxin. One patient who underwent tracheostomy because of recurrent laryngospasm was alive and well longer than 3 years after symptom onset. Jaw dystonia and laryngospasm are common accompaniments of ANNA-2 autoimmunity and are associated with significant morbidity. We propose that selective damage to antigen-containing inhibitory fibers innervating bulbar motor nuclei by CD8(+) T lymphocytes (histopathologically observed infiltrating brainstem reticular formation) is the proximal cause of this syndrome. Early and aggressive therapy offers the prospect of neurologic improvement or

  3. Body weight gain in patients with bilateral deep brain stimulation for dystonia.

    Science.gov (United States)

    Wolf, Marc E; Capelle, Hans-Holger; Lütjens, Götz; Ebert, Anne D; Hennerici, Michael G; Krauss, Joachim K; Blahak, Christian

    2016-03-01

    In patients with Parkinson's disease, significant weight gain following chronic deep brain stimulation (DBS) has been reported. Recently, relevant weight gain could be demonstrated also following subthalamic nucleus DBS in patients with primary cervical dystonia. Prospective analyses of body weight changes following DBS in patients with dystonia, however, have not been published so far. We aimed to analyse the changes of body weight following DBS in patients with dystonia. The body mass index (BMI) of 17 consecutive patients with segmental or generalised dystonia (mean age 54.6 ± 16.1 years) treated with bilateral DBS of the globus pallidus internus (GPi) (n = 14) or the thalamic ventral intermediate nucleus (n = 3) was measured preoperatively (pre-OP) and at three follow-up (FU) time points post-DBS surgery (FU1 = 7 months, FU2 = 17 months, FU3 = 72 months). All patients benefited from marked improvement in their dystonia. The mean BMI pre-OP (SD) was 22.5 (±3.7) kg/m(2) and increased stepwise to 24.0 (±3.3) kg/m(2) at FU1, 24.4 (±3.7) kg/m(2) at FU2 and 24.9 (±3.7) kg/m(2) at FU3 (p body weight gain, in particular during the first 6 months post-OP. This probably is a result of improvement of dystonic motor symptoms and recovery of eating dysfunction rather than a target-specific phenomenon.

  4. ARE LEFT HANDED SURGEONS LEFT OUT?

    OpenAIRE

    SriKamkshi Kothandaraman; Balasubramanian Thiagarajan

    2012-01-01

    Being a left-handed surgeon, more specifically a left-handed ENT surgeon, presents a unique pattern of difficulties.This article is an overview of left-handedness and a personal account of the specific difficulties a left-handed ENT surgeon faces.

  5. Cost-effectiveness analysis of abobotulinumtoxinA for the treatment of cervical dystonia in the United Kingdom

    Directory of Open Access Journals (Sweden)

    Muthukumar M

    2017-04-01

    Full Text Available Madhusubramanian Muthukumar,1 Kamal Desai,1 Seye Abogunrin,2 Timothy Harrower,3 Sylvie Gabriel,4 Jerome Dinet5 1Modelling and Simulation, 2Meta Research, Evidera, London, 3Royal Devon and Exeter NHS Foundation Trust, Exeter, UK; 4Global Market Access and Pricing, 5Health Economics and Outcomes Research (Global, Ipsen Pharma, Boulogne-Billancourt, France Background: Cervical dystonia (CD involves painful involuntary contraction of the neck and shoulder muscles and abnormal posture in middle-aged adults. Botulinum neurotoxin type A (BoNT-A is effective in treating CD but little is known about its associated cost-effectiveness.Objective: To evaluate the cost-effectiveness of abobotulinumtoxinA for treating CD from the UK payer perspective.Methods: A Markov model was developed to evaluate the cost-effectiveness of abobotulinumtoxinA versus best supportive care (BSC in CD, with a lifetime horizon and health states for response, nonresponse, secondary nonresponse, and BSC in patients with CD (mean age: 53 years; 37% male. Clinical improvement measured using Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS was mapped to utility using data from a randomized trial of abobotulinumtoxinA. Health care resource use, costs, and other inputs were from the British National Formulary, Personal Social Services Research Unit, published literature, or expert opinion. Costs and outcomes were discounted at 3.5% per annum.Results: In the base case, the incremental lifetime quality-adjusted life-years (QALYs gained from abobotulinumtoxinA arm versus BSC was 0.253 per patient, whereas the incremental cost was £7,160, leading to an incremental cost-effectiveness ratio (ICER of £30,468 per QALY. One-way sensitivity analyses showed that these results were sensitive to the proportion of responders to abobotulinumtoxinA at first injection, duration between injections, the number of reinjections allowed among primary nonresponders, and any difference in

  6. Evaluation of the quality of life in patients with segmental dystonia

    Directory of Open Access Journals (Sweden)

    Basurović Nataša

    2012-01-01

    Full Text Available Background/Aim. Segmental dystonia is an abnormal movement, characterized by involuntary, sustained and repetitive muscular contractions, causing twisting and abnormal posturing of two or more adjacent body parts. It is not a life-reducing condition, but it deteriorates physical, mental and social functioning. The aim of the study was to define the basic demographic and clinical characteristics of patients with segmental dystonia and to estimate their quality of life. Methods. The study included patients treated at the Clinic for Neurology - Clinical Center of Serbia (Department for Involuntary Movements. The patients with idiopathic segmental dystonia fulfilled the following questionnaires: general questionnaire, standard questionnaire for estimation of the quality of life SF 36, a list of questionnaires related to disease, and social participation scales. Statistical analysis involving the methods of descriptive statistics and linear regression analysis was used for predictive values of the characteristics. Results. The study included 28 patients with segmental dystonia, the mean age of 53.1 ± 15.8 years. Analysis of SF 36 questionnaire item domains showed that patients with segmental dystonia had the lowest score in the domain of body pain (30.6 ± 28.2 and the highest in the domain of physical function (73.6 ± 19.6. Higher values of the scale of the disease severity (β= -0.526, 95% CI -4.719, -0.996; p = 0.0004 and Hamilton depression scale (β= - 0.498, 95% CI -1.295, -0.227; p = 0.0007 were more significant predictors of low quality of life. Higher value of the Leisure activities scale (β= 0.611, 95% CI 0.242, 0.772; p = 0.001 was a significant predictor of better quality of life. Conclusion. The most important predictors of low quality of life in patients with segmental dystonia were disease severity, low acceptance of illness, depression and low self-esteem. [Projekat Ministarstva nauke Republike Srbije, br. 175090 and 175087

  7. Improved orthopedic arm joint

    Science.gov (United States)

    Dane, D. H.

    1971-01-01

    Joint permits smooth and easy movement of disabled arm and is smaller, lighter and less expensive than previous models. Device is interchangeable and may be used on either arm at the shoulder or at the elbow.

  8. Arm Injuries and Disorders

    Science.gov (United States)

    ... your body, three of them are in your arm: the humerus, radius, and ulna. Your arms are also made up of muscles, joints, tendons, ... Injuries to any of these parts of the arm can occur during sports, a fall, or an ...

  9. On Denny-Brown's 'spastic dystonia' - What is it and what causes it?

    DEFF Research Database (Denmark)

    Lorentzen, Jakob; Pradines, Maud; Gracies, Jean-Michel

    2018-01-01

    In this review, we will work around two simple definitions of two different entities, which most often co-exist in patients with lesions to central motor pathways: Spasticity is “Enhanced excitability of velocity-dependent responses to phasic stretch at rest”, which will not be the subject...... of this review, while Spastic dystonia is tonic, chronic, involuntary muscle contraction in the absence of any stretch or any voluntary command (Gracies, 2005). Spastic dystonia is a much less well understood entity that will be the subject this review. Denny-Brown (1966) observed involuntary sustained muscle...... activity in monkeys with lesions restricted to the motor cortices . He further observed that such involuntary muscle activity persisted following abolition of sensory input to the spinal cord and concluded that a central mechanism rather than exaggerated stretch reflex activity had to be involved. He...

  10. Contribution of TMS and rTMS in the understanding of the pathophysiology and in the treatment of dystonia.

    Directory of Open Access Journals (Sweden)

    Pierre Lozeron

    2016-11-01

    Full Text Available Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug’s side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop. However, basal ganglia lesions do not consistently produce dystonia and lesions outside basal ganglia can lead to dystonia; mild sensory abnormalities have been reported in the dystonic limb and imaging studies have shown involvement of multiple other brain regions including the cerebellum and the cerebral motor, premotor and sensorimotor cortices. Transcranial magnetic stimulation (TMS is a non-invasive technique of brain stimulation with a magnetic field applied over the cortex allowing investigation of cortical excitability. Hyperexcitability of contralateral motor cortex has been suggested to be the trigger of focal dystonia. High or low frequency repetitive TMS (rTMS can induce excitatory or inhibitory lasting effects beyond the time of stimulation and protocols have been developed having either a positive or a negative effect on cortical excitability and associated with prevention of cell death, γ-aminobutyric acid (GABA interneurons mediated inhibition and brain-derived neurotrophic factor (BDNF modulation. rTMS studies as a therapeutic strategy of dystonia have been conducted to modulate the cerebral areas involved in the disease. Especially, when applied on the contralateral (pre-motor cortex or supplementary motor area of brains of small cohorts of dystonic patients, rTMS has shown a beneficial transient clinical effect in association with restrained motor cortex excitability. TMS is currently a

  11. Alteration in forward model prediction of sensory outcome of motor action in Focal Hand Dystonia

    Directory of Open Access Journals (Sweden)

    André eLee

    2013-07-01

    Full Text Available Focal hand dystonia in musicians is a movement disorder affecting highly trained movements. Rather than being a pure motor disorder related to movement execution only, movement planning, error prediction and sensorimotor integration are also impaired. Internal models, of which two types, forward and inverse models have been described and most likely processed in the cerebellum, are known to be involved in these tasks. Recent results indicate that the cerebellum may be involved in the pathophysiology of focal dystonia. Thus the aim of our study was to investigate whether an internal model deficit plays a role in focal dystonia. We focused on the forward model, which predicts sensory consequences of motor commands and allows the discrimination between external sensory input and input deriving from motor action. We investigated 19 patients, aged 19-59 and 19 healthy musicians aged 19-36 as controls. Tactile stimuli were applied to fingers II–V of both hands by the experimenter or the patient. After each stimulus the participant rated the stimulus-intensity on a scale between 0 (no sensation and 1 (maximal intensity. The difference of perceived intensity between self- & externally applied stimuli was then calculated for each finger. For assessing differences between patients and controls we performed a cluster analysis of the affected hand and the corresponding hand of the controls using the fingers II–V as variables in a 4-dimensional hyperspace (chance level=0.5. Using a cluster analysis, we found a correct classification of the affected finger in 78,9%-94.7%. There was no difference between patients and healthy controls of the absolute value of the perceived stimulus intensity. Our results suggest an altered forward model function in focal hand dystonia. It has the potential of suggesting a neural correlate within the cerebellum and of helping integrate findings with regard to altered sensorimotor processing and altered prediction in FD in a

  12. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

    Science.gov (United States)

    Zech, Michael; Jech, Robert; Wagner, Matias; Mantel, Tobias; Boesch, Sylvia; Nocker, Michael; Jochim, Angela; Berutti, Riccardo; Havránková, Petra; Fečíková, Anna; Kemlink, David; Roth, Jan; Strom, Tim M; Poewe, Werner; Růžička, Evžen; Haslinger, Bernhard; Winkelmann, Juliane

    2017-12-01

    Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these disease entities, clinical pattern recognition and conventional genetic workup achieve an etiological diagnosis only in a minority of cases. Our goal was to provide a window into the variable genetic origins and distinct clinical patterns of combined/complex dystonia more broadly. Between August 2016 and January 2017, we applied whole-exome sequencing to a cohort of nine patients with varied combined and/or complex dystonic presentations, being on a diagnostic odyssey. Bioinformatics analyses, co-segregation studies, and sequence-interpretation algorithms were employed to detect causative mutations. Comprehensive clinical review was undertaken to define the phenotypic spectra and optimal management strategies. On average, we observed a delay in diagnosis of 23 years before whole-exome analysis enabled determination of each patient's genetic defect. Whereas mutations in ACTB, ATP1A3, ADCY5, and SGCE were associated with particular phenotypic clues, trait manifestations arising from mutations in PINK1, MRE11A, KMT2B, ATM, and SLC6A1 were different from those previously reported in association with these genes. Apart from improving counseling for our entire cohort, genetic findings had actionable consequences on preventative measures and therapeutic interventions for five patients. Our investigation confirms unique genetic diagnoses, highlights key clinical features and phenotypic expansions, and suggests whole-exome sequencing as a first-tier diagnostic for combined/complex dystonia. These results might stimulate independent teams to extend the scope of agnostic genetic screening to this particular phenotypic group that remains poorly characterized through existing studies.

  13. Dopamine receptor and Gα(olf expression in DYT1 dystonia mouse models during postnatal development.

    Directory of Open Access Journals (Sweden)

    Lin Zhang

    Full Text Available DYT1 dystonia is a heritable, early-onset generalized movement disorder caused by a GAG deletion (ΔGAG in the DYT1 gene. Neuroimaging studies and studies using mouse models suggest that DYT1 dystonia is associated with dopamine imbalance. However, whether dopamine imbalance is key to DYT1 or other forms of dystonia continues to be debated.We used Dyt1 knock out (Dyt1 KO, Dyt1 ΔGAG knock-in (Dyt1 KI, and transgenic mice carrying one copy of the human DYT1 wild type allele (DYT1 hWT or human ΔGAG mutant allele (DYT1 hMT. D1R, D2R, and Gα(olf protein expression was analyzed by western blot in the frontal cortex, caudate-putamen and ventral midbrain in young adult (postnatal day 60; P60 male mice from all four lines; and in the frontal cortex and caudate putamen in juvenile (postnatal day 14; P14 male mice from the Dyt1 KI and KO lines. Dopamine receptor and Gα(olf protein expression were significantly decreased in multiple brain regions of Dyt1 KI and Dyt1 KO mice and not significantly altered in the DYT1 hMT or DYT1 hWT mice at P60. The only significant change at P14 was a decrease in D1R expression in the caudate-putamen of the Dyt1 KO mice.We found significant decreases in key proteins in the dopaminergic system in multiple brain regions of Dyt1 KO and Dyt1 KI mouse lines at P60. Deletion of one copy of the Dyt1 gene (KO mice produced the most pronounced effects. These data offer evidence that impaired dopamine receptor signaling may be an early and significant contributor to DYT1 dystonia pathophysiology.

  14. Severe tardive dystonia on low dose short duration exposure to atypical antipsychotics: Factors explored

    OpenAIRE

    Nilanjan C Chandra; Shabina A Sheth; Ritambhara Y Mehta; Kamlesh R Dave

    2017-01-01

    Tardive dystonia (TD) is a serious side effect of antipsychotic medications, more with typical antipsychotics, that is potentially irreversible in affected patients. Studies show that newer atypical antipsychotics have a lower risk of TD. As a result, many clinicians may have developed a false sense of security when prescribing these medications. We report a case of 20-year-old male with hyperthymic temperament and borderline intellectual functioning, who developed severe TD after low dose sh...

  15. Evaluation of AZD1446 as a Therapeutic in DYT1 Dystonia

    Directory of Open Access Journals (Sweden)

    Chelsea N. Zimmerman

    2017-06-01

    Full Text Available DYT1 dystonia is an early-onset, hyperkinetic movement disorder caused by a deletion in the gene TOR1A, which encodes the protein torsinA. Several lines of evidence show that in animal models of DTY1 dystonia, there is impaired basal dopamine (DA release and enhanced acetylcholine tone. Clinically, anticholinergic drugs are the most effective pharmacological treatment for DYT1 dystonia, but the currently used agents are non-selective muscarinic antagonists and associated with side effects. We used a DYT1 ∆GAG knock-in mouse model (DYT1 KI to investigate whether nicotine and/or a non-desensitizing nicotinic agonist, AZD1446, would increase DA output in DYT1 dystonia. Using in vivo microdialysis, we found that DYT1 KI mice showed significantly increased DA output and greater sensitivity to nicotine compared to wild type (WT littermate controls. In contrast, neither systemic injection (0.25–0.75 mg/kg or intrastriatal infusion (30 μM–1 mM of AZD1446 had a significant effect on DA efflux in WT or DYT1 KI mice. In vitro, we found that AZD1446 had no effect on the membrane properties of striatal spiny projection neurons (SPNs and did not alter the spontaneous firing of ChI interneurons in either WT or DYT1 KI mice. We did observe that the firing frequency of dopaminergic neurons was significantly increased by AZD1446 (10 μM, an effect blocked by dihydro-beta-erythroidine (DHβE 3 μM, but the effect was similar in WT and DYT1 KI mice. Our results support the view that DYT1 models are associated with abnormal striatal cholinergic transmission, and that the DYT1 KI animals have enhanced sensitivity to nicotine. We found little effect of AZD1446 in this model, suggesting that other approaches to nicotinic modulation should be explored.

  16. Focal Dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

    OpenAIRE

    David ePerruchoud; Micah M Murray; Micah M Murray; Jeremie eLefebvre; Silvio eIonta

    2014-01-01

    Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, and the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characteriz...

  17. Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

    OpenAIRE

    Perruchoud David; Murray Micah; Lefebvre Jeremie; Ionta Silvio

    2014-01-01

    Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized b...

  18. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

    Science.gov (United States)

    Blitzer, Andrew; Brin, Mitchell F; Simonyan, Kristina; Ozelius, Laurie J; Frucht, Steven J

    2018-01-01

    Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment. Our studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied. A spectrum of LD phenomena evolved: adductor, abductor, mixed, singer's, dystonic tremor, and adductor respiratory dystonia. Patients were genetically screened for DYT (dystonia) 1, DYT4, DYT6, and DYT25 (GNAL)-and several were positive. The functional MRI studies showed distinct alterations within the sensorimotor network, and the LD patients with a family history had distinct cortical and cerebellar abnormalities. A linear discriminant analysis of fMRI findings showed a 71% accuracy in characterizing LD from normal and in characterizing adductor from abductor forms. Continuous studies of LD patients over 30 years has led to an improved understanding of the phenomenological characteristics of this neurological disorder. Genetic and fMRI studies have better characterized the disorder and raise the possibility of making objective rather than subjective diagnoses, potentially leading to new therapeutic approaches. Laryngoscope, 128:S1-S9, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  19. A Headset Method for Measuring the Visual Temporal Discrimination Threshold in Cervical Dystonia

    Directory of Open Access Journals (Sweden)

    Anna Molloy

    2014-07-01

    Full Text Available Background: The visual temporal discrimination threshold (TDT is the shortest time interval at which one can determine two stimuli to be asynchronous and meets criteria for a valid endophenotype in adult‐onset idiopathic focal dystonia, a poorly penetrant disorder. Temporal discrimination is assessed in the hospital laboratory; in unaffected relatives of multiplex adult‐onset dystonia patients distance from the hospital is a barrier to data acquisition. We devised a portable headset method for visual temporal discrimination determination and our aim was to validate this portable tool against the traditional laboratory‐based method in a group of patients and in a large cohort of healthy controls. Methods: Visual TDTs were examined in two groups 1 in 96 healthy control participants divided by age and gender, and 2 in 33 cervical dystonia patients, using two methods of data acquisition, the traditional table‐top laboratory‐based system, and the novel portable headset method. The order of assessment was randomized in the control group. The results obtained by each technique were compared. Results: Visual temporal discrimination in healthy control participants demonstrated similar age and gender effects by the headset method as found by the table‐top examination. There were no significant differences between visual TDTs obtained using the two methods, both for the control participants and for the cervical dystonia patients. Bland–Altman testing showed good concordance between the two methods in both patients and in controls.Discussion: The portable headset device is a reliable and accurate method for visual temporal discrimination testing for use outside the laboratory, and will facilitate increased TDT data collection outside of the hospital setting. This is of particular importance in multiplex families where data collection in all available members of the pedigree is important for exome sequencing studies.

  20. Quetiapine Induced Acute Dystonia in a patient with History of severe Head Injury

    OpenAIRE

    Robert G. Bota; Joanne W. Witkowski

    2010-01-01

    A patient with a history of severe head injury 10 years ago regained ability to walk after years of being bound to a wheelchair. During the last psychiatric hospitalization, quetiapine was increased to therapeutic dose using a normal titration. As a result the patient developed dystonia of multiple muscle groups requiring 4 days of hospitalization for remittance of symptoms. In this paper, we take a close look at the literature concerning extrapiramidal symptoms (EPS) in this context, and we ...

  1. The endophenotype and the phenotype: temporal discrimination and adult-onset dystonia.

    Science.gov (United States)

    Hutchinson, Michael; Kimmich, Okka; Molloy, Anna; Whelan, Robert; Molloy, Fiona; Lynch, Tim; Healy, Daniel G; Walsh, Cathal; Edwards, Mark J; Ozelius, Laurie; Reilly, Richard B; O'Riordan, Seán

    2013-11-01

    The pathogenesis and the genetic basis of adult-onset primary torsion dystonia remain poorly understood. Because of markedly reduced penetrance in this disorder, a number of endophenotypes have been proposed; many of these may be epiphenomena secondary to disease manifestation. Mediational endophenotypes represent gene expression; the study of trait (endophenotypic) rather than state (phenotypic) characteristics avoids the misattribution of secondary adaptive cerebral changes to pathogenesis. We argue that abnormal temporal discrimination is a mediational endophenotype; its use facilitates examination of the effects of age, gender, and environment on disease penetrance in adult-onset dystonia. Using abnormal temporal discrimination in unaffected first-degree relatives as a marker for gene mutation carriage may inform exome sequencing techniques in families with few affected individuals. We further hypothesize that abnormal temporal discrimination reflects dysfunction in an evolutionarily conserved subcortical-basal ganglia circuit for the detection of salient novel environmental change. The mechanisms of dysfunction in this pathway should be a focus for future research in the pathogenesis of adult-onset primary torsion dystonia. © 2013 International Parkinson and Movement Disorder Society.

  2. A distinct variant of mixed dysarthria reflects parkinsonism and dystonia due to ephedrone abuse.

    Science.gov (United States)

    Rusz, Jan; Megrelishvili, Marika; Bonnet, Cecilia; Okujava, Michael; Brožová, Hana; Khatiashvili, Irine; Sekhniashvili, Madona; Janelidze, Marina; Tolosa, Eduardo; Růžička, Evžen

    2014-06-01

    A distinctive alteration of speech has been reported in patients suffering from ephedrone-induced parkinsonism. However, an objective assessment of dysarthria has not been performed in ephedrone users. We studied 28 young Caucasian men from Georgia with a previous history of ephedrone abuse and compared them to 25 age-matched healthy controls. Speech examination, brain MRI, and NNIPPS-Parkinson plus scale were performed in all patients. The accurate differential diagnosis of dysarthria subtypes was based on the quantitative acoustic analyses of 15 speech dimensions. We revealed a distinct variant of mixed dysarthria with a combination of hyperkinetic and hypokinetic components representing the altered motor programming of dystonia and bradykinesia in ephedrone-induced parkinsonism. According to acoustic analyses, all patients presented at least one affected speech dimension, whereas dysarthria was moderate in 43% and severe in 36% of patients. Further findings indicated relationships between motor subscores of dystonia and bradykinesia and speech components of loudness (r = -0.54, p dysarthria occurs that appears related to marked dystonia and bradykinesia and probably reflects manganese induced toxic and neurodegenerative damage to the globus pallidus internus and substantia nigra.

  3. Powered manipulator control arm

    International Nuclear Information System (INIS)

    Le Mouee, Theodore; Vertut, Jean; Marchal, Paul; Germon, J.C.; Petit, Michel

    1975-01-01

    A remote operated control arm for powered manipulators is described. It includes an assembly allowing several movements with position sensors for each movement. The number of possible arm movements equals the number of possible manipulator movements. The control systems may be interrupted as required. One part of the arm is fitted with a system to lock it with respect to another part of the arm without affecting the other movements, so long as the positions of the manipulator and the arm have not been brought into complete coincidence. With this system the locking can be ended when complete concordance is achieved [fr

  4. Left subclavian artery revascularization as part of thoracic stent grafting

    NARCIS (Netherlands)

    Saouti, N.; Hindori, V.; Morshuis, W.J.; Heijmen, R.H.

    2015-01-01

    OBJECTIVES: Intentional covering of the left subclavian artery (LSA) as part of thoracic endovascular aortic repair (TEVAR) can cause (posterior) strokes or left arm malperfusion. LSA revascularization can be done as prophylaxis against, or as treatment of, these complications. We report our

  5. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.

    Directory of Open Access Journals (Sweden)

    Zuchra Zakirova

    2018-01-01

    Full Text Available Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein-interaction domains, cause dystonia, DYT6. There is a unique, neuronal 50-kDa Thap1-like immunoreactive species, and Thap1 levels are auto-regulated on the mRNA level. However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1 C54Y or ΔExon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum. Enriched pathways and gene ontology terms include eIF2α Signaling, Mitochondrial Dysfunction, Neuron Projection Development, Axonal Guidance Signaling, and Synaptic LongTerm Depression, which are dysregulated in a genotype and tissue-dependent manner. Electrophysiological and neurite outgrowth assays were consistent with those enrichments, and the plasticity defects were partially corrected by salubrinal. Notably, several of these pathways were recently implicated in other forms of inherited dystonia, including DYT1. We conclude that dysfunction of these pathways may represent a point of convergence in the pathophysiology of several forms of inherited dystonia.

  6. Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth.

    Science.gov (United States)

    Watanabe, Natsumi; Itakaoka, Misa; Seki, Yoich; Morimoto, Takako; Homma, Keiichi; Miyamoto, Yuki; Yamauchi, Junji

    2018-01-01

    Dystonia-1 (DYT1) is an autosomal dominant early-onset torsion form of dystonia, a neurological disease affecting movement. DYT1 is the prototypic hereditary dystonia and is caused by the mutation of the tor1a gene. The gene product has chaperone functions important for the control of protein folding and stability. Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia. DYT4 is associated with the mutation of the tubb4a gene, although it remains to be understood how disease-associated mutation affects biochemical as well as cell biological properties of the gene product as the microtubule component (a tubulin beta subunit). Herein we demonstrate that DYT4-associated TUBB4A missense mutants (Arg2-to-Gly or Ala271-to-Thr) form disorganized tubulin networks in cells. Transfected mutants are indeed expressed in cytoplasmic regions, as observed in wild-type transfectants. However, mutant proteins do not exhibit typical radial tubulin networks. Rather, they have diminished ability to interact with tubulin alpha subunits. Processes do not form in sufficient amounts in cells of the N1E-115 neuronal cell line expressing each of these mutants as compared to parental cells. Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin networks and inhibit neuronal process growth, possibly explaining progress through the pathological states at cellular levels. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Mutations in the Na+/K+-ATPase alpha 3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

    NARCIS (Netherlands)

    Aguiar, PD; Sweadner, KJ; Penniston, JT; Zaremba, J; Liu, L; Caton, M; Linazasoro, G; Borg, M; Tijssen, MAJ; Bressman, SB; Dobyns, WB; Brashear, A; Ozelius, LJ

    2004-01-01

    Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. The sudden onset of symptoms over hours to a few weeks,

  8. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

    NARCIS (Netherlands)

    de Carvalho Aguiar, Patricia; Sweadner, Kathleen J.; Penniston, John T.; Zaremba, Jacek; Liu, Liu; Caton, Marsha; Linazasoro, Gurutz; Borg, Michel; Tijssen, Marina A. J.; Bressman, Susan B.; Dobyns, William B.; Brashear, Allison; Ozelius, Laurie J.

    2004-01-01

    Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. The sudden onset of symptoms over hours to a few weeks,

  9. Evolution of robotic arms

    OpenAIRE

    Moran, Michael E.

    2007-01-01

    The foundation of surgical robotics is in the development of the robotic arm. This is a thorough review of the literature on the nature and development of this device with emphasis on surgical applications. We have reviewed the published literature and classified robotic arms by their application: show, industrial application, medical application, etc. There is a definite trend in the manufacture of robotic arms toward more dextrous devices, more degrees-of-freedom, and capabilities beyond th...

  10. Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia

    Directory of Open Access Journals (Sweden)

    Hubert Fernandez

    2013-05-01

    Full Text Available Background: We report the interim results from XCiDaBLE: A large prospective, observational "naturalistic" study evaluating Xeomin® (incobotulinumtoxinA for cervical dystonia or blepharospasm in the United States.Methods: Subjects with CD are followed for 2 treatment cycles and monitored via Interactive Voice/Web Response. Subject-reported scales include the Subject Global Impression-Severity and Improvement; Cervical Dystonia Impact Profile (CDIP-58; and Work Productivity and Quality of Life (QoL are assessed by means of an employment questionnaire and work history and the SF-12v2.Results: This ongoing study includes 145 subjects with a diagnosis of CD. The majority were female (82.3% and White (91.0% and had previously been treated with botulinum toxins (77.2%. There were 106 employed at the time of onset of the disease, but 12.6 years later only 44% were still employed at the time of enrolment into the study and 20% were either receiving or seeking disability benefits. However, only 44% were still employed at the time of recruitment for study participation. The mean total dose/treatment of CD was 225.2 units for the 1st injection. The CDIP-58 total score was significantly improved at four weeks post the first injection compared to baseline (p=<0.0001. Most subjects noted improvement in their global impression assessment. No new or unexpected adverse events occurred. Discussion: The results from these interim analyses confirm previous controlled single-dose studies of incobotulinumtoxinA in terms of efficacy and safety.

  11. ARM Mentor Selection Process

    Energy Technology Data Exchange (ETDEWEB)

    Sisterson, D. L. [Argonne National Lab. (ANL), Argonne, IL (United States)

    2015-10-01

    The Atmospheric Radiation Measurement (ARM) Program was created in 1989 with funding from the U.S. Department of Energy (DOE) to develop several highly instrumented ground stations to study cloud formation processes and their influence on radiative transfer. In 2003, the ARM Program became a national scientific user facility, known as the ARM Climate Research Facility. This scientific infrastructure provides for fixed sites, mobile facilities, an aerial facility, and a data archive available for use by scientists worldwide through the ARM Climate Research Facility—a scientific user facility. The ARM Climate Research Facility currently operates more than 300 instrument systems that provide ground-based observations of the atmospheric column. To keep ARM at the forefront of climate observations, the ARM infrastructure depends heavily on instrument scientists and engineers, also known as lead mentors. Lead mentors must have an excellent understanding of in situ and remote-sensing instrumentation theory and operation and have comprehensive knowledge of critical scale-dependent atmospheric processes. They must also possess the technical and analytical skills to develop new data retrievals that provide innovative approaches for creating research-quality data sets. The ARM Climate Research Facility is seeking the best overall qualified candidate who can fulfill lead mentor requirements in a timely manner.

  12. Security and arms control

    International Nuclear Information System (INIS)

    Kolodziej, E.A.; Morgan, P.M.

    1989-01-01

    This book attempts to clarify and define selected current issues and problems related to security and arms control from an international perspective. The chapters are organized under the following headings. Conflict and the international system, Nuclear deterrence, Conventional warfare, Subconventional conflict, Arms control and crisis management

  13. Altered Sensory Feedbacks in Pianist's Dystonia: the altered auditory feedback paradigm and the glove effect

    Directory of Open Access Journals (Sweden)

    Felicia Pei-Hsin Cheng

    2013-12-01

    Full Text Available Background: This study investigates the effect of altered auditory feedback (AAF in musician's dystonia (MD and discusses whether altered auditory feedback can be considered as a sensory trick in MD. Furthermore, the effect of AAF is compared with altered tactile feedback, which can serve as a sensory trick in several other forms of focal dystonia. Methods: The method is based on scale analysis (Jabusch et al. 2004. Experiment 1 employs synchronization paradigm: 12 MD patients and 25 healthy pianists had to repeatedly play C-major scales in synchrony with a metronome on a MIDI-piano with 3 auditory feedback conditions: 1. normal feedback; 2. no feedback; 3. constant delayed feedback. Experiment 2 employs synchronization-continuation paradigm: 12 MD patients and 12 healthy pianists had to repeatedly play C-major scales in two phases: first in synchrony with a metronome, secondly continue the established tempo without the metronome. There are 4 experimental conditions, among them 3 are the same altered auditory feedback as in Experiment 1 and 1 is related to altered tactile sensory input. The coefficient of variation of inter-onset intervals of the key depressions was calculated to evaluate fine motor control. Results: In both experiments, the healthy controls and the patients behaved very similarly. There is no difference in the regularity of playing between the two groups under any condition, and neither did AAF nor did altered tactile feedback have a beneficial effect on patients’ fine motor control. Conclusions: The results of the two experiments suggest that in the context of our experimental designs, AAF and altered tactile feedback play a minor role in motor coordination in patients with musicians' dystonia. We propose that altered auditory and tactile feedback do not serve as effective sensory tricks and may not temporarily reduce the symptoms of patients suffering from MD in this experimental context.

  14. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression.

    Science.gov (United States)

    Brüggemann, N; Rosales, R L; Waugh, J L; Blood, A J; Domingo, A; Heldmann, M; Jamora, R D; Münchau, A; Münte, T F; Lee, L V; Buchmann, I; Klein, C

    2017-05-01

    X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative adult-onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP. Pre- and post-synaptic dopaminergic function was assessed in XDP. A total of 10 123 jod-benzamide (IBZM) single-photon emission computed tomography (SPECT) images were obtained for nine patients aged 42.3 ± 9.5 years (SD; range 30-52) and one asymptomatic mutation carrier (38 years), and four ioflupane (FP-CIT) SPECT images were obtained for four patients, aged 41.5 ± 11.6 years (range 30-52 years). Structural magnetic resonance imaging was also performed for all mutation carriers and 10 matched healthy controls. All patients were men who suffered from severe, disabling segmental or generalized dystonia and had varying degrees of parkinsonism. IBZM SPECT images were pathological in 8/9 symptomatic patients with distinct reduced post-synaptic tracer uptake in the caudate nucleus and putamen, and unremarkable in the asymptomatic mutation carrier. Longer disease duration was correlated with lower IBZM binding ratios. All subjects exhibited slightly reduced FP-CIT uptake values compared to controls for each analyzed region (-37% to -41%) which may be linked to basal ganglia volume loss. Visual inspection revealed physiological FP-CIT uptake in 1/4 patients. This nuclear imaging study provides evidence that the functional decline of post-synaptic dopaminergic neurotransmission is related to disease duration and ongoing neurodegeneration. Given the severe striatal cell loss which could be verified with post-synaptic nuclear imaging, both parkinsonism and dystonia in XDP are probably mainly due to striatal dysfunction. © 2017 EAN.

  15. Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia

    Directory of Open Access Journals (Sweden)

    Casellato Claudia

    2012-07-01

    Full Text Available Abstract Background Robot-generated deviating forces during multijoint reaching movements have been applied to investigate motor control and to tune neuromotor adaptation. Can the application of force to limbs improve motor learning? In this framework, the response to altered dynamic environments of children affected by primary dystonia has never been studied. Methods As preliminary pilot study, eleven children with primary dystonia and eleven age-matched healthy control subjects were asked to perform upper limb movements, triangle-reaching (three directions and circle-writing, using a haptic robot interacting with ad-hoc developed task-specific visual interfaces. Three dynamic conditions were provided, null additive external force (A, constant disturbing force (B and deactivation of the additive external force again (C. The path length for each trial was computed, from the recorded position data and interaction events. Results The results show that the disturbing force affects significantly the movement outcomes in healthy but not in dystonic subjects, already compromised in the reference condition: the external alteration uncalibrates the healthy sensorimotor system, while the dystonic one is already strongly uncalibrated. The lack of systematic compensation for perturbation effects during B condition is reflected into the absence of after-effects in C condition, which would be the evidence that CNS generates a prediction of the perturbing forces using an internal model of the environment. The most promising finding is that in dystonic population the altered dynamic exposure seems to induce a subsequent improvement, i.e. a beneficial after-effect in terms of optimal path control, compared with the correspondent reference movement outcome. Conclusions The short-time error-enhancing training in dystonia could represent an effective approach for motor performance improvement, since the exposure to controlled dynamic alterations induces a refining

  16. Selective peripheral denervation for cervical dystonia: long-term follow-up.

    Science.gov (United States)

    Bergenheim, A Tommy; Nordh, Erik; Larsson, Eva; Hariz, Marwan I

    2015-12-01

    61 procedures with selective peripheral denervation for cervical dystonia were retrospectively analysed concerning surgical results, pain, quality of life (QoL) and recurrences. The patients were assessed with the Tsui torticollis scale, Visual Analogue Scale (VAS) for pain and Fugl-Meyer scale for QoL. Evaluations were performed preoperatively, early postoperatively, at 6 months, then at a mean of 42 (13-165) months. All patients underwent electromyogram at baseline, which was repeated in cases who presented with recurrence of symptoms after surgery. Six months of follow-up was available for 55 (90%) of the procedures and late follow-up for 34 (56%). The mean score of the Tsui scale was 10 preoperatively. It improved to 4.5 (pFugl-Meyer score for QoL improved from 43.3 to 46.6 (p<0.05) at 6 months, and to 51.1 (p<0.05) at late follow-up. Major reinnervation and/or change in the dystonic pattern occurred following 29% of the procedures, and led in 26% of patients to reoperation with either additional denervation or pallidal stimulation. Selective peripheral denervation remains a surgical option in the treatment of cervical dystonia when conservative measures fail. Although the majority of patients experience a significant relief of symptoms, there is a substantial risk of reinnervation and/or change in the pattern of the cervical dystonia. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  17. Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A

    Directory of Open Access Journals (Sweden)

    Vinod Rai

    2013-01-01

    Full Text Available We report a rare case of neurodegeneration with brain iron accumulation (NBIA presented with episodic inspiratory stridor. A 10-year-old boy presented with 3-year history of gradually progressive spastic gait and generalized dystonia (involving all four limbs, neck, jaw, and speech. MRI brain showed "Eye of Tiger" sign. He recently developed severe inspiratory stridor associated with almost gasping respiration. Direct video laryngoscopy showed paradoxical vocal cord closure during inspiration. He was treated with EMG-guided botulinum toxin-A injection given into bilateral thyroarytenoid muscles, resulting in dramatic response with complete disappearance of the stridor within a week. The effect lasted 18 months.

  18. No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations1

    DEFF Research Database (Denmark)

    Hjermind, L.E.; Vissing, J.; Asmus, F.

    2008-01-01

    homologous and may substitute for one-another in different tissues. We therefore investigated whether mutations in SGCE also cause abnormalities of skeletal and myocardial muscle. Six patients with clinically and genetically verified M-D and no signs of limb-girdle muscular dystrophy were included. Skeletal......Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-, gamma-, and delta can cause autosomal recessive inherited limb girdle muscular dystrophies. epsilon- and alpha-sarcoglycans are very...

  19. Multiple sessions of low-frequency repetitive transcranial magnetic stimulation in focal hand dystonia

    DEFF Research Database (Denmark)

    Kimberley, Teresa Jacobson; Borich, Michael R; Arora, Sanjeev

    2013-01-01

    Purpose: The ability of low-frequency repetitive transcranial magnetic stimulation (rTMS) to enhance intracortical inhibition has motivated its use as a potential therapeutic intervention in focal hand dystonia (FHD). In this preliminary investigation, we assessed the physiologic and behavioral...... effects of multiple sessions of rTMS in FHD. Methods: 12 patients with FHD underwent five daily-sessions of 1 Hz rTMS to contralateral dorsal premotor cortex (dPMC). Patients held a pencil and made movements that did not elicit dystonic symptoms during rTMS. We hypothesized that an active but non...

  20. Speech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus–Dystonia Syndrome

    Directory of Open Access Journals (Sweden)

    Peter Hedera

    2016-07-01

    Full Text Available Background: Acquired neurogenic stuttering has been considered a fairly uncommon clinical occurrence; speech-activated myoclonus is a rare entity that can mimic stuttering and is caused by a wide array of etiologies.Case Report: Here we report a patient with myoclonus–dystonia syndrome (MDS, due to an identified disease-causing mutation, who displayed speech-activated myoclonus mimicking stuttering.Discussion: In MDS, myoclonus has only infrequently been reported to affect speech. This case further expands the spectrum of conditions causing the rare clinical phenomenon of speech-activated myoclonus. 

  1. La extrema izquierda armada colombiana representada en los relatos de ficción de la novela y el cuento, décadas de 1970 y 1990 The Colombian Armed Left-wing Represented in Fictional Narratives of the Novel and the Tale, Decades 1970 and 1990

    Directory of Open Access Journals (Sweden)

    Dairo Correa Gutiérrez

    2010-01-01

    Full Text Available A partir de un ejercicio de lectura comparativa de diez y siete obras literarias colombianas publicadas en las décadas de 1970 y 1980, entre novelas y cuentos, se busca debatir sobre la manera en que fue representada ficcionalmente la extrema izquierda armada en el país. El interés en explorar la narrativa deviene de la creciente importancia de su función testimonial para el análisis de fenómenos sociopolíticos. La literatura, en tanto discurso dotado de múltiples significados, fue durante el periodo estudiado, un arte politizado y un vehículo para la denuncia de asimetrías sociales, capaz de recoger tipos sociales densamente considerados que ilustran la interacción de grupos humanos y el poder político. El artículo pretende aportar a los estudios en torno a las relaciones literatura-política, los cuales en Colombia hoy están ligados a la construcción de la idea de nación, las guerras civiles del siglo XIX, la Violencia de los años 50 del siglo XX y recientemente al narcotráfico.Based on a comparative reading exercise of seventeen Colombian literary works published in the 1970s and 1980s, including novels and short stories, the paper seeks to discuss how was fictionally represented the armed extreme left-wing in the country. The interest in exploring the narrative stems from the growing importance of its testimonial role for the analysis of socio-political phenomena. The Literature, as speech endowed with multiple meanings, was during the period studied a politicized art and a vehicle for the exposure of several social inequalities, capable to gather densely considered social types that illustrate the interaction of human groups and political power. The article seeks to contribute to studies on Literature-Politics relations, which in Colombia today are linked to the construction of the idea of Nation, the Civil Wars of the nineteenth century, the violence of the 50s of the twentieth century and, recently, drug trafficking.

  2. MVACS Robotic Arm

    Science.gov (United States)

    Bonitz, R.; Slostad, J.; Bon, B.; Braun, D.; Brill, R.; Buck, C.; Fleischner, R.; Haldeman, A.; Herman, J.; Hertzel, M.; hide

    2000-01-01

    The primary purpose of the Mars Volatiles and Climate Surveyor (MVACS) Robotic Arm is to support to the other MVACS science instruments by digging trenches in the Martian soil; acquiring and dumping soil samples into the thermal evolved gas analyzer (TEGA); positioning the Soil Temperature Probe (STP) in the soil: positioning the Robotic Arm Air Temperature Sensor (RAATS) at various heights above the surface, and positioning the Robotic Arm Camera (RAC) for taking images of the surface, trench, soil samples, magnetic targets and other objects of scientific interest within its workspace.

  3. Nonspecific Arm Pain

    Directory of Open Access Journals (Sweden)

    Ali Moradi

    2013-12-01

    Full Text Available   Nonspecific activity-related arm pain is characterized by an absence of objective physical findings and symptoms that do not correspond with objective pathophysiology. Arm pain without strict diagnosis is often related to activity, work-related activity in particular, and is often seen in patients with physically demanding work. Psychological factors such as catastrophic thinking, symptoms of depression, and heightened illness concern determine a substantial percentage of the disability associated with puzzling hand and arm pains. Ergonomic modifications can help to control symptoms, but optimal health may require collaborative management incorporating psychosocial and psychological elements of illness.

  4. Nonspecific Arm Pain

    Directory of Open Access Journals (Sweden)

    Ali Moradi

    2013-12-01

    Full Text Available Nonspecific activity-related arm pain is characterized by an absence of objective physical findings and symptoms that do not correspond with objective pathophysiology. Arm pain without strict diagnosis is often related to activity, work-related activity in particular, and is often seen in patients with physically demanding work. Psychological factors such as catastrophic thinking, symptoms of depression, and heightened illness concern determine a substantial percentage of the disability associated with puzzling hand and arm pains. Ergonomic modifications can help to control symptoms, but optimal health may require collaborative management incorporating psychosocial and psychological elements of illness.

  5. Constant-Current Deep Brain Stimulation of the Globus Pallidus Internus in the Treatment of Primary Dystonia by a Novel 8-Contact (Octrode) Lead.

    Science.gov (United States)

    Sakas, Damianos E; Leonardos, Athanassios; Boviatsis, Efstathios; Gatzonis, Stergios; Panourias, Ioannis; Stathis, Pantelis; Stavrinou, Lampis C

    2017-07-01

    To evaluate bilateral constant-current globus pallidus internus (GPi) deep brain stimulation using an 8-contact lead. This prospective, open-label, single-center pilot study of 10 patients assessed the feasibility of delivering bilaterally constant-current GPi deep brain stimulation with a novel 8-channel lead to treat primary dystonia using standard scales as outcome measures. Patients included 4 men and 6 women with a mean age of 35.8 years ± 9.2 (range, 27-49 years). Mean age of onset was 18.5 years ± 9.1 (range, 8-35 years), and mean disease duration was 17.3 years (range, 7-27 years). All had primary dystonia (8 generalized dystonia, 1 segmental dystonia, 1 focal dystonia). The primary variable was determined as 50% reduction in dystonia symptoms from baseline to the 6-month follow-up, as defined by the Burke-Fahn-Marsden Dystonia Rating Scale. Six patients (60.0%) achieved >50% reduction in Burke-Fahn-Marsden Dystonia Rating Scale score and were classified as responders at the 6-month follow-up. Five of these 6 responders (83.3%) sustained that response through the assessment at the end of the first year. Constant-current stimulation was associated with significant improvement in pain and quality of life in all patients. Nearly 84% of the overall improvement occurred by the end of first month after stimulation onset, documenting an early response to treatment. Axial symptoms responded the best. Constant-current GPi deep brain stimulation proved safe and efficacious for treatment of primary dystonia. Motor scores improved by 54%, mostly within the first month. No phenotype-specific stimulation could be achieved, despite the capability of the new lead to stimulate specific loci within the GPi. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Comparing health locus of control in patients with Spasmodic Dysphonia, Functional Dysphonia and Nonlaryngeal Dystonia.

    Science.gov (United States)

    Haselden, Karen; Powell, Theresa; Drinnan, Mike; Carding, Paul

    2009-11-01

    Locus of Control (LoC) refers to an individuals' perception of whether they are in control of life events. Health Locus of Control refers to whether someone feels they have influence over their health. Health Locus of Control has not been studied in any depth in voice-disordered patients. The objective of this study was to examine Health Locus of Control in three patient groups: (1) Spasmodic Dysphonia, (2) Functional Dysphonia and (3) a nondysphonic group with Nonlaryngeal Dystonia. LoC was measured and compared in a total of 57 patients using the Multidimensional Health Locus of Control Scales (diagnostic specific) Form C. Internal, Chance, and Powerful others LoC were measured and comparisons were made using one-way analysis of variance. Contrary to expectations Internal LoC was found to be significantly higher in the Functional Dysphonia group when compared to the other two groups. There was no significant difference between the groups in Chance or Powerful others LoC. The two organic groups, Spasmodic Dysphonia and Nonlaryngeal Dystonia, were more alike in Internal Health Locus of Control than the Functional Dysphonia group. The diagnostic nature of the groups was reflected in their LoC scores rather than their voice loss. These results contribute to the debate about the etiology of Spasmodic Dysphonia and will be of interest to those involved in the psychology of voice and those managing voice-disordered patients.

  7. The DYT6 Dystonia Protein THAP1 Regulates Myelination within the Oligodendrocyte Lineage.

    Science.gov (United States)

    Yellajoshyula, Dhananjay; Liang, Chun-Chi; Pappas, Samuel S; Penati, Silvia; Yang, Angela; Mecano, Rodan; Kumaran, Ravindran; Jou, Stephanie; Cookson, Mark R; Dauer, William T

    2017-07-10

    The childhood-onset motor disorder DYT6 dystonia is caused by loss-of-function mutations in the transcription factor THAP1, but the neurodevelopmental processes in which THAP1 participates are unknown. We find that THAP1 is essential for the timing of myelination initiation during CNS maturation. Conditional deletion of THAP1 in the CNS retards maturation of the oligodendrocyte (OL) lineage, delaying myelination and causing persistent motor deficits. The CNS myelination defect results from a cell-autonomous requirement for THAP1 in the OL lineage and is recapitulated in developmental assays performed on OL progenitor cells purified from Thap1 null mice. Loss of THAP1 function disrupts a core set of OL maturation genes and reduces the DNA occupancy of YY1, a transcription factor required for OL maturation. These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Ataxia with Parkinsonism and dystonia after intentional inhalation of liquefied petroleum gas

    Directory of Open Access Journals (Sweden)

    Godani M

    2015-05-01

    Full Text Available Massimiliano Godani,1 Francesca Canavese,1 Sonia Migliorini,2 Massimo Del Sette1 1Neurology Unit, 2Department of Neuroradiology, Sant’Andrea Hospital, La Spezia, Italy Abstract: The practice of inhaling liquefied petroleum gas (LPG to commit suicide is uncommon and almost exclusively a prerogative of the prison population. Numerous cases of sudden deaths caused by intentional propane and/or butane inhalation have been described, but these cases survived and a description of the consequences is very rare. We describe a prisoner who survived after voluntary inhalation of LPG, and who developed ataxia, Parkinsonism, and dystonia. Brain MRI showed bilateral hyperintensity in the basal ganglia and in the cerebellar hemispheres. The clinical evolution and the MRI abnormalities are similar to those described in cases of poisoning by CO where the mechanism of brain injury is related to histotoxic hypoxia. We believe that LPG, considered until now a mixture of gas with low neurotoxic power, may have caused direct toxic damage to the brain, mediated by a mechanism of hypoxia, such as in CO intoxication. Keywords: ataxia, Parkinsonism, dystonia, liquefied petroleum gas

  9. Sensory tricks and brain excitability in cervical dystonia: a transcranial magnetic stimulation study.

    Science.gov (United States)

    Amadio, Stefano; Houdayer, Elise; Bianchi, Francesca; Tesfaghebriel Tekle, Habtom; Urban, Ivan Pietro; Butera, Calogera; Guerriero, Roberta; Cursi, Marco; Leocani, Letizia; Comi, Giancarlo; Del Carro, Ubaldo

    2014-08-01

    Sensory tricks such as touching the face with fingertips often improve cervical dystonia [CD]. This study is to determine whether sensory tricks modulate motor cortex excitability, assessed by paired-pulse transcranial magnetic stimulation [p-pTMS]. Eight patients with rotational CD underwent p-pTMS, at rest and when the sensory trick was applied. To test intracortical inhibition [ICI] and facilitation [ICF], the amplitude ratio between conditioned and unconditioned cortical motor evoked potentials was measured at several interstimulus intervals (ISI 1, 3, 15, and 20 ms) and compared with controls mimicking patients' sensory tricks. At rest, a significant ICF enhancement was found at ISIs 15 through 20 in patients compared with controls, whereas no significant ICI changes were observed. Sensory tricks significantly reduced the abnormal ICF in patients and did not induce any change in controls. In our CD patients, sensory tricks seem to improve dystonia through an inhibitory effect on motor cortex excitability. © 2014 International Parkinson and Movement Disorder Society.

  10. Hypokinesia upon pallidal deep brain stimulation of dystonia: support of a GABAergic mechanism

    Directory of Open Access Journals (Sweden)

    Florian eAmtage

    2013-12-01

    Full Text Available In the past, many studies have documented the beneficial effects of deep brain stimulation (DBS in the globus pallidus internus for treatment of primary segmental or generalized dystonia. Recently however, several reports focused on DBS-induced hypokinesia or freezing of gait as a side effect in these patients. Here we report on two patients suffering from freezing of gait after successful treatment of their dystonic movement disorder with pallidal high frequency stimulation (HFS. Several attempts to reduce the freezing of gait resulted in worsening of the control of dystonia. In one patient levodopa treatment was initialized which was somewhat successful to relieve freezing of gait. We discuss the possible mechanisms of hypokinetic side effects of pallidal DBS which can be explained by the hypothesis of selective GABA release as the mode of action of HFS. Pallidal HFS is also effective in treating idiopathic Parkinson’s disease as a hypokinetic disorder which at first sight seems to be a paradox. In our view, however, the GABAergic hypothesis can explain this and other clinical observations.

  11. Spatial and Temporal High Processing of Visual and Auditory Stimuli in Cervical Dystonia.

    Science.gov (United States)

    Chillemi, Gaetana; Calamuneri, Alessandro; Morgante, Francesca; Terranova, Carmen; Rizzo, Vincenzo; Girlanda, Paolo; Ghilardi, Maria Felice; Quartarone, Angelo

    2017-01-01

    Investigation of spatial and temporal cognitive processing in idiopathic cervical dystonia (CD) by means of specific tasks based on perception in time and space domains of visual and auditory stimuli. Previous psychophysiological studies have investigated temporal and spatial characteristics of neural processing of sensory stimuli (mainly somatosensorial and visual), whereas the definition of such processing at higher cognitive level has not been sufficiently addressed. The impairment of time and space processing is likely driven by basal ganglia dysfunction. However, other cortical and subcortical areas, including cerebellum, may also be involved. We tested 21 subjects with CD and 22 age-matched healthy controls with 4 recognition tasks exploring visuo-spatial, audio-spatial, visuo-temporal, and audio-temporal processing. Dystonic subjects were subdivided in three groups according to the head movement pattern type (lateral: Laterocollis, rotation: Torticollis) as well as the presence of tremor (Tremor). We found significant alteration of spatial processing in Laterocollis subgroup compared to controls, whereas impairment of temporal processing was observed in Torticollis subgroup compared to controls. Our results suggest that dystonia is associated with a dysfunction of temporal and spatial processing for visual and auditory stimuli that could underlie the well-known abnormalities in sequence learning. Moreover, we suggest that different movement pattern type might lead to different dysfunctions at cognitive level within dystonic population.

  12. Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism.

    Science.gov (United States)

    Tronnier, V M; Domingo, A; Moll, C K; Rasche, D; Mohr, C; Rosales, R; Capetian, P; Jamora, R D; Lee, L V; Münchau, A; Diesta, C C; Tadic, V; Klein, C; Brüggemann, N; Moser, A

    2015-08-01

    Invasive techniques such as in-vivo microdialysis provide the opportunity to directly assess neurotransmitter levels in subcortical brain areas. Five male Filipino patients (mean age 42.4, range 34-52 years) with severe X-linked dystonia-parkinsonism underwent bilateral implantation of deep brain leads into the internal part of the globus pallidus (GPi). Intraoperative microdialysis and measurement of gamma aminobutyric acid and glutamate was performed in the GPi in three patients and globus pallidus externus (GPe) in two patients at baseline for 25/30 min and during 25/30 min of high-frequency GPi stimulation. While the gamma-aminobutyric acid concentration increased in the GPi during high frequency stimulation (231 ± 102% in comparison to baseline values), a decrease was observed in the GPe (22 ± 10%). Extracellular glutamate levels largely remained unchanged. Pallidal microdialysis is a promising intraoperative monitoring tool to better understand pathophysiological implications in movement disorders and therapeutic mechanisms of high frequency stimulation. The increased inhibitory tone of GPi neurons and the subsequent thalamic inhibition could be one of the key mechanisms of GPi deep brain stimulation in dystonia. Such a mechanism may explain how competing (dystonic) movements can be suppressed in GPi/thalamic circuits in favour of desired motor programs. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. Neurophysiologic aspects of patients with generalized or multifocal tonic dystonia of reflex sympathetic dystrophy.

    Science.gov (United States)

    van de Beek, Willem-Johan T; Vein, Alla; Hilgevoord, Anthony A J; van Dijk, J Gert; van Hilten, Bob J

    2002-01-01

    Reflex sympathetic dystrophy (RSD) is a syndrome dominated by sensory, autonomic, and motor features of the extremities. In this study, 10 severely affected RSD patients who progressed to multifocal or generalized tonic dystonia underwent H-reflex evaluation, needle electromyography (EMG), polysomnography, somatosensory evoked potentials, and transcranial magnetic stimulation. H-reflex evaluation revealed an impaired vibratory inhibition of the H-reflex and a higher facilitation peak in the recovery curve between 200 to 350 msec. Needle EMG revealed an impaired reciprocal inhibition, and many patients were unable to alter the amount of muscle activity voluntarily. Evaluations of the stretch reflex showed a markedly decreased threshold and abnormal responses to tonic and phasic changes. Polysomnography performed in five patients revealed no abnormal EMG activity during nonrapid eye movement and rapid eye movement sleep, but EEG arousal phenomena provoked abnormally high and brief bursts of surface EMG activity in all registered muscle groups. Somatosensory evoked potentials and transcranial magnetic stimulation were normal. Taken together, the findings in these patients with tonic dystonia of RSD are in accordance with an impairment of inhibitory interneuronal circuits at the level of the brainstem or spinal cord.

  14. Rechargeable or Nonrechargeable Deep Brain Stimulation in Dystonia: A Cost Analysis.

    Science.gov (United States)

    Perez, Jerome; Gonzalez, Victoria; Cif, Laura; Cyprien, Fabienne; Chan-Seng, Emilie; Coubes, Philippe

    2017-04-01

    Deep brain stimulation of the internal Globus Pallidus (GPi DBS) delivered by an implantable neurostimulator (INS) is an established, effective, and safe treatment option for patients with medically refractory primary dystonia. Compared to other DBS targets, the battery life of the INS is substantially shorter due to the higher energy demands required to penetrate the GPi resulting in faster battery depletion and more frequent hospitalizations for INS replacement. We, therefore, performed a cost analysis to compare a rechargeable DBS system, Activa®RC, with nonrechargeable systems, from the perspective of the French public health insurer. To estimate the cost of INS replacement in the nonrechargeable cohort, and costs potentially avoided in the hypothetical Activa ® RC cohort, the medical records of patients who had undergone GPi DBS with a nonrechargeable INS between 1996 and 2010 at a center in France were accessed. Replacement rates were estimated for up to nine years. With Activa ® RC, a total of 315 hospitalizations for replacement procedures would have been avoided over nine years compared with a nonrechargeable INS, resulting in a discounted mean direct medical cost per patient over nine years of €50,119 with a nonrechargeable INS and €33,306 with Activa ® RC, a reduction of 34%. The adoption of a rechargeable instead of a nonrechargeable INS for eligible patients with dystonia may provide substantial savings to the public health insurer in France. © 2017 International Neuromodulation Society.

  15. Sensory feedback - Dependent neural de-orchestration: The effect of altered sensory feedback on Musician's Dystonia.

    Science.gov (United States)

    Cheng, F P-H; Eddy, M-L; Ruiz, M Herrojo; Großbach, M; Altenmüller, E O

    2015-01-01

    Musician's dystonia (MD) is a task-specific movement disorder related to extensive expert music performance training. Similar to other forms of focal dystonia, MD involves sensory deficits and abnormal patterns of sensorimotor integration. The present study investigated the impaired cortical sensorimotor network of pianists who suffer from MD by employing altered auditory and tactile feedback during scale playing with multichannel EEG. 9 healthy professional pianists and 9 professional pianists suffering from right hand MD participated in an experiment that required repeated scale playing on a MIDI piano under altered sensory feedback while EEG was measured. The comparison of EEG data in healthy pianists and pianists suffering from MD revealed a higher degree of inter-regional phase synchronisation between the frontal and parietal regions and between the temporal and central regions in the patient group and in conditions that are relevant to the long-trained auditory-motor coupling (normal auditory feedback and complete deprivation of auditory feedback), but such abnormalities decreased in conditions with delayed auditory feedback and altered tactile feedback. These findings support the hypothesis that the impaired sensorimotor integration of MD patients is specific to the type of overtrained task that the patients were trained for and can be modified with altered sensory feedback.

  16. Lightweight Small Arms Technologies

    National Research Council Canada - National Science Library

    Spiegel, Kori; Shipley, Paul

    2006-01-01

    .... The Lightweight Small Arms Technologies program was established to address this critical issue. The goals of the program prioritize weight reduction over any other characteristic, while balancing the requirements of lethality, reliability, and cost...

  17. Perspectives on Arms Control

    National Research Council Canada - National Science Library

    Wheeler, Michael O; Smith, James M; Segell, Glen M

    2004-01-01

    ...). For the past three years INSS has organized, sponsored, and/or participated in panels addressing arms control and strategic security issues at annual meetings of the International Studies Association (ISA...

  18. Arms Trafficking and Colombia

    National Research Council Canada - National Science Library

    Cragin, Kim; Hoffman, Bruce

    2003-01-01

    ... to traditional definitions of a security threat. For this analysis, the term "small arms" refers to man-portable personal and military weapons, ranging from handguns to assault rifles to surface-to-air missiles (SAMs...

  19. [Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].

    Science.gov (United States)

    Monteiro, Ana; Massano, João; Leão, Miguel; Garrett, Carolina

    2017-04-28

    The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.

  20. An Asian Patient with Myoclonus-Dystonia (DYT11 Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

    Directory of Open Access Journals (Sweden)

    Akinori Uruha

    2014-01-01

    Full Text Available We describe the case of a 42-year-old Japanese woman with childhood-onset myoclonus, dystonia, and psychiatric symptoms, including anxiety, phobia, and exaggerated startle response. The diagnosis was confirmed as myoclonus-dystonia (DYT11 by identifying a mutation in the gene encoding ε-sarcoglycan. Interestingly, while motor-related symptoms in DYT11 generally improve with alcohol ingestion, the patient’s symptoms were exacerbated by alcohol intake. Her severe and medically intractable symptoms were alleviated by bilateral deep brain stimulation of the globus pallidus internus, with myoclonus and dystonia scores showing 70% improvement after the surgery compared to presurgical scores. This is the first report of a genetically confirmed case of DYT11 in Japan. This paper together with other recent reports collectively demonstrates that DYT11 patients are distributed worldwide, including Asia. Thus, a diagnosis of DYT11 should be considered when clinicians encounter a patient with childhood-onset myoclonus and/or dystonia with psychiatric symptoms, regardless of ethnic background.

  1. The intermuscular 3–7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia

    NARCIS (Netherlands)

    Van der Meer, J.N.; Schouten, A.C.; Bour, L.J.; De Vlugt, E.; Van Rootselaar, A.F.; Van der Helm, F.C.T.; Tijssen, M.A.J.

    2010-01-01

    In dystonia, both sensory malfunctioning and an abnormal intermuscular low-frequency drive of 3–7 Hz have been found, although cause and eVect are unknown. It is hypothesized that sensory processing is primarily disturbed and induces this drive. Accordingly, experimenter-controlled sensory input

  2. The intermuscular 3-7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia

    NARCIS (Netherlands)

    van der Meer, J. N.; Schouten, A. C.; Bour, L. J.; de Vlugt, E.; van Rootselaar, A. F.; van der Helm, F. C. T.; Tijssen, M. A. J.

    In dystonia, both sensory malfunctioning and an abnormal intermuscular low-frequency drive of 3-7 Hz have been found, although cause and effect are unknown. It is hypothesized that sensory processing is primarily disturbed and induces this drive. Accordingly, experimenter-controlled sensory input

  3. The intermuscular 3-7 Hz drive is not affected by distal proprioceptive input in myoclonus-dystonia

    NARCIS (Netherlands)

    van der Meer, J.N.; Schouten, A.C.; Bour, L.J.; de Vlugt, E.; van Rootselaar, A.F.; van der Helm, F.C.T.; Tijssen, M.A.J.

    2010-01-01

    In dystonia, both sensory malfunctioning and an abnormal intermuscular low-frequency drive of 3-7 Hz have been found, although cause and effect are unknown. It is hypothesized that sensory processing is primarily disturbed and induces this drive. Accordingly, experimenter-controlled sensory input

  4. Hello to Arms

    Science.gov (United States)

    2005-01-01

    This image highlights the hidden spiral arms (blue) that were discovered around the nearby galaxy NGC 4625 by the ultraviolet eyes of NASA's Galaxy Evolution Explorer. The image is composed of ultraviolet and visible-light data, from the Galaxy Evolution Explorer and the California Institute of Technology's Digitized Sky Survey, respectively. Near-ultraviolet light is colored green; far-ultraviolet light is colored blue; and optical light is colored red. As the image demonstrates, the lengthy spiral arms are nearly invisible when viewed in optical light while bright in ultraviolet. This is because they are bustling with hot, newborn stars that radiate primarily ultraviolet light. The youthful arms are also very long, stretching out to a distance four times the size of the galaxy's core. They are part of the largest ultraviolet galactic disk discovered so far. Located 31 million light-years away in the constellation Canes Venatici, NGC 4625 is the closest galaxy ever seen with such a young halo of arms. It is slightly smaller than our Milky Way, both in size and mass. However, the fact that this galaxy's disk is forming stars very actively suggests that it might evolve into a more massive and mature galaxy resembling our own. The armless companion galaxy seen below NGC 4625 is called NGC 4618. Astronomers do not know why it lacks arms but speculate that it may have triggered the development of arms in NGC 4625.

  5. Epic and ARM : user's guide

    NARCIS (Netherlands)

    H.R. Walters (Pum)

    1997-01-01

    textabstractWe give a brief introduction to Epic and to ARM (they are discussed in more detail elsewhere). We show how to use the Epic compiler and how to execute ARM code. Then we describe ARM's API (application programmer's interface) which allows ARM to be used as a plug-in library. We describe

  6. Effects of cannabinoid CB(1) receptor agonism and antagonism on SKF81297-induced dyskinesia and haloperidol-induced dystonia in Cebus apella monkeys

    DEFF Research Database (Denmark)

    Madsen, Morten V; Peacock, Linda P; Werge, Thomas

    2011-01-01

    Antipsychotic drugs may cause extrapyramidal symptoms (EPS), such as dyskinesia and dystonia. These effects are believed to involve dysfunctional striatal dopamine transmission. Patients with schizophrenia show increased prevalence of cannabis abuse and this has been linked to severity of EPS...

  7. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report.

    Science.gov (United States)

    Moscovich, Mariana; LeDoux, Mark S; Xiao, Jianfeng; Rampon, Garrett L; Vemula, Satya R; Rodriguez, Ramon L; Foote, Kelly D; Okun, Michael S

    2013-07-13

    Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Some cases of primary and neurodegenerative dystonia have been associated with mutations in individual genes critical to the G1-S checkpoint pathway (THAP1, ATM, CIZ1 and TAF1). Secondary dystonia is also a relatively common clinical sign in many neurogenetic disorders. However, the contribution of structural variation in the genome to the etiopathogenesis of dystonia remains largely unexplored. Cytogenetic analyses with the Affymetrix Genome-Wide Human SNP Array 6.0 identified a chromosome 13q34 duplication in a 36 year-old female with global developmental delay, facial dysmorphism, tall stature, breast cancer and dystonia, and her neurologically-normal father. Dystonia improved with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS). Genomic breakpoint analysis, quantitative PCR (qPCR) and leukocyte gene expression were used to characterize the structural variant. The 218,345 bp duplication was found to include ADPRHL1, DCUN1D2, and TMCO3, and a 69 bp fragment from a long terminal repeat (LTR) located within Intron 3 of TFDP1. The 3' breakpoint was located within Exon 1 of a TFDP1 long non-coding RNA (NR_026580.1). In the affected subject and her father, gene expression was higher for all three genes located within the duplication. However, in comparison to her father, mother and neurologically-normal controls, the affected subject also showed marked overexpression (2×) of the transcription factor TFDP1 (NM_007111.4). Whole-exome sequencing identified an SGCE variant (c.1295G > A, p.Ser432His) that could possibly have contributed to the development of dystonia in the proband. No pathogenic mutations were identified in BRCA1 or BRCA2. Overexpression of TFDP1 has been associated with breast cancer and may also be linked to the tall stature, dysmorphism and dystonia seen in our patient.

  8. "ATP1A3" Mutations in Infants: A New Rapid-Onset Dystonia-Parkinsonism Phenotype Characterized by Motor Delay and Ataxia

    Science.gov (United States)

    Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, W. Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie

    2012-01-01

    We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the "ATP1A3" gene. In adults, mutations in "ATP1A3" cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and…

  9. PHENIX Muon Arms

    International Nuclear Information System (INIS)

    Akikawa, H.; Al-Jamel, A.; Archuleta, J.B.; Archuleta, J.R.; Armendariz, R.; Armijo, V.; Awes, T.C.; Baldisseri, A.; Barker, A.B.; Barnes, P.D.; Bassalleck, B.; Batsouli, S.; Behrendt, J.; Bellaiche, F.G.; Bland, A.W.; Bobrek, M.; Boissevain, J.G.; Borel, H.; Brooks, M.L.; Brown, A.W.; Brown, D.S.; Bruner, N.; Cafferty, M.M.; Carey, T.A.; Chai, J.-S.; Chavez, L.L.; Chollet, S.; Choudhury, R.K.; Chung, M.S.; Cianciolo, V.; Clark, D.J.; Cobigo, Y.; Dabrowski, C.M.; Debraine, A.; DeMoss, J.; Dinesh, B.V.; Drachenberg, J.L.; Drapier, O.; Echave, M.A.; Efremenko, Y.V.; En'yo, H.; Fields, D.E.; Fleuret, F.; Fried, J.; Fujisawa, E.; Funahashi, H.; Gadrat, S.; Gastaldi, F.; Gee, T.F.; Glenn, A.; Gogiberidze, G.; Gonin, M.; Gosset, J.; Goto, Y.; Granier de Cassagnac, R.; Hance, R.H.; Hart, G.W.; Hayashi, N.; Held, S.; Hicks, J.S.; Hill, J.C.; Hoade, R.; Hong, B.; Hoover, A.; Horaguchi, T.; Hunter, C.T.; Hurst, D.E.; Ichihara, T.; Imai, K.; Isenhower, L.D.L. Davis; Isenhower, L.D.L. Donald; Ishihara, M.; Jang, W.Y.; Johnson, J.; Jouan, D.; Kamihara, N.; Kamyshkov, Y.; Kang, J.H.; Kapoor, S.S.; Kim, D.J.; Kim, D.-W.; Kim, G.-B.; Kinnison, W.W.; Klinksiek, S.; Kluberg, L.; Kobayashi, H.; Koehler, D.; Kotchenda, L.; Kuberg, C.H.; Kurita, K.; Kweon, M.J.; Kwon, Y.; Kyle, G.S.; LaBounty, J.J.; Lajoie, J.G.; Lee, D.M.; Lee, S.; Leitch, M.J.; Li, Z.; Liu, M.X.; Liu, X.; Liu, Y.; Lockner, E.; Lopez, J.D.; Mao, Y.; Martinez, X.B.; McCain, M.C.; McGaughey, P.L.; Mioduszewski, S.; Mischke, R.E.; Mohanty, A.K.; Montoya, B.C.; Moss, J.M.; Murata, J.; Murray, M.M.; Nagle, J.L.; Nakada, Y.; Newby, J.; Obenshain, F.; Palounek, A.P.T.; Papavassiliou, V.; Pate, S.F.; Plasil, F.; Pope, K.; Qualls, J.M.; Rao, G.; Read, K.F.; Robinson, S.H.; Roche, G.; Romana, A.; Rosnet, P.; Roth, R.; Saito, N.; Sakuma, T.; Sandhoff, W.F.; Sanfratello, L.; Sato, H.D.; Savino, R.; Sekimoto, M.; Shaw, M.R.; Shibata, T.-A.; Sim, K.S.; Skank, H.D.; Smith, D.E.; Smith, G.D.; Sondheim, W.E.; Sorensen, S.; Staley, F.; Stankus, P.W.; Steffens, S.; Stein, E.M.; Stepanov, M.; Stokes, W.; Sugioka, M.; Sun, Z.; Taketani, A.; Taniguchi, E.; Tepe, J.D.; Thornton, G.W.; Tian, W.; Tojo, J.; Torii, H.; Towell, R.S.; Tradeski, J.; Vassent, M.; Velissaris, C.; Villatte, L.; Wan, Y.; Watanabe, Y.; Watkins, L.C.; Whitus, B.R.; Williams, C.; Willis, P.S.; Wong-Swanson, B.G.; Yang, Y.; Yoneyama, S.; Young, G.R.; Zhou, S.

    2003-01-01

    The PHENIX Muon Arms detect muons at rapidities of |y|=(1.2-2.4) with full azimuthal acceptance. Each muon arm must track and identify muons and provide good rejection of pions and kaons (∼10 -3 ). In order to accomplish this we employ a radial field magnetic spectrometer with precision tracking (Muon Tracker) followed by a stack of absorber/low resolution tracking layers (Muon Identifier). The design, construction, testing and expected run parameters of both the muon tracker and the muon identifier are described

  10. Parry-Romberg syndrome with hemimasticatory spasm in pregnancy; A dystonia mimic

    Directory of Open Access Journals (Sweden)

    Akhila Kumar Panda

    2014-01-01

    Full Text Available Parry-Romberg syndrome (PRS with hemimasticatory spasm (HMS is quite an uncommon overlapping phenomenon which very often mimics jaw closing dystonia. A previously healthy 35-year-old female, during her 5 th month of pregnancy started developing intermittent unilateral painful spasms of jaw while conversation, clinching of teeth, or eating, which led to frequent tongue bites. The spasms were worsened during pregnancy. She used to do certain manoeuvre like sensory tricks in form of touching involved side of the face to relieve the symptoms. Apart from this, she developed progressive hemifacial and hemitongue atrophy. Other medical and neurological examinations were normal. Laboratory investigations as well as neuroimaging were noncontributory. The spasm responded to carbamazepine but hemifacial atrophy persists. To our best knowledge, onset and worsening of this syndrome in pregnancy has not been described earlier which might be correlated either with some hormonal imbalance or some unknown mechanisms.

  11. Contributions of positron emission tomography to elucidating the pathogenesis of idiopathic Parkinsonism and dopa responsive dystonia

    International Nuclear Information System (INIS)

    Calne, D.B.; Fuente-Fernandez, R. de la; Kishore, A.

    1996-01-01

    The metabolic mapping of brain activity. using PET, confirms the conventional wisdom of neurophysiology. In studies of pathophysiology, PET has yielded evidence that has generated new hypotheses. Progression of the lesion detectable with fluorodopa, in human subjects exposed to MPTP, raises the possibility of a transient environmental event being a cause of progressive neurodegeneration. Studies with fluorodopa in Idiopathic Parkinsonism indicate that the rate of loss of neurons is faster initially, and then tends to approach the normal age-related decline. In dopa responsive dystonia, the finding of normal fluorodopa PET led to the prediction that the lesion would be functional rather than anatomical; this has been confirmed by the identification of a defect in dopamine synthesis in this disorder. Finally, new PET ligands show promise for future studies designed to unravel the pathogenesis of diseases involving the basal ganglia. (author)

  12. Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study

    Directory of Open Access Journals (Sweden)

    Sara Marceglia

    2017-09-01

    Full Text Available Focal hand dystonia (FHD in musicians is a movement disorder causing abnormal movements and irregularities in playing. Since weak electrical currents applied to the brain induce persistent excitability changes in humans, cathodal tDCS was proposed as a possible non-invasive approach for modulating cortical excitability in patients with FHD. However, the optimal targets and modalities have still to be determined. In this pilot study, we delivered cathodal (2 mA, anodal (2 mA and sham tDCS over the motor areas bilaterally for 20 min daily for five consecutive days in two musicians with FHD. After cathodal tDCS, both patients reported a sensation of general wellness and improved symptoms of FHD. In conclusion, our pilot results suggest that cathodal tDCS delivered bilaterally over motor-premotor (M-PM cortex for 5 consecutive days may be effective in improving symptoms in FHD.

  13. Error monitoring is altered in musician's dystonia: evidence from ERP-based studies.

    Science.gov (United States)

    Strübing, Felix; Herrojo Ruiz, María; Jabusch, Hans Christian; Altenmüller, Eckart

    2012-04-01

    Musician's dystonia (MD) is a task-specific movement disorder characterized by a loss of voluntary motor control in highly trained movements like piano playing. Its underlying pathophysiology is defined by deficient functioning of neural pathways at different levels of the central nervous system. However, a few studies have examined the brain responses associated with executive functions such as error monitoring in MD. We recorded the electroencephalogram (EEG) in professional pianists during the performance of memorized music sequences at fast tempi. Event-related potentials (ERPs) locked to pitch errors were investigated in MD and a control group. In MD patients, significantly larger error-related brain responses before and following errors were observed as compared with healthy pianists. Our results suggest that in MD, the generalized degraded neural activity at all levels of the central nervous system is manifested in specific neural correlates of the executive functions that monitor an overlearned sensorimotor performance. © 2012 New York Academy of Sciences.

  14. [Writer's cramp--focal dystonia or psychogenic movement disorder? A critical literature study].

    Science.gov (United States)

    Zacher, A

    1989-08-01

    For more than 100 years there has been a discussion as to whether writer's cramp is caused by a disease of the central nervous system, or if it is to be considered as a disturbance of psychogenic origin. Whereas before 1982 there seemed to be a lot of evidence for the psychogenic theory many authors now tend to stress the opinion of Sheehy and Marsden who had explained that "writer's cramp" should be seen as a "focal dystonia". This article discusses the statements of Sheehy and Marsden in comparison with other scientific findings regarding the occupational cramps--above all "writer's cramp". It is concluded that there are different therapeutic approaches derived from the respective theory and which are considered to lessen the movement disorder. Scientific literature suggests that psychotherapy or some therapeutic approaches of behaviour therapy are more effectful in mastering this "mysterious" disorder than any pharmacological substance tested upto now.

  15. Quetiapine Induced Acute Dystonia in a patient with History of severe Head Injury

    Directory of Open Access Journals (Sweden)

    Robert G. Bota

    2010-01-01

    Full Text Available A patient with a history of severe head injury 10 years ago regained ability to walk after years of being bound to a wheelchair. During the last psychiatric hospitalization, quetiapine was increased to therapeutic dose using a normal titration. As a result the patient developed dystonia of multiple muscle groups requiring 4 days of hospitalization for remittance of symptoms. In this paper, we take a close look at the literature concerning extrapiramidal symptoms (EPS in this context, and we suggest that in patients with a history of head injury, it is warranted to consider a slower titration of antipsychotic medications, including ones that are considered having a lower risk of EPS such as quetiapine.

  16. Focal task-specific dystonia of the musicians' hand--a practical approach for the clinician.

    Science.gov (United States)

    Frucht, Steven J

    2009-01-01

    NARRATIVE REVIEW: Watching a concert pianist perform a Chopin etude or a violin soloist perform a Paganini caprice, one cannot help but be awed by the miracle of motor control in man. These "athletes of the small muscles" are susceptible, however, to a condition known as focal, task-specific dystonia (FTSD), a disorder of motor control in which the hands that perform these exquisite maneuvers disobey their master's command. Affected patients offer a unique window to investigate motor learning and aberrant cerebral plasticity. Effective treatments including sensory rehabilitation and botulinum toxin injection offer real hope for symptomatic relief and also afford scientists the opportunity to investigate sensorimotor networks in the normal and abnormal state.

  17. Targeted muscle reinnervation and advanced prosthetic arms.

    Science.gov (United States)

    Cheesborough, Jennifer E; Smith, Lauren H; Kuiken, Todd A; Dumanian, Gregory A

    2015-02-01

    Targeted muscle reinnervation (TMR) is a surgical procedure used to improve the control of upper limb prostheses. Residual nerves from the amputated limb are transferred to reinnervate new muscle targets that have otherwise lost their function. These reinnervated muscles then serve as biological amplifiers of the amputated nerve motor signals, allowing for more intuitive control of advanced prosthetic arms. Here the authors provide a review of surgical techniques for TMR in patients with either transhumeral or shoulder disarticulation amputations. They also discuss how TMR may act synergistically with recent advances in prosthetic arm technologies to improve prosthesis controllability. Discussion of TMR and prosthesis control is presented in the context of a 41-year-old man with a left-side shoulder disarticulation and a right-side transhumeral amputation. This patient underwent bilateral TMR surgery and was fit with advanced pattern-recognition myoelectric prostheses.

  18. Left atrial volume index

    DEFF Research Database (Denmark)

    Poulsen, Mikael K; Dahl, Jordi S; Henriksen, Jan Erik

    2013-01-01

    To determine the prognostic importance of left atrial (LA) dilatation in patients with type 2 diabetes (T2DM) and no history of cardiovascular disease.......To determine the prognostic importance of left atrial (LA) dilatation in patients with type 2 diabetes (T2DM) and no history of cardiovascular disease....

  19. Focal hand dystonia: individualized intervention with repeated application of repetitive transcranial magnetic stimulation.

    Science.gov (United States)

    Kimberley, Teresa Jacobson; Borich, Michael R; Schmidt, Rebekah L; Carey, James R; Gillick, Bernadette

    2015-04-01

    To examine for individual factors that may predict response to inhibitory repetitive transcranial magnetic stimulation (rTMS) in focal hand dystonia (FHD); to present the method for determining optimal stimulation to increase inhibition in a given patient; and to examine individual responses to prolonged intervention. Single-subject design to determine optimal parameters to increase inhibition for a given subject and to use the selected parameters once per week for 6 weeks, with 1-week follow-up, to determine response. Clinical research laboratory. A volunteer sample of subjects with FHD (N = 2). One participant had transcranial magnetic stimulation responses indicating impaired inhibition, and the other had responses within normative limits. There were 1200 pulses of 1-Hz rTMS delivered using 4 different stimulation sites/intensity combinations: primary motor cortex at 90% or 110% of resting motor threshold (RMT) and dorsal premotor cortex (PMd) at 90% or 110% of RMT. The parameters producing the greatest within-session increase in cortical silent period (CSP) duration were then used as the intervention. Response variables included handwriting pressure and velocity, subjective symptom rating, CSP, and short latency intracortical inhibition and facilitation. The individual with baseline transcranial magnetic stimulation responses indicating impaired inhibition responded favorably to the repeated intervention, with reduced handwriting force, an increase in the CSP, and subjective report of moderate symptom improvement at 1-week follow-up. The individual with normative baseline responses failed to respond to the intervention. In both subjects, 90% of RMT to the PMd produced the greatest lengthening of the CSP and was used as the intervention. An individualized understanding of neurophysiological measures can be an indicator of responsiveness to inhibitory rTMS in focal dystonia, with further work needed to determine likely responders versus nonresponders. Copyright

  20. Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.

    Science.gov (United States)

    de Gusmão, Claudio M; Fuchs, Tania; Moses, Andrew; Multhaupt-Buell, Trisha; Song, Phillip C; Ozelius, Laurie J; Franco, Ramon A; Sharma, Nutan

    2016-10-01

    Spasmodic dysphonia is a focal dystonia of the larynx with heterogeneous manifestations and association with familial risk factors. There are scarce data to allow precise understanding of etiology and pathophysiology. Screening for dystonia-causing genetic mutations has the potential to allow accurate diagnosis, inform about genotype-phenotype correlations, and allow a better understanding of mechanisms of disease. Cross-sectional study. Tertiary academic medical center. We enrolled patients presenting with spasmodic dysphonia to the voice clinic of our academic medical center. Data included demographics, clinical features, family history, and treatments administered. The following genes with disease-causing mutations previously associated with spasmodic dysphonia were screened: TOR1A (DYT1), TUBB4 (DYT4), and THAP1 (DYT6). Eighty-six patients were recruited, comprising 77% females and 23% males. A definite family history of neurologic disorder was present in 15% (13 of 86). Average age (± standard deviation) of symptom onset was 42.1 ± 15.7 years. Most (99%; 85 of 86) were treated with botulinum toxin, and 12% (11 of 86) received oral medications. Genetic screening was negative in all patients for the GAG deletion in TOR1A (DYT1) and in the 5 exons currently associated with disease-causing mutations in TUBB4 (DYT4). Two patients tested positive for novel/rare variants in THAP1 (DYT6). Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. Clinicians should make use of genetic testing judiciously and in cost-effective ways. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2016.

  1. Occurrence of Dysphagia Following Botulinum Toxin Injection in Parkinsonism-related Cervical Dystonia: A Retrospective Study

    Directory of Open Access Journals (Sweden)

    Addie Patterson

    2016-11-01

    Full Text Available Background: The aim was to compare the occurrence of post-injection dysphagia in parkinsonism-related cervical dystonia (PRCD versus cervical dystonia (CD of other etiologies (non-PRCD. A secondary objective was to explore potential clinical differences between PRCD and non-PRCD and their respective responses to botulinum toxin (BoNT. Methods: A cross-sectional chart review was carried out of patients treated for CD with Onabotulinumtoxin A at the University of Florida. We collected demographic information, dose of BoNT injected, patient-reported presence of dysphagia as a side effect, patient-perceived duration of benefit and efficacy according to the Clinical Global Impression Scale (CGIS. Results: Of the 144 patients included, 24 patients were diagnosed with PRCD and 120 were diagnosed as non-PRCD. Data analysis showed no significant differences in number of weeks of benefit from BoNT (PRCD 9.1±3.7 versus non-PRCD 9.4±3.7 weeks, p = 0.830, BoNT dosage (PRCD 235.0±95.6 versus non-PRCD 263.7±101.3 units, p = 0.181, median CGIS score (median = 2 or “much improved” for both groups, p = 0.88, or the presence of dysphagia after BoNT (PRCD 17% versus non-PRCD 19 %, p = 0.753, n = 132. In a subgroup analysis of the non-PRCD group, patients who experienced dysphagia were older than those who did not (63.9±8.9 years versus 58.1±14.4 years, p = 0.02. Discussion: Despite an increased baseline risk of dysphagia in patients with PRCD, BoNT appears to be equally safe and equally beneficial in PRCD and non-PRCD patients.

  2. Does dystonic muscle activity affect sense of effort in cervical dystonia?

    Directory of Open Access Journals (Sweden)

    Loïc Carment

    Full Text Available Focal dystonia has been associated with deficient processing of sense of effort cues. However, corresponding studies are lacking in cervical dystonia (CD. We hypothesized that dystonic muscle activity would perturb neck force control based on sense of effort cues.Neck extension force control was investigated in 18 CD patients with different clinical features (7 with and 11 without retrocollis and in 19 control subjects. Subjects performed force-matching and force-maintaining tasks at 5% and 20% of maximum voluntary contraction (MVC. Three task conditions were tested: i with visual force feedback, ii without visual feedback (requiring use of sense of effort, iii without visual feedback, but with neck extensor muscle vibration (modifying muscle afferent cues. Trapezius muscle activity was recorded using electromyography (EMG.CD patients did not differ in task performance from healthy subjects when using visual feedback (ANOVA, p>0.7. In contrast, when relying on sense of effort cues (without visual feedback, 5% MVC, force control was impaired in patients without retrocollis (p = 0.006, but not in patients with retrocollis (p>0.2. Compared to controls, muscle vibration without visual feedback significantly affected performance in patients with retrocollis (p<0.001, but not in patients without retrocollis. Extensor EMG during rest, included as covariate in ANOVA, explained these group differences.This study shows that muscle afferent feedback biases sense of effort cues when controlling neck forces in patients with CD. The bias acts on peripheral or central sense of effort cues depending on whether the task involves dystonic muscles. This may explain why patients with retrocollis more accurately matched isometric neck extension forces. This highlights the need to consider clinical features (pattern of dystonic muscles when evaluating sensorimotor integration in CD.

  3. A randomized trial of specialized versus standard neck physiotherapy in cervical dystonia.

    Science.gov (United States)

    Counsell, Carl; Sinclair, Hazel; Fowlie, Jillian; Tyrrell, Elaine; Derry, Natalie; Meager, Peter; Norrie, John; Grosset, Donald

    2016-02-01

    Anecdotal reports suggested that a specialized physiotherapy technique developed in France (the Bleton technique) improved primary cervical dystonia. We evaluated the technique in a randomized trial. A parallel-group, single-blind, two-centre randomized trial compared the specialized outpatient physiotherapy programme given by trained physiotherapists up to once a week for 24 weeks with standard physiotherapy advice for neck problems. Randomization was by a central telephone service. The primary outcome was the change in the total Toronto Western Spasmodic Torticollis Rating (TWSTR) scale, measured before any botulinum injections that were due, between baseline and 24 weeks evaluated by a clinician masked to treatment. Analysis was by intention-to-treat. 110 patients were randomized (55 in each group) with 24 week outcomes available for 84. Most (92%) were receiving botulinum toxin injections. Physiotherapy adherence was good. There was no difference between the groups in the change in TWSTR score over 24 weeks (mean adjusted difference 1.44 [95% CI -3.63, 6.51]) or 52 weeks (mean adjusted difference 2.47 [-2.72, 7.65]) nor in any of the secondary outcome measures (Cervical Dystonia Impact Profile-58, clinician and patient-rated global impression of change, mean botulinum toxin dose). Both groups showed large sustained improvements compared to baseline in the TWSTR, most of which occurred in the first four weeks. There were no major adverse events. Subgroup analysis suggested a centre effect. There was no statistically or clinically significant benefit from the specialized physiotherapy compared to standard neck physiotherapy advice but further trials are warranted. Copyright © 2015 Elsevier Ltd. All rights reserved.

  4. Split-arm swinging: the effect of arm swinging manipulation on interlimb coordination during walking.

    Science.gov (United States)

    Bondi, Moshe; Zeilig, Gabi; Bloch, Ayala; Fasano, Alfonso; Plotnik, Meir

    2017-08-01

    Human locomotion is defined by bilateral coordination of gait (BCG) and shared features with the fore-hindlimb coordination of quadrupeds. The objective of the present study is to explore the influence of arm swinging (AS) on BCG. Sixteen young, healthy individuals (eight women; eight right motor-dominant, eight left-motor dominant) participated. Participants performed 10 walking trials (2 min). In each of the trials AS was unilaterally manipulated (e.g., arm restriction, weight on the wrist), bilaterally manipulated, or not manipulated. The order of trials was random. Walking trials were performed on a treadmill. Gait kinematics were recorded by a motion capture system. Using feedback-controlled belt speed allowed the participants to walk at a self-determined gait speed. Effects of the manipulations were assessed by AS amplitudes and the phase coordination index (PCI), which quantifies the left-right anti-phased stepping pattern. Most of the AS manipulations caused an increase in PCI values (i.e., reduced lower limb coordination). Unilateral AS manipulation had a reciprocal effect on the AS amplitude of the other arm such that, for example, over-swinging of the right arm led to a decrease in the AS amplitude of the left arm. Side of motor dominance was not found to have a significant impact on PCI and AS amplitude. The present findings suggest that lower limb BCG is markedly influenced by the rhythmic AS during walking. It may thus be important for gait rehabilitation programs targeting BCG to take AS into account. NEW & NOTEWORTHY Control mechanisms for four-limb coordination in human locomotion are not fully known. To study the influence of arm swinging (AS) on bilateral coordination of the lower limbs during walking, we introduced a split-AS paradigm in young, healthy adults. AS manipulations caused deterioration in the anti-phased stepping pattern and impacted the AS amplitudes for the contralateral arm, suggesting that lower limb coordination is markedly

  5. Totally robotic single-position 'flip' arm technique for splenic flexure mobilizations and low anterior resections.

    Science.gov (United States)

    Obias, Vincent; Sanchez, Caroline; Nam, Arthur; Montenegro, Grace; Makhoul, Rami

    2011-06-01

    Using the da Vinci robot in low anterior resection (LAR) has not been widely adopted due to limited range of motion of the robotic arms and the need to move the robot during operations. Our technique uses all three arms for both the splenic flexure and the pelvis, but with only one docking position. The robot is placed to the left of the patient. The camera port is 3 cm to the right of the umbilicus. Arm 1 is placed in the RLQ. Arm 2 is placed midepigastric. Arm 3 is placed in the LLQ. Arm 3 starts off on the left side of the robot, on the same side as Arm 1 aimed cephalad. During mobilization of colon and splenic flexure, Arms 2 and 3 help retract the colon while Arm 1 dissects. Our pelvic dissection begins with Arm 3 "flipped" to the right side of the robot and redocked to the same left sided port aimed caudally. The robot does not need to be repositioned and the patient does not need to be moved. The pelvic dissection can now be done in the standard fashion. Our early experience includes four patients: two LARs and two left hemicolectomies. Mean operative time = 347 minutes, docking time = 20 minutes, and robotic surgical time = 195 minutes. Two complications occurred: post-operative ileus and high ostomy output. Mean LOS = 5. The robotic "flip" arm technique allows the surgeon to fully utilize all the robotic arms in LAR, which is unique versus other techniques. Copyright © 2011 John Wiley & Sons, Ltd.

  6. Robotic Arm End Effector

    Science.gov (United States)

    2008-01-01

    Image illustrates the tools on the end of the arm that are used to acquire samples, image the contents of the scoop, and perform science experiments. The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

  7. Arms Trafficking and Colombia

    Science.gov (United States)

    2003-01-01

    chronology of the intensification of violence in the area, see Noche Y Niebla: Panorama De Derechos Humanos Y Violencia Politica En Colombia, Bogotá...Arms, London, UK: Zed Books, 2000, pp. 155–178. Noche Y Niebla: Panorama De Derechos Humanos Y Violencia Politica En Colombia, Bogotá: Cinep & Justicia

  8. Worldwide Report Arms Control

    Science.gov (United States)

    1987-02-04

    totally eliminate medium-range nuclear missiles in Europe, as if they want to incarcerate it forever in a medieval fortress. Third, if given a... astronomical military expenditure, which is once again being increased by 3 percent, is to be devoted to the buildup both of nuclear and conventional arms

  9. JPRS Report, Arms Control

    Science.gov (United States)

    1990-01-23

    nunciature in Panama City, have kidnapped the Cuban ambassador twice, and now they have even assaulted and searched the residence of the Nicaraguan...orators out there who have only seen the armed forces in cinema news- reels. The issue is not one of politics but politicking. For example, we hear

  10. Worldwide Report, Arms Control

    Science.gov (United States)

    1985-12-13

    suppress it wherever the arm of the Pentagon and the CIA has reached, as in Grenada . They have elevated various "contras" and dushmans to the rank of...and others on certain U.S. population groups, primarily those on the margins of society —,drug addicts, homosexuals , the homeless..." -, Zapevalov

  11. Coordination of multiple robot arms

    Science.gov (United States)

    Barker, L. K.; Soloway, D.

    1987-01-01

    Kinematic resolved-rate control from one robot arm is extended to the coordinated control of multiple robot arms in the movement of an object. The structure supports the general movement of one axis system (moving reference frame) with respect to another axis system (control reference frame) by one or more robot arms. The grippers of the robot arms do not have to be parallel or at any pre-disposed positions on the object. For multiarm control, the operator chooses the same moving and control reference frames for each of the robot arms. Consequently, each arm then moves as though it were carrying out the commanded motions by itself.

  12. Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.

    Science.gov (United States)

    Carecchio, Miryam; Picillo, Marina; Valletta, Lorella; Elia, Antonio E; Haack, Tobias B; Cozzolino, Autilia; Vitale, Annalisa; Garavaglia, Barbara; Iuso, Arcangela; Bagella, Caterina F; Pappatà, Sabina; Barone, Paolo; Prokisch, Holger; Romito, Luigi; Tiranti, Valeria

    2017-07-01

    Mutations in PSEN1 are responsible for familial Alzheimer's disease (FAD) inherited as autosomal dominant trait, but also de novo mutations have been rarely reported in sporadic early-onset dementia cases. Parkinsonism in FAD has been mainly described in advanced disease stages. We characterized a patient presenting with early-onset dystonia-parkinsonism later complicated by dementia and myoclonus. Brain MRI showed signs of iron accumulation in the basal ganglia mimicking neurodegeneration with brain iron accumulation (NBIA) as well as fronto-temporal atrophy. Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo.We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history.

  13. Characterization of the porcine TOR1A gene: The first step towards generation of a pig model for dystonia

    DEFF Research Database (Denmark)

    Henriksen, Carina; Madsen, Lone Bruhn; Bendixen, Christian

    2009-01-01

    The TOR1A (also named DYT1) gene encodes a protein, TorsinA, a member of the AAA+ superfamily of ATPases. The AAA+ proteins have diverse functions such as organelle biogenesis, proteosome function, chaperone function, membrane trafficking and microtubule regulation. However, the molecular function...... of TorsinA is still largely unknown. Mutations in the TOR1A gene, primarily a 3-bp (GAG) deletion are associated with early-onset autosomal dominant torsion dystonia. Animal models may help to provide information about the underlying cellular and molecular mechanism of early-onset generalized dystonia....... The close anatomical, physiological, genetic and biochemical resemblance between man and pig suggest that this animal may constitute an excellent model for this disease. This work reports the cloning and analysis of the porcine (Sus scrofa) homologue of TOR1A. Two porcine TOR1A cDNAs were amplified...

  14. Neuropsychological profile of a Filipino gentleman with X-linked dystonia-parkinsonism: a case report of Lubag disease.

    Science.gov (United States)

    Howe, Laura L S; Kellison, Ida L; Fernandez, Hubert H; Okun, Michael S; Bowers, Dawn

    2009-01-01

    X-Linked Dystonia-Parkinsonism (XDP or "Lubag") is a progressive neurodegenerative disorder unique to the Island of Panay in the Philippines. Imaging and autopsy studies have suggested involvement of the caudate and putamen in late stages. Because the clinical presentation of patients with XDP resembles that of patients with Parkinson disease or dystonia, it is reasonable to predict the neuropsychological profile might be similar; however, the neuropsychological profile of a XDP patient has not previously been published. We present the neuropsychological findings of a 67-year-old gentleman with a 10-year history of XDP who presented with parkinsonian and dystonic symptoms. He was evaluated for suitability for deep brain stimulation surgery. Neuropsychological findings demonstrated diffuse impairment involving memory, visuospatial, language, and executive functioning.

  15. Distonia primária e transtorno obsessivo-compulsivo Primary dystonia and obsessive-compulsive disorder

    Directory of Open Access Journals (Sweden)

    Fernando Machado Vilhena Dias

    2007-01-01

    Full Text Available OBJETIVO: Uma maior freqüência de transtorno obsessivo-compulsivo (TOC em pacientes com distonia primária vem sendo relatada na literatura. O objetivo deste trabalho é revisar os estudos que investigaram a associação entre TOC e distonia primária. MÉTODOS: Artigos que correlacionaram ambas as condições, incluindo estudos caso-controle, descritivos, relatos e série de casos, foram selecionados. As bases de dados avaliadas foram Medline e Lilacs. RESULTADOS: Foram encontrados 12 artigos, sendo 8 estudos caso-controle e 4 séries ou relatos de casos. Metade dos estudos caso-controle observou mais sintomas obsessivo-compulsivos nos pacientes com distonia em relação a controles, enquanto a outra metade não. CONCLUSÃO: Os resultados são conflitantes, não sendo possível estabelecer uma conclusão definitiva acerca da associação entre distonia e TOC.OBJECTIVE: Patients with primary dystonia have been reported to have a major incidence of obsessive-compulsive disorder (OCD. The objective of the present work is to review the studies that investigated the association between OCD and primary dystonia. METHODS: Articles that correlated both conditions, including case-control and descriptive studies as well as case-reports and series, were selected. Articles were searched on Medline and Lilacs. RESULTS: Twelve articles were found, and eight were case-control studies. In half of case-control studies, obsessive-compulsive symptoms were more common in patients with dystonia than controls, while in the other half there was no such a difference. CONCLUSION: As the results are controversial, definite conclusion regarding the association between dystonia and OCD cannot be established.

  16. Left heart catheterization

    Science.gov (United States)

    Catheterization - left heart ... to help guide the catheters up into your heart and arteries. Dye (sometimes called "contrast") will be ... in the blood vessels that lead to your heart. The catheter is then moved through the aortic ...

  17. COMPARING PUMA ROBOT ARM WITH THE HUMAN ARM MOVEMENTS; AN ALTERNATIVE ROBOTIC ARM SHOULDER DESIGN

    Directory of Open Access Journals (Sweden)

    Mustafa BOZDEMİR

    1999-02-01

    Full Text Available Using the robotic arms instead of human power becomes increasingly widespread nowadays. Widening of the robotic arms usage field is parallel to improvement of movement capability of it. In this study PUMA Robotic Arm System that is a developed system of the robotic arms was compared with a human arm due to movement. A new joint was added to PUMA Robotic Arm System to have the movements similar to the human shoulder joint. Thus, a shoulder was designed that can make movements through the sides in addition to fore and back movement.

  18. COMPARING PUMA ROBOT ARM WITH THE HUMAN ARM MOVEMENTS; AN ALTERNATIVE ROBOTIC ARM SHOULDER DESIGN

    OpenAIRE

    BOZDEMİR, Mustafa; ADIGÜZEL, Esat

    1999-01-01

    Using the robotic arms instead of human power becomes increasingly widespread nowadays. Widening of the robotic arms usage field is parallel to improvement of movement capability of it. In this study PUMA Robotic Arm System that is a developed system of the robotic arms was compared with a human arm due to movement. A new joint was added to PUMA Robotic Arm System to have the movements similar to the human shoulder joint. Thus, a shoulder was designed that can make movements through the sides...

  19. Modernization of African Armed Forces

    DEFF Research Database (Denmark)

    Mandrup, Thomas

    2015-01-01

    Concept paper framing the debate at the Dakar Forum Workshop on Modernization of Armed forces in Africa.......Concept paper framing the debate at the Dakar Forum Workshop on Modernization of Armed forces in Africa....

  20. Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?

    Science.gov (United States)

    Domingo, Aloysius; Lee, Lillian V; Brüggemann, Norbert; Freimann, Karen; Kaiser, Frank J; Jamora, Roland D G; Rosales, Raymond L; Klein, Christine; Westenberger, Ana

    2014-09-01

    Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines. In a Filipino woman with suspected Parkinson disease, we confirmed the presence of all changes specific for X-linked dystonia-parkinsonism in genomic DNA. Subsequently, we analyzed complementary DNA and evaluated the methylation status of the androgen receptor gene. Owing to extremely skewed (98%:2%) X-chromosome inactivation, the patient expressed almost solely the mutated allele in a disease-specific change, rendering her molecularly comparable with a hemizygously affected man. Skewed X-chromosome inactivation is the likely cause of parkinsonism in this heterozygous mutation carrier. Because women carriers of the genetic changes specific for X-linked dystonia-parkinsonism are common in the Philippines, the epigenetic factor of nonrandom X-chromosome inactivation may contribute to the skewing of the sex prevalence of parkinsonism toward women in this country, warranting further investigation.

  1. Developmental profile of the aberrant dopamine D2 receptor response in striatal cholinergic interneurons in DYT1 dystonia.

    Directory of Open Access Journals (Sweden)

    Giuseppe Sciamanna

    Full Text Available DYT1 dystonia, a severe form of genetically determined human dystonia, exhibits reduced penetrance among carriers and begins usually during adolescence. The reasons for such age dependence and variability remain unclear.We characterized the alterations in D2 dopamine receptor (D2R signalling in striatal cholinergic interneurons at different ages in mice overexpressing human mutant torsinA (hMT. An abnormal excitatory response to the D2R agonist quinpirole was recorded at postnatal day 14, consisting of a membrane depolarization coupled to an increase in spiking frequency, and persisted unchanged at 3 and 9 months in hMT mice, compared to mice expressing wild-type human torsinA and non-transgenic mice. This response was blocked by the D2R antagonist sulpiride and depended upon G-proteins, as it was prevented by intrapipette GDP-β-S. Patch-clamp recordings from dissociated interneurons revealed a significant increase in the Cav2.2-mediated current fraction at all ages examined. Consistently, chelation of intracellular calcium abolished the paradoxical response to quinpirole. Finally, no gross morphological changes were observed during development.These results suggest that an imbalanced striatal dopaminergic/cholinergic signaling occurs early in DYT1 dystonia and persists along development, representing a susceptibility factor for symptom generation.

  2. Understanding the conventional arms trade

    Science.gov (United States)

    Stohl, Rachel

    2017-11-01

    The global conventional arms trade is worth tens of billions of dollars every year and is engaged in by every country in the world. Yet, it is often difficult to control the legal trade in conventional arms and there is a thriving illicit market, willing to arm unscrupulous regimes and nefarious non-state actors. This chapter examines the international conventional arms trade, the range of tools that have been used to control it, and challenges to these international regimes.

  3. How to Take a Picture of A Robotic Arm

    Science.gov (United States)

    2008-01-01

    [figure removed for brevity, see original site] Click on image for animation This movie first shows an artist's animation of NASA's Phoenix Mars Lander snapping a picture of its arm, then transitions to the actual picture of the arm in its stowed configuration, with its biobarrier unpeeled. The arm is still folded up, with its 'elbow' shown at upper left and its scoop at bottom right. The biobarrier is the shiny film seen to the left of the arm in this view. The barrier is an extra precaution to protect Mars from contamination with any bacteria from Earth. While the whole spacecraft was decontaminated through cleaning, filters and heat, the robotic arm was given additional protection because it is the only spacecraft part that will directly touch the ice below the surface of Mars. Before the arm was heated, it was sealed in the biobarrier, which is made of a trademarked film called Tedlar that holds up to baking like a turkey-basting bag. This ensures that any new bacterial spores that might have come about during the final steps before launch, and during the journey to Mars, will not contact the robotic arm. After Phoenix landed, springs were used to pop back the barrier, giving it room to deploy. The arm is scheduled to begin to unlatch on the third Martian day of the mission, or Sol 3 (May 28, 2008). This image was taken on Sol 1 (May 26, 2008) by the spacecraft's Surface Stereo Imager. The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

  4. Microelectromechanical safe arm device

    Science.gov (United States)

    Roesler, Alexander W [Tijeras, NM

    2012-06-05

    Microelectromechanical (MEM) apparatus and methods for operating, for preventing unintentional detonation of energetic components comprising pyrotechnic and explosive materials, such as air bag deployment systems, munitions and pyrotechnics. The MEM apparatus comprises an interrupting member that can be moved to block (interrupt) or complete (uninterrupt) an explosive train that is part of an energetic component. One or more latching members are provided that engage and prevent the movement of the interrupting member, until the one or more latching members are disengaged from the interrupting member. The MEM apparatus can be utilized as a safe and arm device (SAD) and electronic safe and arm device (ESAD) in preventing unintentional detonations. Methods for operating the MEM apparatus include independently applying drive signals to the actuators coupled to the latching members, and an actuator coupled to the interrupting member.

  5. Arm motion coupling during locomotion-like actions: An experimental study and a dynamic model

    Science.gov (United States)

    Shapkova, E.Yu; Terekhov, A.V.; Latash, M.L.

    2010-01-01

    We studied the coordination of arm movements in standing persons who performed an out-of-phase arm-swinging task while stepping in place or while standing. The subjects were instructed to stop one of the arms in response to an auditory signal while trying to keep the rest of the movement pattern unchanged. A significant increase was observed in the amplitude of the arm that continued swinging under both the stepping and standing conditions. This increase was similar between the right and left arms. A dynamic model was developed including two coupled non-linear van der Pol oscillators. We assumed that stopping an arm did not eliminate the coupling but introduced a new constraint. Within the model, superposition of two factors, a command to stop the ongoing movement of one arm and the coupling between the two oscillators, has been able to account for the observed effects. The model makes predictions for future experiments. PMID:21628725

  6. Robotic Arm of Rover 1

    Science.gov (United States)

    2003-01-01

    JPL engineers examine the robotic arm of Mars Exploration Rover 1. The arm is modeled after a human arm, complete with joints, and holds four devices on its end, the Rock Abrasion Tool which can grind into Martian rocks, a microscopic imager, and two spectrometers for elemental and iron-mineral identification.

  7. JPRS Report, Arms Control.

    Science.gov (United States)

    1991-01-30

    to provide housing for over 3,000 homeless families , the document notes. The ban on nuclear tests would end the dangerous rivalry in developing...TASS 14 Jan] 22 ’Nuclear Angle’of Soviet Union’s Breakup Considered [Ye. Shashkov; PRAVDA 21 Jan] 23 UN Experts Discuss Conventional Arms...Soviet soldiers are stationed in Poland currently, together with JPRS-TAC-91-003 30 January 1991 EAST EUROPE back-up personnel and family members this

  8. Liposuction of arm lymphoedema.

    OpenAIRE

    Brorson, Håkan

    2003-01-01

    Breast cancer is the most common disease in women, and up to 38% develop lymphedema of the arm following mastectomy, standard axillary node dissection and postoperative irradiation. Limb reductions have been reported utilising various conservative therapies such as manual lymph and pressure therapy. Some patients with long-standing pronounced lymphedema do not respond to these conservative treatments because slow or absent lymph flow causes the formation of excess subcutaneous adipose tissue....

  9. JPRS Report, Arms Control.

    Science.gov (United States)

    1991-09-03

    produce prosaic kneaders, electric abattoirs , and canning lines that no one was in a hurry to acquire at prices several times higher that those of the...armed struggle between two equal enemies. [Khokhlov] Fine, but what do you have to say about the environmental contamination that would result... contamination then was dozens of times less than what we had at Chernobyl and almost all of it went up into the stratosphere. I believe that our half

  10. Strategic arms limitation

    Science.gov (United States)

    Allen Greb, G.; Johnson, Gerald W.

    1983-10-01

    Following World War II, American scientists and politicians proposed in the Baruch plan a radical solution to the problem of nuclear weapons: to eliminate them forever under the auspices of an international nuclear development authority. The Soviets, who as yet did not possess the bomb, rejected this plan. Another approach suggested by Secretary of War Henry Stimson to negotiate directly with the Soviet Union was not accepted by the American leadership. These initial arms limitation failures both reflected and exacerbated the hostile political relationship of the superpowers in the 1950s and 1960s. Since 1969, the more modest focus of the Soviet-American arms control process has been on limiting the numbers and sizes of both defensive and offensive strategic systems. The format for this effort has been the Strategic Arms Limitatins Talks (Salt) and more recently the Strategic Arms Reduction Talks (START). Both sides came to these negotiations convinced that nuclear arsenals had grown so large that some for of mutual restraint was needed. Although the SALT/START process has been slow and ponderous, it has produced several concrete the agreements and collateral benefits. The 1972 ABM Treaty restricts the deployment of ballistic missile defense systems, the 1972 Interim Agreement places a quantitative freeze on each side's land based and sea based strategic launchers, and the as yet unratified 1979 SALT II Treaty sets numerical limits on all offensive strategic systems and sublimits on MIRVed systems. Collateral benefits include improved verification procedures, working definitions and counting rules, and permanent bureaucratic apparatus which enhance stability and increase the chances for achieving additional agreements.

  11. Kiikuv maja / Anu Arm

    Index Scriptorium Estoniae

    Arm, Anu

    2006-01-01

    Eesti Kunstiakadeemia esimese kursuse arhitektuuriüliõpilaste II semestri töö. Juhendaja arhitekt Andres Alver, ehitamise Pedaspeale organiseeris suvepraktika juhendaja arhitekt Jaan Tiidemann. Autor Anu Arm, kaasa töötasid ja valmis ehitasid: Ott Alver, Maarja Elm, Mari Hunt, Alvin Järving, Marten Kaevats, Riho Kerge, Reedik Poopuu, Anu Põime, Helen Rebane, Kaisa Saarva, Martin Tago, Reet Volt. Valmis: 19. VIII 2006

  12. Phoenix Robotic Arm

    Science.gov (United States)

    2007-01-01

    A vital instrument on NASA's Phoenix Mars Lander is the robotic arm, which will dig into the icy soil and bring samples back to the science deck of the spacecraft for analysis. In September 2006 at a Lockheed Martin Space Systems clean room facility near Denver, spacecraft technician Billy Jones inspects the arm during the assembly phase of the mission. Using the robotic arm -- built by the Jet Propulsion Laboratory, Pasadena -- the Phoenix mission will study the history of water and search for complex organic molecules in the ice-rich soil. The Phoenix mission is led by Principal Investigator Peter H. Smith of the University of Arizona, Tucson, with project management at NASA's Jet Propulsion Laboratory and development partnership with Lockheed Martin Space Systems. International contributions for Phoenix are provided by the Canadian Space Agency, the University of Neuchatel (Switzerland), the University of Copenhagen, and the Max Planck Institute in Germany. JPL is a division of the California Institute of Technology in Pasadena.

  13. Striving for more good days: patient perspectives on botulinum toxin for the treatment of cervical dystonia

    Directory of Open Access Journals (Sweden)

    Poliziani M

    2016-08-01

    Full Text Available Michele Poliziani,1 Marco Koch,2 Xierong Liu1 1Opinion Health, London, UK; 2Merz Pharmaceuticals GmbH, Frankfurt am Main, Germany Background: The recommended reinjection interval for botulinum neurotoxin (BoNT formulations in the treatment of cervical dystonia (CD is generally ≥12 weeks, though intervals ≥10 weeks are approved for incobotulinumtoxinA in Europe. However, recurring symptoms can occur before the end of this period. Using qualitative research, we sought a greater understanding of disease burden, unmet patient needs, and barriers to treatment. Methods: We conducted online semistructured, focus-group discussions, and online forum follow-up discussions among patients with CD, focusing on disease burden, patient needs, injection cycle preferences, and relationships with health care professionals. A subset of patients was also questioned in telephone interviews about individual experiences of CD and BoNT treatment. All participants were UK residents who had received onabotulinumtoxinA or abobotulinumtoxinA for CD for ≥1 year. Results: Thirty-one patients (81% female; mean duration of CD 16.4 [range 4–31] years; mean BoNT injection cycle length 12.8 weeks participated in the online focus-group and forum follow-up discussions. Of these, seven patients participated in telephone interviews. All had recurring symptoms between treatments, which substantially impacted on their work, family, and social life. Symptom severity fluctuated throughout an injection cycle and differed between patients and across injection cycles. Participants’ relationships with health care professionals and treatment satisfaction varied greatly. Many participants wanted longer-lasting and/or more stable symptom relief with shorter and/or more flexible injection intervals, according to individual needs. Lack of health care resources, long journeys to treatment centers, and immunogenicity/side-effect concerns were perceived as the main barriers to more

  14. [Recurrent left atrial myxoma].

    Science.gov (United States)

    Moreno Martínez, Francisco L; Lagomasino Hidalgo, Alvaro; Mirabal Rodríguez, Roger; López Bermúdez, Félix H; López Bernal, Omaida J

    2003-01-01

    Primary cardiac tumors are rare. Mixomas are the most common among them; 75% are located in the left atrium, 20% in the right atrium, and the rest in the ventricles. The seldom appear in atrio-ventricular valves. Recidivant mixoma are also rare, appearing in 1-5% of all patients that have undergone surgical treatment of a mixoma. In this paper we present our experience with a female patient, who 8 years after having been operated of a left atrial mixoma, began with symptoms of mild heart failure. Transthoracic echocardiography revealed recurrence of the tumor, and was therefore subjected to a second open-heart surgery from which she recovered without complications.

  15. Clinical, Etiological and Therapeutic Features of Jaw-opening and Jaw-closing Oromandibular Dystonias: A Decade of Experience at a Single Treatment Center

    Directory of Open Access Journals (Sweden)

    Pedro Gonzalez-Alegre

    2014-04-01

    Full Text Available Background: Dystonia is a heterogeneous hyperkinetic disorder. The anatomical location of the dystonia helps clinicians guide their evaluation and treatment plan. When dystonia involves masticatory, lingual, and pharyngeal muscles, it is referred to as oromandibular dystonia (OMD.Methods: We identified patients diagnosed with OMD in a Movement Disorders Clinic and Laryngeal Movement Disorders Clinic from a single institution. Demographic, etiological, clinical, and therapeutic information was retrospectively reviewed for patients with jaw‐opening (O‐OMD and jaw‐closing (C‐OMD OMD.Results: Twenty‐seven patients were included. Their average age of onset was in the sixth decade of life and there was a female predominance. Etiological factors linked in this study to OMD included a family history of dystonia or essential tremor, occupation, cerebellar disease, a dental disorder, and tardive syndrome. Clinically, patients with C‐OMD presented with more prominent feeding difficulties, but seemed to respond better to therapy than those with O‐OMD. In addition to the known benefits of botulinum toxin therapy, patients who described sensory tricks obtained benefit from the use of customized dental prosthesis.Discussion: This works provides useful information on potential etiological factors for OMD and its response to therapy, and highlights the potential benefit of dental prosthesis for the treatment of OMD.

  16. The International Classification of Functioning (ICF) to evaluate deep brain stimulation neuromodulation in childhood dystonia-hyperkinesia informs future clinical & research priorities in a multidisciplinary model of care.

    Science.gov (United States)

    Gimeno, Hortensia; Lin, Jean-Pierre

    2017-01-01

    The multidisciplinary team (MDT) approach illustrates how motor classification systems, assessments and outcome measures currently available have been applied to a national cohort of children and young people with dystonia and other hyperkinetic movement disorders (HMD) particularly with a focus on dyskinetic cerebral palsy (CP). The paper is divided in 3 sections. Firstly, we describe the service model adopted by the Complex Motor Disorders Service (CMDS) at Evelina London Children's Hospital and King's College Hospital (ELCH-KCH) for deep brain stimulation. We describe lessons learnt from available dystonia studies and discuss/propose ways to measure DBS and other dystonia-related intervention outcomes. We aim to report on current available functional outcome measures as well as some impairment-based assessments that can encourage and generate discussion among movement disorders specialists of different backgrounds regarding choice of the most important areas to be measured after DBS and other interventions for dystonia management. Finally, some recommendations for multi-centre collaboration in regards to functional clinical outcomes and research methodologies for dystonia-related interventions are proposed. Crown Copyright © 2016. Published by Elsevier Ltd. All rights reserved.

  17. AES i ARM procesori

    Directory of Open Access Journals (Sweden)

    Danijela D. Protić

    2013-12-01

    Full Text Available Potreba za zaštitom informacija dovodi do velikih problema u izradi prenosivih uređaja kojima su limitirani snaga, memorija i energija. Ukoliko se takvim uređajima dodaju koprocesori, koji treba da obavljaju funkcije kriptozaštite, njihove se dimenzije povećavaju, pojavljuje se nefleksibilnost pa cena uređaja raste i do nekoliko puta. Na drugoj strani, algoritmi za zaštitu podataka su često memorijski zahtevni, a zbog velikog broja operacija koje je potrebno izvršavati u procesima šifrovanja i dešifrovanja, koprocesori često uspore rad osnovnog procesora. Za jedan od standarda za kriptozaštitu, AES, NIST je prihvatio Rijndaelov blokovski algoritam sa dužinom ulaznog i izlaznog bloka od 128 b, i dužinama šifarskog ključa od 128 b, 192 b i 256 b. Zbog karakteristika male potrošnje, 32-bitske arhitekture i brzog izvršavanja instrukcija, ARM procesori mogu da realizuju kriptozaštitu podataka, između ostalog i AES-om, a da ne opterete glavne procese u sistemima u kojima se koriste. Tehnologija ARM-a zaštićena je kao intelektualna svojina, pa je veliki broj proizvođača koristi za razvoj sopstvenih proizvoda, što je rezultovalo činjenicom da je u svetu proizvedeno preko 2 milijarde čipova koji su bazirani na ovoj tehnologiji. U radu su prikazane mogućnosti za poboljšanja u izvršenju algoritma AES primenom najnovijih verzija ARM procesora.

  18. Phoenix Robotic Arm Rasp

    Science.gov (United States)

    2008-01-01

    This photograph shows the rasp protruding from the back of the scoop on NASA's Phoenix Mars Lander's Robotic Arm engineering model in the Payload Interoperability Testbed at the University of Arizona, Tucson. This is the position the rasp will assume when it drills into the Martian soil to acquire an icy soil sample for analysis. The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is led by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

  19. Disarmament and arms control

    International Nuclear Information System (INIS)

    Elzen, B.

    1979-01-01

    This report discusses how far science and technology can provide methods of making arms control and disarmament agreements more controlable in an objective way. Two case studies have been considered, the test ban treaty and the verification of the number of strategic nuclear weapons. These lead to the conclusion that both science and politics are closely interwoven and that within what appear to be scientific arguments, political positions are being defended. Consequently scientists and technologists and the contexts in which they work, play a prominent role. (C.F.)

  20. Placement of the Left Side AED Pad is Poor: Training on the Left Compared to the Right Side of a Manikin Does Not Improve Pad Placement

    DEFF Research Database (Denmark)

    Stærk, Mathilde; Bødtker, Henrik; Rahbek, Søren

    2015-01-01

    participating in a first aid course were randomized to learn automated external defibrillation sitting on the left or right side of a manikin during AED training. After course completion participants operated a training AED (Lifepak® CR-T AED Trainer, PhysioControl) and placed AED pads according to instructions...... to reach the left mid-axillary line. In addition, the left arm of the victim may hamper access to the left lateral side of the thorax.Hypothesis: Training automated external defibrillation sitting on the left side of a manikin improves AED pad placement compared to sitting to the right.Methods: Laypeople...... from the AED. Pads were placed on an anatomically realistic male resuscitation torso with arms (AMBU® Man, AMBU). Participants were instructed to sit on the same side of the manikin as trained. The distance from the center of AED pads to the recommended pad position was measured.Results: In total, 30...

  1. Controller arm for a remotely related slave arm

    Science.gov (United States)

    Salisbury, J. K., Jr. (Inventor)

    1979-01-01

    A segmented controller arm configured and dimensioned to form a miniature kinematic replica of a remotely related slave arm is disclosed. The arm includes: (1) a plurality of joints for affording segments of the arm simultaneous angular displacement about a plurality of pairs of intersecting axes, (2) a plurality of position sensing devices for providing electrical signals indicative of angular displacement imparted to corresponding segments of the controller shaft about the axes, and (3) a control signal circuit for generating control signals to be transmitted to the slave arm. The arm is characterized by a plurality of yokes, each being supported for angular displacement about a pair of orthogonally related axes and counterbalanced against gravitation by a cantilevered mass.

  2. Imaging insights into basal ganglia function, Parkinson’s disease, and dystonia

    Science.gov (United States)

    Stoessl, A. Jon; Lehericy, Stephane; Strafella, Antonio P.

    2015-01-01

    Recent advances in structural and functional imaging have greatly improved our ability to assess normal functions of the basal ganglia, diagnose parkinsonian syndromes, understand the pathophysiology of parkinsonism and other movement disorders, and detect and monitor disease progression. Radionuclide imaging is the best way to detect and monitor dopamine deficiency, and will probably continue to be the best biomarker for assessment of the effects of disease-modifying therapies. However, advances in magnetic resonance enable the separation of patients with Parkinson’s disease from healthy controls, and show great promise for differentiation between Parkinson’s disease and other akinetic-rigid syndromes. Radionuclide imaging is useful to show the dopaminergic basis for both motor and behavioural complications of Parkinson’s disease and its treatment, and alterations in non-dopaminergic systems. Both PET and MRI can be used to study patterns of functional connectivity in the brain, which is disrupted in Parkinson’s disease and in association with its complications, and in other basal-ganglia disorders such as dystonia, in which an anatomical substrate is not otherwise apparent. Functional imaging is increasingly used to assess underlying pathological processes such as neuroinflammation and abnormal protein deposition. This imaging is another promising approach to assess the effects of treatments designed to slow disease progression. PMID:24954673

  3. A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

    Science.gov (United States)

    Nicolas, Gaël; Jacquin, Agnès; Thauvin-Robinet, Christel; Rovelet-Lecrux, Anne; Rouaud, Olivier; Pottier, Cyril; Aubriot-Lorton, Marie-Hélène; Rousseau, Stéphane; Wallon, David; Duvillard, Christian; Béjot, Yannick; Frébourg, Thierry; Giroud, Maurice; Campion, Dominique; Hannequin, Didier

    2014-10-01

    Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families with autosomal dominant inheritance, three causative genes have been identified: SLC20A2, PDGFRB, and, very recently, PDGFB. Whereas in clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrence are rare. We report the case of a 20-year-old woman who presented laryngeal dystonia revealing IBGC. Her healthy parents' CT scans were both normal. We identified in the proband a new nonsense mutation in exon 4 of PDGFB, c.439C>T (p.Gln147*), which was absent from the parents' DNA. This mutation may result in a loss-of-function of PDGF-B, which has been shown to cause IBGC in humans and to disrupt the blood-brain barrier in mice, resulting in brain calcification. The c.439C>T mutation is located between two previously reported nonsense mutations, c.433C>T (p.Gln145*) and c.445C>T (p.Arg149*), on a region that could be a hot spot for de novo mutations. We present the first full demonstration of the de novo occurrence of an IBGC-causative mutation in a sporadic case.

  4. Modulation of the disturbed motor network in dystonia by multisession suppression of premotor cortex.

    Directory of Open Access Journals (Sweden)

    Ying-Zu Huang

    Full Text Available Daily sessions of therapeutic transcranial brain stimulation are thought to prolong or amplify the effect of a single intervention. Here we show in patients with focal hand dystonia that additional, new effects build up progressively over time, making it difficult to predict the effect of long term interventions from shorter treatment sessions. In a sham-controlled study, real or sham continuous theta burst stimulation (cTBS was given once daily for five consecutive days to dorsolateral premotor cortex (PMd. Five days of real, but not sham, premotor cTBS improved intracortical inhibition in primary motor cortex (M1 to a similar extent on day 1 and day 5. However 5 days of cTBS were required to restore the abnormal PMd-M1 interactions observed on day 1. Similarly, excessive M1 plasticity seen at baseline was also significantly reduced by five days of real premotor cTBS. There was only a marginal benefit on writing. The results show that additional, new effects, at sites distant from the point of stimulation, build up progressively over time, making it difficult to predict the effect of long term interventions from shorter treatment sessions. The results indicate that it may take many days of therapeutic intervention to rebalance activity in a complex network.

  5. Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE)

    Science.gov (United States)

    Perruchoud, David; Murray, Micah M.; Lefebvre, Jeremie; Ionta, Silvio

    2014-01-01

    Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic–functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE). Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration. PMID:24999327

  6. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

    Directory of Open Access Journals (Sweden)

    Anne J. Blood

    2018-01-01

    Full Text Available Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment. However, little is known about how this relates to pathogenesis and pathophysiology. While MRI cannot visualize these striatal compartments directly in humans, differences in relative gradients of afferent cortical connectivity across compartments (weighted toward paralimbic versus sensorimotor cortex, respectively can be used to infer potential selective loss in vivo. In the current study we evaluated relative connectivity of paralimbic versus sensorimotor cortex with the caudate and putamen in 17 individuals with XDP and 17 matched controls. Although caudate and putamen volumes were reduced in XDP, there were no significant reductions in either “matrix-weighted”, or “striosome-weighted” connectivity. In fact, paralimbic connectivity with the putamen was elevated, rather than reduced, in XDP. This was driven most strongly by elevated putamen connectivity with the anterior insula. There was no relationship of these findings to disease duration or striatal volume, suggesting insula and/or paralimbic connectivity in XDP may develop abnormally and/or increase in the years before symptom onset.

  7. Botulinum toxin type A and cervical dystonia: a seven-year follow-up

    Directory of Open Access Journals (Sweden)

    Carlos Henrique F. Camargo

    2011-10-01

    Full Text Available Most cases of cervical dystonia (CD are idiopathic, and focal injections of botulinum toxin A (BoNT/A are the treatment of choice. The objective of our study was to document the effects of long-term BoNT/A treatment in idiopathic CD patients. Fifty-eight patients with idiopathic CD were recruited from March 2001 to May 2002. Twenty-eight of the subjects were available for reassessment after seven years. During this period, all had received regular treatment with BoNT/A injections. Clinical information about patients and the severity of CD (TWSTRS and VAPS at baseline assessment (2001-2002 and follow-up (2008-2009 was compared. Significant motor improvement was detected based on TWSTRS scale scores, which were used to analyze clinical severity (19.6±6.6 and 17.7±4.8; p<0.05. There was no improvement in the severity of cervical pain (p=0.43. In conclusion, BoNT/A was a safe and effective long-term therapy for CD.

  8. Focal Dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE

    Directory of Open Access Journals (Sweden)

    David ePerruchoud

    2014-06-01

    Full Text Available Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, and the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic-functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE. Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration.

  9. Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE).

    Science.gov (United States)

    Perruchoud, David; Murray, Micah M; Lefebvre, Jeremie; Ionta, Silvio

    2014-01-01

    Performing accurate movements requires preparation, execution, and monitoring mechanisms. The first two are coded by the motor system, the latter by the sensory system. To provide an adaptive neural basis to overt behaviors, motor and sensory information has to be properly integrated in a reciprocal feedback loop. Abnormalities in this sensory-motor loop are involved in movement disorders such as focal dystonia, a hyperkinetic alteration affecting only a specific body part and characterized by sensory and motor deficits in the absence of basic motor impairments. Despite the fundamental impact of sensory-motor integration mechanisms on daily life, the general principles of healthy and pathological anatomic-functional organization of sensory-motor integration remain to be clarified. Based on the available data from experimental psychology, neurophysiology, and neuroimaging, we propose a bio-computational model of sensory-motor integration: the Sensory-Motor Integrative Loop for Enacting (SMILE). Aiming at direct therapeutic implementations and with the final target of implementing novel intervention protocols for motor rehabilitation, our main goal is to provide the information necessary for further validating the SMILE model. By translating neuroscientific hypotheses into empirical investigations and clinically relevant questions, the prediction based on the SMILE model can be further extended to other pathological conditions characterized by impaired sensory-motor integration.

  10. Acetylcholinesterase activity in the brain of dystonia musculorum (Dst(dt-J)) mutant mice.

    Science.gov (United States)

    Clément, C; Lalonde, R; Strazielle, C

    2012-01-01

    The dystonia musculorum (Dst(dt-J)) mutant mouse suffers from severe motor coordination deficits, characterized, among various symptoms, by a spastic ataxia and dystonic movements, indicating central defects in motor structures in addition to dystrophy of peripheral sensory tracts and partial degeneration of spinocerebellar tracts. Neurochemical alterations, notably in dopaminergic and noradrenergic systems, were previously observed in basal ganglia and cerebellum. A quantitative histochemical cartography of brain acetylcholinesterase activity in Dst(dt-J) mutants, in comparison with controls, revealed increases in the neostriatum, the habenula-interpeduncular pathway, the cholinergic pedunculopontine nucleus and its target structures, the thalamus, major regions of the basal ganglia, such as substantia nigra, ventral tegmental area, globus pallidum, and subthalamic nucleus, as well as in associated extrapyramidal regions, such as red nucleus, brainstem reticular formation, and superior colliculus. These acetylcholinesterase changes may play a role in motor deficits, particularly the dystonic symptomatology observed in the mutation. Copyright © 2011 Elsevier Ireland Ltd and the Japan Neuroscience Society. All rights reserved.

  11. Neuronal activity patterns in the ventral thalamus: Comparison between Parkinson's disease and cervical dystonia.

    Science.gov (United States)

    Devetiarov, Dmitriy; Semenova, Ulia; Usova, Svetlana; Tomskiy, Alexey; Tyurnikov, Vladimir; Nizametdinova, Dinara; Gushcha, Artem; Belova, Elena; Sedov, Alexey

    2017-12-01

    The aim of this study was to distinguish neuronal activity patterns in the human ventral thalamus and reveal common and disease-specific features in patients with Parkinson's disease (PD) and cervical dystonia (CD). Single unit activity of neurons was recorded during microelectrode-guided thalamotomies. We classified neurons of surgical target and surrounding area into patterns and compared their characteristics and responsiveness to voluntary movement between PD and CD patients. We distinguished five patterns of neuronal activity: single, LTS burst, mixed, non-LTS burst and longburst patterns. The burst and mixed patterns showed significant differences in several basic and burst characteristics. We showed that there were no disease-specific patterns or significant differences in pattern distribution between studied patients. However, burst patterns had an unbalanced distribution between disease conditions. In addition, we found difference in LTS burst characteristics between surgical targets and surrounding nuclei. All identified patterns, except the long burst pattern, were reactive to the motor tasks and to contraction of the pathological muscles. The ventral thalamus was characterised by common neuronal activity patterns which differed in characteristics between PD and CD. Our findings highlight patterns of neuronal activity of the human ventral thalamus and specific pathological features. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  12. Left atrial appendage occlusion

    Directory of Open Access Journals (Sweden)

    Ahmad Mirdamadi

    2013-01-01

    Full Text Available Left atrial appendage (LAA occlusion is a treatment strategy to prevent blood clot formation in atrial appendage. Although, LAA occlusion usually was done by catheter-based techniques, especially percutaneous trans-luminal mitral commissurotomy (PTMC, it can be done during closed and open mitral valve commissurotomy (CMVC, OMVC and mitral valve replacement (MVR too. Nowadays, PTMC is performed as an optimal management of severe mitral stenosis (MS and many patients currently are treated by PTMC instead of previous surgical methods. One of the most important contraindications of PTMC is presence of clot in LAA. So, each patient who suffers of severe MS is evaluated by Trans-Esophageal Echocardiogram to rule out thrombus in LAA before PTMC. At open heart surgery, replacement of the mitral valve was performed for 49-year-old woman. Also, left atrial appendage occlusion was done during surgery. Immediately after surgery, echocardiography demonstrates an echo imitated the presence of a thrombus in left atrial appendage area, although there was not any evidence of thrombus in pre-pump TEE. We can conclude from this case report that when we suspect of thrombus of left atrial, we should obtain exact history of previous surgery of mitral valve to avoid misdiagnosis clotted LAA, instead of obliterated LAA. Consequently, it can prevent additional evaluations and treatments such as oral anticoagulation and exclusion or postponing surgeries including PTMC.

  13. Hypoplastic left heart syndrome

    Directory of Open Access Journals (Sweden)

    Thiagarajan Ravi

    2007-05-01

    Full Text Available Abstract Hypoplastic left heart syndrome(HLHS refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to 0.036% of all live births. Newborn infants with the condition generally are born at full term and initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased, resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart murmur, may be detected. The second heart sound is loud and single because of aortic atresia. Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the disease, as in the case of most congenital cardiac defects, is not fully known. The most useful diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other left-sided obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic stenosis, coarctation of the aorta, interrupted aortic arch. Children with the syndrome require surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two major modalities, primary cardiac transplantation or a series of staged functionally univentricular palliations. The treatment chosen is dependent on the preference of the institution, its experience, and also preference. Although survival following initial surgical intervention has improved significantly over the last 20 years, significant mortality and morbidity are present for both surgical strategies. As a result pediatric cardiologists continue to be challenged by discussions with families regarding initial decision

  14. Worldwide Report, Arms Control.

    Science.gov (United States)

    1985-06-21

    Koivisto Advocates Nordic Nuclear-Free Zone (Helsinki Domestic Service, 20 Apr 85) 98 Norwegian MP’s: Change Government To Set Up Zone (BJorn Talen...also other crimes equally offensive, Brandt said, "Whoever seeks to render Auschwitz harmless by way of expulsions, has understood nothing and...Werner said. The invasion of Afghanistan also helped to further sour the international climate . The Left Party-Communists have several times turned

  15. Effects of arm crossing on spatial perspective-taking.

    Directory of Open Access Journals (Sweden)

    Tiziano Furlanetto

    Full Text Available Human social interactions often require people to take a different perspective than their own. Although much research has been done on egocentric spatial representation in a solo context, little is known about how space is mapped in relation to other bodies. Here we used a spatial perspective-taking paradigm to investigate whether observing a person holding his arms crossed over the body midline has an impact on the encoding of left/right and front/back spatial relations from that person's perspective. In three experiments, we compared performance in a task in which spatial judgments were made from the perspective of the participant or from that of a co-experimenter. Depending on the experimental condition, the participant's and the co-experimenter's arms were either crossed or not crossed over the midline. Our results showed that crossing the arms had a specific effect on spatial judgments based on a first-person perspective. More specifically, the responses corresponding to the dominant hand side were slower in the crossed than in the uncrossed arms condition. Crucially, a similar effect was also found when the participants adopted the perspective of a person holding his arms crossed, but not when the other person's arms were held in an unusual but uncrossed posture. Taken together these findings indicate that egocentric space and altercentric space are similarly coded in neurocognitive maps structured with respect to specific body segments.

  16. The Colombian Left: A Paradoxical Past; A Promising Future?

    Directory of Open Access Journals (Sweden)

    Charles Bergquist

    2017-07-01

    Full Text Available The essay explores the paradoxical history of the left in Colombia: how and why one of the weakest lefts in Latin America brought about the strongest and most lasting Marxist insurrection in the hemisphere in the decades following the Cuban Revolution. The article argues that the terms of this paradox are related, that the historic weakness of the left partly explains the force and longevity of revolutionary guerrillas, and that said paradox helps clarify not only the failure of several attempts to achieve a negotiated settlement of the armed conflict, but also the negative vote in the October 2016 plebiscite. Finally, it envisions a more promising future for the country’s left, provided that a lasting peace is consolidated.

  17. Robotic Arm Biobarrier Cable

    Science.gov (United States)

    2008-01-01

    This image, taken by the Surface Stereo Imager on NASA's Phoenix Mars Lander on the 14th Martian day of the mission (June 7, 2008), shows the cable that held the Robotic Arm's biobarrier in place during flight has snapped. The cable's springs retracted to release the biobarrier right after landing. To the lower right of the image a spring is visible. Extending from that spring is a length of cable that snapped during the biobarrier's release. A second spring separated from the cable when it snapped and has been photographed on the ground under the lander near one of the legs. The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

  18. Contralesional arm preference depends on hemisphere of damage and target location in unilateral stroke patients

    Science.gov (United States)

    Mani, Saandeep; Przybyla, Andrzej; Good, David C.; Haaland, Kathleen Y.; Sainburg, Robert L.

    2014-01-01

    Background Previous research has shown that during simulated activities of daily living right handed stroke patients use their contralesional arm more after left than right hemisphere stroke. These findings were attributed to a hand preference effect. However, these decisions about when to use the contralesional arm may be modulated by where in the work space the task is performed, a factor that could be used in physical rehabilitation to influence recovery by decreasing learned non-use. Objective To examine how target location and side of stroke influences arm selection choices for simple reaching movements. Methods Fourteen right-handed stroke patients (7 with left hemisphere damage, 7 with right hemisphere damage) with similar degree of hemiparesis (Fugl-Meyer motor score), and 16 right-handed control subjects participated in this experiment. Thirty-two targets were presented throughout the reachable horizontal plane workspace in a pseudo-random fashion, and the subjects were asked to select one hand to reach the target on each trial. Results The left hemisphere damaged group chose their contralesional arm significantly more often than the right hemisphere damaged group. Patients with right hemisphere damage also chose their left (contralesional) arm significantly less than the control group. However, these patterns of choice were most pronounced in the center of the workspace. Conclusion Both the side of hemisphere damage and workspace location played a significant role in the choice of whether to use the contralesional arm for reaching. These findings have implications for structuring rehabilitation for unilateral stroke patients. PMID:24523143

  19. Have Third-World Arms Industries Reduced Arms Imports?

    OpenAIRE

    Looney, R.E.

    1989-01-01

    Current Research on Peace and Violence, no. 1, 1989. Refereed Journal Article In 1945 only Argentina, Brazil, India and South Africa in the Third World possessed domestic arms industries which produced weapons systems other than small arms and ammunition (SIPRI, 1987, 76).

  20. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

    Directory of Open Access Journals (Sweden)

    Erin Conboy

    2017-01-01

    Full Text Available ACTB encodes the β-actin, and pathogenic variations in this gene have typically been associated with Baraitser-Winter cerebrofrontofacial syndrome, a congenital malformation syndrome characterized by short stature, craniofacial anomalies, and cerebral anomalies. Here, we describe the third case with the p.Arg183Trp variant in ACTB causing juvenile-onset dystonia. Our patient has severe, intractable dystonia, developmental delay, and sensorineural hearing loss, besides hyperintensities in the caudate nuclei and putamen on the brain MRI, which is a distinct but overlapping phenotype with the previously reported case of identical twins with the same alteration in ACTB.

  1. Left Ventricular Assist Devices

    Directory of Open Access Journals (Sweden)

    Khuansiri Narajeenron

    2017-04-01

    Full Text Available Audience: The audience for this classic team-based learning (cTBL session is emergency medicine residents, faculty, and students; although this topic is applicable to internal medicine and family medicine residents. Introduction: A left ventricular assist device (LVAD is a mechanical circulatory support device that can be placed in critically-ill patients who have poor left ventricular function. After LVAD implantation, patients have improved quality of life.1 The number of LVAD patients worldwide continues to rise. Left-ventricular assist device patients may present to the emergency department (ED with severe, life-threatening conditions. It is essential that emergency physicians have a good understanding of LVADs and their complications. Objectives: Upon completion of this cTBL module, the learner will be able to: 1 Properly assess LVAD patients’ circulatory status; 2 appropriately resuscitate LVAD patients; 3 identify common LVAD complications; 4 evaluate and appropriately manage patients with LVAD malfunctions. Method: The method for this didactic session is cTBL.

  2. Right arm injection of contrast medium reduces venous artifacts in head and neck multislice spiral computed tomography angiography.

    Science.gov (United States)

    Fang, H; Song, Y-L; Li, X-S; Bi, Y-M; Wang, P; Fan, H-X; Meng, L M; Hu, H-X

    2015-12-01

    We tested whether injection of contrast medium via right or left arm would affect venous artifacts on head and neck multislice spiral computed tomography (CT) angiography. 326 patients were enrolled. Each patient was injected with 10 ml of contrast medium at 5 ml/sec. Time of peak contrast value plus an additional 1 sec was defined as delay time. Another 40 ml of contrast medium were injected with the same injection speed. The scanning area ranged from the aortic arch to the top of the head. Left and right forearms were used for intravenous injections of contrast medium in, respectively, 151 and 175 patients. Comparative analyses of image quality included determining contrast medium residues remaining in the superior vena cava, brachiocephalic vein, or subclavian vein, and comparisons of quality of three-dimensional CT angiography. In 75% of head and neck angiographies, the delay time of the common carotid artery ranged from 16 to 22 sec. In 60% of the images, the quality was graded as excellent, with the left arm injection resulting in delay time of > 23 sec and the right arm delay time of > 18 sec. The CT imaging quality after contrast injections via left or right arms was statistically significant (p arm injection was better than after left arm injection. Intravenous injection of contrast medium via right arm reduces artifacts from contrast medium residues and improves the image quality of head and neck CT angiography.

  3. PET Neuroimaging: Insights on Dystonia and Tourette syndrome and potential applications

    Directory of Open Access Journals (Sweden)

    Pierpaolo eAlongi

    2014-09-01

    Full Text Available Primary Dystonia (pD is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Gilles de la Tourette Syndrome (GTS is a childhood-onset neuropsychiatric developmental disorder characterised by motor and phonic tics, which could progress to behavioural changes. GTS and obsessive-compulsive disorders (OCD are often seen in comorbidity, also suggesting a possible overlap in the pathophysiological bases of these two conditions. PET techniques are of considerable value in detecting functional and molecular abnormalities in vivo, according to the adopted radioligands. For example, PET is the unique technique that allows in vivo investigation of neurotransmitter systems, providing evidence of changes in GTS or pD. For example, presynaptic and postsynaptic dopaminergic studies with PET have shown alterations compatible with dysfunction or loss of D2-bearing neurons, increased synaptic dopamine levels, or both. Measures of cerebral glucose metabolism with 18F-fluorodeoxyglucose (18F-FDG PET are very sensitive in showing brain functional alterations as well. 18F-FDG PET data have shown metabolic changes within the cortico-striato-pallido-thalamo-cortical and cerebello-thalamo-cortical networks, revealing possible involvement of brain circuits not limited to basal ganglia in pD and GTS. The aim of this work is to overview PET consistent neuroimaging literature on pD and GTS that has provided functional and molecular knowledge of the underlying neural dysfunction. Furthermore we suggest potential applications of these techniques in monitoring treatments.

  4. LISA Long-Arm Interferometry

    Science.gov (United States)

    Thorpe, James I.

    2009-01-01

    An overview of LISA Long-Arm Interferometry is presented. The contents include: 1) LISA Interferometry; 2) Constellation Design; 3) Telescope Design; 4) Constellation Acquisition; 5) Mechanisms; 6) Optical Bench Design; 7) Phase Measurement Subsystem; 8) Phasemeter Demonstration; 9) Time Delay Interferometry; 10) TDI Limitations; 11) Active Frequency Stabilization; 12) Spacecraft Level Stabilization; 13) Arm-Locking; and 14) Embarassment of Riches.

  5. Teaching about the Arms Race.

    Science.gov (United States)

    Schroeer, Dietrich

    1983-01-01

    Focusing on long-term arms-race education, discusses what physicists can do to help provide students and the public with technical information needed to understand issues involved in the nuclear cold war. Suggestions provided focus on public programs, media, publications, education of physicists, arms-race courses, "enrichment in physics courses,"…

  6. Arménie

    Directory of Open Access Journals (Sweden)

    François Verdier

    2012-04-01

    Full Text Available L’Arménie est une petite république du Caucase, à la limite sud–est de l’Europe, qui a gagné son autonomie en 1990 après l’ouverture du bloc soviétique. Le nouveau Ministère du Patrimoine a sollicité la coopération de la France pour mettre en place une nouvelle politique culturelle. Tout d’abord, une évaluation sur place de la situation dans les domaines des monuments historiques, de l’archéologie et de l’Inventaire a permis d’envisager les réponses à proposer. Pour la demande d’informatisation des dossiers d’inventaire déjà réalisés sous l’autorité de l’Académie de Saint–Petersbourg, nous avons proposé de former des chercheurs arméniens aux méthodes et techniques de l’Inventaire général. L’accueil d’une stagiaire pendant trois mois au service régional de l’Inventaire de Haute–Normandie a été suivi par la mise en place d’un équipement informatique à Yérévan, puis par l’accueil et la formation de techniciens informaticiens et photographes arméniens. De retour dans leur pays ils ont commencé à remettre en place un service d’inventaire dont le programme comprend la création d’une base de données patrimoniales, le recensement de la ville de Yérévan, la numérisation d’images pour la publication d’un indicateur du patrimoine et la préparation de dossiers de protection au titre du patrimoine mondial.The Armenian heritage comprises both archaeological remains of towns destroyed by never–ending wars and a number of old churches from the eleventh and twelfth centuries. Yerevan, the capital of Armenia, was founded three thousand years ago and is one of Europe’s oldest capitals. From 1925 it has developed according to an ambitious urban planning project. After the major political upheavals of 1991, a special ministry was created to look after the architectural and movable heritage of the country and to promote the Armenian national identity. A mission in Yerevan was

  7. Phoenix Robotic Arm's Workspace After 90 Sols

    Science.gov (United States)

    2008-01-01

    During the first 90 Martian days, or sols, after its May 25, 2008, landing on an arctic plain of Mars, NASA's Phoenix Mars Lander dug several trenches in the workspace reachable with the lander's robotic arm. The lander's Surface Stereo Imager camera recorded this view of the workspace on Sol 90, early afternoon local Mars time (overnight Aug. 25 to Aug. 26, 2008). The shadow of the the camera itself, atop its mast, is just left of the center of the image and roughly a third of a meter (one foot) wide. The workspace is on the north side of the lander. The trench just to the right of center is called 'Neverland.' The Phoenix Mission is led by the University of Arizona, Tucson, on behalf of NASA. Project management of the mission is by NASA's Jet Propulsion Laboratory, Pasadena, Calif. Spacecraft development is by Lockheed Martin Space Systems, Denver.

  8. Magnetic spiral arms in galaxy haloes

    Science.gov (United States)

    Henriksen, R. N.

    2017-08-01

    We seek the conditions for a steady mean field galactic dynamo. The parameter set is reduced to those appearing in the α2 and α/ω dynamo, namely velocity amplitudes, and the ratio of sub-scale helicity to diffusivity. The parameters can be allowed to vary on conical spirals. We analyse the mean field dynamo equations in terms of scale invariant logarithmic spiral modes and special exact solutions. Compatible scale invariant gravitational spiral arms are introduced and illustrated in an appendix, but the detailed dynamical interaction with the magnetic field is left for another work. As a result of planar magnetic spirals `lifting' into the halo, multiple sign changes in average rotation measures forming a regular pattern on each side of the galactic minor axis, are predicted. Such changes have recently been detected in the Continuum Halos in Nearby Galaxies-an EVLA Survey (CHANG-ES) survey.

  9. Left Ventricular Pseudoaneurysm Perceived as a Left Lung Mass

    Directory of Open Access Journals (Sweden)

    Ugur Gocen

    2013-02-01

    Full Text Available Left ventricular pseudo-aneurysm is a rare complication of aneurysmectomy. We present a case of surgically-treated left ventricular pseudo-aneurysm which was diagnosed three years after coronary artery bypass grafting and left ventricular aneurysmectomy. The presenting symptoms, diagnostic evaluation and surgical repair are described. [Cukurova Med J 2013; 38(1.000: 123-125

  10. Arm and neck pain in ultrasonographers.

    Science.gov (United States)

    Claes, Frank; Berger, Jan; Stassijns, Gaëtane

    2015-03-01

    The aim of this study was to evaluate the prevalence of upper-body-quadrant pain among ultrasonographers and to evaluate the association between individual ergonomics, musculoskeletal disorders, and occurrence of neck pain. A hundred and ten (N = 110) Belgian and Dutch male and female hospital ultrasonographers were consecutively enrolled in the study. Data on work-related ergonomic and musculoskeletal disorders were collected with an electronic inquiry, including questions regarding ergonomics (position of the screen, high-low table, and ergonomic chair), symptoms (neck pain, upper-limb pain), and work-related factors (consecutive working hours a day, average working hours a week). Subjects with the screen on their left had significantly more neck pain (odds ratio [OR] = 3.6, p = .0286). Depending on the workspace, high-low tables increased the chance of developing neck pain (OR = 12.9, p = .0246). A screen at eye level caused less neck pain (OR = .22, p = .0610). Employees with a fixed working space were less susceptible to arm pain (OR = 0.13, p = .0058). The prevalence of arm pain was significantly higher for the vascular department compared to radiology, urology, and gynecology departments (OR = 9.2, p = .0278). Regarding prevention of upper-limb pain in ultrasonograph, more attention should be paid to the work environment and more specialty to the ultrasound workstation layout. Primary ergonomic prevention could provide a painless work situation for the ultrasonographer. Further research on the ergonomic conditions of ultrasonography is necessary to develop ergonomic solutions in the work environment that will help to alleviate neck and arm pain. © 2014, Human Factors and Ergonomics Society.

  11. Persistent Left Superior Vena Cava, The View of a Rare Case

    Directory of Open Access Journals (Sweden)

    H.Volkan Kara

    2013-10-01

    Full Text Available The glenohumeral joint is the most commonly dislocated joint in the human body. Anterior dislocatin is the most common type and posterior dislocations account for <1% of shoulder dislocations.  A 68-yearold woman was brought to the emergency department by ambulance  with shoulder pain following a fall from stairs. On local physical examination, there was severe pain on the left proximal humerus. The left arm was in internal rotation in the adducted position. Active and passive movements of the left shoulder were painful and limited. The neurovascular examination of the left upper extremity revealed no deficit. Radiographs of her left shoulder were performed and no significant pathology was identified in the left shoulder anteroposterior (AP X-ray (Figure 1. Axillary radiography could not be performed because of painful arm movements. Therefore, CT was performed to clarify any existing shoulder pathology (Figure 2. Closed reduction under conscious sedation was performed with longitudinal and lateral traction on the arm to protect the humeral head. Control CT was performed and this revealed that reduction had improved the shoulder (Figure 3. She was then treated with an arm sling and discharged with an outpatient orthopaedic control visit.

  12. Serial 1H-MRS of thalamus during deep brain stimulation of bilateral globus pallidus internus for primary generalized dystonia

    International Nuclear Information System (INIS)

    Chernov, Mikhail F.; Iseki, Hiroshi; Takakura, Kintomo; Ochiai, Taku; Taira, Takaomi; Hori, Tomokatsu; Ono, Yuko; Nakamura, Ryoichi; Muragaki, Yoshihiro

    2008-01-01

    The physiological mechanisms of deep brain stimulation (DBS) are not completely clear. Our understanding of them may be facilitated with the use of proton magnetic resonance spectroscopy ( 1 H-MRS). Serial 1 H-MRS of both thalami was performed during the course of DBS of bilateral globus pallidus internus in a patient with primary generalized dystonia. Two days after microelectrode implantation, a pulse frequency of 185 Hz was applied for stimulation. It resulted in relief of symptoms and a decrease of Burke-Fahn-Marsden dystonia rating scale (BFMDRS) scores, and was accompanied by a prominent increase of N-acetylaspartate (NAA)/choline-containing compounds (Cho) ratio, a mild increase of NAA/creatine (Cr) ratio, and a moderate decrease of Cho/Cr ratio. Two weeks later, for a search of the optimal stimulation mode, the pulse frequency was switched to 60 Hz, which resulted in clinical deterioration and significant increase of BFMDRS scores. At that time, all investigated 1 H-MRS-detected metabolic parameters had nearly returned to the pretreatment levels. Use of serial 1 H-MRS investigations of various brain structures during DBS in cases of movement disorders permits detailed evaluation of the treatment response, has a potential for its possible prediction, and may facilitate understanding of the physiological mechanisms of stimulation. (orig.)

  13. British Neurotoxin Network recommendations for managing cervical dystonia in patients with a poor response to botulinum toxin.

    Science.gov (United States)

    Marion, Marie-Helene; Humberstone, Miles; Grunewald, Richard; Wimalaratna, Sunil

    2016-08-01

    Botulinum toxin (BoNT) injections are an effective treatment for cervical dystonia. Approximately 20% of patients eventually stop BoNT treatment, mostly because of treatment failure. These recommendations review the different therapeutic interventions for optimising the treatment in secondary poor responder patients. Immunoresistance has become less common over the years, but the diagnosis has to be addressed with a frontalis test or an Extensor Digitorum Brevis test. In case of immunoresistance to BoNT-A, we discuss the place the different therapeutic options (BoNT-A holidays, BoNT-B injections, alternative BoNT-A injections, deep brain stimulation). When poor responders are not immunoresistant, they benefit from reviewing (1) injections technique with electromyography or ultrasound guidance, (2) muscles selection and (3) dose of BoNT. In addition, in both scenarios, a holistic approach including drug treatment, retraining and psychological support is valuable in the management of these complex and severe cervical dystonia. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  14. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    DEFF Research Database (Denmark)

    Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-Hee

    2017-01-01

    A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous...

  15. Treatment of dystonia in extensor hallucis longus and digitorum muscles with neurotomy of the branches of the deep fibular nerve: Preliminary results.

    Science.gov (United States)

    Allart, E; Rogeau, C; Grauwin, M-Y; Nachef, N; Lannes, X; Rousseaux, M; Thevenon, A; Fontaine, C

    2015-05-01

    Dystonia in extensor hallucis and/or digitorum muscles can be observed in pyramidal and extrapyramidal lesions and results in pain in these toes, spontaneous or when walking, problems and discomfort when putting on shoes and socks, and cutaneous lesions on the toes. The objective of this study was to assess the efficacy and safety of deep fibular nerve neurotomy for the extensor hallucis longus (EHL) and/or the extensor digitorum longus (EDL) branches in the treatment of extension dystonia of the hallux and/or other toes. A deep fibular nerve neurotomy was performed in 20 patients (n=19 for the EHL, n=6 for the EDL). We retrospectively analyzed the treatment's efficacy and safety and assessed the patients' self-reported improvement and overall treatment satisfaction. Dystonia totally disappeared in 15 cases (75%); it persisted at a minimal level in the other patients. The patients reported a decrease in pain (P<0.01) and fewer difficulties putting on shoes and socks (P<0.001) and had a high median level of satisfaction (8.5/10). Adverse effects were rare and transient. The identification of the nerve branches was sometimes difficult. Deep fibular nerve neurotomy for the EHL and/or EDL branches seems to be an effective treatment for extension dystonia of the hallux and/or other toes and its consequences for the adult neurological patient. However, these encouraging preliminary results should be confirmed by prospective, longer-term studies. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  16. Clinical outcome of deep brain stimulation for dystonia: constant-current or constant-voltage stimulation? A non-randomized study.

    Science.gov (United States)

    Lettieri, C; Rinaldo, S; Devigili, G; Pisa, F; Mucchiut, M; Belgrado, E; Mondani, M; D'Auria, S; Ius, T; Skrap, M; Eleopra, R

    2015-06-01

    Bilateral globus pallidus deep brain stimulation (GPi-DBS) represents an effective and relatively safe therapy for different forms of refractory dystonia. The aim of this study was to assess, retrospectively, the effect of two different stimulation settings during GPi-DBS in 22 patients affected by primary generalized or multi-segmental dystonia. Thirteen patients were stimulated using a voltage-controlled setting whilst in the other nine patients a current-controlled setting was used. Clinical features were evaluated for each patient at baseline, 6 months and 12 months after surgery by means of the Burke-Fahn-Marsden Dystonia Rating Scale. Globus pallidus deep brain stimulation was effective in all patients. However, comparing constant-current and constant-voltage stimulation, a better outcome was found in the current-controlled group during the last 6 months of follow-up. Current-controlled stimulation is effective during GPi-DBS for primary dystonia and it could be a better choice than voltage-controlled stimulation over long-term follow-up. © 2014 The Author(s) European Journal of Neurology © 2014 EAN.

  17. Incidence of tardive dyskinesia and tardive dystonia in African Caribbean patients on long-term antipsychotic treatment : The Curacao Extrapyramidal Syndromes Study V

    NARCIS (Netherlands)

    van Harten, Peter N.; Hoek, Hans W.; Matroos, Glenn E.; van Os, Jim

    2006-01-01

    Objective: Tardive dyskinesia (TD) and tardive dystonia (TDt) syndromes represent severe side effects of first-generation antipsychotics (FGAs). Although second-generation antipsychotics (SGAs) confer a lower risk for tardive syndromes, many patients continue to use FGAs alone or in combination with

  18. International security and arms control

    International Nuclear Information System (INIS)

    Ekeus, R.

    2000-01-01

    The end of the cold war also ended the focus on the bilateral approach to arms control and disarmament. Key concepts of security needed to be revisited, along with their implications for the disarmament and arms control agenda. Though there is currently a unipolar global security environment, there remain important tasks on the multilateral arms control agenda. The major task is that of reducing and eliminating weapons of mass destruction, especially nuclear weapons. The author contends that maintaining reliance on the nuclear-weapons option makes little sense in a time when the major Powers are strengthening their partnerships in economics, trade, peacemaking and building. (author)

  19. ARM Lead Mentor Selection Process

    Energy Technology Data Exchange (ETDEWEB)

    Sisterson, DL

    2013-03-13

    The ARM Climate Research Facility currently operates more than 300 instrument systems that provide ground-based observations of the atmospheric column. To keep ARM at the forefront of climate observations, the ARM infrastructure depends heavily on instrument scientists and engineers, also known as Instrument Mentors. Instrument Mentors must have an excellent understanding of in situ and remote-sensing instrumentation theory and operation and have comprehensive knowledge of critical scale-dependent atmospheric processes. They also possess the technical and analytical skills to develop new data retrievals that provide innovative approaches for creating research-quality data sets.

  20. A comparative historical and demographic study of the neuromodulation management techniques of deep brain stimulation for dystonia and cochlear implantation for sensorineural deafness in children.

    Science.gov (United States)

    Hudson, V E; Elniel, A; Ughratdar, I; Zebian, B; Selway, R; Lin, J P

    2017-01-01

    Cochlear implants for sensorineural deafness in children is one of the most successful neuromodulation techniques known to relieve early chronic neurodisability, improving activity and participation. In 2012 there were 324,000 recipients of cochlear implants globally. To compare cochlear implant (CI) neuromodulation with deep brain stimulation (DBS) for dystonia in childhood and explore relations between age and duration of symptoms at implantation and outcome. Comparison of published annual UK CI figures for 1985-2009 with a retrospective cohort of the first 9 years of DBS for dystonia in children at a single-site Functional Neurosurgery unit from 2006 to 14. From 2006 to 14, DBS neuromodulation of childhood dystonia increased by a factor of 3.8 to a total of 126 cases over the first 9 years, similar to the growth in cochlear implants which increased by a factor of 4.1 over a similar period in the 1980s rising to 527 children in 2009. The CI saw a dramatic shift in practice from implantation at >5 years of age at the start of the programme towards earlier implantation by the mid-1990s. Best language results were seen for implantation 4 years, hence implantation children could benefit from cochlear neuromodulation if implanted early. Similar to initial CI use, the majority of children receiving DBS for dystonia in the first 9 years were 5-15 years of age, when the proportion of life lived with dystonia exceeds 90% thus limiting benefits. Early DBS neuromodulation for acquired motor disorders should be explored to maximise the benefits of dystonia reduction in a period of maximal developmental plasticity before the onset of disability. Learning from cochlear implantation, DBS can become an accepted management option in children under the age of 5 years who have a reduced proportion of life lived with dystonia, and not viewed as a last resort reserved for only the most severe cases where benefits may be at their most limited. Copyright © 2016 European Paediatric

  1. Why Dora Left

    DEFF Research Database (Denmark)

    Gammelgård, Judy

    2017-01-01

    The question of why Dora left her treatment before it was brought to a satisfactory end and the equally important question of why Freud chose to publish this problematic and fragmentary story have both been dealt with at great length by Freud’s successors. Dora has been read by analysts, literary...... critics, and not least by feminists. The aim of this paper is to point out the position Freud took toward his patient. Dora stands out as the one case among Freud’s 5 great case stories that has a female protagonist, and reading the case it becomes clear that Freud stumbled because of an unresolved...... problem toward femininity, both Dora’s and his own. In Dora, it is argued, Freud took a new stance toward the object of his investigation, speaking from the position of the master. Freud presents himself as the one who knows, in great contrast to the position he takes when unraveling the dream. Here he...

  2. A loud auditory stimulus overcomes voluntary movement limitation in cervical dystonia.

    Directory of Open Access Journals (Sweden)

    Tereza Serranová

    Full Text Available BACKGROUND: Patients with cervical dystonia (CD present with an impaired performance of voluntary neck movements, which are usually slow and limited. We hypothesized that such abnormality could involve defective preparation for task execution. Therefore, we examined motor preparation in CD patients using the StartReact method. In this test, a startling auditory stimulus (SAS is delivered unexpectedly at the time of the imperative signal (IS in a reaction time task to cause a faster execution of the prepared motor programme. We expected that CD patients would show an abnormal StartReact phenomenon. METHODS: Fifteen CD patients and 15 age matched control subjects (CS were asked to perform a rotational movement (RM to either side as quick as possible immediately after IS perception (a low intensity electrical stimulus to the II finger. In randomly interspersed test trials (25% a 130 dB SAS was delivered simultaneously with the IS. We recorded RMs in the horizontal plane with a high speed video camera (2.38 ms per frame in synchronization with the IS. The RM kinematic-parameters (latency, velocity, duration and amplitude were analyzed using video-editing software and screen protractor. Patients were asked to rate the difficulty of their RMs in a numerical rating scale. RESULTS: In control trials, CD patients executed slower RMs (repeated measures ANOVA, p<0.10(-5, and reached a smaller final head position angle relative to the midline (p<0.05, than CS. In test trials, SAS improved all RMs in both groups (p<0.10(-14. In addition, patients were more likely to reach beyond their baseline RM than CS (χ(2, p<0.001 and rated their performance better than in control trials (t-test, p<0.01. CONCLUSION: We found improvement of kinematic parameters and subjective perception of motor performance in CD patients with StartReact testing. Our results suggest that CD patients reach an adequate level of motor preparation before task execution.

  3. Borehole tool outrigger arm displacement control mechanism

    International Nuclear Information System (INIS)

    Lee, A.G.

    1985-01-01

    As the outrigger arms of a borehole logging tool are flexed inwardly and outwardly according to the diameter of the borehole opening through which they pass, the corresponding axial displacements of the ends of the arms are controlled to determine the axial positions of the arms relative to the tool. Specifically, as the arm ends move, they are caused to rotate by a cam mechanism. The stiffness of the arms causes the arm ends to rotate in unison, and the exact positions of the arms on the tool are then controlled by the differential movements of the arm ends in the cams

  4. Tyrosine hydroxylase immunoreactivity and [3H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia

    International Nuclear Information System (INIS)

    Nobrega, J.N.; Gernert, M.; Loescher, W.; Raymond, R.; Belej, T.; Richter, A.

    1999-01-01

    Recent pharmacological studies and receptor analyses have suggested that dopamine neurotransmission is enhanced in mutant dystonic hamsters (dt sz ), a model of idiopathic paroxysmal dystonia which displays attacks of generalized dystonia in response to mild stress. In order to further characterize the nature of dopamine alterations, the present study investigated possible changes in the number of dopaminergic neurons, as defined by tyrosine hydroxylase immunohistochemistry, as well as binding to the dopamine transporter labelled with [ 3 H]WIN 35,428 in dystonic hamsters. No differences in the number of tyrosine hydroxylase-immunoreactive neurons were found within the substantia nigra and ventral tegmental area of mutant hamsters compared to non-dystonic control hamsters. Similarly, under basal conditions, i.e. in the absence of a dystonic episode, no significant changes in [ 3 H]WIN 35,428 binding were detected in dystonic brains. However, in animals killed during the expression of severe dystonia, significant decreases in dopamine transporter binding became evident in the nucleus accumbens and ventral tegmental area in comparison to controls exposed to the same external stimulation. Since stimulation tended to increase [ 3 H]WIN 35,428 binding in control brains, the observed decrease in the ventral tegmental area appeared to be due primarily to the fact that binding was increased less in dystonic brains than in similarly stimulated control animals.This finding could reflect a diminished ability of the dopamine transporter to undergo adaptive changes in response to external stressful stimulation in mutant hamsters. The selective dopamine uptake inhibitor GBR 12909 (20 mg/kg) aggravated dystonia in mutant hamsters, further suggesting that acute alterations in dopamine transporter function during stimulation may be an important component of dystonia in this model. (Copyright (c) 1999 Elsevier Science B.V., Amsterdam. All rights reserved.)

  5. Changing patterns of arms transfers

    International Nuclear Information System (INIS)

    Wulf, H.

    1998-01-01

    Three factors in the international system have been of importance for the trade of arms: the role of the main actors on the supply side and since 1970 on the demand side, the permanently increasing importance of economics, and the balance trade, industrial capacity and jobs in supplier countries and purchasing power of potential importers. Two political events in 1991 had lasting effect on the development of the trade in arms: the dissolution of Soviet Union and the Gulf War

  6. High-definition transcranial direct-current stimulation of the right M1 further facilitates left M1 excitability during crossed facilitation.

    Science.gov (United States)

    Cabibel, Vincent; Muthalib, Makii; Teo, Wei-Peng; Perrey, Stephane

    2018-04-01

    The crossed-facilitation (CF) effect refers to when motor-evoked potentials (MEPs) evoked in the relaxed muscles of one arm are facilitated by contraction of the opposite arm. The aim of this study was to determine whether high-definition transcranial direct-current stimulation (HD-tDCS) applied to the right primary motor cortex (M1) controlling the left contracting arm [50% maximum voluntary isometric contraction (MVIC)] would further facilitate CF toward the relaxed right arm. Seventeen healthy right-handed subjects participated in an anodal and cathodal or sham HD-tDCS session of the right M1 (2 mA for 20 min) separated by at least 48 h. Single-pulse transcranial magnetic stimulation (TMS) was used to elicit MEPs and cortical silent periods (CSPs) from the left M1 at baseline and 10 min into and after right M1 HD-tDCS. At baseline, compared with resting, CF (i.e., right arm resting, left arm 50% MVIC) increased left M1 MEP amplitudes (+97%) and decreased CSPs (-11%). The main novel finding was that right M1 HD-tDCS further increased left M1 excitability (+28.3%) and inhibition (+21%) from baseline levels during CF of the left M1, with no difference between anodal and cathodal HD-tDCS sessions. No modulation of CSP or MEP was observed during sham HD-tDCS sessions. Our findings suggest that CF of the left M1 combined with right M1 anodal or cathodal HD-tDCS further facilitated interhemispheric interactions during CF from the right M1 (contracting left arm) toward the left M1 (relaxed right arm), with effects on both excitatory and inhibitory processing. NEW & NOTEWORTHY This study shows modulation of the nonstimulated left M1 by right M1 HD-tDCS combined with crossed facilitation, which was probably achieved through modulation of interhemispheric interactions.

  7. Unequal-Arms Michelson Interferometers

    Science.gov (United States)

    Tinto, Massimo; Armstrong, J. W.

    2000-01-01

    Michelson interferometers allow phase measurements many orders of magnitude below the phase stability of the laser light injected into their two almost equal-length arms. If, however, the two arms are unequal, the laser fluctuations can not be removed by simply recombining the two beams. This is because the laser jitters experience different time delays in the two arms, and therefore can not cancel at the photo detector. We present here a method for achieving exact laser noise cancellation, even in an unequal-arm interferometer. The method presented in this paper requires a separate readout of the relative phase in each arm, made by interfering the returning beam in each arm with a fraction of the outgoing beam. By linearly combining the two data sets with themselves, after they have been properly time shifted, we show that it is possible to construct a new data set that is free of laser fluctuations. An application of this technique to future planned space-based laser interferometer detector3 of gravitational radiation is discussed.

  8. Non-compact left ventricle/hypertrabeculated left ventricle

    International Nuclear Information System (INIS)

    Restrepo, Gustavo; Castano, Rafael; Marmol, Alejandro

    2005-01-01

    Non-compact left ventricle/hypertrabeculated left ventricle is a myocardiopatie produced by an arrest of the normal left ventricular compaction process during the early embryogenesis. It is associated to cardiac anomalies (congenital cardiopaties) as well as to extracardial conditions (neurological, facial, hematologic, cutaneous, skeletal and endocrinological anomalies). This entity is frequently unnoticed, being diagnosed only in centers with great experience in the diagnosis and treatment of myocardiopathies. Many cases of non-compact left ventricle have been initially misdiagnosed as hypertrophic myocardiopatie, endocardial fibroelastosis, dilated cardiomyopatie, restrictive cardiomyopathy and endocardial fibrosis. It is reported the case of a 74 years old man with a history of chronic arterial hypertension and diabetes mellitus, prechordial chest pain and mild dyspnoea. An echocardiogram showed signs of non-compact left ventricle with prominent trabeculations and deep inter-trabecular recesses involving left ventricular apical segment and extending to the lateral and inferior walls. Literature on this topic is reviewed

  9. Mechanical discordance between left atrium and left atrial appendage

    Directory of Open Access Journals (Sweden)

    Arash Khamooshian

    2018-01-01

    Full Text Available During standard transesophageal echocardiographic examinations in sinus rhythm (SR patients, the left atrial appendage (LAA is not routinely assessed with Doppler. Despite having a SR, it is still possible to have irregular activity in the LAA. This situation is even more important for SR patients where assessment of the left atrium is often foregone. We describe a case where we encountered this situation and briefly review how to assess the left atrium and its appendage in such a case scenario.

  10. [Left-handedness and health].

    Science.gov (United States)

    Milenković, Sanja; Belojević, Goran; Kocijancić, Radojka

    2010-01-01

    Hand dominance is defined as a proneness to use one hand rather than another in performing the majority of activities and this is the most obvious example of cerebral lateralization and an exclusive human characteristic. Left-handed people comprise 6-14% of the total population, while in Serbia, this percentage is 5-10%, moving from undeveloped to developed environments, where a socio-cultural pressure is less present. There is no agreement between investigators who in fact may be considered a left-handed person, about the percentage of left-handers in the population and about the etiology of left-handedness. In the scientific literature left-handedness has been related to health disorders (spine deformities, immunological disorders, migraine, neurosis, depressive psychosis, schizophrenia, insomnia, homosexuality, diabetes mellitus, arterial hypertension, sleep apnea, enuresis nocturna and Down Syndrome), developmental disorders (autism, dislexia and sttutering) and traumatism. The most reliable scientific evidences have been published about the relationship between left-handedness and spinal deformities in school children in puberty and with traumatism in general population. The controversy of other results in up-to-now investigations of health aspects of left-handedness may partly be explained by a scientific disagreement whether writing with the left hand is a sufficient criterium for left-handedness, or is it necessary to investigate other parameters for laterality assessment. Explanation of health aspects of left-handedness is dominantly based on Geschwind-Galaburda model about "anomalous" cerebral domination, as a consequence of hormonal disbalance.

  11. Interventional MRI-guided deep brain stimulation in pediatric dystonia: first experience with the ClearPoint system.

    Science.gov (United States)

    Starr, Philip A; Markun, Leslie C; Larson, Paul S; Volz, Monica M; Martin, Alastair J; Ostrem, Jill L

    2014-10-01

    The placement of deep brain stimulation (DBS) leads in adults is traditionally performed using physiological confirmation of lead location in the awake patient. Most children are unable to tolerate awake surgery, which poses a challenge for intraoperative confirmation of lead location. The authors have developed an interventional MRI (iMRI)-guided procedure to allow for real-time anatomical imaging, with the goal of achieving very accurate lead placement in patients who are under general anesthesia. Six pediatric patients with primary dystonia were prospectively enrolled. Patients were candidates for surgery if they had marked disability and medical therapy had been ineffective. Five patients had the DYT1 mutation, and mean age at surgery was 11.0 ± 2.8 years. Patients underwent bilateral globus pallidus internus (GPi, n = 5) or sub-thalamic nucleus (STN, n = 1) DBS. The leads were implanted using a novel skull-mounted aiming device in conjunction with dedicated software (ClearPoint system), used within a 1.5-T diagnostic MRI unit in a radiology suite, without physiological testing. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) was used at baseline, 6 months, and 12 months postoperatively. Further measures included lead placement accuracy, quality of life, adverse events, and stimulation settings. A single brain penetration was used for placement of all 12 leads. The mean difference (± SD) between the intended target location and the actual lead location, in the axial plane passing through the intended target, was 0.6 ± 0.5 mm, and the mean surgical time (leads only) was 190 ± 26 minutes. The mean percent improvement in the BFMDRS movement scores was 86.1% ± 12.5% at 6 months (n = 6, p = 0.028) and 87.6% ± 19.2% at 12 months (p = 0.028). The mean stimulation settings at 12 months were 3.0 V, 83 μsec, 135 Hz for GPi DBS, and 2.1 V, 60 μsec, 145 Hz for STN DBS). There were no serious adverse events. Interventional MRI-guided DBS using the Clear

  12. [Hemodynamic effects of the alveolar recruitment maneuver in cardiosurgical patients with left ventricular systolic dysfunction].

    Science.gov (United States)

    Bautin, A E; Mazurok, V A; Osovskikh, V V; Afanas'eva, K Iu

    2014-01-01

    To evaluate hemodynamic effects of the ahveolar recruitment maneuver (ARM) in cardiosurgical patients with left ventricular systolic dysfunction. We estimate hemnodynamics data obtained during intraoprative ARM in 16 cardiosuigical patients with left ventricular systolic dysfunction. ARMA were applied due to hypoxemnia with PaO2/FiO2 less than 250 nmm Hg. after CPB termination and heparin neutralization. Patients with signs of right heart failure were excluded from the study ARM were carried out after sternum closing. ARM method: Pinsp was increased stepwise until achievement of the alveoli opening point. PEEP was used 5 cm H2O greater than the lower inflection point in "pressure - vohlume" loop. The average alveoli opening pressure was 44.7 ± 2.5 cm H2O and the average PEEP was 12.8 ± 1.7 cm H2O. Hemodynamic parameters were eva luated before ARM and at the point of alveoli opening. Pulmnonary artery pressure and cardiac output were evaluated by Swan-Gant- catheter and thermodilution method Left ventricle contractility, preload and end-systolic (LVESWS) and end-diastolic (LVEDWS) wall stress were studied using TEE. t -test for dependent variables was used for statistical analysis. Data are presented as M ± δ. During ARM stroke volumne index decreased from 36.5 ± 4.2 to 33.5 ± 3.9 ml/m2 (p <0.05). Left ventricle contractility was not changed (there were no reduction in the left ventricle fraction area change (FAC)). Descent of left ventricular preload was the main cause of cardiac output decrease: end-diastolic area of the left ventricle decreased friom 22.6 ± 4.3 to 19.5 ± 4.1 cm2 (p <0.05). Preload renduction was accompanied by paradoxical increase in PCWP associated with an increase in intirathoracic pressure: friom 10.8 ± 4.6 to 13.8 ± 4 mm Hg (P <0.001). There was decrease in intramural left ventricular afterload during ARM: LVESWS decreased from 50.6 ± 11.5 to 39.5 ± 10.6 cm * kdyn-2 (p <0.01), which also contributed to the decline of oxygen demand

  13. 49 CFR 234.223 - Gate arm.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Gate arm. 234.223 Section 234.223 Transportation... Maintenance Standards § 234.223 Gate arm. Each gate arm, when in the downward position, shall extend across... clearly viewed by approaching highway users. Each gate arm shall start its downward motion not less than...

  14. 21 CFR 890.3640 - Arm sling.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Arm sling. 890.3640 Section 890.3640 Food and... PHYSICAL MEDICINE DEVICES Physical Medicine Prosthetic Devices § 890.3640 Arm sling. (a) Identification. An arm sling is a device intended for medical purposes to immobilize the arm, by means of a fabric band...

  15. Algorithms for Unequal-Arm Michelson Interferometers

    Science.gov (United States)

    Giampieri, Giacomo; Hellings, Ronald W.; Tinto, Massimo; Bender, Peter L.; Faller, James E.

    1994-01-01

    A method of data acquisition and data analysis is described in which the performance of Michelson-type interferometers with unequal arms can be made nearly the same as interferometers with equal arms. The method requires a separate readout of the relative phase in each arm, made by interfering the returning beam in each arm with a fraction of the outgoing beam.

  16. Measuring Disability in Patients With Cervical Dystonia According to the International Classification of Functioning, Disability and Health.

    Science.gov (United States)

    De Pauw, Joke; van der Velden, Kevin; Cox, Reen; Truijen, Steven; Cras, Patrick; Mercelis, Rudy; De Hertogh, Willem

    2017-07-01

    Cervical Dystonia (CD) is a rare movement disorder characterized by an abnormal head position. This cross-sectional study describes the health status and severity of disability using an internationally agreed language by applying the International Classification of Functioning, Disability and Health (ICF). Two disease-specific rating scales were administered to 30 patients with CD. By linking the individual answers to the ICF model, the frequency and severity of reported impairments and restrictions were estimated using a count-based method. Results showed that patients most frequently reported impairments linked to "neuromusculoskeletal and movement-related functions" and "mental functions." Most restrictions in activities were related to "interpersonal interactions and relations," "major life areas," and "community, social, and civic life." One third of the reported impairments can be labeled as severe disability. The findings show that CD causes disability in multiple levels of a patients' functioning in life, well beyond the cervical area.

  17. Pianism retraining via video conferencing as a means of assisting recovery from focal dystonia: a case study.

    Science.gov (United States)

    de Lisle, Rae; Speedy, Dale B; Thompson, John

    2010-09-01

    Focal dystonia (FD) is a devastating neurological condition which causes involuntary muscle contractions and often results in the loss of a musician's playing ability. Our study investigated whether retraining via video conferencing could be helpful in the treatment of a professional pianist with a 5-year history of FD. Although full recovery was not seen, improvement was observed at slow tempi, and his hand was visibly less cramped as training sessions progressed. We conclude that video conferencing could be an acceptable medium to assist pianism retraining in pianists with FD when location prevents on-site retraining. However, in this study it did not seem as effective as previously reported, similar, one-on-one retraining in the same location.

  18. NASA's Asteroid Redirect Mission (ARM)

    Science.gov (United States)

    Abell, Paul; Mazanek, Dan; Reeves, David; Naasz, Bo; Cichy, Benjamin

    2015-11-01

    The National Aeronautics and Space Administration (NASA) is developing a robotic mission to visit a large near-Earth asteroid (NEA), collect a multi-ton boulder from its surface, and redirect it into a stable orbit around the Moon. Once returned to cislunar space in the mid-2020s, astronauts will explore the boulder and return to Earth with samples. This Asteroid Redirect Mission (ARM) is part of NASA’s plan to advance the technologies, capabilities, and spaceflight experience needed for a human mission to the Martian system in the 2030s. Subsequent human and robotic missions to the asteroidal material would also be facilitated by its return to cislunar space. Although ARM is primarily a capability demonstration mission (i.e., technologies and associated operations), there exist significant opportunities to advance our knowledge of small bodies in the synergistic areas of science, planetary defense, asteroidal resources and in-situ resource utilization (ISRU), and capability and technology demonstrations. In order to maximize the knowledge return from the mission, NASA is organizing an ARM Investigation Team, which is being preceded by the Formulation Assessment and Support Team. These teams will be comprised of scientists, technologists, and other qualified and interested individuals to help plan the implementation and execution of ARM. An overview of robotic and crewed segments of ARM, including the mission requirements, NEA targets, and mission operations, will be provided along with a discussion of the potential opportunities associated with the mission.

  19. Tardive dyskinesia and tardive dystonia with second-generation antipsychotics in non-elderly schizophrenic patients unexposed to first-generation antipsychotics: a cross-sectional and retrospective study.

    Science.gov (United States)

    Ryu, Seunghyong; Yoo, Jae Hyun; Kim, Joo Hyun; Choi, Ji Sun; Baek, Ji Hyun; Ha, Kyooseob; Kwon, Jun Soo; Hong, Kyung Sue

    2015-02-01

    This study investigates the clinical nature, prevalence rates, and associated factors of second-generation antipsychotic (SGA)-related tardive dyskinesia and tardive dystonia. To date, these subjects have not been thoroughly investigated.The subjects were 80 non-elderly schizophrenic patients who received SGAs for more than 1 year without any previous exposure to first-generation antipsychotics. Multiple (≥2) direct assessments of movement symptoms were performed. Hospital records longer than 1 recent year describing any observed tardive movement symptoms were reviewed.A current or history of tardive dyskinesia and/or tardive dystonia associated with SGA was identified in 28 (35%) subjects. These patients were being treated with risperidone (n = 15), amisulpride, olanzapine, aripiprazole, ziprasidone, or clozapine at the time of the onset of the movement symptoms. Tardive dyskinesia was mostly in the orolingual area, and the most frequently observed tardive dystonia was torticollis. The median interval between the first exposure to the SGA and the movement syndrome onset was 15 months for tardive dyskinesia and 43 months for tardive dystonia. A history of acute dystonia was significantly associated with tardive dystonia, and comorbid obsessive-compulsive syndrome was related to both tardive movement syndromes.This study indicates that more clinical attention and research efforts are needed regarding SGA-associated tardive movement syndromes, including a larger-scale prevalence assessment. This study is the first to indicate that a comorbid obsessive-compulsive syndrome might be an associated factor of tardive movement syndrome. The association warrants further investigation.

  20. The Cervical Dystonia Impact Profile (CDIP-58: Can a Rasch developed patient reported outcome measure satisfy traditional psychometric criteria?

    Directory of Open Access Journals (Sweden)

    Bhatia Kailash P

    2008-08-01

    Full Text Available Abstract Background The United States Food and Drug Administration (FDA are currently producing guidelines for the scientific adequacy of patient reported outcome measures (PROMs in clinical trials, which will have implications for the selection of scales used in future clinical trials. In this study, we examine how the Cervical Dystonia Impact Profile (CDIP-58, a rigorous Rasch measurement developed neurologic PROM, stands up to traditional psychometric criteria for three reasons: 1 provide traditional psychometric evidence for the CDIP-58 in line with proposed FDA guidelines; 2 enable researchers and clinicians to compare it with existing dystonia PROMs; and 3 help researchers and clinicians bridge the knowledge gap between old and new methods of reliability and validity testing. Methods We evaluated traditional psychometric properties of data quality, scaling assumptions, targeting, reliability and validity in a group of 391 people with CD. The main outcome measures used were the CDIP-58, Medical Outcome Study Short Form-36, the 28-item General Health Questionnaire, and Hospital and Anxiety and Depression Scale. Results A total of 391 people returned completed questionnaires (corrected response rate 87%. Analyses showed: 1 data quality was high (low missing data ≤ 4%, subscale scores could be computed for > 96% of the sample; 2 item groupings passed tests for scaling assumptions; 3 good targeting (except for the Sleep subscale, ceiling effect = 27%; 4 good reliability (Cronbach's alpha ≥ 0.92, test-retest intraclass correlations ≥ 0.83; and 5 validity was supported. Conclusion This study has shown that new psychometric methods can produce a PROM that stands up to traditional criteria and supports the clinical advantages of Rasch analysis.

  1. Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses

    Directory of Open Access Journals (Sweden)

    Diego Iacono

    2015-05-01

    Full Text Available Background: Dystonias (Dys represent the third most common movement disorder after essential tremor (ET and Parkinson's disease (PD. While some pathogenetic mechanisms and genetic causes of Dys have been identified, little is known about their neuropathologic features. Previous neuropathologic studies have reported generically defined neuronal loss in various cerebral regions of Dys brains, mostly in the basal ganglia (BG, and specifically in the substantia nigra (SN. Enlarged pigmented neurons in the SN of Dys patients with and without specific genetic mutations (e.g., GAG deletions in DYT1 dystonia have also been described. Whether or not Dys brains are associated with decreased numbers or other morphometric changes of specific neuronal types is unknown and has never been addressed with quantitative methodologies. Methods: Quantitative immunohistochemistry protocols were used to estimate neuronal counts and volumes of nigral pigmented neurons in 13 SN of Dys patients and 13 SN of age‐matched control subjects (C. Results: We observed a significant reduction (∼20% of pigmented neurons in the SN of Dys compared to C (p<0.01. Neither significant volumetric changes nor evident neurodegenerative signs were observed in the remaining pool of nigral pigmented neurons in Dys brains. These novel quantitative findings were confirmed after exclusion of possible co‐occurring SN pathologies including Lewy pathology, tau‐neurofibrillary tangles, β‐amyloid deposits, ubiquitin (ubiq, and phosphorylated‐TAR DNA‐binding protein 43 (pTDP43‐positive inclusions. Discussion: A reduced number of nigral pigmented neurons in the absence of evident neurodegenerative signs in Dys brains could indicate previously unconsidered pathogenetic mechanisms of Dys such as neurodevelopmental defects in the SN.

  2. Repetitive transcranial magnetic stimulation in cervical dystonia: effect of site and repetition in a randomized pilot trial.

    Directory of Open Access Journals (Sweden)

    Sarah Pirio Richardson

    Full Text Available Dystonia is characterized by abnormal posturing due to sustained muscle contraction, which leads to pain and significant disability. New therapeutic targets are needed in this disorder. The objective of this randomized, sham-controlled, blinded exploratory study is to identify a specific motor system target for non-invasive neuromodulation and to evaluate this target in terms of safety and tolerability in the cervical dystonia (CD population. Eight CD subjects were given 15-minute sessions of low-frequency (0.2 Hz repetitive transcranial magnetic stimulation (rTMS over the primary motor cortex (MC, dorsal premotor cortex (dPM, supplementary motor area (SMA, anterior cingulate cortex (ACC and a sham condition with each session separated by at least two days. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS score was rated in a blinded fashion immediately pre- and post-intervention. Secondary outcomes included physiology and tolerability ratings. The mean change in TWSTRS severity score by site was 0.25 ± 1.7 (ACC, -2.9 ± 3.4 (dPM, -3.0 ± 4.8 (MC, -0.5 ± 1.1 (SHAM, and -1.5 ± 3.2 (SMA with negative numbers indicating improvement in symptom control. TWSTRS scores decreased from Session 1 (15.1 ± 5.1 to Session 5 (11.0 ± 7.6. The treatment was tolerable and safe. Physiology data were acquired on 6 of 8 subjects and showed no change over time. These results suggest rTMS can modulate CD symptoms. Both dPM and MC are areas to be targeted in further rTMS studies. The improvement in TWSTRS scores over time with multiple rTMS sessions deserves further evaluation.

  3. AbobotulinumtoxinA in the management of cervical dystonia in the United Kingdom: a budget impact analysis

    Directory of Open Access Journals (Sweden)

    Abogunrin S

    2015-09-01

    Full Text Available Seye Abogunrin,1 Sarah Brand,2 Kamal Desai,3 Jerome Dinet,4 Sylvie Gabriel,5 Timothy Harrower61Meta Research, Evidera, London, UK; 2Health Economics, Evidera, Bethesda, MD, USA; 3Health Economics, Evidera, London, UK; 4Health Economics and Outcomes Research (Global, 5Global Market Access and Pricing, Ipsen Pharma, Boulogne-Billancourt, France; 6Royal Devon and Exeter NHS Foundation Trust, Exeter, UKBackground: Cervical dystonia (CD can be effectively managed by a combination of botulinum neurotoxin A (BoNT-A and conventional therapy (skeletal muscle relaxants and rehabilitative therapy, but the costs of different interventions in the UK vary.Methods: A budget impact model was developed from the UK payer perspective with a 5-year time horizon to evaluate the effects of changing market shares of abobotulinumtoxinA, nabotulinumtoxinA, and incobotulinumtoxinA, and best supportive care from the UK payer perspective. Epidemiological and resource use data were retrieved from the published literature and clinical expert opinion. Deterministic sensitivity analyses were performed to determine the parameters most influential on the budgetary findings under base case assumptions.Results: Under base case assumptions, an increased uptake of abobotulinumtoxinA showed an accumulated savings of £2,250,992 by year 5. Treatment per patient per year with onabotulinumtoxinA and incobotulinumtoxinA costs more when compared to treatment with abobotulinumtoxinA. One-way sensitivity analyses showed that the prevalence of CD, dose per injection of each of the BoNT-As, and time to reinjection of incobotulinumtoxinA and abobotulinumtoxinA influenced the base case findings most.Conclusion: There is potential for cost savings associated with the greater use of abobotulinumtoxinA rather than other BoNT-A treatments, permitting more patients to benefit more from effective BoNT-A treatment with a fixed budget. Keywords: cervical dystonia, torticollis, botulinum toxin A, budget

  4. Fluorine-18-fluorodeoxyglucose positron emission tomography (PET) brain imaging patterns in patients with suspected X-linked dystonia parkinsonism (study in progress)

    International Nuclear Information System (INIS)

    Santiago, J.F.Y.; Fugoso, L.; Evidente, V.G.H.

    2004-01-01

    Objective: X-linked dystonia-parkinsonism (XDP or Lubag) is an adult-onset dystonia syndrome that afflicts mostly Filipino men from the island of Panay, Philippines.It starts focally and becomes generalized or multifocal after the first five years. Parkinsonism is commonly encountered as the initial symptom before the onset of dystonia. Patients may manifest a wide spectrum of movement disorders, including myoclonus, chorea, akathisia, ballism and myorhythmia. Diagnosis is based on the clinical presentation, and the establishment of an x-linked recessive pattern of inheritance and maternal roots from the Panay Islands. Neuroimaging in advanced cases have demonstrated caudate and putaminal atrophy. Previous studies using PET have shown selective reduction in normalized striatal glucose metabolism. The purpose of this study is to describe the FDG distribution using PET imaging in Filipino patients with suspected or confirmed Lubag in various stages of their disease in order to determine if FDG-PET can be used in the initial diagnosis and staging of the disease. Methods and results: All patients presenting to the Movement Disorders Center of St. Lukes Medical Center with dystonia and Parkinsonism symptoms with X-linked recessive inheritance pattern and maternal roots traceable to the Panay Islands were sent for a Brain FDG PET Scan. Seven male patients with various movement disorders (dysarthria, face dystonia, Parkinsonism, hemibalismus, involuntary movements and rest tremors) with duration of symptoms from 1 to 5 years underwent a PET scan. All patients had non visualized bilateral putamen, four had hypometabolic caudate nuclei, one had intense (hypermetabolic) caudate nuclei. CT scan and MRI did not show any findings which may explain the movement disorder symptoms. More patients are being collected and gene typing is planned for some patients. Conclusions: This small series of patients demonstrate that patients with the phenotypic characteristics of X

  5. Influence of arm positioning on tomographic thallium-201 myocardial perfusion imaging and the effect of attenuation correction

    International Nuclear Information System (INIS)

    Prvulovich, E.M.; Jarritt, P.H.; Vorontsova, E.; Bomanji, J.B.; Ell, P.J.

    2000-01-01

    Lateral attenuation in single-photon emission tomography (SPET) myocardial perfusion imaging (MPI) has been attributed to the left arm if it is held by the patient's side during data acquisition. As a result MPI data are conventionally acquired with the arms held above the head. The aims of this study were to determine the effect of imaging arms down on reconstructed tomographic images depicting regional myocardial thallium-201 distribution and to assess whether attenuation-corrected (AC) myocardial perfusion images acquired arms down could replace uncorrected (NC) images acquired arms up for routine clinical service. Twenty-eight patients referred for routine MPI underwent sequential 180 emission/transmission imaging for attenuation correction using an L-shaped dual-headed gamma camera (GE Optima) fitted with two gadolinium-153 scanning line sources. Delay data were acquired twice: once supine with the arms up and then supine with the arms down. Detector radius of rotation (ROR) for arms up and arms-down studies was recorded. For each data set, count density was measured in 17 segments of a polar plot and segmental uptake expressed relative to study maximum. Oblique images were assessed qualitatively by two observers blinded to study type for tracer distribution and overall quality. Transmission maps were assessed for truncation. Mean detector ROR was 190 mm for arms-up studies and 232 mm for arms-down studies (P 201 Tl distribution, particularly anterolaterally. There is lateral undercorrection in approximately 10% of AC arms-down studies, possibly because of attenuation map truncation. Image quality is reduced in about one-third of AC arms-down studies compared with NC arms-up studies. These data suggest that this attenuation correction method is not sufficiently robust to allow routine acquisition of MPI data with the arms down. (orig.)

  6. Head, eye and arm coordination in table tennis.

    Science.gov (United States)

    Rodrigues, Sérgio T; Vickers, Joan N; Williams, A Mark

    2002-03-01

    The aim of this study was to determine the role of head, eye and arm movements during the execution of a table tennis forehand stroke. Three-dimensional kinematic analysis of line-of-gaze, arm and ball was used to describe visual and motor behaviour. Skilled and less skilled participants returned the ball to cued right or left target areas under three levels of temporal constraint: pre-, early- and late-cue conditions. In the pre- and early-cue conditions, both high and low skill participants tracked the ball early in flight and kept gaze stable on a location in advance of the ball before ball-bat contact. Skilled participants demonstrated an earlier onset of ball tracking and recorded higher performance accuracy than less skilled counterparts. The manipulation of cue condition showed the limits of adaptation to maintain accuracy on the target. Participants were able to accommodate the constraints imposed by the early-cue condition by using a shorter quiet eye duration, earlier quiet eye offset and reduced arm velocity at contact. In the late-cue condition, modifications to gaze, head and arm movements were not sufficient to preserve accuracy. The findings highlight the functional coupling between perception and action during time-constrained, goal-directed actions.

  7. Myxoma of the Left Ventricle

    Science.gov (United States)

    Novoa, José; Delgado, Antonio; Alonso, Ana

    2014-01-01

    This report concerns a 69-year-old woman who presented with an asymptomatic myxoma in the left ventricle. The tumor was successfully excised. We provide a very brief review of 72 other published cases of surgically treated left ventricular myxoma. PMID:25120392

  8. Left ventricular hypertrophy in athletes.

    Science.gov (United States)

    Douglas, P S; O'Toole, M L; Katz, S E; Ginsburg, G S; Hiller, W D; Laird, R H

    1997-11-15

    Left ventricular wall thickness >1.3 cm, septal-to-posterior wall ratios > 1.5, diastolic left ventricular size >6.0 cm, and eccentric or concentric remodeling are rare in athletes. Values outside of these cutoffs in an athlete of any age probably represent a pathologic state.

  9. The Left-Handed Writer.

    Science.gov (United States)

    Bloodsworth, James Gaston

    Contrary to the beliefs of many, right-handedness is not a single factor existing in almost all people, with a few exceptions termed left-handed: neither extreme exists independently of the other. During the first 4 years of life there is a period of fluctuation between right and left-handed dominance. Statistics and findings vary in determining…

  10. Two Lefts in Latin America?

    DEFF Research Database (Denmark)

    Christensen, Steen Fryba

    In this working paper I list five researchers' categorizations of the Latin American left in power (april 2006) in a schematic form. The most important criteria for the categorizations are given.......In this working paper I list five researchers' categorizations of the Latin American left in power (april 2006) in a schematic form. The most important criteria for the categorizations are given....

  11. A Giant Left Atrial Myxoma

    Directory of Open Access Journals (Sweden)

    Medhat F. Zaher

    2014-01-01

    Full Text Available Atrial myxomas are the most common primary cardiac tumors. Patients with left atrial myxomas generally present with mechanical obstruction of blood flow, systemic embolization, and constitutional symptoms. We present a case of an unusually large left atrial myxoma discovered incidentally in a patient with longstanding dyspnea being managed as bronchial asthma.

  12. Taxation, stateness and armed groups

    DEFF Research Database (Denmark)

    Hoffmann, Kasper; Vlassenroot, Koen; Marchais, Gauthier

    2016-01-01

    This contribution analyses the role of taxation in the constitution of authority in the conflict-ridden eastern Democratic Republic of the Congo, where a multitude of authorities alternately compete and collude over the right to extract resources. Taxation ranges from simple plunder, to protection...... rackets, to the material reciprocation of the recognition of rights. Focusing on the taxation practices of armed groups, the article argues that taxation is at the core of armed groups’ production of public authority and citizenship, and that their modes of taxation are based on long-standing registers...

  13. Pilomatrixoma of the Arm: A Rare Case with Cytologic Diagnosis

    Directory of Open Access Journals (Sweden)

    Ruchika Gupta

    2012-01-01

    Full Text Available Pilomatrixoma, a benign skin appendageal tumor, is seen commonly in head and neck. Occurrence of pilomatrixoma in the upper extremities is not common and has been reported infrequently in the available literature. Only a few cases with preoperative aspiration cytology have been reported in the literature. A five-year-old girl underwent fine needle aspiration (FNA of a firm subcutaneous nodule on the lateral aspect of left arm. FNA smears showed scattered and few fragments of round to oval cells along with multinucleated giant cells. Few shadow cells were seen. A cytologic impression of pilomatrixoma was rendered, which was confirmed on histopathology. Pilomatrixoma, a common skin appendageal tumor in head and neck region, should be considered in the cytologic differential diagnoses of subcutaneous masses even in unusual locations like arm. The varied cytomorphology should be remembered to avoid misdiagnosis.

  14. Segregation of chromosome arms in growing and non-growing Escherichia coli cells

    Directory of Open Access Journals (Sweden)

    Conrad L. Woldringh

    2015-05-01

    Full Text Available In slow-growing Escherichia coli cells the chromosome is organized with its left (L and right (R arms lying separated in opposite halves of the nucleoid and with the origin (O in-between, giving the pattern L-O-R. During replication one of the arms has to pass the other to obtain the same organization in the daughter cells: L-O-R L-O-R. To determine the movement of arms during segregation six strains were constructed carrying three coloured loci: the left and right arms were labeled with red and cyan fluorescent-proteins, respectively, on loci symmetrically positioned at different distances from the central origin, which was labeled with green-fluorescent protein. In non-replicating cells with the predominant spot pattern L-O-R, initiation of replication first resulted in a L-O-O-R pattern, soon changing to O-L-R-O. After replication of the arms the predominant spot patterns were, L-O-R L-O-R, O-R-L R-O-L or O-L-R L-O-R indicating that one or both arms passed an origin and the other arm. To study the driving force for these movements cell growth was inhibited with rifampicin allowing run-off DNA synthesis. Similar spot patterns were obtained in growing and non-growing cells, indicating that the movement of arms is not a growth-sustained process, but may result from DNA synthesis itself. The distances between loci on different arms (LR-distances and between duplicated loci (LL- or RR-distances as a function of their distance from the origin, indicate that in slow-growing cells DNA is organized according to the so-called sausage model and not accordingto the doughnut model.

  15. Galvanic vestibular stimulation improves arm position sense in spatial neglect: a sham-stimulation-controlled study.

    Science.gov (United States)

    Schmidt, Lena; Keller, Ingo; Utz, Kathrin S; Artinger, Frank; Stumpf, Oliver; Kerkhoff, Georg

    2013-01-01

    Disturbed arm position sense (APS) is a frequent and debilitating condition in patients with hemiparesis after stroke. Patients with neglect, in particular, show a significantly impaired contralesional APS. Currently, there is no treatment available for this disorder. Galvanic vestibular stimulation (GVS) may ameliorate neglect and extinction by activating the thalamocortical network. The present study aimed to investigate the immediate effects and aftereffects (AEs; 20 minutes) of subsensory, bipolar GVS (M = 0.6 mA current intensity) on APS in stroke patients with versus without spatial neglect and matched healthy controls. A novel optoelectronic arm position device was developed, enabling the precise measurement of the horizontal APS of both arms. In all, 10 healthy controls, 7 patients with left-sided hemiparesis and left-spatial neglect, and 15 patients with left hemiparesis but without neglect were tested. Horizontal APS was measured separately for both forearms under 4 experimental conditions (baseline without GVS, left-cathodal/right-anodal GVS, right-cathodal/left-anodal GVS, sham GVS). The immediate effects during GVS and the AEs 20 minutes after termination of GVS were examined. Patients with neglect showed an impaired contralateral APS in contrast to patients without neglect and healthy controls. Left-cathodal/right-anodal GVS improved left APS significantly, which further improved into the normal range 20 minutes poststimulation. GVS had no effect in patients without neglect but right-cathodal/left-anodal GVS worsened left APS in healthy participants significantly. GVS can significantly improve the impaired APS in neglect. Multisession GVS can be tested to induce enduring therapeutic effects.

  16. Left-handedness and health

    Directory of Open Access Journals (Sweden)

    Milenković Sanja

    2010-01-01

    Full Text Available Hand dominance is defined as a proneness to use one hand rather than another in performing the majority of activities and this is the most obvious example of cerebral lateralization and an exclusive human characteristic. Left-handed people comprise 6-14% of the total population, while in Serbia, this percentage is 5-10%, moving from undeveloped to developed environments, where a socio-cultural pressure is less present. There is no agreement between investigators who in fact may be considered a left-handed person, about the percentage of left-handers in the population and about the etiology of left-handedness. In the scientific literature left-handedness has been related to health disorders (spine deformities, immunological disorders, migraine, neurosis, depressive psychosis, schizophrenia, insomnia, homosexuality, diabetes mellitus, arterial hypertension, sleep apnea, enuresis nocturna and Down Syndrome, developmental disorders (autism, dislexia and sttutering and traumatism. The most reliable scientific evidences have been published about the relationship between left-handedness and spinal deformities in school children in puberty and with traumatism in general population. The controversy of other results in up-to-now investigations of health aspects of left-handedness may partly be explained by a scientific disagreement whether writing with the left hand is a sufficient criterium for left-handedness, or is it necessary to investigate other parameters for laterality assessment. Explanation of health aspects of left-handedness is dominantly based on Geschwind-Galaburda model about 'anomalous' cerebral domination, as a consequence of hormonal disbalance. .

  17. Left ventricular wall stress compendium.

    Science.gov (United States)

    Zhong, L; Ghista, D N; Tan, R S

    2012-01-01

    Left ventricular (LV) wall stress has intrigued scientists and cardiologists since the time of Lame and Laplace in 1800s. The left ventricle is an intriguing organ structure, whose intrinsic design enables it to fill and contract. The development of wall stress is intriguing to cardiologists and biomedical engineers. The role of left ventricle wall stress in cardiac perfusion and pumping as well as in cardiac pathophysiology is a relatively unexplored phenomenon. But even for us to assess this role, we first need accurate determination of in vivo wall stress. However, at this point, 150 years after Lame estimated left ventricle wall stress using the elasticity theory, we are still in the exploratory stage of (i) developing left ventricle models that properly represent left ventricle anatomy and physiology and (ii) obtaining data on left ventricle dynamics. In this paper, we are responding to the need for a comprehensive survey of left ventricle wall stress models, their mechanics, stress computation and results. We have provided herein a compendium of major type of wall stress models: thin-wall models based on the Laplace law, thick-wall shell models, elasticity theory model, thick-wall large deformation models and finite element models. We have compared the mean stress values of these models as well as the variation of stress across the wall. All of the thin-wall and thick-wall shell models are based on idealised ellipsoidal and spherical geometries. However, the elasticity model's shape can vary through the cycle, to simulate the more ellipsoidal shape of the left ventricle in the systolic phase. The finite element models have more representative geometries, but are generally based on animal data, which limits their medical relevance. This paper can enable readers to obtain a comprehensive perspective of left ventricle wall stress models, of how to employ them to determine wall stresses, and be cognizant of the assumptions involved in the use of specific models.

  18. Dosimetric variations in permanent breast seed implant due to patient arm position.

    Science.gov (United States)

    Watt, Elizabeth; Husain, Siraj; Sia, Michael; Brown, Derek; Long, Karen; Meyer, Tyler

    2015-01-01

    Planning and delivery for permanent breast seed implant (PBSI) are performed with the ipsilateral arm raised; however, changes in implant geometry can be expected because of healing and anatomical motion as the patient resumes her daily activities. The purpose of this study is to quantify the effect of ipsilateral arm position on postplan dosimetry. Twelve patients treated at the Tom Baker Cancer Centre were included in this study. Patients underwent two postimplant CT scans on the day of implant (Day 0) and two scans approximately 8 weeks later (Day 60). One scan at each time was taken with the ipsilateral arm raised, recreating the planning scan position, and the other with both arms down in a relaxed position beside the body, recreating a more realistic postimplant arm position. Postplans were completed on all four scans using deformable image registration (MIM Maestro). On the Day 0 scan, the V200 for the evaluation planning target volume was significantly increased in the arm-down position compared with the arm-up position. Lung, rib, and chest wall dose were significantly reduced at both time points. Left anterior descending coronary artery, heart, and skin dose showed no significant differences at either time point. Although some dosimetric indices show significant differences between the arm-up and arm-down positions, the magnitude of these differences is small and the values remain indicative of implant quality. Despite the delivery of the majority of dose with the arm down, it is reasonable to use CT scans taken in the arm-up position for postplanning. Copyright © 2015 American Brachytherapy Society. Published by Elsevier Inc. All rights reserved.

  19. FRACTURE DISLOCATION OF LEFT SHOULDER: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Mazharuddin Ali

    2015-05-01

    Full Text Available Many systemic disorders present with orthopedic manifestations. A 40 year old male patient was brought in with pain and inability to move his left arm after he regained consciousness. The patient is a known case of Epilepsy since 2 years and had two episodes of seizure like activity and not on any medication. The diagnosis was fracture posterior dislocation of left shoulder following Grand mal Epilepsy. It was a 3 part fracture dislocation of left shoulder emergency closed reduction and 5 percutaneous K wires fixation was done under general anaesthe sia and universal shoulder immobilizer was applied to immobilize the left shoulder in flexion, adduction and internal rotation. Treatment for epilepsy was continued. After four weeks K wires were removed. With physiotherapy, patient regained full range of movements by 8 weeks. We conclude, that a fracture posterior dislocation of left shoulder as a presenting feature should arouse us to evaluate the cause, in our case it was convulsion. Closed reduction and internal fixation with percutaneous k - wires reduces infection rate and hospital stay. Patient recovered well without any complications

  20. A planar left-handed metamaterial based on electric resonators

    International Nuclear Information System (INIS)

    Chen Chun-Hui; Qu Shao-Bo; Wang Jia-Fu; Ma Hua; Wang Xin-Hua; Xu Zhuo

    2011-01-01

    A planar left-handed metamaterial(LHM) composed of electric resonator pairs is presented in this paper. Theoretical analysis, an equivalent circuit model and simulated results of a wedge sample show that this material exhibits a negative refraction pass-band around 9.6GHz under normal-incidence and is insensitive to a change in incidence angle. Furthermore, as the angle between the arm of the electric resonators and the strip connecting the arms increases, the frequency range of the pass-band shifts downwards. Consequently, this LHM guarantees a relatively stable torlerence of errors when it is practically fabricated. Moreover, it is a candidate for designing multi-band LHM through combining the resonator pairs with different angles. (electromagnetism, optics, acoustics, heat transfer, classical mechanics, and fluid dynamics)

  1. Neck and arm pain syndromes

    DEFF Research Database (Denmark)

    de las Peñas, César Fernández; Cleland, Joshua; Huijbregts, Peter

    The first of its kind, Neck and Arm Pain Syndromes is a comprehensive evidence- and clinical-based book, covering research-based diagnosis, prognosis and management of neuromusculoskeletal pathologies and dysfunctions of the upper quadrant, including joint, muscle, myofascial and neural tissue ap...

  2. Nuclear physicist, arms control advocate

    CERN Multimedia

    Chang, K

    2002-01-01

    Victor F. Weisskopf, a nuclear physicist who worked on the Manhattan Project to build the first atomic bomb in World War II and later became an ardent advocate of arms control, died Monday at his home in Newton, MA, USA. He was 93 (1 page).

  3. How Computers are Arming biology!

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 23; Issue 1. In-vitro to In-silico - How Computers are Arming biology! Geetha Sugumaran Sushila Rajagopal. Face to Face Volume 23 Issue 1 January 2018 pp 83-102. Fulltext. Click here to view fulltext PDF. Permanent link:

  4. Dystonia of the legs induced by walking or passive movement of the big toe in a patient with cerebellar ectopia and syringomyelia.

    Science.gov (United States)

    Berardelli, A; Thompson, P D; Day, B L; Rothwell, J C; O'Brien, M D; Marsden, C D

    1986-01-01

    A 45-year-old man with dystonia of the legs was found to have cerebellar ectopia and syringomyelia. Both walking and passive movements of the big toes evoked dystonic postures of the legs. Electrophysiologic studies suggested that the dystonic movements were reflex in origin. We propose that the cervical spinal cord lesion, involving propriospinal pathways, resulted in an abnormal response of spinal interneurons to peripheral stimuli.

  5. The physical, social and emotional aspects are the most affected in the quality of life of the patients with cervical dystonia

    Directory of Open Access Journals (Sweden)

    Roberta Weber Werle

    2014-06-01

    Full Text Available Objective : Describe the functional, clinical and quality of life (QoL profiles in patients with cervical dystonia (CD with residual effect or without effect of botulinum toxin (BTX, as well as verify the existence of correlation between the level of motor impairment, pain and QoL. Method : Seventy patients were assessed through the Craniocervical dystonia questionnaire-24 (CDQ-24 and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS. Results : The greater the disability, pain and severity of dystonia, the worse the QoL (p<0.0001. Greater severity relates to greater disability (p<0.0001. Pain was present in 84% of the sample, being source of disability in 41%. The most frequent complaints were: difficulty in keeping up with professional and personal demands (74.3%, feeling uneasy in public (72.9%, hindered by pain (68.6%, depressed, annoyed or bitter (47.1%, lonely or isolated (32.9%. Conclusion : The physical, social and emotional aspects are the most affected in the QoL of these patients.

  6. Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.

    Science.gov (United States)

    Elze, Markus C; Gimeno, Hortensia; Tustin, Kylee; Baker, Lesley; Lumsden, Daniel E; Hutton, Jane L; Lin, Jean-Pierre S-M

    2016-02-01

    Hyperkinetic movement disorders (HMDs) can be assessed using impairment-based scales or functional classifications. The Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) evaluates dystonia impairment, but may not reflect functional ability. The Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) are widely used in the literature on cerebral palsy to classify functional ability, but not in childhood movement disorders. We explore the concordance of these three functional scales in a large sample of paediatric HMDs and the impact of dystonia severity on these scales. Children with HMDs (n=161; median age 10y 3mo, range 2y 6mo-21y) were assessed using the BFM-M, GMFCS, MACS, and CFCS from 2007 to 2013. This cross-sectional study contrasts the information provided by these scales. All four scales were strongly associated (all Spearman's rank correlation coefficient rs >0.72, pdisorders including cerebral palsy can be effectively evaluated using these scales. © 2015 Mac Keith Press.

  7. Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

    Directory of Open Access Journals (Sweden)

    Clecio Godeiro-Junior

    2008-12-01

    Full Text Available BACKGROUND: The association between Dystonia and Parkinson's disease (PD has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7 in the MSA group, 62.5% (n=5 in the PSP group, and 100% (n=8 in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50% and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.INTRODUÇÃO: A associação de distonia e doença de Parkinson (DP já foi bem estabelecida, principalmente para distonia focal em pé ou mão. Entretanto, há poucos dados quanto a distonia em pacientes com parkinsonismo atípico. OBJETIVO: Avaliar a freqüência e o padrão da distonia em um

  8. Left main percutaneous coronary intervention.

    Science.gov (United States)

    Teirstein, Paul S; Price, Matthew J

    2012-10-23

    The introduction of drug-eluting stents and advances in catheter techniques have led to increasing acceptance of percutaneous coronary intervention (PCI) as a viable alternative to coronary artery bypass graft (CABG) for unprotected left main disease. Current guidelines state that it is reasonable to consider unprotected left main PCI in patients with low to intermediate anatomic complexity who are at increased surgical risk. Data from randomized trials involving patients who are candidates for either treatment strategy provide novel insight into the relative safety and efficacy of PCI for this lesion subset. Herein, we review the current data comparing PCI with CABG for left main disease, summarize recent guideline recommendations, and provide an update on technical considerations that may optimize clinical outcomes in left main PCI. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  9. Left bundle-branch block

    DEFF Research Database (Denmark)

    Risum, Niels; Strauss, David; Sogaard, Peter

    2013-01-01

    The relationship between myocardial electrical activation by electrocardiogram (ECG) and mechanical contraction by echocardiography in left bundle-branch block (LBBB) has never been clearly demonstrated. New strict criteria for LBBB based on a fundamental understanding of physiology have recently...

  10. Dabigatran for left ventricular thrombus

    Directory of Open Access Journals (Sweden)

    Satishkumar Kolekar

    2015-09-01

    Dabigatran is a reversible direct thrombin inhibitor and currently approved for the prevention of thromboembolic episodes in non-valvar atrial fibrillation. This case demonstrates possible thrombolytic properties of dabigatran in resolution of left ventricular thrombus.

  11. Apraxia in left-handers.

    Science.gov (United States)

    Goldenberg, Georg

    2013-08-01

    In typical right-handed patients both apraxia and aphasia are caused by damage to the left hemisphere, which also controls the dominant right hand. In left-handed subjects the lateralities of language and of control of the dominant hand can dissociate. This permits disentangling the association of apraxia with aphasia from that with handedness. Pantomime of tool use, actual tool use and imitation of meaningless hand and finger postures were examined in 50 consecutive left-handed subjects with unilateral hemisphere lesions. There were three aphasic patients with pervasive apraxia caused by left-sided lesions. As the dominant hand is controlled by the right hemisphere, they constitute dissociations of apraxia from handedness. Conversely there were also three patients with pervasive apraxia caused by right brain lesions without aphasia. They constitute dissociations of apraxia from aphasia. Across the whole group of patients dissociations from handedness and from aphasia were observed for all manifestations of apraxia, but their frequency depended on the type of apraxia. Defective pantomime and defective tool use occurred rarely without aphasia, whereas defective imitation of hand, but not finger, postures was more frequent after right than left brain damage. The higher incidence of defective imitation of hand postures in right brain damage was mainly due to patients who had also hemi-neglect. This interaction alerts to the possibility that the association of right hemisphere damage with apraxia has to do with spatial aptitudes of the right hemisphere rather than with its control of the dominant left hand. Comparison with data from right-handed patients showed no differences between the severity of apraxia for imitation of hand or finger postures, but impairment on pantomime of tool use was milder in apraxic left-handers than in apraxic right-handers. This alleviation of the severity of apraxia corresponded with a similar alleviation of the severity of aphasia as

  12. Left ventricular apical ballooning syndrome

    International Nuclear Information System (INIS)

    Rahman, N.; Tai, J.; Soofi, A.

    2007-01-01

    The transient left ventricular apical ballooning syndrome, also known as Takotsubo cardiomyopathy, is characterized by transient left ventricular dysfunction in the absence of obstructive epicardial coronary disease. Although the syndrome has been reported in Japan since 1990, it is rare in other regions. Rapid recognition of the syndrome can modify the diagnostic and therapeutic attitude i.e. avoiding thrombolysis and performing catheterization in the acute phase. (author)

  13. Controlling robot arm with the mind

    National Science Foundation

    2017-05-31

    Full Text Available Research test subjects at the University of Minnesota who were fitted with a specialized noninvasive brain cap were able to move a robotic arm just by imagining moving their own arms.

  14. Low-cost robotic arm control

    Science.gov (United States)

    Rogers, John R.

    2008-04-01

    A low-cost robotic arm and controller system is presented. The controller is a desktop model of the robotic arm with the same degrees of freedom whose joints are equipped with sensors. Manipulating the controller by hand causes the robotic arm to mimic the movement in maser-slave fashion. The system takes advantage of the low cost and wide availability of hobby radio control components and uses a low-cost, easy-to-program microprocessor. The system is implemented with a video camera on the robotic arm, and the arm is mounted on an unmanned omnidirectional vehicle inspection robot. With a camera on the end of a robot arm, the vehicle inspection system can reach difficult to-access regions of the vehicle underbody. Learning to manipulate the robot arm with this controller is faster than learning with a traditional joystick. Limitations of the microcontroller are discussed, and suggestions for further development of the robot arm and control are made.

  15. Left Main Coronary Artery Aneurysm

    Directory of Open Access Journals (Sweden)

    Hossein Doustkami

    2016-07-01

    Full Text Available Aneurysms of the left main coronary artery are exceedingly rare clinical entities, encountered incidentally in approximately 0.1% of patients who undergo routine angiography. The most common cause of coronary artery aneurysms is atherosclerosis. Angiography is the gold standard for diagnosis and treatment. Depending on the severity of the coexisting coronary stenosis, patients with left main coronary artery aneurysms can be effectively managed either surgically or pharmacologically. We herein report a case of left main coronary artery aneurysm in a 72-year-old man with a prior history of hypertension presenting to our hospital because of unstable angina. The electrocardiogram showed ST-segment depression and T-wave inversion in the precordial leads. All the data of blood chemistry were normal. Echocardiography showed akinetic anterior wall, septum, and apex, mild mitral regurgitation and ejection fraction of 45%. Coronary angiography revealed a saccular aneurysm of the left main coronary artery with significant stenosis in the left anterior descending, left circumflex, and right coronary artery. The patient immediately underwent coronary artery bypass grafting and ligation of the aneurysm. At six months’ follow-up, he remained asymptomatic.

  16. Right colon cancer: Left behind.

    Science.gov (United States)

    Gervaz, P; Usel, M; Rapiti, E; Chappuis, P; Neyroud-Kaspar, I; Bouchardy, C

    2016-09-01

    Prognosis of colon cancer (CC) has steadily improved during the past three decades. This trend, however, may vary according to proximal (right) or distal (left) tumor location. We studied if improvement in survival was greater for left than for right CC. We included all CC recorded at the Geneva population-based registry between 1980 and 2006. We compared patients, tumor and treatment characteristics between left and right CC by logistic regression and compared CC specific survival by Cox models taking into account putative confounders. We also compared changes in survival between CC location in early and late years of observation. Among the 3396 CC patients, 1334 (39%) had right-sided and 2062 (61%) left-sided tumors. In the early 1980s, 5-year specific survival was identical for right and left CCs (49% vs. 48%). During the study period, a dramatic improvement in survival was observed for patients with left-sided cancers (Hazard ratio [HR]: 0.42, 95% confidence interval [CI]: 0.29-0.62, p colon cancer patients, those with right-sided lesions have by far the worse prognosis. Change of strategic management in this subgroup is warranted. Copyright © 2016 Elsevier Ltd. All rights reserved.

  17. A multiparous woman with lately diagnosed multilevel left ventricular obstruction

    International Nuclear Information System (INIS)

    Rahman, M. N.; Gul, I.; Nabi, A.

    2017-01-01

    A 56-year hypertensive, multiparous woman presented to the cardiology unit with Canadian Cardiovascular Society (CCS) class-III angina and worsening dyspnea for the past few weeks. Her clinical examination showed high blood pressure and mid-systolic crescendo-decrescendo murmur radiating to carotids. However, there was no radio-femoral delay or significant blood pressure difference between her arms. Her transthoracic echocardiography (TTE) revealed moderate aortic stenosis (AS) and mid cavity left ventricular outflow (LVO) obstruction. Left heart catheterization (LHC) showed coarctation of aorta with extensive collaterals, mid cavity LVO obstruction, and moderate AS. Thus, she was diagnosed as a case of multi-level LVO obstruction including mid cavity LVO obstruction AS and coarctation of aorta. She underwent stenting of aortic coarctation as the initial step of graded approach to her disease, and is doing well. (author)

  18. Right Aortic Arch and Kommerell's Diverticulum Repaired without Reconstruction of Aberrant Left Subclavian Artery.

    Science.gov (United States)

    Osawa, Hiroshi; Shinohara, Daisuke; Orii, Kouan; Hosaka, Shigeru; Fukuda, Shoji; Akashi, Okihiko; Furukawa, Hiroshi

    2013-01-01

    Right aortic arch with Kommerell's diverticulum is a very rare situation. Surgical treatment is recommended for symptomatic patients or asymptomatic patients with a large diverticulum. However planning the strategy of operation is difficult without a 3D imaging. We report a case of a 57-year-old man with right aortic arch, Kommerell's diverticulum, and aberrant left subclavian artery. After a 3D-CT imaging, the patient underwent descending aortic replacement without reconstruction of aberrant left subclavian artery. After operation, there was no signs or symptoms of ischemia of the left arm. If the reconstruction of the aberrant subclavian artery was too difficult, closing its orifice is an acceptable decision. It has been found advantageous because of a decrease blood loss and a shorter cardiopulmonary bypass duration. If an ischemia of the arm is noticed, additional reconstruction will have to be considered. 3D-CT imaging was very useful to have a proper orientation and plan for the operative strategy.

  19. EEG oscillatory patterns are associated with error prediction during music performance and are altered in musician's dystonia.

    Science.gov (United States)

    Ruiz, María Herrojo; Strübing, Felix; Jabusch, Hans-Christian; Altenmüller, Eckart

    2011-04-15

    Skilled performance requires the ability to monitor ongoing behavior, detect errors in advance and modify the performance accordingly. The acquisition of fast predictive mechanisms might be possible due to the extensive training characterizing expertise performance. Recent EEG studies on piano performance reported a negative event-related potential (ERP) triggered in the ACC 70 ms before performance errors (pitch errors due to incorrect keypress). This ERP component, termed pre-error related negativity (pre-ERN), was assumed to reflect processes of error detection in advance. However, some questions remained to be addressed: (i) Does the electrophysiological marker prior to errors reflect an error signal itself or is it related instead to the implementation of control mechanisms? (ii) Does the posterior frontomedial cortex (pFMC, including ACC) interact with other brain regions to implement control adjustments following motor prediction of an upcoming error? (iii) Can we gain insight into the electrophysiological correlates of error prediction and control by assessing the local neuronal synchronization and phase interaction among neuronal populations? (iv) Finally, are error detection and control mechanisms defective in pianists with musician's dystonia (MD), a focal task-specific dystonia resulting from dysfunction of the basal ganglia-thalamic-frontal circuits? Consequently, we investigated the EEG oscillatory and phase synchronization correlates of error detection and control during piano performances in healthy pianists and in a group of pianists with MD. In healthy pianists, the main outcomes were increased pre-error theta and beta band oscillations over the pFMC and 13-15 Hz phase synchronization, between the pFMC and the right lateral prefrontal cortex, which predicted corrective mechanisms. In MD patients, the pattern of phase synchronization appeared in a different frequency band (6-8 Hz) and correlated with the severity of the disorder. The present

  20. 77 FR 30875 - Armed Forces Day, 2012

    Science.gov (United States)

    2012-05-23

    ... Documents#0;#0; ] Proclamation 8823 of May 18, 2012 Armed Forces Day, 2012 By the President of the United... circumstances. On Armed Forces Day, we pay tribute to the unparalleled service of our Armed Forces and recall... the greatest force for freedom and security the world has ever known. From their earliest training to...

  1. Balancing Loads Among Robotic-Manipulator Arms

    Science.gov (United States)

    Kreutz, Kenneth K.; Lokshin, Anatole

    1990-01-01

    Paper presents rigorous mathematical approach to control of multiple robot arms simultaneously grasping one object. Mathematical development focuses on relationship between ability to control degrees of freedom of configuration and ability to control forces within grasped object and robot arms. Understanding of relationship leads to practical control schemes distributing load more equitably among all arms while grasping object with proper nondamaging forces.

  2. Armed Conflict, Gender, and Schooling

    OpenAIRE

    Buvinić, Mayra; Das Gupta, Monica; Shemyakina, Olga N.

    2014-01-01

    The impact of armed conflict on gender differentials in schooling appears to be highly context-specific, as the review of the literature and the findings from the three studies in this symposium reveal. In some settings boys' schooling is more negatively affected than that of girls. In others, the reverse is the case. Effects are largely shaped by events surrounding a conflict, pre-war gender differences in educational attainments, and education and labor market opportunities in the absence o...

  3. Dual arm master controller concept

    International Nuclear Information System (INIS)

    Kuban, D.P.; Perkins, G.S.

    1984-01-01

    The Advanced Servomanipulator (ASM) slave was designed with an anthropomorphic stance, gear/torque tube power drives, and modular construction. These features resulted in increased inertia, friction, and backlash relative to tape-driven manipulators. Studies were performed which addressed the human factors design and performance trade-offs associated with the corresponding master controller best suited for the ASM. The results of these studies, as well as the conceptual design of the dual arm master controller, are presented. 6 references, 3 figures

  4. The MVACS Robotic Arm Camera

    Science.gov (United States)

    Keller, H. U.; Hartwig, H.; Kramm, R.; Koschny, D.; Markiewicz, W. J.; Thomas, N.; Fernades, M.; Smith, P. H.; Reynolds, R.; Lemmon, M. T.; Weinberg, J.; Marcialis, R.; Tanner, R.; Boss, B. J.; Oquest, C.; Paige, D. A.

    2001-08-01

    The Robotic Arm Camera (RAC) is one of the key instruments newly developed for the Mars Volatiles and Climate Surveyor payload of the Mars Polar Lander. This lightweight instrument employs a front lens with variable focus range and takes images at distances from 11 mm (image scale 1:1) to infinity. Color images with a resolution of better than 50 μm can be obtained to characterize the Martian soil. Spectral information of nearby objects is retrieved through illumination with blue, green, and red lamp sets. The design and performance of the camera are described in relation to the science objectives and operation. The RAC uses the same CCD detector array as the Surface Stereo Imager and shares the readout electronics with this camera. The RAC is mounted at the wrist of the Robotic Arm and can characterize the contents of the scoop, the samples of soil fed to the Thermal Evolved Gas Analyzer, the Martian surface in the vicinity of the lander, and the interior of trenches dug out by the Robotic Arm. It can also be used to take panoramic images and to retrieve stereo information with an effective baseline surpassing that of the Surface Stereo Imager by about a factor of 3.

  5. Hand-arm vibration syndrome

    Science.gov (United States)

    Shen, Shixin (Cindy); House, Ronald A.

    2017-01-01

    Abstract Objective To provide family physicians with an understanding of the epidemiology, pathogenesis, symptoms, diagnosis, and management of hand-arm vibration syndrome (HAVS), an important and common occupational disease in Canada. Sources of information A MEDLINE search was conducted for research and review articles on HAVS. A Google search was conducted to obtain gray literature relevant to the Canadian context. Additional references were obtained from the articles identified. Main message Hand-arm vibration syndrome is a prevalent occupational disease affecting workers in multiple industries in which vibrating tools are used. However, it is underdiagnosed in Canada. It has 3 components—vascular, in the form of secondary Raynaud phenomenon; sensorineural; and musculoskeletal. Hand-arm vibration syndrome in its more advanced stages contributes to substantial disability and poor quality of life. Its diagnosis requires careful history taking, in particular occupational history, physical examination, laboratory tests to rule out alternative diagnoses, and referral to an occupational medicine specialist for additional investigations. Management involves reduction of vibration exposure, avoidance of cold conditions, smoking cessation, and medication. Conclusion To ensure timely diagnosis of HAVS and improve prognosis and quality of life, family physicians should be aware of this common occupational disease and be able to elicit the relevant occupational history, refer patients to occupational medicine clinics, and appropriately initiate compensation claims. PMID:28292796

  6. Touching my left elbow: the anatomical structure of the body affects the illusion of self-touch.

    Science.gov (United States)

    White, Rebekah C; Aimola Davies, Anne M

    2011-01-01

    A self-touch paradigm is used to create the illusion that one is touching one's own left elbow when one is actually touching the examiner's arm. Our new self-touch illusion is sensitive to the anatomical structure of the body: you can touch your left elbow with your right index finger but not with your left index finger. Illusion onset was faster and illusion ratings were higher when participants administered touch using the plausible right index finger compared with the implausible left index finger.

  7. Aphasia following left thalamic hemorrhage

    International Nuclear Information System (INIS)

    Makishita, Hideo; Miyasaka, Motomaro; Tanizaki, Yoshio; Yanagisawa, Nobuo; Sugishita, Morihiro.

    1984-01-01

    We reported 7 patients with left thalamic hemorrhage in the chronic stage (from 1.5 months to 4.5 months), and described language disorders examined by Western Aphasia Battery (WAB) and measured cerebral blood flow by single photon emission CT. Examination of language by WAB revealed 4 aphasics out of 7 cases, and 3 patients had no language deficit. The patient with Wernicke's aphasia showed low density area only in the left posterior thalamus in X-ray CT, and revealed severe low blood flow area extending to left temporal lobe in emission CT. In the case with transcortical sensory aphasia, although X-ray CT showed no obvious low density area, emission CT revealed moderate low flow area in watershed area that involved the territory between posterior cerebral and middle cerebral arteries in the left temporooccipital region in addition to low blood flow at the left thalamus. In one of the two patients classified as anomic aphasia, whose score of repetition (8.4) was higher than that of comprehension (7.4), emission CT showed slight low flow area at the temporo-occipital region similarly as the case with transcortical sensory aphasia. In another case with anomic aphasia, scored 9 on both fluensy and comprehension subtests and 10 on repetition, there was wide low density area all over the left thalamus and midline shift to the right in X-ray CT, and emission CT showed severe low blood flow in the same region spreading widely toward the cerebral surface. On the other hand, in all of the 3 patients without aphasia, emission CT showed low flow region restricted to the left thalamus. (J.P.N.)

  8. Distonia virtual por infarto talâmico posterolateral ventral: relato de caso Virtual dystonia due to a posteroventrolateral thalamic infarct: case report

    Directory of Open Access Journals (Sweden)

    Ricardo De Oliveira-Souza

    1996-09-01

    Full Text Available O presente trabalho relata o caso de um diabético hipertenso acometido de uma forma fragmentária da síndrome de Dejerine-Roussy e "sensação de câimbra dolorosa" nos artelhos quando se deitava ou removia o pé do contato com o chão. A propriocepção estava acentuadamente comprometida nos artelhos que abrigavam a câimbra. Seu relato se adequava ao padrão das distonias fixas, não transcrita, todavia, como deformidade motora visível, razão pela qual designamos o fenômeno de "distonia virtual". A RNM mostrou imagem de infarto do núcleo lateral posterior do tálamo (VPL e degeneração walleríana de projeções VPL-corticais. O SPECT, exclusão do tálamo e hipoperfusão do córtex parietal dorsal ipsilateral e dos núcleos da base bilateralmente. Sugerimos que, em decorrência da interrupção de aferentes propríoceptivos no tálamo, o córtex somestésico (S-I originou atividade topograficamente ordenada, que emergiu sob a forma de distonia como representação mental subjetiva. Sugerimos que a distonia virtual represente o análogo somestésico das alucinoses unimodais, cujo exemplo mais conhecido é a síndrome de Bonnet.Behaviors, actions and movements may take place as purely mental events, as in the obsessions of obsessive-compulsive disorder, phantom limbs or sensory tics. In the present paper we report on the case of a 43-year-old diabetic hypertensive man who developed an incomplete form of the Dejerine-Roussy syndrome. Whenever he lay down or withdrew the leg from the ground, he experienced the illusion that the left intermediate toes painfully twisted and mounted each other. Conversely, as he stood up or firm pressure was artificially exerted against the sole, there was a dramatic relief from the "cramp" whose illusory character could he be certain of only by looking down at the foot. By passively moving his toes into the referred position we realized that the experienced deformity conformed to the pattern of a fixed

  9. High precision detector robot arm system

    Energy Technology Data Exchange (ETDEWEB)

    Shu, Deming; Chu, Yong

    2017-01-31

    A method and high precision robot arm system are provided, for example, for X-ray nanodiffraction with an X-ray nanoprobe. The robot arm system includes duo-vertical-stages and a kinematic linkage system. A two-dimensional (2D) vertical plane ultra-precision robot arm supporting an X-ray detector provides positioning and manipulating of the X-ray detector. A vertical support for the 2D vertical plane robot arm includes spaced apart rails respectively engaging a first bearing structure and a second bearing structure carried by the 2D vertical plane robot arm.

  10. Kinematics of an infinitely flexible robot arm

    Science.gov (United States)

    Choi, P. J.; Rice, J. A.; Cesarone, J. C.

    1993-06-01

    An effort is made to define a command-and-control algorithm for a flexible robot arm design which maximizes flexibility through its large number of degrees-of-freedom, in the manner of a 'tentacle'. Algorithms including both forward and inverse kinematics are developed for commanding smooth arm motions in the presence of obstacles, on the basis of Catmull-Rom splines and local radius-of-curvature commands to discrete actuators along the length of the arm. Sample trajectories are examined, and a spline-curve algorithm is successfully applied for this arm configuration; the accuracy and collision-avoidance of the arm are verified by means of a simulation.

  11. Octopus movement: push right, go left.

    Science.gov (United States)

    Hooper, Scott L

    2015-05-04

    Octopus arms have essentially infinite degrees of freedom. New research shows that, despite this potentially great complexity, to locomote octopuses simply elongate one or more arms, thus pushing the body in the opposite direction, and do so without activating the arms in an ordered pattern. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. To Arm or Not to Arm: The Case Against Arming Vietnam and the Philippines

    Science.gov (United States)

    2015-04-13

    India and the United States. While militarily weaker than China , Vietnam has asserted its claims most forcefully, and has a lengthy history of... China Sea is Unprecedented,” Business Insider India , http://www.businessinsider .in/ Chinas -Escalation-In-The-South- China -Sea-Is-Unprecedented...and separatist elements, other South China Sea rivals that are arming, and an India that increasingly appears to lean toward the United States. As

  13. Providing an imputation algorithm for missing values of longitudinal data using Cuckoo search algorithm: A case study on cervical dystonia.

    Science.gov (United States)

    Golabpour, Amin; Etminani, Kobra; Doosti, Hassan; Miri, Hamid Heidarian; Ghanbari, Reza

    2017-06-01

    Missing values in data are found in a large number of studies in the field of medical sciences, especially longitudinal ones, in which repeated measurements are taken from each person during the study. In this regard, several statistical endeavors have been performed on the concepts, issues, and theoretical methods during the past few decades. Herein, we focused on the missing data related to patients excluded from longitudinal studies. To this end, two statistical parameters of similarity and correlation coefficient were employed. In addition, metaheuristic algorithms were applied to achieve an optimal solution. The selected metaheuristic algorithm, which has a great search functionality, was the Cuckoo search algorithm. Profiles of subjects with cervical dystonia (CD) were used to evaluate the proposed model after applying missingness. It was concluded that the algorithm used in this study had a higher accuracy (98.48%), compared with similar approaches. Concomitant use of similar parameters and correlation coefficients led to a significant increase in accuracy of missing data imputation.

  14. Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

    Directory of Open Access Journals (Sweden)

    Ioanna A Armata

    Full Text Available BACKGROUND: Mutations in the GCH1 gene are associated with childhood onset, dopa-responsive dystonia (DRD. Correct diagnosis of DRD is crucial, given the potential for complete recovery once treated with L-dopa. The majority of DRD associated mutations lie within the coding region of the GCH1 gene, but three additional single nucleotide sequence substitutions have been reported within the 5' untranslated (5'UTR region of the mRNA. The biologic significance of these 5'UTR GCH1 sequence substitutions has not been analyzed. METHODOLOGY/PRINCIPAL FINDINGS: Luciferase reporter assays, quantitative real time PCR and RNA decay assays, combined with bioinformatics, revealed a pathogenic 5'UTR GCH1 substitution. The +142C>T single nucleotide 5'UTR substitution that segregates with affected status in DRD patients, substantially attenuates translation without altering RNA expression levels or stability. The +142C>T substitution disrupts translation most likely by creating an upstream initiation start codon (uAUG and an upstream open reading frame (uORF. CONCLUSIONS/SIGNIFICANCE: This is the first GCH1 regulatory substitution reported to act at a post-transcriptional level, increasing the list of genetic diseases caused by abnormal translation and reaffirming the importance of investigating potential regulatory substitutions in genetic diseases.

  15. Asian over-representation among patients with hemifacial spasm compared to patients with cranial-cervical dystonia.

    Science.gov (United States)

    Wu, Yuncheng; Davidson, Anthony L; Pan, Tianhong; Jankovic, Joseph

    2010-11-15

    Hemifacial spasm (HFS) is a common movement disorder, but its prevalence in different populations has not been elucidated. We reviewed all patients with HFS currently followed at the Baylor College of Medicine Movement Disorders Clinic and compared their demographic and clinical data with a control group of patients with cranial-cervical dystonia (CD). In contrast to patients with CD (N=145, mean age 48.64±13.61 years), of whom 117 (80.69%) were Caucasians, 13 (8.97%) Hispanic, 10 (6.90%) African-American, and 5 (3.45%) were of Asian origin, there were 81 (61.36%) Caucasians, 24 (18.18%) Hispanic, 13 (9.85%) African-Americans, and 14 (10.61%) Asians in the HFS group (N=132, mean age 49.33±13.25). Although there was no statistical difference in the age and gender distribution between the two groups, the frequency of Asians in HFS group was 3.1 times higher than that in CD group (Pmovement disorder. Copyright © 2010 Elsevier B.V. All rights reserved.

  16. The Asteroid Redirect Mission (ARM)

    Science.gov (United States)

    Abell, Paul; Gates, Michele; Johnson, Lindley; Chodas, Paul; Mazanek, Dan; Reeves, David; Ticker, Ronald

    2016-07-01

    To achieve its long-term goal of sending humans to Mars, the National Aeronautics and Space Administration (NASA) plans to proceed in a series of incrementally more complex human spaceflight missions. Today, human flight experience extends only to Low-Earth Orbit (LEO), and should problems arise during a mission, the crew can return to Earth in a matter of minutes to hours. The next logical step for human spaceflight is to gain flight experience in the vicinity of the Moon. These cis-lunar missions provide a "proving ground" for the testing of systems and operations while still accommodating an emergency return path to the Earth that would last only several days. Cis-lunar mission experience will be essential for more ambitious human missions beyond the Earth-Moon system, which will require weeks, months, or even years of transit time. In addition, NASA has been given a Grand Challenge to find all asteroid threats to human populations and know what to do about them. Obtaining knowledge of asteroid physical properties combined with performing technology demonstrations for planetary defense provide much needed information to address the issue of future asteroid impacts on Earth. Hence the combined objectives of human exploration and planetary defense give a rationale for the Asteroid Re-direct Mission (ARM). Mission Description: NASA's ARM consists of two mission segments: 1) the Asteroid Redirect Robotic Mission (ARRM), the first robotic mission to visit a large (greater than ~100 m diameter) near-Earth asteroid (NEA), collect a multi-ton boulder from its surface along with regolith samples, demonstrate a planetary defense technique, and return the asteroidal material to a stable orbit around the Moon; and 2) the Asteroid Redirect Crewed Mission (ARCM), in which astronauts will take the Orion capsule to rendezvous and dock with the robotic vehicle, conduct multiple extravehicular activities to explore the boulder, and return to Earth with samples. NASA's proposed

  17. Dual arm master controller development

    International Nuclear Information System (INIS)

    Kuban, D.P.; Perkins, G.S.

    1985-01-01

    The advanced servomanipulator (ASM) slave was designed with an anthropomorphic stance, gear/torque tube power drives, and modular construction. These features resulted in increased inertia, friction, and backlash relative to tape-driven manipulators. Studies were performed which addressed the human factors design and performance trade-offs associated with the corresponding master controller best suited for the ASM. The results of these studies, as well as the conceptual design of the dual arm master controller, are presented. This work was performed as part of the Consolidated Fuel Reprocessing Program at the Oak Ridge National Laboratory. 5 refs., 7 figs., 1 tab

  18. Unilateral Asterixis in Arm and Leg Caused by Internal Capsula Stroke

    Directory of Open Access Journals (Sweden)

    Katharina Feil

    2018-01-01

    Full Text Available We report an unusual clinical manifestation of ischemic stroke with acute right-sided asterixis affecting the arm as well as the leg due to a lesion in the left posterior limb of the internal capsula. After treatment with intravenous thrombolysis the patient made a good recovery. Notably, in this case unilateral asterixis affected the arm as well as the leg, resulting in postural and gait instability. In addition, damage in the basal ganglia-thalamo-cortical network, as in our patient, has to be distinguished from other supratentorial causes of acute asterixis like thalamic or frontal lobe lesions linked to the cerebello-brainstem-thalamo-frontal lobe circuits.

  19. Left Activism, Succour and Selfhood

    DEFF Research Database (Denmark)

    Hughes, Celia Penelope

    2014-01-01

    an interchange of motherhood, domesticity, far-left politics, and close female friendship. The article will show how the women's epistolary friendship offers intimate insight into female self-fashioning at a breakthrough social and political moment in 1970s Britain. As they reflected on some of the key political...

  20. Arms control and the rule of law

    International Nuclear Information System (INIS)

    Tanzman, E.A.

    1995-01-01

    Many who speak of the end of the Cold War emphasize the warming of international relations when they speak of the momentous consequences of this event. According to this image, the half century since Trinity has been a period of sparse international communication during which the Eastern and Western blocs hibernated in their isolated dens of security alliances. Yet it is equally valid to consider the implications of the end of the war footing that has underlain the policies of all of the major military powers during the last fifty years. While meaningful international dialogue was in a state of relative lethargy during much of this period, the military establishments of the Great Powers were actively engaged in using as much force as possible in their efforts to control world affairs, short of triggering a nuclear holocaust. International discourse, at least in English, was rife with such military images as appeasement, containment, crisis stability, and tripwires. From the military posture of the U.S. and Russia a tense peace ironically emerged, but the terms by which decisions were made about controlling weapons of mass destruction (i.e., nuclear, chemical, and biological weapons) were the terms of war. The thesis of this paper is that the end of the Cold War marks a shift away from reliance on military might toward an international commitment to control weapons of mass destruction through the rule of law developed by John Rawls. The progression of agreements during this century to limit weapons of mass destruction testifies to this new development. A review of arms control agreements that the U.S. is a part of show clear growth of the rule of law as the world has left the Cold War

  1. Arms control and the rule of law

    Energy Technology Data Exchange (ETDEWEB)

    Tanzman, E.A.

    1995-03-01

    Many who speak of the end of the Cold War emphasize the warming of international relations when they speak of the momentous consequences of this event. According to this image, the half century since Trinity has been a period of sparse international communication during which the Eastern and Western blocs hibernated in their isolated dens of security alliances. Yet it is equally valid to consider the implications of the end of the war footing that has underlain the policies of all of the major military powers during the last fifty years. While meaningful international dialogue was in a state of relative lethargy during much of this period, the military establishments of the Great Powers were actively engaged in using as much force as possible in their efforts to control world affairs, short of triggering a nuclear holocaust. International discourse, at least in English, was rife with such military images as appeasement, containment, crisis stability, and tripwires. From the military posture of the U.S. and Russia a tense peace ironically emerged, but the terms by which decisions were made about controlling weapons of mass destruction (i.e., nuclear, chemical, and biological weapons) were the terms of war. The thesis of this paper is that the end of the Cold War marks a shift away from reliance on military might toward an international commitment to control weapons of mass destruction through the rule of law developed by John Rawls. The progression of agreements during this century to limit weapons of mass destruction testifies to this new development. A review of arms control agreements that the U.S. is a part of show clear growth of the rule of law as the world has left the Cold War.

  2. Left ventricular diastolic performance of left ventricular hypertrophy

    Energy Technology Data Exchange (ETDEWEB)

    Ikezono, Tohru; Ozaki, Masaharu; Yamagishi, Takashi; Shimizu, Tatsuro; Furutani, Yuji; Kusukawa, Reizo

    1987-02-01

    To study left ventricular diastolic performance in different forms of left ventricular hypertrophy, ECG gated cardiac blood pool scan was performed in 11 patients with hypertrophic nonobstructive cardiomyopathy (HCM) and in 19 patients with hypertension (HT), and left ventricular volume curve (LVVC) was analyzed and compared with those of 13 normal subjects (N). Ejection fraction (EF) and early filling volume ratio (the ratio of volume increment of 100 msec later than the zero point in the first derivative of LVVC to the end diastolic volume) (%EFV) were computed from LVVC. Peak ejection rate (PER) and peak filling rate (PFR) were obtained from the first derivative of LVVC. Peak ejection acceleration (PEA) and peak filling acceleration (PFA) were calculated from the second derivative of LVVC. EF, PER and PEA did not show any difference between these 3 groups. PFR was lower in HT (2.6 +- 0.5) compared with those in HCM (3.0 +- 0.5) (p < 0.05) and in N (3.4 +- 0.5) (p < 0.001), but the %EFV in HCM (4.9 +- 1.8) was lower than those in HT (6.9 +- 1.9) (p < 0.01) and in N (11.4 +- 1.4) (p < 0.001). Moreover, PFA in HCM (27.9 +- 7.2) was increased than those in HT (20.2 +- 5.4) (p < 0.01) with no differences between HCM and N (29.4 +- 8.1). Significant correlation was observed between PFR and PFA (Y = 0.06X + 1.4. r = 0.856. p < 0.001). These result indicate that, in HCM, reduced increase in early left ventricular volume is compensated by a greater filling acceleration. In contrast, there is no compensation by filling acceleration in HT.

  3. Efficacy of Botulinum toxin type A in treatment of different forms of focal dystonias in the Serbian population: Experience of the Botulinum Toxin Outpatients Department

    Directory of Open Access Journals (Sweden)

    Tomić Aleksandra

    2015-01-01

    Full Text Available Background/Aim. Botulinum toxin (BTX irreversibly inhibits presynaptic acetylcholine release with subsequent relaxation of abnormally contracting muscles. It is an effective and well tolerated treatment with long-term benefit in a variety of movement disorders and other neurological and non-neurological disturbances. The aim of our study was to present our experience with BTX type A in treatment of different forms of focal dystonias. Мethods. А hundred of patients with different focal dystonias (spastic torticollis, blepharospasm and graphospasm from the Botulinum Toxin Outpatients Department, Clinic for Neurology, Clinical Center of Serbia, were included in the study. All the patients were examined and rated at baseline visit prior to BTX application and on the following visit, after 3-4 months, using self-assessment improvement questionnaire and standardized rating scales. Results. The improvement of ≥ 50% was presented in 68.2% of all (199 the analyzed applications. Independent predictors of good response to the therapy (improvement ≥ 50% were male sex (p = 0.011, the presence of sensory trick (p = 0.013 and the total number of BTX applications (p = 0.002. The patients with spastic torticollis and blepharospasm showed a statistically significantly better BTX effect (improvement 57.3 ± 27.5% and 54.1 ± 28.3%, respectively than the graphospasm group (26.7 ± 25.6%. Most of the patients did not have therapy complications (81.4% and 72% in two applications. Side effects in the remaining patients (muscle weakness, dysphagia, ptosis, double vision, neck weakness and lacrimal dysfunction lasted for 28.3 ± 18.6 days after the first treatment and 32.5 ± 36.2 days after the second one. Conclusion. BTX is safe and highly effective in long-term treatment of patients with different forms of focal dystonia, with only mild and well-tolerated side-effects. [Projekat Ministarstva nauke Republike Srbije, br. 175090

  4. SMC Progressively Aligns Chromosomal Arms in Caulobacter crescentus but Is Antagonized by Convergent Transcription

    Directory of Open Access Journals (Sweden)

    Ngat T. Tran

    2017-08-01

    Full Text Available The structural maintenance of chromosomes (SMC complex plays an important role in chromosome organization and segregation in most living organisms. In Caulobacter crescentus, SMC is required to align the left and the right arms of the chromosome that run in parallel down the long axis of the cell. However, the mechanism of SMC-mediated alignment of chromosomal arms remains elusive. Here, using genome-wide methods and microscopy of single cells, we show that Caulobacter SMC is recruited to the centromeric parS site and that SMC-mediated arm alignment depends on the chromosome-partitioning protein ParB. We provide evidence that SMC likely tethers the parS-proximal regions of the chromosomal arms together, promoting arm alignment. Furthermore, we show that highly transcribed genes near parS that are oriented against SMC translocation disrupt arm alignment, suggesting that head-on transcription interferes with SMC translocation. Our results demonstrate a tight interdependence of bacterial chromosome organization and global patterns of transcription.

  5. Influence of the prosthetic arm length (palatal position) of zygomatic implants upon patient satisfaction

    Science.gov (United States)

    Pellicer-Chover, Hilario; Cervera-Ballester, Juan; Peñarrocha-Oltra, David; Bagán, Leticia; Peñarrocha-Diago, María

    2016-01-01

    Background To assess the influence of the prosthetic arm length (palatal position) of zygomatic implants upon patient comfort and stability, speech, functionality and overall satisfaction. Material and Methods A retrospective clinical study was made of patients subjected to rehabilitation of atrophic maxilla with complete maxillary implant-supported fixed prostheses involving a minimum of two zygomatic implants (one on each side) in conjunction with premaxillary implants, and with 12 months of follow-up after implant loading. Subjects used a VAS to score general satisfaction, comfort and stability, speech and functionality, and the results were analyzed in relation to the prosthetic arm length of the zygomatic implants 12 months after prosthetic delivery. Results Twenty-two patients participated in the study, receiving 22 prostheses anchored on 148 implants (44 were zygomatic and 94 were conventional implants). The mean right and left prosthetic arm length was 5.9±2.4 mm and 6.1±2.7 mm, respectively, with no statistically significant differences between them (p=0.576). The mean scores referred to comfort/retention, speech, functionality and overall satisfaction were high - no correlation being found between prosthetic arm length and patient satisfaction (p=0.815). Conclusions No relationship could be identified between prosthetic arm length (palatal position) and patient satisfaction. Key words:Zygomatic implants, patient satisfaction, zygomatic prosthesis, prosthetic arm length. PMID:26946206

  6. Increasing cognitive load attenuates right arm swing in healthy human walking

    Science.gov (United States)

    Killeen, Tim; Easthope, Christopher S.; Filli, Linard; Lőrincz, Lilla; Schrafl-Altermatt, Miriam; Brugger, Peter; Linnebank, Michael; Curt, Armin; Zörner, Björn; Bolliger, Marc

    2017-01-01

    Human arm swing looks and feels highly automated, yet it is increasingly apparent that higher centres, including the cortex, are involved in many aspects of locomotor control. The addition of a cognitive task increases arm swing asymmetry during walking, but the characteristics and mechanism of this asymmetry are unclear. We hypothesized that this effect is lateralized and a Stroop word-colour naming task-primarily involving left hemisphere structures-would reduce right arm swing only. We recorded gait in 83 healthy subjects aged 18-80 walking normally on a treadmill and while performing a congruent and incongruent Stroop task. The primary measure of arm swing asymmetry-an index based on both three-dimensional wrist trajectories in which positive values indicate proportionally smaller movements on the right-increased significantly under dual-task conditions in those aged 40-59 and further still in the over-60s, driven by reduced right arm flexion. Right arm swing attenuation appears to be the norm in humans performing a locomotor-cognitive dual-task, confirming a prominent role of the brain in locomotor behaviour. Women under 60 are surprisingly resistant to this effect, revealing unexpected gender differences atop the hierarchical chain of locomotor control.

  7. Neural control of rhythmic arm movements.

    Science.gov (United States)

    Williamson, Matthew M.

    1998-10-01

    In this paper we present an approach to robot arm control based on exploiting the dynamical properties of a simple neural network oscillator circuit coupled to the joints of an arm. The entrainment and input/output properties of the oscillators are used to perform a variety of tasks with the same architecture, without any modeling of the arm or its environment. The approach is implemented on two real robot arms, and has been used to tune into the resonant frequency of pendulums, perform multi-joint coordinated motion by turning cranks, and exploit the dynamics of a 'Slinky' toy to coordinate the motion of two arms. By exploiting the coupling between the physical arm and the neural oscillator, a range of complex behaviors can be achieved with a very simple system.

  8. Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster

    Directory of Open Access Journals (Sweden)

    Noriko Wakabayashi-Ito

    2015-07-01

    Full Text Available Dystonia represents the third most common movement disorder in humans with over 20 genetic loci identified. TOR1A (DYT1, the gene responsible for the most common primary hereditary dystonia, encodes torsinA, an AAA ATPase family protein. Most cases of DYT1 dystonia are caused by a 3 bp (ΔGAG deletion that results in the loss of a glutamic acid residue (ΔE302/303 in the carboxyl terminal region of torsinA. This torsinAΔE mutant protein has been speculated to act in a dominant-negative manner to decrease activity of wild type torsinA. Drosophila melanogaster has a single torsin-related gene, dtorsin. Null mutants of dtorsin exhibited locomotion defects in third instar larvae. Levels of dopamine and GTP cyclohydrolase (GTPCH proteins were severely reduced in dtorsin-null brains. Further, the locomotion defect was rescued by the expression of human torsinA or feeding with dopamine. Here, we demonstrate that human torsinAΔE dominantly inhibited locomotion in larvae and adults when expressed in neurons using a pan-neuronal promoter Elav. Dopamine and tetrahydrobiopterin (BH4 levels were significantly reduced in larval brains and the expression level of GTPCH protein was severely impaired in adult and larval brains. When human torsinA and torsinAΔE were co-expressed in neurons in dtorsin-null larvae and adults, the locomotion rates and the expression levels of GTPCH protein were severely reduced. These results support the hypothesis that torsinAΔE inhibits wild type torsinA activity. Similarly, neuronal expression of a Drosophila DtorsinΔE equivalent mutation dominantly inhibited larval locomotion and GTPCH protein expression. These results indicate that both torsinAΔE and DtorsinΔE act in a dominant-negative manner. We also demonstrate that Dtorsin regulates GTPCH expression at the post-transcriptional level. This Drosophila model of DYT1 dystonia provides an important tool for studying the differences in the molecular function between the

  9. The technique of lessons of health jogging and running at special educational department of students with vegetative-vascular dystonia complicated by sight pathology.

    Directory of Open Access Journals (Sweden)

    Gatsko O.V.

    2011-08-01

    Full Text Available The article deals with original methodology of health jogging and running. 175 students participated in experiment. Adaptive possibilities of cardiovascular system and changes in physical ability of students are assessed in the research. Index dynamics of physical state is determined in the paper. The research focuses on the fact that repetitive exercisers with aerobics alongside adjusted exercises caused the rise in health condition of students with vegetative-vascular dystonia. It is established that such use of running and jogging in the special sturdy department's program of physical exercisers can materially correct arterial pressure and improve students' feeling of feet.

  10. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

    2012-01-01

    The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na+/K+-ATPases, and we discuss their relevance to the complex...

  11. Star distribution in the Orion spiral arm

    International Nuclear Information System (INIS)

    Basharina, T.S.; Pavlovskaya, E.D.; Filippova, A.A.

    1985-01-01

    The structure of the Orion spiral arm is studied by numerical experiments, assuming that in each direction considered the star distribution along the line of sight is a combination of two Gaussian laws. The corresponding parameters are evaluated for four Milky Way fields; the bimodal laws now fit the observations by the chi 2 criterion. In the Orion arm the line-of-sight star densities follow asymmetric curves, steeper at the outer edge of the arm

  12. Introduction to Reading and Visualizing ARM Data

    Energy Technology Data Exchange (ETDEWEB)

    Mather, James [Pacific Northwest National Laboratory

    2014-02-18

    Atmospheric Radiation Measurement (ARM) Program standard data format is NetCDF 3 (Network Common Data Form). The object of this tutorial is to provide a basic introduction to NetCDF with an emphasis on aspects of the ARM application of NetCDF. The goal is to provide basic instructions for reading and visualizing ARM NetCDF data with the expectation that these examples can then be applied to more complex applications.

  13. Preventing Interstate Armed Conflict : whose responsibility?

    OpenAIRE

    Otunba, Ganiyu

    2010-01-01

    This is a study of interstate armed conflict prevention. The concept of conflict, armed conflict and conflict prevention is defined and explained in order to be able to investigate if there is any single institution saddled with the responsibility of preventing interstate armed conflict and also to verify if adequate efforts are been put in this area which is of importance to mankind. The relationship between conflict prevention, conflict management and conflict resolution is also discussed s...

  14. Standing "the Watches" with Armed UAVs

    National Research Council Canada - National Science Library

    McCulloch, Francis

    2002-01-01

    ...). Specifically, the writer argues that the intelligent use and support of armed UAVs can replace selected missions currently being conducted in Operations Northern Watch and Southern Watch, reducing...

  15. Atmospheric Radiation Measurement Climate Research (ARM)

    Data.gov (United States)

    Federal Laboratory Consortium — With heavily instrumented field sites around the globe, the ARM Climate Research Facility provides the world's most comprehensive outdoor laboratory and data archive...

  16. Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

    Science.gov (United States)

    Zaki, M S; Issa, M Y; Elbendary, H M; El-Karaksy, H; Hosny, H; Ghobrial, C; El Safty, A; El-Hennawy, A; Oraby, A; Selim, L; Abdel-Hamid, M S

    2017-11-28

    Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism characterized by hypermanganesemia, polycythemia, early-onset dystonia, and liver cirrhosis (HMDPC). To date, only 14 families from various ethnic groups have been reported. Here, we describe 10 patients from 7 unrelated Egyptian families with HMDPC. Markedly elevated blood Mn levels, the characteristic basal ganglia hyperintensity on T1-weighted images, and variable degrees of extrapyramidal manifestations with or without liver disease were cardinal features in all patients. Eight patients presented with striking early diseased onset (≤2 years). Unexpectedly, early hepatic involvement before the neurological regression was noted in 3 patients. Mutational analysis of SLC30A10 gene revealed 6 novel homozygous mutations (c.77T > C (p.Leu26Pro), c.90C > G (p.Tyr30*), c.119A > C (p.Asp40Ala), c.122_124delCCT (p.Ser41del), c.780_782delCAT (p.Iso260del) and c.957 + 1G > C). Treatment using 2,3 dimercaptosuccinic acid as a manganese chelating agent showed satisfactory results with improvement of biochemical markers, hepatic manifestations and relative amelioration of the neurological symptoms. Our findings present a large cohort of patients with HMDPC from same ethnic group. The majority of our patients showed severe and early presentation with clear phenotypic variability among sibship. Moreover, we extend the phenotypic and mutational spectrum and emphasize the importance of early diagnosis and treatment of this potentially fatal disorder. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Producing The New Regressive Left

    DEFF Research Database (Denmark)

    Crone, Christine

    This thesis is the first comprehensive research work conducted on the Beirut based TV station, an important representative of the post-2011 generation of Arab satellite news media. The launch of al-Mayadeen in June 2012 was closely linked to the political developments across the Arab world...... members, this thesis investigates a growing political trend and ideological discourse in the Arab world that I have called The New Regressive Left. On the premise that a media outlet can function as a forum for ideology production, the thesis argues that an analysis of this material can help to trace...... the contexture of The New Regressive Left. If the first part of the thesis lays out the theoretical approach and draws the contextual framework, through an exploration of the surrounding Arab media-and ideoscapes, the second part is an analytical investigation of the discourse that permeates the programmes aired...

  18. Injerto libre braquial medial Free medial arm graft

    Directory of Open Access Journals (Sweden)

    P. Martos Díaz

    2007-12-01

    Full Text Available Introducción. Entre las reconstrucciones de defectos titulares de cabeza y cuello, el injerto libre microvascularizado braquial medial no ha adquirido mucha popularidad debido a las variaciones anatómicas que se reflejan en la vascularización de éste. Nuestro objetivo es realizar una descripción de la anatomía y técnica quirúrgica, así como una revisión de la literatura describiendo las ventajas y desventajas de este tipo de injerto. Material y método. Presentamos el caso de una paciente con carcinoma epidermoide de mucosa yugal izquierda con afectación ganglionar ipsilateral. Se procedió a su resección con márgenes más disección cervical funcional. La reconstrucción del defecto se llevó a cabo mediante un injerto libre microvascularizado braquial medial de brazo izquierdo. Discusión. Pensamos que el injerto libre braquial medial de brazo se trata de una opción más segura a la hora de la reconstrucción de defectos cervicofaciales, aportando una serie de ventajas entre las que destacan: no sacrificio de una arteria terminal, cierre primario de la zona donante, mínimo defecto estético, y poseer una piel fina, elástica y sin vello.Introduction. Free medial microvascularized arm grafts have not become very popular for the reconstruction of head and neck defects due to anatomic variations in their vascularization. Our objective was to describe the anatomy and surgical technique and to review the literature on the advantages and disadvantages of free medial arm grafts. Material and methods. We report the case of a patient with squamous cell carcinoma of the left jugal mucosa with same-side lymph node involvement. The tumor was resected with margins and a functional cervical dissection was performed. The defect was reconstructed using a free medial microvascularized graft from the left arm. Discussion. We believe that free medial arm grafts are a safer option for the reconstruction of cervicofacial defects and that they offer

  19. ICRESH-ARMS 2015 Conference

    CERN Document Server

    Ahmadi, Alireza; Verma, Ajit; Varde, Prabhakar

    2016-01-01

    Containing selected papers from the ICRESH-ARMS 2015 conference in Lulea, Sweden, collected by editors with years of experiences in Reliability and maintenance modeling, risk assessment, and asset management, this work maximizes reader insights into the current trends in Reliability, Availability, Maintainability and Safety (RAMS) and Risk Management. Featuring a comprehensive analysis of the significance of the role of RAMS and Risk Management in the decision making process during the various phases of design, operation, maintenance, asset management and productivity in Industrial domains, these proceedings discuss key issues and challenges in the operation, maintenance and risk management of complex engineering systems and will serve as a valuable resource for those in the field.

  20. Analyzing surface EMG signals to determine relationship between jaw imbalance and arm strength loss

    Directory of Open Access Journals (Sweden)

    Truong Quang Dang Khoa

    2012-08-01

    Full Text Available Abstract Background This study investigated the relationship between dental occlusion and arm strength; in particular, the imbalance in the jaw can cause loss in arm strength phenomenon. One of the goals of this study was to record the maximum forces that the subjects can resist against the pull-down force on their hands while biting a spacer of adjustable height on the right or left side of the jaw. Then EMG measurement was used to determine the EMG-Force relationship of the jaw, neck and arms muscles. This gave us useful insights on the arms strength loss due to the biomechanical effects of the imbalance in the jaw mechanism. Methods In this study to determine the effects of the imbalance in the jaw to the strength of the arms, we conducted experiments with a pool of 20 healthy subjects of both genders. The subjects were asked to resist a pull down force applied on the contralateral arm while biting on a firm spacer using one side of the jaw. Four different muscles – masseter muscles, deltoid muscles, bicep muscles and trapezoid muscles – were involved. Integrated EMG (iEMG and Higuchi fractal dimension (HFD were used to analyze the EMG signals. Results The results showed that (1 Imbalance in the jaw causes loss of arm strength contra-laterally; (2 The loss is approximately a linear function of the height of the spacers. Moreover, the iEMG showed the intensity of muscle activities decreased when the degrees of jaw imbalance increased (spacer thickness increased. In addition, the tendency of Higuchi fractal dimension decreased for all muscles. Conclusions This finding indicates that muscle fatigue and the decrease in muscle contraction level leads to the loss of arm strength.

  1. Cortical Spiking Network Interfaced with Virtual Musculoskeletal Arm and Robotic Arm

    Science.gov (United States)

    Dura-Bernal, Salvador; Zhou, Xianlian; Neymotin, Samuel A.; Przekwas, Andrzej; Francis, Joseph T.; Lytton, William W.

    2015-01-01

    Embedding computational models in the physical world is a critical step towards constraining their behavior and building practical applications. Here we aim to drive a realistic musculoskeletal arm model using a biomimetic cortical spiking model, and make a robot arm reproduce the same trajectories in real time. Our cortical model consisted of a 3-layered cortex, composed of several hundred spiking model-neurons, which display physiologically realistic dynamics. We interconnected the cortical model to a two-joint musculoskeletal model of a human arm, with realistic anatomical and biomechanical properties. The virtual arm received muscle excitations from the neuronal model, and fed back proprioceptive information, forming a closed-loop system. The cortical model was trained using spike timing-dependent reinforcement learning to drive the virtual arm in a 2D reaching task. Limb position was used to simultaneously control a robot arm using an improved network interface. Virtual arm muscle activations responded to motoneuron firing rates, with virtual arm muscles lengths encoded via population coding in the proprioceptive population. After training, the virtual arm performed reaching movements which were smoother and more realistic than those obtained using a simplistic arm model. This system provided access to both spiking network properties and to arm biophysical properties, including muscle forces. The use of a musculoskeletal virtual arm and the improved control system allowed the robot arm to perform movements which were smoother than those reported in our previous paper using a simplistic arm. This work provides a novel approach consisting of bidirectionally connecting a cortical model to a realistic virtual arm, and using the system output to drive a robotic arm in real time. Our techniques are applicable to the future development of brain neuroprosthetic control systems, and may enable enhanced brain-machine interfaces with the possibility for finer control of

  2. Cortical spiking network interfaced with virtual musculoskeletal arm and robotic arm

    Directory of Open Access Journals (Sweden)

    Salvador eDura-Bernal

    2015-11-01

    Full Text Available Embedding computational models in the physical world is a critical step towards constraining their behavior and building practical applications. Here we aim to drive a realistic musculoskeletal arm model using a biomimetic cortical spiking model, and make a robot arm reproduce the same trajectories in real time. Our cortical model consisted of a 3-layered cortex, composed of several hundred spiking model-neurons, which display physiologically realistic dynamics. We interconnected the cortical model to a two-joint musculoskeletal model of a human arm, with realistic anatomical and biomechanical properties. The virtual arm received muscle excitations from the neuronal model, and fed back proprioceptive information, forming a closed-loop system. The cortical model was trained using spike timing-dependent reinforcement learning to drive the virtual arm in a 2D reaching task. Limb position was used to simultaneously control a robot arm using an improved network interface. Virtual arm muscle activations responded to motoneuron firing rates, with virtual arm muscles lengths encoded via population coding in the proprioceptive population. After training, the virtual arm performed reaching movements which were smoother and more realistic than those obtained using a simplistic arm model. This system provided access to both spiking network properties and to arm biophysical properties, including muscle forces. The use of a musculoskeletal virtual arm and the improved control system allowed the robot arm to perform movements which were smoother than those reported in our previous paper using a simplistic arm.This work provides a novel approach consisting of bidirectionally connecting a cortical model to a realistic virtual arm, and using the system output to drive a robotic arm in real time. Our techniques are applicable to the future development of brain neuro-prosthetic control systems, and may enable enhanced brain-machine interfaces with the possibility

  3. THE INFLUENCE OF HANDEDNESS ON THE DISTRIBUTION OF MUSCULAR WEAKNESS OF THE ARM IN FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY

    NARCIS (Netherlands)

    BROUWER, OF; PADBERG, GW; VANDERPLOEG, RJO; RUYS, CJM; BRAND, R

    1992-01-01

    The strength of 10 muscle groups in both arms was measured using hand-held myometry to determine the influence of handedness on left-right differences of muscle strength in facioscapulohumeral muscular dystrophy (FSHD). Two groups of subjects were studied: 24 healthy volunteers (19 right-handed),

  4. Segregation of chromosome arms in growing and non-growing Escherichia coli cells

    DEFF Research Database (Denmark)

    Woldringh, Conrad L.; Hansen, Flemming G.; Vischer, Norbert O. E.

    2015-01-01

    the central origin, which was labeled with green-fluorescent protein. In non-replicating cells with the predominant spot pattern L-O-R, initiation of replication first resulted in a L-O-O-R pattern, soon changing to O-L-R-O. After replication of the arms the predominant spot patterns were, L-O-R L-O-R, O...... organization in the daughter cells: L-O-R L-O-R. To determine the movement of arms during segregation six strains were constructed carrying three colored loci: the left and right arms were labeled with red and cyan fluorescent-proteins, respectively, on loci symmetrically positioned at different distances from...

  5. Systolic left ventricular function according to left ventricular concentricity and dilatation in hypertensive patients

    DEFF Research Database (Denmark)

    Bang, Casper; Gerdts, Eva; Aurigemma, Gerard P

    2013-01-01

    Left ventricular hypertrophy [LVH, high left ventricular mass (LVM)] is traditionally classified as concentric or eccentric based on left ventricular relative wall thickness. We evaluated left ventricular systolic function in a new four-group LVH classification based on left ventricular dilatation...

  6. Sensory-Feedback Exoskeletal Arm Controller

    Science.gov (United States)

    An, Bin; Massie, Thomas H.; Vayner, Vladimir

    2004-01-01

    An electromechanical exoskeletal arm apparatus has been designed for use in controlling a remote robotic manipulator arm. The apparatus, called a force-feedback exoskeleton arm master (F-EAM) is comfortable to wear and easy to don and doff. It provides control signals from the wearer s arm to a robot arm or a computer simulator (e.g., a virtual-reality system); it also provides force and torque feedback from sensors on the robot arm or from the computer simulator to the wearer s arm. The F-EAM enables the wearer to make the robot arm gently touch objects and finely manipulate them without exerting excessive forces. The F-EAM features a lightweight design in which the motors and gear heads that generate force and torque feedback are made smaller than they ordinarily would be: this is achieved by driving the motors to power levels greater than would ordinarily be used in order to obtain higher torques, and by providing active liquid cooling of the motors to prevent overheating at the high drive levels. The F-EAM (see figure) includes an assembly that resembles a backpack and is worn like a backpack, plus an exoskeletal arm mechanism. The FEAM has five degrees of freedom (DOFs) that correspond to those of the human arm: 1. The first DOF is that of the side-to-side rotation of the upper arm about the shoulder (rotation about axis 1). The reflected torque for this DOF is provided by motor 1 via drum 1 and a planar four-bar linkage. 2. The second DOF is that of the up-and-down rotation of the arm about the shoulder. The reflected torque for this DOF is provided by motor 2 via drum 2. 3. The third DOF is that of twisting of the upper arm about its longitudinal axis. This DOF is implemented in a cable remote-center mechanism (CRCM). The reflected torque for this DOF is provided by motor 3, which drives the upper-arm cuff and the mechanism below it. A bladder inflatable by gas or liquid is placed between the cuff and the wearer s upper arm to compensate for misalignment

  7. Trying to move your unseen static arm modulates visually-evoked kinesthetic illusion.

    Directory of Open Access Journals (Sweden)

    Morgane Metral

    Full Text Available Although kinesthesia is known to largely depend on afferent inflow, recent data suggest that central signals originating from volitional control (efferent outflow could also be involved and interact with the former to build up a coherent percept. Evidence derives from both clinical and experimental observations where vision, which is of primary importance in kinesthesia, was systematically precluded. The purpose of the present experiment was to assess the role of volitional effort in kinesthesia when visual information is available. Participants (n=20 produced isometric contraction (10-20% of maximal voluntary force of their right arm while their left arm, which image was reflected in a mirror, either was passively moved into flexion/extension by a motorized manipulandum, or remained static. The contraction of the right arm was either congruent with or opposite to the passive displacements of the left arm. Results revealed that in most trials, kinesthetic illusions were visually driven, and their occurrence and intensity were modulated by whether volitional effort was congruent or not with visual signals. These results confirm the impact of volitional effort in kinesthesia and demonstrate for the first time that these signals interact with visual afferents to offer a coherent and unified percept.

  8. Limited consensus around ARM information protection practices ...

    African Journals Online (AJOL)

    Archives and Records Management (ARM) literature surrounding Information Protection (IP) has been developed in relative isolation from the IP field. As a result, it has been unclear until now whether and to what extent ARM literature and practice is consistent with or divergent from IP literature and practice. This paper ...

  9. Homosexuality in the Dutch Armed Forces 2006

    NARCIS (Netherlands)

    Anna Adolfsen; Saskia Keuzenkamp; m.m.v. Linda Mans

    2006-01-01

    Original title: Uniform uit de kast. This study looks at the attitudes of defence personnel to homosexuality. How do members of the military view homosexual colleagues? Can gays and lesbians working in the armed forces be open about their sexual preferences? Do they regard the armed forces as

  10. Teaching Undergraduates about Nuclear Arms and Strategy.

    Science.gov (United States)

    Harrison, Michael J.

    1985-01-01

    Nuclear arms education is being addressed in many academic disciplines and can be approached from many viewpoints. Rationale, ethical issues, instructional strategies, European views, and course materials are considered. A syllabus and references are also included for a course titled "Physics of Nuclear Arms and Nuclear War." (DH)

  11. 78 FR 30731 - Armed Forces Day, 2013

    Science.gov (United States)

    2013-05-22

    ... Documents#0;#0; ] Proclamation 8984 of May 17, 2013 Armed Forces Day, 2013 By the President of the United..., liberty, and the pursuit of happiness. And on Armed Forces Day, we honor those who serve bravely and... Forces. NOW, THEREFORE, I, BARACK OBAMA, President of the United States of America, and Commander in...

  12. Design of a biomimetic robotic octopus arm

    International Nuclear Information System (INIS)

    Laschi, C; Cianchetti, M; Mazzolai, B; Dario, P; Mattoli, V

    2009-01-01

    This paper reports the rationale and design of a robotic arm, as inspired by an octopus arm. The octopus arm shows peculiar features, such as the ability to bend in all directions, to produce fast elongations, and to vary its stiffness. The octopus achieves these unique motor skills, thanks to its peculiar muscular structure, named muscular hydrostat. Different muscles arranged on orthogonal planes generate an antagonistic action on each other in the muscular hydrostat, which does not change its volume during muscle contractions, and allow bending and elongation of the arm and stiffness variation. By drawing inspiration from natural skills of octopus, and by analysing the geometry and mechanics of the muscular structure of its arm, we propose the design of a robot arm consisting of an artificial muscular hydrostat structure, which is completely soft and compliant, but also able to stiffen. In this paper, we discuss the design criteria of the robotic arm and how this design and the special arrangement of its muscular structure may bring the building of a robotic arm into being, by showing the results obtained by mathematical models and prototypical mock-ups

  13. Design of a biomimetic robotic octopus arm

    Energy Technology Data Exchange (ETDEWEB)

    Laschi, C; Cianchetti, M [Advanced Robotics Technology and Systems Laboratory, Scuola Superiore Sant' Anna, Pisa (Italy); Mazzolai, B; Dario, P [Italian Institute of Technology, Genova (Italy); Mattoli, V [Centre of Research in Microengineering Laboratory, Scuola Superiore Sant' Anna, Pisa (Italy)], E-mail: cecilia.laschi@sssup.it

    2009-03-01

    This paper reports the rationale and design of a robotic arm, as inspired by an octopus arm. The octopus arm shows peculiar features, such as the ability to bend in all directions, to produce fast elongations, and to vary its stiffness. The octopus achieves these unique motor skills, thanks to its peculiar muscular structure, named muscular hydrostat. Different muscles arranged on orthogonal planes generate an antagonistic action on each other in the muscular hydrostat, which does not change its volume during muscle contractions, and allow bending and elongation of the arm and stiffness variation. By drawing inspiration from natural skills of octopus, and by analysing the geometry and mechanics of the muscular structure of its arm, we propose the design of a robot arm consisting of an artificial muscular hydrostat structure, which is completely soft and compliant, but also able to stiffen. In this paper, we discuss the design criteria of the robotic arm and how this design and the special arrangement of its muscular structure may bring the building of a robotic arm into being, by showing the results obtained by mathematical models and prototypical mock-ups.

  14. Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

    Energy Technology Data Exchange (ETDEWEB)

    Demircioglu, F. Esra; Sosa, Brian A.; Ingram, Jessica; Ploegh, Hidde L.; Schwartz, Thomas U.

    2016-08-04

    The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deletion (ΔE) at position 302/303 of TorsinA, a AAA+ ATPase that resides in the endoplasmic reticulum. While the function of TorsinA remains elusive, the ΔE mutation is known to diminish binding of two TorsinA ATPase activators: lamina-associated protein 1 (LAP1) and its paralog, luminal domain like LAP1 (LULL1). Using a nanobody as a crystallization chaperone, we obtained a 1.4 Å crystal structure of human TorsinA in complex with LULL1. This nanobody likewise stabilized the weakened TorsinAΔE-LULL1 interaction, which enabled us to solve its structure at 1.4 Å also. A comparison of these structures shows, in atomic detail, the subtle differences in activator interactions that separate the healthy from the diseased state. This information may provide a structural platform for drug development, as a small molecule that rescues TorsinAΔE could serve as a cure for primary dystonia.

  15. Picking Robot Arm Trajectory Planning Method

    Directory of Open Access Journals (Sweden)

    Zhang Zhiyong

    2014-01-01

    Full Text Available The picking robot arm is scheduled to complete picking tasks in the working space, to overcome the shaking vibration to improve the picking stability, its movement should follow specific consistence trajectory points. Usually we should give definite multiple feature picking points, map their inverse kinematics to the joint space, establish motion equation for the corresponding point in the joint space, then follow these equations motion for the interpolation on the joint so that we can meet the movement requirements. Trajectory planning is decisive significance for accuracy and stability of controlling robot arm. The key issue that picking arm complete picking task will be come true by trajectory planning, namely, robot arm track the desired trajectory. which based on kinematics and statics picking analysis in a joint space according to the requirements of picking tasks, and obtain the position and orientation for picking robot arm, study and calculate the theory of trajectory parameters timely.

  16. Rebuilding the US Health Left

    Directory of Open Access Journals (Sweden)

    Victor W. Sidel, MD

    2010-02-01

    Full Text Available With this issue Social Medicine begins a series of invited papers on the topic: “Rebuilding the US Health Left.” In this editorial we will outline our vision for this series. We undertake this project aware that our good friend and mentor, Dr. Walter Lear, one of the leading health activists of the 20th century, lies critically ill. Walter was the creator and custodian of the US Health Left Archives, a collection that is now with the University of Pennsylvania library. The collection reminds us of the important role left health care workers played in US history throughout the 20th century. They advocated for a national health program (Committee on the Costs of Medical Care, Physicians Forum, Medical Care Section/APHA, HealthPAC, Physicians for a National Health Program, National Physicians Alliance, provided international solidarity (American Soviet Medical Society, international brigades during the Spanish Civil War, Central American Solidarity Movement, Committee to Help Chilean Health Workers, Doctors for Global Health, traced the connections between disease and social class (Sigerist Circle, Spirit of 1848, APHA, fought for workers’ health (Councils for Occupational Safety and Health; Occupational Health and Safety Section, APHA participated in anti-war movements (Medical Committee for Human Rights, Physicians for Social Responsibility, International Physicians for the Prevention of Nuclear War, created new models of health care delivery (Health Cooperatives, Prepaid Health Maintenance Organizations, Community Health Centers, National Health Service Corps, Free Clinics, were central to the struggle for women’s rights (Planned Parenthood, Physicians for Reproductive Choice and Health, supported the civil rights movement both in medicine and in the broader society (National Medical Association, Medical Committee for Human Rights, played key roles in the movement for gay rights (ACT-UP, Gay & Lesbian Medical Association, Lesbian, Gay

  17. Effect of Akimbo Versus Raised Arm Positioning on Breast and Cardiopulmonary Dosimetry in Pediatric Hodgkin Lymphoma

    Directory of Open Access Journals (Sweden)

    Kyle Denniston

    2016-07-01

    Full Text Available PURPOSE: In pediatric Hodgkin lymphoma (HL, radiotherapy (RT-related late toxicities are a prime concern during treatment planning. This is the first study to examine whether arm positioning (raised versus akimbo result in differential cardiopulmonary and breast doses in patients undergoing mediastinal RT. METHODS: Two treatment plans were made for each patient (akimbo/arms-raised; treatment was per Children’s Oncology Group AHOD0031 protocol, including AP/PA fields. The anterior midline T6-T7 disc space was used as an anatomic reference of midline. Heart/lungs were contoured for each setup. For females, breasts were also contoured and nipple positions identified. Volumetric centers of contoured organs were defined and three-dimensional distances from midline were computed. Analyzed dosimetric parameters included V5 (volume receiving ≥5 Gy, V10, V15, V20, and mean dose. Statistics were performed using the Mann-Whitney test.RESULTS: Fifteen (6 female, 9 male pediatric HL patients treated with mediastinal RT were analyzed. The median lateral distance from the breast center/nipple to midline with arms akimbo was larger than that with arms raised (8.6 vs. 7.7cm left breast, p=0.04; 10.7 vs. 9.2cm left nipple, p=0.04; 8.7 vs. 7.0cm right breast, p=0.004; 9.9 vs. 7.9cm, p=0.007 right nipple. Raised arm position was associated with a median 2.8/3.0cm decrease in breast/nipple separation, respectively. There were no significant differences in craniocaudal breast/nipple position based on arm positioning (p>0.05. Increasing breast volume was correlated with larger arm position-related changes in breast/nipple separation (r=0.74, p=0.06 / r=0.85, p=0.02. Akimbo positioning lowered median breast V5, V10, V15, and mean dose (p0.05. Arm position had no significant effect on cardiopulmonary doses.CONCLUSIONS: Akimbo arm positioning may be advantageous to decrease breast doses in female pediatric HL patients undergoing mediastinal RT, especially in the

  18. Illusory movements induced by tendon vibration in right- and left-handed people.

    Science.gov (United States)

    Tidoni, Emmanuele; Fusco, Gabriele; Leonardis, Daniele; Frisoli, Antonio; Bergamasco, Massimo; Aglioti, Salvatore Maria

    2015-02-01

    Frequency-specific vibratory stimulation of peripheral tendons induces an illusion of limb movement that may be useful for restoring proprioceptive information in people with sensorimotor disability. This potential application may be limited by inter- and intra-subject variability in the susceptibility to such an illusion, which may depend on a variety of factors. To explore the influence of stimulation parameters and participants' handedness on the movement illusion, we vibrated the right and left tendon of the biceps brachii in a group of right- and left-handed people with five stimulation frequencies (from 40 to 120 Hz in step of 20 Hz). We found that all participants reported the expected illusion of elbow extension, especially after 40 and 60 Hz. Left-handers exhibited less variability in reporting the illusion compared to right-handers across the different stimulation frequencies. Moreover, the stimulation of the non-dominant arm elicited a more vivid illusion with faster onset relative to the stimulation of the dominant arm, an effect that was independent from participants' handedness. Overall, our data show that stimulation frequency, handedness and arm dominance influence the tendon vibration movement illusion. The results are discussed in reference to their relevance in linking motor awareness, improving current devices for motor ability recovery after brain or spinal damage and developing prosthetics and virtual embodiment systems.

  19. Spontaneous rupture of the left common iliac vein: management with surgical repair and endovascular stent

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Young Hwan; Lee, Sang Kwon; Ko, Sung Min; Choi, Jin Soo; Koo, Ja Hyun; Kim, Hyung Tae; Cho, Won Hyun [Keimyung University College of Medicine, Daegu (Korea, Republic of)

    2006-06-15

    We report here on a case of spontaneous rupture of the left common iliac vein that was diagnosed preoperatively with computed tomography (CT), and the patient was successfully treated with surgery and stent placement. A 60-year-old woman was referred to our emergency room because of sudden left lower abdominal pain and swelling of the left lower extremity. CT revealed a huge retroperitoneal hematoma and extrinsic compression of the left common iliac vein with acute thrombosis of the deep veins of the left lower extremity. Venous patch angioplasty was performed at the site of spontaneous rupture. After performing thrombectomy with using a Forgaty catheter, a stent was placed at the occluded segment of the left common iliac vein under C-arm fluoroscopic guidance. The follow-up CT scans taken at 10 days and 8 months after the initial examination demonstrated a venous stent with preserved luminal patency and the striking resolution of the deep vein thrombosis of the left lower extremity.

  20. CyARM: Haptic Sensing Device for Spatial Localization on Basis of Exploration by Arms

    Directory of Open Access Journals (Sweden)

    Junichi Akita

    2009-01-01

    Full Text Available We introduce a new type of perception aid device based on user's exploration action, which is named as CyARM (acronym of “Cyber Arm”. The user holds this device in her/his arm, the extension of the arm is controlled by tension in wires, which are attached to her/his body according to the distance to the object. This user interface has unique characteristics that give users the illusion of an imaginary arm that extends to existing objects. The implementations of CyARM and our two experiments to investigate the efficiency and effectiveness of CyARM are described. The results show that we could confirm that CyARM can be used to recognize the presence of an object in front of the user and to measure the relative distance to the object.