Early Illustrations of Geste Antagoniste in Cervical and Generalized Dystonia

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Broussolle, Emmanuel; Laurencin, Chloé; Bernard, Emilien; Thobois, Stéphane; Danaila, Teodor; Krack, Paul

2015-01-01

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. PMID:26417535

Dystonia.

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Morgante, Francesca; Klein, Christine

2013-10-01

The purpose of this review is to provide an update on the classification, phenomenology, pathophysiology, and treatment of dystonia. A revised definition based on the main phenomenologic features of dystonia has recently been developed in an expert consensus approach. Classification is based on two main axes: clinical features and etiology. Currently, genes have been reported for 14 types of monogenic isolated and combined dystonia. Isolated dystonia (with dystonic tremor) can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), PRKRA (DYT16), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (GCHI [DYT5], SGCE [DYT11], and ATP1A3 [DYT12], with TAF1 most likely but not yet proven to be linked to DYT3) and paroxysmal (PNKD [DYT8], PRRT2 [DYT10], and SLC2A1 [DYT18]). Recent insights from neurophysiologic studies identified functional abnormalities in two networks in dystonia: the basal ganglia-sensorimotor network and, more recently, the cerebellothalamocortical pathway. Besides the well-known lack of inhibition at different CNS levels, dystonia is specifically characterized by maladaptive plasticity in the sensorimotor cortex and loss of cortical surround inhibition. The exact role (modulatory or compensatory) of the cerebellar-cortical pathways still has to be further elucidated. In addition to botulinum toxin for focal forms, deep brain stimulation of the globus pallidus internus is increasingly recognized as an effective treatment for generalized and segmental dystonia. The revised classification and identification of new genes for different forms of dystonia, including adult-onset segmental dystonia, enable an improved diagnostic approach. Recent pathophysiologic insights have fundamentally contributed to a better understanding of the disease mechanisms and impact on treatment, such as functional neurosurgery and nonpharmacologic treatment options.

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

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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.

The clinical syndrome of primary tic disorder associated with dystonia: a large clinical series and a review of the literature.

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Damásio, Joana; Edwards, Mark J; Alonso-Canovas, Araceli; Schwingenschuh, Petra; Kägi, Georg; Bhatia, Kailash P

2011-03-01

The co-occurrence of tics and dystonia as an idiopathic condition has only rarely been reported. We report a series of patients with tics and persistent dystonia, with the aim of determining the prevalence and clinical characteristics of this syndrome. Analysis of clinical database of patients with tic disorders. From our database of 224 patients with tics, 20 had co-occurrence of tics and dystonia as a primary disorder. Six patients had Tourette's syndrome, and 2 had idiopathic chronic motor/phonic tics. Twelve of the 20 had adult onset of tics (9 with motor/phonic tics and 3 with motor tics). Dystonia was focal in 12 patients (cervical most common) and segmental in 8. A sensory geste was present in 8. Mean age of tic onset and dystonia was 28.3 ± 19.7 and 40.5 ± 15.3 years, respectively. Tics preceded dystonia in 12, dystonia preceded tics in 4, and 1 patient had simultaneous onset of tics and dystonia. In 3 patients, symptoms' sequence could not be determined. Only 8 patients required treatment for their tics. Botulinum toxin was the mainstay of dystonia treatment (16 patients), whereas 6 received trihexyphenidyl. Six patients each had depression and obsessive compulsive symptoms, and 5 had attention-deficit and hyperactivity disorder. We have further characterized the syndrome of a primary condition of tics associated with persistent focal/segmental dystonia. Apart from the presence of dystonia, our data suggest that these patients are differentiated from pure tic disorders by a later age of onset, lesser severity of tics, and lower frequency of associated features. Copyright © 2010 Movement Disorder Society.

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...

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.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias

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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 ...

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

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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.

Surgery for Dystonia and Tremor.

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Crowell, Jason L; Shah, Binit B

2016-03-01

Surgical procedures for dystonia and tremor have evolved over the past few decades, and our understanding of risk, benefit, and predictive factors has increased substantially in that time. Deep brain stimulation (DBS) is the most utilized surgical treatment for dystonia and tremor, though lesioning remains an effective option in appropriate patients. Dystonic syndromes that have shown a substantial reduction in severity secondary to DBS are isolated dystonia, including generalized, cervical, and segmental, as well as acquired dystonia such as tardive dystonia. Essential tremor is quite amenable to DBS, though the response of other forms of postural and kinetic tremor is not nearly as robust or consistent based on available evidence. Regarding targeting, DBS lead placement in the globus pallidus internus has shown marked efficacy in dystonia reduction. The subthalamic nucleus is an emerging target, and increasing evidence suggests that this may be a viable target in dystonia as well. The ventralis intermedius nucleus of the thalamus is the preferred target for essential tremor, though targeting the subthalamic zone/caudal zona incerta has shown promise and may emerge as another option in essential tremor and possibly other tremor disorders. In the carefully selected patient, DBS and lesioning procedures are relatively safe and effective for the management of dystonia and tremor.

Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome

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Idil Hanci

2018-05-01

Full Text Available Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing “stimulation off” and “stimulation on” despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS. This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

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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

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. 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. 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. 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.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias.

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Jeff L Waugh

Full Text Available 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.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.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.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.

Thalamic Volume Is Reduced in Cervical and Laryngeal Dystonias

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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

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.

Tremor in dystonia.

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Pandey, Sanjay; Sarma, Neelav

2016-08-01

Tremor has been recognized as an important clinical feature in dystonia. Tremor in dystonia may occur in the body part affected by dystonia known as dystonic tremor or unaffected body regions known as tremor associated with dystonia. The most common type of tremor seen in dystonia patients is postural and kinetic which may be mistaken for familial essential tremor. Similarly familial essential tremor patients may have associated dystonia leading to diagnostic uncertainties. The pathogenesis of tremor in dystonia remains speculative, but its neurophysiological features are similar to dystonia which helps in differentiating it from essential tremor patients. Treatment of tremor in dystonia depends upon the site of involvement. Dystonic hand tremor is treated with oral pharmacological therapy and dystonic head, jaw and voice tremor is treated with injection botulinum toxin. Neurosurgical interventions such as deep brain stimulation and lesion surgery should be an option in patients not responding to the pharmacological treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

Efficacy of Zolpidem for Dystonia: A Study Among Different Subtypes

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Miyazaki, Yoshimichi; Sako, Wataru; Asanuma, Kotaro; Izumi, Yuishin; Miki, Tetsuro; Kaji, Ryuji

2012-01-01

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 (5–20 mg) 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 two 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. PMID:22529836

Muscle selection for treatment of cervical dystonia with botulinum toxin : A systematic review

NARCIS (Netherlands)

Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be

Muscle selection for treatment of cervical dystonia with botulinum toxin - A systematic review

NARCIS (Netherlands)

Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

2012-01-01

Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be

Dopa-responsive dystonia

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Đurić Gordana

2009-01-01

Full Text Available Backgrround/Aim. Dystonia is considered to be a prolonged involuntary contractions of the muscles leading to twisting, repetitive movements or irregular postures. Etiologically, it could be classified as primary and secondary dystonia. Dopa-responsive dystonia (DRD belongs to a group of primary dystonia. The aim of this study was to detect the presence of gene GCH-I mutation in our population in patients with dopa-responsive dystonic dyskinesia and to analyze clinical specificity of the affected. Methods. Out of the group of patients with dystonia of different distribution four patients were separated whose clinical picture indicated the diagnosis of DRD. Two patients had a positive family anamnesis while the other two were sporadic. Genetic analysis was performed by the use of a standard protocol, which included PCR amplification and DNK sequencing according to the method of Senger and autoradiografy. Results. In the patients from the family DRD-1 new hetaerazygote point mutation 520G→A in 4-m exson gene GCH-I was revealed. First symptoms of the disease showed in the age of seven by the torsion of the left foot, progressively advanced and got into the evolution of numbness in the legs, aggravated gait, tending to worsen in the evening, and the therapy with levodopa (500 mg produced a dramatic effect. The second mutation in the female patient from the family DRD-2 was homozygote deletion in1-m intron gene GCH-I (IVS1-85delA. Unwilling torsion of the foot, feeling of weakness in the lower extremities (that caused falling without loss of the consciousness were clinical demonstrations of the disease. The application of levodopa (300 mg caused regression of the symptoms of the disease. Hetaerazygote deletion of adenine in the position 209 in the first exon (209del A was identificated in the patient DRD-3 with negative family anamnesis, in who in the age of ten the torsion of the foot inside occurred for the first time following by trembling of

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

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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

Dystonia Associated with Idiopathic Slow Orthostatic Tremor

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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.

Dystonia: Physical Therapy

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... Online Support Frequently Asked Questions Faces of Dystonia Physical Therapy Physical therapy may be an important component of treating ... everyday tasks, Since dystonia is a neurological disorder, physical therapy does not treat the dystonia directly but ...

Feedforward somatosensory inhibition is normal in cervical dystonia.

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Ferrè, Elisa R; Ganos, Christos; Bhatia, Kailash P; Haggard, Patrick

2015-03-01

Insufficient cortical inhibition is a key pathophysiological finding in dystonia. Subliminal sensory stimuli were reported to transiently inhibit somatosensory processing. Here we investigated whether such subliminal feedforward inhibition is reduced in patients with cervical dystonia. Sixteen cervical dystonia patients and 16 matched healthy controls performed a somatosensory detection task. We measured the drop in sensitivity to detect a threshold-level digital nerve shock when it was preceded by a subliminal conditioning shock, compared to when it was not. Subliminal conditioning shocks reduced sensitivity to threshold stimuli to a similar extent in both patients and controls, suggesting that somatosensory subliminal feedforward inhibition is normal in cervical dystonia. Somatosensory feedforward inhibition was normal in this group of cervical dystonia patients. Our results qualify previous concepts of a general dystonic deficit in sensorimotor inhibitory processing. Copyright © 2015 Elsevier Ltd. All rights reserved.

Phenomenology and classification of dystonia: a consensus update.

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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.

Oromandibular Dystonia: Demographics and Clinical Data from 240 Patients

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Linda Slaim

2018-05-01

Full Text Available Objective To report demographic data from a large cohort of patients with oromandibular dystonia (OMD. Methods This is a retrospective review of patients with OMD referred to our institution between 1989 and 2015. Demographic (age of onset, gender, and familial history of dystonia and clinical (type of OMD, associated dystonia, and etiology of dystonia data were collected from a cohort of 240 individuals. Results The mean age of onset of OMD was 51.6 years old, with a female predominance (2:1. A family history of dystonia was found in 6 patients (2.5%. One hundred and forty-nine patients (62.1% had the jaw-opening type of OMD, 48 patients (20.0% had the jaw-closing type, and 43 patients (17.9% had a mixed form of OMD. Lingual dystonia was also present in 64 (26.7% of these patients. Eighty-two patients (34.2% had a focal dystonia, 131 patients (54.6% had a segmental dystonia, and 27 patients (11.3% had a generalized dystonia. One hundred and seventy-one patients (71.3% had idiopathic OMD. Conclusion OMD is a chronic and disabling focal dystonia. Our study found a prevalence of female patients, an onset in middle age and a predominantly idiopathic etiology. Unlike other studies, jaw-opening was found to be the most frequent clinical type of OMD.

Cervical dystonia: about familial and sporadic cases in 88 patients

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Carlos Henrique F. Camargo

2014-02-01

Full Text Available Cervical dystonia (CD affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic. Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no etiological diagnosis were accepted for analysis. The age of onset of symptoms was later in patients with focal and segmental dystonia than in patients with generalized dystonia (p<0.001. The severity of symptoms was higher in patients with sporadic dystonia than in familial patients (p<0.01. Generalized cases were more severe in patients with a family history (p<0.01. Sporadic patients had higher levels of pain than familial cases (p<0.05. We expect soon to present the results of genetic analyzes of these patients.

Genetic evaluation for TOR1-A (DYT1 in Brazilian patients with dystonia

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Carlos Henrique F. Camargo

2014-10-01

Full Text Available Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1 gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized were recruited at Movement Disorders Clinic of Hospital de Clínicas of the Federal University of Paraná between June of 2008 and June of 2009. They were submitted to the clinical evaluation. DNA was extract from blood and submitted at analysis to TOR1-A mutations by PCR according standard protocols. Results Two patients had c.907GAGdel mutation on TOR1-A gene. These patients, with familial history of dystonia, started his symptoms by legs and had secondary generalization. Conclusion We can suggest that analysis for TOR1-A mutations should be performed only in patients with early onset, generalized and familial dystonia.

How Many Dystonias? Clinical Evidence.

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Albanese, Alberto

2017-01-01

Literary reports on dystonia date back to post-Medieval times. Medical reports are instead more recent. We review here the early descriptions and the historical establishment of a consensus on the clinical phenomenology and the diagnostic features of dystonia syndromes. Lumping and splitting exercises have characterized this area of knowledge, and it remains largely unclear how many dystonia types we are to count. This review describes the history leading to recognize that focal dystonia syndromes are a coherent clinical set encompassing cranial dystonia (including blepharospasm), oromandibular dystonia, spasmodic torticollis, truncal dystonia, writer's cramp, and other occupational dystonias. Papers describing features of dystonia and diagnostic criteria are critically analyzed and put into historical perspective. Issues and inconsistencies in this lumping effort are discussed, and the currently unmet needs are critically reviewed.

Research Priorities in Limb and Task-Specific Dystonias

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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

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

Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia

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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.

Prevalence, predictors, and perceived effectiveness of complementary, alternative and integrative medicine in adult-onset primary dystonia.

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Fleming, Brandy M; Schwab, Emiko L; Nouer, Simonne S; Wan, Jim Y; LeDoux, Mark S

2012-09-01

Complementary and Alternative Medicine (CAM) use is on the rise in both the US and Europe, despite questions about its safety and effectiveness, and lack of national standards. We aimed to determine the prevalence and predictors of CAM and integrative medicine use (CAM-I) and perceived effectiveness compared to the standard treatment of botulinum toxin injections in patients with adult-onset primary dystonia. This was a retrospective questionnaire study of 389 dystonia patients examining the effects age, gender, education level and number of affected anatomical regions on botulinum toxin and CAM-I use and their perceived effectiveness. 53% (208) of patients reported CAM-I use, while 90% (349) used the standard treatment (botulinum toxin), and 48% used both. Education was the only significant predictor of CAM-I use - individuals with bachelor's degrees were more likely to try CAM-I whereas those with high school diplomas were less likely. The mean effectiveness rate for botulinum toxin injections (59%) significantly exceeded that for CAM-I (28%, p effectiveness and expense of CAM-I treatments for dystonia and other neurological disorders given that CAM-I use is steadily increasing, there is great variability in what is classified as CAM-I, and the effectiveness of some modalities may be significantly less than conventional medical treatments. Copyright © 2012 Elsevier Ltd. All rights reserved.

Dystonia: Related and Differential Disorders

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... undertakes a specific action. The tremor is generally rhythmic and can vary from being only subtle to ... brain and neck imaging and blood and urine analysis. Cervical dystonia that affects adults usually occurs after ...

Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia

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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.

Genetics Home Reference: dystonia 6

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... neck, causing problems with speaking (dysarthria) and eating (dysphagia). Eyelid twitching (blepharospasm) may also occur. Involvement of ... dystonia, DYT6 type The Bachmann-Strauss Dystonia and Parkinson Foundation: What Is Dystonia? Patient Support and Advocacy ...

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

Employees with Dystonia

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... filters for the computer Situations and Solutions: A student who has dystonia affecting the eyelids was having ... not able to meet production standards due to cervical dystonia resulting in head movement and pain. JAN suggested the use of a tilt-table ...

Cerebral activation during motor imagery in complex regional pain syndrome type 1 with dystonia

NARCIS (Netherlands)

Gieteling, Esther W.; van Rijn, Monique A.; de Jong, Bauke M.; Hoogduin, Johannes M.; Renken, Remco; van Hilten, Jacobus J.; Leenders, Klaus L.

The pathogenesis of dystonia in Complex Regional Pain Syndrome type 1 (CRPS-1) is unclear. In primary dystonia, functional magnetic resonance imaging (fMRI) has revealed changes in cerebral networks during execution of movement. The aim of this study was to determine cerebral network function in

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...

Reorganization of the Human Somatosensory Cortex in Hand Dystonia

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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.

Diagnosis and treatment of pediatric onset isolated dystonia.

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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.

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

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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.

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

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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.

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.

Sensory Alterations in Patients with Isolated Idiopathic Dystonia: An Exploratory Quantitative Sensory Testing Analysis.

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Paracka, Lejla; Wegner, Florian; Blahak, Christian; Abdallat, Mahmoud; Saryyeva, Assel; Dressler, Dirk; Karst, Matthias; Krauss, Joachim K

2017-01-01

Abnormalities in the somatosensory system are increasingly being recognized in patients with dystonia. The aim of this study was to investigate whether sensory abnormalities are confined to the dystonic body segments or whether there is a wider involvement in patients with idiopathic dystonia. For this purpose, we recruited 20 patients, 8 had generalized, 5 had segmental dystonia with upper extremity involvement, and 7 had cervical dystonia. In total, there were 13 patients with upper extremity involvement. We used Quantitative Sensory Testing (QST) at the back of the hand in all patients and at the shoulder in patients with cervical dystonia. The main finding on the hand QST was impaired cold detection threshold (CDT), dynamic mechanical allodynia (DMA), and thermal sensory limen (TSL). The alterations were present on both hands, but more pronounced on the side more affected with dystonia. Patients with cervical dystonia showed a reduced CDT and hot detection threshold (HDT), enhanced TSL and DMA at the back of the hand, whereas the shoulder QST only revealed increased cold pain threshold and DMA. In summary, QST clearly shows distinct sensory abnormalities in patients with idiopathic dystonia, which may also manifest in body regions without evident dystonia. Further studies with larger groups of dystonia patients are needed to prove the consistency of these findings.

The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part II): an open-label experience with botulinum toxin-A (Dysport®) injections for oromandibular, lingual, and truncal-axial dystonias.

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Rosales, Raymond L; Ng, Arlene R; Santos, Mary Mildred Delgado-Delos; Fernandez, Hubert H

2011-01-01

While the majority of chemodenervation clinics worldwide typically use botulinum toxins for the treatment of common conditions such as blepharopsams, cervical dystonia, limb dystonia, and spasticity, the unusually high concentration of X-linked dystonia-parkinsonism (XDP) has allowed us to collect and describe our experience in the use of botulinum toxin type A (BoNT-A) on rarer dystonic patterns. BoNT-A (Dysport®) was injected in a total 109 dystonias of XDP. Our cohort included: 50 cases in the oromandibular area (jaw opening: 32 cases, jaw closing: 12 cases, and jaw deviation: 6 cases); 35 cases in the lingual area (tongue protrusion: 27 cases and tongue curling: 8 cases); and, 24 cases in the truncal-axial area (flexor: 12 cases, extensor: 7 cases, and lateral-extensor: 5 cases). Interestingly, pain, often a nonprominent symptom of dystonias, was frequently reported in 40/50 XDP cases with oromandibular dystonia and 18/24 XDP cases with truncal-axial dystonia. All BoNT-A procedures were performed under electromyography guidance. A "high potency, low dilution" BoNT-A protocol was applied for oromandibular, lingual, cranial, cervical, and distal limb dystonias; whereas for dystonias of the abdominal, paraspinal, and proximal limb muscles, a "low potency, high dilution" BoNT-A injection protocol was applied. Outcomes measures included: the global dystonia rating scale (DRS) and pain visual analog scale (VAS) reduction at week 4; duration of BoNT-A effects; and, side effect profile. The median DRS score after 4 weeks was 3 ("substantial improvement") for oromandibular and lingual dystonias and 2 ("moderate improvement") for truncal-axial dystonias. Pain reduction was significantly reduced (75%-80% in oromandibular; 30%-80% in truncal-axial dystonias). The median duration of BoNT-A effect was 16 weeks for oromandibular, 12 weeks for lingual, and 11 weeks for truncal-axial dystonias. Compared to a generally safe and well-tolerated BoNT-A injections for truncal

Cervical Dystonia (Spasmodic Torticollis)

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... Many people who have cervical dystonia also experience neck pain that can radiate into the shoulders. The disorder also can cause headaches. In some people, the pain from cervical dystonia can be exhausting and disabling. Causes In ...

Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia.

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Bradnam, Lynley V; Graetz, Lynton J; McDonnell, Michelle N; Ridding, Michael C

2015-01-01

There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand. The primary objective of this study was to determine if cerebellar transcranial direct current stimulation (tDCS) improves handwriting and cyclic drawing kinematics in people with hand dystonia, by reducing cerebellar-brain inhibition (CBI) evoked by transcranial magnetic stimulation (TMS). Eight people with dystonia (5 writer's dystonia, 3 musician's dystonia) and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. Dystonia severity was assessed using the Writer's Cramp Rating Scale (WRCS) and the Arm Dystonia Disability Scale (ADDS). The kinematic measures that differentiated the groups were; mean stroke frequency during handwriting and fast cyclic drawing and average pen pressure during light cyclic drawing. TMS measures of cortical excitability were no different between people with FHD and controls. There was a moderate, negative relationship between TMS-evoked CBI at baseline and the WRCS in dystonia. Anodal cerebellar tDCS reduced handwriting mean stroke frequency and average pen pressure, and increased speed and reduced pen pressure during fast cyclic drawing. Kinematic measures were not associated with a decrease in CBI within an individual. In conclusion, cerebellar anodal tDCS appeared to improve kinematics of handwriting and circle drawing tasks; but the underlying neurophysiological mechanism remains uncertain. A study in a larger homogeneous population is needed to further investigate the possible therapeutic benefit of cerebellar tDCS in dystonia.

Rest tremor in idiopathic adult-onset dystonia.

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Gigante, A F; Berardelli, A; Defazio, G

2016-05-01

Tremor in dystonia has been described as a postural or kinetic abnormality. In recent series, however, patients with idiopathic adult-onset dystonia also displayed rest tremor. The frequency and distribution of rest tremor were studied in a cohort of 173 consecutive Italian patients affected by various forms of idiopathic adult-onset dystonia attending our movement disorder clinic over 8 months. Examination revealed tremor in 59/173 patients (34%): 12 patients had head tremor, 34 patients had arm tremor, whilst 13 patients presented tremor in both sites. Head tremor was postural in all patients, whereas arm tremor was postural/kinetic in 28 patients, only at rest in one and both postural/kinetic and at rest in 18 patients. Patients with tremor were more likely to have segmental/multifocal dystonia. Patients who had rest tremor (either alone or associated with action tremor) had a higher age at dystonia onset and a greater frequency of dystonic arm involvement than patients with action tremor alone or without tremor. Both action and rest tremor are part of the tremor spectrum of adult-onset dystonia and are more frequently encountered in segmental/multifocal dystonia. The higher age at dystonia onset and the greater frequency of arm dystonia in patients with rest tremor may have pathophysiological implications and may account, at least in part, for the previous lack of identification of rest tremor as one possible type of tremor present in dystonia. © 2016 EAN.

Contribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of Dystonia.

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Lozeron, Pierre; Poujois, Aurélia; Richard, Alexandra; Masmoudi, Sana; Meppiel, Elodie; Woimant, France; Kubis, Nathalie

2016-01-01

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 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 valuable tool to improve

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

Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.

Science.gov (United States)

Shakkottai, Vikram G; Batla, Amit; Bhatia, Kailash; Dauer, William T; Dresel, Christian; Niethammer, Martin; Eidelberg, David; Raike, Robert S; Smith, Yoland; Jinnah, H A; Hess, Ellen J; Meunier, Sabine; Hallett, Mark; Fremont, Rachel; Khodakhah, Kamran; LeDoux, Mark S; Popa, Traian; Gallea, Cécile; Lehericy, Stéphane; Bostan, Andreea C; Strick, Peter L

2017-04-01

A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia. Data about brain structure, cerebellar metabolism, cerebellar connections, and noninvasive cerebellar stimulation that support (or not) a role for the cerebellum in human dystonia. Connections between the cerebellum and motor cortical and sub-cortical structures that could support a role for the cerebellum in dystonia. Overall points of consensus include: Neuronal dysfunction originating in the cerebellum can drive dystonic movements in rodent model systems. Imaging and neurophysiological studies in humans suggest that the cerebellum plays a role in the pathophysiology of dystonia, but do not provide conclusive evidence that the cerebellum is the primary or sole neuroanatomical site of origin.

Dystonia: an update on phenomenology, classification, pathogenesis and treatment.

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Balint, Bettina; Bhatia, Kailash P

2014-08-01

This article will highlight recent advances in dystonia with focus on clinical aspects such as the new classification, syndromic approach, new gene discoveries and genotype-phenotype correlations. Broadening of phenotype of some of the previously described hereditary dystonias and environmental risk factors and trends in treatment will be covered. Based on phenomenology, a new consensus update on the definition, phenomenology and classification of dystonia and a syndromic approach to guide diagnosis have been proposed. Terminology has changed and 'isolated dystonia' is used wherein dystonia is the only motor feature apart from tremor, and the previously called heredodegenerative dystonias and dystonia plus syndromes are now subsumed under 'combined dystonia'. The recently discovered genes ANO3, GNAL and CIZ1 appear not to be a common cause of adult-onset cervical dystonia. Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome. ALS2 gene mutations are a newly recognized cause for combined dystonia. The phenotypic and genotypic spectra of ATP1A3 mutations have considerably broadened. Two new genome-wide association studies identified new candidate genes. A retrospective analysis suggested complicated vaginal delivery as a modifying risk factor in DYT1. Recent studies confirm lasting therapeutic effects of deep brain stimulation in isolated dystonia, good treatment response in myoclonus-dystonia, and suggest that early treatment correlates with a better outcome. Phenotypic classification continues to be important to recognize particular forms of dystonia and this includes syndromic associations. There are a number of genes underlying isolated or combined dystonia and there will be further new discoveries with the advances in genetic technologies such as exome and whole-genome sequencing. The identification of new genes will facilitate better elucidation of pathogenetic mechanisms and possible corrective

Clinical neurogenetics: dystonia from phenotype to genotype.

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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.

Headache Attributed to Craniocervical Dystonia - A Little Known Headache.

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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.

The Functional Neuroanatomy of Dystonia

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Neychev, Vladimir K.; Gross, Robert; Lehéricy, Stephane; Hess, Ellen J.; Jinnah, H. A.

2011-01-01

Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. There are many different clinical manifestations, and many different causes. The neuroanatomical substrates for dystonia are only partly understood. Although the traditional view localizes dystonia to basal ganglia circuits, there is increasing recognition that this view is inadequate for accommodating a substantial portion of available clinical and experimental evidence. A model in which several brain regions play a role in a network better accommodates the evidence. This network model accommodates neuropathological and neuroimaging evidence that dystonia may be associated with abnormalities in multiple different brain regions. It also accommodates animal studies showing that dystonic movements arise with manipulations of different brain regions. It is consistent with neurophysiological evidence suggesting defects in neural inhibitory processes, sensorimotor integration, and maladaptive plasticity. Finally, it may explain neurosurgical experience showing that targeting the basal ganglia is effective only for certain subpopulations of dystonia. Most importantly, the network model provides many new and testable hypotheses with direct relevance for new treatment strategies that go beyond the basal ganglia. PMID:21303695

Dystonia: Emotional and Mental Health

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... 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 ...

Acute Cervical Dystonia Induced by Clebopride

OpenAIRE

Choi, Jin Kyo; Hong, Jin Yong

2017-01-01

Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride...

Dystonia

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... eRA) Grants Policy OER News About OER Research Contracts Loan Repayment News News Releases News Feed RSS ... of dystonia – based in some cases on the manipulation of the genes linked to the disorder in ...

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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Alberto Albanese

2016-04-01

Full Text Available Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results: The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion: Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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Albanese, Alberto; Sorbo, Francesca Del

2016-01-01

Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

Dissecting the links between cerebellum and dystonia.

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Malone, Ailish; Manto, Mario; Hass, Chris

2014-12-01

Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainly in rodents show that the cerebellum circuitry could also be a key player in the pathogenesis of some forms of dystonia. In particular, studies based on behavioral adaptation paradigm shed light on the links between dystonia and cerebellum. The spectrum of movement disorders in which the cerebellum is implicated is continuously expanding, and manipulation of cerebellar circuits might even emerge as a candidate therapy in the coming years.

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

NARCIS (Netherlands)

Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Björn; Lohnau, Thora; Groen, Justus; Kasten, Meike; Brüggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J.; Kumar, Kishore R.; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmüller, Eckart; Ferbert, Andreas; Lang, Anthony E.; Münchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J.; Langeveld, Antonius P. M.; Sue, Carolyn M.; Tijssen, Marina A. J.; Klein, Christine

2013-01-01

OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. METHODS: Genome-wide linkage analysis was

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

NARCIS (Netherlands)

Lohmann, Katja; Wilcox, Robert A.; Winkler, Susen; Ramirez, Alfredo; Rakovic, Aleksandar; Park, Jin-Sung; Arns, Bjoern; Lohnau, Thora; Kasten, Meike; Brueggemann, Norbert; Hagenah, Johann; Schmidt, Alexander; Kaiser, Frank J.; Kumar, Kishore R.; Zschiedrich, Katja; Alvarez-Fischer, Daniel; Altenmueller, Eckart; Ferbert, Andreas; Lang, Anthony E.; Muenchau, Alexander; Kostic, Vladimir; Simonyan, Kristina; Agzarian, Marc; Ozelius, Laurie J.; Langeveld, Antonius P. M.; Sue, Carolyn M.; Tijssen, Marina A. J.; Klein, Christine; Groen, Justus

Objective A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. Methods Genome-wide linkage analysis was carried

[Bilateral Pallidotomy for Tardive Dystonia:A Case Report].

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Kohara, Kotaro; Taira, Takaomi; Horisawa, Shiro; Hanada, Tomoko; Kawamata, Takakazu

2017-11-01

Tardive dystonia is a movement disorder related to the use of dopamine-receptor-blocking drugs. Several reports have shown that deep brain stimulation of the globus pallidus internus(GPi-DBS)is effective in treating tardive dystonia. However, a few reports demonstrated the efficacy of ablation of the GPi(pallidotomy). We herein report a case of tardive dystonia successfully treated with bilateral pallidotomy. A 32-year-old man developed severe tardive dystonia 10 years after the chronic use of antipsychotic drugs. Withdrawal of the drugs and botulinum toxin injections were ineffective. The patient underwent bilateral pallidotomy for tardive dystonia because of rejection of the implanted DBS devices. Significant improvement was observed, with a 95% decrease in the Burke-Fahn-Marsden Dystonia Rating Scale(BFMDRS)movement score, and no severe adverse events occurred. Symptomatic relief persisted for nine months. Pallidotomy is a feasible and efficacious procedure for tardive dystonia treatment without the use of hardware implantations.

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

OpenAIRE

Albanese, Alberto; Sorbo, Francesca Del

2016-01-01

Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known form...

Acute Cervical Dystonia Induced by Clebopride.

Science.gov (United States)

Choi, Jin Kyo; Hong, Jin Yong

2017-01-01

Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride should be aware of the adverse effects of this drug.

Acute Cervical Dystonia Induced by Clebopride

Directory of Open Access Journals (Sweden)

Jin Kyo Choi

2017-01-01

Full Text Available Antidopaminergic drugs are known to induce extrapyramidal symptoms. Clebopride, a dopamine antagonist, also can produce parkinsonism, tardive dyskinesia, tardive dystonia, hemifacial dystonia, or oculogyric crisis; however, acute dystonic reaction caused by clebopride has not been reported in adults. We report two young men who experienced acute cervical dystonia within a few days of taking clebopride. The patients recovered after discontinuation of the drug. Physicians prescribing clebopride should be aware of the adverse effects of this drug.

Clinical and Phenomenological Characteristics of Patients with Task-Specific Lingual Dystonia: Possible Association with Occupation

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Kazuya Yoshida

2017-12-01

Full Text Available BackgroundLingual dystonia is a subtype of oromandibular dystonia, which is a movement disorder characterized by involuntary sustained or intermittent contraction of the masticatory and/or tongue muscles. Lingual dystonia interferes with important daily activities, such as speaking, chewing, and swallowing, resulting in vocational and social disability.ObjectiveThe aim of this study was to investigate a possible relationship between occupation and the development of lingual dystonia.MethodsPhenomenological and clinical characteristics of 95 patients [53 females (55.8% and 42 males (44.2%, mean age 48.0 years] with task-specific, speech-induced lingual dystonia were analyzed. Structured interviews were carried out to obtain information regarding primary occupation, including overtime work and stress during work. The factors that might have influenced the development of lingual dystonia were estimated using multivariate logistic regression analysis of the 95 patients with lingual dystonia and 95 controls [68 females (71.6% and 27 males (28.4%, mean age 47.2 years] with temporomandibular disorders.ResultsOverall, 84.2% of the patients had regular occupations; 73.8% of the patients with regular occupations reported working overtime more than twice a week, and 63.8% of them experienced stress at the workplace. Furthermore, 82.1% of the patients had engaged in occupations that required them to talk to customers or other people under stressful situations over prolonged periods of time for many years (mean: 15.6 years. The most common occupation was sales representative (17.9%, followed by telephone operator (13.7%, customer service representative (10.5%, health care worker (9.5%, waiter or waitress (5.3%, receptionist (5.3%, and cashier (5.3%. Twenty-nine patients (30.5% had tardive lingual dystonia. Logistic regression analyses revealed that frequent requirements for professional speaking (p = 0.011, odds ratio: 5.66, high stress during work

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

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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.

Role of ARX Gene in Infantile Spasms and Dystonia

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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.

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

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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.

Motor cortex stimulation does not improve dystonia secondary to a focal basal ganglia lesion.

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Rieu, Isabelle; Aya Kombo, Magaly; Thobois, Stéphane; Derost, Philippe; Pollak, Pierre; Xie, Jing; Pereira, Bruno; Vidailhet, Marie; Burbaud, Pierre; Lefaucheur, Jean Pascal; Lemaire, Jean Jacques; Mertens, Patrick; Chabardes, Stephan; Broussolle, Emmanuel; Durif, Franck

2014-01-14

To assess the efficacy of epidural motor cortex stimulation (MCS) on dystonia, spasticity, pain, and quality of life in patients with dystonia secondary to a focal basal ganglia (BG) lesion. In this double-blind, crossover, multicenter study, 5 patients with dystonia secondary to a focal BG lesion were included. Two quadripolar leads were implanted epidurally over the primary motor (M1) and premotor cortices, contralateral to the most dystonic side. The leads were placed parallel to the central sulcus. Only the posterior lead over M1 was activated in this study. The most lateral or medial contact of the lead (depending on whether the dystonia predominated in the upper or lower limb) was selected as the anode, and the other 3 as cathodes. One month postoperatively, patients were randomly assigned to on- or off-stimulation for 3 months each, with a 1-month washout between the 2 conditions. Voltage, frequency, and pulse width were fixed at 3.8 V, 40 Hz, and 60 μs, respectively. Evaluations of dystonia (Burke-Fahn-Marsden Scale), spasticity (Ashworth score), pain intensity (visual analog scale), and quality of life (36-Item Short Form Health Survey) were performed before surgery and after each period of stimulation. Burke-Fahn-Marsden Scale, Ashworth score, pain intensity, and quality of life were not statistically significantly modified by MCS. Bipolar epidural MCS failed to improve any clinical feature in dystonia secondary to a focal BG lesion. This study provides Class I evidence that bipolar epidural MCS with the anode placed over the motor representation of the most affected limb failed to improve any clinical feature in dystonia secondary to a focal BG lesion.

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....... Radiographs showed multiple twisting of the extension leads with disconnection from the brain electrodes and a diagnosis of Twiddler's syndrome was made. Twiddler's syndrome was first described in patients with cardiac pacemakers. Patients with mental disability, elderly and obese patients are at increased...

Focal dystonia in musicians: From phenomenology to therapy

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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

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

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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

Task-specific singing dystonia: vocal instability that technique cannot fix.

Science.gov (United States)

Halstead, Lucinda A; McBroom, Deanna M; Bonilha, Heather Shaw

2015-01-01

Singer's dystonia is a rare variation of focal laryngeal dystonia presenting only during specific tasks in the singing voice. It is underdiagnosed since it is commonly attributed to technique problems including increased muscle tension, register transition, or wobble. Singer's dystonia differs from technique-related issues in that it is task- and/or pitch-specific, reproducible and occurs independently from the previously mentioned technical issues.This case series compares and contrasts profiles of four patients with singer's dystonia to increase our knowledge of this disorder. This retrospective case series includes a detailed case history, results of singing evaluations from individual voice teachers, review of singing voice samples by a singing voice specialist, evaluation by a laryngologist with endoscopy and laryngeal electromyography (LEMG), and spectral analysis of the voice samples by a speech-language pathologist. Results demonstrate the similarities and unique differences of individuals with singer's dystonia. Response to treatment and singing status varied from nearly complete relief of symptoms with botulinum toxin injections to minor relief of symptoms and discontinuation of singing. The following are the conclusions from this case series: (1) singer's dystonia exists as a separate entity from technique issues, (2) singer's dystonia is consistent with other focal task-specific dystonias found in musicians, (3) correctly diagnosing singer's dystonia allows singer's access to medical treatment of dystonia and an opportunity to modify their singing repertoire to continue singing with the voice they have, and (4) diagnosis of singer's dystonia requires careful sequential multidisciplinary evaluation to isolate the instability and confirm dystonia by LEMG and spectral voice analysis. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Tardive Dystonia: Clinical Spectrum and Novel Manifestations

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R. Jeffrey Davis

1988-01-01

Full Text Available Tardive dystonia was identified in 25 patients: involvement of the face and neck was most common; truncal and limb dystonia were also observed. There were 3 cases of laryngospasm and 2 of spasmodic dysphonia. The latter has not been previously reported as a manifestation of tardive dystonia. In all cases, movements typical of classic tardive dyskinesia could be demonstrated. This group illustrates the variety of dystonic disorders that may occur in conjunction with tardive dyskinesia.

Functional activity of the sensorimotor cortex and cerebellum relates to cervical dystonia symptoms.

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Burciu, Roxana G; Hess, Christopher W; Coombes, Stephen A; Ofori, Edward; Shukla, Priyank; Chung, Jae Woo; McFarland, Nikolaus R; Wagle Shukla, Aparna; Okun, Michael S; Vaillancourt, David E

2017-09-01

Cervical dystonia (CD) is the most common type of focal dystonia, causing abnormal movements of the neck and head. In this study, we used noninvasive imaging to investigate the motor system of patients with CD and uncover the neural correlates of dystonic symptoms. Furthermore, we examined whether a commonly prescribed anticholinergic medication in CD has an effect on the dystonia-related brain abnormalities. Participants included 16 patients with CD and 16 healthy age-matched controls. We collected functional MRI scans during a force task previously shown to extensively engage the motor system, and diffusion and T1-weighted MRI scans from which we calculated free-water and brain tissue densities. The dystonia group was also scanned ca. 2 h after a 2-mg dose of trihexyphenidyl. Severity of dystonia was assessed pre- and post-drug using the Burke-Fahn-Marsden Dystonia Rating Scale. Motor-related activity in CD was altered relative to controls in the primary somatosensory cortex, cerebellum, dorsal premotor and posterior parietal cortices, and occipital cortex. Most importantly, a regression model showed that increased severity of symptoms was associated with decreased functional activity of the somatosensory cortex and increased activity of the cerebellum. Structural imaging measures did not differ between CD and controls. The single dose of trihexyphenidyl altered the fMRI signal in the somatosensory cortex but not in the cerebellum. Symptom severity was not significantly reduced post-treatment. Findings show widespread changes in functional brain activity in CD and most importantly that dystonic symptoms relate to disrupted activity in the somatosensory cortex and cerebellum. Hum Brain Mapp 38:4563-4573, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

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.

Botulinum toxin for treatment of the focal dystonia.

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Nakamura, Yusaku

2017-07-29

Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia. Botulinum toxin treatment results in significant improvement of decreasing the symptom of dystonia. The success of treatment is dependent on muscle selection for treating involved muscles. Usually performance of botulinum toxin treatment is injected according to clinical experience of surface anatomy or clinical location method. However, the benefit of guidance of botulinum toxin treatment is improve outcome in dystonia. Injection techniques with ultra sound echogram or EMG guidance to identify dystonic muscles can be more benefit for patients.

Mental rotation and working memory in musicians' dystonia.

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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.

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

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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.

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

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Winfred Mugge

Full Text Available 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.

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models

OpenAIRE

Yokoi, Fumiaki; Dang, Mai T.; Yang, Guang; Li, JinDong; Doroodchi, Atbin; Zhou, Tong; Li, Yuqing

2011-01-01

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ε-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally-inherited Sgce heterozygous knockout (Sgce KO)...

Cognition in Childhood Dystonia : A systematic review

NARCIS (Netherlands)

Coenen, Maraike A; Eggink, Hendriekje; Tijssen, M.A.; Spikman, Jacoba

Background and aim: Cognitive impairments have been established as part of the non-motor phenomenology of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear. This systematic review aims at presenting an overview over the existing literature to elucidate the

Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.

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Shi, Lucy L; Simpson, C Blake; Hapner, Edie R; Jinnah, Hyder A; Johns, Michael M

2018-03-01

The aim of this study was to describe the presentation of pharyngeal dystonia (PD), which can occur as a focal or segmental dystonia with a primarily pharyngeal involvement for the discussion of treatment methods for controlling consequent symptoms. PD is specific to speech-related tasks. A retrospective medical record review of four patients with PD was performed. All patients were initially misdiagnosed with adductor spasmodic dysphonia and failed standard treatment with botulinum toxin type A (BTX). On laryngoscopy, the patients were discovered to have segmental or focal dystonia primarily affecting the pharyngeal musculature contributing to their vocal manifestations. A novel treatment regimen was designed, which involved directing BTX injections into the muscles involved in spasmodic valving at the oropharyngeal level. After titrating to an optimal dose, all patients showed improvement in their voice and speech with only mild dysphagia. These patients have maintained favorable results with repeat injections at 6- to 12-week intervals. PD, or dystonia with predominant pharyngeal involvement, is a rare entity with vocal manifestations that are not well described. It can be easily mistaken for spasmodic dysphonia. PD is specific to speech-related tasks. A novel method of BTX injections into the involved muscles results in a significant improvement in voice without significant dysphagia. Copyright © 2018 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Inherited dystonias: clinical features and molecular pathways.

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Weisheit, Corinne E; Pappas, Samuel S; Dauer, William T

2018-01-01

Recent decades have witnessed dramatic increases in understanding of the genetics of dystonia - a movement disorder characterized by involuntary twisting and abnormal posture. Hampered by a lack of overt neuropathology, researchers are investigating isolated monogenic causes to pinpoint common molecular mechanisms in this heterogeneous disease. Evidence from imaging, cellular, and murine work implicates deficiencies in dopamine neurotransmission, transcriptional dysregulation, and selective vulnerability of distinct neuronal populations to disease mutations. Studies of genetic forms of dystonia are also illuminating the developmental dependence of disease symptoms that is typical of many forms of the disease. As understanding of monogenic forms of dystonia grows, a clearer picture will develop of the abnormal motor circuitry behind this relatively common phenomenology. This chapter focuses on the current data covering the etiology and epidemiology, clinical presentation, and pathogenesis of four monogenic forms of isolated dystonia: DYT-TOR1A, DYT-THAP1, DYT-GCH1, and DYT-GNAL. Copyright © 2018 Elsevier B.V. All rights reserved.

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

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Balint, B; Bhatia, K P

2015-04-01

Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes. © 2015 EAN.

Lack of efficacy of levetiracetam in oromandibular and cranial dystonia.

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Park, J E; Srivanitchapoom, P; Maurer, C W; Mathew, P; Sackett, J; Paine, R; Ramos, V L; Hallett, M

2017-08-01

To determine the efficacy of levetiracetam in oromandibular or cranial dystonia. We recruited seven subjects with oromandibular or cranial dystonia. Five completed the study, median age was 71 years (range 42-79 years), median disease duration was 12 years (range 2-30 years). Participants were randomized to receive levetiracetam or placebo and were then crossed over. They titrated up to a total daily dose of 4000 mg or the maximum tolerated dose over 3 weeks and maintained that dose for another 3 weeks. The primary endpoint was the percent change of the eyes, mouth, speech, and swallowing Burke-Fahn-Marsden (BFM) subscores from baseline to weeks 6 and 14. Additional endpoints included the BFM subscore at weeks 3 and 11, and the global dystonia severity (GDS) subscore at weeks 3, 6, 11, and 14, as well as all adverse side effects. The mean percent increase in the BFM subscore (placebo: 31.25%, levetiracetam: 12.16%) was not significantly different between the two arms according to the Friedman analysis. The Wilcoxon signed-rank test showed that these percent changes were not significant, indicating that there was no statistical clinical worsening in either arm. The mean percent change of the BFM subscore at weeks 3 and 11 and the mean percent change of the GDS subscore at weeks 3, 6, 11, and 14 were not significantly different between the two arms, and the Wilcoxon signed-rank test did not show statistical significance. Levetiracetam does not appear to be efficacious in patients with oromandibular or cranial dystonia. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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.

Vitamin E treatment in tardive dystonia.

Science.gov (United States)

Dannon, P N; Grunhaus, L; Iancu, I; Braf, A; Lepkifker, E

1997-10-01

Tardive dystonia is a disorder characterized by abnormally sustained posturing associated with the use of dopamine-receptor blocking agents such as antipsychotic drugs. However, the structural pathologic and pathophysiologic features of this disorder are unknown, and no consistently effective pharmacologic treatment is available. Patients with tardive dystonia mostly are young men. We present the case of one substantially improved with treatment by 1200 mg/d (IU) of vitamin E.

Dystonia in neurodegeneration with brain iron accumulation : outcome of bilateral pallidal stimulation

NARCIS (Netherlands)

Timmermann, L.; Pauls, K. A. M.; Wieland, K.; Jech, R.; Kurlemann, G.; Sharma, N.; Gill, S. S.; Haenggeli, C. A.; Hayflick, S. J.; Hogarth, P.; Leenders, K. L.; Limousin, P.; Malanga, C. J.; Moro, E.; Ostrem, J. L.; Revilla, F. J.; Santens, P.; Schnitzler, A.; Tisch, S.; Valldeoriola, F.; Vesper, J.; Volkmann, J.; Woitalla, D.; Peker, S.

Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty

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.

Bruxism in craniocervical dystonia: a prospective study.

Science.gov (United States)

Borie, Laetitia; Langbour, Nicolas; Guehl, Dominique; Burbaud, Pierre; Ella, Bruno

2016-09-01

Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists. Occurrence of bruxism was compared between the different study populations. A binomial logistic regression analysis was used to determine which clinical features influenced bruxism occurrence in each population. The frequency of bruxism was significantly higher in the dystonic group than in normal controls but there was no difference between facial and cervical dystonia. It was also higher in women than in men. Bruxism features were similar between normal controls and dystonic patients except for a higher score of temporomandibular jaw pain in the dystonic group. The higher frequency of bruxism in dystonic patients suggests that bruxism is increased in patients with basal ganglia dysfunction but that its nature does not differ from that seen in bruxers from the normal population.

Basic timing abilities stay intact in patients with musician's dystonia.

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M C van der Steen

Full Text Available Task-specific focal dystonia is a movement disorder that is characterized by the loss of voluntary motor control in extensively trained movements. Musician's dystonia is a type of task-specific dystonia that is elicited in professional musicians during instrumental playing. The disorder has been associated with deficits in timing. In order to test the hypothesis that basic timing abilities are affected by musician's dystonia, we investigated a group of patients (N = 15 and a matched control group (N = 15 on a battery of sensory and sensorimotor synchronization tasks. Results did not show any deficits in auditory-motor processing for patients relative to controls. Both groups benefited from a pacing sequence that adapted to their timing (in a sensorimotor synchronization task at a stable tempo. In a purely perceptual task, both groups were able to detect a misaligned metronome when it was late rather than early relative to a musical beat. Overall, the results suggest that basic timing abilities stay intact in patients with musician's dystonia. This supports the idea that musician's dystonia is a highly task-specific movement disorder in which patients are mostly impaired in tasks closely related to the demands of actually playing their instrument.

Basic Timing Abilities Stay Intact in Patients with Musician's Dystonia

Science.gov (United States)

van der Steen, M. C.; van Vugt, Floris T.; Keller, Peter E.; Altenmüller, Eckart

2014-01-01

Task-specific focal dystonia is a movement disorder that is characterized by the loss of voluntary motor control in extensively trained movements. Musician's dystonia is a type of task-specific dystonia that is elicited in professional musicians during instrumental playing. The disorder has been associated with deficits in timing. In order to test the hypothesis that basic timing abilities are affected by musician's dystonia, we investigated a group of patients (N = 15) and a matched control group (N = 15) on a battery of sensory and sensorimotor synchronization tasks. Results did not show any deficits in auditory-motor processing for patients relative to controls. Both groups benefited from a pacing sequence that adapted to their timing (in a sensorimotor synchronization task at a stable tempo). In a purely perceptual task, both groups were able to detect a misaligned metronome when it was late rather than early relative to a musical beat. Overall, the results suggest that basic timing abilities stay intact in patients with musician's dystonia. This supports the idea that musician's dystonia is a highly task-specific movement disorder in which patients are mostly impaired in tasks closely related to the demands of actually playing their instrument. PMID:24667273

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

Recognising the common origins of dystonia and the development of human movement: A manifesto of unmet needs in isolated childhood dystonias

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Jean-Pierre Lin

2016-12-01

Full Text Available Dystonia in childhood may be severely disabling and often un-remitting and un-recognised. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy, autism, neurometabolic, neuroinflammatory and neurogenetic disorders. Collectively, there is a need to recognise the role of early postures and movements which characterise phases of normal fetal, infant and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of co-contraction is explored throughout infancy, childhood, young adulthood and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within cerebral palsy is reviewed. Original descriptions of cerebral palsy by William Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible is desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate.

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

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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.

Botulinum toxin therapy for limb dystonias.

Science.gov (United States)

Yoshimura, D M; Aminoff, M J; Olney, R K

1992-03-01

We investigated the effectiveness of botulinum toxin in 17 patients with limb dystonias (10 with occupational cramps, three with idiopathic dystonia unrelated to activity, and two each with post-stroke and parkinsonian dystonia) in a placebo-controlled, blinded study. We identified affected muscles clinically and by recording the EMG from implanted wire electrodes at rest and during performance of tasks that precipitated abnormal postures. There were three injections given with graded doses of toxin (average doses, 5 to 10, 10 to 20, and 20 to 40 units per muscle) and one with placebo, in random order. Subjective improvement occurred after 53% of injections of botulinum toxin, and this was substantial in 24%. Only one patient (7%) improved after placebo injection. Subjective improvement occurred in 82% of patients with at least one dose of toxin, lasting for 1 to 4 months. Response rates were similar between clinical groups. Objective evaluation failed to demonstrate significant improvement following treatment with toxin compared with placebo. The major side effect was transient focal weakness after 53% of injections of toxin.

The Anatomical Basis for Dystonia: The Motor Network Model

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H.A. Jinnah

2017-10-01

Full Text Available Background: The dystonias include a clinically and etiologically very diverse group of disorders. There are both degenerative and non-degenerative subtypes resulting from genetic or acquired causes. Traditionally, all dystonias have been viewed as disorders of the basal ganglia. However, there has been increasing appreciation for involvement of other brain regions including the cerebellum, thalamus, midbrain, and cortex. Much of the early evidence for these other brain regions has come from studies of animals, but multiple recent studies have been done with humans, in an effort to confirm or refute involvement of these other regions. The purpose of this article is to review the new evidence from animals and humans regarding the motor network model, and to address the issues important to translational neuroscience.Methods: The English literature was reviewed for articles relating to the neuroanatomical basis for various types of dystonia in both animals and humans.Results: There is evidence from both animals and humans that multiple brain regions play an important role in various types of dystonia. The most direct evidence for specific brain regions comes from animal studies using pharmacological, lesion, or genetic methods. In these studies, experimental manipulations of specific brain regions provide direct evidence for involvement of the basal ganglia, cerebellum, thalamus and other regions. Additional evidence also comes from human studies using neuropathological, neuroimaging, non-invasive brain stimulation, and surgical interventions. In these studies, the evidence is less conclusive, because discriminating the regions that cause dystonia from those that reflect secondary responses to abnormal movements is more challenging.Discussion: Overall, the evidence from both animals and humans suggests that different regions may play important roles in different subtypes of dystonia. The evidence so far provides strong support for the motor

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.

[Questionnaire survey of musician's dystonia among students of a music college].

Science.gov (United States)

Konaka, Kuni; Mochizuki, Hideki

2015-01-01

Musician's dystonia is known as a task specific dystonia. Though it is thought to occur during a long course of repetitive performance, the actual circumstances that precipitate this condition are not clear. According to factual reports this disease is not commonly known, probably because many of these patients may not have been visiting a hospital. We prepared a questionnaire and did a survey among the students of a music college. This is the first questionnaire survey aimed at finding out the prevalence of musician's dystonia among the students of music. Among the 480 participants of this survey, 29% of the students had knowledge of this disorder and 1.25% of the students had dystonia while performing music.

EEG?EMG polygraphic study of dystonia and myoclonus in a case of Creutzfeldt?Jakob disease ?

OpenAIRE

Hashimoto, Takao; Iwahashi, Teruaki; Ishii, Wataru; Yamamoto, Kanji; Ikeda, Shu-ichi

2015-01-01

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 ma...

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.

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

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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.

[Sotos syndrome associated with focal dystonia].

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Bravo, M; Chacón, J; Bautista, E; Pérez-Camacho, I; Trujillo, A; Grande, M A

Sotos syndrome is a form of infantile gigantism characterized by excessive body size from the time of birth, particular facies, acromegalic changes and signs of non-progressive cerebral involvement. The etiology is unknown. Diagnosis is based on somatometric data and the particular phenotype traits. Biochemical and endocrine studies are normal. Torticollis is a focal dystonia and therefore more common in adults. A 20 year old woman with macrosomic features since birth presented with: weight 104 kg, height 182 cm; prognathism, hypertelorism, a broad over hanging forehead with a high hair line; large ears, hands and feet; torticollis towards the right with elevation and anteroversion of the right shoulder which caused symptomatic scoliosis. She was bradypsychic and rather slow in speech. The complementary tests done (cerebral and cervical CT and MR, bone gammography, evoked potentials, EMG-ENG, sural nerve biopsy, biopsy of skin and muscle, EEG and hormone and biochemistry studies) were normal. The torticollis was treated with botulinus toxin and improved considerably, as did the scoliosis. To date, dystonia has not been described in association with Sotos syndrome. This may be a causal association, or even perhaps hereditary, since the patient's mother had dystonia (in the form of blepharospasm).

[Focal dystonia in musicians: Phenomenology and musical triggering factors].

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Aránguiz, R; Chana-Cuevas, P; Alburquerque, D; Curinao, X

2015-06-01

Dystonias are defined as a joint sustained and involuntary contraction of agonist and antagonist muscles, which can cause torsion, repetitive abnormal involuntary movements, and/or abnormal postures. One special group of dystonias are those known as occupational, which include dystonia disorders triggered by a repetitive motor activity associated with a specific professional activity or task. Musicians are a population particularly vulnerable to these types of dystonia, which are presented as a loss of coordination and voluntary motor control movements highly trained in musical interpretation. Our aim is to describe a clinical series of focal dystonias in musicians evaluated and treated in our centre. Data is presented on a clinical series of 12 musicians with occupational dystonia. Their history and phenomenology are described, as well as well as their outcome after therapy. Demographic details: Mean age 34.8 ± 11.8 years, 10 males (83.3%) and 2 females (16.7%). History of trauma in dystonic segment, 6 patients (50%); family history of neurological diseases in first-degree relatives, 6 patients (50%); occupational history according to music category, 8 patients (66.6%) were classical musicians and 4 patients (33.3%) were popular musicians. The dystonia syndrome was characterised by having a mean age of onset of 28.2 ± 11.3 years (range 18-57 years). The segment affected was the hand (91.7%) in 11 patients. Of all the musicians seen in the clinic, 9 of them (75%) received therapy. The majority of patients appeared to have triggering factors specific to musical execution and linked to the requirement of fine motor control. It should be mentioned that 50% of the musicians treated maintained their professional activity or position in the orchestra to which they belonged. The majority of our phenomenological findings are consistent with those reported in the current literature. However, it is worth mentioning the presence of triggering factors attributed to the

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

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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.

The occurrence of dystonia in upper-limb multiple sclerosis tremor.

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Van der Walt, A; Buzzard, K; Sung, S; Spelman, T; Kolbe, S C; Marriott, M; Butzkueven, H; Evans, A

2015-12-01

The pathophysiology of multiple sclerosis (MS) tremor is uncertain with limited phenotypical studies available. To investigate whether dystonia contributes to MS tremor and its severity. MS patients (n = 54) with and without disabling uni- or bilateral upper limb tremor were recruited (39 limbs per group). We rated tremor severity, writing and Archimedes spiral drawing; cerebellar dysfunction (SARA score); the Global Dystonia Scale (GDS) for proximal and distal upper limbs, dystonic posturing, mirror movements, geste antagoniste, and writer's cramp. Geste antagoniste, mirror dystonia, and dystonic posturing were more frequent and severe (p tremor severity in tremor compared to non-tremor patients. A 1-unit increase in distal dystonia predicted a 0.52-Bain unit (95% confidence interval (CI) 0.08-0.97), p = 0.022) increase in tremor severity and a 1-unit (95% CI 0.48-1.6, p = 0.001) increase in drawing scores. A 1-unit increase in proximal dystonia predicted 0.93-Bain unit increase (95% CI 0.45-1.41, p tremor severity and 1.5-units (95% CI 0.62-2.41, p = 0.002) increase in the drawing score. Cerebellar function in the tremor limb and tremor severity was correlated (p tremor suggesting that MS tremor pathophysiology involves cerebello-pallido-thalamo-cortical network dysfunction. © The Author(s), 2015.

Acute hemifacial dystonia possibly induced by clebopride.

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Bosco, Domenico; Plastino, Massimiliano; Marcello, Maria Giovanna; Mungari, Pasquale; Fava, Antonietta

2009-01-01

Dystonic reactions produce twisting and repetitive movements or abnormal posturing. Severe dystonic reactions have been shown to occur in concert with numerous medications. This report details the case of a patient who developed hemifacial dystonia as acute side reaction from administration of clebopride for dyspeptic prophylaxis. When the drug was immediately stopped, the dystonic posture disappeared completely within 2 weeks. The use of clebopride may be associated with not only a reversible or persistent parkinsonism syndrome but also hemifacial dystonia; therefore, attention must be drawn to this possible side effect.

Bilateral dystonia in type 1 diabetes: a case report

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Yasuhara Akihiro

2008-11-01

Full Text Available Abstract Introduction Diabetic hemichorea-hemiballismus is a rare complication of type 2 diabetes. Here, we report a case with type 1 diabetes, with hemichorea and bilateral dystonia manifested as hyperglycemia-induced involuntary movement. Case presentation A 62-year-old Japanese women with body weight loss of 30 kg during the past year developed symptoms of thirst, polydipsia and polyuria. She also presented with hemichorea and bilateral dystonia for 5 days and extremely high plasma glucose (774 mg/dl, hemoglobin A1c (21.2% and glycated albumin (100% with ketosis. Based on the presence of glutamic acid decarboxylase antibodies (18,000 U/ml; normal Conclusion Hyperglycemia-induced involuntary movement is one of the manifestations of dystonia and hemichorea-hemiballism.

A new knock-in mouse model of l-DOPA-responsive dystonia.

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Rose, Samuel J; Yu, Xin Y; Heinzer, Ann K; Harrast, Porter; Fan, Xueliang; Raike, Robert S; Thompson, Valerie B; Pare, Jean-Francois; Weinshenker, David; Smith, Yoland; Jinnah, Hyder A; Hess, Ellen J

2015-10-01

Abnormal dopamine neurotransmission is associated with many different genetic and acquired dystonic disorders. For instance, mutations in genes critical for the synthesis of dopamine, including GCH1 and TH cause l-DOPA-responsive dystonia. Despite evidence that implicates abnormal dopamine neurotransmission in dystonia, the precise nature of the pre- and postsynaptic defects that result in dystonia are not known. To better understand these defects, we generated a knock-in mouse model of l-DOPA-responsive dystonia (DRD) mice that recapitulates the human p.381Q>K TH mutation (c.1141C>A). Mice homozygous for this mutation displayed the core features of the human disorder, including reduced TH activity, dystonia that worsened throughout the course of the active phase, and improvement in the dystonia in response to both l-DOPA and trihexyphenidyl. Although the gross anatomy of the nigrostriatal dopaminergic neurons was normal in DRD mice, the microstructure of striatal synapses was affected whereby the ratio of axo-spinous to axo-dendritic corticostriatal synaptic contacts was reduced. Microinjection of l-DOPA directly into the striatum ameliorated the dystonic movements but cerebellar microinjections of l-DOPA had no effect. Surprisingly, the striatal dopamine concentration was reduced to ∼1% of normal, a concentration more typically associated with akinesia, suggesting that (mal)adaptive postsynaptic responses may also play a role in the development of dystonia. Administration of D1- or D2-like dopamine receptor agonists to enhance dopamine signalling reduced the dystonic movements, whereas administration of D1- or D2-like dopamine receptor antagonists to further reduce dopamine signalling worsened the dystonia, suggesting that both receptors mediate the abnormal movements. Further, D1-dopamine receptors were supersensitive; adenylate cyclase activity, locomotor activity and stereotypy were exaggerated in DRD mice in response to the D1-dopamine receptor agonist SKF

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

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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.

A new treatment for focal dystonias: incobotulinumtoxinA (Xeomin®, a botulinum neurotoxin type A free from complexing proteins

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Jimenez-Shahed J

2011-12-01

Full Text Available Joohi Jimenez-ShahedDepartment of Neurology, Baylor College of Medicine, Houston, TX, USAAbstract: Dystonia is a movement disorder of uncertain pathogenesis that is characterized by involuntary and inappropriate muscle contractions which cause sustained abnormal postures and movements of multiple or single (focal body regions. The most common focal dystonias are cervical dystonia (CD and blepharospasm (BSP. The first-line recommended treatment for CD and BSP is injection with botulinum toxin (BoNT, of which two serotypes are available: BoNT type A (BoNT/A and BoNT type B (BoNT/B. Conventional BoNT formulations include inactive complexing proteins, which may increase the risk for antigenicity, possibly leading to treatment failure. IncobotulinumtoxinA (Xeomin®; Merz Pharmaceuticals GmbH, Frankfurt, Germany is a BoNT/A agent that has been recently Food and Drug Administration-approved for the treatment of adults with CD and adults with BSP previously treated with onabotulinumtoxinA (Botox®; Allergen, Inc, Irvine, CA – a conventional BoNT/A. IncobotulinumtoxinA is the only BoNT product that is free of complexing proteins. The necessity of complexing proteins for the effectiveness of botulinum toxin treatment has been challenged by preclinical and clinical studies with incobotulinumtoxinA. These studies have also suggested that incobotulinumtoxinA is associated with a lower risk for stimulating antibody formation than onabotulinumtoxinA. In phase 3 noninferiority trials, incobotulinumtoxinA demonstrated significant improvements in CD and BSP symptoms in both primary and secondary measures, compared with baseline, and met criteria for noninferiority versus onabotulinumtoxinA. In placebo-controlled trials, incobotulinumtoxinA also significantly improved the symptoms of CD and BSP, with robust outcomes in both primary and secondary measures. The use of incobotulinumtoxinA has been well tolerated in all trials, with an adverse event profile similar

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

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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.

A role for cerebellum in the hereditary dystonia DYT1

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Fremont, Rachel; Tewari, Ambika; Angueyra, Chantal; Khodakhah, Kamran

2017-01-01

DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential developmental compensation between rodents and humans. To address this issue, torsinA was acutely knocked down in select brain regions of adult mice using shRNAs. TorsinA knockdown in the cerebellum, but not in the basal ganglia, was sufficient to induce dystonia. In agreement with a potential developmental compensation for loss of torsinA in rodents, torsinA knockdown in the immature cerebellum failed to produce dystonia. Abnormal motor symptoms in knockdown animals were associated with irregular cerebellar output caused by changes in the intrinsic activity of both Purkinje cells and neurons of the deep cerebellar nuclei. These data identify the cerebellum as the main site of dysfunction in DYT1, and offer new therapeutic targets. DOI: http://dx.doi.org/10.7554/eLife.22775.001 PMID:28198698

kinesiotaping reduces pain and modulates sensory function in patients with focal dystonia: a randomized crossover pilot study.

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Pelosin, Elisa; Avanzino, Laura; Marchese, Roberta; Stramesi, Paola; Bilanci, Martina; Trompetto, Carlo; Abbruzzese, Giovanni

2013-10-01

Pain is one of the most common and disabling "nonmotor" symptoms in patients with dystonia. No recent study evaluated the pharmacological or physical therapy approaches to specifically treat dystonic pain symptoms. To evaluate the effectiveness of KinesioTaping in patients with cervical dystonia (CD) and focal hand dystonia (FHD) on self-reported pain (primary objective) and on sensory functions (secondary objective). Twenty-five dystonic patients (14 with CD and 11 FHD) entered a randomized crossover pilot study. The patients were randomized to 14-day treatment with KinesioTaping or ShamTaping over neck (in CD) or forearm muscles (in FHD), and after a 30-day washout period, they received the other treatment. The were 3 visual analog scales (VASs) for usual pain, worst pain, and pain relief. Disease severity changes were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (CD) and the Writer's Cramp Rating Scale (FHD). Furthermore, to investigate possible KinesioTaping-induced effects on sensory functions, we evaluated the somatosensory temporal discrimination threshold. Treatment with KinesioTape induced a decrease in the subjective sensation of pain and a modification in the ability of sensory discrimination, whereas ShamTaping had no effect. A significant, positive correlation was found in both groups of patients between the improvement in the subjective sensation of pain and the reduction of somatosensory temporal discrimination threshold values induced by KinesioTaping. These preliminary results suggest that KinesioTaping may be useful in treating pain in patients with dystonia.

Clinical Characteristics of Voice, Speech, and Swallowing Disorders in Oromandibular Dystonia

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Kreisler, Alexandre; Vepraet, Anne Caroline; Veit, Solène; Pennel-Ployart, Odile; Béhal, Hélène; Duhamel, Alain; Destée, Alain

2016-01-01

Purpose: To better define the clinical characteristics of idiopathic oromandibular dystonia, we studied voice, speech, and swallowing disorders and their impact on activities of daily living. Method: Fourteen consecutive patients with idiopathic oromandibular dystonia and 14 matched, healthy control subjects were included in the study. Results:…

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

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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.

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

Therapeutic effects of flunitrazepan in dystonias and torticollis preliminary communication

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Raul Marino Jr.

1993-06-01

Full Text Available A new form of clinical treatment is proposed for dystonias and torticollis using flunitrazepan (FN, a powerful agonist of all benzodiazepine receptors of GABA neurons. FN has a specific effect in dystonic patients, specially those in which the hypnotic effect of this drug is absent or diminished, thus suggesting the existence of two different neurochemical categories of dystonias.

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

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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

Complex regional pain syndrome with associated chest wall dystonia: a case report

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Schwartzman Robert J

2011-09-01

Full Text Available Abstract Patients with complex regional pain syndrome (CRPS often suffer from an array of associated movement disorders, including dystonia of an affected limb. We present a case of a patient with long standing CRPS after a brachial plexus injury, who after displaying several features of the movement disorder previously, developed painful dystonia of chest wall musculature. Detailed neurologic examination found palpable sustained contractions of the pectoral and intercostal muscles in addition to surface allodynia. Needle electromyography of the intercostal and paraspinal muscles supported the diagnosis of dystonia. In addition, pulmonary function testing showed both restrictive and obstructive features in the absence of a clear cardiopulmonary etiology. Treatment was initiated with intrathecal baclofen and the patient had symptomatic relief and improvement of dystonia. This case illustrates a novel form of the movement disorder associated with CRPS with response to intrathecal baclofen treatment.

Multifocal dystonia, Clinical feature of Hallervorden-Spatz

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Ghelichkhani H

1998-09-01

Full Text Available Hallervorden-spatz disease is an inherited metabolic disorder with autosomal recessive trait. Onset is in late childhood or early adolescence. Clinical manifestation is variable but pyramidal and extrapyramidal signs are often prominent. Many of patients show progressive dementia and extrapyramidal symptoms. Ataxia or myoclonus is reported in the course of the disease in individual cases. Focal dystonias including tongue, eyelids (blepharospasm and optic atrophy, retinitis pigmentosa, rarely familial parkinsonism are also reported. Pathologically pigmentary degeneration of globus pallidus, substantia nigra (pars reticular and red nucleus is characteristic. In our case the main clinical feature was multifocal dystonia without obvious pyramidal or other extrapyramidal symptoms, and diagnosis was based on clinical and MRI findings.

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...

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

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......, 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...

Reduced parietal activation in cervical dystonia after parietal TMS interleaved with fMRI

NARCIS (Netherlands)

de Vries, Paulien M.; de Jong, Bauke M.; Bohning, Daryl E.; Hinson, Vanessa K.; George, Mark S.; Leenders, Klaus L.

Objective: Clinically normal hand movement with altered cerebral activation patterns in cervical dystonia (CD) may imply cerebral adaptation. Since impaired sensorimotor integration appears to play a role in dystonia, left superior parietal cortex modulation with repetitive transcranial magnetic

Reflex mechanisms in CRPS-related dystonia

NARCIS (Netherlands)

Mugge, W.

2011-01-01

Complex Regional Pain Syndrome (CRPS) is a disabling syndrome associated with sensory (e.g., burning pain, allodynia, hyperalgesia), autonomic (e.g., edema, skin color and temperature changes), and motor impairments (e.g., tremor, myoclonus, dystonia). Approximately 25% of the patients with CRPS

Determinants of disability in cervical dystonia

NARCIS (Netherlands)

van den Dool, J.; Tijssen, M. A. J.; Koelman, J. H. T. M.; Engelbert, R. H. H.; Visser, B.

Background: Cervical dystonia (CD) is characterized by involuntary muscle contractions causing abnormal postures and/or twisting movements of the head and neck. These motor symptoms can have a major impact on disability. Treatment with botulinum toxin injections aims to reduce motor symptoms, and

Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias

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Eva Hebert

2017-10-01

Full Text Available Mutations in RAB (member of the Ras superfamily genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD and writer’s dystonia (WD are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson’s disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1.1% but only one carrier in non-dystonic individuals (0.1%; p = 0.005. The detected variants among index patients comprised p.Ile196Val (n = 6; p.Ala174Thr (n = 3; p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. Two relatives of MD patients with WD also carried p.Ile196Val. The two variants identified in MD patients (p.Ile196Val; p.Gly13Asp were characterized on endogenous levels in patient-derived fibroblasts and in two RAB12-overexpressing cell models. The ability to hydrolyze guanosine triphosphate (GTP, so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. Soluble Transferrin receptor 1 levels were reduced in the blood of all three tested p.Ile196Val carriers. In conclusion, we demonstrate an enrichment of missense changes among dystonia patients. Functional characterization revealed altered enzyme activity and lysosomal distribution in mutants suggesting a contribution of RAB12 variants to MD and other dystonias.

Amitriptyline induced cervical dystonia

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Shivanand B Hiremath

2016-01-01

Full Text Available Tricyclic antidepressants (TCAs, such as amitriptyline, have many side effects. But extrapyramidal tract symptom is an uncommon side effect of these drugs. Here, we report a case of a 28-year-old male who is suffering from amitriptyline induced cervical dystonia. Though rare, this side effect is an uncomfortable condition and may influence drug compliance. So clinicians should be aware of this side effect while treating a patient with amitriptyline.

Rating scales for dystonia in cerebral palsy: reliability and validity

OpenAIRE

Monbaliu, Elegast; Ortibus, Els; Roelens, F; Desloovere, Kaat; Declerck, Jan; Prinzie, Peter; De Cock, Paul; Feys, Hilde

2010-01-01

AIM: This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). METHOD: Three raters independently scored videotapes of 10 patients (five males, five females; mean age 13 y 3 mo, SD 5 y 2 mo, range 5-22 y). One patient each was classified at levels I-IV in the Gross Motor Function Classification System a...

Genetics Home Reference: task-specific focal dystonia

Science.gov (United States)

... of particular tasks, such as writing, playing a musical instrument, or participating in a sport. Dystonias are a ... cramps and spasms that occur while playing a musical instrument. This condition can affect amateur or professional musicians, ...

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...

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.

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

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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.

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

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

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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...

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

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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.

Tiagabine treatment in kainic acid induced cerebellar lesion of dystonia rat model

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Wang, Tsui-chin; Ngampramuan, Sukonthar; Kotchabhakdi, Naiphinich

2016-01-01

Dystonia is a neurological disorder characterized by excessive involuntary muscle contractions that lead to twisting movements. The exaggerated movements have been studied and have implicated basal ganglia as the point of origin. In more recent studies, the cerebellum has also been identified as the possible target of dystonia, in the search for alternative treatments. Tiagabine is a selective GABA transporter inhibitor, which blocks the reuptake and recycling of GABA. The study of GABAergic drugs as an alternative treatment for cerebellar induced dystonia has not been reported. In our study, tiagabine was i.p. injected into kainic acid induced, cerebellar dystonic adult rats, and the effects were compared with non-tiagabine injected and sham-operated groups. Beam walking apparatus, telemetric electromyography (EMG) recording, and histological verification were performed to confirm dystonic symptoms in the rats on post-surgery treatment. Involuntary dystonic spasm was observed with repetitive rigidity, and twisting movements in the rats were also confirmed by a high score on the dystonic scoring and a high amplitude on the EMG data. The rats with tiagabine treatment were scored based on motor amelioration assessed via beam walking. The result of this study suggests and confirms that low dose of kainic acid microinjection is sufficient to induce dystonia from the cerebellar vermis. In addition, from the results of the EMG recording and the behavioral assessment through beam walking, tiagabine is demonstrated as being effective in reducing dystonic spasm and may be a possible alternative therapeutic drug in the treatment of dystonia. PMID:28337103

Deep brain stimulation effects in dystonia: time course of electrophysiological changes in early treatment.

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Ruge, Diane; Tisch, Stephen; Hariz, Marwan I; Zrinzo, Ludvic; Bhatia, Kailash P; Quinn, Niall P; Jahanshahi, Marjan; Limousin, Patricia; Rothwell, John C

2011-08-15

Deep brain stimulation to the internal globus pallidus is an effective treatment for primary dystonia. The optimal clinical effect often occurs only weeks to months after starting stimulation. To better understand the underlying electrophysiological changes in this period, we assessed longitudinally 2 pathophysiological markers of dystonia in patients prior to and in the early treatment period (1, 3, 6 months) after deep brain stimulation surgery. Transcranial magnetic stimulation was used to track changes in short-latency intracortical inhibition, a measure of excitability of GABA(A) -ergic corticocortical connections and long-term potentiation-like synaptic plasticity (as a response to paired associative stimulation). Deep brain stimulation remained on for the duration of the study. Prior to surgery, inhibition was reduced and plasticity increased in patients compared with healthy controls. Following surgery and commencement of deep brain stimulation, short-latency intracortical inhibition increased toward normal levels over the following months with the same monotonic time course as the patients' clinical benefit. In contrast, synaptic plasticity changed rapidly, following a nonmonotonic time course: it was absent early (1 month) after surgery, and then over the following months increased toward levels observed in healthy individuals. We postulate that before surgery preexisting high levels of plasticity form strong memories of dystonic movement patterns. When deep brain stimulation is turned on, it disrupts abnormal basal ganglia signals, resulting in the absent response to paired associative stimulation at 1 month. Clinical benefit is delayed because engrams of abnormal movement persist and take time to normalize. Our observations suggest that plasticity may be a driver of long-term therapeutic effects of deep brain stimulation in dystonia. Copyright © 2011 Movement Disorder Society.

Immune state of patients of vegeto-vascular dystonia, clean-up workers of the Chernobyl accident

International Nuclear Information System (INIS)

Sakhno, T.A.; Davydova, T.I.; Bazika, D.A.; Chumak, A.A.

1995-01-01

Immune state of 272 clean-up workers, participants of the Chernobyl Power Plant accident, suffering from vegeto-vascular dystonia is studied. Comparison groups were formed by 20 healthy clean-up workers, 25 vegeto-vascular dystonia patients non-participating in the clean-up works, and 60 healthy donors. Immune state disturbances in the vegeto-vascular dystonia patients have unidirectional changing but among the clear-up workers their expression was much significant coinciding with the more severe clinical courses of disease comparing to the patients non-participating in the clean-up works

Modulation of the Muscle Activity During Sleep in Cervical Dystonia.

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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.

Atypical presentation of dopa-responsive dystonia in Taiwan.

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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.

[Myths and evidence on the use of botulinum toxin: neuropharmacology and dystonia].

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Garcia-Ruiz, P J; Sanz-Cartagena, P; Martinez-Castrillo, J C; Ares-Pensado, B; Aviles-Olmos, I; Blazquez-Estrada, M; Fanjul-Arbos, S; Garcia-Caldentey, J; Gazulla, J; Gutierrez-Garcia, J; Huete-Anton, B; Lucas-Rodenas, C; Luquin, M R; Martinez-Torres, I; Medialdea-Natera, P; Mendoza-Rodriguez, A; Mir-Rivera, P; Posada, I J; Ruiz-Martinez, J; Sanchez-Alonso, P; Trejo-Gabriel Y Galan, J M; Vela, L; Pena-Segura, J L

2018-03-01

Botulinum toxin type A (BTA) is a bacterial endotoxin, whose therapeutic use has had a dramatic impact on different neurological disorders, such as dystonia and spasticity. To analyze and summarize different questions about the use of BTA in our clinical practice. A group of experts in neurology developed a list of topics related with the use of BTA. Two groups were considered: neuropharmacology and dystonia. A literature search at PubMed, mainly for English language articles published up to June 2016 was performed. The manuscript was structured as a questionnaire that includes those questions that, according to the panel opinion, could generate more controversy or doubt. The initial draft was reviewed by the expert panel members to allow modifications, and after subsequent revisions for achieving the highest degree of consensus, the final text was then validated. Different questions about diverse aspects of neuropharmacology, such as mechanism of action, bioequivalence of the different preparations, immunogenicity, etc. were included. Regarding dystonia, the document included questions about methods of evaluation, cervical dystonia, blepharospasm, etc. This review does not pretend to be a guide, but rather a tool for continuous training of residents and specialists in neurology, about different specific areas of the management of BTA.

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

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ANTONIO PEDRO VARGAS

2000-06-01

Full Text Available Desordens de movimento raramente podem ser devidas a distúrbios psiquiátricos. A distonia psicogênica caracteriza-se pela inconsistência dos achados, presença de fatores precipitantes, manifestar-se inicialmente nos membros inferiores, associar-se a dor, a outros movimentos anormais incaracterísticos e a somatizações múltiplas. Descrevemos duas pacientes com diagnóstico de distonia psicogênica clinicamente estabelecida. Paciente 1, feminina, apresentou episódio súbito de perda de força dos quatro membros, evoluiu com distonia nos pés, laterocolo alternante, tremor generalizado, irregular, e hipertonia dos membros inferiores que desapareciam a distração; a avaliação psicológica evidenciou depressão, hipocondria, transtorno obsessivo. Paciente 2, feminina, há nove anos começou a ter tremor irregular nos membros inferiores, que desaparecia com a distração, e distonia no pé esquerdo associada a dor; progressivamente perdeu a marcha; a avaliação psicológica revelou comportamento infantilizado, com baixa tolerância a frustração, impulsividade e auto-agressão. Os exames complementares de ambas não mostraram alterações e a resposta ao tratamento farmacológico foi nula. Distonia raramente é de origem psicogênica. A inconstância e a incongruência com o quadro clássico, associadas a outras somatizações ou a distúrbios psiquiátricos, sugerem o diagnóstico.Movement disorders have rarely been the result of psychiatric disturbances. Psychogenic dystonia is caracterized by inconsistent findings, a known precipitant factor, onset in legs, pain , multiple somatizations and incongruent association with other movement disorders. We report two patients with clinically established psychogenic dystonia. Patient 1: a female that presented sudden loss of strength in her four limbs; she developed feet dystonia, alternant laterocollis, generalized and irregular tremor, and limb hypertonia that disappeared with distraction

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

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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.

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models.

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Yokoi, Fumiaki; Dang, Mai T; Zhou, Tong; Li, Yuqing

2012-02-15

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ε-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ε-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ε-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ε-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients.

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

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

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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.

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

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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.

Case report: Physical therapy management of axial dystonia.

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Voos, Mariana Callil; Oliveira, Tatiana de Paula; Piemonte, Maria Elisa Pimentel; Barbosa, Egberto Reis

2014-01-01

Few studies have described physical therapy approaches to provide functional independence and reduce pain in individuals with dystonia. This report describes the physical therapy treatment of a 46-year-old woman diagnosed with idiopathic segmental axial dystonia. For two years, the patient was treated with kinesiotherapy (active and resisted movements and stretching of neck and trunk muscles), abdominal taping (kinesiotaping techniques), functional training, and sensory tricks. She was assessed with parts I, II and III of Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-I, TWSTRS-II and TWSTRS-III), Berg Balance Scale (BBS), Six-Minute Walk Test (6-MWT), and the motor domain of Functional Independence Measure (FIM-motor) before and after the two-year treatment and after the one year follow-up. Postural control and symmetry improved (TWSTRS-I: from 30 to 18), functional independence increased (TWSTRS-II: from 27 to 15; BBS: from 36 to 46; 6-MWT: from 0 to 480 meters (m); FIM-motor: from 59 to 81), and the pain diminished (TWSTRS-III: from 12 to 5). The functional improvement was retained after one year (TWSTRS-I: 14/35; TWRTRS-II: 12/30; TWRTRS-III: 5/20; BBS: 48/56; 6-MWT: 450 m; FIM-motor: 81/91). This program showed efficacy on providing a better control of the dystonic muscles and thus the doses of botulinum toxin needed to treat them could be reduced. Outcomes support the therapeutic strategies used to deal with this type of dystonia.

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...

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

Interventional studies in childhood dystonia do not address the concerns of children and their carers.

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Lumsden, Daniel E; Gimeno, Hortensia; Tustin, Kylee; Kaminska, Margaret; Lin, Jean-Pierre

2015-05-01

This study aimed to determine the main concerns/priorities of the parents and carers of children with dystonia referred to our service and whether medical interventional studies addressed these concerns. Records of children assessed by our service from June 2005-December 2012 were reviewed and expressed parental/carer concerns at initial assessment categorized using the International Classification of Functioning (ICF) Framework. Medline, CINAHL and Embase databases were searched for outcome measures of medical and surgical interventional studies in childhood dystonia. Data was collected from 273 children and young people with dystonia. The most commonly expressed concerns were: pain (104/273, 38.1%); difficulties in delivering activities of daily-living (66/273, 24.2%), difficulties with hand-use (59/273, 21.6%) and seating (41/273, 15.0%). Literature review identified 70 interventional studies, 46 neurosurgical and 24 pharmacological. The majority of neurosurgical studies (34/46) used impairment scales to measure change, with pharmacological studies typically reporting more subjective changes in motor symptoms. Only a minority of studies used assessments or scales capable of objectively addressing the concerns reported by our cohort. Existing interventional studies in childhood dystonia poorly address the main concerns of children with dystonia and their carers, limiting the conclusions which may be drawn as to true impact of these interventions in childhood. Copyright © 2015 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Altered striatal and pallidal connectivity in cervical dystonia

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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

Alcohol responsiveness in laryngeal dystonia: A survey study

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Kirke, Diana N.; Frucht, Steven J.; Simonyan, Kristina

2015-01-01

Laryngeal dystonia (LD) is a task-specific focal dystonia of unknown pathophysiology affecting speech production. We examined the demographics of anecdotally reported alcohol use and its effects on LD symptoms using an online survey based on Research Electronic Data Capture (REDCap™) and National Spasmodic Dysphonia Association’s patient registry. From 641 participants, 531 were selected for data analysis, and 110 were excluded because of unconfirmed diagnosis. A total of 406 patients (76.5%) had LD and 125 (23.5%) had LD and voice tremor (LD/VT). The consumption of alcohol was reported by 374 LD (92.1%) and 109 LD/VT (87.2%) patients. Improvement of voice symptoms after alcohol ingestion was noted by 227 LD (55.9% of all patients) and 73 LD/VT (58.4%), which paralleled the improvement observed by patient’s family and/or friends in 214 LD (57.2%) and 69 LD/VT (63.3%) patients. The benefits lasted 1–3 hours in both groups with the maximum effect after 2 drinks in LD patients (p = 0.002), whereas LD/VT symptoms improved independent of the consumed amount (p = 0.48). Our data suggest that isolated dystonic symptoms, such as in LD, are responsive to alcohol intake and this responsiveness is not attributed to the presence of VT, which is known to have significant benefits from alcohol ingestion. Alcohol may modulate the pathophysiological mechanisms underlying abnormal neurotransmission of γ-aminobutyric acid (GABA) in dystonia and as such provide new avenues for novel therapeutic options in these patients. PMID:25929664

Abnormal nuclear envelopes in the striatum and motor deficits in DYT11 myoclonus-dystonia mouse models

Science.gov (United States)

Yokoi, Fumiaki; Dang, Mai T.; Zhou, Tong; Li, Yuqing

2012-01-01

DYT11 myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonic symptoms and caused by mutations in paternally expressed SGCE, which codes for ɛ-sarcoglycan. Paternally inherited Sgce heterozygous knock-out (KO) mice exhibit motor deficits and spontaneous myoclonus. Abnormal nuclear envelopes have been reported in cellular and mouse models of early-onset DYT1 generalized torsion dystonia; however, the relationship between the abnormal nuclear envelopes and motor symptoms are not clear. Furthermore, it is not known whether abnormal nuclear envelope exists in non-DYT1 dystonia. In the present study, abnormal nuclear envelopes in the striatal medium spiny neurons (MSNs) were found in Sgce KO mice. To analyze whether the loss of ɛ-sarcoglycan in the striatum alone causes abnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-specific Sgce conditional KO (Sgce sKO) mice and analyzed their phenotypes. Sgce sKO mice exhibited motor deficits in both beam-walking and accelerated rotarod tests, while they did not exhibit abnormal nuclear envelopes, alteration in locomotion, or myoclonus. The results suggest that the loss of ɛ-sarcoglycan in the striatum contributes to motor deficits, while it alone does not produce abnormal nuclear envelopes or myoclonus. Development of therapies targeting the striatum to compensate for the loss of ɛ-sarcoglycan function may rescue the motor deficits in DYT11 M-D patients. PMID:22080833

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

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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.

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

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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.

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

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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

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

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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.

Tyrosine hydroxylase immunoreactivity and [3H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia

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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.)

Reduced striatal D2 receptor binding in myoclonus-dystonia

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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.)

Phenotypic features of myoclonus-dystonia in three kindreds

NARCIS (Netherlands)

Doheny, D. O.; Brin, M. F.; Morrison, C. E.; Smith, C. J.; Walker, R. H.; Abbasi, S.; Müller, B.; Garrels, J.; Liu, L.; de Carvalho Aguiar, P.; Schilling, K.; Kramer, P.; de Leon, D.; Raymond, D.; Saunders-Pullman, R.; Klein, C.; Bressman, S. B.; Schmand, B.; Tijssen, M. A. J.; Ozelius, L. J.; Silverman, J. M.

2002-01-01

Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the E-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one

Adaptation of feedforward movement control is abnormal in patients with cervical dystonia and tremor.

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Avanzino, Laura; Ravaschio, Andrea; Lagravinese, Giovanna; Bonassi, Gaia; Abbruzzese, Giovanni; Pelosin, Elisa

2018-01-01

It is under debate whether the cerebellum plays a role in dystonia pathophysiology and in the expression of clinical phenotypes. We investigated a typical cerebellar function (anticipatory movement control) in patients with cervical dystonia (CD) with and without tremor. Twenty patients with CD, with and without tremor, and 17 healthy controls were required to catch balls of different load: 15 trials with a light ball, 25 trials with a heavy ball (adaptation) and 15 trials with a light ball (post-adaptation). Arm movements were recorded using a motion capture system. We evaluated: (i) the anticipatory adjustment (just before the impact); (ii) the extent and rate of the adaptation (at the impact) and (iii) the aftereffect in the post-adaptation phase. The anticipatory adjustment was reduced during adaptation in CD patients with tremor respect to CD patients without tremor and controls. The extent and rate of adaptation and the aftereffect in the post-adaptation phase were smaller in CD with tremor than in controls and CD without tremor. Patients with cervical dystonia and tremor display an abnormal predictive movement control. Our findings point to a possible role of cerebellum in the expression of a clinical phenotype in dystonia. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

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

Structural white matter abnormalities in patients with idiopathic dystonia

NARCIS (Netherlands)

Bonilha, Leonardo; de Vries, Paulien M.; Vincent, Diana J.; Rorden, Chris; Morgan, Paul S.; Hurd, Mark W.; Besenski, Nada; Bergmann, Kenneth J.; Hinson, Vanessa K.

2007-01-01

We investigated whether structural white matter abnormalities, in the form of disruption of axonal coherence and integrity as measured with diffusion tensor imaging (DTI), constitute an underlying pathological mechanism of idiopathic dystonia (ID), independent of genotype status. We studied seven

Tyrosine hydroxylase immunoreactivity and [{sup 3}H]WIN 35,428 binding to the dopamine transporter in a hamster model of idiopathic paroxysmal dystonia

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Nobrega, J.N. [Neuroimaging Research Section, Clarke Institute of Psychiatry, Toronto (Canada); Gernert, M.; Loescher, W. [Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Buenteweg 17, D-30559 Hannover (Germany); Raymond, R.; Belej, T. [Neuroimaging Research Section, Clarke Institute of Psychiatry, Toronto (Canada); Richter, A. [Department of Pharmacology, Toxicology and Pharmacy, School of Veterinary Medicine, Buenteweg 17, D-30559 Hannover (Germany)

1999-08-01

Recent pharmacological studies and receptor analyses have suggested that dopamine neurotransmission is enhanced in mutant dystonic hamsters (dt{sup 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 [{sup 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 [{sup 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 [{sup 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 reserved000.

Functional MRI study of response inhibition in myoclonus dystonia

NARCIS (Netherlands)

van der Salm, S.M.A.; van der Meer, J.N.; Nederveen, A.J.; Veltman, D.J.; van Rootselaar, A.F.; Tijssen, M.A.J.

2013-01-01

Background: Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient

Functional MRI study of response inhibition in myoclonus dystonia

NARCIS (Netherlands)

van der Salm, Sandra M. A.; van der Meer, Johan N.; Nederveen, Aart J.; Veltman, Dick J.; van Rootselaar, Anne-Fleur; Tijssen, Marina A. J.

Background: Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient

Disrupted thalamic prefrontal pathways in patients with idiopathic dystonia

NARCIS (Netherlands)

Bonilha, Leonardo; de Vries, Paulien M.; Hurd, Mark W.; Rorden, Chris; Morgan, Paul S.; Besenski, Nada; Bergmann, Kenneth J.; Hinson, Vanessa K.

There are quantifiable abnormalities in water diffusion properties of the white matter in thalamic and prefrontal areas in patients with idiopathic dystonia (ID). However, it is unclear which pathways are disrupted in these patients. Using probabilistic tractography of high resolution DTI, we

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

Functional MRI study of response inhibition in myoclonus dystonia

NARCIS (Netherlands)

van der Salm, Sandra M. A.; van der Meer, Johan N.; Nederveen, Aart J.; Veltman, Dick J.; van Rootselaar, Anne-Fleur; Tijssen, Marina A. J.

2013-01-01

Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient inhibitory motor

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

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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.

Stuttering in Parkinson's disease after deep brain stimulation: A note on dystonia and low-frequency stimulation.

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Mendonça, Marcelo D; Barbosa, Raquel; Seromenho-Santos, Alexandra; Reizinho, Carla; Bugalho, Paulo

2018-04-01

Stuttering, a speech fluency disorder, is a rare complication of Deep Brain Stimulation (DBS) in Parkinson's Disease (PD). We report a 61 years-old patient with PD, afflicted by severe On and Off dystonia, treated with Subthalamic Nucleus DBS that developed post-DBS stuttering while on 130 Hz stimulation. Stuttering reduction was noted when frequency was changed to 80 Hz, but the previously observed dystonia improvement was lost. There are no reports in literature on patients developing stuttering with low-frequency stimulation. We question if low-frequency stimulation could have a role for managing PD's post-DBS stuttering, and notice that stuttering improvement was associated with dystonia worsening suggesting that they are distinct phenomena. Copyright © 2018 Elsevier Ltd. All rights reserved.

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

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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.

Botulinum toxin type A versus botulinum toxin type B for cervical dystonia.

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Duarte, Gonçalo S; Castelão, Mafalda; Rodrigues, Filipe B; Marques, Raquel E; Ferreira, Joaquim; Sampaio, Cristina; Moore, Austen P; Costa, João

2016-10-26

This is an update of a Cochrane review first published in 2003. Cervical dystonia is the most common form of focal dystonia and is a disabling disorder characterised by painful involuntary head posturing. There are two available formulations of botulinum toxin, with botulinum toxin type A (BtA) usually considered the first line therapy for this condition. Botulinum toxin type B (BtB) is an alternative option, with no compelling theoretical reason why it might not be as- or even more effective - than BtA. To compare the efficacy, safety and tolerability of botulinum toxin type A (BtA) versus botulinum toxin type B (BtB) in people with cervical dystonia. To identify studies for this review we searched the Cochrane Movement Disorders Group Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, reference lists of articles and conference proceedings. All elements of the search, with no language restrictions, were last run in October 2016. Double-blind, parallel, randomised, placebo-controlled trials (RCTs) comparing BtA versus BtB in adults with cervical dystonia. Two independent authors assessed records, selected included studies, extracted data using a paper pro forma, and evaluated the risk of bias. We resolved disagreements by consensus or by consulting a third author. We performed meta-analyses using the random-effects model, for the comparison BtA versus BtB to estimate pooled effects and corresponding 95% confidence intervals (95% CI). No prespecified subgroup analyses were carried out. The primary efficacy outcome was improvement on any validated symptomatic rating scale, and the primary safety outcome was the proportion of participants with adverse events. We included three RCTs, all new to this update, of very low to low methodological quality, with a total of 270 participants.Two studies exclusively enrolled participants with a known positive response to BtA treatment. This raises concerns of population enrichment

Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).

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Lee, L V; Munoz, E L; Tan, K T; Reyes, M T

2001-12-01

Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the 3rd or 4th decade, spreading to generalisation within two to five years. The dystonia coexists or is replaced by parkinsonism usually beyond the 10th year of illness. No treatment has been found to be effective. Neuroimaging shows caudate and putamenal atrophy in patients reaching the parkinsonian stage. Neuropathology reveals pronounced atrophy of the caudate and putamen, mostly in the cases with long standing illness. The sex linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1, with one group mapping the XDP gene to a < 350 kb locus in the DXS 7117-DXS 559 region.

Mutant human torsinA, responsible for early-onset dystonia, dominantly suppresses GTPCH expression, dopamine levels and locomotion in Drosophila melanogaster

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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

Evaluation of AZD1446 as a Therapeutic in DYT1 Dystonia

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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.

Dopamine Dysfunction in DYT1 Dystonia

Science.gov (United States)

2015-07-01

20mM Tris-Cl (pH 7.6), 137 mM NaCl, 0.1% Tween 20, the membranes were incubated overnight at 4°C with rabbit anti-tor- sinA antibody (1:500; Abcam...during the juvenile period to changes in tor- sinA expression or function. Another consideration is the potential compensatory effects of torsinB, which...Buckley AC, Burdette AJ, et al. (2010) Chemical enhancement of tor- sinA function in cell and animal models of torsion dystonia. Dis Model Mech 3: 386–396

Screening for Cognitive Impairments in Primary Blepharospasm.

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Yang, Jing; Song, Wei; Wei, Qianqian; Ou, Ruwei; Cao, Bei; Liu, Wanglin; Shao, Na; Shang, Hui-Fang

2016-01-01

Studies have reported that non-motor symptoms are an important component of primary dystonia. However, evidence supporting cognitive impairment in primary dystonia is limited and contradictory. We applied the Chinese version of the Addenbrooke's Cognitive Examination-Revised and the Mini-Mental State Examination (MMSE) to screen for cognitive impairment in patients with primary blepharospasm. In addition, we investigated the relationship between performance on the Addenbrooke's Cognitive Examination-Revised and quality of life as measured by the Medical Outcomes Study 36-item Short-Form (SF36). The study included 68 primary blepharospasm patients and 68 controls matched by age, sex and education. The prevalence of cognitive deficits was 22.0% and 32.3% in primary blepharospasm patients group, as measured by the MMSE and the Addenbrooke's Cognitive Examination-Revised, respectively. Primary blepharospasm patents had a broad range of cognitive deficits, with the most frequently affected domains being visuospatial function (30.9%) and language (30.9%), followed by memory (27.9%), orientation/attention (26.4%) and verbal fluency (22.0%). Patients with cognitive deficits had lower total SF36 scores, especially in the subdomains of physical functioning, role-physical and social functioning, compared to those without cognitive deficits. Scores on the Addenbrooke's Cognitive Examination-Revised were significantly correlated with both the SF36 scores and the scores on the subdomains of physical functioning and social functioning. Some patients with primary blepharospasm have cognitive deficits. Poor performance on the Addenbrooke's Cognitive Examination-Revised is related to poorer quality of life.

Rating scales for dystonia in cerebral palsy: reliability and validity.

Science.gov (United States)

Monbaliu, E; Ortibus, E; Roelens, F; Desloovere, K; Deklerck, J; Prinzie, P; de Cock, P; Feys, H

2010-06-01

This study investigated the reliability and validity of the Barry-Albright Dystonia Scale (BADS), the Burke-Fahn-Marsden Movement Scale (BFMMS), and the Unified Dystonia Rating Scale (UDRS) in patients with bilateral dystonic cerebral palsy (CP). Three raters independently scored videotapes of 10 patients (five males, five females; mean age 13 y 3 mo, SD 5 y 2 mo, range 5-22 y). One patient each was classified at levels I-IV in the Gross Motor Function Classification System and six patients were classified at level V. Reliability was measured by (1) intraclass correlation coefficient (ICC) for interrater reliability, (2) standard error of measurement (SEM) and smallest detectable difference (SDD), and (3) Cronbach's alpha for internal consistency. Validity was assessed by Pearson's correlations among the three scales used and by content analysis. Moderate to good interrater reliability was found for total scores of the three scales (ICC: BADS=0.87; BFMMS=0.86; UDRS=0.79). However, many subitems showed low reliability, in particular for the UDRS. SEM and SDD were respectively 6.36% and 17.72% for the BADS, 9.88% and 27.39% for the BFMMS, and 8.89% and 24.63% for the UDRS. High internal consistency was found. Pearson's correlations were high. Content validity showed insufficient accordance with the new CP definition and classification. Our results support the internal consistency and concurrent validity of the scales; however, taking into consideration the limitations in reliability, including the large SDD values and the content validity, further research on methods of assessment of dystonia is warranted.

Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in dystonia cases vs. controls.

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Louis, Elan D; Factor-Litvak, Pam; Michalec, Monika; Jiang, Wendy; Zheng, Wei

2014-09-01

Harmane (1-methyl-9H-pyrido[3,4-b]indole) (HA) is a potent neurotoxin that has been linked to two neurological diseases, essential tremor and Parkinson's disease. Blood harmane concentrations [HA] are elevated in patients with both diseases. An important question is whether HA is specifically linked with these diseases or alternatively, is a non-specific marker of neurological illness. We assessed whether blood [HA] was elevated in patients with a third neurological disease, dystonia, comparing them to controls. Blood [HA] was quantified by high performance liquid chromatography. Subjects comprised 104 dystonia cases and 107 controls. Mean log blood [HA] in dystonia cases was similar to that of controls (0.41±0.51g(-10)/ml vs. 0.38±0.61g(-10)/ml, t=0.42, p=0.68). In unadjusted and adjusted logistic regression analyses, log blood [HA] was not associated with the outcome (diagnosis of dystonia vs. control): odds ratio (OR)unadjusted=1.11, 95% confidence interval (CI)=0.69-1.79, p=0.68; ORadjusted=1.07, 95% CI=0.58-1.97, p=0.84. In contrast to the elevated blood [HA] that has been reported in patients with essential tremor and Parkinson's disease, our data demonstrate that blood [HA] was similar in patients with dystonia and controls. These findings provide the first support for the notion that an elevated blood [HA] is not a broad feature of neurological disease, and may be a specific feature of certain tremor disorders. Copyright © 2014 Elsevier Inc. All rights reserved.

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,

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,

Infantile parkinsonism-dystonia: a dopamine “transportopathy”

OpenAIRE

Blackstone, Craig

2009-01-01

The dopamine transporter (DAT) retrieves the neurotransmitter dopamine from the synaptic cleft at dopaminergic synapses. Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine. In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by lo...

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

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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.

Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

NARCIS (Netherlands)

Rijn, Monica Adriana van

2010-01-01

The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most

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

Coordination of Reach-to-Grasp Kinematics in Individuals With Childhood-Onset Dystonia Due to Hemiplegic Cerebral Palsy.

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Kukke, Sahana N; Curatalo, Lindsey A; de Campos, Ana Carolina; Hallett, Mark; Alter, Katharine E; Damiano, Diane L

2016-05-01

Functional reaching is impaired in dystonia. Here, we analyze upper extremity kinematics to quantify timing and coordination abnormalities during unimanual reach-to-grasp movements in individuals with childhood-onset unilateral wrist dystonia. Kinematics were measured during movements of both upper limbs in a patient group ( n = 11, age = 17.5 ±5 years), and a typically developing control group ( n = 9, age = 16.6 ±5 years). Hand aperture was computed to study the coordination of reach and grasp. Time-varying joint synergies within one upper limb were calculated using a novel technique based on principal component analysis to study intra-limb coordination. In the non-dominant arm, results indicate reduced coordination between reach and grasp in patients who could not lift the grasped object compared to those who could lift it. Lifters exhibit incoordination in distal upper extremity joints later in the movement and non-lifters lacked coordination throughout the movement and in the whole upper limb. The amount of atypical coordination correlates with dystonia severity in patients. Reduced coordination during movement may reflect deficits in the execution of simultaneous movements, motor planning, or muscle activation. Rehabilitation efforts can focus on particular time points when kinematic patterns deviate abnormally to improve functional reaching in individuals with childhood-onset dystonia.

[THE EFFECTIVENESS OF THE MODERN IMMUNOACTIVE PREPARATION IMMUNOFAN FOR MEDICAL REHABILITATION OF PATIENTS WITH NONALCOHOLIC STEATOHEPATITISIS AGAINST NEUROCIRCULATORY DYSTONIA, AFTER INFECTIOUS MONONUCLEOSIS].

Science.gov (United States)

Yugan, Y L; Sotskaya, Y A; Chabarova, A B

2015-01-01

The presence of the expressed changes of cellular immunity, namely T-lymphopenia, disbalance of subpopulation structure of T-lymphocytes with primary downstroke T-helpers/inductor (CD4+), decrease immunoregulatory index CD4/CD8, and functional activity of T-cells is characteristic for the patients with nonalcoholic steatohepatitis, against neurocirculatory dystonia, after infectious mononucleosis. Including in a medical rehabilitation of such patients immunofan promoted practically full correction of the revealed infringements on the part of a cellular link of immunity.

Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

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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

Torsin Mediates Primary Envelopment of Large Ribonucleoprotein Granules at the Nuclear Envelope

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Vahbiz Jokhi

2013-04-01

Full Text Available A previously unrecognized mechanism through which large ribonucleoprotein (megaRNP granules exit the nucleus is by budding through the nuclear envelope (NE. This mechanism is akin to the nuclear egress of herpes-type viruses and is essential for proper synapse development. However, the molecular machinery required to remodel the NE during this process is unknown. Here, we identify Torsin, an AAA-ATPase that in humans is linked to dystonia, as a major mediator of primary megaRNP envelopment during NE budding. In torsin mutants, megaRNPs accumulate within the perinuclear space, and the messenger RNAs contained within fail to reach synaptic sites, preventing normal synaptic protein synthesis and thus proper synaptic bouton development. These studies begin to establish the cellular machinery underlying the exit of megaRNPs via budding, offer an explanation for the “nuclear blebbing” phenotype found in dystonia models, and provide an important link between Torsin and the synaptic phenotypes observed in dystonia.

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,

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

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Yokoi, Fumiaki; Dang, Mai T; Yang, Guang; Li, Jindong; Doroodchi, Atbin; Zhou, Tong; Li, Yuqing

2012-02-01

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ɛ-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally inherited Sgce heterozygous knockout (Sgce KO) mice and reported that they had myoclonus and motor coordination and learning deficits in the beam-walking test. However, the specific brain regions that contribute to these phenotypes have not been identified. Since ɛ-sarcoglycan is highly expressed in the cerebellar Purkinje cells, here we examined the nuclear envelope in these cells using a transmission electron microscope and found that they are abnormal in Sgce KO mice. Our results put DYT11 M-D in a growing family of nuclear envelopathies. To analyze the effect of loss of ɛ-sarcoglycan function in the cerebellar Purkinje cells, we produced paternally inherited cerebellar Purkinje cell-specific Sgce conditional knockout (Sgce pKO) mice. Sgce pKO mice showed motor learning deficits, while they did not show abnormal nuclear envelope in the cerebellar Purkinje cells, robust motor deficits, or myoclonus. The results suggest that ɛ-sarcoglycan in the cerebellar Purkinje cells contributes to the motor learning, while loss of ɛ-sarcoglycan in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordination deficits. Copyright © 2011 Elsevier B.V. All rights reserved.

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

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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.

Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia

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Silvia Rota

2014-12-01

Full Text Available Friedreich ataxia (FRDA is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is caused by a homozygous guanine-adenine-adenine (GAA trinucleotide repeat expansion in intron 1 of the frataxin gene (FXN on chromosome 9q13-q21.1. Onset is usually in the first or second decade of life; however, late-onset cases of Freidreich ataxia (LOFA, after the age of 25 years, and very late-onset cases of Freidreich ataxia (VLOFA, after the age of 40 years, have been reported. VLOFA is quite rare and usually presents a milder progression of the disease. We report the case of a 64-year-old woman affected with VLOFA whose first symptoms (balance and gait disturbances occurred at the age of 44 years. At the age of 62 years, she started complaining of a slowly progressive dysphonia showing the clinical aspects of laryngeal dystonia. Molecular analysis showed a 210- and 230-trinucleotide GAA repeat expansion in the two alleles of the FXN gene. Laryngeal dystonia has been reported only in very few cases of ataxia syndrome and never before in FRDA patients. It may represent a rare clinical manifestation of VLOFA thus confirming the high variability of the clinical spectrum of FRDA.

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.

Multiday Transcranial Direct Current Stimulation Causes Clinically Insignificant Changes in Childhood Dystonia: A Pilot Study.

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Bhanpuri, Nasir H; Bertucco, Matteo; Young, Scott J; Lee, Annie A; Sanger, Terence D

2015-10-01

Abnormal motor cortex activity is common in dystonia. Cathodal transcranial direct current stimulation may alter cortical activity by decreasing excitability while anodal stimulation may increase motor learning. Previous results showed that a single session of cathodal transcranial direct current stimulation can improve symptoms in childhood dystonia. Here we performed a 5-day, sham-controlled, double-blind, crossover study, where we measured tracking and muscle overflow in a myocontrol-based task. We applied cathodal and anodal transcranial direct current stimulation (2 mA, 9 minutes per day). For cathodal transcranial direct current stimulation (7 participants), 3 subjects showed improvements whereas 2 showed worsening in overflow or tracking error. The effect size was small (about 1% of maximum voluntary contraction) and not clinically meaningful. For anodal transcranial direct current stimulation (6 participants), none showed improvement, whereas 5 showed worsening. Thus, multiday cathodal transcranial direct current stimulation reduced symptoms in some children but not to a clinically meaningful extent, whereas anodal transcranial direct current stimulation worsened symptoms. Our results do not support transcranial direct current stimulation as clinically viable for treating childhood dystonia. © The Author(s) 2015.

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)

Genetic HLA Associations in Complex Regional Pain Syndrome With and Without Dystonia

NARCIS (Netherlands)

van Rooijen, D.E.; Roelen, D.L.; Verduijn, W.; Haasnoot, G.W.; Huygen, F.J.P.M.; Perez, R.S.G.M.; Claas, F.H.J.; Marinus, J.; van Hilten, J.J.; van den Maagdenberg, A.M.J.M.

2012-01-01

We previously showed evidence for a genetic association of the human leukocyte antigen (HLA) system and complex regional pain syndrome (CRPS) with dystonia. Involvement of the HLA system suggests that CRPS has a genetic component with perturbed regulation of inflammation and neuroplasticity as

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

DEFF Research Database (Denmark)

Dahl, Sofia; Altenmüller, Eckart

be a revealing sign of motor control problems, such as focal dystonia (Jabusch, Vauth & Altenmüller, 2004). The "breakdown" in motor control can therefore be expected to result in more pronounced changes in movement pattern of the affected arm for these patients. Because drumming movements tend to be symmetrical....... 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...

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

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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 �

Pediatric writer's cramp in myoclonus-dystonia: Maternal imprinting hides positive family history

NARCIS (Netherlands)

Gerrits, M. C. F.; Foncke, E. M. J.; Koelman, J. H. T. M.; Tijssen, M. A. J.

2009-01-01

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due

Pediatric writer's cramp in myoclonus-dystonia : Maternal imprinting hides positive family history

NARCIS (Netherlands)

Gerrits, M. C. F.; Foncke, E. M. J.; Koelman, J. H. T. M.; Tijssen, M. A. J.

Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due

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.

A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

DEFF Research Database (Denmark)

Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

2015-01-01

INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrom...

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

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

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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.

Interdisciplinary recognizing and managing of drug-induced tardive oromandibular dystonia: two case reports

DEFF Research Database (Denmark)

Bakke, Merete; Henriksen, Tove; Biernat, Heidi Bryde

2018-01-01

Key Clinical Message Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition. The orofacial dysfunction may go unrecognized in a neurological se...

Focal Dystonia in Hemiplegic Upper Limb: Favorable Effect of Cervical Microsurgical DREZotomy Involving the Ventral Horn - A Report of 3 Patients.

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Sindou, Marc; Georgoulis, George

2016-01-01

Focal dystonia in hemiplegic upper limbs is poorly responsive to medications or classical neurosurgical treatments. Only repeated botulinum toxin injections show efficacy, but in most severe cases effects are transient. Cervical DREZ lesioning, which has proven efficacious in hyperspasticity when done deeply (3-5 mm) in the dorsal horn, may have favorable effects on the dystonic component when performed down to, and including, the base of the ventral horn (5-6 mm in depth). Three patients underwent deep cervical microsurgical DREZotomy (MDT) for focal dystonia in the upper limb. Hypertonia was reduced, and sustained dystonic postures were suppressed. Residual motor function (hidden behind hypertonia) came to the surface. Cervical MDT may be a useful armamentarium for treating refractory focal dystonia in the upper limb. © 2016 S. Karger AG, Basel.

Relationships between Serotonin Transporter Binding in the Raphe Nuclei, Basal Ganglia, and Hippocampus with Clinical Symptoms in Cervical Dystonia : A [C]DASB Positron Emission Tomography Study

NARCIS (Netherlands)

Smit, Marenka; Vállez García, David; de Jong, Bauke M; Zoons, Evelien; Booij, Jan; Dierckx, Rudi A; Willemsen, Antoon T; de Vries, Erik F; Bartels, Anna L; Tijssen, Marina A

2018-01-01

Purpose: Alterations of the central serotonergic system have been implicated in the pathophysiology of dystonia. In this molecular imaging study, we assessed whether altered presynaptic serotonin transporter (SERT) binding contributes to the pathophysiology of cervical dystonia (CD), concerning both

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

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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.

Selective decrease in central nervous system serotonin turnover in children with dopa-nonresponsive dystonia.

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Assmann, Birgit; Köhler, Martin; Hoffmann, Georg F; Heales, Simon; Surtees, Robert

2002-07-01

Childhood dystonia that does not respond to treatment with levodopa (dopa-nonresponsive dystonia, DND) has an unclear pathogenesis and is notoriously difficult to treat. To test the hypothesis that there may be abnormalities in serotonin turnover in DND we measured cerebrospinal fluid (CSF) concentrations of homovanillic (HVA) and 5-hydroxyindoleacetic (HIAA) acids, metabolites of dopamine and serotonin, respectively, in 18 children with dystonia not responsive to levodopa. These were combined with a reference population of 85 children with neurologic or metabolic disease known not to affect dopamine or serotonin metabolism. Because of the known natural age-related decrement in HVA and HIAA concentrations, the results were analyzed using multiple regression using age and DND as predictors of CSF HIAA and HVA concentrations. DND was a highly significant predictor of CSF HIAA concentration (p model, the geometric mean ratio of CSF HIAA in DND compared with the reference range was 0.53 whereas that for CSF HVA was 0.95. We also analyzed CSF HIAA/HVA ratios. After fitting a regression model, we found no dependence on age, and the mean of CSF HIAA/HVA in DND was 0.28 whereas that for the reference range was 0.49 (p < 0.001). We conclude that a significant number of children with DND have reduced CNS serotonin turnover. Treatment with drugs that increase serotonin concentration in the synaptic cleft should be considered in this group of patients.

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

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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.

Functional Aspects of Gait in Essential Tremor: A Comparison with Age-Matched Parkinson's Disease Cases, Dystonia Cases, and Controls.

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Louis, Elan D; Rao, Ashwini K

2015-01-01

An understanding of the functional aspects of gait and balance has wide ramifications. Individuals with balance disorders often restrict physical activity, travel, and social commitments to avoid falling, and loss of balance confidence, itself, is a source of disability. We studied the functional aspects of gait in patients with essential tremor (ET), placing their findings within the context of two other neurological disorders (Parkinson's disease [PD] and dystonia) and comparing them with age-matched controls. We administered the six-item Activities of Balance Confidence (ABC-6) Scale and collected data on number of falls and near-falls, and use of walking aids in 422 participants (126 ET, 77 PD, 46 dystonia, 173 controls). Balance confidence was lowest in PD, intermediate in ET, and relatively preserved in dystonia compared with controls. This ordering reoccurred for each of the six ABC-6 items. The number of near-falls and falls followed a similar ordering. Use of canes, walkers, and wheelchairs was elevated in ET and even greater in PD. Several measures of balance confidence (ABC-6 items 1, 4, 5, and 6) were lower in torticollis cases than in those with blepharospasm, although the two groups did not differ with respect to falls or use of walking aids. Lower balance confidence, increased falls, and greater need for walking aids are variably features of a range of movement disorder patients compared to age-matched controls. While most marked among PD patients, these issues affected ET patients as well and, to a small degree, some patients with dystonia.

Palliative Sedation and What Constitutes Active Dying: A Case of Severe Progressive Dystonia and Intractable Pain.

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Strand, Jacob J; Feely, Molly A; Kramer, Neha M; Moeschler, Susan M; Swetz, Keith M

2016-05-01

We present the case of a 34-year-old woman with Klippel-Feil syndrome who developed progressive generalized dystonia of unclear etiology, resulting in intractable pain despite aggressive medical and surgical interventions. Ultimately, palliative sedation was required to relieve suffering. Herein, we describe ethical considerations including defining sedation, determining prognosis in the setting of an undefined neurodegenerative condition, and use of treatments that concurrently might prolong or alter end-of-life trajectory. We highlight pertinent literature and how it may be applied in challenging and unique clinical situations. Finally, we discuss the need for expert multidisciplinary involvement when implementing palliative sedation and illustrate that procedures and rules need to be interpreted to deliver optimal patient-centered plan of care. © The Author(s) 2014.

Loss of inhibition in sensorimotor networks in focal hand dystonia

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Cecile Gallea

2018-01-01

Interpretation: Impairments of GABAergic neurotransmission in the cerebellum and the sensorimotor cortical areas could explain different aspects of loss of inhibitory control in FHD, the former being involved in maladaptive plasticity, the latter in surround inhibition. Reorganization of the inferior prefrontal cortices, part of the associative network, might be compensatory for the loss of inhibitory control in sensorimotor circuits. These findings suggest that cerebellar and cerebral GABAergic abnormalities could play a role in the functional imbalance of striato-cerebello-cortical loops in dystonia.

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

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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

[sup 123]I-IBZM SPECT: Reconstruction methodology and results in Parkinsonism and dystonia

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Berding, G [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Gratz, K F [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Kolbe, H [Neurologische Klinik mit Klinischer Neurophysiologie, Medizinische Hochschule Hannover (Germany); Meyer, G J [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany); Dengler, R [Neurologische Klinik mit Klinischer Neurophysiologie, Medizinische Hochschule Hannover (Germany); Knoop, B O [Abt. fuer Nuklearmesstechnik und Strahlenschutz, Medizinische Hochschule Hannover (Germany); Hundeshagen, H [Abt. fuer Nuklearmedizin und Spezielle Biophysik, Medizinische Hochschule Hannover (Germany)

1994-10-01

In 58 patients with Parkinsonism or dystonia striatal dopamine D[sub 2] receptors were investigated using [sup 123]I-iodobenzamide ([sup 123]I-IBZM) single-photon emission computed tomography (SPECT). The influence of SPECT reconstruction methodology on semiquantification and the clinical value of [sup 123]I-IBZM SPECT were evaluated. Delineation of the striatal uptake and striatum/frontal cortex (ST/FC) ratios were improved by the use of compensation procedures for scatter and attenuation as well as the choice of an adequate filter. Satisfactory results were achieved using a Metz prefilter with a comparatively high order number (i.e. high cut-off and low suppression of higher frequencies via roll-off). Regarding clinical diagnoses it was not possible to differentiate between advanced idiopathic Parkinson's disease (IP) and Parkinsonism of other aetiology (OP) on the basis of [sup 123]I-IBZM SPECT. But patients with IP and favourable response to L-Dopa showed significantly higher ST/FC ratios than those with fluctuating response. In patients with dystonia ST/FC ratios were significantly higher compared to patients with IP or OP. (orig.)

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.

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...

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...

Long-term effect of botulinum toxin on impairment and functional health in cervical dystonia

NARCIS (Netherlands)

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

1998-01-01

We investigated the long-term effect of botulinum toxin type A (BTA) on impairment as well as functional health in terms of disability, handicap, and quality of life in 64 patients with cervical dystonia. These patients, who first participated in a double-blind trial, were followed for another 12

History of the 'geste antagoniste' sign in cervical dystonia.

Science.gov (United States)

Poisson, A; Krack, P; Thobois, S; Loiraud, C; Serra, G; Vial, C; Broussolle, E

2012-08-01

The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify the origin of the geste antagoniste sign; (2) to identify the factors that led to its diffusion in the international literature; (3) to follow the evolution of that term across the twentieth century. We used medical and neurological French, German and English literature of the late nineteenth and early twentieth centuries, and the PubMed database by entering the terms geste antagoniste, antagonistic gesture and sensory trick. The geste antagoniste sign is a legacy of the Paris Neurological School of the end of the nineteenth century. The term was introduced by Meige and Feindel in their 1902 book on tics, written in the vein of their master, Brissaud, who first described this sign in 1893. The almost immediate translations of this book by Giese into German and Kinnier Wilson into English contributed to the rapid spreading of the term geste antagoniste, which is still in use worldwide today. The term antagonistic gesture is the translation proposed by Kinnier Wilson, which also led to the use of the term geste antagonistique. The geste antagoniste sign has long been considered a solid argument for the psychogenic origins of dystonia until the 1980s when Marsden made strong arguments for its organic nature.

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

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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.

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 ...

Primary prevention in psychiatry in general hospitals in South Asia

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Sood, Mamta; Chadda, Rakesh Kumar; Kallivayalil, Roy Abraham

2017-01-01

The focus of primary prevention is on reducing the disease incidence. Primary prevention in mental health has been given minimal priority in low-resource settings with no significant investments. General hospitals are one of the main providers of mental health services in South Asia. This paper focuses on primary prevention activities, which can be undertaken in a general hospital in South Asia with abysmally low-mental health resources. For implementing primary prevention in psychiatry, a general hospital may be conceptualized as a population unit, located in a well-populated area with easy accessibility where different kinds of communities, for example, students and resident doctors, consultants, patients and their caregivers, and paramedical, nursing, administrative and other supportive staff, coexist and have varied functions. All the functional components of the general hospital psychiatric units (GHPUs) offer scope for introducing primary preventive psychiatry services. Psychiatrists in GHPUs can lead efforts for primary prevention in mental health in the hospital by employing strategies in the framework of universal, selective, and indicated prevention. The preventive strategies could be targeted at the patients visiting the hospital for various health services and their caregivers, employees, and the trainees. Similar principles can be employed in teaching and training. PMID:29497199

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

81297 (SKF) and acute dystonia induced by the dopamine D(2) receptor antagonist haloperidol in Cebus apella monkeys. The monkeys were sensitised to EPS by prior exposure to D(2) receptor antagonists. SKF (0.3 mg/kg) was administered alone and in combination with the CB(1) agonist CP55,940 (0.......0025-0.01 mg/kg) or the CB(1) antagonist SR141716A (0.25-0.75 mg/kg). Haloperidol (individual doses at 0.01-0.02 mg/kg) was administered alone and in combination with CP55,940 (0.005 or 0.01 mg/kg) or SR141716A (0.5 or 0.75 mg/kg). Subsequently, the monkeys were videotaped, and the recordings were rated...... for oral dyskinesia or dystonia. SKF-induced oral dyskinesia was dose-dependently reduced by CP55,940, with no effect of SR141716A. Haloperidol-induced dystonia was not affected by either CP55,940 or SR141716A....

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.

Primary health eye care knowledge among general practitioners ...

African Journals Online (AJOL)

Primary health eye care knowledge among general practitioners working in the Cape Town metropole. M Van Zyl, N Fernandes, G Rogers, N Du Toit. Abstract. Aim: The main purpose of this study was to determine whether general practitioners (GPs) in the Cape Town metropole have sufficient knowledge to diagnose and ...

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

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

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...cerebellar output in the genetically dystonic rat . Adv Neurol. 1998;78:63–78. 61. LeDoux MS, Lorden JF, Ervin JM. Cerebellectomy eliminates the motor ...experiments and preliminary recordings from the superior colliculus. 15. SUBJECT TERMS Dystonia, benign essential blepharospasm, dry eye, motor

Primary non-adherence to prescribed medication in general practice

DEFF Research Database (Denmark)

Linnet, Kristján; Halldórsson, Matthías; Thengilsdóttir, Gudrún

2013-01-01

Primary non-adherence refers to the patient not redeeming a prescribed medication at some point during drug therapy. Research has mainly focused on secondary non-adherence. Prior to this study, the overall rate of primary non-adherence in general practice in Iceland was not known....

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

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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.

Gambling addiction in primary care: a survey of general practitioners ...

African Journals Online (AJOL)

Arun Kumar Agnihotri

experiences of, and confidence in, managing these patients in primary care, their perceived role and ... KEY WORDS: Gambling addiction; Primary care; General practitioners; Management ..... Petry NM, Blanco C, Auriacombe M, Borges.

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

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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.

Identifying Molecular Regulators of Neuronal Functions Affected in the Movement Disorder Dystonia

Science.gov (United States)

2015-08-01

trained by the PI for writing, revising and reviewing manuscripts in one-on-one sessions. He successfully presented a poster in an international...Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: Role of endogenous acetylcholine. Brain 2009;132:2336–2349...Page 20 of 24 Right before usage , add 20 mg of trypsin (final concentration of 10 mg/ml) and 20 μl of DNase (final concentration of 750 units/ml) to 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.

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

Botulinum toxin as treatment for focal dystonia : a systematic review of the pharmaco-therapeutic and pharmaco-economic value

NARCIS (Netherlands)

Zoons, E.; Dijkgraaf, M. G. W.; Dijk, J. M.; van Schaik, I. N.; Tijssen, M. A.

2012-01-01

Focal dystonia is a common, invalidating neurologic condition characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures in one body part. Currently, botulinum toxin is the treatment of first choice. We performed a systematic review towards the

Botulinum toxin as treatment for focal dystonia: a systematic review of the pharmaco-therapeutic and pharmaco-economic value

NARCIS (Netherlands)

Zoons, E.; Dijkgraaf, M. G. W.; Dijk, J. M.; van Schaik, I. N.; Tijssen, M. A.

2012-01-01

Focal dystonia is a common, invalidating neurologic condition characterized by involuntary, sustained muscle contractions causing twisting movements and abnormal postures in one body part. Currently, botulinum toxin is the treatment of first choice. We performed a systematic review towards the

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.

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.

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 ...

[Rethinking the place of primary healthcare in France--role of general practice].

Science.gov (United States)

Gay, B

2013-06-01

Primary healthcare is poorly structured in France while it is well defined at the international level: it is the point of first medical contact of the population with the healthcare system. General practice is the clinical specialty oriented to primary healthcare. Data in the scientific literature highlight the need of refocusing the health system on primary care known to improve both morbi-mortality and care efficiency. In France, health authorities acknowledge general practitioners as playing a key role in the health care system: its time to move from intention to action. Structural changes are needed to achieve this reinforcement of primary healthcare: to re-orientate medical studies towards primary care; to develop research in primary care; to promote cooperation between care providers; to ease the daily workload of practitioners; to diversify methods of payment; to propose a guide for patient's use of primary care. The transformation of the healthcare system in France requires a real strategy of primary healthcare implementation. Regardless of financial constraints, it is possible to redistribute the resources towards ambulatory care. Strengthening the role of general practice and favoring its societal recognition will be the major stages of this change. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

General acteoside of rehmanniae leaves in the treatment of primary ...

African Journals Online (AJOL)

A total of 400 patients diagnosed with primary chronic glomerulonephritis were recruited from outpatient clinics and were randomly assigned to the treatment group (general acteoside of Rehmanniae leaves, two 200mg tablets, bid) or the control group (piperazine ferulate, four 50-mg tablets, bid ). The primary outcome

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

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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. 

The Cervical Dystonia Impact Profile (CDIP-58: Can a Rasch developed patient reported outcome measure satisfy traditional psychometric criteria?

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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.

Vegetative and hemodynamic responses to stress in adolescents with constitutional-exogenous obesity and vascular dystonia of hypertensive type

OpenAIRE

Larina, N.

2011-01-01

We studied the characteristics of central hemodynamics and autonomic responses to cold and psycho-emotional test in adolescents with obesity and vascular dystonia of hypertensive type. Various options for the autonomic responses accompanied by changes in central hemodynamics as a function of body weight have been identified.

The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

Science.gov (United States)

Sweney, Matthew T; Newcomb, Tara M; Swoboda, Kathryn J

2015-01-01

ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes. While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches. Copyright © 2015 Elsevier Inc. All rights reserved.

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

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...... strength and mass showed no difference between M-D patients and controls. Our findings indicate that patients with M-D have no signs or symptoms of muscle disease. This suggests a different role of the sarcoglycan complex epsilonbetagammadelta versus alphabetagammadelta complex in humans, as earlier...

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.

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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.

Primary intestinal lymphangiectasia with generalized warts.

Science.gov (United States)

Lee, Soon Jae; Song, Hyun Joo; Boo, Sun-Jin; Na, Soo-Young; Kim, Heung Up; Hyun, Chang Lim

2015-07-21

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy with lymphatic leakage into the small intestine. Dilated lymphatics in the small intestinal wall and mesentery are observed in this disease. Laboratory tests of PIL patients revealed hypoalbuminemia, lymphocytopenia, hypogammaglobulinemia and increased stool α-1 antitrypsin clearance. Cell-mediated immunodeficiency is also present in PIL patients because of loss of lymphocytes. As a result, the patients are vulnerable to chronic viral infection and lymphoma. However, cases of PIL with chronic viral infection, such as human papilloma virus-induced warts, are rarely reported. We report a rare case of PIL with generalized warts in a 36-year-old male patient. PIL was diagnosed by capsule endoscopy and colonoscopic biopsy with histological tissue confirmation. Generalized warts were observed on the head, chest, abdomen, back, anus, and upper and lower extremities, including the hands and feet of the patient.

An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria

Directory of Open Access Journals (Sweden)

Padma Balaji

2014-01-01

Full Text Available L-2-hydroxyglutaric aciduria (L-2-HGA, a neurometabolic disorder caused by mutations in the L-2 hydroxyglutarate dehydrogenase (L-2-HGDH gene, presents with psychomotor retardation, cerebellar ataxia, extrapyramidal symptoms, macrocephaly and seizures. Characteristic magnetic resonance imaging findings include subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus, putamen and caudate nucleus. The diagnosis can be confirmed by elevated urinary L-2 hydroxyglutaric acid and mutational analysis of the L-2-HGDH gene. We report two siblings with dystonia diagnosed by classical neuroimaging findings with elevated urinary 2 hydroxyglutaric acid. Riboflavin therapy has shown promising results in a subset of cases, thus highlighting the importance of making the diagnosis in these patients.

PET activation in basal ganglia disorders: Parkinson`s disease and dystonia; PET-Aktivierungsstudien bei Basalganglienerkrankungen: Morbus Parkinson und Dystonien

Energy Technology Data Exchange (ETDEWEB)

Ceballos-Baumann, A.O. [Neurologische Klinik, Technische Univ. Muenchen (Germany); Boecker, H. [Neurologische Klinik, Technische Univ. Muenchen (Germany); Conrad, B. [Neurologische Klinik, Technische Univ. Muenchen (Germany)

1997-03-01

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.) [Deutsch] Der Beitrag beschreibt verschiedene PET-Aktivierungsstudien mit motorischen Paradigmen (`joystick`-Bewegungen, Vorstellung von Bewegung, Schreiben) bei Bewegungsstoerungen, im wesentlichen bei Patienten mit Dystonie, einer Hyperkinese, und Morbus Parkinson als Hypokinese. Die experimentellen Befunde werden mit der Klinik in Bezug gebracht. Neue Untersuchungen vor und nach therapeutischen Interventionen, wie die stereotaktische Pallidotomie bei Parkinson und die Botulinum-Toxin-Therapie bei Schreibkrampf, werden beschrieben. Der Beitrag von PET-Aktivierungsstudien zum Verstaendnis der Pathophysiologie von Bewegungsstoerungen wird diskutiert. (orig.)

Clinical experience with patients with spasmodic dysphonia and primary Meige syndrome.

Science.gov (United States)

Pedrero-Escalas, María Fernanda; García-López, Isabel; Santiago-Pérez, Susana; Vivancos, Francisco; Gavilán, Javier

2018-04-28

Meige syndrome (MS) is part of the group of segmental cranial dystonias, which affect more than two cranial muscle groups. Specifically, blepharospasm is associated with another cranial dystonia (oromandibular, cervical or laryngeal). The aim of this paper was to report our experience in patients with spasmodic dysphonia (SD) associated with primary MS. A retrospective study involving 8 patients between May 2010 and June 2015. Variables recorded were: age, sex, associated dystonia, electromyographic pattern in laryngeal muscles and treatment given. Outcomes after treatment were assessed using GRBAS(i) scale and VHI-30 questionnaire, always provided by the same examiner. Fifty-six patients with MS were treated in the Neurology Department. Eight patients of 56 were diagnosed with SD (prevalence of 14%). All of our patients had adductor SD. The median age was 71years. All the patients were treated with intralaryngeal botulinum toxin under electromyographic control. Clinically relevant improvements were found after treatment on both the GRBAS(i) scale and the VHI-30 questionnaire. In the study of SD, we should always rule out an association with MS. From the point of view of otorhinolaryngology, the joint use of the GRBAS(i) scale and the VHI-30 questionnaire are useful, reliable and efficient methods for assessing progress and response to treatment. Laryngeal infiltration under electromyographic control with botulinum toxin is the therapeutic alternative that provides better results. The management of SD associated with MS does not differ from isolated SD. Copyright © 2018 Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello. Publicado por Elsevier España, S.L.U. All rights reserved.

Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia.

Science.gov (United States)

Dang, Mai T; Yokoi, Fumiaki; McNaught, Kevin St P; Jengelley, Toni-Ann; Jackson, Tehone; Li, Jianyong; Li, Yuqing

2005-12-01

A trinucleotide deletion of GAG in the DYT1 gene that encodes torsinA protein is implicated in the neurological movement disorder of Oppenheim's early-onset dystonia. The mutation removes a glutamic acid in the carboxy region of torsinA, a member of the Clp protease/heat shock protein family. The function of torsinA and the role of the mutation in causing dystonia are largely unknown. To gain insight into these unknowns, we made a gene-targeted mouse model of Dyt1 DeltaGAG to mimic the mutation found in DYT1 dystonic patients. The mutated heterozygous mice had deficient performance on the beam-walking test, a measure of fine motor coordination and balance. In addition, they exhibited hyperactivity in the open-field test. Mutant mice also showed a gait abnormality of increased overlap. Mice at 3 months of age did not display deficits in beam-walking and gait, while 6-month mutant mice did, indicating an age factor in phenotypic expression as well. While striatal dopamine and 4-dihydroxyphenylacetic acid (DOPAC) levels in Dyt1 DeltaGAG mice were similar to that of wild-type mice, a 27% decrease in 4-hydroxy, 3-methoxyphenacetic acid (homovanillic acid) was detected in mutant mice. Dyt1 DeltaGAG tissues also have ubiquitin- and torsinA-containing aggregates in neurons of the pontine nuclei. A sex difference was noticed in the mutant mice with female mutant mice exhibiting fewer alterations in behavioral, neurochemical, and cellular changes. Our results show that knocking in a Dyt1 DeltaGAG allele in mouse alters their motor behavior and recapitulates the production of protein aggregates that are seen in dystonic patients. Our data further support alterations in the dopaminergic system as a part of dystonia's neuropathology.

International Classification of Primary Care-2 coding of primary care data at the general out-patients' clinic of General Hospital, Lagos, Nigeria.

Science.gov (United States)

Olagundoye, Olawunmi Abimbola; van Boven, Kees; van Weel, Chris

2016-01-01

Primary care serves as an integral part of the health systems of nations especially the African continent. It is the portal of entry for nearly all patients into the health care system. Paucity of accurate data for health statistics remains a challenge in the most parts of Africa because of inadequate technical manpower and infrastructure. Inadequate quality of data systems contributes to inaccurate data. A simple-to-use classification system such as the International Classification of Primary Care (ICPC) may be a solution to this problem at the primary care level. To apply ICPC-2 for secondary coding of reasons for encounter (RfE), problems managed and processes of care in a Nigerian primary care setting. Furthermore, to analyze the value of selected presented symptoms as predictors of the most common diagnoses encountered in the study setting. Content analysis of randomly selected patients' paper records for data collection at the end of clinic sessions conducted by family physicians at the general out-patients' clinics. Contents of clinical consultations were secondarily coded with the ICPC-2 and recorded into excel spreadsheets with fields for sociodemographic data such as age, sex, occupation, religion, and ICPC elements of an encounter: RfE/complaints, diagnoses/problems, and interventions/processes of care. Four hundred and one encounters considered in this study yielded 915 RfEs, 546 diagnoses, and 1221 processes. This implies an average of 2.3 RfE, 1.4 diagnoses, and 3.0 processes per encounter. The top 10 RfE, diagnoses/common illnesses, and processes were determined. Through the determination of the probability of the occurrence of certain diseases beginning with a RfE/complaint, the top five diagnoses that resulted from each of the top five RfE were also obtained. The top five RfE were: headache, fever, pain general/multiple sites, visual disturbance other and abdominal pain/cramps general. The top five diagnoses were: Malaria, hypertension

General practice and primary health care in Denmark

DEFF Research Database (Denmark)

Møller Pedersen, Kjeld; Andersen, John Sahl; Søndergaard, Jens

2012-01-01

General practice is the corner stone of Danish primary health care. General practitioners (GPs) are similar to family physicians in the United States. On average, all Danes have 6.9 contacts per year with their GP (in-person, telephone, or E-mail consultation). General practice is characterized...... education. The contract is (re)negotiated every 2 years. General practice is embedded in a universal tax-funded health care system in which GP and hospital services are free at the point of use. The current system has evolved over the past century and has shown an ability to adapt flexibly to new challenges...... by 5 key components: (1) a list system, with an average of close to 1600 persons on the list of a typical GP; (2) the GP as gatekeeper and first-line provider in the sense that a referral from a GP is required for most office-based specialists and always for in- and outpatient hospital treatment; (3...

Patient safety in primary care: a survey of general practitioners in The Netherlands.

NARCIS (Netherlands)

Gaal, S.; Verstappen, W.H.J.M.; Wensing, M.J.P.

2010-01-01

BACKGROUND: Primary care encompasses many different clinical domains and patient groups, which means that patient safety in primary care may be equally broad. Previous research on safety in primary care has focused on medication safety and incident reporting. In this study, the views of general

Training doctors for primary care in China: Transformation of general practice education.

Science.gov (United States)

Li, Donald

2016-01-01

China is known for developing a cadre of "Barefoot Doctors" to address her rural healthcare needs in past. The tradition of barefoot doctors has inspired similar developments in several other countries across world. Recently China has embarked upon an ambitious new mission to create a primary care workforce consisting of trained general practitioners having international standard skillsets. This editorial provides an insight into the current status of policy deliberations with regards to training of primary care doctors and a new surge in general practice education in China.

Computer-Aided Design/Computer-Assisted Manufacture-Derived Needle Guide for Injection of Botulinum Toxin into the Lateral Pterygoid Muscle in Patients with Oromandibular Dystonia.

Science.gov (United States)

Yoshida, Kazuya

2018-01-01

To evaluate the effectiveness and safety of botulinum toxin administration into the inferior head of the lateral pterygoid muscle of patients with jaw opening dystonia by using a computer-aided design/computer-assisted manufacture (CAD/CAM)-derived needle guide. A total of 17 patients with jaw opening dystonia were enrolled. After the patient's computed tomography (CT) scan was imported and fused with a scan of a plaster cast model of the maxilla, the optimal needle insertion site over the lateral pterygoid muscle was determined using the NobelClinician software. A total of 13 patients were injected both with and without the guide, and 4 patients underwent guided injection alone. The therapeutic effects of botulinum toxin injection and its associated complications were statistically compared between the guided and unguided procedures using paired t test. Botulinum toxin therapy was performed 42 and 32 times with and without the guides, respectively. The needle was easily inserted without any complications in all procedures. There was a significant difference (P < .001) between the mean comprehensive improvements observed with (66.3%) and without (54.4%) the guides. The findings suggest that the use of needle guides during the injection of botulinum toxin into the inferior head of the lateral pterygoid muscle is very useful for aiding the accurate and safe administration of botulinum toxin therapy for jaw opening dystonia.

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.

Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

Science.gov (United States)

Roze, Emmanuel; Cochen, Valérie; Sangla, Sophie; Bienvenu, Thierry; Roubergue, Anne; Leu-Semenescu, Smaranda; Vidaihet, Marie

2007-02-15

Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Science.gov (United States)

Maas, Roeltje R.; Iwanicka‐Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al‐Owain, Mohammed A.; Al‐Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs‐Nagy, Reka; Krumina, Zita; Martin‐Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.

2017-01-01

Objective 3‐Methylglutaconic aciduria, dystonia–deafness, hepatopathy, encephalopathy, Leigh‐like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. Methods This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported. Results Sixty‐seven individuals (39 previously unreported) from 59 families were included (age range = 5 days–33.4 years, median age = 9 years). A total of 41 different SERAC1 variants were identified, including 20 that have not been reported before. With the exception of 2 families with a milder phenotype, all affected individuals showed a strikingly homogeneous phenotype and time course. Severe, reversible neonatal liver dysfunction and hypoglycemia were seen in >40% of all cases. Starting at a median age of 6 months, muscular hypotonia (91%) was seen, followed by progressive spasticity (82%, median onset = 15 months) and dystonia (82%, 18 months). The majority of affected individuals never learned to walk (68%). Seventy‐nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%). Magnetic resonance imaging features were accordingly homogenous, with bilateral basal ganglia involvement (98%); the characteristic “putaminal eye” was seen in 53%. The urinary marker 3‐methylglutaconic aciduria was present in virtually all patients (98%). Supportive treatment focused on spasticity and drooling, and was effective in the individuals treated; hearing aids or cochlear implants did not improve communication skills. Interpretation MEGDHEL syndrome is a progressive deafness–dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004–1015 PMID:29205472

A relationship between bruxism and orofacial-dystonia? A trigeminal electrophysiological approach in a case report of pineal cavernoma

OpenAIRE

Frisardi, Gianni; Iani, Cesare; Sau, Gianfranco; Frisardi, Flavio; Leornadis, Carlo; Lumbau, Aurea; Enrico, Paolo; Sirca, Donatella; Staderini, Enrico Maria; Chessa, Giacomo

2013-01-01

Background: In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. Methods: Electrophysiological studies included bilateral electrical transcrania...

Primary prevention of cardio-metabolic diseases in general practice: a Dutch survey of attitudes and working methods of general practitioners.

NARCIS (Netherlands)

Nielen, M.M.J.; Assendelft, W.J.J.; Drenthen, A.J.M.; Hombergh, P. van den; Dis, I. van; Schellevis, F.G.

2010-01-01

BACKGROUND: To study the attitudes and working methods of general practitioners (GPs) in primary prevention of cardiovascular diseases, diabetes mellitus and chronic kidney diseases. METHODS: A questionnaire with questions about attitude and working methods in the primary prevention of

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 no...

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

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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.

Normalizing biased spatial attention with parietal rTMS in a patient with focal hand dystonia

DEFF Research Database (Denmark)

Ricci, Raffaella; Salatino, Adriana; Siebner, Hartwig R

2014-01-01

We report the following case to highlight the possible relevance of biased spatial attention in focal hand dystonia (FHD). Deficient sensorimotor inhibition is a prominent pathophysiological feature of FHD [1,2]. Low-frequency repetitive Trascranial Magnetic Stimulation (rTMS) over contralateral...... premotor cortex (PMC) can reinforce cortical inhibition and improve motor performance and dystonic symptoms in some patients [3,4]. Here we report the case of a 41-year-old right-handed man (23 years of education) with severe task-dependent FHD, affecting the right hand index and middle fingers....

Efficacy and Safety of IncobotulinumtoxinA in Subjects Previously Treated with Botulinum Toxin versus Toxin-Naïve Subjects with Cervical Dystonia

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Hubert Fernandez

2013-05-01

Full Text Available Background: To determine whether botulinum toxin treatment history affected the outcomes of a study comparing the safety and efficacy of incobotulinumtoxinA with placebo in subjects with cervical dystonia (CD.Methods: This was a prospective, double‐blind, randomized, placebo‐controlled, multicenter trial in botulinum toxin‐treated or toxin‐naïve CD subjects. Subjects received a fixed dose of either 120 U or 240 U of incobotulinumtoxinA or placebo. The primary outcome measure was change from baseline to Week 4 in the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS total score. Treatment‐emergent adverse events (TEAEs were also evaluated. This report represents a subgroup analysis of botulinum toxin‐treated or toxin‐naïve subjects.Results: Participants (N = 233; 38.6% toxin‐naïve had a mean age of 52.8 years. IncobotulinumtoxinA significantly improved TWSTRS total scores from baseline to Week 4 in both dose groups versus placebo, and the improvement persisted through the end of the study (≤20 weeks. Both the previously toxin‐treated and toxin‐naïve subjects demonstrated significant improvements in TWSTRS total scores at Week 4 compared to baseline. The most frequent TEAEs in the incobotulinumtoxinA groups were dysphagia, neck pain, and muscular weakness, which were generally mild. TEAEs were more common in the 240 U group and toxin‐naïve subjects. Discussion: Overall, incobotulinumtoxinA was safe and effective in CD, regardless of toxin therapy history. A lower starting dose may be better tolerated among toxin‐naïve subjects without sacrificing efficacy.

Advancing general practice nursing in Australia: roles and responsibilities of primary healthcare organisations.

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Lane, Riki; Halcomb, Elizabeth; McKenna, Lisa; Zwar, Nicholas; Naccarella, Lucio; Davies, Gawaine Powell; Russell, Grant

2017-05-01

Objectives Given increased numbers and enhanced responsibilities of Australian general practice nurses, we aimed to delineate appropriate roles for primary health care organisations (PHCOs) to support this workforce. Methods A two-round online Delphi consensus process was undertaken between January and June 2012, informed by literature review and key informant interviews. Participants were purposively selected and included decision makers from government and professional organisations, educators, researchers and clinicians from five Australian states and territories Results Of 56 invited respondents, 35 (62%) and 31 (55%) responded to the first and second invitation respectively. Participants reached consensus on five key roles for PHCOs in optimising nursing in general practice: (1) matching workforce size and skills to population needs; (2) facilitating leadership opportunities; (3) providing education and educational access; (4) facilitating integration of general practice with other primary care services to support interdisciplinary care; and (5) promoting advanced nursing roles. National concerns, such as limited opportunities for postgraduate education and career progression, were deemed best addressed by national nursing organisations, universities and peak bodies. Conclusions Advancement of nursing in general practice requires system-level support from a range of organisations. PHCOs play a significant role in education and leadership development for nurses and linking national nursing organisations with general practices. What is known about the topic? The role of nurses in Australian general practice has grown in the last decade, yet they face limited career pathways and opportunities for career advancement. Some nations have forged interprofessional primary care teams that use nurses' skills to the full extent of their scope of practice. PHCOs have played important roles in the development of general practice nursing in Australia and internationally

General practitioners' views on leadership roles and challenges in primary health care: a qualitative study

OpenAIRE

Spehar, Ivan; Sjøvik, Hege; Karevold, Knut Ivar; Rosvold, Elin Olaug; Frich, Jan C

2017-01-01

Objective To explore general practitioners? (GPs) views on leadership roles and leadership challenges in general practice and primary health care. Design We conducted focus groups (FGs) with 17 GPs. Setting Norwegian primary health care. Subjects 17 GPs who attended a 5 d course on leadership in primary health care. Results Our study suggests that the GPs experience a need for more preparation and formal training for the leadership role, and that they experienced tensions between the clinical...

General practitioners: Between integration and co-location. The case of primary care centers in Tuscany, Italy.

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Barsanti, Sara; Bonciani, Manila

2018-01-01

Healthcare systems have followed several strategies aimed at integrating primary care services and professionals. Medical homes in the USA and Canada, and primary care centres across Europe have collocated general practitioners and other health and social professionals in the same building in order to boost coordination among services and the continuity of care for patients. However, in the literature, the impact of co-location on primary care has led to controversial results. This article analyses the possible benefits of the co-location of services in primary care focusing on the Italian model of primary care centres (Case della Salute) in terms of general practitioners' perception. We used the results of a web survey of general practitioners in Tuscany to compare the experiences and satisfaction of those general practitioners involved and not involved in a primary care centre, performed a MONAVA and ANOVA analysis. Our case study highlights the positive impact of co-location on the integration of professionals, especially with nurses and social workers, and on organizational integration, in terms of frequency of meeting to discuss about quality of care. Conversely, no significant differences were found in terms of either clinical or system integration. Furthermore, the collaboration with specialists is still weak. Considering the general practitioners' perspective in terms of experience and satisfaction towards primary care, co-location strategies is a necessary step in order to facilitate the collaboration among professionals and to prevent unintended consequences in terms of an even possible isolation of primary care as an involuntary 'disintegration of the integration'.

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

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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.

Acute Dystonia in a Child Receiving Metoclopramide: Case Report

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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.

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

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Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

2017-06-01

Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

Neuronal degeneration in autonomic nervous system of Dystonia musculorum mice

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Liu Kang-Jen

2011-01-01

Full Text Available Abstract Background Dystonia musculorum (dt is an autosomal recessive hereditary neuropathy with a characteristic uncoordinated movement and is caused by a defect in the bullous pemphigoid antigen 1 (BPAG1 gene. The neural isoform of BPAG1 is expressed in various neurons, including those in the central and peripheral nerve systems of mice. However, most previous studies on neuronal degeneration in BPAG1-deficient mice focused on peripheral sensory neurons and only limited investigation of the autonomic system has been conducted. Methods In this study, patterns of nerve innervation in cutaneous and iridial tissues were examined using general neuronal marker protein gene product 9.5 via immunohistochemistry. To perform quantitative analysis of the autonomic neuronal number, neurons within the lumbar sympathetic and parasympathetic ciliary ganglia were calculated. In addition, autonomic neurons were cultured from embryonic dt/dt mutants to elucidate degenerative patterns in vitro. Distribution patterns of neuronal intermediate filaments in cultured autonomic neurons were thoroughly studied under immunocytochemistry and conventional electron microscopy. Results Our immunohistochemistry results indicate that peripheral sensory nerves and autonomic innervation of sweat glands and irises dominated degeneration in dt/dt mice. Quantitative results confirmed that the number of neurons was significantly decreased in the lumbar sympathetic ganglia as well as in the parasympathetic ciliary ganglia of dt/dt mice compared with those of wild-type mice. We also observed that the neuronal intermediate filaments were aggregated abnormally in cultured autonomic neurons from dt/dt embryos. Conclusions These results suggest that a deficiency in the cytoskeletal linker BPAG1 is responsible for dominant sensory nerve degeneration and severe autonomic degeneration in dt/dt mice. Additionally, abnormally aggregated neuronal intermediate filaments may participate in

Striatal [[sup 11]C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography

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Leenders, K [Paul Scherrer Inst. (PSI), Villigen (Switzerland); Hartvig, P [Hospital Pharmacy, Univ. Hospital, Uppsala (Sweden); Forsgren, L; Holmgren, G; Almay, B [Dept. of Neurology, Umeaa Univ., Umeaa (Sweden); Eckernaes, S A [Dept. of Neurology, Univ. Hospital, Uppsala (Sweden); Lundqvist, H; Laangstroem, B [Uppsala Univ. PET-Center, Uppsala (Sweden)

1993-01-01

Specific binding of [[sup 11]C]-N-methyl-spiperone to striatal dopamine D2 receptors was assessed using positron emission tomography (PET) in 6 patients with adult-onset focal dystonia (predominantly spasmodic torticollis) and in 5 healthy subjects. No significant difference in average specific striatal tracer uptake between patients and healthy subjects was found. However, in the 5 patients showing lateralisation of clinical signs a trend to higher striatal tracer uptake in the contralateral hemisphere was observed. (authors).

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

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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

General Template for the FMEA Applications in Primary Food Processing.

Science.gov (United States)

Özilgen, Sibel; Özilgen, Mustafa

Data on the hazards involved in the primary steps of processing cereals, fruit and vegetables, milk and milk products, meat and meat products, and fats and oils are compiled with a wide-ranging literature survey. After determining the common factors from these data, a general FMEA template is offered, and its use is explained with a case study on pasteurized milk production.

General practitioners’ views on leadership roles and challenges in primary health care: a qualitative study

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Spehar, Ivan; Sjøvik, Hege; Karevold, Knut Ivar; Rosvold, Elin Olaug; Frich, Jan C.

2017-01-01

Objective To explore general practitioners’ (GPs) views on leadership roles and leadership challenges in general practice and primary health care. Design We conducted focus groups (FGs) with 17 GPs. Setting Norwegian primary health care. Subjects 17 GPs who attended a 5 d course on leadership in primary health care. Results Our study suggests that the GPs experience a need for more preparation and formal training for the leadership role, and that they experienced tensions between the clinical and leadership role. GPs recognized the need to take on leadership roles in primary care, but their lack of leadership training and credentials, and the way in which their practices were organized and financed were barriers towards their involvement. Conclusions GPs experience tensions between the clinical and leadership role and note a lack of leadership training and awareness. There is a need for a more structured educational and career path for GPs, in which doctors are offered training and preparation in advance. Key points Little is known about doctors’ experiences and views about leadership in general practice and primary health care. Our study suggests that: There is a lack of preparation and formal training for the leadership role. GPs experience tensions between the clinical and leadership role. GPs recognize leadership challenges at a system level and that doctors should take on leadership roles in primary health care. PMID:28277051

General practitioners' views on leadership roles and challenges in primary health care: a qualitative study.

Science.gov (United States)

Spehar, Ivan; Sjøvik, Hege; Karevold, Knut Ivar; Rosvold, Elin Olaug; Frich, Jan C

2017-03-01

To explore general practitioners' (GPs) views on leadership roles and leadership challenges in general practice and primary health care. We conducted focus groups (FGs) with 17 GPs. Norwegian primary health care. 17 GPs who attended a 5 d course on leadership in primary health care. Our study suggests that the GPs experience a need for more preparation and formal training for the leadership role, and that they experienced tensions between the clinical and leadership role. GPs recognized the need to take on leadership roles in primary care, but their lack of leadership training and credentials, and the way in which their practices were organized and financed were barriers towards their involvement. GPs experience tensions between the clinical and leadership role and note a lack of leadership training and awareness. There is a need for a more structured educational and career path for GPs, in which doctors are offered training and preparation in advance. KEY POINTS Little is known about doctors' experiences and views about leadership in general practice and primary health care. Our study suggests that: There is a lack of preparation and formal training for the leadership role. GPs experience tensions between the clinical and leadership role. GPs recognize leadership challenges at a system level and that doctors should take on leadership roles in primary health care.

Use of Vagus Nerve Stimulator on Children With Primary Generalized Epilepsy.

Science.gov (United States)

Welch, William P; Sitwat, Bilal; Sogawa, Yoshimi

2018-06-01

To describe the response to vagus nerve stimulator (VNS) in otherwise neurotypical children with medically intractable primary generalized epilepsy. Retrospective chart review of patients who underwent vagus nerve stimulator surgery between January 2011 and December 2015. Eleven patients were identified. Median follow-up duration was 2.5 years (1.2-8.4 years). Prior to vagus nerve stimulator surgery, all patients had at least 1 seizure per week, and 7/11 (64%) had daily seizures. At 1-year follow-up after vagus nerve stimulator, 7/11 (64%) reported improved seizure frequency and 6/11 (55%) reported fewer than 1 seizure per month. Three patients (27%) reported complications related to vagus nerve stimulator surgery, and no patients required device removal. In children with medically intractable primary generalized epilepsy, vagus nerve stimulator is well tolerated and appears to lead to improvement in seizure frequency. Improvement was not attributable to epilepsy classification, age at vagus nerve stimulator implantation, output current, duty cycle, or follow-up duration.

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

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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.

Accounting for graduate medical education production of primary care physicians and general surgeons: timing of measurement matters.

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Petterson, Stephen; Burke, Matthew; Phillips, Robert; Teevan, Bridget

2011-05-01

Legislation proposed in 2009 to expand GME set institutional primary care and general surgery production eligibility thresholds at 25% at entry into training. The authors measured institutions' production of primary care physicians and general surgeons on completion of first residency versus two to four years after graduation to inform debate and explore residency expansion and physician workforce implications. Production of primary care physicians and general surgeons was assessed by retrospective analysis of the 2009 American Medical Association Masterfile, which includes physicians' training institution, residency specialty, and year of completion for up to six training experiences. The authors measured production rates for each institution based on physicians completing their first residency during 2005-2007 in family or internal medicine, pediatrics, or general surgery. They then reassessed rates to account for those who completed additional training. They compared these rates with proposed expansion eligibility thresholds and current workforce needs. Of 116,004 physicians completing their first residency, 54,245 (46.8%) were in primary care and general surgery. Of 683 training institutions, 586 met the 25% threshold for expansion eligibility. At two to four years out, only 29,963 physicians (25.8%) remained in primary care or general surgery, and 135 institutions lost eligibility. A 35% threshold eliminated 314 institutions collectively training 93,774 residents (80.8%). Residency expansion thresholds that do not account for production at least two to four years after completion of first residency overestimate eligibility. The overall primary care production rate from GME will not sustain the current physician workforce composition. Copyright © by the Association of American medical Colleges.

Current status of cannabis treatment of multiple sclerosis with an illustrative case presentation of a patient with MS, complex vocal tics, paroxysmal dystonia, and marijuana dependence treated with dronabinol.

Science.gov (United States)

Deutsch, Stephen I; Rosse, Richard B; Connor, Julie M; Burket, Jessica A; Murphy, Mary E; Fox, Fiona J

2008-05-01

Pain, spasticity, tremor, spasms, poor sleep quality, and bladder and bowel dysfunction, among other symptoms, contribute significantly to the disability and impaired quality of life of many patients with multiple sclerosis (MS). Motor symptoms referable to the basal ganglia, especially paroxysmal dystonia, occur rarely and contribute to the experience of distress. A substantial percentage of patients with MS report subjective benefit from what is often illicit abuse of extracts of the Cannabis sativa plant; the main cannabinoids include delta-9-tetrahydrocannabinol (delta9-THC) and cannabidiol. Clinical trials of cannabis plant extracts and synthetic delta9-THC provide support for therapeutic benefit on at least some patient self-report measures. An illustrative case is presented of a 52-year-old woman with MS, paroxysmal dystonia, complex vocal tics, and marijuana dependence. The patient was started on an empirical trial of dronabinol, an encapsulated form of synthetic delta9-THC that is usually prescribed as an adjunctive medication for patients undergoing cancer chemotherapy. The patient reported a dramatic reduction of craving and illicit use; she did not experience the "high" on the prescribed medication. She also reported an improvement in the quality of her sleep with diminished awakenings during the night, decreased vocalizations, and the tension associated with their emission, decreased anxiety and a decreased frequency of paroxysmal dystonia.

[Acute Dystonia due to Aripiprazole Use in Two Children with Autism Spectrum Disorder in the First Five Years of Life].

Science.gov (United States)

Küçükköse, Mustafa; Kabukçu Başay, Bürge

2017-01-01

Autism spectrum disorders (ASD) are neuropsychiatric disorders characterized by impairment in social interactions, in verbal and non-verbal communication, and restricted and stereotyped patterns of interest and behavior within the first 3 years of life. Pharmacologic interventions may be needed for the treatment of temper tantrums, aggression, hyperactivity, and stereotypes in children with ASD. The approval of aripiprazole by the United States Food and Drug Administration (USFDA) for the treatment of temper tantrums in children and adolescents with ASD has gained increased interest for the use in these patients. Aripiprazole is a partial agonist for the dopamine D2, serotonin 5-HT1A receptors, and an antagonist for 5HT2A receptors. Because aripiprazole is a partial agonist, it has been is speculated that aripiprazole has a protective effect for extrapyramidal side effects, movement disorders, and metabolic problems. But the increased use in children and adolescents is associated with an increase in the number of case reports related with such problems. Nevertheless, our review of the literature uncovered limited data regarding the association between acute dystonia and aripiprazole use in ASD children under five years of age is. In this paper, we present two cases of autistic spectrum disorder children with ages under 5 years that developed acute dystonia taking aripiprazole.

TRANSPORT OF PATIENTS FOR PRIMARY PTCA FROM GENERAL HOSPITAL NOVO MESTO TO LJUBLJANA IN 2002

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Renata Okrajšek

2004-12-01

Full Text Available Background. The treatment of acute coronary syndrome (ACS with ST-segment elevation with primary percutaneous transluminal coronary angioplasty (PTCA is the best way to treat these patients. Primary PTCA is also practicable with patients who are admitted into institution without catheter laboratory. The transport of patients into the tertiary institution is safe, but it is important to keep the time of ischemia as short as possible and to reach the time interval of door-balloon as recommended by the guidelines. The ACS patients with ST-segment elevation that were directed into General Hospital Novo mesto after examination at the internistic emergency department have been redirected to KC Ljubljana for realization of PTCA since October 2001.Methods. A prospective analysis of patients with ACS with STsegment elevation, who had been transferred from General Hospital Novo mesto to KC Ljubljana in the period from January 1, 2002 to December 31, 2002 to have a primary PTCA, was performed. The analysis comprised the following: the time interval of handling the patients at Internistic department of General Hospital Novo mesto, the time of transport of patients to Ljubljana and total time interval from the arrival of patients to General Hospital Novo mesto to the first inflation of balloon in Ljubljana. We monitored the complications that occurred during the treatment of the patients.Results. In the above mentioned period 29 patients (24 males and 5 females were transported from the General Hospital Novo mesto to the KC Ljubljana to have a primary PTCA performed. The total time interval measured between the patients’ arrival to General Hospital Novo mesto to the first inflation of balloon in Ljubljana in the year 2002 was 145 minutes, which is 17 minutes better than in the previous period. The time interval recommended by the guidelines was achieved with four patients.Conclusions. By recognizing the problems that had encountered with directing the

Impaired limb proprioception in adults with spasmodic dysphonia

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Konczak, Jürgen; Aman, Joshua E.; Chen, Yu-Wen; Li, Kuan-yi; Watson, Peter J.

2015-01-01

Objectives Focal dystonia of the head, neck are associated with a loss of kinaesthetic acuity at muscles distant from the dystonic sites. That is, while the motor deficits in focal dystonia are confined, the associated somatosensory deficits are generalized. This is the first systematic study to examine, if patients diagnosed with spasmodic dystonia (SD) show somatosensory impairments similar in scope to other forms of focal dystonia. Methods Proprioceptive acuity (ability to discriminate between two stimuli) for forearm position and motion sense was assessed in 14 spasmodic dystonia subjects and 28 age-matched controls using a passive motion apparatus. Psychophysical thresholds, uncertainty area and a proprioceptive acuity index were computed based on the subjects’ verbal responses. Results The main findings are: First, the SD group showed significantly elevated thresholds and uncertainty areas for forearm position sense when compared to the control group. Second, 9 out of 14 dystonia subjects (64%) exhibited an acuity index for position sense above the control group maximum. Three SD subjects had a motion sense acuity index above the control group maximum. Conclusion The results indicate that impaired limb proprioception is a common feature of SD. Like other forms of focal dystonia, spasmodic dystonia does affect the somatosensation of non-dystonic muscle systems. That is, SD is associated with a generalized somatosensory deficit. PMID:25737471

Impaired Limb Proprioception in Adults With Spasmodic Dysphonia.

Science.gov (United States)

Konczak, Jürgen; Aman, Joshua E; Chen, Yu-Wen; Li, Kuan-yi; Watson, Peter J

2015-11-01

Focal dystonia of the head and neck are associated with a loss of kinesthetic acuity at muscles distant from the dystonic sites. That is, while the motor deficits in focal dystonia are confined, the associated somatosensory deficits are generalized. This is the first systematic study to examine, if patients diagnosed with spasmodic dystonia (SD) show somatosensory impairments similar in scope to other forms of focal dystonia. Proprioceptive acuity (ability to discriminate between two stimuli) for forearm position and motion sense was assessed in 14 spasmodic dystonia subjects and 28 age-matched controls using a passive motion apparatus. Psychophysical thresholds, uncertainty area (UA), and a proprioceptive acuity index (AI) were computed based on the subjects' verbal responses. The main findings are as follows: first, the SD group showed significantly elevated thresholds and UAs for forearm position sense compared with the control group. Second, 9 of 14 dystonia subjects (64%) exhibited an AI for position sense above the control group maximum. Three SD subjects had a motion sense AI above the control group maximum. The results indicate that impaired limb proprioception is a common feature of SD. Like other forms of focal dystonia, spasmodic dystonia does affect the somatosensation of nondystonic muscle systems. That is, SD is associated with a generalized somatosensory deficit. Copyright © 2015 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

Spasmodic dysphonia may respond to bilateral thalamic deep brain ...

African Journals Online (AJOL)

Background Spasmodic dysphonia is a primary focal dystonia manifested by loss of control of the vocal muscles during speech secondary to laryngeal muscle spasms. The pathophysiology is not well understood. Deep brain stimulation surgery (DBS) for other focal dystonias has been well reported. Methods We report the ...

AbobotulinumtoxinA in the management of cervical dystonia in the United Kingdom: a budget impact analysis

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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

Socioeconomic gradients in general and oral health of primary school children in Shiraz, Iran.

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Golkari, Ali; Sabokseir, Aira; Sheiham, Aubrey; Watt, Richard G

2016-01-01

Health status is largely determined by socio-economic status. The general health of individuals at higher social hierarchy is better than people in lower levels. Likewise, people with higher socio-economic status have better oral health than lower socio-economic groups. There has not been much work regarding the influence of socio-economic status on the health conditions of children in developing countries, particularly in Iran. The aim of this study was to compare the oral and general health conditions of primary school children of three different socio-economic areas in the city of Shiraz, Iran. This cross-sectional study was conducted on 335, 8- to 11-year-old primary schoolchildren in Shiraz. The children were selected by a three-stage cluster sampling method from three socio-economically different areas. Tools and methods used by the United Kingdom's Medical Research Council were used to obtain anthropometric variables as indicators of general health. The Decay, Missing, Filled Teeth (DMFT) Index for permanent teeth, dmft Index for primary teeth, the Modified Developmental Defects of Enamel (DDE) Index, the Gingival Index (GI) and the Debris Index-Simplified (DI-S) were used for oral health assessment.  Height (Poral health status of the primary schoolchildren of Shiraz. The influence of socio-economic status on health condition means children have different life chances based on their socio-economic conditions. These findings emphasize the significance of interventions for tackling socio-economic inequalities in order to improve the health status of children in lower socio-economic areas.

Dopa-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report

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José Luiz Dias Gherpelli

1995-06-01

Full Text Available Progressive dystonia with diurnal fluctuations sensitive to levodopa, also known as Segawa's disease, is a rare form of autosomal dominant extrapyramidal disease in the pediatric age group. The dystonic and Parkinson-like symptoms are the main clinical features of the disease and, characteristically but not in all cases, show a diurnal variation. They are absent or present to a lesser extent in the morning, worsening during the day. Treatment with small doses of levodopa results in remission or marked improvement of the symptomatology. We present the case of a 11 years old female patient that developed a dystonic posture in her feet that led her to a tip-toe walking pattern, since the age of 2. Diurnal fluctuations of the symptomatology were noticed by her mother. At 7 years of age she developed a left deviation of the head and an abnormal flexor posture of the left arm. In the next years the symptoms progressed and the fluctuations became less evident. At the age of 10, they were present soon after she woke up in the morning. The neurological examination disclosed a dystonic posturing of the head and left arm, a generalized rigidity of the extremities and a palpebral tremor. Laboratory examinations, including copper and ceruloplasmin, and neuro-imaging studies were negative. She was started on levodopa 150 mg/day with prompt disappearance of the symptomatology. After one-year follow-up she is symptom-free with only 100 mg/day of levodopa. No adverse effect was observed so far.

Abnormal activation of the primary somatosensory cortex in spasmodic dysphonia: an fMRI study.

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Simonyan, Kristina; Ludlow, Christy L

2010-11-01

Spasmodic dysphonia (SD) is a task-specific focal dystonia of unknown pathophysiology, characterized by involuntary spasms in the laryngeal muscles during speaking. Our aim was to identify symptom-specific functional brain activation abnormalities in adductor spasmodic dysphonia (ADSD) and abductor spasmodic dysphonia (ABSD). Both SD groups showed increased activation extent in the primary sensorimotor cortex, insula, and superior temporal gyrus during symptomatic and asymptomatic tasks and decreased activation extent in the basal ganglia, thalamus, and cerebellum during asymptomatic tasks. Increased activation intensity in SD patients was found only in the primary somatosensory cortex during symptomatic voice production, which showed a tendency for correlation with ADSD symptoms. Both SD groups had lower correlation of activation intensities between the primary motor and sensory cortices and additional correlations between the basal ganglia, thalamus, and cerebellum during symptomatic and asymptomatic tasks. Compared with ADSD patients, ABSD patients had larger activation extent in the primary sensorimotor cortex and ventral thalamus during symptomatic task and in the inferior temporal cortex and cerebellum during symptomatic and asymptomatic voice production. The primary somatosensory cortex shows consistent abnormalities in activation extent, intensity, correlation with other brain regions, and symptom severity in SD patients and, therefore, may be involved in the pathophysiology of SD.

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.

Primary Biliary Cirrhosis Is a Generalized Autoimmune Epithelitis

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Jun Gao

2015-03-01

Full Text Available Primary biliary cirrhosis (PBC is a chronic progressive autoimmune cholestatic liver disease characterized by highly specific antimitochondrial antibodies (AMAs and the specific immune-mediated injury of small intrahepatic bile ducts. Unique apoptotic feature of biliary epithelial cells (BECs may contribute to apotope presentation to the immune system, causing unique tissue damage in PBC. Perpetuation of inflammation may result in senescence of BECs, contributing to irreversible loss of bile duct. In addition to the classic liver manifestations, focal inflammation and tissue damage are also seen in salivary glands and urinary tract in a significant proportion of PBC patients. These findings provide potent support to the idea that molecular mimicry may be involved in the breakdown of autoimmune tolerance and mucosal immunity may lead to a systematic epithelitis in PBC patients. Thus, PBC is considered a generalized epithelitis in clinical practice.

General practitioners' and district nurses' conceptions of the encounter with obese patients in primary health care

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Rasmussen Finn

2011-02-01

Full Text Available Abstract Background Primary health care specialists have a key role in the management of obesity. Through understanding how they conceive the encounter with patients with obesity, treatment may be improved. The aim of this study was thus to explore general practitioners' and district nurses' conceptions of encountering patients with obesity in primary health care. Method Data were collected through semi-structured interviews, and analysed using a phenomenographic approach. The participants were 10 general practitioners (6 women, 4 men and 10 district nurses (7 women, 3 men from 19 primary health care centres within a well-defined area of Sweden. Results Five descriptive categories were identified: Adequate primary health care, Promoting lifestyle change, Need for competency, Adherence to new habits and Understanding patient attitudes. All participants, independent of gender and profession, were represented in the descriptive categories. Some profession and gender differences were, however, found in the underlying conceptions. The general staff view was that obesity had to be prioritised. However, there was also the contradictory view that obesity is not a disease and therefore not the responsibility of primary health care. Despite this, staff conceived it as important that patients were met with respect and that individual solutions were provided which could be adhered to step-by-step by the patient. Patient attitudes, such as motivation to change, evasive behaviour, too much trust in care and lack of self-confidence, were, however, conceived as major barriers to a fruitful encounter. Conclusions Findings from this study indicate that there is a need for development and organisation of weight management in primary health care. Raising awareness of staff's negative views of patient attitudes is important since it is likely that it affects the patient-staff relationship and staff's treatment efforts. More research is also needed on gender and

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

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Leshinsky-Silver, Esther; Shuvalov, Ruslan; Inbar, Shani; Cohen, Sarit; Lev, Dorit; Lerman-Sagie, Tally

2011-04-01

An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.

A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva

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Rosana H. Scola

2007-12-01

Full Text Available Dopa-responsive dystonia (DRD is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1 deficiency or autosomal recessive tyrosine hydroxylase deficiency. We report the case of a 10-years-old girl with progressive generalized dystonia and gait disorder who presented dramatic response to levodopa. The phenylalanine to tyrosine ratio was significantly higher after phenylalanine loading test. This condition had two different heterozygous mutations in the GCH1 gene: the previously reported P23L mutation and a new Q182E mutation. The characteristics of the DRD and the molecular genetic findings are discussed.Distonia dopa-responsiva (DRD, classificada como DYT5, é um erro inato do metabolismo que pode ser causado por dois diferentes tipos de defeito bioquímico: deficiência de GTP ciclo-hidrolase 1 (GCH1 (autossômica dominante ou de tirosina hidroxilase (autossômica recessiva. Descrevemos o caso de menina de 10 anos com distonia generalizada progressiva e alteração da marcha com importante melhora após uso de levodopa. A relação fenilalanina/tirosina estava aumentada após teste de sobrecarga com fenilalanina. O estudo molecular mostrou que o paciente apresenta uma combinação hererozigótica de mutação no gene GCH1: a já conhecida mutação P23L e uma nova mutação Q182E. Discutem-se as características da DRD e as alterações genéticas possíveis.

Psychological and social problems in primary care patients - general practitioners' assessment and classification.

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Rosendal, Marianne; Vedsted, Peter; Christensen, Kaj Sparle; Moth, Grete

2013-03-01

To estimate the frequency of psychological and social classification codes employed by general practitioners (GPs) and to explore the extent to which GPs ascribed health problems to biomedical, psychological, or social factors. A cross-sectional survey based on questionnaire data from GPs. Setting. Danish primary care. 387 GPs and their face-to-face contacts with 5543 patients. GPs registered consecutive patients on registration forms including reason for encounter, diagnostic classification of main problem, and a GP assessment of biomedical, psychological, and social factors' influence on the contact. The GP-stated reasons for encounter largely overlapped with their classification of the managed problem. Using the International Classification of Primary Care (ICPC-2-R), GPs classified 600 (11%) patients with psychological problems and 30 (0.5%) with social problems. Both codes for problems/complaints and specific disorders were used as the GP's diagnostic classification of the main problem. Two problems (depression and acute stress reaction/adjustment disorder) accounted for 51% of all psychological classifications made. GPs generally emphasized biomedical aspects of the contacts. Psychological aspects were given greater importance in follow-up consultations than in first-episode consultations, whereas social factors were rarely seen as essential to the consultation. Psychological problems are frequently seen and managed in primary care and most are classified within a few diagnostic categories. Social matters are rarely considered or classified.

Shared care between specialised psychiatric services and primary care: The experiences and expectations of General Practitioners in Ireland.

LENUS (Irish Health Repository)

Agyapong, Vincent Israel Opoku

2012-04-17

Objective. The study aims to explore the views of General Practitioners in Ireland on shared care between specialised psychiatric services and primary care. Method. A self-administered questionnaire was designed and posted to 400 randomly selected General Practitioners working in Ireland. Results. Of the respondents, 189 (94%) reported that they would support a general policy on shared care between primary care and specialised psychiatric services for patients who are stable on their treatment. However, 124 (61.4%) reported that they foresaw difficulties for patients in implementing such a policy including: a concern that primary care is not adequately resourced with allied health professionals to support provision of psychiatric care (113, 53.2%); a concern this would result in increased financial burden on some patients (89, 48.8%); a lack of adequate cooperation between primary care and specialised mental health services (84, 41.8%); a concern that some patients may lack confidence in GP care (55, 27.4%); and that primary care providers are not adequately trained to provide psychiatric care (29, 14.4% ). Conclusion. The majority of GPs in Ireland would support a policy of shared care of psychiatric patients; however they raise significant concerns regarding practical implications of such a policy in Ireland.

Brief cognitive behavioral therapy compared to general practitioners care for depression in primary care: a randomized trial

Science.gov (United States)

2010-01-01

Background Depressive disorders are highly prevalent in primary care (PC) and are associated with considerable functional impairment and increased health care use. Research has shown that many patients prefer psychological treatments to pharmacotherapy, however, it remains unclear which treatment is most optimal for depressive patients in primary care. Methods/Design A randomized, multi-centre trial involving two intervention groups: one receiving brief cognitive behavioral therapy and the other receiving general practitioner care. General practitioners from 109 General Practices in Nijmegen and Amsterdam (The Netherlands) will be asked to include patients aged between 18-70 years presenting with depressive symptomatology, who do not receive an active treatment for their depressive complaints. Patients will be telephonically assessed with the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I) to ascertain study eligibility. Eligible patients will be randomized to one of two treatment conditions: either 8 sessions of cognitive behavioral therapy by a first line psychologist or general practitioner's care according to The Dutch College of General Practitioners Practice Guideline (NHG- standaard). Baseline and follow-up assessments are scheduled at 0, 6, 12 and 52 weeks following the start of the intervention. Primary outcome will be measured with the Hamilton Depression Rating Scale-17 (HDRS-17) and the Patient Health Questionnaire-9 (PHQ-9). Outcomes will be analyzed on an intention to treat basis. Trial Registration ISRCTN65811640 PMID:20939917

Teamwork in primary palliative care: general practitioners' and specialised oncology nurses' complementary competencies.

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Johansen, May-Lill; Ervik, Bente

2018-03-07

Generalists such as general practitioners and district nurses have been the main actors in community palliative care in Norway. Specialised oncology nurses with postgraduate palliative training are increasingly becoming involved. There is little research on their contribution. This study explores how general practitioners (GPs) and oncology nurses (ONs) experience their collaboration in primary palliative care. A qualitative focus group and interview study in rural Northern Norway, involving 52 health professionals. Five uni-professional focus group discussions were followed by five interprofessional discussions and six individual interviews. Transcripts were analysed thematically. The ideal cooperation between GPs and ONs was as a "meeting of experts" with complementary competencies. GPs drew on their generalist backgrounds, including their often long-term relationship with and knowledge of the patient. The ONs contributed longitudinal clinical observations and used their specialised knowledge to make treatment suggestions. While ONs were often experienced and many had developed a form of pattern recognition, they needed GPs' competencies for complex clinical judgements. However, ONs sometimes lacked timely advice from GPs, and could feel left alone with sick patients. To avoid this, some ONs bypassed GPs and contacted palliative specialists directly. While traditional professional hierarchies were not a barrier, we found that organization, funding and remuneration were significant barriers to cooperation. GPs often did not have time to meet with ONs to discuss shared patients. We also found that ONs and GPs had different strategies for learning. While ONs belonged to a networking nursing collective aiming for continuous quality improvement, GPs learned mostly from their individual experience of caring for patients. The complementary competences and autonomous roles of a specialised nurse and a general practitioner represented a good match for primary palliative

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

Vegetative-vascular dystonia: diagnosis and treatment with the inclusion of modern methods of physiotherapy

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N. I. Samosyuk

2015-07-01

  В статье рассматриваются вопросы нейроциркуляторной дистонии и вегетативно-сосудистой дистонии, нозологическая принадлежность которых широко дискутируется в литературе. Авторы показывают в данной работе формирование клинического представления от «ВСД» и «НЦД», приводят классификацию, особенности их клинического течения и методики современной физиотерапии. Статья может представлять интерес широкому кругу врачей: неврологам, терапевтам, семейным врачам, врачам общей практики, студентам старших курсов медицинских ВУЗов и др.   Ключевые слова: вегетативно-сосудистая дистония, вегето-сосудистая дистония, диагностика, лечение, физиотерапия.   Abstract   The article discusses using neuro-circulator dystonia and vegetative-vascular dystonia, nosologic belonging which is widely discussed in the literature. In this paper, the authors show the formation of the clinical presentation of "VCD" and "NCD", lead classification, peculiarities of their clinical evolution and modern methods of physiotherapy. The article may be of interest to a wide range of doctors: neurologists, general practitioners, family doctors, physicians, undergraduate students of medical universities, etc.   Key words: vegetative-vascular dystonia, vegeto-vascular dystonia, diagnosis, treatment, physiotherapy.     Содержание   Вступление Соматоформные расстройства Лечение расстройств, �

Difícil manejo do paciente com distonia segmentar respiratória The difficult management of patients with respiratory segmental dystonia

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Noemi Grigoletto De Biase

2007-04-01

Full Text Available A forma respiratória da distonia laríngea é rara, de difícil diagnóstico e provoca restrição respiratória de graus variados. O objetivo deste trabalho é apresentar um caso de distonia respiratória envolvendo laringe e faringe e sua evolução em relação à intensidade dos espasmos e seu controle. ESTUDO DE CASO: Paciente de 24 anos, sexo masculino, acompanhado por 5 anos: diagnóstico por nasofibroscopia e eletromiografia e tratamento com toxina botulínica conforme necessidade de controle dos sintomas. CONCLUSÃO: O difícil manejo se deve ao fato do desconhecimento da etiologia e a pouca opção de tratamento, bem como do envolvimento da função respiratória.Respiratory dystonia is a rare and difficult to diagnose disorder, that causes breathing restriction of various degrees. The objective of the study is to report the case of a patient with respiratory dystonia involving the larynx and the pharynx and its evolution concerning spasms intensity and control. CASE REPORT: A 24 year-old-man has been followed for 5 years. The diagnosis was made by means of nasofibroscopy and electromyography. Treatment was carried out with laryngeal and pharyngeal Botulin toxin injections, as it became necessary for symptoms control. CONCLUSION: The difficult management can be secondary to the lack of knowledge on the etiology and physiopathology of the impairment, and because of the limitations in the treatment of associated respiratory symptoms.

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)

Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses

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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.

Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out

OpenAIRE

Yokoi, Fumiaki; Dang, Mai Tu; Li, Yuqing

2012-01-01

Early-onset generalized torsion dystonia (dystonia 1) is an inherited movement disorder caused by mutations in DYT1 (TOR1A), which codes for torsinA. Most patients have a 3-base pair deletion (ΔGAG) in one allele of DYT1, corresponding to a loss of a glutamic acid residue (ΔE) in the C-terminal region of the protein. Functional alterations in basal ganglia circuits and the cerebellum have been reported in dystonia. Pharmacological manipulations or mutations in genes that result in functional ...

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce

OpenAIRE

Yokoi, Fumiaki; Yang, Guang; Li, JinDong; DeAndrade, Mark P.; Zhou, Tong; Li, Yuqing

2010-01-01

DYT1 early-onset generalized torsion dystonia is an inherited movement disorder caused by mutations in DYT1 coding for torsinA with ∼30% penetrance. Most of the DYT1 dystonia patients exhibit symptoms during childhood and adolescence. On the other hand, DYT1 mutation carriers without symptoms during these periods mostly do not exhibit symptoms later in their life. Little is known about what controls the timing of the onset, a critical issue for DYT1 mutation carriers. DYT11 myoclonus-dystonia...

Primary School Teachers' Interviews Regarding Pedagogical Content Knowledge (PCK) and General Pedagogical Knowledge (GPK)

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Sothayapetch, Pavinee; Lavonen, Jari; Juuti, Kalle

2013-01-01

Pedagogical Content Knowledge (PCK) and General Pedagogical Knowledge (GPK) are fundamental types of knowledge for a teacher that he or she must use in order to plan, teach in the classroom, and assess students' learning outcomes. This paper investigates experienced primary school teachers' PCK and GPK while teaching science in Finland and in…

Switch Based Opportunistic Spectrum Access for General Primary User Traffic Model

KAUST Repository

Gaaloul, Fakhreddine

2012-06-18

This letter studies cognitive radio transceiver that can opportunistically use the available channels of primary user (PU). Specifically, we investigate and compare two different opportunistic channel access schemes. The first scheme applies when the secondary user (SU) has access to only one channel. The second scheme, based on channel switching mechanism, applies when the SU has access to multiple channels but can at a given time monitor and access only one channel. For these access schemes, we derive the exact analytical results for the novel performance metrics of average access time and average waiting time under general PU traffic models.

Switch Based Opportunistic Spectrum Access for General Primary User Traffic Model

KAUST Repository

Gaaloul, Fakhreddine; Alouini, Mohamed-Slim; Radaydeh, Redha M.; Yang, Hong-Chuan

2012-01-01

This letter studies cognitive radio transceiver that can opportunistically use the available channels of primary user (PU). Specifically, we investigate and compare two different opportunistic channel access schemes. The first scheme applies when the secondary user (SU) has access to only one channel. The second scheme, based on channel switching mechanism, applies when the SU has access to multiple channels but can at a given time monitor and access only one channel. For these access schemes, we derive the exact analytical results for the novel performance metrics of average access time and average waiting time under general PU traffic models.

Eating dysfunction associated with oromandibular dystonia: clinical characteristics and treatment considerations

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Singer Carlos

2006-12-01

Full Text Available Abstract Background In oromandibular dystonia (OMD abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss. We present here the clinical characteristics and treatment variables of a series of patients that developed an OMD-associated eating dysfunction. Methods We present a series of patients diagnosed and followed-up at the Movement Disorders Clinic of the Department of Neurology of University of Miami, Miller School of Medicine over a 10-year period. Patients were treated with botulinum toxin injections according to standard methods. Results Five out of 32 (15.6% OMD patients experienced symptoms of eating dysfunction associated with OMD. Significant weight loss was reported in 3/5 patients (ranged for 13–15 lbs. Two patients regained the lost weight after treatment and one was lost to follow-up. Tetrabenazine in combination with other antidystonic medication and/or botulinum toxin injections provided substantial benefit to the patients with dysphagia caused by OMD. Conclusion Dystonic eating dysfunction may occasionally complicate OMD leading to weight loss. Its adequate characterization at the time of history taking and clinical examination should be part of outcome measurements of the anti-dystonic treatment in clinical practice.

TUBB2B Mutation in an Adult Patient with Myoclonus-Dystonia

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Joshua T. Geiger

2017-08-01

Full Text Available Background: Tubulin mutations are a cause of neuronal migrational disorders referred to as tubulinopathies. Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. Current understanding of the clinical spectrum of tubulinopathies is predominantly based on research in fetal tissue and early-childhood cases. Methods: Testing of candidate genes followed by whole-exome sequencing was performed in an adult woman with a neurodevelopmental, hyperkinetic movement disorder, to identify the underlying genetic cause. Bioinformatic modeling and a systematic review of literature was conducted to investigate genotype-phenotype correlations. Results: The patient was found to carry a heterozygous, de novo c.722G>A, p.R241H mutation in a conserved domain of TUBB2B, encoding the β-isoform of tubulin. In silico analysis indicated that this mutation was pathogenic. On neuroimaging, the patient had asymmetric pachygyria and dysmorphic basal ganglia. Her neurological examination demonstrated mild cognitive impairment, myoclonus-dystonia, and skeletal anomalies. Conclusions: Here, we report the unique phenotype of an adult TUBB2B mutation carrier. This case illustrates a relatively mild phenotype compared to previously described fetal and early childhood cases. This highlights the importance of obtaining molecular genetic testing in individuals with a high probability of a genetic disease, including undiagnosed adult patients.

General trust impedes perception of self-reported primary psychopathy in thin slices of social interaction.

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Manson, Joseph H; Gervais, Matthew M; Bryant, Gregory A

2018-01-01

Little is known about people's ability to detect subclinical psychopathy from others' quotidian social behavior, or about the correlates of variation in this ability. This study sought to address these questions using a thin slice personality judgment paradigm. We presented 108 undergraduate judges (70.4% female) with 1.5 minute video thin slices of zero-acquaintance triadic conversations among other undergraduates (targets: n = 105, 57.1% female). Judges completed self-report measures of general trust, caution, and empathy. Target individuals had completed the Levenson Self-Report Psychopathy (LSRP) scale. Judges viewed the videos in one of three conditions: complete audio, silent, or audio from which semantic content had been removed using low-pass filtering. Using a novel other-rating version of the LSRP, judges' ratings of targets' primary psychopathy levels were significantly positively associated with targets' self-reports, but only in the complete audio condition. Judge general trust and target LSRP interacted, such that judges higher in general trust made less accurate judgments with respect to targets higher in primary and total psychopathy. Results are consistent with a scenario in which psychopathic traits are maintained in human populations by negative frequency dependent selection operating through the costs of detecting psychopathy in others.

General trust impedes perception of self-reported primary psychopathy in thin slices of social interaction.

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Joseph H Manson

Full Text Available Little is known about people's ability to detect subclinical psychopathy from others' quotidian social behavior, or about the correlates of variation in this ability. This study sought to address these questions using a thin slice personality judgment paradigm. We presented 108 undergraduate judges (70.4% female with 1.5 minute video thin slices of zero-acquaintance triadic conversations among other undergraduates (targets: n = 105, 57.1% female. Judges completed self-report measures of general trust, caution, and empathy. Target individuals had completed the Levenson Self-Report Psychopathy (LSRP scale. Judges viewed the videos in one of three conditions: complete audio, silent, or audio from which semantic content had been removed using low-pass filtering. Using a novel other-rating version of the LSRP, judges' ratings of targets' primary psychopathy levels were significantly positively associated with targets' self-reports, but only in the complete audio condition. Judge general trust and target LSRP interacted, such that judges higher in general trust made less accurate judgments with respect to targets higher in primary and total psychopathy. Results are consistent with a scenario in which psychopathic traits are maintained in human populations by negative frequency dependent selection operating through the costs of detecting psychopathy in others.

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...

Usefulness of primary care electronic networks to assess the incidence of chlamydia, diagnosed by general practitioners.

NARCIS (Netherlands)

Suijkerbuijk, A.W.M.; Broek, I.V.F. van den; Brouwer, H.J.; Vanrolleghem, A.M.; Joosten, J.H.K.; Verheij, R.A.; Sande, M.A.B. van der; Kretzschmar, M.E.E.

2011-01-01

BACKGROUND: Chlamydia is the most common curable sexually transmitted infection (STI) in the Netherlands. The majority of chlamydia diagnoses are made by general practitioners (GPs). Baseline data from primary care will facilitate the future evaluation of the ongoing large population-based screening

A relationship between bruxism and orofacial-dystonia? A trigeminal electrophysiological approach in a case report of pineal cavernoma.

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Frisardi, Gianni; Iani, Cesare; Sau, Gianfranco; Frisardi, Flavio; Leornadis, Carlo; Lumbau, Aurea; Enrico, Paolo; Sirca, Donatella; Staderini, Enrico Maria; Chessa, Giacomo

2013-10-28

In some clinical cases, bruxism may be correlated to central nervous system hyperexcitability, suggesting that bruxism may represent a subclinical form of dystonia. To examine this hypothesis, we performed an electrophysiological evaluation of the excitability of the trigeminal nervous system in a patient affected by pineal cavernoma with pain symptoms in the orofacial region and pronounced bruxism. Electrophysiological studies included bilateral electrical transcranial stimulation of the trigeminal roots, analysis of the jaw jerk reflex, recovery cycle of masseter inhibitory reflex, and a magnetic resonance imaging study of the brain. The neuromuscular responses of the left- and right-side bilateral trigeminal motor potentials showed a high degree of symmetry in latency (1.92 ms and 1.96 ms, respectively) and amplitude (11 mV and 11.4 mV, respectively), whereas the jaw jerk reflex amplitude of the right and left masseters was 5.1 mV and 8.9 mV, respectively. The test stimulus for the recovery cycle of masseter inhibitory reflex evoked both silent periods at an interstimulus interval of 150 ms. The duration of the second silent period evoked by the test stimulus was 61 ms and 54 ms on the right and left masseters, respectively, which was greater than that evoked by the conditioning stimulus (39 ms and 35 ms, respectively). We found evidence of activation and peripheral sensitization of the nociceptive fibers, the primary and secondary nociceptive neurons in the central nervous system, and the endogenous pain control systems (including both the inhibitory and facilitatory processes), in the tested subject. These data suggest that bruxism and central orofacial pain can coexist, but are two independent symptoms, which may explain why numerous experimental and clinical studies fail to reach unequivocal conclusions.

Asian over-representation among patients with hemifacial spasm compared to patients with cranial-cervical dystonia.

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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.

Radionuclide analyses taken during primary coolant decontamination at Three Mile Island indicate general circulation

International Nuclear Information System (INIS)

Hofstetter, K.J.; Baston, V.F.; Hitz, C.G.; Malinauskas, A.P.

1983-01-01

Radionuclide concentration data taken during decontamination of the primary reactor coolant system at Three Mile Island by a feed-and-bleed process have provided information on future defueling operations. Analysis of the radiocesium concentrations in samples taken at the letdown point indicates general circulation within the primary system, including the reactor vessel and both steam generators. A standard dilution model with parameters consistent with engineering estimates (volume, flow rate, etc.) accurately predicts the radiocesium decontamination rates. Unlike cesium, the behavior of other principal soluble radionuclides ( 90 Sr and 3 H) cannot be readily described by dilution theory. A significant appearance rate is observed for 90 Sr suggesting a chemical solubility mechanism. The use of processed water containing high 3 H for makeup causes uncertainty in the interpretation of the 3 H analysis

Reducing the use of out-of-hours primary care services: A survey among Dutch general practitioners

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Keizer, E.; Maassen, I.; Smits, M.; Wensing, M.; Giesen, P.

2016-01-01

BACKGROUND: Out-of-hours primary care services have a high general practitioner (GP) workload with increasing costs, while half of all contacts are non-urgent. OBJECTIVES: To identify views of GPs to influence the use of the out-of-hours GP cooperatives. METHODS: Cross-sectional survey study among a

Perceptions of primary care staff on a regional data quality intervention in Australian general practice: a qualitative study.

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Ghosh, Abhijeet; McCarthy, Sandra; Halcomb, Elizabeth

2016-04-26

Technological advances in clinical data capturing and storage systems have led to recent attempts at disease surveillance and region specific population health planning through regularly collected primary care administrative clinical data. However the accuracy and comprehensiveness of primary care health records remain questionable. We aimed to explore the perceptions and experiences of general practice staff in maintaining accurate patient health data within clinical software used in primary care settings of regional NSW. Focus groups were conducted with general practitioners, practice nurses and practice administrative staff from 17 practices in the Illawarra-Shoalhaven region of the state of New South Wales (NSW) in Australia that had participated in the Sentinel Practices Data Sourcing (SPDS) project - a general practice based chronic disease surveillance and data quality improvement study. A total of 25 respondents that included 12 general practitioners (GPs) and 13 practice staff participated in the 6 focus groups. Focus groups were audio-recorded and transcribed verbatim. Thematic analysis of the data was undertaken. Five key themes emerged from the data. Firstly, the theme of resourcing data management raised issues of time constraints, the lack of a dedicated data management role and the importance of multidisciplinary involvement, including a data champion. The need for incentives was identified as being important to motivate ongoing commitment to maintaining data quality. However, quality of software packages, including coding issues and software limitations and information technology skills were seen as key barriers. The final theme provided insight into the lessons learnt from the project and the increased awareness of the importance of data quality amongst practice staff. The move towards electronic methods of maintaining general practice patient records offers significant potential benefits in terms of both patient care and monitoring of health

Primary Intestinal Lymphangiectasia and its Association With Generalized Lymphatic Anomaly

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Victoria María Díaz Marugán

2016-01-01

Full Text Available Background: Lymph is a fluid originating in the interstitial spaces of the body that contains cells, proteins, particles, chylomicrons, and sometimes bacteria. Objectives: The aim of the present study is to demonstrate that primary intestinal lymphangiectasia (PIL results from a disruption of lymphatic circulation, thus corresponding to a secondary rather than a primary event in the context of generalized lymphatic anomaly. Materials and Methods: In this case series and record review, an analysis of intestinal lymphatic involvement was performed on patients diagnosed with PIL between 1965 and 2013. Of the 21 patients included in the study, 10 had been diagnosed before 5 years of age (1 prenatal, 8 between 5 and 18 years of age, and 3 while older than 18 years of age. The follow-up period varied between 1 and 34 years. Clinical data, blood and fecal parameters, imaging studies, endoscopy results, biopsy analyses, treatment details, and outcome information were collected from medical records. Endoscopy, histological studies, magnetic resonance imaging, and lymphoscintigraphy were performed on all patients. Dynamic intranodal lymphangiography was performed on 8 patients. Results: Central lymphatic channel obstruction was identified in 12 patients (57%. Associated lymphatic malformation (LM was present in 16, diarrhea in 10, chylothorax in 11, chylous ascites in 10, pericardial effusion in 6, coagulopathy in 3, and osteolysis in 7. Conclusions: We consider intestinal lymphangiectasia not as an entity in itself, but as a consequence of lymphatic flow impairment in the thoracic duct, producing chylous reflux into the intestinal lymphatics.

Distonia laríngea de adução: proposta e avaliação de protocolo de nasofibrolaringoscopia Adduction laryngeal dystonia: proposal and evaluation of nasofibroscopy

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Noemi Grigoletto De Biase

2006-08-01

Full Text Available Distonias são desordens orgânicas do processamento motor central caracterizadas por contrações musculares involuntárias e espasmos à fonação nas formas laríngeas adutoras, com quebras de sonoridade. O diagnóstico é clínico e baseado na avaliação perceptivo-auditiva da voz e nasofibroscopia. OBJETIVO: O nosso objetivo é propor e avaliar um protocolo de exame de nasofibrolaringoscopia que contemple tarefas que evidenciem os espasmos e tarefas que diminuam ou façam desaparecer os espasmos, visando facilitar a análise e o diagnóstico. MATERIAL E MÉTODO: Estudo transversal. Análise de imagens de 15 videonasolaringoscopias de pacientes com distonia laríngea de adução por meio do protocolo proposto. RESULTADOS: A maior parte das tarefas de fala e não-fonatórias permitiram a identificação de espasmos e a diminuição ou desaparecimento destes. Propomos a exclusão de duas delas que não acrescentaram dados à avaliação. CONCLUSÃO: O protocolo foi útil na avaliação dos pacientes, mostrando mudança de comportamento da musculatura nas estruturas estudadas conforme as tarefas executadas.Dystonias are organic central motor processing disorders characterized by involuntary muscular contractions or incontrollable spasms induced by task-specific movements. Adduction laryngeal dystonias present with important speech impairments, with inappropriate spasms and abrupt voice breaks. The diagnosis is based on clinical features, evaluation by a speech therapist and transnasal fiber optic laryngoscopy. AIM: Our objective is to propose and evaluate a task-oriented transnasal fiber optic laryngoscopy protocol, which shows the spasms, and propose maneuvers that reduce or make them disappear, in order to facilitate the diagnosis. METHODS: transversal study. Analysis of the transnasal fiber optic laryngoscopy records of 15 patients with adductor laryngeal dystonia using the proposed protocol. RESULTS: most of the speech and non-vocal tasks

Basic ICT adoption and use by general practitioners: an analysis of primary care systems in 31 European countries.

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De Rosis, Sabina; Seghieri, Chiara

2015-08-22

There is general consensus that appropriate development and use of information and communication technologies (ICT) are crucial in the delivery of effective primary care (PC). Several countries are defining policies to support and promote a structural change of the health care system through the introduction of ICT. This study analyses the state of development of basic ICT in PC systems of 31 European countries with the aim to describe the extent of, and main purposes for, computer use by General Practitioners (GPs) across Europe. Additionally, trends over time have been analysed. Descriptive statistical analysis was performed on data from the QUALICOPC (Quality and Costs of Primary Care in Europe) survey, to describe the geographic differences in the general use of computer, and in specific computerized clinical functions for different health-related purposes such as prescribing, medication checking, generating health records and research for medical information on the Internet. While all the countries have achieved a near-universal adoption of a computer in their primary care practices, with only a few countries near or under the boundary of 90 %, the computerisation of primary care clinical functions presents a wide variability of adoption within and among countries and, in several cases (such as in the southern and central-eastern Europe), a large room for improvement. At European level, more efforts could be done to support southern and central-eastern Europe in closing the gap in adoption and use of ICT in PC. In particular, more attention seems to be need on the current usages of the computer in PC, by focusing policies and actions on the improvement of the appropriate usages that can impact on quality and costs of PC and can facilitate an interconnected health care system. However, policies and investments seem necessary but not sufficient to achieve these goals. Organizational, behavioural and also networking aspects should be taken in consideration.

Series: The research agenda for general practice/family medicine and primary health care in Europe. Part 4. Results: specific problem solving skills.

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Hummers-Pradier, Eva; Beyer, Martin; Chevallier, Patrick; Eilat-Tsanani, Sophia; Lionis, Christos; Peremans, Lieve; Petek, Davorina; Rurik, Imre; Soler, Jean Karl; Stoffers, Henri Ejh; Topsever, Pinar; Ungan, Mehmet; van Royen, Paul

2010-09-01

The 'Research Agenda for General Practice/Family Medicine and Primary Health Care in Europe' summarizes the evidence relating to the core competencies and characteristics of the Wonca Europe definition of GP/FM, and its implications for general practitioners/family doctors, researchers and policy makers. The European Journal of General Practice publishes a series of articles based on this document. The previous articles presented background, objectives, and methodology, as well results on 'primary care management' and 'community orientation' and the person-related core competencies of GP/FM. This article reflects on the general practitioner's 'specific problem solving skills'. These include decision making on diagnosis and therapy of specific diseases, accounting for the properties of primary care, but also research questions related to quality management and resource use, shared decision making, or professional education and development. Clinical research covers most specific diseases, but often lacks pragmatism and primary care relevance. Quality management is a stronghold of GP/FM research. Educational interventions can be effective when well designed for a specific setting and situation. However, their message that 'usual care' by general practitioners is insufficient may be problematic. GP and their patients need more research into diagnostic reasoning with a step-wise approach to increase predictive values in a setting characterized by uncertainty and low prevalence of specific diseases. Pragmatic comparative effectiveness studies of new and established drugs or non-pharmaceutical therapy are needed. Multi-morbidity and complexity should be addressed. Studies on therapy, communication strategies and educational interventions should consider impact on health and sustainability of effects.

Patient safety in primary care: a survey of general practitioners in the Netherlands

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Wensing Michel

2010-01-01

Full Text Available Abstract Background Primary care encompasses many different clinical domains and patient groups, which means that patient safety in primary care may be equally broad. Previous research on safety in primary care has focused on medication safety and incident reporting. In this study, the views of general practitioners (GPs on patient safety were examined. Methods A web-based survey of a sample of GPs was undertaken. The items were derived from aspects of patient safety issues identified in a prior interview study. The questionnaire used 10 clinical cases and 15 potential risk factors to explore GPs' views on patient safety. Results A total of 68 GPs responded (51.5% response rate. None of the clinical cases was uniformly judged as particularly safe or unsafe by the GPs. Cases judged to be unsafe by a majority of the GPs concerned either the maintenance of medical records or prescription and monitoring of medication. Cases which only a few GPs judged as unsafe concerned hygiene, the diagnostic process, prevention and communication. The risk factors most frequently judged to constitute a threat to patient safety were a poor doctor-patient relationship, insufficient continuing education on the part of the GP and a patient age over 75 years. Language barriers and polypharmacy also scored high. Deviation from evidence-based guidelines and patient privacy in the reception/waiting room were not perceived as risk factors by most of the GPs. Conclusion The views of GPs on safety and risk in primary care did not completely match those presented in published papers and policy documents. The GPs in the present study judged a broader range of factors than in previously published research on patient safety in primary care, including a poor doctor-patient relationship, to pose a potential threat to patient safety. Other risk factors such as infection prevention, deviation from guidelines and incident reporting were judged to be less relevant than by policy

Patient safety in primary care: a survey of general practitioners in The Netherlands.

Science.gov (United States)

Gaal, Sander; Verstappen, Wim; Wensing, Michel

2010-01-21

Primary care encompasses many different clinical domains and patient groups, which means that patient safety in primary care may be equally broad. Previous research on safety in primary care has focused on medication safety and incident reporting. In this study, the views of general practitioners (GPs) on patient safety were examined. A web-based survey of a sample of GPs was undertaken. The items were derived from aspects of patient safety issues identified in a prior interview study. The questionnaire used 10 clinical cases and 15 potential risk factors to explore GPs' views on patient safety. A total of 68 GPs responded (51.5% response rate). None of the clinical cases was uniformly judged as particularly safe or unsafe by the GPs. Cases judged to be unsafe by a majority of the GPs concerned either the maintenance of medical records or prescription and monitoring of medication. Cases which only a few GPs judged as unsafe concerned hygiene, the diagnostic process, prevention and communication. The risk factors most frequently judged to constitute a threat to patient safety were a poor doctor-patient relationship, insufficient continuing education on the part of the GP and a patient age over 75 years. Language barriers and polypharmacy also scored high. Deviation from evidence-based guidelines and patient privacy in the reception/waiting room were not perceived as risk factors by most of the GPs. The views of GPs on safety and risk in primary care did not completely match those presented in published papers and policy documents. The GPs in the present study judged a broader range of factors than in previously published research on patient safety in primary care, including a poor doctor-patient relationship, to pose a potential threat to patient safety. Other risk factors such as infection prevention, deviation from guidelines and incident reporting were judged to be less relevant than by policy makers.

Development of a Scale for Domain General Perceived Control Scale Primary School ChildrensAND#8217;

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Esra Dereli

2012-06-01

Full Text Available SUMMARY AIM: This study aimed to develop a scale to measure domain general perceived control scale for elementary age children. METHOD: Participants were a total of 341 primary school children, 4th and f4th grade for 152 students, 6th, 7th and 8th grade for 162 students aged between 10-14.Skinner (1996, perceived control based on the theory is created 12-item scale of perceived control of the general form of the trial for primary education children and this form, within the scope of the research subjects, are given in order to make the validity and reliability studies. In order to test the validity of the scale developed, Satisfaction with Life was used. This scale was developed by Diener et al. (1985 and adapted into Turkish by Yetim (1993. RESULTS:Exploratory and confirmatory factor analysises and certain reliability analyses were used in the study. As a result of the analysis, four Likert-type five items scale were obtained. The findings revealed one -dimensional scale, 46.35% of whose variance was explained. Cronbach’s coefficient alpha provided evidence for the internal consistency of the exploratory the Scale. The reliability of the scale was 0.70 and indicated that the 5 item scale had good internal consistency for the sample. CONCLUSION: The scale that resulted was given the title “Scale for Primary School Children’ Time Orientation during Classroom Disengagement”. This instrument may be used in various studies in the future, thus contributing to the development of the field. [TAF Prev Med Bull 2012; 11(3.000: 331-338

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

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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.

Neurodegeneration with Brain Iron Accumulation

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... or occupational therapy, exercise physiology, and/or speech pathology. Many medications are available to treat the primary symptoms of dystonia and spasticity, including oral medications, intrathecal baclofen pump (in which a small ...

The primary care amplification model: taking the best of primary care forward

Directory of Open Access Journals (Sweden)

Nicholson Caroline

2008-12-01

Full Text Available Abstract Background Primary care internationally is approaching a new paradigm. The change agenda implicit in this threatens to de-stabilise and challenge established general practice and primary care. Discussion The Primary Care Amplification Model offers a means to harness the change agenda by 'amplifying' the strengths of established general practices around a 'beacon' practice. Conclusion Such 'beacon' practices can provide a mustering point for an expanded scope of practice for primary care, integrated primary/secondary service delivery, interprofessional learning, relevant local clinical research, and a focus on local service innovation, enhancing rather than fragmenting the collective capacity of existing primary care.

General practice, primary care, and health service psychology: concepts, competencies, and the Combined-Integrated model.

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Schulte, Timothy J; Isley, Elayne; Link, Nancy; Shealy, Craig N; Winfrey, LaPearl Logan

2004-10-01

The profession of psychology is being impacted profoundly by broader changes within the national system of health care, as mental and behavioral health services are being recognized as essential components of a comprehensive, preventive, and cost-efficient primary care system. To fully define and embrace this role, the discipline of professional psychology must develop a shared disciplinary identity of health service psychology and a generalized competency-based model for doctoral education and training. This very framework has been adopted by Combined-Integrated (C-I) doctoral programs in professional psychology, which train across the practice areas (clinical, counseling, and school psychology) to provide a general and integrative foundation for their students. Because C-I programs produce general practitioners who are competent to function within a variety of health service settings, this innovative training approach has great potential to educate and train psychologists for a changing health care marketplace. Copyright 2004 Wiley Periodicals, Inc.

Zinc Addition Effects on General Corrosion of Austenitic Stainless Steels in PWR Primary Conditions

International Nuclear Information System (INIS)

Qiao Peipeng; Zhang Lefu; Liu Ruiqin; Jiang Suqing; Zhu Fawen

2010-01-01

Zinc addition effects on general corrosion of austenitic stainless steel 316 and 304 were investigated in simulated PWR primary coolant without zinc or with 50 ppb zinc addition at 315 degree C for 500 h. The results show that with the addition of zinc, the corrosion rate of austenitic stainless steel is effectively reduced, the surface oxide film is thinner, the morphology and chemical composition of surface oxide scales are evidently different from those without zinc. There are needle-like corrosion products on the surface of stainless steel 304. (authors)

Raising the topic of weight in general practice: perspectives of GPs and primary care nurses.

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Blackburn, Maxine; Stathi, Afroditi; Keogh, Edmund; Eccleston, Christopher

2015-08-07

To explore general practitioners' (GPs) and primary care nurses' perceived barriers to raising the topic of weight in general practice. A qualitative study using the Theoretical Domains Framework (TDF). 34 semistructured interviews were conducted to explore views, opinions and experiences of initiating a discussion about weight. Content and thematic analyses were used to analyse the interview transcripts. General practices located in one primary care trust in the South West of England. 17 GPs and 17 nurses aged between 32 and 66 years. The modal age range for GPs was 30-39 years and for nurses, 40-49 years. Barriers were synthesised into three main themes: (1) limited understanding about obesity care, (2) concern about negative consequences, and (3) having time and resources to raise a sensitive topic. Most barriers were related to raising the topic in more routine settings, rather than when dealing with an associated medical condition. GPs were particularly worried about damaging their relationship with patients and emphasised the need to follow their patient's agenda. Uncertainty about obesity, concerns about alienating patients and feeling unable to raise the topic within the constraints of a 10 min consultation, is adding to the reluctance of GPs and nurses to broach the topic of weight. Addressing these concerns through training or by providing evidence of effective interventions that are feasible to deliver within consultations may lead to greater practitioner engagement and willingness to raise the topic. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Advanced training for primary care and general practice nurses: enablers and outcomes of postgraduate education.

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Hallinan, Christine M; Hegarty, Kelsey L

2016-01-01

The aims of the present study were to understand enablers to participation in postgraduate education for primary care nurses (PCNs), and to explore how postgraduate education has advanced their nursing practice. Cross-sectional questionnaires were mailed out in April 2012 to current and past students undertaking postgraduate studies in primary care nursing at The University of Melbourne, Victoria, Australia. Questionnaires were returned by 100 out of 243 nurses (response rate 41%). Ninety-one per cent (91/100) of the respondents were first registered as nurses in Australia. Fifty-seven per cent were hospital trained and 43% were university educated to attain their initial nurse qualification. The respondents reported opportunities to expand scope of practice (99%; 97/98), improve clinical practice (98%; 97/99), increase work satisfaction (93%; 91/98) and increase practice autonomy (92%; 89/97) as factors that most influenced participation in postgraduate education in primary care nursing. Major enablers for postgraduate studies were scholarship access (75%; 71/95) and access to distance education (74%; 72/98). Many respondents reported an increased scope of practice (98%; 95/97) and increased job satisfaction (71%; 70/98) as an education outcome. Only 29% (28/97) cited an increase in pay-rate as an outcome. Of the 73 PCNs currently working in general practice, many anticipated an increase in time spent on the preparation of chronic disease management plans (63%; 45/72), multidisciplinary care plans (56%; 40/72) and adult health checks (56%; 40/72) in the preceding 12 months. Recommendations emerging from findings include: (1) increased access to scholarships for nurses undertaking postgraduate education in primary care nursing is imperative; (2) alternative modes of course delivery need to be embedded in primary care nursing education; (3) the development of Australian primary care policy, including policy on funding models, needs to more accurately reflect the

General practitioners versus other physicians in the quality of primary care: a cross-sectional study in Guangdong Province, China.

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Zou, Yaming; Zhang, Xiao; Hao, Yuantao; Shi, Leiyu; Hu, Ruwei

2015-10-09

The primary care in China can be provided by general practitioners (GPs) and other physicians (non-GPs). However, China's general practice system has never been really established. Chinese patients tend to consider the quality of primary care provided by GPs much lower than that of non-GPs. Besides, many GPs presently prefer leaving their own positions and seeking better development in big hospitals, which has made the already weak GP system weaker. Yet, few studies have specially compared the quality of primary care provided by Chinese GPs and other physicians and no studies have explored the independent predictors of Chinese GPs' intentions to stay on their current job. In this study, we aimed to compare the quality of primary care offered by GPs with non-GPs and to explore the independent predictors of GPs' future work intentions. This cross-sectional study applied multi-stage random cluster sampling methodology. The data were collected from November 2013 to September 2014 in Guangdong Province. In total, 401 effective questionnaires were selected from the physicians. Quality of primary care was assessed using the Primary Care Assessment Tool (PCAT) Provider Part, representing six primary care domains: ongoing care, coordination (i.e., referrals and information systems), comprehensiveness (i.e., service available and service provided), family-centeredness, community orientation and cultural competence. Of 401 participating physicians, 163 (40.6 %) were GPs. The total PCAT score was 26.32 ± 2.24 which was the sum score of the six domains and represent the quality of primary care. GPs achieved significantly different total scores and scores on three individual scales: comprehensiveness: service available, comprehensiveness: service provided and community orientation. Multiple linear regressions revealed GPs had a higher total score and scores for comprehensiveness: service provided and community orientation after adjusting for sociodemographic characteristics

RELATIONS BETWEEN GENERAL MOTOR SKILLS AND HANDBALL SPECIFIC TEST "BALL SLALOM" IN STUDENTS OF THE IV GRADE OF PRIMARY SCHOOL

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Dragan Branković

2012-09-01

Full Text Available Teaching physical education and physical training of children, should be appropriate to their age abilities and needs. Acquire the diversified movement experience is a priority of physical education in junior school age. Students fourth grade of primary school - age 10-11 years, in the sensitive period for developing coordination and speed capabilities. Sports game handball and mode of the game "mini-handball", which is adapted to students age abilities and spatial characteristics of the majority of primary schools, abundant with various tasks, specifically dominated by natural forms of movement - running, jumping, throwing. Therefore, handball has a significant role in solving the tasks of physical education. The specific motor tests and relations with the general motor skills are particularly important for continuous monitoring of motor development of children. The survey was conducted on 79 boys fourth grade of primary school who participated in the electoral sport of handball in the regular physical education classes. The results of the handball test "ball slalom" and its relation with general motor skills of students fourth grade of primary school, should contribute to the perception of the value of handball as the content of physical education, but also to contribute to the selection and forecast performance of children in handball.

Systemic Lupus Erythematosus in Primary Care: An Update and Practical Messages for the General Practitioner

Science.gov (United States)

Gergianaki, Irini; Bertsias, George

2018-01-01

Systemic Lupus Erythematosus (SLE) is a complex chronic autoimmune disease that manifests a wide range of organ involvement. Traditionally, the diagnosis and management of SLE is provided at secondary and tertiary centers to ensure prompt initiation of treatment, adequate control of flares and prevention of irreversible organ damage. Notwithstanding, the role of primary care in SLE is also emerging as there are still significant unmet needs such as the diagnostic delay at the community level and the high burden of therapy- and disease-related comorbidities. In the present review, we summarize practical messages for primary care physicians and general practitioners (GPs) concerning early diagnosis and proper referral of patients with SLE. In addition, we discuss the main comorbidities complicating the disease course and the recommended preventative measures, and we also provide an update on the role and current educational needs of GPs regarding the disease. PMID:29896474

Psychopathology of the General Population Referred by Primary Care Physicians for Urgent Assessment in Psychiatric Hospitals

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Judith McLenan

2016-12-01

Full Text Available Objective: The aim of this study was to evaluate the type, severity and progression of psychiatric pathologies in a sample of 372 outpatients (age range 18–65 years referred by their primary general practitioners (GPs to an Urgent Referral Team (URT based in a psychiatric hospital in Aberdeen, Scotland. This team offers immediate appointments (1- to 7-day delays for rapid assessments and early interventions to the outpatients referred by their primary family doctors.Method: One-sample t-test and z statistic were used for data analysis. From the total population, a convenience sample of 40 people was selected and assessed to evaluate whether follow-up appointments after the first visit could reduce the severity of suicidal ideation, depression and anxiety in the outpatients seen by the URT. A two-sample t-test and a Wilcoxon signed-rank test were used to assess the variations in the scores during the follow-up visits.Results: We found a statistically significant prevalence of depressive disorders, comorbid with anxiety at first presentation in people who were females, white, never married, living with a partner, not studying and not in paid employment. The common presentation of borderline personality disorder and dysthymia in this population underscores its vulnerability to major socioeconomic challenges.Conclusion: The data confirmed the impact that primary care cooperation with psychiatric hospitals can have on the psychiatric system, and as a reflection, on the population’s mental health and well-being. In fact, active cooperation and early diagnosis and intervention will help detect cases at risk in the general population and reduce admissions into hospitals.

Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.

Science.gov (United States)

Yokoi, Fumiaki; Yang, Guang; Li, Jindong; DeAndrade, Mark P; Zhou, Tong; Li, Yuqing

2010-10-01

DYT1 early-onset generalized torsion dystonia is an inherited movement disorder caused by mutations in DYT1 coding for torsinA with ∼30% penetrance. Most of the DYT1 dystonia patients exhibit symptoms during childhood and adolescence. On the other hand, DYT1 mutation carriers without symptoms during these periods mostly do not exhibit symptoms later in their life. Little is known about what controls the timing of the onset, a critical issue for DYT1 mutation carriers. DYT11 myoclonus-dystonia is caused by mutations in SGCE coding for ε-sarcoglycan. Two dystonia patients from a single family with double mutations in DYT1 and SGCE exhibited more severe symptoms. A recent study suggested that torsinA contributes to the quality control of ε-sarcoglycan. Here, we derived mice carrying mutations in both Dyt1 and Sgce and found that these double mutant mice showed earlier onset of motor deficits in beam-walking test. A novel monoclonal antibody against mouse ε-sarcoglycan was developed by using Sgce knock-out mice to avoid the immune tolerance. Western blot analysis suggested that functional deficits of torsinA and ε-sarcoglycan may independently cause motor deficits. Examining additional mutations in other dystonia genes may be beneficial to predict the onset in DYT1 mutation carriers.

Large scale comparative codon-pair context analysis unveils general rules that fine-tune evolution of mRNA primary structure.

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Gabriela Moura

Full Text Available BACKGROUND: Codon usage and codon-pair context are important gene primary structure features that influence mRNA decoding fidelity. In order to identify general rules that shape codon-pair context and minimize mRNA decoding error, we have carried out a large scale comparative codon-pair context analysis of 119 fully sequenced genomes. METHODOLOGIES/PRINCIPAL FINDINGS: We have developed mathematical and software tools for large scale comparative codon-pair context analysis. These methodologies unveiled general and species specific codon-pair context rules that govern evolution of mRNAs in the 3 domains of life. We show that evolution of bacterial and archeal mRNA primary structure is mainly dependent on constraints imposed by the translational machinery, while in eukaryotes DNA methylation and tri-nucleotide repeats impose strong biases on codon-pair context. CONCLUSIONS: The data highlight fundamental differences between prokaryotic and eukaryotic mRNA decoding rules, which are partially independent of codon usage.

Clinical characterization of [sexual function disorders obseved for men suffering of vegeto-vascular dystonia who participated in liquidating the consequences of ChNPP accident

International Nuclear Information System (INIS)

Gorbov, V.G.

1992-01-01

152 men (age ranging from 25 to 55) suffering of vegeto-vascular dystonia have been examined from the point of view of structure and clinical features of the sexual pathology as well as the role of autonomic nervous system in pathologenesis of sexual abnormalities. For all the patients sexual disorders manifested to diferent degrees have been disclosed. Risc factors of occurring sexual disorders; inflammation of epididymis sexual glands and gonads have been estimated. The influence of shift method of work and conjugal dysharmony on the risc factors has been studied. Chromic prostatitis is the most frequently occurring risc factor (45%). No direct correlation dependence of the sexual disorder gravity on the total radiation dose to which the patients were exposed has been observed. 11 refs.; 1 tab

Sonographic detection of basal ganglia abnormalities in spasmodic dysphonia.

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Walter, U; Blitzer, A; Benecke, R; Grossmann, A; Dressler, D

2014-02-01

Abnormalities of the lenticular nucleus (LN) on transcranial sonography (TCS) are a characteristic finding in idiopathic segmental and generalized dystonia. Our intention was to study whether TCS detects basal ganglia abnormalities also in spasmodic dysphonia, an extremely focal form of dystonia. Transcranial sonography of basal ganglia, substantia nigra and ventricles was performed in 14 patients with spasmodic dysphonia (10 women, four men; disease duration 16.5 ± 6.1 years) and 14 age- and sex-matched healthy controls in an investigator-blinded setting. Lenticular nucleus hyperechogenicity was found in 12 spasmodic dysphonia patients but only in one healthy individual (Fisher's exact test, P spasmodic dysphonia severity (Spearman test, r = 0.82, P spasmodic dysphonia to that of more widespread forms of dystonia. © 2013 The Author(s) European Journal of Neurology © 2013 EFNS.

Generalized peritonitis due to perforated diverticulitis: Hartmann's procedure or primary anastomosis?

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Trenti, Loris; Biondo, Sebastiano; Golda, Thomas; Monica, Millan; Kreisler, Esther; Fraccalvieri, Domenico; Frago, Ricardo; Jaurrieta, Eduardo

2011-03-01

Hartmann's procedure (HP) still remains the most frequently performed procedure for diffuse peritonitis due to perforated diverticulitis. The aims of this study were to assess the feasibility and safety of resection with primary anastomosis (RPA) in patients with purulent or fecal diverticular peritonitis and review morbidity and mortality after single stage procedure and Hartmann in our experience. From January 1995 through December 2008, patients operated for generalized diverticular peritonitis were studied. Patients were classified into two main groups: RPA and HP. A total of 87 patients underwent emergency surgery for diverticulitis complicated with purulent or diffuse fecal peritonitis. Sixty (69%) had undergone HP while RPA was performed in 27 patients (31%). At the multivariate analysis, RPA was associated with less post-operative complications (P clinical anastomotic leakage and needed re-operation. RPA can be safely performed without adding morbidity and mortality in cases of diffuse diverticular peritonitis. HP should be reserved only for hemodynamically unstable or high-risk patients. Specialization in colorectal surgery improves mortality and raises the percentage of one-stage procedures.

Meningococcal vaccination in primary care amongst adolescents in North West England: an ecological study investigating associations with general practice characteristics.

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Blagden, Sarah; Hungerford, Daniel; Limmer, Mark

2018-01-27

In 2015 the meningococcal ACWY (MenACWY) vaccination was introduced amongst adolescents in England following increased incidence and mortality associated with meningococcal group W. MenACWY vaccination uptake data for 17-18 years old and students delivered in primary care were obtained for 20 National Health Service clinical commissioning groups (CCGs) via the ImmForm vaccination system. Data on general practice characteristics, encompassing demographics and patient satisfaction variables, were extracted from the National General Practice Profiles resource. Univariable analysis of the associations between practice characteristics and vaccination was performed, followed by multivariable negative binomial regression. Data were utilized from 587 general practices, accounting for ~8% of all general practices in England. MenACWY vaccination uptake varied from 20.8% to 46.8% across the CCGs evaluated. Upon multivariable regression, vaccination uptake increased with increasing percentage of patients from ethnic minorities, increasing percentage of patients aged 15-24 years, increasing percentage of patients that would recommend their practice and total Quality and Outcomes Framework achievement for the practice. Conversely, vaccination uptake decreased with increasing deprivation. This study has identified several factors independently associated with MenACWY vaccination in primary care. These findings will enable a targeted approach to improve general practice-level vaccination uptake. © The Author(s) 2018. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com

Differential diagnosis of neuroses and vegetative dystonias among medical personnel exposed to chronic effect of occupational low dose irradiation. Part 2

International Nuclear Information System (INIS)

Jonkova, A.

1987-01-01

An ttempt to differentiate the importance of radiation factor in the origination of functional changes in nervous activity is made. Clinical methods are applied to 456 madical workers occupationally exposed to ionizing radiation as well as to a control group of 300 medical workers. 100 subjects from each group have been investigated by inquiry psychological methods. No dependence is established between the incidence of neurasthenic neuroses and the duration of service, the cumulative equivalent doses respectively, being within the range of 25 mSv - 1.6 Sv. Asthenic states of the nervous system, not included in the clinical picture of neuroses and other diseases, have not been diagnosed. The significantly higher incidence of vegetative dystonias among the female medical personnel, working with sources and environment of ionizing radiation with a length of service over 15 years, is discussed in causal relationship with the radiation factor. 4 tabs., 15 refs

Primary health eye care knowledge among general practitioners ...

African Journals Online (AJOL)

2010-05-10

May 10, 2010 ... A significant percentage of patients seen at the primary health care level (district ... (GPs) are forced to rely on the knowledge acquired from their limited .... accurate in screening patients for diabetic retinopathy.4. In this study ...

Medical overuse and quaternary prevention in primary care - A qualitative study with general practitioners.

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Alber, Kathrin; Kuehlein, Thomas; Schedlbauer, Angela; Schaffer, Susann

2017-12-08

Medical overuse is a topic of growing interest in health care systems and especially in primary care. It comprises both over investigation and overtreatment. Quaternary prevention strategies aim at protecting patients from unnecessary or harmful medicine. The objective of this study was to gain a deeper understanding of relevant aspects of medical overuse in primary care from the perspective of German general practitioners (GPs). We focused on the scope, consequences and drivers of medical overuse and strategies to reduce it (=quaternary prevention). We used the qualitative Grounded Theory approach. Theoretical sampling was carried out to recruit GPs in Bavaria, Germany. We accessed the field of research through GPs with academic affiliation, recommendations by interview partners and personal contacts. They differed in terms of primary care experience, gender, region, work experience abroad, academic affiliation, type of specialist training, practice organisation and position. Qualitative in-depth face-to-face interviews with a semi-structured interview guide were conducted (n = 13). The interviews were audiotaped and transcribed verbatim. Data analysis was carried out using open and axial coding. GPs defined medical overuse as unnecessary investigations and treatment that lack patient benefit or bear the potential to cause harm. They observed that medical overuse takes place in all three German reimbursement categories: statutory health insurance, private insurance and individual health services (direct payment). GPs criticised the poor acceptance of gate-keeping in German primary care. They referred to a low-threshold referral policy and direct patient access to outpatient secondary care, leading to specialist treatment without clear medical indication. The GPs described various direct drivers of medical overuse within their direct area of influence. They also emphasised indirect drivers related to system or societal processes. The proposed strategies for

Dopa-responsive dystonia: functional analysis of single nucleotide substitutions within the 5' untranslated GCH1 region.

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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.

Association of general psychological factors with frequent attendance in primary care: a population-based cross-sectional observational study.

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Hajek, André; Bock, Jens-Oliver; König, Hans-Helmut

2017-03-24

Whereas several studies have examined the association between frequent attendance in primary care and illness-specific psychological factors, little is known about the relation between frequent attendance and general psychological factors. Thus, the aim of this study was to investigate the association between being a frequent attender in primary care and general psychological factors. Data were used from a large, population-based sample of community-dwelling individuals aged 40 and above in Germany in 2014 (n = 7,446). Positive and negative affect, life satisfaction, optimism, self-esteem, self-efficacy, and self-regulation were included as general psychological factors. The number of self-reported GP visits in the past twelve months was used to quantify frequency of attendance; individuals with more than 9 visits (highest decile) were defined as frequent attenders. Multiple logistic regressions showed that being a frequent attender was positively associated with less life satisfaction [OR: 0.79 (0.70-0.89)], higher negative affect [OR: 1.38 (1.17-1.62)], less self-efficacy [OR: 0.74 (0.63-0.86)], less self-esteem [OR: 0.65 (0.54-0.79)], less self-regulation [OR: 0.74 (0.60-0.91)], and higher perceived stress [OR: 1.46 (1.28-1.66)], after adjusting for sociodemographic factors, morbidity and lifestyle factors. However, frequent attendance was not significantly associated with positive affect and self-regulation. The present study highlights the association between general psychological factors and frequent attendance. As frequent GP visits produce high health care costs and are potentially associated with increased referrals and use of secondary health care services, this knowledge might help to address these individuals with high needs.

Nutritional counselling in primary health care: a randomized comparison of an intervention by general practitioner or dietician

DEFF Research Database (Denmark)

Willaing, Ingrid; Ladelund, Steen; Jørgensen, Torben

2004-01-01

AIMS: To compare health effects and risk reduction in two different strategies of nutritional counselling in primary health care for patients at high risk of ischaemic heart disease. METHODS: In a cluster-randomized trial 60 general practitioners (GPs) in the Copenhagen County were randomized...... to give nutritional counselling or to refer patients to a dietician. Patients were included after opportunistically screening (n=503 patients), and received nutritional counselling by GP or dietician over 12 months. Health effects were measured by changes in weight, waist circumference and blood lipids....... Risk of cardiovascular disease was calculated by The Copenhagen Risk Score. Data on use of medicine and primary health care was obtained from central registers. RESULTS: Altogether 339 (67%) patients completed the intervention. Weight loss was larger in the dietician group (mean 4.5 kg vs. 2.4 kg...

Surgery under general anaesthesia in severe hidradenitis suppurativa: a study of 363 primary operations in 113 patients.

Science.gov (United States)

Blok, J L; Boersma, M; Terra, J B; Spoo, J R; Leeman, F W J; van den Heuvel, E R; Huizinga, J; Jonkman, M F; Horváth, B

2015-08-01

Treatment of hidradenitis suppurativa (HS) is a difficult undertaking, especially as there is no consensus on what surgical technique is preferred. At our centre severe HS (Hurley II/III) is operated under general anaesthesia, mostly with the STEEP procedure. To investigate characteristics, surgical outcomes and patient satisfaction of HS patients who underwent deroofing or STEEP under general anaesthesia. A clinical records-based retrospective analysis was conducted of all patients who had surgery under general anaesthesia between 1999 and 2013. Patient satisfaction was retrospectively investigated with questionnaires. A total of 482 operations (363 primary operations and 119 re-operations) were performed during the study period. The proportion of women in the included population was 68%. The median diagnostic delay (patient's and doctor's delay) was 6.5 years. Relapses occurred after 29.2% of primary operations. Women had higher relapse rates than men [odds ratio 2.85 (1.07;7.61)]. Hypergranulation of the wound was the most common complication and occurred in 7% of all operations. The median score patients attributed to the medical effect of surgery was eight of 10 (zero corresponding to very dissatisfied and 10 to very satisfied). The diagnostic delay in HS is long due to a lack of knowledge in both patients and health care professionals, indicating that there is a need for education. Deroofing and the STEEP are effective surgical procedures in severe cases of HS and lead to a relatively high patient satisfaction. The postoperative relapse risk is higher in women. Prospective studies are required for the development of clear guidelines on the appropriate choice of surgery. © 2015 European Academy of Dermatology and Venereology.

The historical development of the Dutch Sentinel General Practice Network from a paper based into a digital primary care monitoring system.

NARCIS (Netherlands)

Schweikardt, C.; Verheij, R.A.; Donker, G.A.; Coppieters, Y.

2016-01-01

Aim: The Dutch Sentinel General Practice Network (SGPN) was founded in 1970 for disease surveillance in primary care, based on paper questionnaires. Advances in information technology offered new prospects of data collection from electronic health records (EHRs). This study investigates the

O uso da toxina botulínica no tratamento da distonia laríngea (disfonia espasmódica: estudo preliminar com doze pacientes Use of botulinum toxin in the treatment of laryngeal dystonia (spasmodic dysphonia: preliminary study of twelve patients

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Hélio A. G. Teive

2001-03-01

Full Text Available A distonia laríngea (disfonia espasmódica é distúrbio do movimento caracterizado por contrações involuntárias da musculatura laríngea envolvida no processo de vocalização. A utilização da toxina botulínica no tratamento da distonia laríngea trouxe consideráveis benefícios clínicos. Descrevemos os resultados preliminares do uso terapêutico da toxina botulínica no tratamento da distonia laríngea em 12 pacientes. Após investigação clínica, os pacientes foram submetidos a videolaringoestroboscopia para confirmação diagnóstica e as injeções de toxina botulínica foram realizadas através de punção da membrana cricotireóidea em direção ao músculo tireoaritenóideo, com uso de eletromiografia. A maioria dos pacientes submetidos ao tratamento com toxina botulínica apresentou melhora significativa da distonia laríngea (83% dos casos, com duração média do efeito de quatro meses, sem efeitos colaterais significativos.Laryngeal dystonia (spasmodic dysphonia is a movement disorder characterized by involuntary contractions of laryngeal muscles involved with vocalization. The introduction of botulinum toxin in the treatment of laryngeal dystonia had a major clinical impact due to the striking improvement of symptoms. We report the preliminary results of therapeutical use of botulinum toxin in the treatment of twelve patients with laryngeal dystonia. After an extensive clinical evaluation, the patients underwent a videostroboscopic exam for diagnostic confirmation. Botulinum toxin was injected in the cricothyreoid membrane, directed towards the thyreoaritenoid muscle, with the aid of eletromyography needles. Most of patients who underwent botulinum toxin injection had a significant improvement of their symptoms (83%, with effects lasting for four months in average and without important side effects.

Healthcare utilization in general practice before and after psychological treatment: a follow-up data linkage study in primary care.

Science.gov (United States)

Prins, Marijn A; Verhaak, Peter F M; Smit, Dineke; Verheij, Robert A

2014-09-01

Literature suggests that serious mental health problems increase the use of health services and psychological interventions can reduce this effect. This study investigates whether this effect is also found in primary care patients with less serious mental health problems. Routine electronic health records (EHR) from a representative sample of 128 general practices were linked to patient files from 150 primary care psychologists participating in the NIVEL Primary Care Database, using a trusted third party. Data were linked using the date of birth, gender, and postcode. This yielded 503 unique data pairs that were listed in one of the participating GP practices in 2008-2010, for people who had psychological treatment from a psychologist that ended in 2009. The number of contacts, health problems presented, and prescribed medication in general practice were analysed before and after the psychological treatment. Nearly all 503 patients consulted their GP during the six months preceding the psychological treatment (90.9%) and also in the six months after this treatment had ended (83.7%). The frequency of contacts was significantly higher before than after the psychological treatment (6.1 vs. 4.8). Fewer patients contacted their GPs specifically for psychological or social problems (46.3% vs. 38.8%) and fewer patients had anxiolytic drug prescriptions (15.5% vs. 7.6%) after psychological treatment. After psychological treatment, patients contact their GPs less often and present fewer psychological or social problems. Although contact rates seem to decrease, clients of psychologists are still frequent GP attenders.

A loud auditory stimulus overcomes voluntary movement limitation in cervical dystonia.

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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.

Developing a Deep Brain Stimulation Neuromodulation Network for Parkinson Disease, Essential Tremor, and Dystonia: Report of a Quality Improvement Project.

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Richard B Dewey

Full Text Available To develop a process to improve patient outcomes from deep brain stimulation (DBS surgery for Parkinson disease (PD, essential tremor (ET, and dystonia.We employed standard quality improvement methodology using the Plan-Do-Study-Act process to improve patient selection, surgical DBS lead implantation, postoperative programming, and ongoing assessment of patient outcomes.The result of this quality improvement process was the development of a neuromodulation network. The key aspect of this program is rigorous patient assessment of both motor and non-motor outcomes tracked longitudinally using a REDCap database. We describe how this information is used to identify problems and to initiate Plan-Do-Study-Act cycles to address them. Preliminary outcomes data is presented for the cohort of PD and ET patients who have received surgery since the creation of the neuromodulation network.Careful outcomes tracking is essential to ensure quality in a complex therapeutic endeavor like DBS surgery for movement disorders. The REDCap database system is well suited to store outcomes data for the purpose of ongoing quality assurance monitoring.

Diagnosing somatisation disorder (P75) in routine general practice using the International Classification of Primary Care.

Science.gov (United States)

Schaefert, Rainer; Laux, Gunter; Kaufmann, Claudia; Schellberg, Dieter; Bölter, Regine; Szecsenyi, Joachim; Sauer, Nina; Herzog, Wolfgang; Kuehlein, Thomas

2010-09-01

(i) To analyze general practitioners' diagnosis of somatisation disorder (P75) using the International Classification of Primary Care (ICPC)-2-E in routine general practice. (ii) To validate the distinctiveness of the ICD-10 to ICPC-2 conversion rule which maps ICD-10 dissociative/conversion disorder (F44) as well as half of the somatoform categories (F45.0-2) to P75 and codes the other half of these disorders (F45.3-9), including autonomic organ dysfunctions and pain syndromes, as symptom diagnoses plus a psychosocial code in a multiaxial manner. Cross-sectional analysis of routine data from a German research database comprising the electronic patient records of 32 general practitioners from 22 practices. For each P75 patient, control subjects matched for age, gender, and practice were selected from the 2007 yearly contact group (YCG) without a P75 diagnosis using a propensity-score algorithm that resulted in eight controls per P75 patient. Of the 49,423 patients in the YCG, P75 was diagnosed in 0.6% (302) and F45.3-9 in 1.8% (883) of cases; overall, somatisation syndromes were diagnosed in 2.4% of patients. The P75 coding pattern coincided with typical characteristics of severe, persistent medically unexplained symptoms (MUS). F45.3-9 was found to indicate moderate MUS that otherwise showed little clinical difference from P75. Pain syndromes exhibited an unspecific coding pattern. Mild and moderate MUS were predominantly recorded as symptom diagnoses. Psychosocial codes were rarely documented. ICPC-2 P75 was mainly diagnosed in cases of severe MUS. Multiaxial coding appears to be too complicated for routine primary care. Instead of splitting P75 and F45.3-9 diagnoses, it is proposed that the whole MUS spectrum should be conceptualized as a continuum model comprising categorizations of uncomplicated (mild) and complicated (moderate and severe) courses. Psychosocial factors require more attention. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Evaluation of generalized pruritus in patients without primary skin lesions in Razi Hospital

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Jomhori P

2001-09-01

Full Text Available Pruritus is an unpleasant sensation that provokes the desire to scratch. It has long been recognized as a presenting or concomitant symptom of many systemic diseases. Indeed, generalized pruritus is reported to be associated with underlying diseases in 10-50 percent of cases. This study was conducted to investigate the underlying diseases in pruritic patients without primary skin lesion. Seventy-five patients with at least one-month history of pruritus with no primary skin lesions, presenting to dermatological clinics of Razi Hospital, from April 97 until December 99 were evaluated. The work up procedure consisted of medical history, physical examination, laboratory findings (CBC, ESR, blood chemistry, thyroid function tests, urinalysis, stool exam, chest X-ray and in selected cases, additional specific tests. Fifty-four patients were female, and 21 male the mean age was 45.7y±16.41, and the mean duration of pruritus, 21.8m±21. In 43 patients (75.4 percent, no abnormal finding was detected. Five patients (6.66 percent had atopy. In the remaining 27 patients (36 percent, the following abnormalities were found: Iron deficiency in 6 patients (8 percent, diabetes mellitus in 6 patients (8 percent, hyperthyroidism in 4 patients (5.33 percent, hypothyroidism in 2 patients (2.66 percent, lymphoma in 3 patients (4 percent, chronic hepatitis, hypocalcaemia, cholelithiasis, psychosis and chronic renal failure each in one patient (1.3 percent. Evaluation of patients with pruritus may be a valuable tool for early detection of underlying systemic diseases.

Patients' satisfaction with healthcare: comparing general practice ...

African Journals Online (AJOL)

Patients' satisfaction with healthcare: comparing general practice services in a tertiary and primary healthcare settings. ... Nigerian Health Journal ... This research compared the level of patients' satisfaction with general practice care delivered at physicians-manned General Outpatient clinics at tertiary and primary health ...

Primary care access for mental illness in Australia: Patterns of access to general practice from 2006 to 2016.

Science.gov (United States)

Farrer, Louise M; Walker, Jennie; Harrison, Christopher; Banfield, Michelle

2018-01-01

General practice has an important role within the Australian healthcare system to provide access to care and effective management of chronic health conditions. However, people with serious mental illness experience challenges associated with service access. The current paper seeks to examine drivers of access to general practice for people with common and serious mental disorders, compared with people who access care for type II diabetes, a common physical health problem managed in general practice. The Bettering the Evaluation and Care of Health (BEACH) programme provides the most comprehensive and objective measurement of general practitioner activity in Australia. Using BEACH data, this study compared general practice encounters for depression, anxiety, bipolar disorder, schizophrenia, and type II diabetes during a 10-year period between 2006 and 2016. Analysis revealed more frequent encounters for depression compared to anxiety, and a higher representation of women in encounters for bipolar disorder compared to men. The relationship between number of encounters and patient age was strongly associated with the life course and mortality characteristics associated with each disorder. The findings highlight specific challenges associated with access to primary care for people with serious mental illness, and suggest areas of focus to improve the ability of these patients to access and navigate the health system.

The Melbourne East Monash General Practice Database (MAGNET: Using data from computerised medical records to create a platform for primary care and health services research

Directory of Open Access Journals (Sweden)

Danielle Mazza

2016-07-01

Full Text Available The Melbourne East MonAsh GeNeral PracticE DaTabase (MAGNET research platform was launched in 2013 to provide a unique data source for primary care and health services research in Australia.  MAGNET contains information from the computerised records of 50 participating general practices and includes data from the computerised medical records of more than 1,100,000 patients.  The data extracted is patient-level episodic information and includes a variety of fields related to patient demographics and historical clinical information, along with the characteristics of the participating general practices.  While there are limitations to the data that is currently available, the MAGNET research platform continues to investigate other avenues for improving the breadth and quality of data, with the aim of providing a more comprehensive picture of primary care in Australia

The Melbourne East Monash General Practice Database (MAGNET): Using data from computerised medical records to create a platform for primary care and health services research.

Science.gov (United States)

Mazza, Danielle; Pearce, Christopher; Turner, Lyle Robert; De Leon-Santiago, Maria; McLeod, Adam; Ferriggi, Jason; Shearer, Marianne

2016-07-04

The Melbourne East MonAsh GeNeral PracticE DaTabase (MAGNET) research platform was launched in 2013 to provide a unique data source for primary care and health services research in Australia.  MAGNET contains information from the computerised records of 50 participating general practices and includes data from the computerised medical records of more than 1,100,000 patients.  The data extracted is patient-level episodic information and includes a variety of fields related to patient demographics and historical clinical information, along with the characteristics of the participating general practices.  While there are limitations to the data that is currently available, the MAGNET research platform continues to investigate other avenues for improving the breadth and quality of data, with the aim of providing a more comprehensive picture of primary care in Australia.

The role of the General Practitioner in weight management in primary care – a cross sectional study in General Practice

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Young Doris

2008-12-01

Full Text Available Abstract Background Obesity has become a global pandemic, considered the sixth leading cause of mortality by the WHO. As gatekeepers to the health system, General Practitioners are placed in an ideal position to manage obesity. Yet, very few consultations address weight management. This study aims to explore reasons why patients attending General Practice appointments are not engaging with their General Practitioner (GP for weight management and their perception of the role of the GP in managing their weight. Methods In February 2006, 367 participants aged between 17 and 64 were recruited from three General Practices in Melbourne to complete a waiting room self – administered questionnaire. Questions included basic demographics, the role of the GP in weight management, the likelihood of bringing up weight management with their GP and reasons why they would not, and their nominated ideal person to consult for weight management. Physical measurements to determine weight status were then completed. The statistical methods included means and standard deviations to summarise continuous variables such as weight and height. Sub groups of weight and questionnaire answers were analysed using the χ2 test of significant differences taking p as Results The population sample had similar obesity co-morbidity rates to the National Heart Foundation data. 74% of patients were not likely to bring up weight management when they visit their GP. Negative reasons were time limitation on both the patient's and doctor's part and the doctor lacking experience. The GP was the least likely person to tell a patient to lose weight after partner, family and friends. Of the 14% that had been told by their GP to lose weight, 90% had cardiovascular obesity related co-morbidities. GPs (15% were 4th in the list of ideal persons to manage weight after personal trainer Conclusion Patients do not have confidence in their GPs for weight management, preferring other health

General practice integration in Australia. Primary health services provider and consumer perceptions of barriers and solutions.

Science.gov (United States)

Appleby, N J; Dunt, D; Southern, D M; Young, D

1999-08-01

To identify practical examples of barriers and possible solutions to improve general practice integration with other health service providers. Twelve focus groups, including one conducted by teleconference, were held across Australia with GPs and non GP primary health service providers between May and September, 1996. Focus groups were embedded within concept mapping sessions, which were used to conceptually explore the meaning of integration in general practice. Data coding, organising and analysis were based on the techniques documented by Huberman and Miles. Barriers to integration were perceived to be principally due to the role and territory disputes between the different levels of government and their services, the manner in which the GP's role is currently defined, and the system of GP remuneration. Suggestions on ways to improve integration involved two types of strategies. The first involves initiatives implemented 'top down' through major government reform to service structures, including the expansion of the role of divisions of general practice, and structural changes to the GP remuneration systems. The second type of strategy suggested involves initiatives implemented from the 'bottom up' involving services such as hospitals (e.g. additional GP liaison positions) and the use of information technology to link services and share appropriate patient data. The findings support the need for further research and evaluation of initiatives aimed at achieving general practice integration at a systems level. There is little evidence to suggest which types of initiatives improve integration. However, general practice has been placed in the centre of the health care debate and is likely to remain central to the success of such initiatives. Clarification of the future role and authority of general practice will therefore be required if such integrative strategies are to be successful at a wider health system level.

Management of dental trauma in primary care: a postal survey of general dental practitioners.

Science.gov (United States)

Jackson, N G; Waterhouse, P J; Maguire, A

2005-03-12

To determine the self-perceived knowledge and attitudes of general dental practitioners (GDPs) concerning management of dental trauma in primary care. To identify potential barriers to the management of dental trauma in primary care. A self-completion postal questionnaire survey of 417 GDPs in six local health authority districts in northeast England. Likert scale responses to 20 statements designed to test self-perceived knowledge and attitudes. Following descriptive statistical analysis. Factor analysis with principle components analysis was undertaken to identify areas of correlation in questionnaire responses, followed by Chi squared test, Spearman's Rank Correlation and analysis of variance (ANOVA) to measure association between variables. The response rate was 74%. Enamel and dentine fractures were the most common injury, with 45% of GDPs responding seeing more than 10 cases of dental trauma in the preceding year and 53% of respondents seeing one to three cases of complicated crown fracture. Seventy-eight per cent believed that NHS remuneration was inadequate, but only 8% would refer patients with dental trauma to secondary care for this reason. Half of the GDPs believed that trauma could be treated more effectively in practice if NHS payments were greater. GDPs were significantly more likely to agree with this statement if they had previously undertaken a postgraduate course in the treatment of dental trauma (p=0.002). Single handed GDPs were statistically significantly more likely to agree with the statements 'I would not treat dental trauma cases at my practice because the NHS payment is inadequate' (p=0.008) and 'Treating dental trauma at my practice requires too much of my clinical time to be worthwhile' (p=0.002). Ninety-six per cent of GDPs disagreed that treatment of dental trauma rested solely within secondary care. Ninety-six per cent of GDPs agreed that they had a responsibility to provide initial emergency treatment for trauma patients prior to

Optimising value and quality in general practice within the primary health care sector through relationship marketing: a conceptual framework.

Science.gov (United States)

Bansal, Manjit K

2004-01-01

Discusses the rationale of applying relationship marketing and service quality concepts within the primary health care sector. The use of relational strategies in general practice, by modelling the relationships between practitioners and patients from a marketing perspective, could potentially lead to sustained high quality service being provided, and to more efficient use of resources. This essentially conceptually focused paper addresses an area that has not yet been researched in detail, and furthers understanding of the relationships that facilitate exchange within general practice and service delivery in non-profit, resource-constrained conditions. Deeper understanding of the needs and expectations of patients and the way these can be delivered by general practice can only lead to improvements for all parties involved. The relationship marketing paradigm presents itself as a potentially exciting way of addressing issues associated with ensuring that the highest level of quality is delivered in this area of the UK National Health Service.

General toxic effects of shale tars on the human body

Energy Technology Data Exchange (ETDEWEB)

Kahn, H; Sillam, A

1972-01-01

Of 115 workers in close contact with oil shale tars, 80 percent complained of headache, fatigue, and stomach aches. Vegetative dystonia, asthenovegetative, or asthenic syndromes were diagnosed in 32 percent of the cases. An excessive excretion of free phenols was found in the urine of 13 percent of the patients and an excess of sulfates and coproporphyrin in 27 and 29 percent, respectively. The statistical analysis of clinical data indicates a relation to biochemical changes. The immunological reactivity studies showed that in 60 percent of the cases the immunological resistance decreased markedly.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Directory of Open Access Journals (Sweden)

Celia Zazo Seco

2017-02-01

Full Text Available 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 nonsense mutation, c.4G>T (p.Glu2*, in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

Defining Dystonic Tremor

OpenAIRE

Elble, Rodger J

2013-01-01

A strong association between dystonia and tremor has been known for more than a century. Two forms of tremor in dystonia are currently recognized: 1) dystonic tremor, which is tremor produced by dystonic muscle contraction and 2) tremor associated with dystonia, which is tremor in a body part that is not dystonic, but there is dystonia elsewhere. Both forms of tremor in dystonia frequently resemble essential tremor or another pure tremor syndrome (e.g., isolated head and voice tremors and tas...

Oromandibular Dystonia—Meige′s Syndrome: Report of a Rare Case with Review

Directory of Open Access Journals (Sweden)

Siddharth Gupta

2010-01-01

Full Text Available Meige′s syndrome is a combination of two forma of dystonia; blepharospasm and oromandibular dystonia (OMD. Oromandibular dystonia (OMD is a form of focal dystonia affecting head and neck region, including the lower face, jaw, tongue and larynx. It may be a factor contributing to muscle stiffness, degenerative changes in temporomandibular joint, mucosal lesions, damage to teeth, and dental prosthesis. We take this opportunity to present a patient with oromandibular dystonia associated with blepharospasm and spasmodic dysphonia.

The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.

Science.gov (United States)

Einholm, Anja Pernille; Toustrup-Jensen, Mads S; Holm, Rikke; Andersen, Jens Peter; Vilsen, Bente

2010-08-20

Rapid-onset dystonia parkinsonism (RDP), a rare neurological disorder, is caused by mutation of the neuron-specific alpha3-isoform of Na(+), K(+)-ATPase. Here, we present the functional consequences of RDP mutation D923N. Relative to the wild type, the mutant exhibits a remarkable approximately 200-fold reduction of Na(+) affinity for activation of phosphorylation from ATP, reflecting a defective interaction of the E(1) form with intracellular Na(+). This is the largest effect on Na(+) affinity reported so far for any Na(+), K(+)-ATPase mutant. D923N also affects the interaction with extracellular Na(+) normally driving the E(1)P to E(2)P conformational transition backward. However, no impairment of K(+) binding was observed for D923N, leading to the conclusion that Asp(923) is specifically associated with the third Na(+) site that is selective toward Na(+). The crystal structure of the Na(+), K(+)-ATPase in E(2) form shows that Asp(923) is located in the cytoplasmic half of transmembrane helix M8 inside a putative transport channel, which is lined by residues from the transmembrane helices M5, M7, M8, and M10 and capped by the C terminus, recently found involved in recognition of the third Na(+) ion. Structural modeling of the E(1) form of Na(+), K(+)-ATPase based on the Ca(2+)-ATPase crystal structure is consistent with the hypothesis that Asp(923) contributes to a site binding the third Na(+) ion. These results in conjunction with our previous findings with other RDP mutants suggest that a selective defect in the handling of Na(+) may be a general feature of the RDP disorder.

Teamwork in primary care: perspectives of general practitioners and community nurses in Lithuania

Science.gov (United States)

2013-01-01

Background A team approach in primary care has proven benefits in achieving better outcomes, reducing health care costs, satisfying patient needs, ensuring continuity of care, increasing job satisfaction among health providers and using human health care resources more efficiently. However, some research indicates constraints in collaboration within primary health care (PHC) teams in Lithuania. The aim of this study was to gain a better understanding of the phenomenon of teamwork in Lithuania by exploring the experiences of teamwork by general practitioners (GPs) and community nurses (CNs) involved in PHC. Methods Six focus groups were formed with 29 GPs and 27 CNs from the Kaunas Region of Lithuania. Discussions were recorded and transcribed verbatim. A thematic analysis of these data was then performed. Results The analysis of focus group data identified six thematic categories related to teamwork in PHC: the structure of a PHC team, synergy among PHC team members, descriptions of roles and responsibilities of team members, competencies of PHC team members, communications between PHC team members and the organisational background for teamwork. These findings provide the basis for a discussion of a thematic model of teamwork that embraces formal, individual and organisational factors. Conclusions The need for effective teamwork in PHC is an issue receiving broad consensus; however, the process of teambuilding is often taken for granted in the PHC sector in Lithuania. This study suggests that both formal and individual behavioural factors should be targeted when aiming to strengthen PHC teams. Furthermore, this study underscores the need to provide explicit formal descriptions of the roles and responsibilities of PHC team members in Lithuania, which would include establishing clear professional boundaries. The training of team members is an essential component of the teambuilding process, but not sufficient by itself. PMID:23945286

Primary Hyperparathyroidism: An Overview

Directory of Open Access Journals (Sweden)

Jessica MacKenzie-Feder

2011-01-01

Full Text Available Primary hyperparathyroidism is a common condition that affects 0.3% of the general population. Primary and tertiary care specialists can encounter patients with primary hyperparathyroidism, and prompt recognition and treatment can greatly reduce morbidity and mortality from this disease. In this paper we will review the basic physiology of calcium homeostasis and then consider genetic associations as well as common etiologies and presentations of primary hyperparathyroidism. We will consider emerging trends in detection and measurement of parathyroid hormone as well as available imaging modalities for the parathyroid glands. Surgical indications and approach will be reviewed as well as medical management of primary hyperparathyroidism with bisphosphonates and calcimimetics.

Low Back Pain in Primary Care

DEFF Research Database (Denmark)

Hestbæk, Lise; Munck, Anders; Hartvigsen, Lisbeth

2014-01-01

Study Design. Baseline description of a multicenter cohort study. Objective. To describe patients with low back pain (LBP) in both chiropractic and general practice in Denmark. Background. To optimize standards of care in the primary healthcare sector, detailed knowledge of the patient populations...... in different settings is needed. In Denmark, most LBP-patients access primary healthcare through chiropractic or general practice. Methods. Chiropractors and general practitioners recruited adult patients seeking care for LBP. Extensive baseline questionnaires were obtained and descriptive analyses presented...... of five patients had had previous episodes, one-fourth were on sick leave, and the LBP considerably limited daily activities. The general practice patients were slightly older and less educated, more often females, and generally worse on all disease-related parameters than chiropractic patients. All...

Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a {sup 123}I-FP-CIT SPECT study

Energy Technology Data Exchange (ETDEWEB)

Di Giuda, Daniela; Cocciolillo, Fabrizio; Bruno, Isabella; Giordano, Alessandro [Universita Cattolica del Sacro Cuore, Istituto di Medicina Nucleare, Rome (Italy); Camardese, Giovanni; Pucci, Lorella; Janiri, Luigi [Universita Cattolica del Sacro Cuore, Istituto di Psichiatria e Psicologia, Rome (Italy); Bentivoglio, Anna Rita; Guidubaldi, Arianna [Universita Cattolica del Sacro Cuore, Istituto di Neurologia, Rome (Italy); Fasano, Alfonso [Universita Cattolica del Sacro Cuore, Istituto di Neurologia, Rome (Italy); AFaR-Associazione Fatebenefratelli per la Ricerca, Rome (Italy)

2012-12-15

Psychiatric symptoms frequently occur in patients with movement disorders. They are not a mere reaction to chronic disability, but most likely due to a combination of psychosocial factors and biochemical dysfunction underlying the movement disorder. We assessed dopamine transporter (DAT) availability by means of {sup 123}I-FP-CIT SPECT, and motor and psychiatric features in patients with Parkinson's disease, primary dystonia and essential tremor, exploring the association between SPECT findings and symptom severity. Enrolled in the study were 21 patients with Parkinson's disease, 14 patients with primary dystonia and 15 patients with essential tremor. The severity of depression symptoms was assessed using the Hamilton depression rating scale, anxiety levels using the Hamilton anxiety rating scale and hedonic tone impairment using the Snaith-Hamilton pleasure scale. Specific {sup 123}I-FP-CIT binding in the caudate and putamen was calculated based on ROI analysis. The control group included 17 healthy subjects. As expected, DAT availability was significantly decreased in patients with Parkinson's disease, whereas in essential tremor and dystonia patients it did not differ from that observed in the control group. In Parkinson's disease patients, an inverse correlation between severity of depression symptoms and DAT availability in the left caudate was found (r = -0.63, p = 0.002). In essential tremor patients, levels of anxiety symptoms were inversely correlated with DAT availability in the left caudate (r = -0.69, p = 0.004). In dystonia patients, the severities of both anxiety and depression symptoms were inversely associated with DAT availability in the left putamen (r = -0.71, p = 0.004, and r = -0.75, p = 0.002, respectively). There were no correlations between psychometric scores and {sup 123}I-FP-CIT uptake ratios in healthy subjects. We found association between presynaptic dopaminergic function and affective symptoms in different movement

Dopaminergic dysfunction and psychiatric symptoms in movement disorders: a 123I-FP-CIT SPECT study

International Nuclear Information System (INIS)

Di Giuda, Daniela; Cocciolillo, Fabrizio; Bruno, Isabella; Giordano, Alessandro; Camardese, Giovanni; Pucci, Lorella; Janiri, Luigi; Bentivoglio, Anna Rita; Guidubaldi, Arianna; Fasano, Alfonso

2012-01-01

Psychiatric symptoms frequently occur in patients with movement disorders. They are not a mere reaction to chronic disability, but most likely due to a combination of psychosocial factors and biochemical dysfunction underlying the movement disorder. We assessed dopamine transporter (DAT) availability by means of 123 I-FP-CIT SPECT, and motor and psychiatric features in patients with Parkinson's disease, primary dystonia and essential tremor, exploring the association between SPECT findings and symptom severity. Enrolled in the study were 21 patients with Parkinson's disease, 14 patients with primary dystonia and 15 patients with essential tremor. The severity of depression symptoms was assessed using the Hamilton depression rating scale, anxiety levels using the Hamilton anxiety rating scale and hedonic tone impairment using the Snaith-Hamilton pleasure scale. Specific 123 I-FP-CIT binding in the caudate and putamen was calculated based on ROI analysis. The control group included 17 healthy subjects. As expected, DAT availability was significantly decreased in patients with Parkinson's disease, whereas in essential tremor and dystonia patients it did not differ from that observed in the control group. In Parkinson's disease patients, an inverse correlation between severity of depression symptoms and DAT availability in the left caudate was found (r = -0.63, p = 0.002). In essential tremor patients, levels of anxiety symptoms were inversely correlated with DAT availability in the left caudate (r = -0.69, p = 0.004). In dystonia patients, the severities of both anxiety and depression symptoms were inversely associated with DAT availability in the left putamen (r = -0.71, p = 0.004, and r = -0.75, p = 0.002, respectively). There were no correlations between psychometric scores and 123 I-FP-CIT uptake ratios in healthy subjects. We found association between presynaptic dopaminergic function and affective symptoms in different movement disorders. Interestingly, the

Factors influencing decision of general practitioners and managers to train and employ a nurse practitioner or physician assistant in primary care: a qualitative study.

Science.gov (United States)

van der Biezen, Mieke; Derckx, Emmy; Wensing, Michel; Laurant, Miranda

2017-02-07

Due to the increasing demand on primary care, it is not only debated whether there are enough general practitioners (GPs) to comply with these demands but also whether specific tasks can be performed by other care providers. Although changing the workforce skill mix care by employing Physician Assistants (PAs) and Nurse Practitioners (NPs) has proven to be both effective and safe, the implementation of those professionals differs widely between and within countries. To support policy making regarding PAs/NPs in primary care, the aim of this study is to provide insight into factors influencing the decision of GPs and managers to train and employ a PA/NP within their organisation. A qualitative study was conducted in 2014 in which 7 managers of out-of-hours primary care services and 32 GPs who owned a general practice were interviewed. Three main topic areas were covered in the interviews: the decision-making process in the organisation, considerations and arguments to train and employ a PA/NP, and the tasks and responsibilities of a PA/NP. Employment of PAs/NPs in out-of-hours services was intended to substitute care for minor ailments in order to decrease GPs' caseload or to increase service capacity. Mangers formulated long-term planning and role definitions when changing workforce skill mix. Lastly, out-of-hours services experienced difficulties with creating team support among their members regarding the employment of PAs/NPs. In general practices during office hours, GPs indented both substitution and supplementation for minor ailments and/or target populations through changing the skill mix. Supplementation was aimed at improving quality of care and extending the range of services to patients. The decision-making in general practices was accompanied with little planning and role definition. The willingness to employ PAs/NPs was highly influenced by an employees' motivation to start the master's programme and GPs' prior experience with PAs/NPs. Knowledge about

Consideration of genetic contributions to the risk for spasmodic dysphonia.

Science.gov (United States)

Sharma, Nutan; Franco, Ramon A

2011-09-01

Spasmodic dysphonia, a form of the neurologic condition known as dystonia, results from involuntary spasms of the larynx, producing interruptions of speech and changes in voice quality. The pathogenesis of spasmodic dysphonia is not well understood. However, several genetic mutations have been identified that cause different forms of dystonia. In some individuals, these genetic mutations result in spasmodic dysphonia, either with no other signs of dystonia or as part of a broader dystonia phenotype. Thus, research in the growing field of dystonia genetics may help to inform our understanding of the pathogenesis of spasmodic dysphonia.

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.

Adjunctive levetiracetam in children, adolescents, and adults with primary generalized seizures: Open-label, noncomparative, multicenter, long-term follow-up study.

LENUS (Irish Health Repository)

Delanty, Norman

2012-02-01

Purpose: To evaluate the long-term efficacy and tolerability of adjunctive levetiracetam (LEV) in patients with uncontrolled idiopathic generalized epilepsy (IGE). Methods: This phase III, open-label, long-term, follow-up study (N167; NCT00150748) enrolled patients (4 to <65 years) with primary generalized seizures (tonic-clonic, myoclonic, absence). Patients received adjunctive LEV at individualized doses (1,000-4,000 mg\\/day; 20-80 mg\\/kg\\/day for children\\/adolescents weighing <50 kg). Efficacy results are reported for all seizure types [intention-to-treat (ITT) population, N = 217] and subpopulations with tonic-clonic (n = 152), myoclonic (n = 121), and\\/or absence (n = 70) seizures at baseline. Key Findings: One hundred twenty-five (57.6%) of 217 patients were still receiving treatment at the end of the study. Mean (standard deviation, SD) LEV dose was 2,917.5 (562.9) mg\\/day. Median (Q1-Q3) exposure to LEV was 2.1 (1.5-2.8) years, and the maximum duration was 4.6 years. Most patients were taking one (124\\/217, 57.1%) or >\\/=2 (92\\/217, 42.4%) concomitant antiepileptic drugs (AEDs). Seizure freedom of >\\/=6 months (all seizure types; primary efficacy end point) was achieved by 122 (56.2%) of 217 patients, and 49 (22.6%) of 217 patients had complete seizure freedom. Seizure freedom of >\\/=6 months from tonic-clonic, myoclonic, and absence seizures was achieved by 95 (62.5%) of 152, 75 (62.0%) of 121, and 44 (62.9%) of 70 patients, respectively. Mean (SD) maximum seizure freedom duration was 371.7 (352.4) days. At least one treatment-emergent adverse event (TEAE) was reported by 165 (76%) of 217 patients; most TEAEs were mild\\/moderate in severity, with no indication of an increased incidence over time. Seventeen (7.8%) of 217 patients discontinued medication because of TEAEs. The most common psychiatric TEAEs were depression (16\\/217, 7.4%), insomnia (9\\/217, 4.1%), nervousness (8\\/217, 3.7%), and anxiety (7\\/217, 3.2%). Significance: Adjunctive

Using information and communication technologies to consult with patients in Victorian primary care: the views of general practitioners.

Science.gov (United States)

Hanna, Lisa; Fairhurst, Karen

2013-01-01

Information and communication technologies such as email, text messaging and video messaging are commonly used by the general population. However, international research has shown that they are not used routinely by GPs to communicate or consult with patients. Investigating Victorian GPs' perceptions of doing so is timely given Australia's new National Broadband Network, which may facilitate web-based modes of doctor-patient interaction. This study therefore aimed to explore Victorian GPs' experiences of, and attitudes toward, using information and communication technologies to consult with patients. Qualitative telephone interviews were carried out with a maximum variation sample of 36GPs from across Victoria. GPs reported a range of perspectives on using new consultation technologies within their practice. Common concerns included medico-legal and remuneration issues and perceived patient information technology literacy. Policy makers should incorporate GPs' perspectives into primary care service delivery planning to promote the effective use of information and communication technologies in improving accessibility and quality of general practice care.

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia

Science.gov (United States)

Battistella, Giovanni; Fuertinger, Stefan; Fleysher, Lazar; Ozelius, Laurie J.; Simonyan, Kristina

2017-01-01

Background Spasmodic dysphonia (SD), or laryngeal dystonia, is a task-specific isolated focal dystonia of unknown causes and pathophysiology. Although functional and structural abnormalities have been described in this disorder, the influence of its different clinical phenotypes and genotypes remains scant, making it difficult to explain SD pathophysiology and to identify potential biomarkers. Methods We used a combination of independent component analysis and linear discriminant analysis of resting-state functional MRI data to investigate brain organization in different SD phenotypes (abductor vs. adductor type) and putative genotypes (familial vs. sporadic cases) and to characterize neural markers for genotype/phenotype categorization. Results We found abnormal functional connectivity within sensorimotor and frontoparietal networks in SD patients compared to healthy individuals as well as phenotype- and genotype-distinct alterations of these networks, involving primary somatosensory, premotor and parietal cortices. The linear discriminant analysis achieved 71% accuracy classifying SD and healthy individuals using connectivity measures in the left inferior parietal and sensorimotor cortex. When categorizing between different forms of SD, the combination of measures from left inferior parietal, premotor and right sensorimotor cortices achieved 81% discriminatory power between familial and sporadic SD cases, whereas the combination of measures from the right superior parietal, primary somatosensory and premotor cortices led to 71% accuracy in the classification of adductor and abductor SD forms. Conclusions Our findings present the first effort to identify and categorize isolated focal dystonia based on its brain functional connectivity profile, which may have a potential impact on the future development of biomarkers for this rare disorder. PMID:27346568

Cortical sensorimotor alterations classify clinical phenotype and putative genotype of spasmodic dysphonia.

Science.gov (United States)

Battistella, G; Fuertinger, S; Fleysher, L; Ozelius, L J; Simonyan, K

2016-10-01

Spasmodic dysphonia (SD), or laryngeal dystonia, is a task-specific isolated focal dystonia of unknown causes and pathophysiology. Although functional and structural abnormalities have been described in this disorder, the influence of its different clinical phenotypes and genotypes remains scant, making it difficult to explain SD pathophysiology and to identify potential biomarkers. We used a combination of independent component analysis and linear discriminant analysis of resting-state functional magnetic resonance imaging data to investigate brain organization in different SD phenotypes (abductor versus adductor type) and putative genotypes (familial versus sporadic cases) and to characterize neural markers for genotype/phenotype categorization. We found abnormal functional connectivity within sensorimotor and frontoparietal networks in patients with SD compared with healthy individuals as well as phenotype- and genotype-distinct alterations of these networks, involving primary somatosensory, premotor and parietal cortices. The linear discriminant analysis achieved 71% accuracy classifying SD and healthy individuals using connectivity measures in the left inferior parietal and sensorimotor cortices. When categorizing between different forms of SD, the combination of measures from the left inferior parietal, premotor and right sensorimotor cortices achieved 81% discriminatory power between familial and sporadic SD cases, whereas the combination of measures from the right superior parietal, primary somatosensory and premotor cortices led to 71% accuracy in the classification of adductor and abductor SD forms. Our findings present the first effort to identify and categorize isolated focal dystonia based on its brain functional connectivity profile, which may have a potential impact on the future development of biomarkers for this rare disorder. © 2016 EAN.

[The new postgraduate training program in general internal medicine: implications for the primary care physician].

Science.gov (United States)

Monti, Matteo; Gachoud, David

2010-11-03

The Swiss postgraduate training program in general internal medicine is now designed as a competency-based curriculum. In other words, by the end of their training, the residents should demonstrate a set of predefined competences. Many of those competences have to be learnt in outpatient settings. Thus, the primary care physicians have more than ever an important role to play in educating tomorrows doctors. A competency-based model of training requires a regular assessment of the residents. The mini-CEX (mini-Clinical Evaluation eXercise) is the assessment tool proposed by the Swiss institute for postgraduate and continuing education. The mini-CEX is based on the direct observation of the trainees performing a specific task, as well as on the ensuing feedback. This article aims at introducing our colleagues in charge of residents to the mini-CEX, which is a useful tool promoting the culture of feedback in medical education.

General Information About Ovarian, Fallopian Tube, and Primary Peritoneal Cancer

Science.gov (United States)

... black women, but have decreased in both groups. Women who have a family history of ovarian cancer and/or certain inherited gene ... ovarian, fallopian tube, and primary peritoneal cancer: Personal history of breast cancer A woman who has had breast cancer has an increased ...

Moving forward: advances in the treatment of movement disorders with deep brain stimulation

Directory of Open Access Journals (Sweden)

Terry K Schiefer

2011-11-01

Full Text Available The modern era of stereotactic and functional neurosurgery has ushered in state of the art technologies for the treatment of movement disorders, particularly Parkinson’s disease (PD, tremor, and dystonia. After years of experience with various surgical therapies, the eventual shortcomings of both medical and surgical treatments, and several serendipitous discoveries, deep brain stimulation (DBS has risen to the forefront as a highly effective, safe, and reversible treatment for these conditions. Idiopathic advanced Parkinson’s disease can be treated with thalamic, globus pallidus internus (GPi, or subthalamic nucleus (STN DBS. Thalamic DBS primarily relieves tremor while GPi and STN DBS alleviate a wide range of Parkinsonian symptoms. Thalamic DBS is also used in the treatment of other types of tremor, particularly essential tremor, with excellent results. Both primary and various types of secondary dystonia can be treated very effectively with GPi DBS. The variety of anatomical targets for these movement disorders is indicative of the network-level dysfunction mediating these movement disturbances. Despite an increasing understanding of the clinical benefits of DBS, little is known about how DBS can create such wide sweeping neuromodulatory effects. The key to improving this therapeutic modality and discovering new ways to treat these and other neurologic conditions lies in better understanding the intricacies of DBS. Here we review the history and pertinent clinical data for DBS treatment of PD, tremor, and dystonia. Our search criteria for PubMed included combinations of the following terms: DBS, neuromodulation, movement disorders, PD, tremor, dystonia, and history. Dates were not restricted.

What's the effect of the implementation of general practitioner cooperatives on caseload? Prospective intervention study on primary and secondary care.

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Philips, Hilde; Remmen, Roy; Van Royen, Paul; Teblick, Marc; Geudens, Leo; Bronckaers, Marc; Meeuwis, Herman

2010-07-30

Out-of-hours care in the primary care setting is rapidly changing and evolving towards general practitioner 'cooperatives' (GPC). GPCs already exist in the Netherlands, the United Kingdom and Scandinavia, all countries with strong general practice, including gatekeepers' role. This intervention study reports the use and caseload of out-of-hours care before and after implementation of a GPC in a well subscribed region in a country with an open access health care system and no gatekeepers' role for general practice. We used a prospective before/after interventional study design. The intervention was the implementation of a GPC. One year after the implementation of a GPC, the number of patient contacts in the intervention region significantly increased at the GPC (OR: 1.645; 95% CI: 1.439-1.880), while there were no significant changes in patient contacts at the Emergency Department (ED) or in other regions where a simultaneous registration was performed. Although home visits decreased in all general practitioner registrations, the difference was more pronounced in the intervention region (intervention region: OR: 0.515; 95% CI: 0.411-0.646, other regions: OR: 0.743; 95% CI: 0.608-0.908). At the ED we observed a decrease in the number of trauma cases (OR: 0.789; 95% CI: 0.648-0.960) and of patients who came to hospital by ambulance (OR: 0.687; 95% CI: 0.565-0.836). One year after its implementation more people seek help at the GPC, while the number of contacts at the ED remains the same. The most prominent changes in caseload are found in the trauma cases. Establishing a GPC in an open health care system, might redirect some patients with particular medical problems to primary care. This could lead to a lowering of costs or a more cost-effective out of hours care, but further research should focus on effective usage to divert patient flows and on quality and outcome of care.

Views of general practitioners on the use of STOPP&START in primary care: a qualitative study.

Science.gov (United States)

Dalleur, O; Feron, J-M; Spinewine, A

2014-08-01

STOPP (Screening Tool of Older Person's Prescriptions) and START (Screening Tool to Alert Doctors to Right Treatment) criteria aim at detecting potentially inappropriate prescribing in older people. The objective was to explore general practitioners' (GPs) perceptions regarding the use of the STOPP&START tool in their practice. We conducted three focus groups which were conveniently sampled. Vignettes with clinical cases were provided for discussion as well as a full version of the STOPP&START tool. Knowledge, strengths and weaknesses of the tool and its implementation were discussed. Two researchers independently performed content analysis, classifying quotes and creating new categories for emerging themes. Discussions highlighted incentives (e.g. systematic procedure for medication review) and barriers (e.g. time-consuming application) influencing the use of STOPP&START in primary care. Usefulness, comprehensiveness, and relevance of the tool were also questioned. Another important category emerging from the content analysis was the projected use of the tool. The GPs imagined key elements for the implementation in daily practice: computerized clinical decision support system, education, and multidisciplinary collaborations, especially at care transitions and in nursing homes. Despite variables views on the usefulness, comprehensiveness, and relevance of STOPP&START, GPs suggest the implementation of this tool in primary care within computerized clinical decision support systems, through education, and used as part of multidisciplinary collaborations.

Non-Hodgkin's lymphoma - Part II: Management of primary extranodal lymphomas, generalized disease and salvage treatment

International Nuclear Information System (INIS)

Gospodarowicz, Mary K.; Sutcliffe, Simon B.

1996-01-01

Objective: To review the approach to the diagnosis, classification, assessment, treatment and continuing management of patients with primary extranodal non-Hodgkin's lymphoma, and the management of generalized disease with the emphasis on the current role of salvage treatment with high dose chemotherapy and stem cell/bone marrow support strategies. Non-Hodgkin's lymphoma may involve any part of the body. Many lymphomas, such as MALT, angiocentric T-cell, etc., commonly present in extranodal sites. Lymphomas presenting in the GI tract, and head and neck, are most common with the single most common site being the stomach. Gastric lymphoma is associated with Helicobacter pylorii and is most common in areas endemic for Helicobacter pylorii infection. Recent advances in the understanding of the etiology of gastric MALT, thyroid, and intestinal lymphomas present new opportunities for the application of novel therapeutic approaches e.g. antibiotic therapy for Helicobacter pylori and early stage IPSID. Lymphomas presenting in the orbit, thyroid, breast, bone, extradural and skin are of interest because of the importance of expert RT in securing local control. Primary brain lymphomas present a particular challenge to the radiation oncologist. Although localized, primary brain lymphomas are extremely difficult to control. Rare sites of extranodal lymphoma include testis, female genital tract, and lung. Extranodal lymphomas are often localized and cure with RT or CMT is possible. They represent a assorted group of diseases with diverse presentations, prognosis, sensitivity to RT and expected outcome. They are of particular importance to radiation oncologists as they require special attention to patterns of spread and treatment planning. The principles of management of primary extranodal lymphoma, however, follow those applicable to localized nodal presentations. Although primary extranodal lymphomas are highly curable, a proportion of patients will fail with disseminated

[Scenes in movement. Movement disorders on film].

Science.gov (United States)

Olivares Romero, J

2010-03-01

There are publications in which various neurological diseases are analysed on film. However, no references have been found on movement disorders in this medium. A total of 104 documents were collected and reviewed using the internet movie data base (IMDb). The majority were associated with dystonia, Parkinson's and tics, were American commercial productions, and the most common genre was drama. The cinema usually depicts old men with developed Parkinson's disease. However, motor complications only appear in 19% and non-motor symptoms in 14%. The image of dystonia is generally that of a young man, with disabling dystonia secondary to childhood cerebral palsy. Tics appear associated with Tourette's syndrome, with the excessive use of obscene expressions and with very few references to other important aspects of this syndrome, such as mood and behavioural changes. The majority of tremors portrayed on film are associated with Parkinsonism and are not pathological. Myoclonus appears anecdotically and is normally symptomatic. Parkinson's disease is the type of movement disorder that the cinema portrays with greater neurological honesty and in a more dignified manner.

Treatment of cervical dystonia with botulinum toxin in a patient with myasthenia gravis Tratamento de distonia cervical com toxina botulínica em uma paciente com miastenia gravis

Directory of Open Access Journals (Sweden)

MARCIA RUBIA R. GONÇALVES

1999-09-01

Full Text Available We report the case of a 49-year-old woman who has the rare combination of myasthenia gravis and cervical dystonia. She was treated with botulinum toxin type A with good response and no evidence of deterioration of the myasthenic symptoms. We therefore conclude that it is possible to use botulinum toxin in the presence of defective neuromuscular transmission.Relatamos o caso de uma mulher de 49 anos com rara combinação de miastenia gravis e distonia cervical tratada com toxina botulínica tipo A, apresentando boa resposta e nenhuma evidência de piora do quadro miastênico. A partir dessas observações concluimos que é possível o uso de toxina botulínica na presença de doença da transmissão neuromuscular.

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

Directory of Open Access Journals (Sweden)

Naoto Ito

2016-04-01

Full Text Available X-linked dystonia-parkinsonism (XDP is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models available for studying the disease. The XDP haplotype consists of multiple sequence variations in a region of the X chromosome containing TAF1, a large gene with at least 38 exons, and a multiple transcript system (MTS composed of five unconventional exons. A previous study identified an XDP-specific insertion of a SINE-VNTR-Alu (SVA-type retrotransposon in intron 32 of TAF1, as well as a neural-specific TAF1 isoform, N-TAF1, which showed decreased expression in post-mortem XDP brain compared with control tissue. Here, we generated XDP patient and control fibroblasts and induced pluripotent stem cells (iPSCs in order to further probe cellular defects associated with this disease. As initial validation of the model, we compared expression of TAF1 and MTS transcripts in XDP versus control fibroblasts and iPSC-derived neural stem cells (NSCs. Compared with control cells, XDP fibroblasts exhibited decreased expression of TAF1 transcript fragments derived from exons 32-36, a region spanning the SVA insertion site. N-TAF1, which incorporates an alternative exon (exon 34′, was not expressed in fibroblasts, but was detectable in iPSC-differentiated NSCs at levels that were ∼threefold lower in XDP cells than in controls. These results support the previous findings that N-TAF1 expression is impaired in XDP, but additionally indicate that this aberrant transcription might occur in neural cells at relatively early stages of development that precede neurodegeneration.

An unavoidable modulation? Sensory attention and human primary motor cortex excitability.

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Ruge, Diane; Muggleton, Neil; Hoad, Damon; Caronni, Antonio; Rothwell, John C

2014-09-01

The link between basic physiology and its modulation by cognitive states, such as attention, is poorly understood. A significant association becomes apparent when patients with movement disorders describe experiences with changing their attention focus and the fundamental effect that this has on their motor symptoms. Moreover, frequently used mental strategies for treating such patients, e.g. with task-specific dystonia, widely lack laboratory-based knowledge about physiological mechanisms. In this largely unexplored field, we looked at how the locus of attention, when it changed between internal (locus hand) and external (visual target), influenced excitability in the primary motor cortex (M1) in healthy humans. Intriguingly, both internal and external attention had the capacity to change M1 excitability. Both led to a reduced stimulation-induced GABA-related inhibition and a change in motor evoked potential size, i.e. an overall increased M1 excitability. These previously unreported findings indicated: (i) that cognitive state differentially interacted with M1 physiology, (ii) that our view of distraction (attention locus shifted towards external or distant location), which is used as a prevention or management strategy for use-dependent motor disorders, is too simple and currently unsupported for clinical application, and (iii) the physiological state reached through attention modulation represents an alternative explanation for frequently reported electrophysiology findings in neuropsychiatric disorders, such as an aberrant inhibition. © 2014 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

Gambling addiction in primary care: a survey of general practitioners ...

African Journals Online (AJOL)

We set out to study GPs' understanding of gambling addiction, their experiences of, and confidence in, managing these patients in primary care, their perceived role and feasibility, their views on funding gambling treatment services, etc. To this end, we carried out a postal questionnaire survey of all GPs (N=136) in Solihull, ...

Bilateral primary spontaneous pneumothoraces postcaesarean section – another reason to avoid general anaesthesia in pregnancy

Science.gov (United States)

Aye, Christina Yi Ling; McKean, David; Dark, Allan; Akinsola, S Adeyemi

2012-01-01

A 36-year-old, healthy, primiparous female underwent a caesarean section under general anaesthetic. She had previously had a severe reaction to dye during a myelogram and therefore, had declined epidural analgesia or regional anaesthesia. Induction and maintenance of anaesthesia was uneventful, but on emergence, and before tracheal extubation, the patient coughed on the endotracheal tube and almost immediately developed right-sided subcutaneous emphysema of the face and neck. At this point her oxygen saturation began to fall and she was noted to be difficult to ventilate. Clinically and radiologically, she had a right-sided pneumothorax which was treated immediately with intercostal drain insertion. She went on to develop a left pneumothorax which also required intercostal drain insertion. She made an uneventful recovery and was discharged 8 days later. A subsequent CT scan of her chest revealed no pre-existing primary pulmonary pathology that would have accounted for the pneumothoraces. PMID:22927264

Primary stabbing headache.

Science.gov (United States)

Pareja, Juan A; Sjaastad, Ottar

2010-01-01

Primary stabbing headache is characterized by transient, cephalic ultrashort stabs of pain. It is a frequent complaint with a prevalence of 35.2%, a female preponderance, and a mean age of onset of 28 years (Vågå study). Attacks are generally characterized by moderate to severe, jabbing or stabbing pain, lasting from a fraction of a second to 3s. Attack frequency is generally low, with one or a few attacks per day. The paroxysms generally occur spontaneously, during daytime. Most patients exhibit a sporadic pattern, with an erratic, unpredictable alternation between symptomatic and non-symptomatic periods. Paroxysms are almost invariably unilateral. Temporal and fronto-ocular areas are most frequently affected. Attacks tend to move from one area to another, in either the same or the opposite hemicranium. Jabs may be accompanied by a shock-like feeling and even by head movement - "jolts" -or vocalization. On rare occasions, conjunctival hemorrhage and monocular vision loss have been described as associated features. Primary stabbing headache may concur, synchronously or independently, with other primary headaches. In contrast to what is the case in adults, in childhood it is not usually associated with other headaches. Treatment is rarely necessary. Indomethacin, 75-150 mg daily, may seem to be of some avail. Celecoxib, nifedipine, melatonin, and gabapentin have been reported to be effective in isolated cases and small series of patients. The drug studies need corroboration. Copyright © 2011 Elsevier B.V. All rights reserved.

Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, Associated with Familial Rapid-Onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms

DEFF Research Database (Denmark)

Schack, Vivien Rodacker; Toustrup-Jensen, Mads Schak; Vilsen, Bente

The Na+, K+-ATPase plays key roles in brain function. Recently, missense mutations in the Na+, K+-ATPase were found associated with familial rapid-onset dystonia parkinsonism (FRDP). Here, we have characterized the functional consequences of FRDP mutations Phe785Leu and Thr618Met. Both mutations...... lead to functionally altered, but active, Na+, K+-pumps that display reduced apparent affinity for cytoplasmic Na+, but the underlying mechanism differs between the mutants. In Phe785Leu, the interaction of the E1 form with Na+ is defective, and the E1-E2 equilibrium is not displaced. In Thr618Met......, the Na+ affinity is reduced because of displacement of the conformational equilibrium in favor of the K+-occluded E2(K2) form. In both mutants, K+ interaction at the external activating sites of the E2P phosphoenzyme is normal. The change of cellular Na+ homeostasis is likely a major factor contributing...

Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, Associated with Familial Rapid-Onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms

DEFF Research Database (Denmark)

Schack, Vivien Rodacker; Toustrup-Jensen, Mads Schak; Vilsen, Bente

The Na+, K+-ATPase plays key roles in brain function. Recently, missense mutations in the Na+, K+-ATPase were found associated with familial rapid-onset dystonia parkinsonism (FRDP). We have characterized the functional consequences of FRDP mutations Phe785Leu and Thr618Met. Both mutations lead...... to functionally altered, but active, Na+, K+-pumps that display reduced apparent affinity for cytoplasmic Na+, but the underlying mechanism differs between the mutants. In Phe785Leu, the interaction of the E1 form with Na+ is defective, and the E1-E2 equilibrium is not displaced. In Thr618Met, the Na+ affinity...... is reduced because of displacement of the conformational equilibrium in favor of the K+-occluded E2(K2) form. In both mutants, K+ interaction at the external activating sites of the E2P phosphoenzyme is normal. The change of cellular Na+ homeostasis is likely a major factor contributing to the development...

Primary care patients in the emergency department: who are they? A review of the definition of the 'primary care patient' in the emergency department.

Science.gov (United States)

Bezzina, Andrew J; Smith, Peter B; Cromwell, David; Eagar, Kathy

2005-01-01

To review the definition of 'primary care' and 'inappropriate' patients in ED and develop a generally acceptable working definition of a 'primary care' presentation in ED. A Medline review of articles on primary care in ED and the definitions used. A total of 34 reviewed papers contained a proposed definition or comment on the definition for potential 'primary care', 'general practice', or 'inappropriate' patients in ED. A representative definition was developed premised on the common factors in these papers: low urgency/acuity--triage categories four or five in the Australasian Triage Scale, self-referred--by definition, patients referred by general practitioner/community primary medical services are not primary care cases because a primary care service has referred them on, presenting for a new episode of care (i.e. not a planned return because planned returns are not self-referred), unlikely to be admitted (in the opinion of Emergency Nurse interviewers) or ultimately not admitted. This definition can be applied either prospectively or retrospectively, depending on the purpose. Appropriateness must be considered in light of a legitimate role for ED in primary care and the balance of resources between primary care and emergency medicine in local settings.

Differences in psychopathology and behavioral characteristics of patients affected by conversion motor disorder and organic dystonia.

Science.gov (United States)

Pastore, Adriana; Pierri, Grazia; Fabio, Giada; Ferramosca, Silvia; Gigante, Angelo; Superbo, Maria; Pellicciari, Roberta; Margari, Francesco

2018-01-01

Typically, the diagnosis of conversion motor disorder (CMD) is achieved by the exclusion of a wide range of organic illnesses rather than by applying positive criteria. New diagnostic criteria are highly needed in this scenario. The main aim of this study was to explore the use of behavioral features as an inclusion criterion for CMD, taking into account the relationship of the patients with physicians, and comparing the results with those from patients affected by organic dystonia (OD). Patients from the outpatient Movement Disorder Service were assigned to either the CMD or the OD group based on Fahn and Williams criteria. Differences in sociodemographics, disease history, psychopathology, and degree of satisfaction about care received were assessed. Patient-neurologist agreement about the etiological nature of the disorder was also assessed using the k -statistic. A logistic regression analysis estimated the discordance status as a predictor to case/control status. In this study, 31 CMD and 31 OD patients were included. CMD patients showed a longer illness life span, involvement of more body regions, higher comorbidity with anxiety, depression, and borderline personality disorder, as well as higher negative opinions about physicians' delivering of proper care. Contrary to our expectations, CMD disagreement with neurologists about the etiological nature of the disorder was not statistically significant. Additional analysis showed that having at least one personality disorder was statistically associated with the discordance status. This study suggests that CMD patients show higher conflicting behavior toward physicians. Contrary to our expectations, they show awareness of their psychological needs, suggesting a possible lack of recognition of psychological distress in the neurological setting.

Antibiotic prescribing in Danish general practice 2004-13

DEFF Research Database (Denmark)

Aabenhus, Rune; Siersma, Volkert; Plejdrup Hansen, Malene

2016-01-01

Objectives: Antibiotic consumption in the primary care sector is often perceived as synonymous with consumption in general practice despite the fact that few countries stratify the primary care sector by providers' medical specialty. We aimed to characterize and quantify antibiotic use in Danish...... general practice relative to the entire primary care sector. Methods: This was a registry-based study including all patients who redeemed an antibiotic prescription between July 2004 and June 2013 at a Danish community pharmacy. Antibiotic use was expressed as DDDs and treatments/1000 inhabitants....../day (DIDs and TIDs, respectively) and assessed according to antibiotic spectrum (narrow versus broad) and their anatomical therapeutic classification codes in total as well as in six age groups. Results: The contribution of general practice to the entire antibiotic use in the primary care sector declined...

On squaring the primary constraints in a generalized Hamiltonian dynamics

International Nuclear Information System (INIS)

Nesterenko, V.V.

1993-01-01

Consideration of the model of the relativistic particle with curvature and torsion in the three-dimensional space-time shows that the squaring of the primary constraints entails a wrong result. The complete set of the Hamiltonian constraints arising here corresponds to another model with an action similar but not identical with the initial action. 16 refs

Primary care and public health a natural alliance? The introduction of the guidelines for obesity and undernutrition of the Dutch College of General Practitioners.

Science.gov (United States)

van Avendonk, Mariëlle J P; Mensink, Paul A J S; Drenthen, A J M Ton; van Binsbergen, Jaap J

2012-04-01

The prevalence of obesity and overweight is increasing globally and forms a huge public health problem. On the other hand, the prevalence of malnutrition or undernutrition is substantial, especially in nursing homes or in the elderly at home. Primary care and public health are separate disciplines. But in the field of nutrition and other lifestyle-related interventions, there are many direct and indirect interfaces for over- as well as undernutrition. The Dutch College of General Practitioners (NHG) published the Practice Guideline Obesity in adults and children to lead GPs in this process and to bridge the gap with public health. The same applies for the recently published National Primary Care Cooperation Agreement Undernutrition on the collaboration of primary care workers to enhance awareness and early intervention in case of nutritional impairment. This article goes into the background as well as the content of these two NHG products and the implications for daily practice. An attempt is made to connect primary care and public health in this matter. Particularly in the case of obesity, a close relationship with public health is of vital importance.

Suicidal ideation in German primary care

NARCIS (Netherlands)

Wiborg, J.F.; Gieseler, D.; Lowe, B.

2013-01-01

OBJECTIVE: To examine suicidal ideation in a sample of German primary care patients. METHODS: We conducted a cross-sectional study and included 1455 primary care patients who visited 1 of 41 general practitioners (GPs) working at 19 different sites. Suicidal ideation and psychopathology were

Impact of investigations in general practice on timeliness of referral for patients subsequently diagnosed with cancer: analysis of national primary care audit data.

Science.gov (United States)

Rubin, G P; Saunders, C L; Abel, G A; McPhail, S; Lyratzopoulos, G; Neal, R D

2015-02-17

For patients with symptoms of possible cancer who do not fulfil the criteria for urgent referral, initial investigation in primary care has been advocated in the United Kingdom and supported by additional resources. The consequence of this strategy for the timeliness of diagnosis is unknown. We analysed data from the English National Audit of Cancer Diagnosis in Primary Care on patients with lung (1494), colorectal (2111), stomach (246), oesophagus (513), pancreas (327), and ovarian (345) cancer relating to the ordering of investigations by the General Practitioner and their nature. Presenting symptoms were categorised according to National Institute for Health and Care Excellence (NICE) guidance on referral for suspected cancer. We used linear regression to estimate the mean difference in primary-care interval by cancer, after adjustment for age, gender, and the symptomatic presentation category. Primary-care investigations were undertaken in 3198/5036 (64%) of cases. The median primary-care interval was 16 days (IQR 5-45) for patients undergoing investigation and 0 days (IQR 0-10) for those not investigated. Among patients whose symptoms mandated urgent referral to secondary care according to NICE guidelines, between 37% (oesophagus) and 75% (pancreas) were first investigated in primary care. In multivariable linear regression analyses stratified by cancer site, adjustment for age, sex, and NICE referral category explained little of the observed prolongation associated with investigation. For six specified cancers, investigation in primary care was associated with later referral for specialist assessment. This effect was independent of the nature of symptoms. Some patients for whom urgent referral is mandated by NICE guidance are nevertheless investigated before referral. Reducing the intervals between test order, test performance, and reporting can help reduce the prolongation of primary-care intervals associated with investigation use. Alternative models of

The relationship between learning mathematics and general cognitive ability in primary school.

Science.gov (United States)

Cowan, Richard; Hurry, Jane; Midouhas, Emily

2018-06-01

Three relationships between learning mathematics and general cognitive ability have been hypothesized: The educational hypothesis that learning mathematics develops general cognitive skills, the psychometric hypothesis that differences in general cognitive ability cause differences in mathematical attainment, and the reciprocal influence hypothesis that developments in mathematical ability and general cognitive ability influence each other. These hypotheses are assessed with a sample of 948 children from the Twins Early Development Study who were assessed at 7, 9, and 10 years on mathematics, English, and general cognitive ability. A cross-lagged path analysis with mathematics and general cognitive ability measures supports the reciprocal influence hypothesis between 7 and 9 and between 9 and 10. A second analysis including English assessments only provides evidence of a reciprocal relationship between 7 and 9. Statement of Contribution What is already known on this subject? The correlations between mathematical attainment, literacy, and measures of general cognitive skills are well established. The role of literacy in developing general cognitive skills is emerging. What the present study adds? Mathematics contributes to the development of general cognitive skills. General cognitive ability contributes to mathematical development between 7 and 10. These findings support the hypothesis of reciprocal influence between mathematics and general cognitive ability, at least between 7 and 9. © 2017 The British Psychological Society.

Screening for generalized anxiety disorder symptoms in the wake of terrorist attacks: a study in primary care.

Science.gov (United States)

Ghafoori, Bita; Neria, Yuval; Gameroff, Marc J; Olfson, Mark; Lantigua, Rafael; Shea, Steven; Weissman, Myrna M

2009-06-01

Little is known about the mental health impact of terrorism beyond posttraumatic stress disorder (PTSD) and depression. The associations between exposure to the September 11, 2001 (9/11) attacks in New York City and generalized anxiety disorder (GAD) symptoms were examined in a sample of 929 primary care patients. After controlling for PTSD, depression, panic and substance use disorders, and pre-9/11 trauma, patients who screened positive (vs. negative) for GAD symptoms were roughly twice as likely to report having a loved one at the 9/11 disaster site, twice as likely to know someone who was killed by the attacks, and twice as likely to know someone who was involved with the rescue/recovery efforts after the disaster. Implications for treatment and future research are discussed.

Attenuated Variants of Lesch-Nyhan Disease

Science.gov (United States)

Jinnah, H. A.; Ceballos-Picot, Irene; Torres, Rosa J.; Visser, Jasper E.; Schretlen, David J.; Verdu, Alfonso; Larovere, Laura E.; Chen, Chung-Jen; Cossu, Antonello; Wu, Chien-Hui; Sampat, Radhika; Chang, Shun-Jen; de Kremer, Raquel Dodelson; Nyhan, William; Harris, James C.; Reich, Stephen G.; Puig, Juan G.

2010-01-01

Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and self-injurious behaviour. In addition to the…

9 CFR 3.6 - Primary enclosures.

Science.gov (United States)

2010-01-01

... coated with a material such as plastic or fiberglass. The suspended floor of any primary enclosure must... and behavioral characteristics, and in accordance with generally accepted husbandry practices. If the... characteristics, and in accordance with generally accepted husbandry practices as determined by the attending...

A qualitative study of the impact of the implementation of advanced access in primary healthcare on the working lives of general practice staff

Directory of Open Access Journals (Sweden)

Offredy Maxine

2005-09-01

Full Text Available Abstract Background The North American model of 'advanced access' has been emulated by the National Primary Care Collaborative in the UK as a way of improving patients' access in primary care. The aim of this study was to explore the impact of the implementation of advanced access on the working lives of general practice staff. Methods A qualitative study design, using semi-structured interviews, was conducted with 18 general practice staff: 6 GPs, 6 practice managers and 6 receptionists. Two neighbouring boroughs in southeast England were used as the study sites. NUD*IST computer software assisted in data management to identify concepts, categories and themes of the data. A framework approach was used to analyse the data. Results Whilst practice managers and receptionists saw advanced access as having a positive effect on their working lives, the responses of general practitioners (GPs were more ambivalent. Receptionists reported improvements in their working lives with a change in their role from gatekeepers for appointments to providing access to appointments, fewer confrontations with patients, and greater job satisfaction. Practice managers perceived reductions in work stress from fewer patient complaints, better use of time, and greater flexibility for contingency planning. GPs recognised benefits in terms of improved consultations, but had concerns about the impact on workload and continuity of care. Conclusion AA has improved working conditions for receptionists, converting their perceived role from gatekeeper to access facilitator, and for practice managers as patients were more satisfied. GP responses were more ambivalent, as they experienced both positive and negative effects.

[Primary care in Ireland].

Science.gov (United States)

Sánchez-Sagrado, T

Spanish doctors are still leaving the country to look for quality work. Ireland is not a country with many Spanish professionals but it is interesting to know its particular Health care system. Ireland is one of the countries with a national health care system, although it has a mixture of private health care insurance schemes. People have a right to health care if they have been living in Ireland at least for a year. Access to the primary care health system depends on age and income: free of charge for Category 1 and co-payments for the rest. This division generates great inequalities among the population. Primary Care doctors are self-employed, and they work independently. However, since 2001 they have tended to work in multidisciplinary teams in order to strengthen the Primary Care practice. Salary is gained from a combination of public and private incomes which are not differentiated. The role of the General Practitioner consists in the treatment of acute and chronic diseases, minor surgery, child care, etc. There is no coordination between Primary and Secondary care. Access to specialised medicine is regulated by the price of consultation. Primary Care doctors are not gatekeepers. To be able to work here, doctors must have three years of training after medical school. After that, Continuing Medical Education is compulsory, and the college of general practitioners monitors it annually. The Irish health care system does not fit into the European model. Lack of a clear separation between public and private health care generates great inequalities. The non-existence of coordination between primary and specialised care leads to inefficiencies, which Ireland cannot allow itself after a decade of economic crisis. Copyright © 2017 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

Primary School Principals' Self-Monitoring Skills

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Konan, Necdet

2015-01-01

The aim of the present study is to identify primary school principals' self-monitoring skills. The study adopted the general survey model and its population comprised primary school principals serving in the city of Diyarbakir, Turkey, while 292 of these constituted the sample. Self-Monitoring Scale was used as the data collection instrument. In…

General indicators

International Nuclear Information System (INIS)

2003-01-01

This document summarizes the main 2002 energy indicators for France. A first table lists the evolution of general indicators between 1973 and 2002: energy bill, price of imported crude oil, energy independence, primary and final energy consumption. The main 2002 results are detailed separately for natural gas, petroleum and coal (consumption, imports, exports, production, stocks, prices). (J.S.)

Localization of dystonic muscles using {sup 18}F-FDG PET/CT in idiopathic cervical dystonia

Energy Technology Data Exchange (ETDEWEB)

Choi, J. Y.; Seung, D. H.; Kim, D. H.; Kim, E. S.; Sohn, Y. I.; Choi, Y.; Choi, E. S.; Lee, K. H.; Kim, B. T. [Samsung Medical Center, Seoul (Korea, Republic of)

2007-07-01

Chemodenervation with botulinum toxin (BT) is regarded as a first-line treatment for idiopathic cervical dystonia (ICD), sometimes referred to as spasmodic torticollis. Moreover, because effective treatment involves the injection of BT into most dystonic muscles, the accurate localization of dystonic muscles is clinically important. In this preliminary study, we investigated whether {sup 18}F-FDG PET/CT is useful for localizing dystonic cervical muscles in ICD by comparing disease severity after and before BT injection into muscles determined to be hypermetabolic by PET/CT. Six consecutive patients (all males; age 37 16 y) underwent {sup 18}F-FDG PET/CT once (n = 4) or twice (n = 2) in a supine (n = 5) or sitting position (n = 3) during the {sup 18}F-FDG uptake period. Dystonic muscles suitable for BT injection therapy were defined as those showing diffusely increased {sup 18}F-FDG uptake. To evaluate response to BT injection, the Tsui scale and the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) were applied. On PET/CT, hypermetabolic cervical muscles were identified in all 6 patients (3 in a supine position and 3 in a sitting position during {sup 18}F-FDG uptake periods). In 2 patients who underwent PET/CT in a supine and in a sitting position during 18F-FDG uptake, abnormal hypermetabolic muscles were observed only by PET/CT in a sitting position with patients heads and necks in the assumed abnormal involuntary posture. Symptoms were significantly improved, according to the Tsui (10.0 2.9 to 1.8 1.3, 82% reduction) and TWSTRS scales (severity: 21.3 2.1 to 5.8 5.3, 73% reduction; disability: 19.8 1.9 to 3.8 3.8, 81 % reduction) in all 4 patients who underwent BT injection therapy guided by PET/CT and who were clinically follow-up. {sup 18}F-FDG PET/CT is potentially useful for identifying dystonic cervical muscles in patients with ICD.

Effectiveness of intensive practice nurse counselling versus brief general practitioner advice, both combined with varenicline, for smoking cessation: a randomized pragmatic trial in primary care.

Science.gov (United States)

van Rossem, Carolien; Spigt, Mark; Viechtbauer, Wolfgang; Lucas, Annelies E M; van Schayck, Onno C P; Kotz, Daniel

2017-12-01

To study the effectiveness of intensive counselling by a practice nurse (PN) versus brief advice by a general practitioner (GP), each combined with pharmacotherapy, for 6 months' tobacco abstinence (primary outcome). Secondary outcomes included 12-month abstinence, medication adherence and incremental costs per life-year gained. A multi-site (n = 10), two-group, parallel, pragmatic randomized controlled trial. A network of primary health-care centres in the Netherlands. A total of 295 adult daily smokers (mean age = 48 years; mean cigarettes/day = 19). Patients were randomized to receive individual counselling by a practice nurse (PN) (n = 149) or brief advice by a general practitioner (GP) (146). All patients received 12 weeks of open-label varenicline. The primary outcome was prolonged biochemically validated abstinence from weeks 9 to 26 after treatment initiation. Secondary outcomes included abstinence from weeks 9 to 52, good dosing adherence (> 80% days taken) and incremental costs per life-year gained. Abstinence rates in the PN versus GP groups were 32.2% (n = 48) versus 39.0% [n = 57; odds ratio (OR) = 0.71; 95% confidence interval (CI) = 0.44-1.16] from weeks 9 to 26 and 25.5% (n = 38) versus 28.8% (n = 42; OR = 0.84, 95% CI = 0.50-1.43) from weeks 9 to 52, respectively. Values of the Bayes factor indicated that the PN and GP were equally effective. Good dosing adherence was significantly lower in the PN (45.5%, n = 56/123) than in the GP group (62.0%, n = 75/121; OR = 0.45, 95% CI = 0.26-0.77), and the incremental costs per life-year gained were -€416.10. Among people seeking help to stop smoking from their general practice, one-off brief advice from a general practitioner appears to be as effective as several sessions of behavioural support from a practice nurse when smoking cessation medication is provided. © 2017 Society for the Study of Addiction.

Primary black holes

International Nuclear Information System (INIS)

Novikov, I.; Polnarev, A.

1981-01-01

Proves are searched for of the formation of the so-called primary black holes at the very origin of the universe. The black holes would weigh less than 10 13 kg. The formation of a primary black hole is conditional on strong fluctuations of the gravitational field corresponding roughly to a half of the fluctuation maximally permissible by the general relativity theory. Only big fluctuations of the gravitational field can overcome the forces of the hot gas pressure and compress the originally expanding matter into a black hole. Low-mass black holes have a temperature exceeding that of the black holes formed from stars. A quantum process of particle formation, the so-called evaporation takes place in the strong gravitational field of a black hole. The lower the mass of the black hole, the shorter the evaporation time. The analyses of processes taking place during the evaporation of low-mass primary black holes show that only a very small proportion of the total mass of the matter in the universe could turn into primary black holes. (M.D.)

Identification of early childhood caries in primary care settings.

Science.gov (United States)

Nicolae, Alexandra; Levin, Leo; Wong, Peter D; Dave, Malini G; Taras, Jillian; Mistry, Chetna; Ford-Jones, Elizabeth L; Wong, Michele; Schroth, Robert J

2018-04-01

Early childhood caries (ECC) is the most common chronic disease affecting young children in Canada. ECC may lead to pain and infection, compromised general health, decreased quality of life and increased risk for dental caries in primary and permanent teeth. A multidisciplinary approach to prevent and identify dental disease is recommended by dental and medical national organizations. Young children visit primary care providers at regular intervals from an early age. These encounters provide an ideal opportunity for primary care providers to educate clients about their children's oral health and its importance for general health. We designed an office-based oral health screening guide to help primary care providers identify ECC, a dental referral form to facilitate dental care access and an oral health education resource to raise parental awareness. These resources were reviewed and trialled with a small number of primary care providers.

Interpretive medicine: Supporting generalism in a changing primary care world.

Science.gov (United States)

Reeve, Joanne

2010-01-01

Patient-centredness is a core value of general practice; it is defined as the interpersonal processes that support the holistic care of individuals. To date, efforts to demonstrate their relationship to patient outcomes have been disappointing, whilst some studies suggest values may be more rhetoric than reality. Contextual issues influence the quality of patient-centred consultations, impacting on outcomes. The legitimate use of knowledge, or evidence, is a defining aspect of modern practice, and has implications for patient-centredness. Based on a critical review of the literature, on my own empirical research, and on reflections from my clinical practice, I critique current models of the use of knowledge in supporting individualised care. Evidence-Based Medicine (EBM), and its implementation within health policy as Scientific Bureaucratic Medicine (SBM), define best evidence in terms of an epistemological emphasis on scientific knowledge over clinical experience. It provides objective knowledge of disease, including quantitative estimates of the certainty of that knowledge. Whilst arguably appropriate for secondary care, involving episodic care of selected populations referred in for specialist diagnosis and treatment of disease, application to general practice can be questioned given the complex, dynamic and uncertain nature of much of the illness that is treated. I propose that general practice is better described by a model of Interpretive Medicine (IM): the critical, thoughtful, professional use of an appropriate range of knowledges in the dynamic, shared exploration and interpretation of individual illness experience, in order to support the creative capacity of individuals in maintaining their daily lives. Whilst the generation of interpreted knowledge is an essential part of daily general practice, the profession does not have an adequate framework by which this activity can be externally judged to have been done well. Drawing on theory related to the

Prediction Primary Available Blend Biodiesel of Waste Oil from Aurantiochytrium sp. for General Diesel Engines

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Shu-Yao Tsai

2018-01-01

Full Text Available Chemical and enzyme transesterification were compared by discussing preliminary transesterification of waste oil of Aurantiochytrium sp., which was then used in transesterification for the primary available blend biodiesel for a general diesel engine in this study. We made progress on the winterized characteristics of the waste oil’s biodiesel of Aurantiochytrium sp. and its biodiesel, which included the reactivity parameters and properties. This approach led to the development of a novel idea for the evaluation of kinetic parameters of winterization, along with obtaining the suitable operation and storage conditions of biodiesel. Therefore, the waste oil of Aurantiochytrium sp. could be developed for biodiesel production and successfully made into a suitable blend diesel. Overall, we acquired the best condition of mixtures and the highly mixed rate of petrodiesel: biodiesel = 80 : 20 (activation energy of winterization 21.32 kJ/mol; onset temperature of winterization -4.15 °C; heat of combustion 43.15 MJ/kg; kinematic viscosity 3.51 mm2/s; flash point 67.5 °C, which was an appropriate blend biodiesel from the waste oil’s biodiesel of Aurantiochytrium sp.

Primary renal synovial sarcoma

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Girish D. Bakhshi

2012-03-01

Full Text Available Primary Renal Sarcoma is rare tumor comprising only 1% of all renal tumours. Synovial sarcomas are generally deep-seated tumors arising in the proximity of large joints of adolescents and young adults and account for 5-10% of all soft tissue tumours. Primary synovial sarcoma of kidney is rare and has poor prognosis. It can only be diagnosed by immunohistochemistry. It should be considered as a differential in sarcomatoid and spindle cell tumours. We present a case of 33-year-old female, who underwent left sided radical nephrectomy for renal tumour. Histopathology and genetic analysis diagnosed it to be primary renal synovial sarcoma. Patient underwent radiation therapy and 2 years follow up is uneventful. A brief case report with review of literature is presented.

Primary decomposition of torsion R[X]-modules

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William A. Adkins

1994-01-01

Full Text Available This paper is concerned with studying hereditary properties of primary decompositions of torsion R[X]-modules M which are torsion free as R-modules. Specifically, if an R[X]-submodule of M is pure as an R-submodule, then the primary decomposition of M determines a primary decomposition of the submodule. This is a generalization of the classical fact from linear algebra that a diagonalizable linear transformation on a vector space restricts to a diagonalizable linear transformation of any invariant subspace. Additionally, primary decompositions are considered under direct sums and tensor product.

Distonia aguda relacionada ao uso de bromoprida em pacientes pediátricos Acute dystonia after use of bromopride in pediatric patients

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Eliane Roseli Barreira

2009-03-01

Full Text Available OBJETIVO: Descrever dois casos de distonia aguda após uso de bromoprida em crianças e realizar revisão da literatura em relação aos mecanismos fisiopatológicos de indução de liberação extrapiramidal, sua sintomatologia e tratamento. DESCRIÇÃO DO CASO: Caso 1: adolescente de 13 anos com quadro de dor e hipertonia cervical associados a febre, náuseas e vômitos, com hipótese inicial de meningite. A investigação subsequente revelou que o quadro iniciou-se após ingestão de uma única dose de bromoprida. O paciente apresentou boa resposta ao tratamento com difenidramina, sem necessidade de coleta de líquor. Caso 2: Lactente de seis meses que desenvolveu sintomas graves de liberação extrapiramidal relacionados à superdosagem de bromoprida, com reversão rápida dos sintomas após administração de biperideno. COMETÁRIOS: Este é o primeiro relato de distonia aguda após uso de bromoprida em crianças. Embora muito utilizada no Brasil como agente pró-cinético e antiemético, nenhum estudo clínico até o momento demonstrou melhor perfil de segurança da bromoprida em relação aos demais antieméticos antagonistas da dopamina. Até que tais estudos sejam realizados, sugere-se cautela na prescrição de bromoprida. Medidas não-farmacológicas devem ser recomendadas no tratamento de vômitos e da doença do refluxo gastresofágico. Quando o tratamento farmacológico for indispensável, deve-se dar preferência a drogas com perfil de segurança mais bem estabelecido.OBJECTIVE: To report the case of two patients with acute dystonia induced by bromopride in children, followed by a review of the mechanisms of induction of movement disorders by antidopaminergic anti-emetic drugs, its clinical symptoms and treatment. CASE DESCRIPTION: Case 1: a 13 years old teenager who developed acute hypertonia and neck pain associated to fever and vomiting, suggestive of meningitis. Further investigation revealed that symptoms were associated with

Risk of Post-Discharge Venous Thromboembolism and Associated Mortality in General Surgery: A Population-Based Cohort Study Using Linked Hospital and Primary Care Data in England.

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Bouras, George; Burns, Elaine Marie; Howell, Ann-Marie; Bottle, Alex; Athanasiou, Thanos; Darzi, Ara

2015-01-01

Trends towards day case surgery and enhanced recovery mean that postoperative venous thromboembolism (VTE) may increasingly arise after hospital discharge. However, hospital data alone are unable to capture adverse events that occur outside of the hospital setting. The National Institute for Health and Care Excellence has suggested the use of primary care data to quantify hospital care-related VTE. Data in surgical patients using these resources is lacking. The aim of this study was to measure VTE risk and associated mortality in general surgery using linked primary care and hospital databases, to improve our understanding of harm from VTE that arises beyond hospital stay. This was a longitudinal cohort study using nationally linked primary care (Clinical Practice Research Datalink, CPRD), hospital administrative (Hospital Episodes Statistics, HES), population statistics (Office of National Statistics, ONS) and National Cancer Intelligence Network databases. Routinely collected information was used to quantify 90-day in-hospital VTE, 90-day post-discharge VTE and 90-day mortality in adults undergoing one of twelve general surgical procedures between 1st April 1997 and 31st March 2012. The earliest postoperative recording of deep vein thrombosis or pulmonary embolism in CPRD, HES and ONS was counted in each patient. Covariates from multiple datasets were combined to derive detailed prediction models for VTE and mortality. Limitation included the capture of VTE presenting to healthcare only and the lack of information on adherence to pharmacological thromboprophylaxis as there was no data linkage to hospital pharmacy records. There were 981 VTE events captured within 90 days of surgery in 168005 procedures (23.7/1000 patient-years). Overall, primary care data increased the detection of postoperative VTE by a factor of 1.38 (981/710) when compared with using HES and ONS only. Total VTE rates ranged between 3.2/1000 patient-years in haemorrhoidectomy to 118

Decentralization and Distribution Primary Education Access in Indonesia 2014

OpenAIRE

Benita, Novinaz

2016-01-01

This paper examines decentralisation and distribution of access to primary school in Indonesia. Data come from Indonesia National Socio Economic Survey 2014, and statistic reports from Ministry of education, Ministry Of Finance, and General Election Commision. Descriptive statistic is used to describe spatial distribution of decentralization in primary education system and distribution of primary education access. The results show there are districts disparities in decentralization of primary...

The Prevalence and Types of Child Abuse among Teachers and its Relationship with their Demographic Characteristics and General Health in Primary Schools

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Zahra Boroumandfar

2015-08-01

Full Text Available Introduction Teachers are one of the groups that in addition to teaching the students can have a role in control and identification of child abuse and violence in schools. Certainly, before doing any action and choose an approach to reduce misbehavior, we should be aware of situation, how and prevalence of child abuse in schools. The present study aims to investigate the prevalence and types of child abuse among teachers and its relationship with demographic characteristics and general health in teachers whom teaching in primary schools. Materials and Methods This was a cross-sectional study on 350 female and male students and 82 teachers that performed with a multi-stage sampling method. The tools for data gathering included: questionnaire of teachers' personal and job characteristics (12 questions, General Health Questionnaire (GHQ (28 questions, and standard questionnaire of Conflict Tactics Scale. Data were analyzed by the statistical tests of independent t-test, Mann–Whitney, chi-square, one-way analysis of variance (ANOVA, with SPSS version 16. Results Results of statistical analysis revealed that there wasn’t a significant association between general health and physical abuse. But there was a significant association between general health, emotional abuse and neglect. So that their general health score was higher (more score was not associated with better general health, the emotional abuse and neglect were also higher. Conclusions According to the results, it is suggested to design and implement some programs for prevention and reduction of violence in schools of our country and education of violence prevention methods should be part of school curriculum.

Avaliação do filme lacrimal de pacientes com distonia facial durante tratamento com toxina botulínica tipo A Lacrimal film evaluation of patients with facial dystonia during botulinum toxin type A treatment

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Patricia Grativol Costa

2006-06-01

Full Text Available OBJETIVO: Determinar o efeito da toxina botulínica no filme lacrimal em pacientes com distonia facial. MÉTODOS: Foram incluídos 24 pacientes portadores de blefaroespasmo essencial e espasmo hemifacial que receberam aplicação de toxina botulínica tipo A que foram submetidos à propedêutica do filme lacrimal previamente à aplicação e após, com 7 e 30 dias. RESULTADOS: Houve diminuição das queixas de olho seco trinta dias após a aplicação, entretanto, o tempo de ruptura do filme lacrimal e o teste de Schirmer não demonstraram variação significativa entre os períodos pré-tratamento e 1 mês da aplicação. Em relação ao teste de coloração com rosa bengala, todos os olhos que coraram no pré-tratamento, melhoraram na última avaliação. CONCLUSÃO: A injeção de toxina botulínica pode aliviar as queixas de olho seco nos pacientes com distonia facial pela provável ação de inibição do orbicular na sua função de bomba lacrimal.PURPOSE: To determine the effect of botulinum toxin injection in the eyelid on lacrimal film in patients with facial dystonia. METHODS: Twenty-four patients with essential blepharospasm and hemifacial spasm were submitted to botulinum toxin injection and lacrimal film tests were performed before the application and after seven and thirty days. RESULTS: There was improvement in symptoms of dry eye and rose bengal test, however, the breakup time and Schirmer's test did not show significant variation between pretreatment and after 1 month of follow-up. CONCLUSION: The dry eye symptoms in patients with facial dystonia may be attenuated by botulinum toxin due to its possible inhibitory effect on the orbicular muscle leading to a decrease in lacrimal pump.

Eficácia do resfriamento da pele no alívio da dor desencadeada pela injeção de toxina botulínica tipo A nas distonias faciais Skin cooling efficacy on pain relief in periocular injections with botulinum toxin A in facial dystonias

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Paula Barros Bandeira de Mello Monteiro

2012-12-01

Full Text Available OBJETIVO: Avaliar a eficácia do resfriamento da pele com gelo no alívio da dor desencadeada pela injeção de toxina botulínica tipo A na região periocular em pacientes portadores de distonia facial. MÉTODOS: Neste estudo prospectivo, 13 pacientes receberam injeção de toxina botulínica tipo A em região glabelar (m. prócero e periocular (m. orbicular para tratamento de distonia facial. Antes das aplicações, um lado da região glabelar foi resfriado com gelo durante 5 minutos, enquanto no outro lado foi aplicada pomada Epitezan®, funcionando como placebo. A aplicação foi feita primeiramente no lado resfriado. Após a aplicação em cada um dos lados os pacientes foram instruídos a dar uma nota para a dor desencadeada pela injeção, em uma escala de 0 a 10 onde 0 era ausência de dor e 10 a dor mais intensa. RESULTADOS: A média das notas dadas pelos pacientes à dor desencadeada pela injeção no lado onde foi aplicado placebo foi 3,92 ± 3,28. No local onde foi aplicado gelo a média das notas foi de 2,92 ± 2,18 (p PURPOSE: To evaluate the efficacy of skin cooling with ice on pain relief in periocular injection with botulinum toxin type A in patients with facial dystonias. METHODS: In this prospective study, 13 patients received botulinum toxin type A injection in glabela (procerus m. and periocular region (orbicular m. for facial dystonias treatment. Before the injections, one side of the glabela was submitted to a 5-minute cooling period, while the opposite side had Epitezan® cream applied, as a placebo. The application was done at the cooled side first. After the application on each side the patients were instructed to rate the pain associated with the injection on a scale from 0 to 10, with 0 indicating no pain and 10 the worst pain. RESULTS: The average pain score on the side where cold was applied was 3,92 ± 3,28, while on the control side the average pain score was 2,92 ± 2,18 (p < 0,0166. CONCLUSION: In this study

Changing Paradigms in General Music Education

Science.gov (United States)

Özgül, Ilhan

2015-01-01

In Turkey, part of general music education in primary schools is music lessons, which are taught by primary school teachers for grades 1-4 and music teachers for grades 5-8. In the 21st century, the music education approach in schools has shifted from "school music" to "music in the school." This orientation is directly related…

Other primary headaches

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Anish Bahra

2012-01-01

Full Text Available The ′Other Primary Headaches′ include eight recognised benign headache disorders. Primary stabbing headache is a generally benign disorder which often co-exists with other primary headache disorders such as migraine and cluster headache. Primary cough headache is headache precipitated by valsalva; secondary cough has been reported particularly in association with posterior fossa pathology. Primary exertional headache can occur with sudden or gradual onset during, or immediately after, exercise. Similarly headache associated with sexual activity can occur with gradual evolution or sudden onset. Secondary headache is more likely with both exertional and sexual headache of sudden onset. Sudden onset headache, with maximum intensity reached within a minute, is termed thunderclap headache. A benign form of thunderclap headache exists. However, isolated primary and secondary thunderclap headache cannot be clinically differentiated. Therefore all headache of thunderclap onset should be investigated. The primary forms of the aforementioned paroxysmal headaches appear to be Indomethacin sensitive disorders. Hypnic headache is a rare disorder which is termed ′alarm clock headache′, exclusively waking patients from sleep. The disorder can be Indomethacin responsive, but can also respond to Lithium and caffeine. New daily persistent headache is a rare and often intractable headache which starts one day and persists daily thereafter for at least 3 months. The clinical syndrome more often has migrainous features or is otherwise has a chronic tension-type headache phenotype. Management is that of the clinical syndrome. Hemicrania continua straddles the disorders of migraine and the trigeminal autonomic cephalalgias and is not dealt with in this review.

Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration

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Pedro J. Garcia-Ruiz

2015-01-01

Full Text Available Pantothenate kinase-associated neurodegeneration (PKAN is usually associated with dystonia, which is typically severe and progressive over time. Pallidal stimulation (GPi DBS has been carried out in selected cases of PKAN with drug-resistant dystonia with variable results. We report a 30-month follow-up study of a 30-year-old woman with PKAN-related dystonia treated with GPi DBS. Postoperatively, the benefit quickly became evident, as the patient exhibited a marked improvement in her dystonia, including her writing difficulty. This result has been maintained up to the present. GPi DBS should be considered in dystonic PKAN patients provided fixed contractures and/or pyramidal symptoms are not present.

General practitioner views on the determinants of test ordering: a theory-based qualitative approach to the development of an intervention to improve immunoglobulin requests in primary care.

LENUS (Irish Health Repository)

Cadogan, S L

2016-07-19

Research suggests that variation in laboratory requesting patterns may indicate unnecessary test use. Requesting patterns for serum immunoglobulins vary significantly between general practitioners (GPs). This study aims to explore GP\\'s views on testing to identify the determinants of behaviour and recommend feasible intervention strategies for improving immunoglobulin test use in primary care.

Primary Malignant Bone Tumours at the University Teaching ...

African Journals Online (AJOL)

Introduction: Primary malignant bone tumours include malignancies arising primarily from bone tissue. This is opposed to secondary bone tumours in which case the neoplastic elements arise primarily from other sites within the body and secondarily spread to bone. Primary malignant bone tumours are generally ...

Psychometric analysis of the Generalized Anxiety Disorder scale (GAD-7) in primary care using modern item response theory.

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Jordan, Pascal; Shedden-Mora, Meike C; Löwe, Bernd

2017-01-01

The Generalized Anxiety Disorder scale (GAD-7) is one of the most frequently used diagnostic self-report scales for screening, diagnosis and severity assessment of anxiety disorder. Its psychometric properties from the view of the Item Response Theory paradigm have rarely been investigated. We aimed to close this gap by analyzing the GAD-7 within a large sample of primary care patients with respect to its psychometric properties and its implications for scoring using Item Response Theory. Robust, nonparametric statistics were used to check unidimensionality of the GAD-7. A graded response model was fitted using a Bayesian approach. The model fit was evaluated using posterior predictive p-values, item information functions were derived and optimal predictions of anxiety were calculated. The sample included N = 3404 primary care patients (60% female; mean age, 52,2; standard deviation 19.2) The analysis indicated no deviations of the GAD-7 scale from unidimensionality and a decent fit of a graded response model. The commonly suggested ultra-brief measure consisting of the first two items, the GAD-2, was supported by item information analysis. The first four items discriminated better than the last three items with respect to latent anxiety. The information provided by the first four items should be weighted more heavily. Moreover, estimates corresponding to low to moderate levels of anxiety show greater variability. The psychometric validity of the GAD-2 was supported by our analysis.

Abnormal Structure–Function Relationship in Spasmodic Dysphonia

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Ludlow, Christy L.

2012-01-01

Spasmodic dysphonia (SD) is a primary focal dystonia characterized by involuntary spasms in the laryngeal muscles during speech production. Although recent studies have found abnormal brain function and white matter organization in SD, the extent of gray matter alterations, their structure–function relationships, and correlations with symptoms remain unknown. We compared gray matter volume (GMV) and cortical thickness (CT) in 40 SD patients and 40 controls using voxel-based morphometry and cortical distance estimates. These measures were examined for relationships with blood oxygen level–dependent signal change during symptomatic syllable production in 15 of the same patients. SD patients had increased GMV, CT, and brain activation in key structures of the speech control system, including the laryngeal sensorimotor cortex, inferior frontal gyrus (IFG), superior/middle temporal and supramarginal gyri, and in a structure commonly abnormal in other primary dystonias, the cerebellum. Among these regions, GMV, CT and activation of the IFG and cerebellum showed positive relationships with SD severity, while CT of the IFG correlated with SD duration. The left anterior insula was the only region with decreased CT, which also correlated with SD symptom severity. These findings provide evidence for coupling between structural and functional abnormalities at different levels within the speech production system in SD. PMID:21666131

Using information to deliver safer care: a mixed-methods study exploring general practitioners’ information needs in North West London primary care

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Nikolaos Mastellos

2014-12-01

Full Text Available Background The National Health Service in England has given increasing priority to improving inter-professional communication, enabling better management of patients with chronic conditions and reducing medical errors through effective use of information. Despite considerable efforts to reduce patient harm through better information usage, medical errors continue to occur, posing a serious threat to patient safety.Objectives This study explores the range, quality and sophistication of existing information systems in primary care with the aim to capture what information practitioners need to provide a safe service and identify barriers to its effective use in care pathways.Method Data were collected through semi-structured interviews with general practitioners from surgeries in North West London and a survey evaluating their experience with information systems in care pathways.Results Important information is still missing, specifically discharge summaries detailing medication changes and changes in the diagnosis and management of patients, blood results ordered by hospital specialists and findings from clinical investigations. Participants identified numerous barriers, including the communication gap between primary and secondary care, the variable quality and consistency of clinical correspondence and the inadequate technological integration.Conclusion Despite attempts to improve integration and information flow in care pathways, existing systems provide practitioners with only partial access to information, hindering their ability to take informed decisions. This study offers a framework for understanding what tools should be in place to enable effective use of information in primary care. 

Should measures of patient experience in primary care be adjusted for case mix? Evidence from the English General Practice Patient Survey.

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Paddison, Charlotte; Elliott, Marc; Parker, Richard; Staetsky, Laura; Lyratzopoulos, Georgios; Campbell, John L; Roland, Martin

2012-08-01

Uncertainties exist about when and how best to adjust performance measures for case mix. Our aims are to quantify the impact of case-mix adjustment on practice-level scores in a national survey of patient experience, to identify why and when it may be useful to adjust for case mix, and to discuss unresolved policy issues regarding the use of case-mix adjustment in performance measurement in health care. Secondary analysis of the 2009 English General Practice Patient Survey. Responses from 2 163 456 patients registered with 8267 primary care practices. Linear mixed effects models were used with practice included as a random effect and five case-mix variables (gender, age, race/ethnicity, deprivation, and self-reported health) as fixed effects. Primary outcome was the impact of case-mix adjustment on practice-level means (adjusted minus unadjusted) and changes in practice percentile ranks for questions measuring patient experience in three domains of primary care: access; interpersonal care; anticipatory care planning, and overall satisfaction with primary care services. Depending on the survey measure selected, case-mix adjustment changed the rank of between 0.4% and 29.8% of practices by more than 10 percentile points. Adjusting for case-mix resulted in large increases in score for a small number of practices and small decreases in score for a larger number of practices. Practices with younger patients, more ethnic minority patients and patients living in more socio-economically deprived areas were more likely to gain from case-mix adjustment. Age and race/ethnicity were the most influential adjustors. While its effect is modest for most practices, case-mix adjustment corrects significant underestimation of scores for a small proportion of practices serving vulnerable patients and may reduce the risk that providers would 'cream-skim' by not enrolling patients from vulnerable socio-demographic groups.

The Mayo Clinic Arizona Spasmodic Dysphonia Experience: A Demographic Analysis of 718 Patients.

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Patel, Alpen B; Bansberg, Stephen F; Adler, Charles H; Lott, David G; Crujido, Lisa

2015-11-01

Analyze demographic data collected over a 25-year experience of 718 patients with spasmodic dysphonia (SD) who have been treated with botulinum toxin-A (BoNT-A) and compare our data with previously published studies. Seven hundred eighteen patients with SD were treated with 6621 BoNT-A injections at Mayo Clinic Arizona between 1989 and 2014. All patients were treated by the same physician team. Background demographic data for each patient were recorded. Of 718 patients, 557 patients were female (77.6%). Six hundred sixty of 718 (91.8%) patients had adductor SD (AdSD), and 58 of 718 (8.1%) patients had abductor SD (AbSD). Average age of onset was 51 years. Of 718 patients, 378 (52.6%) had vocal tremor (VT); VT was present in 54.4% of AdSD patients and 32.1% of AbSD patients. Thirty-seven of 718 (5.2%) patients had other dystonias, including cervical dystonia (2.3%), blepharospasm (1.4%), limb dystonia (1.1%), and oromandibular dystonia (0.3%). A positive family history of SD was present in only 6 of 718 patients (0.8%) and of other dystonias in 11 of 718 patients (1.5%). Spasmodic dysphonia is a chronic and potentially disabling focal laryngeal dystonia. The Mayo Clinic Arizona SD experience compares to prior reports and reveals a female preponderance, onset in middle age, infrequent hereditary pattern, high co-occurrence of VT, and low co-occurrence of other dystonias. © The Author(s) 2015.

Primary Auditory Cortex Regulates Threat Memory Specificity

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Wigestrand, Mattis B.; Schiff, Hillary C.; Fyhn, Marianne; LeDoux, Joseph E.; Sears, Robert M.

2017-01-01

Distinguishing threatening from nonthreatening stimuli is essential for survival and stimulus generalization is a hallmark of anxiety disorders. While auditory threat learning produces long-lasting plasticity in primary auditory cortex (Au1), it is not clear whether such Au1 plasticity regulates memory specificity or generalization. We used…

English Language Education in Primary Schooling in Argentina

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Porto, Melina

2016-01-01

This article describes public primary English language education in Argentina. I begin with background information about the country and a brief historical overview of education in general, accompanied by a portrait of primary schooling in particular. This overview involves local, political and economic considerations but also international…

[Research interest by general practitioners: a survey].

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Rossi, S; Zoller, M; Steurer, J

2006-12-06

For doing research on topics in primary care medicine participation of primary care physicians is necessary. Research in this field of medicine is only marginally established in Switzerland. In a postal survey we evaluate the general attitudes of physicians towards research in the field of primary care. In particular we were interested in their willingness to participate in research projects and the facilitating and impeding factors to take part in such projects. A purpose designed questionnaire was sent by post to 3044 primary care physicians in the central and eastern parts of Switzerland. The return rate was 52%. A majority of 94% of the responding physicians revealed interest in primary care research and 60% of all responders are willing to participate actively in such projects. They are prepared to spend about 15 min a day for data acquisition. Their willingness to participate depends on the conditions that, first, the research topic is relevant for daily practice and, second, boards odder Continuous Medical Education credits for time spent for research. Time constraints, additional administrative work and lack of relevance of research topics to daily practice are the main barriers. This survey demonstrates the general interest of primary care physicians to participate in relevant research projects. Therefore the structure to set up such research should be established.

Differences in psychopathology and behavioral characteristics of patients affected by conversion motor disorder and organic dystonia

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Pastore A

2018-05-01

Full Text Available Adriana Pastore, Grazia Pierri, Giada Fabio, Silvia Ferramosca, Angelo Gigante, Maria Superbo, Roberta Pellicciari, Francesco Margari Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy Purpose: Typically, the diagnosis of conversion motor disorder (CMD is achieved by the exclusion of a wide range of organic illnesses rather than by applying positive criteria. New diagnostic criteria are highly needed in this scenario. The main aim of this study was to explore the use of behavioral features as an inclusion criterion for CMD, taking into account the relationship of the patients with physicians, and comparing the results with those from patients affected by organic dystonia (OD. Patients and methods: Patients from the outpatient Movement Disorder Service were assigned to either the CMD or the OD group based on Fahn and Williams criteria. Differences in sociodemographics, disease history, psychopathology, and degree of satisfaction about care received were assessed. Patient–neurologist agreement about the etiological nature of the disorder was also assessed using the k-statistic. A logistic regression analysis estimated the discordance status as a predictor to case/control status. Results: In this study, 31 CMD and 31 OD patients were included. CMD patients showed a longer illness life span, involvement of more body regions, higher comorbidity with anxiety, depression, and borderline personality disorder, as well as higher negative opinions about physicians’ delivering of proper care. Contrary to our expectations, CMD disagreement with neurologists about the etiological nature of the disorder was not statistically significant. Additional analysis showed that having at least one personality disorder was statistically associated with the discordance status. Conclusion: This study suggests that CMD patients show higher conflicting behavior toward physicians. Contrary to our

Why do patients seek primary medical care in emergency departments? An ethnographic exploration of access to general practice.

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MacKichan, Fiona; Brangan, Emer; Wye, Lesley; Checkland, Kath; Lasserson, Daniel; Huntley, Alyson; Morris, Richard; Tammes, Peter; Salisbury, Chris; Purdy, Sarah

2017-05-04

To describe how processes of primary care access influence decisions to seek help at the emergency department (ED). Ethnographic case study combining non-participant observation, informal and formal interviewing. Six general practitioner (GP) practices located in three commissioning organisations in England. Reception areas at each practice were observed over the course of a working week (73 hours in total). Practice documents were collected and clinical and non-clinical staff were interviewed (n=19). Patients with recent ED use, or a carer if aged 16 and under, were interviewed (n=29). Past experience of accessing GP care recursively informed patient decisions about where to seek urgent care, and difficulties with access were implicit in patient accounts of ED use. GP practices had complicated, changeable systems for appointments. This made navigating appointment booking difficult for patients and reception staff, and engendered a mistrust of the system. Increasingly, the telephone was the instrument of demand management, but there were unintended consequences for access. Some patient groups, such as those with English as an additional language, were particularly disadvantaged, and the varying patient and staff semantic of words like 'urgent' and 'emergency' was exacerbated during telephone interactions. Poor integration between in-hours and out-of-hours care and patient perceptions of the quality of care accessible at their GP practice also informed ED use. This study provides important insight into the implicit role of primary care access on the use of ED. Discourses around 'inappropriate' patient demand neglect to recognise that decisions about where to seek urgent care are based on experiential knowledge. Simply speeding up access to primary care or increasing its volume is unlikely to alleviate rising ED use. Systems for accessing care need to be transparent, perceptibly fair and appropriate to the needs of diverse patient groups. © Article author(s) (or

Primary optic nerve sheath meningioma

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Jeremic, Branislav [International Atomic Energy Agency, Vienna (Austria); Pitz, Susanne (eds.) [University Eye Hospital, Mainz (Germany)

2008-07-01

Optic nerve sheath meningioma (ONSM) is a rare tumour. Cases are usually separated into primary ONSM, which arises either intraorbitally or, less commonly, intracanalicularly, and secondary ONSM, which arises intracranially and subsequently invades the optic canal and orbit. This is the first book to cover all important aspects of the diagnosis and treatment of primary ONSM. After a general introduction, individual chapters discuss the clinical presentation, clinical examination and diagnosis, imaging, and histology. Treatment options are then addressed in detail, with special emphasis on external beam radiation therapy, and in particular stereotactic fractionated radiation therapy. The latter has recently produced consistently good results and is now considered the emerging treatment of choice for the vast majority of patients with primary ONSM. This well-illustrated book will prove invaluable to all practitioners who encounter primary ONSM in their clinical work. (orig.)

A comparison of the 'cost per child treated' at a primary care-based sedation referral service, compared to a general anaesthetic in hospital.

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Jameson, K; Averley, P A; Shackley, P; Steele, J

2007-09-22

To compare the cost-effectiveness of dental sedation techniques used in the treatment of children, focusing on hospital-based dental general anaesthetic (DGA) and advanced conscious sedation in a controlled primary care environment. Data on fees, costs and treatment pathways were obtained from a primary care clinic specialising in advanced sedation techniques. For the hospital-based DGA cohort, data were gathered from hospital trusts in the same area. Comparison was via an average cost per child treated and subsequent sensitivity analysis. Analysing records spanning one year, the average cost per child treated via advanced conscious sedation was pound245.47. As some treatments fail (3.5% of cases attempted), and the technique is not deemed suitable for all patients (4-5%), DGA is still required and has been factored into this cost. DGA has an average cost per case treated of pound359.91, 46.6% more expensive than advanced conscious sedation. These cost savings were robust to plausible variation in all parameters. The costs of advanced conscious sedation techniques, applied in a controlled primary care environment, are substantially lower than the equivalent costs of hospital-based DGA, informing the debate about the optimum way of managing this patient group.

Datasets collected in general practice: an international comparison using the example of obesity.

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Sturgiss, Elizabeth; van Boven, Kees

2018-06-04

International datasets from general practice enable the comparison of how conditions are managed within consultations in different primary healthcare settings. The Australian Bettering the Evaluation and Care of Health (BEACH) and TransHIS from the Netherlands collect in-consultation general practice data that have been used extensively to inform local policy and practice. Obesity is a global health issue with different countries applying varying approaches to management. The objective of the present paper is to compare the primary care management of obesity in Australia and the Netherlands using data collected from consultations. Despite the different prevalence in obesity in the two countries, the number of patients per 1000 patient-years seen with obesity is similar. Patients in Australia with obesity are referred to allied health practitioners more often than Dutch patients. Without quality general practice data, primary care researchers will not have data about the management of conditions within consultations. We use obesity to highlight the strengths of these general practice data sources and to compare their differences. What is known about the topic? Australia had one of the longest-running consecutive datasets about general practice activity in the world, but it has recently lost government funding. The Netherlands has a longitudinal general practice dataset of information collected within consultations since 1985. What does this paper add? We discuss the benefits of general practice-collected data in two countries. Using obesity as a case example, we compare management in general practice between Australia and the Netherlands. This type of analysis should start all international collaborations of primary care management of any health condition. Having a national general practice dataset allows international comparisons of the management of conditions with primary care. Without a current, quality general practice dataset, primary care researchers will not

Topics in general topology

CERN Document Server

Morita, K

1989-01-01

Being an advanced account of certain aspects of general topology, the primary purpose of this volume is to provide the reader with an overview of recent developments.The papers cover basic fields such as metrization and extension of maps, as well as newly-developed fields like categorical topology and topological dynamics. Each chapter may be read independently of the others, with a few exceptions. It is assumed that the reader has some knowledge of set theory, algebra, analysis and basic general topology.

A new approach for primary overloads allowance in ratcheting evaluation

International Nuclear Information System (INIS)

Cabrillat, M.T.; Gatt, J.M.; Lejeail, Y.

1995-01-01

Seismic loading must be taken into account in ratchetting design analysis. In LMFBR structures it mainly produces primary overloads, which are characterised by severe magnitudes but a generally low number of occurrences. Other cases of several primary overloads can also observed in pipes during emptying operations for instance. In the RCC-MR design code rule, the maximum primary stress supported by a structure is considered as permanent. No allowance is made for temporary load. Experimental ratchetting tests conducted on different structures with and without overloads clearly point out that temporary overloads lead to less ratchetting effect. A method using the RCC-MR efficiency diagram framework is proposed. A general theoretical approach allows to extend its field of application of various cases of primary loading: constant or null primary loading or overloads. Experimental results are then used to check the validity of this new approach. (author). 2 refs., 2 figs., 2 tabs