992 resultados para Focal Dystonia
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Dystonia is associated with impaired somatosensory ability. The electrophysiological method of repetitive transcranial magnetic stimulation (rTMS) can be used for noninvasive stimulation of the human cortex and can alter cortical excitability and associated behavior. Among others, rTMS can alter/improve somatosensory discrimation abilities, as shown in healthy controls. We applied 5Hz-rTMS over the left primary somatosensory cortex (S1) in 5 patients with right-sided writer's dystonia and 5 controls. We studied rTMS effects on tactile discrimination accuracy and concomitant rTMS-induced changes in hemodynamic activity measured by functional magnetic resonance imaging (fMRI). Before rTMS, patients performed worse on the discrimination task than controls even though fMRI showed greater task-related activation bilaterally in the basal ganglia (BG). In controls, rTMS led to improved discrimination; fMRI revealed this was associated with increased activity of the stimulated S1, bilateral premotor cortex and BG. In dystonia patients, rTMS had no effect on discrimination; fMRI showed similar cortical effects to controls except for no effects in BG. Improved discrimination after rTMS in controls is linked to enhanced activation of S1 and BG. Failure of rTMS to increase BG activation in dystonia may be associated with the lack of effect on sensory discrimination in this group and may reflect impaired processing in BG-S1 connections. Alternatively, the increased BG activation seen in the baseline state without rTMS may reflect a compensatory strategy that saturates a BG contribution to this task.
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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.
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RESUMO: pela contracção involuntária de grupos musculares de extensão variável, originando movimentos involuntários e posturas anómalas, por vezes dolorosas. O tratamento convencional consiste em injecções localizadas de toxina botulínica, podendo, em casos refractários, estar indicado o tratamento por estimulação cerebral profunda. A neurobiologia da distonia focal primária permanece incompletamente compreendida. Os estudos de neuro-imagem estrutural e funcional revelam alterações subtis da anatomia e funcionamento do estriado e das vias cortico-basais, com destaque para o aumento do volume, da actividade metabólica e da neuroplasticidade do putamen e de áreas corticais motoras, pré-motoras e sensitivas. O conjunto destas alterações aponta para uma disrupção da regulação inibitória de programas motores automáticos sustentados pelo estriado e pelas vias ortico-subcorticais. Nos últimos anos tem crescido o interesse pelas manifestações psiquiátricas e cognitivas da distonia (estas últimas muito pouco estudadas). Tem despertado particular interesse a possível associação entre distonia focal primária e perturbação obsessivo-compulsiva (POC), cuja neurobiologia parece notavelmente sobreponível à da distonia primária. Com efeito, os estudos de neuro-imagem estrutural e funcional na POC revelam consistentemente aumento do volume e actividade do estriado e do córtex órbito-frontal, apontando mais uma vez para uma disfunção do controlo inibitório, no estriado, de programas comportamentais e cognitivos automáticos. Objectivos: 1. Explorar a prevalência e intensidade de psicopatologia em geral, e de psicopatologia obsessivo-compulsiva em particular, numa amostra de indivíduos com distonia focal primária; 2. Explorar a ocorrência, natureza e intensidade de alterações do funcionamento cognitivo numa amostra de indivíduos com distonia focal primária; 3. Investigar a associação entre a gravidade da distonia focal, a intensidade da psicopatologia, e a intensidade das alterações cognitivas. Metodologia: Estudo de tipo transversal, caso-controlo, observacional e descritivo, com objectivos puramente exploratórios. Casos: 45 indivíduos com distonia focal primária (15 casos de blefaroespasmo, 15 de cãibra do escrivão, 15 de distonia cervical espasmódica), recrutados através da Associação Portuguesa de Distonia. Critérios de inclusão: idade = 18; distonia focal primária pura (excluindo casos de distonia psicogénica possível ou provável de acordo com os critérios de Fahn e Williams); Metabolismo do cobre e Ressonância Magnética Nuclear sem alterações. Controlos doentes: 46 casos consecutivos recrutados a partir da consulta externa do Hospital Egas Moniz: 15 doentes com espasmo hemifacial, 14 com espondilartropatia cervical, 17 com síndrome do canal cárpico. Controlos saudáveis: 30 voluntários. Critérios de exclusão para todos os grupos: Mini-Mental State Examination patológico, tratamento actual com anti-colinérgicos, antipsicóticos, inibidores selectivos da recaptação da serotonina, antidepressivos tri- ou tetracíclicos. Avaliação: Avaliação neurológica: história e exame médico e neurológico completos. Cotação da gravidade da distonia com a Unified Dystonia Rating Scale. Avaliação psicopatológica: Symptom Check-List-90-Revised; entrevista psiquiátrica de 60 minutos incluindo a Mini-International Neuropsychiatric Interview (MINI), versão 4.4 (validada em Português), complementada com os módulos da MINI Plus versão 5.0.0 para depressão ao longo da vida e dependência/ abuso do álcool e outras substâncias ao longo da vida; Yale-Brown Obsessive-Compulsive Symptom Checklist e a Yale-Brown Obsessive-Compulsive Scale (Y-BOCS). Avaliação neuropsicológica: Wisconsin Card Sorting Test (WCST; flexibilidade cognitiva); Teste de Stroop (inibição de resposta); Block Assembly Test (capacidade visuo-construtiva); Teste de Retenção Visual de Benton (memória de trabalho visuo-espacial). Análise estatística:os dados foram analisados com a aplicação informática SPSS for Windows, versão 13. Para a comparação de proporções utilizaram-se o teste do Chi-quadrado e o teste de Fisher. Para a comparação de variáveis quantitativas entre dois grupos utilizou-se o teste t de Student ou o teste U de Mann-Whitney (teste de Wilcoxon no caso de amostras emparelhadas). Para comparações de médias entre três grupos recorreu-se à Análise de Variância a um factor (variáveis de intervalo e de rácio), ou ao teste de Kruskal-Wallis (variáveis ordinais). Para o estudo da associação entre variáveis foram utilizados os coeficientes de correlação de Pearson ou de Spearman, a análise de correlações canónicas, a análise de trajectórias e a regressão logística. Adoptou-se um Alpha de 0.05. Resultados: Os doentes com distonia focal primária apresentaram uma pontuação média na Y- -BOCS significativamente superior à dos dois grupos de controlo. Em 24.4% dos doentes com distonia a pontuação na Y-BOCS foi superior a 16. Estes doentes eram predominantemente mulheres, tinham uma maior duração média da doença e referiam predominantemente sintomas obsessivo-compulsivos (SOC) de contaminação e lavagem. Os dois grupos com doença crónica apresentaram pontuações médias superiores às dos indivíduos saudáveis nas escalas de ansiedade, somatização e psicopatologia geral. Os doentes com distonia tratados com toxina botulínica apresentaram pontuações inferiores às dos doentes não tratados nas escalas de ansiedade generalizada, fobia, somatização e depressão, mas não na Y-BOCS. Sessenta por cento dos doentes com distonia apresentavam pelo menos um diagnóstico psiquiátrico actual ou pregresso. O risco de apresentar um diagnóstico psiquiátrico actual era menor nos doentes tratados com toxina botulínica, aumentando com a gravidade da doença. A prevalência de POC foi 8,3% e a de depressão major 37,7%. No WCST e na Prova de Benton, os doentes com distonia focal primária demonstraram um desempenho inferior ao de ambos os grupos de controlo, cometendo sobretudo erros perseverativos. Os doentes com distonia e pontuação na Y-BOCS > 16 cometeram mais erros e respostas perseverativas no WCST do que os restantes doentes com distonia. As análises de correlações e de trajectórias revelaram que nos doentes com distonia a gravidade da distonia foi, juntamente com a idade e a escolaridade, o factor que mais interagiu com o desempenho cognitivo. Discussão: o nosso estudo é o primeiro a descrever, nos mesmos doentes com distonia focal primária, SOC significativos e alterações cognitivas. Os nossos resultados confirmam a hipótese de uma associação clínica específica entre distonia focal primária e psicopatologia obsessivo-compulsiva. Confirmam igualmente que a distonia focal primária está associada a um maior risco de desenvolver morbilidade psiquiátrica ansiosa e depressiva. O tratamento com toxina botulínica reduz este risco, mas não influencia os SOC. Entre os doentes com distonia, os que têm SOC significativos poderão diconstituir um grupo particular com maior duração da doença (mas não uma maior gravidade), predomínio do sexo feminino e predomínio de SOC de contaminação e limpeza. Em termos cognitivos, os indivíduos com distonia focal primária apresentam défices significativos de flexibilidade cognitiva (particularmente acentuados nos doentes com SOC significativos) e de memória de trabalho visuo-espacial. Estes últimos devem-se essencialmente a um défice executivo e não a uma incapacidade visuo-construtiva ou visuo-perceptiva. A disfunção cognitiva não é explicável pela psicopatologia depressiva nem pela incapacidade motora, já que os controlos com doença periférica crónica tiveram um desempenho superior ao dos doentes com distonia. No seu conjunto os nossos resultados sugerem que os SOC que ocorrem na distonia focal primária constituem uma das manifestações clínicas da neurobiologia desta doença do movimento. O predomínio de sintomas relacionados com higiene e o perfil disexecutivo de alterações cognitivas–perseveração e dificuldades executivas de memória de trabalho visuo-espacial – apontam para a via cortico-basal dorso-lateral e para as áreas corticais que lhe estão associadas como estando implicadas na tripla associação entre sintomas motores, obsessivo-compulsivos e cognitivos. Conclusões: A distonia focal primária é um síndrome neuropsiquiátrico complexo com importantes manifestações não motoras, nomeadamente compromisso cognitivo do tipo disexecutivo e sintomas obsessivo-compulsivos. Clinicamente estas manifestações representam necessidades de tratamento que vão muito para além da simples incapacidade motora, devendo ser activamente exploradas e tratadas.-------------- ABSTRACT: Introduction: primary focal dystonia is an idiopathic movement disorder that manifests as involuntary, sustained contraction of muscular groups, leading to abnormal and often painful postures of the affected body part. Treatment is symptomatic, usually with local intramuscular injections of botulinum toxin. The neurobiology of primary focal dystonia remains unclear. Structural and functional neuroimaging studies have revealed subtle changes in striatal and cortical-basal pathway anatomy and function. The most consistent findings involve increased volume and metabolic activity of the putamen and of motor, pre-motor and somato-sensitive cortical areas. As a whole, these changes have been interpreted as reflecting a failure of striatal inhibitory control over automatic motor programs sustained by cortical-basal pathways. The last years have witnessed an increasing interest for the possible non-motor – mainly psychiatric and cognitive – manifestations of primary focal dystonia. The possible association of primary focal dystonia with obsessive-compulsive disorder (OCD) has raised particular interest. The neurobiology of the two disorders has indeed remarkable similarities: structural and functional neuroimaging studies in OCD have revealed increased volume and metabolic activity of the striatum and orbital-frontal cortex, again pointing to a disruption of inhibitory control of automatic cognitive and behavioural programs by the striatum. Objectives: 1. To explore the prevalence and severity of psychopathology – with a special emphasis on obsessive-compulsive symptoms (OCS) – in a sample of patients with primary focal dystonia;2. To explore the nature and severity of possible cognitive dysfunction in a sample of patients with primary focal dystonia; 3. To explore the possible association between dystonia severity, psychiatric symptom severity, and cognitive performance, in a sample of patients with primary focal dystonia. Methods: cross-sectional, case-control, descriptive study. Cases: forty-five consecutive, primary pure focal dystonia patients recruited from the Portuguese Dystonia Association case register (fifteen patients with blepharospasm, 15 with cervical dystonia and 15 with writer’s cramp). Inclusion criteria were: age = 18; primary pure focal, late-onset dystonia (excluding possible or probable psychogenic dystonia according to the Fahn & Williams criteria); normal copper metabolism and Magnetic Resonance Imaging. Diseased controls: forty-six consecutive subjects from our hospital case register (15 patients with hemi-facial spasm; 14 with cervical spondilarthropathy and cervical spinal root compression; 17 with carpal tunnel syndrome). Healthy controls were 30 volunteers.Exclusion criteria for all groups: Mini-Mental State Examination score below the validated cut-off for the Portuguese population (<23 for education between 1 and 11 years; <28 for education >11 years); use of anti-cholinergics, neuroleptics, selective serotonin reuptake inhibitors, triciclic or tetraciclic antidepressants. Assessment: neurological assessment: complete medical and neurological history and physical examination; dystonia severity scoring with the Unified Dystonia Rating Scale. Psychiatric assessment:Symptom Check-List-90-Revised; 60 minute-long psychiatric interview, including Mini-International Neuropsychiatric Interview (MINI), version 4.4 (validated Portuguese version), extended with the sections for life-time major depressive disorder and life-time alcohol and substance abuse disorder from MINI-Plus version 5.0.0; Yale-Brown Obsessive-Compulsive Symptom Checklist and Yale-Brown Obsessive-Compulsive Scale (Y-BOCS). Cognitive assessment: Wisconsin Card Sorting Test (WCST; cognitive set-shifting ability); Stroop Test (response inhibition); Block Assembly Test(visual-constructive ability); Benton’s Visual Retention Test (visual-spatial working memory). Statistic analysis: Data were analyzed with SPSS for Windows version 13. Proportions were compared using Chi-Square test, or Fisher’s exact test when appropriate. Student’s t-test or Mann-Whitney’s U test (or Wilcoxon’s teste in the case of matched samples) were used for two-group comparisons. P-values were corrected for multiple comparisons. One-way ANOVA with Bonferroni post-hoc analysis (interval data), or the Kruskal-Wallis Test (ordinal data), were used for three-group comparisons. Associations were analysed with Pearson’s or Spearman’s correlation coefficients, canonical correlations, path analysis and logistic regression analysis. Alpha was set at 0.05. Results: Dystonia patients had higher Yale-Brown Obsessive-Compulsive Symptom scores than both control groups. 24.4% of primary dystonia patients had a Y-BOCS score > 16. These patients were predominantly women; they had longer disease duration, and showed a predominance of hygiene-related OCS. The two groups with chronic disease had higher anxiety, somatization and global psychopathology scores than healthy subjects. Primary dystonia patients undergoing treatment with botulinum toxin had lower anxiety, phobia, somatization and depression scores than their untreated counterparts, but similar Y-BOCS scores. Sixty percent of primary dystonia patients had at least one lifetime psychiatric diagnosis. The odds of having a currently active psychiatric diagnosis were lower in botulinum toxin treated patients, and increased with dystonia severity. The prevalence of OCD was 6.7%, and the lifetime prevalence of major depression was 37.7%. Primary dystonia patients had a lower performance than the two control groups in both the WCST and Benton’s Visual Retention Test, mainly due to an excess of perseveration errors. Primary dystonia patients with Y-BOCS score > 16 had much higher perseveration error and perseveration response scores than dystonia patients with Y-BOCS = 16. Correlation and path analysis showed that, in the primary dystonia group, dystonia severity, along with age and education, was the main factor influencing cognitive performance. Discussion: our study is the first description ever of concomitant significant OCS and cognitive impairment in primary dystonia patients. Our results confirm that primary dystonia is specifically associated with obsessive-compulsive psychopathology. They also confirm that primary focal dystonia patients are at a higher risk of developing anxious and depressive psychiatric morbidity. Treatment with botulinum toxin decreases this risk, but does not influence OCS. Primary focal dystonia patients with significant OCS may constitute a particular subgroup. They are predominantly women, with higher disease duration (but not severity) and a predominance of hygiene related OCS.In terms of cognitive performance, primary focal dystonia patients have significant deficits involving set-shifting ability and visual-spatial working memory. The latter result from an essentially executive deficit, rather than from a primary visual-constructive apraxia or perceptual deficit. Furthermore, cognitive flexibility difficulties were more prominent in the subset of primary dystonia patients with significant OCS. The cognitive dysfunction found in dystonia patients is not attributable to depressive psychopathology or motor disability, as their performance was significantly lower than that of similarly impaired diseased controls. Our results suggest that OCS in primary focal dystonia are a direct, primary manifestation of the motor disorder’s neurobiology. The predominance of hygiene-related symptoms and the disexecutive pattern of cognitive impairment – set-shifting and visual-spatial working memory deficits – suggest that the dorsal-lateral cortical-basal pathway may play a decisive role in the triple association of motor dysfunction, OCS and cognitive impairment. Conclusions: primary focal dystonia is a complex neuropsychiatric syndrome with significant non- -motor manifestations, namely cognitive executive deficits and obsessive-compulsive symptoms.Clinically, our results show that PFD patients may have needs for care that extend far beyond a merely motor disability and must be actively searched for and treated.
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Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.
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In addition to pain and neurovegetative symptoms, patients with severe forms of complex regional pain syndrome (CRPS) develop a broad range of symptoms, including sensory disturbances, motor impairment and dystonic posturing. While most patients respond to medical therapy, some are considered refractory and become surgical candidates. To date, the most commonly used surgical procedure for CRPS has been spinal cord stimulation. This therapy often leads to important analgesic effects, but no sensory or motor improvements. We report on 2 patients with pain related to CRPS and severe functional deficits treated with motor cortex stimulation (MCS) who not only had significant analgesic effects, but also improvements in sensory and motor symptoms. In the long term (27 and 36 months after surgery), visual analog scale pain scores were improved by 60-70% as compared to baseline. There was also a significant increase in the range of motion in the joints of the affected limbs and an improvement in allodynia, hyperpathia and hypoesthesia. Positron emission tomography scan in both subjects revealed that MCS influenced regions involved in the circuitry of pain. Copyright (C) 2011 S. Karger AG, Basel
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Background: Patients who play musical instruments (especially wind and stringed instruments) and vocalists are prone to particular types of orofacial problems. Some problems are caused by playing and some are the result of dental treatment. This paper proposes to give an insight into these problems and practical guidance to general practice dentists. Method: Information in this paper is gathered from studies published in dental, music and occupational health journals, and from discussions with career musicians and music teachers. Results: Orthodontic problems, soft tissue trauma, focal dystonia, denture retention, herpes labialis, dry mouth and temporomandibular joint (TMJ) disorders were identified as orofacial problems of career musicians. Options available for prevention and palliative treatment as well as instrument selection are suggested to overcome these problems. Conclusions: Career musicians express reluctance to attend dentists who are not sensitive to their specific needs. General practitioner dentists who understand how the instruments impact on the orofacial structures and are aware of potential problems faced by musicians are able to offer preventive advice and supportive treatment to these patients, especially those in the early stages of their career.
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The musicians are seen in daily neurological practice facing various problems sometimes simple such as skeletal or tendon pain or even compression of a nerve trunk and sometimes more complicated such as focal dystonia. Dystonia often has a dramatic impact on the career of a musician given the complexity of the clinical and therapeutic approach and the results are often disappointing. The history of the German Romantic composer Robert Schumann illustrates this reality; through his story a discussion of both the different pathophysiological hypotheses responsible for focal dystonia, a disorder of brain plasticity, and of the multimodal therapeutic approaches, revisited in the light of neurophysiological findings will be described.
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The treatment of writer's cramp, a task-specific focal hand dystonia, needs new approaches. A deficiency of inhibition in the motor cortex might cause writer's cramp. Transcranial direct current stimulation modulates cortical excitability and may provide a therapeutic alternative. In this randomized, double-blind, sham-controlled study, we investigated the efficacy of cathodal stimulation of the contralateral motor cortex in 3 sessions in 1 week. Assessment over a 2-week period included clinical scales, subjective ratings, kinematic handwriting analysis, and neurophysiological evaluation. Twelve patients with unilateral dystonic writer's cramp were investigated; 6 received transcranial direct current and 6 sham stimulation. Cathodal transcranial direct current stimulation had no favorable effects on clinical scales and failed to restore normal handwriting kinematics and cortical inhibition. Subjective worsening remained unexplained, leading to premature study termination. Repeated sessions of cathodal transcranial direct current stimulation of the motor cortex yielded no favorable results supporting a therapeutic potential in writer's cramp.
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Primary monogenic forms of dystonia manifest solely or mainly with dystonia; they have been linked to a number of genes and loci and assigned "DYT" numbers. The pure dystonia syndrome early-onset primary dystonia (DYT1) manifests with dominantly-inherited generalized dystonia, often with focal onset in a limb. DYT1 is caused by a GAG deletion in the TOR1A gene. Mutations in the THAP1 gene cause DYT6, a form of pure dystonia that primarily involves cranio-cervical and upper limb muscles. Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). Other forms of dystonia plus syndromes include myoclonic dystonia (DYT11) and rapid-onset dystonia-parkinsonism (DYT12). Finally, paroxysmal exertion-induced dystonia (DYT18, GLUT1 deficiency) is caused by mutations in the SLC2A1 gene (DYT9 and DYT18). It is part of the paroxysmal dystonia group and manifests with paroxystic movements sometimes associated with seizures and psychomotor developmental delay.
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During the last decade, many studies have been carried out to understand the effects of focal vibratory stimuli at various levels of the central nervous system and to study pathophysiological mechanisms of neurological disorders as well as the therapeutic effects of focal vibration in neurorehabilitation. This review aimed to describe the effects of focal vibratory stimuli in neurorehabilitation including the neurological diseases or disorders like stroke, spinal cord injury, multiple sclerosis, Parkinson's' disease and dystonia. In conclusion, focal vibration stimulation is well tolerated, effective and easy to use, and it could be used to reduce spasticity, to promote motor activity and motor learning within a functional activity, even in gait training, independent from etiology of neurological pathology. Further studies are needed in the future well- designed trials with bigger sample size to determine the most effective frequency, amplitude and duration of vibration application in the neurorehabilitation.
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BACKGROUND: Dystonia is a heterogenous group of movement disorders whose clinical spectrum is very wide. At least 13 different genes and gene loci have been reported. While a 3-bp deletion in the DYT1 gene is the most frequent cause of early limb-onset, generalized dystonia, it has also been found in non-generalized forms of sporadic dystonia. An 18-bp deletion in the DYT1 gene has also been reported. OBJECTIVES: We screened for the 3-bp and 18-bp deletions in the DYT1 gene among our sporadic, adult-onset primary dystonia patients in Singapore. We reviewed the literature to compare the frequency of DYT1 mutation between the East and the West. METHODS: We screened 54 patients with primary dystonia (focal: n=41; segmental: n=11; multifocal: n=1; generalized: n=1) for the deletions in the DYT1 gene. A careful review of all published literature on DYT1 screening among sporadic, non-familial, non-Ashkenazi Jewish patients was done. RESULTS: We did not detect any mutations in the exon 5 of the DYT1 gene in any of our patients. The frequency of DYT1 mutation amongst Asians (1.0%) was comparable to the West (1.56%) (p=NS). CONCLUSIONS: DYT1 mutations are uncommon amongst adult primary dystonia patients in Singapore.
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Understanding the molecular mechanisms of oral carcinogenesis will yield important advances in diagnostics, prognostics, effective treatment, and outcome of oral cancer. Hence, in this study we have investigated the proteomic and peptidomic profiles by combining an orthotopic murine model of oral squamous cell carcinoma (OSCC), mass spectrometry-based proteomics and biological network analysis. Our results indicated the up-regulation of proteins involved in actin cytoskeleton organization and cell-cell junction assembly events and their expression was validated in human OSCC tissues. In addition, the functional relevance of talin-1 in OSCC adhesion, migration and invasion was demonstrated. Taken together, this study identified specific processes deregulated in oral cancer and provided novel refined OSCC-targeting molecules.
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An unusual presentation of a focal osteoporotic bone marrow defect (FOBMD) of the mandible mimicking a cystic lesion is documented. A definitive diagnosis could be established only on the basis of the histopathologic evaluation. A 66-year-old Brazilian woman was referred by her dentist for well-defined radiolucency of the mandibular molar region suggesting a cystic lesion of odontogenic origin. The computed tomography scan confirmed that the lesion did not affect the corticals. The biopsy confirmed the diagnosis of FOBMD. The diagnostic difficulty in the current case is obvious, because FOBMD, usually exhibiting an ill-defined radiolucency, is seldom suspected preoperatively when a differential diagnosis is considered for focal well-defined radiolucent areas in the jaws.
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Primary craniocervical dystonia (CCD) is generally attributed to functional abnormalities in the cortico-striato-pallido-thalamocortical loops, but cerebellar pathways have also been implicated in neuroimaging studies. Hence, our purpose was to perform a volumetric evaluation of the infratentorial structures in CCD. We compared 35 DYT1/DYT6 negative patients with CCD and 35 healthy controls. Cerebellar volume was evaluated using manual volumetry (DISPLAY software) and infratentorial volume by voxel based morphometry of gray matter (GM) segments derived from T1 weighted 3 T MRI using the SUIT tool (SPM8/Dartel). We used t-tests to compare infratentorial volumes between groups. Cerebellar volume was (1.14 ± 0.17) × 10(2) cm(3) for controls and (1.13 ± 0.14) × 10(2) cm(3) for patients; p = 0.74. VBM demonstrated GM increase in the left I-IV cerebellar lobules and GM decrease in the left lobules VI and Crus I and in the right lobules VI, Crus I and VIIIb. In a secondary analysis, VBM demonstrated GM increase also in the brainstem, mostly in the pons. While gray matter increase is observed in the anterior lobe of the cerebellum and in the brainstem, the atrophy is concentrated in the posterior lobe of the cerebellum, demonstrating a differential pattern of infratentorial involvement in CCD. This study shows subtle structural abnormalities of the cerebellum and brainstem in primary CCD.
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Focal cryoablation (FC), brachytherapy (B) and active surveillance (AS) were offered to patients diagnosed with very low-risk prostate cancer (VLRPC) in an equal access protocol. Comprehensive validated self-report questionnaires accessed patients' erectile (IIEF-5) and voiding (IPSS) functions, Beck scales measured anxiety (BAI), hopelessness (BHS) and depression (BDI), SF-36 reflected patients' quality of life added to the emotional thermometers including five visual analogue scales (distress, anxiety, depression, anger and need for help). Kruskal-Wallis or ANOVA tests and Spearman's correlations were obtained among groups and studied variables. Thirty patients were included, median follow-up 18 months (15-21). Those on AS (n = 11) were older, presented higher hopelessness (BHS) and lower general health perceptions (SF-36) scores than patients opting for FC (n = 10) and B (n = 9), P = 0.0014, P = 0.0268 and P = 0.0168 respectively. Patients on B had higher IPSS scores compared to those under FC and AC, P = 0.0223. For all 30 included patients, Spearman's correlation (rs ) was very strong between BHS and general health perceptions (rs = -0.800, P < 0.0001), and weak/moderate between age and BHS (rs = 0.405, P = 0.026) and age and general health perceptions (rs = -0.564, P = 0.001). The sample power was >60%. To be considered in patients' counselling and care, current study supports the hypothesis that even VLRPC when untreated undermines psychosocial domains.