Identificação das alterações de deglutição: percepção de pacientes com doenças neurodegenerativas / Identification of swallowing disorders: the perception of patients with neurodegenerative diseases

RESUMO Objetivo Verificar a percepção de indivíduos com doenças neurodegenerativas quanto às alterações de deglutição, e conhecer as sensações ao deglutir que podem favorecer a identificação precoce de disfagia. Método Trata-se de um estudo transversal com 44 sujeitos com doenças neurodegenerativas. Todos responderam a um questionário para investigação da sensação percebida ao deglutir e mensuração da intensidade da sensação. Foram questionados quanto à presença de fadiga por meio da Fatigue Severity Scale. Para detecção de queixas de deglutição, foi utilizada a versão traduzida e adaptada para o português brasileiro do Swallowing Disturbance Questionaire. A Funcional Oral Intake Scale foi utilizada para classificar o nível de ingestão oral. Realizou-se videofluoroscopia da deglutição para verificar a correspondência entre a percepção dos participantes e a fisiopatologia da deglutição. Foi realizada análise estatística descritiva e exploratória. Resultados Houve correspondência entre os achados da videofluoroscopia e a percepção dos sujeitos em 76,5% casos. Sensações como desconforto, cansaço e incômodo foram percebidas ao engolir, especialmente, na consistência sólida. Tais sensações foram referidas, predominantemente, na região da garganta, da metade para o final das refeições. Houve associação entre fadiga durante a alimentação e odinofagia. A fadiga durante a deglutição foi associada à pior funcionalidade oral. Conclusão A maioria dos participantes percebeu as alterações presentes em sua deglutição. Sensações como ardor, desconforto, incômodo, cansaço, dor, câimbra ou irritação foram referidas pelos participantes e se mostraram associadas com sinais e sintomas que sugerem risco de aspiração laringotraqueal, especialmente, devido à fadiga muscular decorrente de fraqueza, incoordenação e/ou rigidez da musculatura.

ABSTRACT Purpose To verify the perception of patients with neurodegenerative diseases regarding swallowing changes and to know the perceptions of swallowing sensations that can promote the early identification of dysphagia. Methods It is a cross-sectional study with 44 patients with neurodegenerative diseases. All of them answered a questionnaire to know the sensation perceived during swallowing and its intensity. The Fatigue Severity Scale was applied to measure fatigue and the Swallowing Disturbance Questionnaire was applied to detect swallowing complaints. The Functional Oral Intake Scale was used to classify the swallowing functionality. Videofluoroscopic swallowing study (VFSS) was performed to verify the correspondence between the patient's perceptions and swallowing physiopathology. A descriptive and exploratory statistical analysis was performed. Results There was correspondence between VFSS findings and the patient's perception in 76.5% of the cases. Sensations such as discomfort and fatigue were perceived during swallowing, especially with solids. Such feelings have predominantly been reported in the throat, from the half to the end of the meal. There was association between fatigue and odynophagia. Fatigue during swallowing was associated with worse functionality of oral intake. Conclusion Most participants perceived the disorders in their swallowing. Sensations such as burning, discomfort, tiredness, pain, cramp, or irritation were perceived by participants and were associated with symptoms that may suggest risk of aspiration due to fatigue resulting from weakness, incoordination, and/or stiffness of muscles.

Enfermedad de Wilson rápidamente evolutiva y con presentación inusual / Wilson’s disease with unusual presentation and rapid evolution

Presentamos el caso de un paciente con enfermedad de Wilson que tuvo un comportamiento poco habitual. Previoa la aparición de las manifestaciones neurológicas, tuvo tos como único síntoma, sospechándose una discinesiarespiratoria como forma de presentación. La forma clínica de su enfermedad fue de tipo neurológico puro y sin evidencias de compromiso hepático. No hubo una respuesta satisfactoria al tratamiento instituido y la evolución fue rápida y fatal en poco tiempo.

We present a case of Wilson’s disease with an unusual course. Before the onset of neurological manifestations, cough was the only symptom, suggesting a respiratory dyskinesia as the form of presentation. The disease took a purely neurological type, without signs of hepatic compromise. There was no response to medical treatment, and the evolution was rapid and fatal.

Gray and White Matter Degenerations in Subjective Memory Impairment: Comparisons with Normal Controls and Mild Cognitive Impairment

Subjective memory impairment (SMI) is now increasingly recognized as a risk factor of progression to dementia. This study investigated gray and white matter changes in the brains of SMI patients compared with normal controls and mild cognitive impairment (MCI) patients. We recruited 28 normal controls, 28 subjects with SMI, and 29 patients with MCI aged 60 or older. We analyzed gray and white matter changes using a voxel-based morphometry (VBM), hippocampal volumetry and regions of interest in diffusion tensor imaging (DTI). DTI parameters of corpus callosum and cingulum in SMI showed more white matter changes compared with those in normal controls, they were similar to those in MCI except in the hippocampus, which showed more degenerations in MCI. In VBM, SMI showed atrophy in the frontal, temporal, and parietal lobes compared with normal controls although it was not as extensive as that in MCI. Patients with SMI showed gray and white matter degenerations, the changes were distinct in white matter structures. SMI might be the first presenting symptom within the Alzheimer's disease continuum when combined with additional risk factors and neurodegenerative changes.

Dysfunctions of the stomatognathic system and vocal aspects in Fahr disease: case report / Disfunções do sistema estomatognático e aspectos vocais na doença de Fahr: relato de caso

The aim of this study is to report the case of a patient with Fahr's Disease in order to describe the main stomatognathic and vocal changes that can be found in individuals with this disease. In order to establish the diagnosis, an assessment of the conditions of orofacial motor system and speech production, as well the efficiency of swallowing, was realized. Based on these assessments, there were difficulties in coordinating and sustaining muscle during speech and presence of oropharyngeal dysphagia. Speech disorders found in Fahr's disease manifest themselves in complex and cover various aspects of phonological knowledge and the diseases that affect the basal ganglia have similar frames of speech-language disorders of the stomatognathic system, being able to present a picture of dysarthria.

O objetivo deste estudo consiste em relatar o caso de uma paciente com Doença de Fahr buscando descrever as principais alterações estomatognáticas e vocais que podem ser encontradas em indivíduos com essa doença. A fim de estabelecer o diagnóstico fonoaudiológico, foi realizada avaliação das condições motoras orofaciais e produção da fala, além de eficiência da deglutição. Com base nessas avaliações, observaram-se dificuldades na coordenação e na sustentação muscular durante a fala e presença de disfagia orofaríngea. Os achados fonoaudiológicos na Doença de Fahr manifestam-se de forma complexa, incluindo disfagias e disartria e as doenças que acometem os núcleos da base apresentam quadros semelhantes de alterações fonoaudiológicas do sistema estomatognático, podendo apresentar quadro de disartria.

Manifestaciones neuroftalmológicas en la enfermedad de Parkinson / Neurophthalmologic manifestations of Parkinson´s disease

La enfermedad de Parkinson es un desorden neurodegenerativo progresivo provocado por un déficit de dopamina que desencadena importantes alteraciones motoras y no motoras. Dentro de estas, un considerable grupo constituye motivo de interés para el neuroftalmólogo. La enfermedad ha sido siempre más reconocida por sus alteraciones motoras. El objetivo fundamental de esta revisión es hacer énfasis en el diagnóstico de las afectaciones visuales en la enfermedad de Parkinson y de esta forma mejorar en lo posible la calidad de vida de los pacientes. Se realizó una amplia búsqueda en PUBMED y se revisaron 60 artículos relacionados con el tema, publicados entre los años 1984 y 2012

Parkinson's disease is a progressive neurodegenerative disorder caused by a dopamine deficit that triggers important motor and non-motor alterations. A large group of them attracts the interest of the neurophthalmologists. This disease has always been more recognized by its motor alterations. The main objective of this review was to make emphasis on the diagnosis of visual disorders in Parkinson's disease patients and thus to improve their quality of life. An extensive search was made in PUBMED where 60 articles on this topic, published from 1984 to 2012, were reviewed

Detección de ADN de Chlamydophila Pneumoniae en líquido cefalorraquídeo proveniente de pacientes diagnósticados con enfermedad de alzheimer / DNA detection of chlamydophila Pneumoniae in cerebrospinal fluid of patients diagnosed with alzheimer disease

La enfermedad de alzheimer (EA) es un desorden neurodegenerativo y la isoforma 4 de apolipoproteína E (ApoE) es mundialmente aceptada como un factor de riesgo para el desarrollo de alzheimer esporádico. La EA se ha asociado con infecciones por Chlamydophila pneumoniae (ChP) debido a que inhibe la respuesta inmune del huésped generando infecciones crónicas. El objetivo fue detectar el ADN de ChP en líquido cefalorraquídeo (LCR) de pacientes con diagnóstico clínico de alzheimer provenientes de distrito metropolitano de caracas. Se analizaron (7) muestras de LCR de pacientes con diagnóstico clínico de EA y el grupo control estuvo constituido por (13) muestras de LCR de pacientes con otras enfermedades neurológicas (OND) no demencia. A los cuales se les determino la isoforma de ApoE, se amplificaron los genes para OmcA y 16Sribosomal de ChP. La frecuencia de apoE isoforma 4 en los pacientes con EA fue (0,57) en contrste con el grupo control donde la frecuencia fue de (0,31). En todas las mustras analizadas se obtuvo una ausencia de la banda correspondiente a Chlamydophila pneumoniae. La mayor probabilidad es que la bacteria no se encontrara en el LCR de los pacientes. Pero existe la posibilidad de que ADN de ChP no estuviese en suficiente cantidad como para ser detectado por las técnicas empleadas. Además, debemos considerar que el protocolo de extracción es un punto crítico. Finalmente, los pacientes con diagnóstico clínico de EA y en particular del género femenino tienen mayor frecuencia de tener una copia de ApoE isoforma 4 en su genotipo.

Alzheimer's disease (AD) is a neurodegenerative disorder and the isoform 4 of apoliporotein E (ApoE) is world accepted as a risk factor for developing sporadic alzheimer. The AD has been associated with infections by Chlamydophila pneumoniae (ChP) because it inhibits the host immune response causing chroic infections. To detected ChP DNA in cerebrospinal fluid (CSF) of patients with clinical diagnosis lf alzheimer's from the metropolitan district of caracas. We analyzed (7) CSF samples from patients with clinical diagnsis of AD and control groups consisted of (13) CSF samples from patientes with other neurological diseases (OND) no dementia. To with the determined the isoform of ApoE genes were amplified for OmcA and 16Sribosomal of ChP. The frecuency of ApoE isoform 4 in AD patients was (0.57) in contrast to the control group where the frequency was (0.31). All samples were obtained an absence of the band corresponding to Chlamydophila pneumoniae. The greater likelihood is that the bacteria is not found in the CSF of patients. But there is the possibility that DNA was no ChP insufficient quantity to be detected by the techniques employed. Furthermore, we most consider the extraction protocol is a critical point. Finally, patients with clinical diagnosis of Ad and in particular the female are more often have a copy of ApoE isoform 4 in its genotype.

Cardiac Autonomic Neuropathy as a Predictor of Deterioration of the Renal Function in Normoalbuminuric, Normotensive Patients with Type 2 Diabetes Mellitus

Our study was performed to determine whether cardiac autonomic neuropathy can predict deterioration of the renal function in normoalbuminuric, normotensive people with type 2 diabetes mellitus (DM). One hundred and fifty-six normoalbuminuric, normotensive people with type 2 DM were included in our retrospective longitudinal study. We categorized normal patterns, early patterns, and definite or severe patterns according to the results of the cardiac autonomic function test. Of 156 patients included, 54 had normal patterns, 75 had early patterns, 25 had definite or severe patterns, and 2 had atypical patterns. During a median follow-up of nine years, glomerular filtration rates (GFR) remained stable in the normal and early pattern groups (mean changes, 4.50% and 0.77%, respectively) but declined in those with definite or severe patterns (mean change, -10.28%; p=0.047). An abnormal heart response to the deep breathing test of the cardiac autonomic function tests was an independent predictor of GFR decline. Our data suggest that cardiac autonomic neuropathy, especially with a definite or severe pattern, might be associated with a subsequent deterioration in renal function in normoalbuminuric, normotensive people with type 2 DM.

Novos conceitos em retinopatia diabética: dano neurológico versus dano vascular / New concepts on diabetic retinopathy: neural versus vascular damage

A retinopatia diabética é a principal causa de cegueira legal irreversível em adultos na idade produtiva. Estima-se que o número de pessoas com risco de desenvolver perda de visão decorrente do diabetes dobre nos próximos 30 anos. Alguns estudos sugerem que alterações neurodegenerativas ocorram antes do comprometimento vascular. Essas alterações incluem aumento da apoptose neural, reatividade de células gliais, ativação microglial e metabolismo alterado do glutamato, e podem explicar algumas das deficiências funcionais que ocorrem logo após o início do diabetes, como alterações precoces no eletrorretinograma. O presente artigo de revisão visa apresentar evidências atuais que apontem a neurodegeneração como possível evento inicial da retinopatia diabética.

Diabetic retinopathy is the leading cause of irreversible legal blindness in working-age adults. The number of people worldwide at risk of developing vision loss from diabetes is predicted to double over the next 30 years. Some elements suggest that neurodegenerative changes occur beyond vascular damage. These changes include increased apoptosis, glial cell reactivity, microglial activation, and altered glutamate metabolism, and could explain some of the functional abnormalities that begin soon after the onset of diabetes, as early changes in electroretinogram. This review article will present some evidences that point out neurodegeneration as a possible initial event in diabetic retinopathy.

Cerebellar degeneration and immune thrombocytopenic purpura associated with human immunodefi ciency virus infection (HIV)

Cerebellar disorders associated with HIV infection are usually caused by opportunistic infections, central nervous system lymphoma, and toxic effects of medicines, nutritional and metabolic disorders, and cerebrovascular disease. We present an unusual association of cerebellar degeneration and immune thrombocytopenic purpura in a 28-years-old woman HIV infected. An autoimmune aetiology is likely.

Transtornos cerebelares associados a infecção pelo HIV são comumente causados por infecções oportunistas, linfoma do sistema nervoso central, efeitos tóxicos de medicamentos anti-retrovirais, alterações metabólicas e nutricionais, e doença cerebrovascular. Apresentamos um caso incomum de associação de degeneração cerebelar e púrpura trombocitopênica imunológica em um mulher de 28 anos infectada pelo HIV. Discutimos uma possível etiologia autoimune para justificar o quadro.

Co-occurrence of radiological features of progressive supranuclear palsy and corticobasal degeneration.

We report an interesting case demonstrating co-occurrence of radiological features of progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). The clinical features were typical of PSP but magnetic resonance imaging (MRI) showed both typical brainstem changes of PSP and an atypical pattern of cortical atrophy. While the MRI had markers of CBD, the clinical features were not classical of CBD.

Mecanismos de muerte celular en las enfermedades neurodegenerativas: ¿apoptosis o necrosis? / Mechanisms of cell death in neurodegenerative diseases: apoptosis or necrosis?

Introducción. La apoptosis es un proceso esencial durante el desarrollo del sistema nervioso; el que además parece participar en el origen o la progresión de las enfermedades neurodegenerativas. Sin embargo, frente a un daño extremo, las células sufren necrosis, otro mecanismo de muerte, que también es crucial en el daño que las enfermedades y lesiones infringen al sistema nervioso. Métodos. Se revisan los mecanismos celulares y moleculares asociados a la muerte celular; los que pueden proveer herramientas para prevenir la neurodegeneración. Se discuten los mecanismos asociados a la apoptosis y necrosis en la patología del SNC. Resultados. Los mecanismos envueltos tanto en la apoptosis como en la necrosis son altamente conservados. Muchos de los factores envueltos en la protección frente al daño participan en la homeostasis del sistema nervioso y se expresan ampliamente en el sistema nervioso durante el desarrollo y en las etapas adultas; también tienen efectos neuroprotectores después del daño neuronal. Conclusiones. En contraste a los mecanismos de apoptosis, que evolucionarían específicamente para orquestarla, los mecanismos de necrosis corresponden a la desestabilización de funciones celulares normales frente a circunstancias extremas, con consecuencias devastadoras para las células. Un papel neuroprotector amplio probablemente es fundamental para muchos de los factores protectores descritos, como serían los factores de crecimiento, cuyo potencial terapéutico para los desórdenes del sistema nervioso podría ser mayor que el pensado hasta el momento, cambiando tanto la prevención como el tratamiento de muchas enfermedades del SNC.

Parkinsonism plus syndrome--a review.

Parkinsonism plus syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis. Associated clinical features include symmetrical onset, infrequent or atypical tremor, prominent rigidity in axial musculature, bradykinesia, early postural instability, supranuclear gaze palsy, early autonomic failure, pyramidal affection, cerebellar involvement, alien limb phenomenon, apraxia and significant early cognitive dysfunction in some cases. Progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and dementia with Lewy body disease (DLB) are commoner disorders. Less frequent disorders are cortico-basal ganglionic degeneration (CBGD), frontotemporal dementia with chromosome 17 (FTDP-17), Pick's disease, parkinsonian-dementia complex of Guam, Pallidonigral degeneration, Wilson's disease and a rigid variant of Huntington's disease. During the last 3 decades, major progress has been made in understanding PSP, CBGD and FTDP-17, which are tau disorders. MSA and DLB together with idiopathic Parkinson's disease are called alpha-synucleinopathies. Recent studies show that the diagnosis of these Parkinsonism plus syndromes improves when strict diagnostic criteria are used. However, unusual presentations may pose a diagnostic challenge. The shortcomings of the current studies demand the need for further research to identify biologic markers that may allow earlier diagnosis, and understanding of the factors leading to alpha-synuclein or tau aggregation. Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed. This review focuses on the advances in the clinical, neuroimaging, pathologic, genetic and management aspects of these disorders.

Involuntary hand levitation associated with parietal damage: another alien hand syndrome

The alien hand syndrome (AHS) usually consists of an autonomous motor activity perceived as an involuntary and purposeful movement, with a feeling of foreignness of the involved limb, commonly associated with a failure to recognise ownership of the limb in the absence of visual clues. It has been described in association to lesions of the frontal lobes and corpus callosum. However, parietal damage can promote an involuntary, but purposeless, hand levitation, which, sometimes, resembles AHS. In the present study, four patients (cortico-basal ganglionic degeneration -- n=2; Alzheimer's disease -- n=1 and parietal stroke -- n=1) who developed alien hand motor behaviour and whose CT, MRI and/or SPECT have disclosed a major contralateral parietal damage or dysfunction are described. These results reinforce the idea that parietal lobe lesions may also play a role in some patients with purposeless involuntary limb levitation, which is different from the classic forms of AHS

Topodiagnóstico nas síndromes vestibulares centrais / Topodiagnosis in the central vestibular syndromes

A vectoeletronistagmografia (VENG) e otoneurologia clínica têm um ponto que deve ser sempre enfatizado: nenhum sinal clínico isolado tem um valor definitivo na localização da lesão. Por outro lado, a avaliação clínica do paciente junto com a audiometria de tronco cerebral (BERA), associada ao exame radiológico por imagem, ainda são as formas mais confiáveis de localizar uma lesão neurológica nas vias auditivas. No presente trabalho, avaliamos 05 indivíduos com diagnóstico de degeneração cerebelar autossômica dominante (ACAD), associadas ou não a lesão em tronco cerebral e vias supratentoriais. Os achados dos exames eletrofisiológicos (VENG e BERA), por imagem e estadiamento clínico são discutidos frente às várias síndromes labirínticas centrais. A tomografia computadorizada (TC) de crânio e a VENG mostraram-se alteradas em todos os pacientes, e o BERA mostrou-se alterado apenas nos pacientes com lesões do tronco. Pudemos observar vários sinais otoneurológicos como disritmia, decrutamento, dissociação cócleo-vestibular e rastreio tipo IV, entre outros. Concluímos que, apesar do estadiamento clínico BERA e TC serem mais precisos na localização da lesão, a VENG mostra alterações funcionais vestibulares centrais não identificadas na TC e bem mais precoces que o BERA, estando já presentes tanto nas doenças cerebelares isoladas como do tronco cerebral e vias supratentoriais.

Hipótesis del neurodesarrollo anormal en la esquizofrenia / The abnormal neurodevelopmental hypothesis of schizophrenia

La hipótesis del neurodesarrollo en la esquizofrenia establece que la enfermedad está asociada con un desarrollo cerebral anormal. Este defecto predispone a un tipo de disfunción cerebral característico en el comienzo de la vida adulta y a la sintomatología clínica reconocible de la enfermedad. Las evidencias de un neurodesarrollo patológico en la esquizofrenia proviene de los estudios por neuroimágenes, de estudios histológicos de necropsias, de anormalidades neurofuncionales premórbidas y de noxas durante la vida intrauterina en pacientes esquizofrénicos