RESUMO
BACKGROUND: Olfactory dysfunction is a non-motor symptom and an important biomarker of Parkinson's disease (PD) because of its high prevalence (> 90%). Whether hyposmia correlates with motor symptoms is unclear. In the present study, we aim to investigate the relationship between olfactory impairment with both motor and non-motor features and disease variables (disease duration, stage, and severity). METHODS: One-hundred fifty-four PD patients were evaluated. Odor identification ability was tested using Italian Olfactory Identification Test (IOIT). A comprehensive spectrum of motor and non-motor features was assessed. Cognitive function was investigated through MMSE. Patients were divided into 3 different clinical phenotypes using UPDRS-III: tremor-dominant type (TDT), akinetic-rigid type (ART), and mixed type (MXT). RESULTS: Three of the 33 IOIT items were most frequently misidentified: basil (74.3%), coffee (66.9%), and mushroom (59.6%). Hyposmia was found in 93%. Hyposmic patients were older than controls (p = 0.01). Hoehn & Yahr (H&Y) score of 2 or greater was associated with higher probability of being hyposmic (OR = 5.2, p = 0.01). IOIT score did not significantly differ between TDT, ART, and MXT of analyzed PD patients. Performance to IOIT inversely correlated with age (p < 0.01), disease duration (p = 0.01), and H&Y score of 2 or higher (p < 0.01). Clinical features that associated with higher IOIT score were freezing of gait (FOG) (p < 0.001) and camptocormia (p < 0.05). CONCLUSIONS: In our cohort, IOIT scores showed a positive correlation with axial motor signs, but not with non-motor symptoms. IOIT may be a useful tool not only for supporting PD diagnosis but also for providing prognostic information about motor function.
Assuntos
Transtornos Neurológicos da Marcha , Doença de Parkinson , Humanos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Doença de Parkinson/fisiopatologia , Masculino , Feminino , Idoso , Itália/epidemiologia , Pessoa de Meia-Idade , Transtornos Neurológicos da Marcha/diagnóstico , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Anosmia/etiologia , Anosmia/diagnóstico , Anosmia/fisiopatologia , Transtornos do Olfato/etiologia , Transtornos do Olfato/diagnóstico , Transtornos do Olfato/fisiopatologia , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Reducing percutaneous endoscopic gastrostomies with jejunal extension tubes (PEG-J) related complications is vital to the long-term preservation of duodenal levodopa infusion (DLI) in advanced Parkinson's disease (APD). Here, we provide data on the frequency of complications for both the standard "pull" and the non-endoscopic, radiologic assisted, "push" replacement PEG-J techniques in APD. METHODS: We retrospectively identified all patients treated with DLI from October 2009 to January 2020 at the Movement Disorders Center. Patients features and demographics, PEG-J procedures, causes for any discontinuation, reported complications and mortality were collected. In this cohort, PEG-J replacements were performed using the standard "pull" procedure or the radiologic assisted "push" method. Descriptive statistical analysis, t-test and paired t-test with False Discovery Rate correction was performed. RESULTS: This retrospective study included 30 APD patients [median age 72 ± 5.6 years; mean disease duration 17.2 + 5.7 years]. Mean treatment duration was 35.6 (30.6) months. Overall, 156 PEG-J procedures were performed, and Nineteen patients (63.3%) had a total of 185 reported complications, 85 of which were peristomal complications. 17 (56.6%) underwent 100 replacement procedures due to complications. The most commonly reported complication for replacement was J-tube dislocation (36%). One patient discontinued treatment after 6 months, due to peripheral neuropathy. Six patients died for causes not related to DLI. PEG-J replacements performed with the "push" method had a higher turnover (5.6 vs. 7.6 mo.), but fewer reported complications (67 vs. 75%). CONCLUSION: The overall rate of complications was lower for "push" technique. This result might have been due to a higher replacement turnover that acted as a protective factor.
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Levodopa , Doença de Parkinson , Idoso , Gastrostomia , Humanos , Levodopa/efeitos adversos , Doença de Parkinson/tratamento farmacológico , Estudos RetrospectivosRESUMO
BACKGROUND: AIMS: To describe typical phonological development of Brazilian Portuguese (BP)-speaking children, considering the following parameters: age of customary production, acquisition and mastery. METHODS & PROCEDURES: Data were collected from 857 children aged between 3 years and 8 years 11 months with typical language and speech development. The sample was grouped into 6-month age bands. The data were analysed using one-way analysis of variance (ANOVA) followed by Games-Howell post-hoc tests. OUTCOMES & RESULTS: Stops (/p, b, t, d, k, g/), nasals (/m, n, ɲ/) and some fricatives (/f, v, s, z/) were mastered before the age of 3 years (age of mastery). The age of acquisition for phonemes /Ê, Ê/ was 3;6, though both were only mastered at 4;0 years. The liquid /l/ was acquired at 3;0 and mastered at age 3;6, while /x/ was acquired and mastered at age 3;6. The phoneme /Ê/ was acquired at 7;0 and mastered at age 8;6. The tap /ɾ/ was acquired between the ages of 4;0 and 4;6, and mastered at 4;6. In coda position, /n, l/ were acquired at 3;0, while /s/ was mastered at 4;6 and /ɾ/ between 4;6 and 5;0 years. Clusters involving /ɾ/ were acquired at 6;0, while those with /l/ were acquired between the ages of 6;6 and 7;0. CONCLUSIONS & IMPLICATIONS: This study presented acquisition for consonants in BP and can be used as a reference for the assessment of developmental speech disorders. In this study, stops and nasals were acquired first, followed by fricatives and, lastly, liquids. This finding is corroborated by previous studies in BP and other languages. WHAT THIS PAPER ADDS: What is already known on the subject What this paper adds to existing knowledge What are the potential or actual clinical implications of this work?
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Desenvolvimento da Linguagem , Idioma , Fonética , Brasil , Criança , Linguagem Infantil , Pré-Escolar , Humanos , Medida da Produção da FalaRESUMO
PURPOSE: Impaired olfactory function is one of the main features of Parkinson's disease. However, how peripheral olfactory structures are involved remains unclear. Using diffusion tensor imaging fiber tracking, we investigated for MRI microstructural changes in the parkinsonian peripheral olfactory system and particularly the olfactory tract, in order to seek a better understanding of the structural alternations underlying hyposmia in Parkinson's disease. METHODS: All patients were assessed utilizing by the Italian Olfactory Identification Test for olfactory function and the Unified Parkinson's Disease Rating Scale-III part as well as Hoehn and Yahr rating scale for motor disability. Imaging was performed on a 3 T Clinical MR scanner. MRI data pre-processing was carried out by DTIPrep, diffusion tensor imaging reconstruction, and fiber tracking using Diffusion Toolkit and tractography analysis by TrackVis. The following parameters were used for groupwise comparison: fractional anisotropy, mean diffusivity, radial diffusivity, axial diffusivity, and tract volume. RESULTS: Overall 23 patients with Parkinson's disease (mean age 63.6 ± 9.3 years, UPDRS-III 24.5 ± 12.3, H&Y 1.9 ± 0.5) and 18 controls (mean age 56.3 ± 13.7 years) were recruited. All patients had been diagnosed hyposmic. Diffusion tensor imaging analysis of the olfactory tract showed significant fractional anisotropy, and tract volume decreases for the Parkinson's disease group compared with controls (P < 0.05). Fractional anisotropy and age, in the control group, were significant for multiple correlations (r = - 0.36, P < 0.05, Spearman's rank correlation). CONCLUSIONS: Fiber tracking diffusion tensor imaging analysis of olfactory tract was feasible, and it could be helpful for characterizing hyposmia in Parkinson's disease.
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Pessoas com Deficiência , Transtornos Motores , Bulbo Olfatório , Doença de Parkinson , Idoso , Anisotropia , Imagem de Tensor de Difusão , Humanos , Pessoa de Meia-Idade , Bulbo Olfatório/diagnóstico por imagem , Doença de Parkinson/diagnóstico por imagemRESUMO
Spinocerebellar ataxia 17 (SCA17) is a rare genetic cause of adult-onset ataxia caused by an abnormal expansion of the CAG/CAA sequence in the TATA-box Binding Protein (TBP) gene. A number of repeats higher than 49 are full penetrance-expanded. The range between 41 and 49 repeats is characterized by decreased penetrance, and it is usually referred to as "small." Here, we describe two patients with the SCA17 phenotype and with 43 and 44 CAG repeats in the TBP gene, and review all the previously reported cases of SCA17 with a small range of expansions. We focus on both clinical features and imaging findings, which, in the case of small-expanded alleles, can resemble those of atypical parkinsonisms. Thus, we suggest to consider the small-expanded allele SCA17 as a possible diagnosis in patients with adult-onset ataxia, even when both clinical and imaging characteristics are suggestive for other non-genetic neurodegenerative diseases.
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Ataxias Espinocerebelares , Alelos , Variação Biológica da População , Humanos , Ataxias Espinocerebelares/diagnóstico por imagem , Ataxias Espinocerebelares/genética , Proteína de Ligação a TATA-Box/genética , Expansão das Repetições de Trinucleotídeos/genéticaRESUMO
Brain small vessel disease (SVD) refers to a variety of structural and functional changes affecting small arteries and micro vessels, and manifesting as white matter changes, microbleeds and lacunar infarcts. Growing evidence indicates that SVD might play a significant role in the neurobiology of central nervous system (CNS) neurodegenerative disorders, namely Alzheimer's disease (AD) and Parkinson's disease (PD), and neuroinflammatory diseases, such as multiple sclerosis (MS). These disorders share different pathophysiological pathways and molecular mechanisms (i.e., protein misfolding, derangement of cellular clearance systems, mitochondrial impairment and immune system activation) having neurodegeneration as biological outcome. In these diseases, the actual contribution of SVD to the clinical picture, and its impact on response to pharmacological treatments, is not known yet. Due to the high frequency of SVD in adult-aged patients, it is important to address this issue. In this review, we report preclinical and clinical data on the impact of SVD in AD, PD and MS, with the main aim of clarifying the predictability of SVD on clinical manifestations and treatment response.
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Doença de Alzheimer/patologia , Doenças de Pequenos Vasos Cerebrais/patologia , Esclerose Múltipla/patologia , Degeneração Neural/patologia , Doença de Parkinson/patologia , Doença de Alzheimer/fisiopatologia , Animais , Biomarcadores/metabolismo , Doenças de Pequenos Vasos Cerebrais/fisiopatologia , Humanos , Esclerose Múltipla/fisiopatologia , Degeneração Neural/fisiopatologia , Doença de Parkinson/fisiopatologiaRESUMO
Different psychopathological manifestations, such as affective, psychotic, obsessive-compulsive symptoms, and impulse control disturbances, may occur in most central nervous system (CNS) disorders including neurodegenerative and neuroinflammatory diseases. Psychiatric symptoms often represent the clinical onset of such disorders, thus potentially leading to misdiagnosis, delay in treatment, and a worse outcome. In this review, psychiatric symptoms observed along the course of several neurological diseases, namely Alzheimer's disease, fronto-temporal dementia, Parkinson's disease, Huntington's disease, and multiple sclerosis, are discussed, as well as the involved brain circuits and molecular/synaptic alterations. Special attention has been paid to the emerging role of fluid biomarkers in early detection of these neurodegenerative diseases. The frequent occurrence of psychiatric symptoms in neurological diseases, even as the first clinical manifestations, should prompt neurologists and psychiatrists to share a common clinico-biological background and a coordinated diagnostic approach.
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Doenças do Sistema Nervoso Central/complicações , Transtornos Psicóticos/diagnóstico , Diagnóstico Diferencial , Diagnóstico Precoce , Humanos , Transtornos Psicóticos/etiologia , Transtornos Psicóticos/fisiopatologiaRESUMO
BACKGROUND: To create an objective rating tool for hemifacial spasm (HFS) and validate it on a cohort of patients. METHODS: A panel of movement disorders specialists elaborated, through the Delphi method, the Hemifacial Spasm Grading Scale (HSGS). The validity of the scale was tested in a longitudinal, prospective observational study, with standardized video recording protocol before and after botulinum neurotoxin (BoNT) treatment. The video recordings obtained from each patient were then independently assessed with HSGS by three blinded raters. The scale was compared to patient-reported HFS-7 scale and to the clinical grading of spasm intensity scale. RESULTS: Intra-rater reproducibility ranged between ICC 0.73 (95% CI = 0.54-0.86) and 0.83 (0.68-0.92) and inter-rater reproducibility between 0.62 (95% CI = 0.44-0.77) and 0.82 (0.69-0.90). HSGS scores correlated with clinical grading of spasm intensity scale scores, but not with HFS-7. HSGS confirmed BoNT efficacy, with scores lowering at 1 month from treatment. CONCLUSIONS: HSGS represents an objective, quick and reliable scale for the assessment of HFS, and might be useful to monitor BoNT treatment efficacy over time.
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Espasmo Hemifacial/diagnóstico , Espasmo Hemifacial/tratamento farmacológico , Fármacos Neuromusculares/farmacologia , Avaliação de Resultados em Cuidados de Saúde/normas , Índice de Gravidade de Doença , Idoso , Toxinas Botulínicas/farmacologia , Técnica Delphi , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos TestesRESUMO
In Parkinson's disease (PD), respiratory disturbances have been reported and the effect of levodopa on respiratory function remains controversial. The objective of this study was to evaluate pulmonary function utilizing spirometric and subjective evaluations in mild to moderated PD. Thirty-four consecutive sporadic PD patients (Hoehn and Yahr scale: 1-3) were prospectively evaluated using clinimetric scales, spirometry and modified Borg scale, all in off- and on-conditions. To check the respiratory function, a follow-up was performed at 4 years in a subgroup of these patients. Spirometric results were normal for all patients in both the on- and off-conditions at baseline. After levodopa administration, in addition to a significant improvement in subjective state of breathing discomfort, the mean forced expiratory volume in 1 s (FEV1), vital capacity (VC), forced vital capacity (FVC) values and their mean percentages predicted values (FEV1%, VC%, FVC%) were significantly increased (p < 0.05). Moreover, residual volume, total lung capacity, and the FEV1/FVC ratio were not significantly different for the ON and OFF conditions. At 4-year follow-up no resulting variations in the baseline values for FEV1%, FVC% or VC% were revealed. The results from this prospective study suggest that PD patients report frequently pulmonary discomfort. Levodopa improves respiratory symptoms. Pulmonary restrictive and obstructive dysfunctions, when not present at baseline, might not be present at 4-year follow-up.
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Antiparkinsonianos/uso terapêutico , Levodopa/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Respiração/efeitos dos fármacos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Testes de Função RespiratóriaRESUMO
Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.
Assuntos
Mutação , Doença de Parkinson/genética , alfa-Sinucleína/genética , Família , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , FenótipoRESUMO
Freezing of gait (FOG) is a common and disabling symptom in Parkinson's disease (PD) and its staging is complex because of its episodic nature. Patient-reported assessments are essential in evaluating this disabling symptom. The Freezing of Gait Questionnaire (FOG-Q) is considered a valid and reliable tool for the assessment of FOG severity. The aim of our study was to validate the Italian version of FOG-Q and to investigate for its association with several clinical aspects of PD. Fifty-one PD patients were administered the FOG-Q and the timed up and go test. Moreover, patients were evaluated for the unified PD rating scale (UPDRS), the Hoehn and Yahr Scale (H&Y) and the falls-efficacy scale [FES(S)]. Mean (SD) FOG-Q item scores ranged between 1.5 and 2.7 (1.0-1.4); corrected item-total correlations ranged between 0.63 and 0.86. The total FOG-Q score ranged between 0 and 24, with a mean + SD of 12.6 (6.2) and a median (q1-q3) of 12 (9-17). Reliability was 0.91. FOG-Q correlated with H&Y (0.36, p = 0.0091), UPDRS part III (rS = 0.27, p = 0.054), PD duration (rS = 0.35, p < 0.01), FES(S) (rS = 0.58, p < 0.001) and the timed up and go test (rS = 0.51, p = 0.001). Non-significant positive correlations were observed for dyskinesia and motor fluctuations. Our study validates the Italian version of the FOG-Q, in that it results being a reliable instrument for assessing FOG in PD patients.
Assuntos
Transtornos Neurológicos da Marcha/diagnóstico , Inquéritos e Questionários , Idoso , Idoso de 80 Anos ou mais , Feminino , Transtornos Neurológicos da Marcha/epidemiologia , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Estatísticas não ParamétricasRESUMO
PURPOSE: To carry out the cross-cultural adaptation of the Instrument Profiles of Early Expressive Phonological Skills- Brazilian Portuguese (PEEPS-BP) - Expanded list, performing content validation. METHODS: Cross-cultural, quantitative and cross- sectional adaptation study, considering psychometric criteria. A study was carried out on the list of 423 words from the Communicative Development Inventory - MacArthur - Words and Sentences, adapted to Brazilian Portuguese. The method was divided into four steps. The list was judged by expert judges (JE) and non-specialist judges (JNE), considering as a criterion the familiarity of the word for a child aged between 24 and 36 months, and the representativeness of the word with toy/object, contemplating Steps 1 and 2. The child judges analyzed, in a data collection situation, the familiarity and representativeness of the stimulus-words, presented in Step 3. Afterwards, the pilot study - Step 4, was carried out with the selected stimulus-words. In the statistical analysis by expert and non-specialist judges, the Fleiss' Kappa and Gwet Concordance index was used. In the analysis of the responses of the child judges and in the Pilot Study, the analysis was made in relation to the type of response of the child, specifically scoring the spontaneous naming of the toy/object, scoring qualitatively. RESULTS: The result of Steps 1 and 2, and the agreement of the statistical tests for the Familiarity and Representativeness criteria was 45.7% for JE and 76.4% for JNE, and a result of 100% for the agreement of Representativeness. A total of 122 words were analyzed, resulting from previously established criteria, totaling 34 words (exclusion of one word by the researchers), totaling 33 stimulus-words. In Stage 3, of the 33 stimulus-words applied, nine presented spontaneous naming scores below expectations, being retested for Step 4, the Pilot Study. The result of the Pilot Study showed that of the nine retested stimulus-words, four of them still had a score below, being excluded from the study. Therefore, with the application of the Pilot Study, the expanded list of PEEPS-BP resulted in 29 words. CONCLUSION: The PEEPS-BP - Expanded List showed satisfactory evidence of content validity for the cross-cultural adaptation of the test.
OBJETIVO: Realizar a adaptação transcultural do Instrumento Profiles of Early Expressive Phonological Skills- Brazilian Portuguese (PEEPS-BP) - Lista expandida, realizando a validação de conteúdo. MÉTODO: Estudo de adaptação transcultural, quantitativo e transversal, considerando critérios psicométricos. Realizou-se o estudo da lista de 423 palavras do Inventário de Desenvolvimento Comunicativo- MacArthur- Palavras e Sentenças, adaptado para o Português Brasileiro. O método foi dividido em quatro Etapas. A lista foi julgada por juízes especialistas (JE) e juízes não especialistas (JNE), considerando como critério a familiaridade da palavra para uma criança entre 24 e 36 meses, e a representatividade da palavra com brinquedo/objeto, contemplando as Etapas 1 e 2. Os juízes crianças analisaram, em situação de coleta de dados, a familiaridade e a representatividade das palavras-estímulos, apresentado na Etapa 3. Após, realizou-se o estudo piloto- Etapa 4, com as palavras-estímulo selecionadas. Na análise estatística dos juízes especialistas e não especialistas utilizou-se o índice de Concordância do Kappa Fleiss e Gwet. Na análise das respostas dos juízes crianças e no estudo piloto, a análise foi feita em relação ao tipo de resposta da criança, especificamente pontuando a nomeação espontânea do brinquedo/objeto, pontuando de forma qualitativa. RESULTADOS: O resultado da Etapa 1 e 2, e a concordância dos testes estatísticos para os critérios de Familiaridade e Representatividade foi de 45,7% para JE e 76,4% para JNE, e resultado de 100% para a concordância da Representatividade. Foram analisadas 122 palavras, resultantes dos critérios previamente estabelecidos, totalizando 34 palavras (exclusão de uma palavra por parte das pesquisadoras), totalizando 33 palavras-estímulos. Na Etapa 3, das 33 palavras-estímulos aplicadas, nove apresentaram pontuação de nomeação espontânea abaixo do esperado, sendo retestadas para a Etapa 4, Estudo Piloto. O resultado do Estudo Piloto evidenciou que das nove palavras-estímulos retestadas, quatro delas ainda apresentaram pontuação abaixo, sendo excluídas do estudo. Portanto com a aplicação do estudo piloto a lista expandida do PEEPS-BP, resultou em 29 palavras. CONCLUSÃO: O PEEPS-BP - Lista Expandida apresentou evidências de validade de conteúdo satisfatórias para a adaptação transcultural do teste.
Assuntos
Idioma , Linguística , Criança , Humanos , Pré-Escolar , Brasil , Projetos Piloto , Psicometria , Traduções , Comparação Transcultural , Reprodutibilidade dos Testes , Inquéritos e QuestionáriosRESUMO
Background: This is a retrospective longitudinal study comparing 374 patients with Parkinson's disease (PD) who were treated in centers offering a specialized program of enhanced rehabilitation therapy in addition to expert outpatient care to 387 patients with PD, who only received expert outpatient care at movement disorders centers in Italy. Methods: The data are from subjects recruited in the Parkinson's Outcome Project (POP) at six Italian centers that are part of a multicenter collaboration for care quality improvement (the Fresco Network). The effects were measured with a baseline and a follow-up clinical evaluation of the Timed-Up-and-Go test (TUG), Parkinson's Disease Questionnaire (PDQ-39), and Multidimensional Caregiver Strain Index (MCSI), the number of falls and hospitalizations for any cause. We used a generalized linear mixed model with the dependent variables being the response variable, which included the covariates demographics, evaluation, and treatment variables. Results: We found that the subjects who underwent specialized enhanced rehabilitation had a better motor outcome over time than those who were managed by expert neurologists but had participated in community programs for exercise and other allied health interventions. The greatest effects were seen in patients in the early stages of the disease with a high amount of vigorous exercise per week in the last six months. Similar effects were seen for PDQ39, MCSI, the number of falls, and hospitalization. Conclusions: Long-term benefits to motor function and the quality of life in patients with PD and burden reduction in their caregivers can be achieved through a systematic program of specialized enhanced rehabilitation interventions.
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Pathophysiological substrate(s) and progression of Parkinson's disease (PD) with mild cognitive impairment (PD-MCI) are still matter of debate. Baseline cerebrospinal fluid (CSF) neurochemical profile and cognitive changes after 2 years were investigated in a retrospective series of PD-MCI (n = 48), cognitively normal PD (PD-CN, n = 40), prodromal Alzheimer's disease (MCI-AD, n = 25) and cognitively healthy individuals with other neurological diseases (OND, n = 44). CSF biomarkers reflecting amyloidosis (Aß42/40 ratio, sAPPα, sAPPß), tauopathy (p-tau), neurodegeneration (t-tau, NfL, p-NfH), synaptic damage (α-syn, neurogranin) and glial activation (sTREM2, YKL-40) were measured. The great majority (88%) of PD-MCI patients was A-/T-/N-. Among all biomarkers considered, only NfL/p-NfH ratio was significantly higher in PD-MCI vs. PD-CN (p = 0.02). After 2 years, one-third of PD-MCI patients worsened; such worsening was associated with higher baseline levels of NfL, p-tau, and sTREM2. PD-MCI is a heterogeneous entity requiring further investigations on larger, longitudinal cohorts with neuropathological verification.
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PURPOSE: To present and analyze the acquisition segmental curve of Brazilian Portuguese in simple and complex onset position and coda position. METHODS: 857 children with typical phonological acquisition participated in it, aged between 3:0 and 8:11, divided into age groups every 6 months. Participants were assessed using INFONO phonological assessment software. After analyzing the results, acquisition curves were drawn up for the segments analyzed in the different structures (simple and complex onset position and coda position). RESULTS: It was noted that, in simple onset position, some segments were acquired before 3:0 (stops, nasal and fricative, /f, v, s, z/. The /Ê/ and /l/ segments were acquired at 3:0, /Ê/ and /x/ at 3:6, /Ê/ at 4:0, /r/ at 4:6; in coda position /N/ and /L/ were acquired before of 3:0, /S/ at 3:6 and /r/ at 4:6; in complex onset position, the structures composed by Fricative + /r/ and Stop + /r/ were acquired at 5:0, Stop + /l/ at 5:6 and Fricative + /l/ at 6:0. CONCLUSION: Analyzing the acquisition curve is essential, as it provides a reference on the age of acquisition of segments in different syllabic structures. The acquisition curve contributes to the early identification of delays in phonological acquisition process enabling a timely referral for speech therapy intervention.
OBJETIVO: Apresentar e analisar a curva de aquisição segmental do Português Brasileiro em onset simples, complexo e coda. MÉTODO: Participaram 857 crianças com aquisição fonológica típica, com idades entre 3:0 e 8:11, divididos em faixas etárias de 6 em 6 meses. Os participantes foram avaliados, por meio do software INFONO de avaliação fonológica. Após a análise dos resultados foram elaboradas curvas de aquisição dos segmentos analisados nas diferentes estruturas (onset simples, complexo e coda). RESULTADOS: Observou-se que, em onset simples, alguns segmentos estavam adquiridos antes dos 3:0 (plosivas, nasais e fricativas /f, v, s, z/). Os segmentos /Ê/ e /l/ foram adquiridos aos 3:0, /Ê/ e /x/ aos 3:6, /Ê/ aos 4:0, /ɾ/ aos 4:6; em coda, /N/ e /L/ foram adquiridos antes dos 3:0, /S/ aos 3:6 e /ɾ/ aos 4:6; em onset complexo, as estruturas compostas por Fricativa+/ɾ/ e Plosiva+/ɾ/ foram adquiridas aos 5:0, Plosiva+/l/ aos 5:6 e Fricativa + /l/ aos 6:0. CONCLUSÃO: Analisar a curva de aquisição é fundamental, pois fornece referência sobre a idade de aquisição dos segmentos nas diferentes estruturas silábicas. A curva de aquisição contribui para a identificação precoce de atrasos no processo de aquisição fonológica possibilitando um encaminhamento oportuno para a intervenção fonoaudiológica.
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Idioma , Fonética , Brasil , Criança , Humanos , Lactente , Fala , Medida da Produção da FalaRESUMO
Brain iron load is one of the most important neuropathological hallmarks in movement disorders. Specifically, the iron provides most of the paramagnetic metal signals in the brain and its accumulation seems to play a key role, although not completely explained, in the degeneration of the basal ganglia, as well as other brain structures. Moreover, iron distribution patterns have been implicated in depicting different movement disorders. This work reviewed current literature on Magnetic Resonance Imaging for Brain Iron Detection and Quantification (MRI-BIDQ) in neurodegenerative processes underlying movement disorders.
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Ferro , Transtornos dos Movimentos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Transtornos dos Movimentos/diagnóstico por imagem , Transtornos dos Movimentos/patologia , NeuroimagemRESUMO
Hemifacial spasm (HFS) is a movement disorder characterized by involuntary contractions of the facial muscles innervated by the seventh cranial nerve. Generally, it is associated with a poor quality of life due to social embarrassment and can lead to functional blindness. Moreover, it is a chronic condition, and spontaneous recovery is rare. Intramuscular injections of Botulinum Toxin (BoNT) are routinely used as HFS treatment. METHODS: We reviewed published articles between 1991 and 2021 regarding the effectiveness and safety of BoNT in HFS as well as any reported differences among BoNT formulations. RESULTS: The efficacy of BoNT for HFS treatment ranged from 73% to 98.4%. The mean duration of the effect was around 12 weeks. Effectiveness did not decrease over time. Adverse effects were usually mild and transient. The efficacy and tolerability of the different preparations appeared to be similar. Among the studies, dosage, injected muscles, intervals of treatment, and rating scales were variable, thus leading to challenges in comparing the results. CONCLUSIONS: BoNT was the treatment of choice for HFS due to its efficacy and safety profile. Further studies are needed to investigate the factors that influence the outcome, including the optimal timing of treatment, injection techniques, dosage, and the best selection criteria for formulations.
Assuntos
Toxinas Botulínicas Tipo A/normas , Toxinas Botulínicas Tipo A/uso terapêutico , Espasmo Hemifacial/tratamento farmacológico , Fármacos Neuromusculares/normas , Fármacos Neuromusculares/uso terapêutico , Guias de Prática Clínica como Assunto , Humanos , Injeções IntramuscularesRESUMO
Diagnosis of Parkinson's disease (PD) relies on clinical history and physical examination, but misdiagnosis is common in early stages. Identification of biomarkers for PD may allow for early and more precise diagnosis and provide information about prognosis. Developments in analytical chemistry allow for the detection of a large number of molecules in cerebrospinal fluid (CSF), which are known to be associated with the pathogenesis of PD. Given the pathophysiology of PD, CSF α-synuclein species have the strongest rationale for use, also providing encouraging preliminary results in terms of early diagnosis. In the field of classical Alzheimer's disease (AD) biomarkers, low CSF Aß42 levels have shown a robust prognostic value in terms of development of cognitive impairment. Other CSF biomarkers including lysosomal enzymes, neurofilament light chain, markers of neuroinflammation and oxidative stress, although promising, have not proved to be reliable for diagnostic and prognostic purposes yet. Overall, the implementation of CSF biomarkers may give a substantial contribution to the optimal use of disease-modifying drugs.
RESUMO
Neuroinflammatory and neurodegenerative diseases are characterized by the interplay of a number of molecular pathways that can be assessed through biofluids, especially cerebrospinal fluid and blood. Accordingly, the definition and classification of these disorders will move from clinical and pathological to biological criteria. The consequences of this biomarker-based diagnostic and prognostic approach are highly relevant to the field of drug development. Indeed, in view of the availability of disease-modifying drugs, fluid biomarkers offer a unique opportunity for improving the quality and applicability of results from clinical trials. Herein, we discuss the benefits of using fluid biomarkers for patient stratification, target engagement, and outcome assessment, as well as the most recent developments in neuroinflammatory and neurodegenerative diseases.
Assuntos
Doença de Alzheimer , Doenças Neurodegenerativas , Doença de Alzheimer/diagnóstico , Biomarcadores , Humanos , PrognósticoRESUMO
Neuropathological investigations report that in synucleinopathies with dementia, namely Parkinson's disease (PD) with dementia (PDD) and dementia with Lewy bodies (DLB), the histopathological hallmarks of Alzheimer's Disease (AD), in particular amyloid plaques, are frequently observed. In this study, we investigated the cerebrospinal fluid (CSF) AD biomarkers in different clinical phenotypes of synucleinopathies. CSF Aß42/Aß40 ratio, phosphorylated tau and total tau were measured as markers of amyloidosis (A), tauopathy (T) and neurodegeneration (N) respectively, in 98 PD (48 with mild cognitive impairment, PD-MCI; 50 cognitively unimpaired, PD-nMCI), 14 PDD and 15 DLB patients, and 48 neurological controls (CTRL). In our study, CSF AD biomarkers did not significantly differ between CTRL, PD-MCI and PD-nMCI patients. In PD-nMCI and PD-MCI groups, A-/T-/N- profile was the most represented. Prevalence of A+ was similar in PD-nMCI and PD-MCI (10% and 13%, respectively), being higher in PDD (64%) and in DLB (73%). DLB showed the lowest values of Aß42/Aß40 ratio. Higher total tau at baseline predicted a worse neuropsychological outcome after one year in PD-MCI. A+/T+, i.e., AD-like CSF profile, was most frequent in the DLB group (40% vs. 29% in PDD).