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BACKGROUND: Therapeutic plasma exchange (TPE) is a highly effective rescue treatment for patients with acute exacerbation of neuroimmunological disease that removes circulating autoantibodies and inflammatory components from the bloodstream. The aims of this study are to explore the safety and the effectiveness of TPE in patients with autoimmune neurological disorders. METHODS: We retrospectively evaluated the frequency of adverse events (AEs) and the effectiveness of TPE using the modified Ranking Scale (mRS) in patients with acute neurological flares who underwent TPE at the University Hospital of Palermo. RESULTS: Of 59 patients, the majority underwent TPE due to multiple sclerosis (MS) relapse. In 23.7% of cases, TPE was performed before obtaining a definite diagnosis due to the severity of the clinical presentation. After TPE, the mRS score was globally reduced (p < 0.0001), and this effect was marked in patients with MS, Guillain-Barré syndrome, and myasthenia gravis crisis but not in those with paraneoplastic syndromes. Circulating pathogenetic antibodies, younger age, and the early use of TPE were factors strongly associated with TPE effectiveness. The overall safety profile of TPE was satisfactory with an AE frequency of 15%. CONCLUSIONS: These results highlight the early use of TPE in patients with circulating pathogenetic antibodies as well as its favorable safety profile.
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Abstract Introduction Previous studies have demonstrated beneficial effects in people with Parkinson´s disease trained with exergames. However, to the best of our knowledge, none of them evaluated whether these effects are sustained by neurofunctional changes. Objective To evaluate neurofunctional effects of a training, by means of functional magnetic resonance imaging, in people with Parkinson´s disease. Methods This study was a blind, randomized, and controlled pilot clinical trial with crossover design. The participants were submitted to an evaluation including cognitive performance and functional magnetic resonance imaging before and after the WiiTM or control trainings. Trainings were applied for 10 days, in two consecutive weeks. Participants starting with WiiTM training were then moved to the control training and vice versa. A wash-out period of 45 days between the trainings was respected. Results Memory, executive and visuo-spatial functions, and attention were significantly improved compared to baseline (p < 0.05). No differences were observed in cognition compared to the control training. Though not significant, results of functional magnetic resonance imaging analyses suggested that WiiTM training could promote improvements on the brain functional connectivity especially in areas involved in motor execution, planning, visual, memory and somatosensory functions. Conclusion In people with Parkinson´s disease, an intensive WiiTM training improved cognitive performance that underlined neurofunctional changes in areas involved in cognitive processing.
Resumo Introdução Estudos anteriores demonstraram efeitos bené-ficos em pessoas com doença de Parkinson treinadas com exergames. No entanto, até onde sabe-se, nenhum deles avaliou se esses efeitos são sustentados por alterações neurofuncionais. Objetivo Avaliar os efeitos neurofuncionais de um treinamento, por meio da ressonância magnética funcional, em pessoas com doença de Parkinson. Métodos Trata-se de um ensaio clínico piloto cego, randomizado e controlado com delineamento crossover. Os participantes foram submetidos a uma avaliação incluindo desempenho cognitivo e ressonância magnética funcional antes e após treinamentos com Wii® ou controle. Os treinamentos foram aplicados durante 10 dias, em duas semanas consecutivas. Os participantes que começaram o treinamento com Wii® foram depois movidos para o treinamento de controle e vice-versa. Respeitou-se um período de wash-out de 45 dias entre os treinamentos. Resultados Memória, funções executivas e visuoespaciais e atenção melhoraram significativamente em comparação com a linha de base (p < 0,05). Não foram observadas diferenças na cognição em comparação com o treinamento de controle. Embora não significativos, os resultados das análises de ressonância magnética funcional sugeriram que o treinamento com Wii® poderia promover melhorias na conectividade funcional do cérebro, especialmente em áreas envolvidas na execução motora, planejamento, funções visuais, de memória e somatossensoriais. Conclusão Em pessoas com doença de Parkinson, um treinamento intensivo com Wii® melhorou o desempenho cognitivo, que destacou mudanças neurofuncionais em áreas envolvidas no processamento cognitivo.
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The prevalence and impact of imaging findings detected during screening procedures in patients undergoing transcranial MR-guided Focused Ultrasound (tcMRgFUS) thalamotomy for functional neurological disorders has not been assessed yet. This study included 90 patients who fully completed clinical and neuroradiological screenings for tcMRgFUS in a single-center. The presence and location of preoperative imaging findings that could impact the treatment were recorded and classified in three different groups according to their relevance for the eligibility and treatment planning. Furthermore, tcMRgFUS treatments were reviewed to evaluate the number of transducer elements turned off after marking as no pass regions the depicted imaging finding. A total of 146 preoperative imaging findings in 79 (87.8%) patients were detected in the screening population, with a significant correlation with patients' age (rho = 483, p < 0.001). With regard of the group classification, 119 (81.5%), 26 (17.8%) were classified as group 1 or 2, respectively. One patient had group 3 finding and was considered ineligible. No complications related to the preoperative imaging findings occurred in treated patients. Preoperative neuroradiological findings are frequent in candidates to tcMRgFUS and their identification may require the placement of additional no-pass regions to prevent harmful non-targeted heating.
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Imageamento por Ressonância Magnética , Neuroimagem , Cuidados Pré-Operatórios , Cirurgia Assistida por Computador , Tálamo/diagnóstico por imagem , Tálamo/cirurgia , Ultrassonografia de Intervenção , Adulto , Idoso , Idoso de 80 Anos ou mais , Tomada de Decisão Clínica , Gerenciamento Clínico , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Neuroimagem/métodos , Cuidados Pré-Operatórios/métodos , Cirurgia Assistida por Computador/métodos , Tálamo/patologia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
OBJECTIVES: To assess the intraoperative neuroimaging findings in patients treated with transcranial MR-guided focused ultrasound (tcMRgFUS) thalamotomy using 1.5T equipment in comparison with the 48-h follow-up. METHODS: Fifty prospectively enrolled patients undergoing unilateral tcMRgFUS thalamotomy for either medication-refractory essential tremor (n = 39) or Parkinson tremor (n = 11) were included. Two radiologists evaluated the presence and size of concentric lesional zones (zone I, zone II, and zone III) on 2D T2-weighted sequences acquired intraoperatively after the last high-energy sonication and at 48 h. Sonication parameters including number of sonications, delivered energy, and treatment temperatures were also recorded. Differences in lesion pattern and size were assessed using the McNemar test and paired t test, respectively. RESULTS: Zones I, II, and III were visualized in 34 (68%), 50 (100%), and 44 (88%) patients, and 31 (62%), 50 (100%), and 45 (90%) patients after the last high-energy sonication for R1 and R2, respectively. All three concentric zones were visualized intraoperatively in 56-58% of cases. Zone I was significantly more commonly visualized at 48 h (p < 0.001). Diameter of zones I and II and the thickness of zone III significantly increased at 48 h (p < 0.001). Diameters of zones I and II measured intraoperatively demonstrated significant correlation with thermal map temperatures (p ≤ 0.001). Maximum temperature significantly correlated with zone III thickness at 48 h. A threshold of 60.5° had a sensitivity of 56.5-66.7% and a specificity of 70.5-75.5% for thickness > 6 mm at 48 h. CONCLUSIONS: Intraoperative imaging may accurately detect typical lesional findings, before completing the treatment. These imaging characteristics significantly correlate with sonication parameters and 48-h follow-up. KEY POINTS: ⢠Intraoperative T2-weighted images allow the visualization of the zone I (coagulation necrosis) in most of the treated patients, while zone II (cytotoxic edema) is always detected. ⢠Lesion size depicted with intraoperative transcranial MRgFUS imaging correlates well with procedure parameters. ⢠Intraoperative transcranial MRgFUS imaging may have a significant added value for treating physicians.
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Tremor Essencial/diagnóstico por imagem , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Imageamento por Ressonância Magnética/métodos , Doença de Parkinson/diagnóstico por imagem , Sonicação , Tálamo/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Tremor Essencial/cirurgia , Feminino , Humanos , Cuidados Intraoperatórios , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/cirurgia , Cirurgia Assistida por Computador/métodos , Tálamo/cirurgia , UltrassonografiaRESUMO
BACKGROUND: Autonomic nervous system dysfunction, common in patients with Parkinson's disease (PD), causes significant morbidity and it is correlated with poor quality of life. To assess frequency of urinary symptoms in patients with PD, without conditions known to interfere with urinary function. METHODS: Non-demented PD patients were consecutively enrolled from the outpatients clinic of our department. Scales investigating motor and non-motor symptoms were carried out. Evaluation of urinary dysfunctions was carried out using the AUTonomic Scale for Outcomes in Parkinson's disease (SCOPA-AUT) questionnaire. Patients underwent noninvasive urological studies (nUS), including uroflowmetry and ultrasound of the urinary tract. RESULTS: Forty-eight (20 women, 42%) out of 187 PD patients met the inclusion criteria and were enrolled in the study. Mean SCOPA-AUT score was 14.1 ± 6.9 (urinary symptoms subscore 5.2 ± 3.8). Among those evaluated by the SCOPA-AUT scale, the urinary symptoms were among the most common complaints (93.8%). At nUS mean maximum flow rate (Qmax) was 17.9 ± 9.1 ml/s, and mean postvoid residual (PVR) urine volume was 24.4 ± 44.1 ml. Ultrasound investigation documented prostate hypertrophy in 12 male patients (42.8%). Urinary items of the SCOPA-AUT (SCOPA-U subscore) correlated with measures of disease severity only in female patients. CONCLUSION: Urinary symptoms and abnormal findings in nUS are common in PD. Though nigrostriatal degeneration might be responsible for urinary symptoms also in the early-intermediate stage of the disease, when urinary dysfunction occurs other medical conditions need to be excluded.
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Doenças do Sistema Nervoso Autônomo/epidemiologia , Doenças do Sistema Nervoso Autônomo/etiologia , Doença de Parkinson/complicações , Doenças Urológicas/epidemiologia , Doenças Urológicas/etiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Inquéritos e QuestionáriosRESUMO
OBJECTIVE Transcranial magnetic resonance-guided focused ultrasound surgery (tcMRgFUS) is one of the emerging noninvasive technologies for the treatment of neurological disorders such as essential tremor (ET), idiopathic asymmetrical tremor-dominant Parkinson's disease (PD), and neuropathic pain. In this clinical series the authors present the preliminary results achieved with the world's first tcMRgFUS system integrated with a 1.5-T MRI unit. METHODS The authors describe the results of tcMRgFUS in a sample of patients with ET and with PD who underwent the procedure during the period from January 2015 to September 2017. A monolateral ventralis intermedius nucleus (VIM) thalamic ablation was performed in both ET and PD patients. In all the tcMRgFUS treatments, a 1.5-T MRI scanner was used for both planning and monitoring the procedure. RESULTS During the study period, a total of 26 patients underwent tcMRgFUS thalamic ablation for different movement disorders. Among these patients, 18 were diagnosed with ET and 4 were affected by PD. All patients with PD were treated using tcMRgFUS thalamic ablation and all completed the procedure. Among the 18 patients with ET, 13 successfully underwent tcMRgFUS, 4 aborted the procedure during ultrasound delivery, and 1 did not undergo the tcMRgFUS procedure after stereotactic frame placement. Two patients with ET were not included in the results because of the short follow-up duration at the time of this study. A monolateral VIM thalamic ablation in both ET and PD patients was performed. All the enrolled patients were evaluated before the treatment and 2 days after, with a clinical control of the treatment effectiveness using the graphic items of the Fahn-Tolosa-Marin tremor rating scale. A global reevaluation was performed 3 months (17/22 patients) and 6 months (11/22 patients) after the treatment; the reevaluation consisted of clinical questionnaires, neurological tests, and video recordings of the tests. All the ET and PD treated patients who completed the procedure showed an immediate amelioration of tremor severity, with no intra- or posttreatment severe permanent side effects. CONCLUSIONS Although this study reports on a small number of patients with a short follow-up duration, the tcMRgFUS procedure using a 1.5-T MRI unit resulted in a safe and effective treatment option for motor symptoms in patients with ET and PD. To the best of the authors' knowledge, this is the first clinical series in which thalamotomy was performed using tcMRgFUS integrated with a 1.5-T magnet.
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Tremor Essencial/diagnóstico por imagem , Monitorização Neurofisiológica Intraoperatória/métodos , Imageamento por Ressonância Magnética/métodos , Doença de Parkinson/diagnóstico por imagem , Tálamo/diagnóstico por imagem , Ultrassonografia de Intervenção/métodos , Adulto , Idoso , Tremor Essencial/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/cirurgia , Tálamo/cirurgia , Resultado do TratamentoRESUMO
BACKGROUND: The association between multiple sclerosis (MS) and cancer has long been investigated with conflicting results. Several reports suggest an increased cancer risk among MS patients treated with immunosuppressant (IS) drugs. METHODS: We performed a cohort study including MS patients recruited at the Neurological Department of the University of Palermo. Mean follow-up period was ten years for the whole cohort. We calculated cancer incidence among patients treated with IS. Incidence rates were compared in the cohort by calculating the relative risk according to length and dose of exposure to IS. Cancer incidence among MS patients was compared to cancer incidence in the general population of Sicily in similar age groups. RESULTS: On an overall cohort of 531 MS patients (346 women and 185 men) exposed to IS, we estimated a crude incidence rate for cancer of 2.26% (2.02% in women, 2.7% in men). Cancer risk was higher compared to rates observed among an equal number of patients not exposed to IS, and to the risk in the general population in Sicily at similar age groups (adjusted HR: 11.05; CI 1.67-73.3; p = 0.013). CONCLUSION: The present study showed a higher cancer risk in MS patients associated only to previous IS exposure. Studies on long-term outcomes are essential to evaluate the possibility that treatment options that need to be considered for a long time-period may modify risk for life threatening diseases.
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Imunossupressores/uso terapêutico , Esclerose Múltipla/epidemiologia , Neoplasias/epidemiologia , Adulto , Estudos de Coortes , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/tratamento farmacológico , Risco , Adulto JovemRESUMO
Studies reporting an inverse association between Alzheimer's disease (AD) and cancer are scant. Available data are mostly based on ancillary findings of mortality data or obtained from studies evaluating frequency of neoplasms in AD patients independently if they occurred before or after AD. Moreover, some studies estimated frequencies of neoplasms in demented individuals, who were not necessarily AD patients. We estimated frequency of tumors preceding the onset of AD in AD patients and compared it to that of age- and gender-matched AD-free individuals. Occurrence of tumors preceding AD onset was assessed through a semi-structured questionnaire. Tumors were categorized as benign, malignant, or of uncertain classification and as endocrine-related or not. Odds ratios (OR), used as measure of the association between the two diseases, were adjusted for tumor categories and known risk factors for AD and tumors. We included 126 AD patients and 252 matched controls. Tumor frequency before AD onset was 18.2% among cases and 24.2% among controls. There was a suggestive trend of an overall inverse association between the two diseases (adjusted OR 0.6; 95% CI 0.4-1.1; p = 0.11). Risk for neoplasms was significantly reduced only for women (adjusted OR, 0.5; 95% CI 0.3-0.9; p = 0.03) and for endocrine related tumors (adjusted OR, 0.5; 95% CI 0.2-1; p = 0.04). Our study confirms the inverse association reported in previous epidemiological studies. Though our findings might be explained by processes playing an opposite role in tumors development and neurodegeneration, they are also suggestive for a possible role of estrogen.
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Doença de Alzheimer/epidemiologia , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/epidemiologia , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/diagnóstico , Associação , Estudos de Casos e Controles , Progressão da Doença , Feminino , Humanos , Masculino , Razão de Chances , Estudos Retrospectivos , Fatores de Risco , Fatores SexuaisRESUMO
Neuroimaging, an important diagnostic tool frequently used in the evaluation of patients with epilepsy, has mainly the aim to identify structural abnormalities needing a treatment and to contribute to the definition of the aetiology. Brain magnetic resonance imaging (MRI) in epilepsy is more sensitive than computerized tomography (CT) scan for detecting abnormalities. Status epilepticus (SE) and repeated incoming seizures may determine extensive and transient or long lasting pronounced MRI changes. We describe a case of a 41-year-old woman with a history of brain neoplasm, whose contrast-enhanced MRI images following repeated and incoming seizures were characterized either by reversible and irreversible abnormalities.
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Imageamento por Ressonância Magnética , Convulsões/diagnóstico , Convulsões/fisiopatologia , Adulto , Eletroencefalografia , Feminino , Humanos , RecidivaRESUMO
Leprosy (Hansen's disease) is a chronic granulomatous infectious disease, caused by Mycobacterium leprae, with cutaneous and neurological manifestations. Leprosy is very rare in Europe but some cases are reported, especially among people coming from endemic areas. Here, we report a case of Hansen's disease and emphasize the importance of a prompt diagnosis and treatment also in non-endemic areas.
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Hanseníase/diagnóstico , Hanseníase/terapia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/terapia , Adolescente , Eletromiografia , Humanos , Hanseníase/fisiopatologia , Masculino , Neurônios Motores/fisiologia , Músculo Esquelético/inervação , Músculo Esquelético/fisiopatologia , Condução Nervosa , Doenças do Sistema Nervoso Periférico/fisiopatologia , Senegal/etnologia , Células Receptoras Sensoriais/fisiologia , SicíliaRESUMO
Previously described neurologic damage induced by immunosuppressive treatments includes transient or reversible central nervous system involvement. We describe a 57-year-old man who underwent liver transplantation and was started on immunosuppressive therapy with tacrolimus (FK506). Six months later, he started complaining of a progressive motor and sensory impairment of the left side, together with cognitive impairment. Brain MRI showed an enlarging lesion of the white matter with peripheral contrast enhancement. PET study indicated severe hypometabolism in the right hemisphere and spectroscopic MRI showed a peak of choline and relative reduction of other metabolites. Findings of CSF examinations and cultures, serology, and molecular techniques were normal. Tacrolimus treatment was stopped. A cerebral biopsy of the lesion showed a sub acute necrotizing process. In the following months, cognitive status of the patient tended to improve although he remained hemiplegic, while serial MRI confirmed the tendency to the recovery of the lesion that was still present 1 year after. The present observation describes a progressive encephalopathy associated with immune suppression with an unusual feature and permanent brain damage.
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Encefalopatias/induzido quimicamente , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Transplante de Fígado/métodos , Tacrolimo/efeitos adversos , Tacrolimo/uso terapêutico , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Encéfalo/patologia , Encefalopatias/metabolismo , Encefalopatias/patologia , Progressão da Doença , Seguimentos , Hepatite Crônica/tratamento farmacológico , Hepatite Crônica/cirurgia , Humanos , Imageamento por Ressonância Magnética , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Necrose/induzido quimicamente , Necrose/metabolismo , Necrose/patologia , Tomografia por Emissão de Pósitrons , População BrancaRESUMO
OBJECTIVE: To assess the association between diabetes preceding Parkinson's disease (PD) and PD. METHODS: PD individuals were matched to PD free individuals randomly selected from people in the same municipality as the cases. Occurrence of diabetes preceding PD onset among cases and controls was assessed through a structured questionnaire. Information regarding current and past medical treatment and other variables was also collected. We used univariate and multivariate logistic models to calculate crude and adjusted odds ratios (OR). Covariates are adjusted for included education, smoking habit, alcohol and coffee consumption. RESULTS: 318 PD individuals (165 women, 153 men) and 318 matched controls were included in the study. PD patients had a mean age at interview of 66.7 years. Mean age at PD onset was 60.8 years and mean PD duration 5.9 years. We found an inverse association between PD and diabetes preceding PD onset in all groups stratified by gender, age at PD onset, body mass index (BMI), smoking habit, alcohol and coffee consumption. Multivariate analysis yielded the same findings after controlling for the variables (adjusted OR 0.4; 95% CI, 0.2-0.8). CONCLUSIONS: Our findings provide additional support for a potential link between diabetes and PD.
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Diabetes Mellitus/epidemiologia , Doença de Parkinson/epidemiologia , Estudos de Casos e Controles , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
Epidemiological evidence suggests a reduced incidence of many common types of cancers in individuals with Parkinson's disease (PD). Parkinson's disease and cancer are two diseases that result from an excessive signaling by one of two forces driving cells to opposite directions. PD results from the excessive death of dopaminergic neurons in the substantia nigra pars compacta (SNc) in the brain, while uncontrolled growth is the key property of cancer. Parkinson's disease is a complex disorder, probably due in most of the cases to the interaction of environment and genes. Many genes responsible for familial forms of PD are supposed to have a supportive role in regulating or maintaining the cell cycle, a fact that allows us to assume their interaction in tumorigenesis. Understanding the nature of these processes may help researchers find new and more efficacious therapeutic approaches for both diseases.
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Neoplasias/epidemiologia , Doença de Parkinson/epidemiologia , Morte Celular , Humanos , Incidência , Neoplasias/etiologia , Doença de Parkinson/etiologia , Fatores de Risco , Substância Negra/patologiaRESUMO
Myocardial (123)Metaiodobenzylguanidine (MIBG) enables the assessment of postganglionic sympathetic cardiac innervation. MIBG uptake is decreased in nearly all patients with Parkinson's disease (PD). Our objective was to evaluate MIBG uptake in patients with genetic PD. We investigated MIBG uptake in 14 patients with PD associated with mutations in different genes (Parkin, DJ-1, PINK1, and leucine-rich repeat kinase 2 -LRRK2), in 15 patients with idiopathic PD, and 10 control subjects. The myocardial MIGB uptake was preserved in 3 of the 4 Parkin-associated Parkinsonisms, in 1 of the 2 patients with DJ-1 mutations, in 1 of the 2 brothers with PINK1 mutations, in 3 of the 6 unrelated patients with Gly2019Ser mutation in the LRRK2 gene, whereas it was impaired in all patients with idiopathic PD. MIBG was preserved in all control subjects. Our study shows that myocardial MIGB uptake was normal in 8 of 14 patients with genetic PD, suggesting that cardiac sympathetic denervation occurs less frequently in genetic PD than in idiopathic PD. Our findings also demonstrate that MIGB uptake has a heterogeneous pattern in genetic PD, because it was differently impaired in patients with different mutations in the same gene or with the same gene mutation.
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3-Iodobenzilguanidina/farmacocinética , Miocárdio/metabolismo , Doença de Parkinson/diagnóstico , Doença de Parkinson/genética , Transtornos Parkinsonianos/diagnóstico , Transtornos Parkinsonianos/genética , Mutação Puntual/genética , Compostos Radiofarmacêuticos/farmacocinética , Adulto , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Resposta Galvânica da Pele/fisiologia , Genótipo , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/sangue , Peptídeos e Proteínas de Sinalização Intracelular/genética , Serina-Treonina Proteína Quinase-2 com Repetições Ricas em Leucina , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/diagnóstico , Transtornos dos Movimentos/epidemiologia , Proteínas Oncogênicas/sangue , Proteínas Oncogênicas/genética , Doença de Parkinson/epidemiologia , Transtornos Parkinsonianos/epidemiologia , Regiões Promotoras Genéticas , Proteína Desglicase DJ-1 , Proteínas Quinases/sangue , Proteínas Quinases/genética , Proteínas Serina-Treonina Quinases/sangue , Proteínas Serina-Treonina Quinases/genética , Índice de Gravidade de Doença , Inquéritos e Questionários , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Ubiquitina-Proteína Ligases/sangue , Ubiquitina-Proteína Ligases/genéticaRESUMO
We used a CAPSIT-based questionnaire to estimate the percentage of parkinsonian patients suitable for subthalamic nucleus (STN) deep brain stimulation (DBS) in a movement disorders clinic. We found that out of 641 consecutive PD patients only 1.6% fulfilled strict STN-DBS criteria. When we applied more flexible criteria, the percentage of eligibility increased to 4.5%. Most patients (60%) were ineligible because they did not satisfy multiple questionnaire items. Items related to disease severity were responsible for the largest number of exclusions. This knowledge will help make decisions on resource allocation in centres wishing to start DBS surgery.
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Estimulação Encefálica Profunda/métodos , Transtornos Parkinsonianos/terapia , Seleção de Pacientes , Núcleo Subtalâmico/fisiologia , Adulto , Idoso , Distribuição de Qui-Quadrado , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Parkinsonianos/epidemiologia , Inquéritos e QuestionáriosRESUMO
Multiple sclerosis (MS) is a cell-mediated autoimmune disease characterized by type-1 cytokine production. Environmental and individual genetic background might influence this response particularly in cytokine gene polymorphisms. We evaluated whether polymorphisms of interleukin (IL)-10, IL-12, and tumor necrosis factor (TNF)-alpha genes, which might play a role in MS pathogenesis, are associated with MS susceptibility. Genotype frequencies for all the analyzed polymorphisms were not differently distributed between cases and controls. It is reasonable to suppose that the cytokine single-nucleotide polymorphisms (SNPs) studied must be considered against a larger genetic background involving other functional SNPs of Th1 regulator elements such as IL-21 and IL-23.
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Predisposição Genética para Doença/genética , Esclerose Múltipla/genética , Estudos de Casos e Controles , Citocinas/genética , Suscetibilidade a Doenças , Feminino , Frequência do Gene , Humanos , Interleucina-10/genética , Interleucina-12/genética , Masculino , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Fator de Necrose Tumoral alfa/genéticaRESUMO
Evidence from experimental and epidemiological studies suggests a role of sex hormones in the pathogenic process leading to neurodegenerative diseases, (i.e., Alzheimer's and Parkinson's disease). The effects of sexual steroid hormones are complex and vary with the events of women's fertile life. Estrogens are supposed to influence dopamine synthesis, metabolism, and transport; however, there is no consensus regarding the direction, locus, and mechanism of the effect of estrogens on the dopaminergic system. A neuroprotective effect of estrogens has been demonstrated in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-animal models of Parkinson's disease (PD). Epidemiological studies indicate gender differences regarding the onset and the prognosis of PD. Most of the analytical studies explored the relationship between PD and exogenous estrogens. Only three studies investigated the role of endogenous estrogens in the risk of developing PD. These studies reported an increased risk of PD in conditions causing an early reduction in endogenous estrogens (early menopause, reduced fertile life length). Longer cumulative length of pregnancies has also been associated with an increased PD risk. A lack of consensus still exists on the effect of the type of menopause (surgical vs. natural) on PD risk. Finally, the effect of postmenopausal estrogen replacement therapy is still debated. Inconsistencies across studies are in part explained by the complexity of the mechanisms of action of sexual hormones and by the paucity of analytical studies.
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Estrogênios/metabolismo , Doença de Parkinson/epidemiologia , Doença de Parkinson/etiologia , Razão de Masculinidade , Animais , Estrogênios/uso terapêutico , Feminino , Humanos , Incidência , Masculino , Menopausa Precoce/metabolismo , Doença de Parkinson/tratamento farmacológico , RatosRESUMO
DJ-1 gene mutations have been found to cause early-onset Parkinson's disease. We report a family from southern Italy with three brothers affected by early-onset parkinsonism, dementia, and amyotrophic lateral sclerosis. Molecular analysis of the DJ-1 gene in two living patients showed a novel homozygous mutation in exon 7 (E163K) and a new homozygous mutation (g.168_185dup) in the promoter region of the gene. Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene.
Assuntos
Esclerose Lateral Amiotrófica/genética , Demência/genética , Mutação , Proteínas Oncogênicas/genética , Transtornos Parkinsonianos/genética , Esclerose Lateral Amiotrófica/complicações , Northern Blotting/métodos , Análise Mutacional de DNA/métodos , Demência/complicações , Éxons , Saúde da Família , Feminino , Ácido Glutâmico/genética , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Masculino , Mucoproteínas/genética , Transtornos Parkinsonianos/complicações , Proteína Desglicase DJ-1 , RNA Mensageiro/biossíntese , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodosRESUMO
OBJECTIVE: To investigate frequency and associated factors of post polio syndrome (PPS) in an Italian cohort of people with prior poliomyelitis. METHODS: We screened subjects admitted for poliomyelitis at the paediatric hospital of the University of Palermo during the time frame 1945-1960. Patients who developed PPS were identified through a structured questionnaire and a neurologic examination. PPS diagnosis was made according to specified diagnostic criteria. Frequency of PPS was calculated in the selected cohort of polio survivors. The association with the investigated risk factors (sex, age at onset of polio, extension and severity of polio, education, associated diseases, cigarette smoking, trauma, polio vaccination) was analysed by the calculation of the odds ratio. RESULTS: Forty-eight participants met the adopted diagnostic criteria for PPS, giving a prevalence of 31.0%. The prevalence rate was significantly higher in women than in men (p=0.02). Logistic regression analyses revealed a significant inverse association with onset of poliomyelitis at over 12 months of age (OR 0.33; CI 0.14-0.79) a higher degree of education (OR 0.20; CI 0.07-0.79), and a significant association with the presence of other diseases (OR 9.86; CI 3.69-26.34). CONCLUSIONS: In our survey one-third of patients with prior poliomyelitis had PPS. Higher age at onset of poliomyelitis is inversely associated with PPS. The association with other diseases may indicate that a chronic physical stress, particularly in already weak motor units, can contribute to the development of signs and symptoms of PPS. Our results also suggest the impact of socio-economic conditions on the risk of PPS.
Assuntos
Poliomielite/complicações , Síndrome Pós-Poliomielite/epidemiologia , Síndrome Pós-Poliomielite/etiologia , Distribuição de Qui-Quadrado , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico/métodos , Síndrome Pós-Poliomielite/diagnóstico , Prevalência , Fatores de Risco , Inquéritos e QuestionáriosRESUMO
Lower cancer risk in Parkinson's disease (PD) patients compared to the general population has been reported. However, most of the studies were based on death certificates. We designed a case-control study to estimate the association of tumor preceding PD onset and PD. PD patients were matched by age and gender to PD-free individuals, randomly selected from the municipalities of residence of cases. Occurrence of tumors preceding PD onset was assessed through a structured questionnaire. Neoplasms were categorized as benign, malignant, or of uncertain classification, and endocrine-related or not. Odds ratios (OR) were calculated using conditional logistic regression and adjusted for tumor categories and risk factors. We included 222 PD patients. Frequency of cancer was 6.8% for cases, 12.6% for controls. PD patients had a decreased risk for neoplasms (adjusted OR, 0.4; 95% confidence interval [CI], 0.2-0.7). Risk was reduced only for women (adjusted OR, 0.3; 95% CI, 0.1-0.7). PD patients had a decreased risk both for malignant (adjusted OR, 0.6; 95% CI, 0.1-2.5) and nonmalignant neoplasms (adjusted OR, 0.3; 95% CI, 0.1-0.7). Still, risk was decreased for endocrine-related tumors (adjusted OR, 0.3; 95% CI, 0.1-0.9) and non-endocrine-related tumors (adjusted OR, 0.4; 95% CI, 0.1-0.9). Our study confirms the inverse association between PD and neoplasms reported in previous epidemiologic studies.