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La enfermedad de Parkinson y Alzheimer son las enfermedades neurodegenerativas más frecuentes a nivel mundial. Tienen etiología multifactorial, entre ellas, la genética; y son motivo de interés en la investigación científica actual. Se realizó una revisión narrativa con el objetivo de determinar las alteraciones genéticas asociadas a estas patologías, además su influencia en la evolución y respuesta al tratamiento de ellas. Se consultaron artículos originales, revisiones bibliográficas, sistemáticas, metaanálisis en inglés y español, con fecha de publicación entre el 1 enero de 2018 y el 20 de mayo de 2023, en bases como PubMed y Medline. Se utilizaron los términos MeSH «Alzheimer Disease¼, «Parkinson Disease¼, «Drug Therapy¼ y «Mutations¼. El riesgo hereditario para la enfermedad de Parkinson suele ser poligenético, sin embargo, existen genes relacionados con mutaciones monogénicas. Se identifican alteraciones en genes de α-sinucleína, glucocerebrosidasa y quinasa 2 rica en leucina que se relacionan con mayor riesgo de desarrollar Parkinson, además de variaciones en el cuadro clínico y edad de inicio de síntomas. En cuanto a la enfermedad de Alzheimer, las alteraciones en los genes de la proteína precursora amiloide, presenilina 1 y 2 se relacionan con la forma familiar de la enfermedad; por otra parte, las de apolipoproteína E4 se han identificado en la forma esporádica, por lo que se consideran como el factor de riesgo genético más importante para su desarrollo
Parkinson's and Alzheimer's are the most frequent neurodegenerative diseases worldwide. They have a multifactorial etiology, including genetics, and are of interest in current scientific research. A narrative review was carried out with the aim of determining the genetic alterations associated with these pathologies, as well as their influence on their evolution and response to treatment. Original articles, literature reviews, systematic reviews, meta-analyses in English and Spanish, with publication date between January 1, 2018 and May 20, 2023, were consulted in databases such as PubMed and Medline. MeSH terms "Alzheimer Disease", "Parkinson Disease", "Drug Therapy" and "Mutation" were used. Hereditary risk for Parkinson's disease is usually polygenetic, however, there are genes related to monogenic mutations. Alterations in α-synuclein, glucocerebrosidase and leucine-rich kinase 2 genes have been identified that are related to an increased risk of developing Parkinson's disease, in addition to variations in the clinical picture and age of symptom onset. As for Alzheimer's disease, alterations in the genes of the amyloid precursor protein, presenilin 1 and 2 are related to the familial form of the disease; on the other hand, those of apolipoprotein E4 have been identified in the sporadic form, and are therefore considered to be the most important genetic risk factor for its development
Subject(s)
El SalvadorABSTRACT
El diagnóstico de enfermedad de Parkinson (ED) se basa en las principales manifestaciones motoras: bradicinesia en combinación con temblor en reposo, rigidez o ambos. Cuando se realiza el diagnóstico basado en la sintomatología motora clínica típica ya se han perdido hasta el 60 % de las neuronas dopaminérgicas de la sustancia negra pars compacta mesencefálica. La identificación de los síntomas premotores son un marcador temprano para sospechar la aparición futura de la enfermedad, así como su progresión y gravedad. La hipótesis sobre la patogénesis que mejor expone la progresión de la enfermedad es la teoría de Braak. Esta se basa en la aparición y presencia de cuerpos de Lewy en diferentes estructuras anatómicas, las cuales representadas en cada uno de sus seis estadios y podrían ser la explicación biológica de los síntomas premotores, motores y no motores. La detección temprana de los síntomas premotores puede tener repercusiones positivas en el enfoque, seguimiento, diagnóstico y tratamiento de la EP. El propósito de este artículo es identificar las aproximaciones neurológicas descritas por la teoría de Braak para los síntomas premotores de la enfermedad de Parkinson de acuerdo con la literatura publicada en los últimos 20 años.
The diagnosis of Parkinson's disease (PD) is based on the main motor manifestations: bradykinesia in combination with tremor at rest, rigidity, or both. When the diagnosis is made based on typical clinical motor symptoms, up to 60 % of the dopaminergic neurons of the mesencephalic substantia nigra pars compacta have already been lost. The identification of premotor symptoms is an early marker to suspect the future appearance of the disease, as well as its progression and severity. The hypothesis about the pathogenesis that best exposes the progression of the disease is Braak's theory. It is based on the appearance and presence of Lewy bodies in different anatomical structures, which are represented in each of its six stages and could be the biological explanation biological of premotor, motor, and non-motor symptoms. Early detection of premotor symptoms can have positive repercussions in the approach, follow-up, diagnosis and treatment of PD. The purpose of this article is to identify the neurological approaches described by Braak's theory for the premotor symptoms of Parkinson's disease according to the literature published in the last 20 years.
O diagnóstico da doença de Parkinson (DP) baseia-se nas principais manifestações motoras: bradicinesia combinada com tremor de repouso, rigidez ou ambos. Quando o diagnóstico é feito com base em sintomas clínicos motores típicos, até 60% dos neurônios dopaminérgicos da substância negra pars compacta mesencefálica já foram perdidos. A identificação de sintomas pré-motores é um marcador precoce para suspeitar do futuro aparecimento da doença, bem como da sua progressão e gravidade. A hipótese sobre a patogênese que melhor expõe a progressão da doença é a teoria de Braak. Isto se baseia no aparecimento e presença de corpos de Lewy em diferentes estruturas anatômicas, que estão representados em cada uma de suas seis etapas e podem ser a explicação biológica dos sintomas pré-motores, motores e não motores. A detecção precoce de sintomas pré-motores pode repercutir positivamente na abordagem, acompanhamento, diagnóstico e tratamento da DP. O objetivo deste artigo é identificar as abordagens neurológicas descritas pela teoria de Braak para os sintomas pré-motores da doença de Parkinson de acordo com a literatura publicada nos últimos 20 anos.
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Humans , Adult , Middle Aged , Aged , Aged, 80 and overABSTRACT
The neuroimmune system is crucial for the development， aging， and damage of the central nervous system， and has gradually become a research hotspot. Triggeringreceptor expressed on myeloid cells-2 （TREM2） is a transmembrane receptor of the immunoglobulin superfamily and is mainly expressed in the microglia in the central nervous system. An increasing number of studies indicate that TREM2 has great potential to improve cognitive dysfunction related to Alzheimer's disease， vascular dementia， Parkinson's disease， postoperative cognitive impairment， obesity， etc. However， there is a lack of a systematic summary of the specific role of TREM2 in cognitive dysfunction. This paper reviews the progress in the latest research on the related mechanisms of TREM2 in cognitive dysfunction， in order to provide new strategies for the treatment of cognitive dysfunction.
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Parkinson's disease （PD） is a kind of chronic progressive neurodegenerative disease that has a high prevalence rate in recent years， especially in the elderly. PD belongs to the category of "tremor disease" and "tremor" in traditional Chinese medicine， and Tianma Goutengyin is a classic prescription contained in the Synopsis of The New Significance of Patterns and Treatment in Miscellaneous Diseases（《中医内科杂病证治新义》）. This article explored the theory of Tianma Goutengyin in the treatment of PD， and based on network pharmacological research， the article summarized relevant research on Tianma Goutengyin and its single herb in the treatment of PD. Moreover， it discussed the clinical applications and mechanisms of Tianma Goutengyin and its single herb in the treatment of PD. It is found that the mechanisms of Tianma Goutengyin in treating PD may be related to resisting oxidative stress， inhibiting inflammatory response， regulating neurotransmitters， and protecting dopamine （DA） neurons. Besides， the main components of the single herb in Tianma Goutengyin for treating PD are gastrodin， rhynchophylline， geniposide， gardenial alcohol， eucommitol glycoside， motherwort alkaloid， baicalin， pachyman， and achyranthes bidentata sterol. They can improve the related symptoms of PD patients by inhibiting inflammatory response， resisting oxidative stress， affecting calcium ion concentration， restoring mitochondrial function， and and protecting DA neurons. This article summarized the research progress of Tianma Goutengyin and its single herb in treating PD， so as to provide a reference for the prescription and medication of Tianma Goutengyin in the treatment of PD and subsequent research on the mechanisms of Tianma Goutengyin and its single herb in the treatment of PD and give play to the advantages of traditional Chinese medicine in the treatment of PD.
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The syndrome differentiation of Yin and Yang has the function of controlling the other six principles in the eight principles syndrome differentiation，which is a higher level or general induction of the disease. In the clinical process of traditional Chinese medicine，syndrome differentiation of Yin and Yang runs through the whole process of disease diagnosis and treatment. For Parkinson's disease，syndrome differentiation of Yin and Yang is particularly important. Different symptoms，the transformation of pathogenesis during the development of the disease and the treatment of traditional Chinese and western medicine all reflect the characteristics of Yin and Yang opposition restriction，mutual root and mutual use，and the transformation of ebb and flow. This article discusses the background，application and value of Yin-Yang syndrome differentiation from three aspects：the origin and application of yin-yang syndrome differentiation，the basis of Parkinson's disease syndrome differentiation，and the status and role of Yin-Yang syndrome differentiation in Parkinson's disease. It is of great significance to guide the diagnosis and treatment of Parkinson's disease with "Yin-Yang as the key point".
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Parkinson's disease (PD) is a chronic neurodegenerative disease. At present, levodopa and other drugs are mainly used for dopamine supplementation therapy. However, the absorption of levodopa in the gastrointestinal tract is unstable and its half-life is short, and long-term use of levodopa will lead to the end-of-dose deterioration, dyskinesia, the "ON-OFF" phenomenon and other symptoms. Therefore, new preparations need to be developed to improve drug efficacy, reduce side effects or improve compliance of patients. Based on the above clinical needs, this review briefly introduced the preparation modification strategies for the treatment of PD through case analysis, in order to provide references for the research and development of related preparations.
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Parkinson's disease （PD） is a common neurological degenerative disease in the middle-aged and elderly， characterized by pathological changes of progressive degeneration of dopaminergic neurons in the substantia nigra and Lewy body formation， with high prevalence and long course of disease. The drug is mainly used to treat PD in western medicine， and the early curative effect is remarkable. However， with the progression of the disease and the long-term use of the drug， the efficacy will be significantly reduced， or there may be sports complications， and the long-term efficacy is not good. As a traditional medical system， traditional Chinese medicine has a unique understanding of PD. Traditional Chinese medicine plays an important role in the treatment of PD， which is natural， mild， safe， and effective， and it can cooperate with western medicine to enhance its efficacy and reduce the adverse reactions of western medicine. The pathogenesis of PD is complex， involving multiple levels such as mitochondrial dysfunction and apoptosis. Neuroinflammation is also involved in the progressive degeneration of dopaminergic neurons in PD. The Toll-like receptor 4 （TLR4）/nuclear factor-κB （NF-κB） signaling pathway is a classic inflammatory pathway， and its expression changes play an important role in the occurrence and development of inflammatory response in the body. In recent years， the research on this pathway in TCM is increasing. This paper summarized the literature of traditional Chinese and western medicine in the past 10 years and reviewed the relevant mechanism of TCM regulation of TLR4/NF-κB pathway in the treatment of PD from the aspects of TCM monomer， compound， and other TCM therapies， so as to provide some references for the search for new targets of drug therapy and gene therapy and the in-depth study of TCM prevention and treatment of PD.
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Obｊective To investigate the protective mechanism of tricholoma matsutake polysaccharides(TMP) against 1-methy-4-pehnyl-pyridine ion (MPP
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ObjectiveTo evaluate the effect of transcranial direct current stimulation (tDCS) on the cognitive function and quality of life in patients with Parkinson's disease. MethodsRandomized controlled trials (RCTs) on tDCS for Parkinson's disease were searched in PubMed, Web of Science, Embase, Cochrane Library, CNKI, CBM, VIP and Wanfang Data from the inception to September, 2023. Control group was administered standard Parkinson's medications or placebo, physical therapy, and cognitive rehabilitation, while treatment group received tDCS additionally. The quality of the researches was evaluated using the Cochrane Risk of Bias Tool. Data synthesis and analysis were performed using RevMan 5.4 and Stata 17.0, with heterogeneity and sensitivity analyses. ResultsEight articles were included. tDCS significantly improved the scores of Montreal Cognitive Assessment (MD = 2.00, 95%CI 1.13 to 2.87, P < 0.001). However, there was no significant difference in the scores of Parkinson's Disease Questionnaire (MD = 0.73, 95%CI -5.78 to 7.23, P = 0.830), Beck Depression Inventory-Ⅱ(MD = -0.77, 95%CI -7.14 to 5.60, P = 0.810), and Unified Parkinson Disease Rating Scale-Ⅲ (MD = 1.60, 95%CI -0.77 to 3.97, P = 0.190). ConclusiontDCS may improve cognitive function of patients with Parkinson's disease.
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OBJECTIVE To explore the neuroprotective effect of sodium aescinate on rats with Parkinson’s disease by regulating the silent information regulator 1 （SIRT1）/nuclear factor-κB （NF-κB） signaling pathway. METHODS The Parkinson’s disease rat model was constructed by using 6-hydroxydopamine injection method. Forty-eight rats successfully modeled were randomly divided into model group， sodium aescinate low-dose group （1.8 mg/kg）， sodium aescinate high-dose group （3.6 mg/kg）， sodium aescinate+EX527 （sodium aescinate 3.6 mg/kg+SIRT1 inhibitor EX527 5 mg/kg） group， with 12 rats in each group. Another 12 healthy rats were selected as the sham operation group. Each group was injected with the corresponding drug solution intraperitoneally， once a day， for 21 consecutive days. Twenty-four hours after the end of the last administration， the motor and cognitive functions of rats were detected， and the morphology of neurons in the substantia nigra and CA1 region of hippocampal tissue were observed. The content of dopamine （DA） in the nigrostriatal and the expression levels of tyrosine hydroxylase （TH） and α-synuclein （α-Syn） in the substantia nigra were detected. The serum levels of pro-inflammatory factor [interleukin-6 （IL-6）， IL-18]， anti-inflammatory factor （IL-10）， and the expression levels of SIRT1， phosphorylated NF-κB p65 （p-NF-κB p65） and NF- κB p65 protein in nigrostriatal were detected. RESULTS Compared with sham operation group， the neurons in the substantia nigra and CA1 region of hippocampal tissue were seriously damaged in model group； the number of rotations， escape latency， the expression levels of α-Syn in substantia nigra， the levels of serum pro-inflammatory factors， the relative expression ratio of p-NF- κB p65 and NF-κB p65 protein in nigrostriatal were increased or prolonged significantly （P＜0.05）； the target quadrant residence time， the content of DA in nigrostriatal， the expression level of TH in substantia nigra， the serum level of anti-inflammatory factor， and the expression level of SIRT1 protein in substantia nigra striatum were significantly decreased or shortened （P＜0.05）. Compared with model group， the damage degrees of neuron in sodium aescinate groups were alleviated， and the quantitative indicators were significantly improved， which were more significant in the high-dose group （P＜0.05）； EX527 could reverse the improvement effect of high-dose sodium aescinate （P＜0.05）. CONCLUSIONS Sodium aescinate can inhibit the activation of NF-κB signal by up-regulating the protein expression of SIRT1， thereby reducing the neuroinflammation of rats with Parkinson’s disease， improving the motor and cognitive dysfunctions， and finally playing a neuroprotective role.
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Background An association between atmospheric fine particulate matter (PM2.5) exposure and Parkinson's disease (PD) has been suggested by previous studies, but the results of current epidemiological studies are still inconclusive. Objective To systematically evaluate the relationship between exposure to ambient PM2.5 and the risk of PD, as well as to explore potential influencing factors, aiming to provide scientific evidence for formulating early prevention strategies for PD. Methods Cochrane Library, PubMed, Web of Science, Medline, Embase, China National Know-ledge Infrastructure (CNKI), Wanfang Database, and VIP Chinese Science and Technology Journal Database were queried. The search terms included Parkinson's disease, particulate matter 2.5, and PM2.5 in both Chinese and English. Cohort studies examining the association between atmospheric PM2.5 exposure and the risk of PD were collected and searched from the inception of each database to June 26, 2023. The identified literature was screened, and the basic information of the included studies and their research subjects, outcome indicators, quantitative results of each study, as well as the information required by bias risk assessment were extracted. The Newcastle-Ottawa Scale was employed to assess the risk of literature bias. Meta-analysis, subgroup analysis, sensitivity analysis, and publication bias analysis were conducted in Stata 15.0 software. Results Twelve cohort studies were identified. A total of 17443136 participants with follow-up periods ranging from 3.5 to 22 years were included in the analysis. The meta-analysis, utilizing a random-effects model, revealed that PD risk was elevated by 6% after exposure to PM2.5 [HR=1.06 (95%CI: 1.02, 1.11), P=0.006]. The subgroup analysis demonstrated that exposure to PM2.5 increased PD risk by 6% in North America [HR=1.06 (95%CI: 1.00, 1.12), P=0.033] and by 17% in East Asia [HR=1.17 (95%CI: 1.02, 1.33), P=0.020]. However, the effect was not statistically significant in Europe. PD risk exhibited a 7% rise [HR=1.07 (95%CI: 1.02, 1.14), P=0.011] in individuals aged 60 years and older, which was different from that in individuals younger than 60 years. Exposure to various concentrations of PM2.5 was observed to associate with an elevated risk of PD. The inclusion of adjustments for PD-related comorbidities did not alter the conclusion that ambient PM2.5 exposure might elevate the risk of PD. The studies with a follow-up duration exceeding 5 years and reporting more than 1000 PD cases suggested a significant increase in the risk of PD due to ambient PM2.5 exposure [HR=1.06 (95%CI: 1.01, 1.12), P=0.012; HR=1.06 (95%CI: 1.01, 1.11), P=0.027, respectively]. Conversely, no significant association was identified between ambient PM2.5 exposure and the risk of PD within the cohorts with a follow-up duration of less than 5 years and reporting fewer than 1000 PD cases [HR=1.09 (95%CI: 0.95, 1.26), P=0.214; HR=1.12 (95%CI: 0.98, 1.02), P=0.092, respectively]. The sensitivity analysis showed that the results were stable. The publication bias analysis and the combined trim-and-fill method showed that the results were robust. Conclusion The risk of PD could be increased by ambient PM2.5 exposure and influenced by age and area. The research results might be affected by the duration of follow-up and the quantity of PD cases reported.
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Abstract Introduction Advanced Glycation End-Products (AGEs) are a diverse group of highly reactive molecules that play a vital role in the development of neurodegenerative disorders, such as Parkinson's Disease (PD), leading to a decline in functional and cognitive capacity. The objective of this study was to assess the intake and quantification of AGEs in individuals with PD and to correlate them with their functional and cognitive abilities. Methods This was a cross-sectional study involving 20 PD patients and 20 non-PD individuals as the Control group (C). The autofluorescence reader was used to evaluate skin AGEs, while food recall was used to quantify AGEs consumed for three different days. The Montreal Cognitive Assessment, Short Physical Performance Battery, and handgrip tests were used. PD patients demonstrated greater impairment in functional capacity compared to the control group. Results Dominant Handgrip (p = 0.02) and motor performance, in the sit and stand test (p = 0.01) and Short Physical Performance Battery (SPPB) (p = 0.01) were inferior in PD patients than the control group. Although PD patients tended to consume less AGEs than the control group, AGE intake was negatively correlated with handgrip strength in individuals with PD (r = -0.59; p < 0.05). Conclusion PD patients had lower strength and functional capacity, suggesting that the effects of AGEs might be exacerbated during chronic diseases like Parkinson's.
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Abstract Background Therapeutic adherence is a decisive issue on chronic disease management in patients requiring long-term pharmacotherapy, such as Parkinson's disease (PD). Although it is well known that socioeconomic factor is a barrier to medication adherence in many chronic diseases, its impacts on PD still need to be investigated. Objective Explore what and how socioeconomic factors impact medication adherence in people with PD. Methods We carried out a scoping review across three databases to identify studies exploring what and how socioeconomic factors impact medication adherence in people with PD considering eight attributes: 1. educational level, 2. disease-related knowledge, 3. income, 4. cost of medication, 5. drug subsidy (meaning presence of subsidies in the cost of medication), 6. employability, and 7. ethnicity (black, indigenous, immigrants). Results Of the 399 identified studies (Embase = 294, Medline = 88, LILACS = 17), eight met inclusion criteria. We identified factors covering the eight attributes of socioeconomic impact, and all of them negatively impacted the medication adherence of people with PD. The most prevalent factor in the studies was low patient educational level (four studies), followed by costs of medications (three studies), income (three studies), and disease-related knowledge (three studies). Distinctly from most of the studies selected, one of them evidenced suboptimal adherence in individuals receiving the medication free of charge, and another one could not find correlation between suboptimal adherence and educational level. Conclusion Socioeconomic factors negatively impact medication adherence in PD patients. This review provides basis for developing patient and population-based interventions to improve adherence to treatment in PD.
Resumo Antecedentes A adesão à medicação é um componente crucial no manejo correto da doença de Parkinson (DP) e, embora esteja bem estabelecido que o fator socioeconômico é uma barreira à adesão medicamentosa em muitas doenças crônicas, seus impactos na DP ainda precisam ser investigados. Objetivo Explorar quais são e como os fatores socioeconômicos afetam a adesão à medicação em pessoas com DP. Métodos Realizamos uma revisão de escopo em três bases de dados para identificar estudos que explorassem quais e como os fatores socioeconômicos impactam na adesão à medicação em pessoas com DP, considerando oito atributos: 1. nível educacional, 2. conhecimento relacionado à doença, 3. renda, 4. custo de medicamentos, 5. subsídio de medicamentos (ou seja, presença de subsídios no custo dos medicamentos), 6. empregabilidade e 7. etnia (negra, indígena, imigrantes). Resultados Dos 399 estudos identificados (Embase = 294, Medline = 88, LILACS = 17), oito preencheram os critérios de inclusão. Identificamos fatores que abrangem os oito atributos de impacto socioeconômico e todos impactaram negativamente na adesão medicamentosa de pessoas com DP. Foram mais prevalentes o baixo nível educacional do paciente (quatro estudos), custos dos medicamentos, nível de renda e conhecimento relacionado à doença (três estudos cada). Diferentemente da maioria dos estudos selecionados, um deles evidenciou adesão subótima em indivíduos que receberam a medicação gratuitamente, e outro não encontrou correlação entre adesão subótima e nível educacional. Conclusão Fatores socioeconômicos impactam negativamente a adesão ao tratamento medicamentoso em pessoas com DP. Esta revisão fornece base para o desenvolvimento de intervenções baseadas em pacientes e populações no intuito de melhorar a adesão ao tratamento farmacológico de pessoas com DP.
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Abstract Background The early identification of risk for dysphagia in patients with Parkinson's disease (PD) is essential for the prevention of nutritional and pulmonary complications. Objective To analyze the sensitivity and specificity of the Swallowing Disturbance Questionnaire (SDQ-PD) and the Eating Assessment Tool (EAT-10) in identifying dysphagia risk in patients with early and intermediate stages of PD. Methods Twenty-nine patients with PD participated in the study. EAT-10 and SDQ-PD questionnaires were applied, and a videofluoroscopic swallowing study. Dysphagia Outcome and Severity Scale (DOSS) was used to classify the presence and severity of dysphagia, and the Penetration-Aspiration Scale (PAS) was used to identify the presence of penetration/aspiration. In the statistical analysis, the sensitivity and specificity of the risk questionnaires were calculated, as well as positive predictive value, negative predictive value, and accuracy. Results EAT-10 to identify the risk of penetration/aspiration revealed a sensitivity of 71.42% and specificity of 45.45%; in the identification of the presence of dysphagia, the sensitivity was 47.61%, and the specificity was 12.5%. The SDQ-PD questionnaire for risk of penetration/aspiration demonstrated a sensitivity of 28.57%, and a specificity of 68.18%. In terms of identifying the presence of dysphagia, the sensitivity was 20%, while the specificity was 44.44%. Conclusion The SDQ-PD revealed low sensitivity and low specificity to identify the presence of dysphagia and/or penetration/aspiration in patients with early and intermediate stages of PD in this sample. Despite its low specificity, the EAT-10 exhibited good sensitivity in indicating the risk of penetration/aspiration.
Resumo Antecedentes A identificação precoce de risco para disfagia nos pacientes com doença de Parkinson (DP) é fundamental para a prevenção de complicações nutricionais e pulmonares. Objetivo Analisar a sensibilidade e especificidade dos questionários Swallowing Disturbance Questionnaire (SDQ-PD) e Eating Assessment Tool (EAT-10) para a identificação do risco de disfagia em pacientes com DP nos estágios iniciais e intermediários da doença. Métodos Participaram 29 pacientes com DP. Foi realizado a aplicação dos questionários EAT-10 e SDQ-PD e o exame de videofluoroscopia da deglutição. Para a classificação da presença e gravidade da disfagia foi utilizada a escala Dysphagia Outcome and Severity Scale e, para identificação da presença de penetração/aspiração, a escala Penetration-Aspiration Scale (PAS). Na análise estatística, calcularam-se a sensibilidade e a especificidade dos questionários de risco EAT-10 e SDQ-DP e o valor preditivo positivo, o valor preditivo negativo e a acurácia. Resultados A análise do EAT-10 para identificar o risco de penetração/aspiração revelou sensibilidade de 71.42% e especificidade de 45.45%; para identificar a presença de disfagia, a sensibilidade foi de 47,61% e a especificidade de 12.5%. Em relação ao questionário SDQ-PD, para identificar risco de penetração/aspiração, a sensibilidade foi de 28.57% e a especificidade de 68.18% e, para identificar a presença de disfagia, a sensibilidade foi de 20% e a especificidade de 44.44%. Conclusão O questionário SDQ-PD revelou baixa sensibilidade e baixa especificidade para identificar presença de disfagia e/ou penetração/aspiração em pacientes com DP em estágios iniciais e intermediários para essa amostra. O EAT-10 revelou boa sensibilidade na indicação de risco de penetração/aspiração, apesar de baixa especificidade.
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La tormenta tiroidea es un estado crítico y poco frecuente que condiciona la disfunción de múltiples órganos por el efecto del exceso de las hormonas tiroideas, esta disfunción endócrina tiene una elevada mortalidad y genera manifestaciones típicas como la taquicardia, fiebre, alteraciones gastrointestinales, cardiovasculares y del sistema nervioso central. El embarazo se ha asociado con un incremento en la incidencia de arritmias. Necesitan un tratamiento inmediato con drogas antiarrítmicas, cardioversión eléctrica o cesárea de urgencia. El WPW es una anormalidad cardiaca congénita que consiste en la presencia de un haz anómalo (Haz de Kent) que evita el sistema normal de conducción uniendo directamente aurículas y ventrículos. Veremos el caso de una gestante de 32 semanas que presenta un cuadro de tormenta tiroidea y múltiples episodios de taquicardia paroxística supraventricular (TPS), de tórpida y sombría evolución clínica mediada por un haz anómalo de Kent intermitente. Es evidente que la tormenta tiroidea en el contexto de la gestación produjo cambios en las propiedades electrofisiológicas del haz anómalo de Kent intermitente lo cual propició el desarrollo de múltiples taquicardias paroxísticas supraventriculares refractarias a la cardioversión eléctrica y farmacológica. Tampoco mejoró con la tiroidectomía total, solamente cedió por completo con la ablación por catéter de radiofrecuencia del haz anómalo de Kent.
Thyroid storm is a critical and infrequent state that conditions the dysfunction of multiple organs due to the effect of excess thyroid hormones. This endocrine dysfunction has a high mortality and generates typical manifestations such as tachycardia, fever, gastrointestinal, cardiovascular and heart disorders, and the central nervous system. Pregnancy has been associated with an increased incidence of arrhythmias. They need immediate treatment with antiarrhythmic drugs, electrical cardioversion, or emergency caesarean section. WPW is a congenital cardiac abnormality that consists of the presence of an abnormal bundle (Kent bundle) that prevents the normal conduction system, directly joining the atria and ventricles. We will see the case of a 32-week pregnant woman who presented symptoms of thyroid storm and multiple episodes of paroxysmal supraventricular tachycardia (PST), with a torpid clinical course mediated by an abnormal intermittent Kent bundle. It is evident that the thyroid storm in the context of pregnancy produced changes in the electrophysiological properties of the intermittent Kent bundle, which led to the development of multiple PST refractory to electrical and pharmacological cardioversion. Moreover, it also did not improve with total thyroidectomy, only resolved completely with radiofrequency catheter ablation of the Kent bundle.
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Objective: To examine laryngeal maximum performance through a novel pitch diadochokinetic (DDK) task in people with Parkinson's disease (PD) and healthy controls. Methods: This exploratory pilot study included a total of eight people with PD (seven male and one female) and eight healthy controls. Participants were instructed to rapidly transition or alternate between a chosen comfortable low and high pitch and were instructed to complete the task as a pitch glide. An Auditory Sawtooth Waveform Inspired Pitch Estimator-Prime model was used to first extract the pitch contour and then a customized MATLAB algorithm was used to compute and derive measures of pitch range and pitch slope. Results: Pitch range and slope were reduced in some participants with PD. Effects of age and disease duration were observed in people with PD: reductions in both pitch measures with increase in age and disease duration. Conclusions: A novel pitch DDK task may supplement the conventional laryngeal DDK task in the evaluation and treatment of motor speech and voice disorders. Individual variability analysis may provide specific diagnostic and therapeutic insights for people with PD.
Objetivo: Examinar el máximo rendimiento laríngeo a través de una novedosa tarea diadococinética de tono (DDK, por sus siglas en inglés) en personas con enfermedad de Parkinson (EP) y controles sanos. Métodos: Este estudio piloto exploratorio incluyó un total de ocho personas con EP (siete hombres y una mujer) y ocho controles sanos. Se instruyó a los participantes para que hicieran una transición rápida o alternaran entre un tono bajo y uno alto que les resultara cómodo y se les indicó que completaran la tarea como un deslizamiento de tono. Se utilizó un modelo de Estimador de Tono Inspirado en la Forma de Onda de Diente de Sierra Auditiva-Prime para extraer primero el contorno del tono y luego se utilizó un algoritmo MATLAB personalizado para calcular y derivar medidas de rango de tono y pendiente de tono. Resultados: El rango y la pendiente de tono se redujeron en algunos participantes con EP. Se observaron efectos de la edad y la duración de la enfermedad en personas con EP: reducciones en ambas medidas de tono con el aumento de la edad y la duración de la enfermedad. Conclusiones: Una nueva tarea de DDK de tono podría complementar la tarea DDK laríngea convencional en la evaluación y el tratamiento de trastornos motores del habla y de la voz. El análisis de la variabilidad individual podría proporcionar información específica de diagnóstico y terapéutica para personas con EP.
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Abstract Background Parkinson's disease (PD) may progressively reduce the upper limb's functionality. Currently, there is no standardized upper limb functional capacity assessment in PD in the rehabilitation field. Objective To identify specific outcome measurements to assess upper limbs in PD and access functional capacity. Methods We systematically reviewed and analyzed the literature in English published from August/2012 to August/2022 according to PRISMA. The following keywords were used in our search: "upper limbs" OR "upper extremity" and "Parkinson's disease." Two researchers searched independently, including studies accordingly to our inclusion and exclusion criteria. Registered at PROSPERO CRD42021254486. Results We found 797 studies, and 50 were included in this review (n = 2.239 participants in H&Y stage 1-4). The most common upper limbs outcome measures found in the studies were: (i) UPDRS-III and MDS-UPDRS to assess the severity and progression of PD motor symptoms (tremor, bradykinesia, and rigidity) (ii) Nine Hole Peg Test and Purdue Pegboard Test to assess manual dexterity; (iii) Spiral test and Funnel test to provoke and assess freezing of upper limbs; (iv) Technology assessment such as wearables sensors, apps, and other device were also found. Conclusion We found evidence to support upper limb impairments assessments in PD. However, there is still a large shortage of specific tests to assess the functional capacity of the upper limbs. The upper limbs' functional capacity is insufficiently investigated during the clinical and rehabilitation examination due to a lack of specific outcome measures to assess functionality.
Resumo Antecedentes A doença de Parkinson (DP) reduz progressivamente a funcionalidade do membro superior. Não existe uma avaliação padronizada da capacidade funcional do membro superior na DP na área da reabilitação. Objetivo Identificar medidas de resultados específicos para avaliar membros superiores na DP e avaliar capacidade funcional. Métodos Revisamos e analisamos sistematicamente a literatura publicada de agosto/2012 a agosto/2022 de acordo com PRISMA. Usamos as seguintes palavras-chave "membros superiores" OU "extremidade superior" e "doença de Parkinson." Dois pesquisadores fizeram a busca de forma independente, incluindo estudos de acordo com os critérios de inclusão e exclusão. Registro PROSPERO CRD42021254486. Resultados Encontramos 797 estudos, 50 foram incluídos no estudo(n = 2.239 participantes no estágio 1-4 de H&Y). As medidas de resultados de membros superiores mais comuns encontradas foram: (i) UPDRS-III e MDS-UPDRS, para avaliar a gravidade e a progressão dos sintomas motores da DP (tremor, bradicinesia, e rigidez); (ii) Nine Hole Peg Test e Purdue Pegboard Test para avaliar a destreza manual; (iii) Teste da Espiral e Teste do Funil para provocar e avaliar o congelamento de membros superiores; (iv) Avaliação de tecnologia, como sensores vestíveis, aplicativos e outros dispositivos também foram encontrados. Conclusão Encontramos evidências para dar suporte para as avaliações de deficiências de membros superiores na DP. No entanto, ainda há grande escassez de testes específicos para avaliar a capacidade funcional dos membros superiores. A capacidade funcional dos membros superior é insuficientemente investigada durante o exame clínico e de reabilitação devido à falta de medidas de resultados específicos para avaliar a funcionalidade.
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Resumen Objetivo: Determinar la latencia diagnóstica en la enfermedad de Parkinson (EP), así como su relación con variables clínicas y demográficas. Determinar la percepción de síntomas no motores: disfunción olfatoria, trastorno conductual del sueño MOR, depresión y estreñimiento, previos al diagnóstico de EP. Materiales y métodos: Estudio transversal realizado en Yucatán, México en sujetos con EP. Se analizó la asociación entre la latencia diagnóstica con variables clínicas y demográficas usando las pruebas estadísticas no paramétricas: U de Mann Whitney y Kruskal-Wallis. Resultados: Se incluyeron un total de 60 sujetos con una edad promedio de 66.7 años. El tiempo promedio transcurrido desde el inicio del primer síntoma motor hasta el diagnóstico fue de 20.8 meses. El tener antecedentes familiares de EP se asoció significativamente (p=0.031) con una latencia diagnóstica más prolongada en comparación con aquellos pacientes que no refirieron familiares con EP. En cualquier momento antes del diagnóstico de EP: el 36.6% de los pacientes percibieron estreñimiento, 15% depresión, 13.3% trastorno conductual del sueño MOR y 11.6% disfunción olfatoria, 51.7% no refirió ninguno. Conclusiones: La latencia diagnóstica promedio de un grupo de 60 pacientes con EP diagnosticados en Yucatán fue de 20.8 meses. La latencia diagnóstica no se asoció significativamente con el tipo de servicio médico de neurología que realizó en diagnóstico de EP (público o privado), ni con otras variables clínicas ni demográficas además del antecedente familiar de EP.
Abstract Objective: To determine the diagnostic latency in Parkinson's disease (PD), and its relationship with clinical and demographic variables. To determine the perception of non-motor symptoms: olfactory dysfunction, REM sleep behavior disorder, depression, and constipation, prior to the diagnosis of PD. Materials and methods: Cross-sectional study conducted in Yucatan, Mexico in subjects with PD. The association between diagnostic latency with clinical and demographic variables was analyzed using the non-parametric statistical tests: Mann Whitney U and Kruskal-Wallis. Results: A total of 60 subjects with a mean age of 66.7 years were included. The average time elapsed from the onset of the first sympoton to diagnosis was 20.8 months. A family history of PD was significantly associated (p=0.031) with a longer diagnostic latency compared to those patients who did not have relatives with PD. Before the diagnosis of PD: 36.6% of the patients perceived constipation, 15% depression, 13.3% REM sleep behavior disorder and 11.6% olfactory dysfunction, 51.7% did not report any. Conclusions: The mean diagnostic latency of a group of 60 patients with PD diagnosed in Yucatan was 20.8 months. Diagnostic latency was not significantly associated with the type of neurological medical service that performed the diagnosis (public or private), or with other clinical or demographic variables in addition to a family history of PD.
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ABSTRACT Background: In Parkinson's disease (PD), exosomes carry α-synuclein (α-syn), a fibrillar protein aggregates with potential value as a biomarker. Objective: Evidence on blood levels of exosomal α-syn in PD patients and controls was reviewed for their consistency. Methods: Thirty-six studies on exosomal α-syn concentrations in PD were identified in a systematic literature search and meta-analysis. Results: Both raw and ratio-adjusted blood exosomal α-syn levels were consistently higher in PD patients than in controls. The standardized mean difference (SMD) was 1.54 (0.18-2.90, CI95%, p < 0.01) and 1.53 (0.23-2.83, CI95%, p < 0.01), respectively. Conclusion: Our results suggest that exosomal α-syn concentrations could be a useful biomarker for PD.
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El SARS-CoV-2 fue registrada en la ciudad de Wuhan-China, por primera vez en diciembre de 2019. El impacto de esta nueva patología en pacientes con Enfermedad de Parkinson fue negativo, por cuanto puso al descubierto el desarrollo de complicaciones graves posteriores a esta infección, Además, el virus puede afectar indirectamente el sistema nervioso central a través de la respuesta inflamatoria y la liberación de citocinas, lo que puede tener un impacto negativo en la función neuronal, conduciendo a una mayor afectación en la calidad de vida de estos pacientes. Objetivo. Describir las complicaciones de la Enfermedad de Parkinson relacionadas con la infección por SARS-CoV-2. Metodología. Se realizó una revisión sistemática, a través de una búsqueda en bases de datos. En donde se incluyeron estudios publicados entre 2019 y 2022, que cumplan criterios de inclusión y exclusión, e informen sobre las complicaciones en pacientes con enfermedad de Parkinson. Resultados. Se procedió a la lectura de texto completo de cada artículo, siendo excluidos 13 artículos, debido a que no cumplían totalmente con criterios de inclusión, presentaban otra temática o tenían una metodología poco clara, resultados 17 como resultado. Conclusión. Es importante reconocer que el COVID-19 es una enfermedad multifacética que afecta principalmente al sistema respiratorio, pero también puede tener impactos en otros sistemas del cuerpo, incluido el sistema nervioso. Si bien se ha observado que algunos pacientes con Parkinson experimentan un empeoramiento de los síntomas motores y no motores durante la infección por COVID-19, entre los síntomas que más mayor prevalencia de complicaciones presentaron se encuentran las alteraciones del sueño, alteraciones del estado de ánimo, bradicinesia, rigidez, temblor, alteraciones de la marcha.
SARS-CoV-2 was recorded in Wuhan City-China for the first time in December 2019. The impact of this new pathology in patients with Parkinson's Disease was negative, in that it uncovered the development of severe complications following this infection, in addition, the virus may indirectly affect the central nervous system through inflammatory response and cytokine release, which may have a negative impact on neuronal function, leading to further impairment in the quality of life of these patients. Objective. To describe the complications of Parkinson's disease related to SARS-CoV-2 infection. Methodology. A systematic review was carried out through a database search. We included studies published between 2019 and 2022 that met inclusion and exclusion criteria and reported on complications in patients with Parkinson's disease. Results. We proceeded to read the full text of each article, being excluded 13 articles, because they did not fully meet inclusion criteria, presented another subject or had an unclear methodology, 17 as a result. Conclusion. It is important to recognize that COVID-19 is a multifaceted disease that primarily affects the respiratory system, but can also have impacts on other body systems, including the nervous system. While it has been observed that some Parkinson's patients experience worsening of motor and non-motor symptoms during COVID-19 infection, among the symptoms with the highest prevalence of complications were sleep disturbances, mood disturbances, bradykinesia, rigidity, tremor, gait disturbances.
O SARS-CoV-2 foi registrado na cidade de Wuhan, na China, pela primeira vez em dezembro de 2019. O impacto dessa nova patologia em pacientes com doença de Parkinson foi negativo, pois revelou o desenvolvimento de complicações graves após essa infecção. Além disso, o vírus pode afetar indiretamente o sistema nervoso central por meio da resposta inflamatória e da liberação de citocinas, o que pode ter um impacto negativo na função neuronal, levando a um maior comprometimento da qualidade de vida desses pacientes. Objetivo. Descrever as complicações da doença de Parkinson relacionadas à infecção pelo SARS-CoV-2. Metodologia. Foi realizada uma revisão sistemática por meio de uma pesquisa em banco de dados. Foram incluídos estudos publicados entre 2019 e 2022 que atenderam aos critérios de inclusão e exclusão e relataram complicações em pacientes com doença de Parkinson. Resultados. Prosseguimos com a leitura do texto completo de cada artigo e excluímos 13 artigos porque eles não atendiam totalmente aos critérios de inclusão, apresentavam um tópico diferente ou tinham uma metodologia pouco clara, resultados 17 Conclusão. É importante reconhecer que a COVID-19 é uma doença multifacetada que afeta principalmente o sistema respiratório, mas também pode ter impactos em outros sistemas do corpo, incluindo o sistema nervoso. Embora alguns pacientes com Parkinson tenham apresentado piora dos sintomas motores e não motores durante a infecção por COVID-19, os sintomas com maior prevalência de complicações incluem distúrbios do sono, distúrbios do humor, bradicinesia, rigidez, tremor e distúrbios da marcha.