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BACKGROUND: Latin America has played a crucial role in advancing our understanding of Huntington's disease (HD). However, previous global reviews include limited data from Latin America. It is possible that English-based medical search engines may not capture all the relevant studies. METHODS: We searched databases in Spanish, Portuguese, and English. The names of every country in Latin America in English-based search engines were used to ensure we found any study that had molecular ascertainment and provided general epidemiological information or subpopulation data. Additionally, we contacted experts across the region. RESULTS: The search strategy yielded 791 citations; 24 studies met inclusion criteria, representing 12 of 36 countries. The overall pooled prevalence was 0.64 per 100,000 (prediction interval, 0.06-7.22); for cluster regions, it was 54 per 100,000 (95% CI, 34.79-84.92); for juvenile HD, it was 8.7% (prediction interval, 5.12-14.35), and 5.9% (prediction interval, 2.72-13.42) for late-onset HD. The prevalence was higher for Mexico, Peru, and Brazil. However, there were no significant differences between Central America and the Caribbean versus South America. CONCLUSION: The prevalence of HD appears to be similar across Latin America. However, we infer that our findings are underestimates, in part because of limited research and underdiagnosis of HD because of limited access to molecular testing and the availability of neurologists and movement disorders specialists. Future research should focus on identifying pathways to improve access to molecular testing and education and understanding differences among different ancestral groups in Latin America. © 2024 International Parkinson and Movement Disorder Society.
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BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations. OBJECTIVES: Our goal was to assess the spectrum and frequency of pathogenic variants in known PD genes in familial PD patients from Latin America. METHODS: We selected 335 PD patients with a family history of PD from the Latin American Research Consortium on the Genetics of PD. We capture-sequenced the coding regions of 26 genes related to neurodegenerative parkinsonism. Of the 335 PD patients, 324 had sufficient sequencing coverage to be analyzed. RESULTS: We identified pathogenic variants in 41 individuals (12.7%) in FBXO7, GCH1, LRRK2, PARK7, PINK1, PLA2G6, PRKN, SNCA, and TARDBP, GBA1 risk variants in 25 individuals (7.7%), and variants of uncertain significance in another 24 individuals (7.4%) in ATP13A2, ATP1A3, DNAJC13, DNAJC6, GBA1, LRKK2, PINK1, VPS13C, and VPS35. Of the 70 unique variants identified, 19 were more frequent in Latin Americans than in any other population. CONCLUSIONS: This is the first screening of known PD genes in a large cohort of patients with familial PD from Latin America. There were substantial differences in the spectrum of variants observed in comparison to previous findings from PD families of European origin. Our data provide further evidence that differences exist between the genetic architecture of PD in Latinos and European-derived populations. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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Background: Recently, we identified barriers and facilitators to the screening and treatment of depressive and anxiety symptoms in adult-onset isolated dystonia (AOID). These symptoms are common, functionally impairing, and often underdetected and undertreated. Objectives: To develop a care pathway for mood symptoms in AOID. Methods: We used a multistep modified Delphi approach to seek consensus among healthcare professionals with experience of AOID on the screening, diagnosis, and treatment of mood symptoms. A combination of face-to-face meetings and online surveys was performed from 2019 to 2020. We created the survey and then reviewed with stakeholders before 2 rounds of Delphi surveys, all of which was finally reviewed in a consensus meeting. A purposive sample of 41 expert stakeholders from 4 Canadian provinces, including neurologists, nurses, psychiatrists, psychologists, and family physicians, was identified by the research team. Results: The Delphi process led to consensus on 12 statements that operationalized a pathway of care to screen for and manage depression and anxiety in people with AOID. Key actions of the pathway included yearly screening with self-rated instruments, multidisciplinary involvement in management involving local networks of providers coordinated by movement disorders neurologists, and access to educational resources. The Delphi panel indicated the 2 core steps as the documentation of the most recent screening outcome and the documentation of a management plan for patients who were positive at the last screening. Conclusions: This new care pathway represents a potentially useful intervention that can be used to build an integrated model of care for AOID.
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Introduction: Lumbar spinal stenosis (LSS) is a common spinal disease of aging with a growing patient population, paralleling population growth. Minimally invasive treatments are evolving, and the use of these techniques needs guidance to provide the optimal patient safety and efficacy outcomes. Methods: The American Society of Pain and Neuroscience (ASPN) identified an educational need for guidance on the prudent use of the innovative minimally invasive surgical therapies for the treatment of symptomatic LSS. The executive board nominated experts spanning anesthesiology, physiatry, orthopedic surgery, and neurosurgery based on expertise, publications, research, diversity and field of practice. Evidence was reviewed, graded using the United States Preventive Services Task Force (USPSTF) criteria for evidence and recommendation strength and grade, and expert opinion was added to make consensus points for best practice. Results: The world literature in English was searched using Medline, EMBASE, Cochrane CENTRAL, BioMed Central, Web of Science, Google Scholar, PubMed, Current Contents Connect, Scopus, and meeting abstracts to identify and compile the evidence (per section) for LSS-related pain. Search words were selected based upon the section represented. Identified peer-reviewed literature was critiqued using USPSTF criteria and consensus points are presented. Discussion: The algorithm for patient selection in the management of symptomatic spinal stenosis is evolving. Careful consideration of patient selection and anatomic architecture variance is critical for improved outcomes and patient safety. Conclusion: ASPN created a guidance for best practice for minimally invasive surgical treatment of symptomatic spinal stenosis.
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BACKGROUND AND PURPOSE: Clinically relevant anxiety and anxiety disorders are commonly associated with adult-onset isolated dystonia, contributing substantially to quality-of-life impairment in patients with this movement disorder. However, the prevalence of anxiety symptoms and disorders in adult-onset isolated dystonia remains unclear. We aimed to conduct a systematic review and meta-analysis of the prevalence of anxiety symptoms/disorders in adult-onset isolated dystonia. METHODS: Studies reporting the prevalence of anxiety disorders determined through diagnostic interviews or from clinically relevant anxiety symptoms detected with rating scales were identified in three databases (MEDLINE, EMBASE and PsycINFO). The gray literature was also examined to detect studies not captured through the search strategy. RESULTS: The search strategy yielded 6535 citations; 34 studies met the inclusion criteria. The overall prevalence of clinically relevant anxiety symptoms and anxiety disorders for cervical dystonia was 40% (95% confidence interval [CI] 20% to 60%); for studies examining cranial dystonia it was 25% (95% CI 21% to 30%); for studies exploring mixed populations of adult-onset isolated dystonia it was 33.3% (95% CI 22% to 43%), 26% (95% CI 12% to 40%) for laryngeal dystonia, and 32% (95% CI 21% to 43%) for upper limb dystonia. Social phobia was the most prevalent anxiety disorder across the different forms of adult-onset isolated dystonia. Between-study statistical heterogeneity was high for most prevalence estimates. CONCLUSIONS: Clinically relevant anxiety and anxiety disorders are common across all forms of adult-onset isolated dystonia. New research avenues should explore and plan the development of pathways of care targeting these important non-motor features.
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Trastornos Distónicos , Tortícolis , Adulto , Ansiedad/epidemiología , Trastornos de Ansiedad/epidemiología , Trastornos Distónicos/epidemiología , Humanos , PrevalenciaRESUMEN
Adult onset idiopathic dystonia (AOID) is the third most common movement disorder in adults. Co-existing depressive symptoms and disorders represent major contributors of disability and quality of life in these patients, but their prevalence remains unclear. We investigated the point prevalence of supra-clinical threshold depressive symptoms/depressive disorders in AOID in a systematic review with qualitative synthesis and meta-analysis. Our search identified 60 articles suitable for qualitative synthesis and 54 for meta-analysis. The overall pooled prevalence of either supra-clinical threshold depressive symptoms or depressive disorders was 31.5 % for cervical dystonia, 29.2 % for cranial dystonia, and 33.6 % for clinical samples with mixed forms of AOID. Major depressive disorder was more prevalent than dysthymia in cervical dystonia, whereas dysthymia was more prevalent in cranial dystonia. In cervical dystonia, the prevalence of supra-clinical threshold depressive symptoms screened by rating scales was higher than that of depressive disorders diagnosed with structured interviews. Prevalence studies using rating scales yielded higher heterogeneity. More research is warranted to standardize screening methodology and characterization of mood disorders in AOID.
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Trastorno Depresivo Mayor , Trastornos Distónicos , Adulto , Depresión/epidemiología , Trastornos Distónicos/epidemiología , Humanos , Prevalencia , Calidad de VidaRESUMEN
BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has drastically altered daily living and medical care for Ohio residents and the practice of medicine for the interventional pain management physician. As a state, Ohio tends to be demographically representative of the broader US population. OBJECTIVE: Reviewing the efforts deployed by Ohio to flatten the COVID-19 infection curve and reduce the spread of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is an important component of determining optimal procedures for mitigating the effects of the COVID-19 pandemic. METHODS: Over the course of several announcements and orders during the months of March and April, new policies were put into place to prevent COVID-19 transmission, which included efforts to facilitate social distancing and ensure the health care system could manage the number of COVID-19 cases at peak infection rate. Efforts directed toward medical providers included delay of elective procedures, expansion of telehealth options, and new temporary guidance for prescribing controlled substances. RESULTS: The Ohio COVID-19 containment approach resulted in a substantial reduction in COVID-19 cases compared with early models of disease spread, and the state has begun a phased reopening. Continued vigilance in applying social distancing and infection control measures will be a critical component of preventing or reducing the impact of a second wave of COVID-19 in Ohio. LIMITATIONS: A narrative review with paucity of literature.
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Control de Enfermedades Transmisibles/métodos , Infecciones por Coronavirus/prevención & control , Manejo del Dolor , Pandemias/prevención & control , Neumonía Viral/prevención & control , Betacoronavirus , COVID-19 , Infecciones por Coronavirus/transmisión , Humanos , Ohio , Neumonía Viral/transmisión , SARS-CoV-2Asunto(s)
Hospitales Especializados , Trastornos del Movimiento/diagnóstico , Trastornos del Movimiento/terapia , Adulto , Anciano , Anciano de 80 o más Años , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/epidemiología , Trastornos Distónicos/terapia , Femenino , Honduras/epidemiología , Hospitales Especializados/organización & administración , Hospitales Especializados/estadística & datos numéricos , Humanos , Masculino , Persona de Mediana Edad , Trastornos del Movimiento/epidemiología , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/epidemiología , Enfermedad de Parkinson/terapiaRESUMEN
OBJECTIVE: To determine the utility of an electronic diary for registering motor fluctuations and dyskinesia in Parkinson disease (PD). METHODS: Free, open-access touch screen software suitable for Android 4.4 or higher, with medication alarms, adjustable intervals, and medication dose settings was developed to evaluate ON-OFF periods and dyskinesia. Prospective evaluation included a first phase conducted to make adjustments concerning motor limitations when using the tablet, as well as for proper motor complication identification, and a second phase of 3 days of use at home with a prior diary training session comparing a modified paper version of Core Assessment Program for Surgical Interventional Therapies in PD and the electronic diary. RESULTS: All patients correctly identified ON-OFF periods and dyskinesia. Rater/patient matching ON-OFF fluctuations ranged between 94% and 100% for evaluations of different motor states. Dyskinesia matching percentage was 100% for patients with dyskinesia interfering with activities of daily living and 88% for those who reported no-interference. No significant differences between paper and electronic diaries were identified when reporting ON-OFF motor states or in the number of errors when filling the diaries. CONCLUSIONS: This electronic motor diary proved to be reliable for ON-OFF state and dyskinesia identification and classification. However, no advantage to paper diary has been observed in terms of number of erroneous entries. Based on these results, to improve home motor fluctuations, detection efforts should be directed toward the development of automatic wearable devices rather than digital versions of current available ON-OFF diaries.
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Discinesias/diagnóstico , Discinesias/etiología , Registros Electrónicos de Salud , Enfermedad de Parkinson/complicaciones , Actividades Cotidianas , Anciano , Discinesias/clasificación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Índice de Severidad de la EnfermedadRESUMEN
Weight lossisa multifactorial disorder commonly affecting Parkinson's disease patients. The aim of this study was to investigate the relationship between body weight, nutritional status, physical activity, and Parkinson's disease-related factors. A total of 114 consecutive Parkinson's disease patients without dietary restrictions were evaluated prospectively with respect to: nutritional status (Mini Nutritional Assessment), physical activity level (Yale Physical Activity Survey), MDS-UPDRS score, olfactory function, depression, cognitive functionand impulse-control disorders, among other variables. Structural equation modeling was used to build multivariate models and to calculate standardized regression weights (srw) for pairs of variables, which are homologous to correlation coefficients, taking into account the effects of all other variables in the model. Sixty (53%) patients were males. Mean age was 66.1 ± 9.8 years and mean disease duration was 8.3 ± 5.6 years. Longer disease duration was negatively related to nutritional status (srw = -0.25; p = 0.01). UPDRS II + III score was associated with reduced cognitive function (srw = -0.39; p = 0.01), which was positivelyrelated to nutritional status (srw = 0.23; p = 0.01). Finally, nutritional status was positively related to body weight (srw = 0.22, p < 0.01). Binge eating and physical activity were also directly and positively related to body weight (srw = 0.32; p = 0.001 and srw = 0.23; p = 0.001). Nutritional status, binge eating and physical activity were directly and independently related to body weight in our sample of Parkinson's disease patients. Therefore, physicians should actively explore nutritional status and binge eating in Parkinson's disease patients to avoid alterations in body weight regulation. Effects of physical activity should be further explored.
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Trastornos Congénitos de Glicosilación/fisiopatología , Fosfotransferasas (Fosfomutasas)/deficiencia , Tortícolis/fisiopatología , Adulto , Trastornos Congénitos de Glicosilación/diagnóstico , Trastornos Congénitos de Glicosilación/tratamiento farmacológico , Diagnóstico Diferencial , Femenino , Humanos , Fenotipo , Hermanos , Tortícolis/diagnóstico , Tortícolis/tratamiento farmacológicoRESUMEN
BACKGROUND: Normosmic Parkinson's disease (PD) might be a unique clinical phenotype with a more benign course when compared with hyposmic PD. OBJECTIVE: The objective of this study was to evaluate motor features and the acute levodopa response according to olfactory function. METHODS: A total of 169 de novo PD patients that underwent olfactory testing and acute levodopa challenge for clinical prediction of sustained long-term dopaminergic response were evaluated. RESULTS: The overall frequency of normosmia was 33%. Normosmic PD patients scored nonsignificantly different to hyposmic/anosmic patients on motor scale and on degree of improvement with levodopa. Motor scores at follow-up were comparable among groups. CONCLUSIONS: Normal olfactory function is common in early PD and was not associated with a different motor phenotype when compared with PD patients with olfactory dysfunction. © 2016 International Parkinson and Movement Disorder Society.