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INTRODUCTION: X-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been studied well in recent years. OBJECTIVES: This scoping review aimed to describe the current state of knowledge about the diagnosis and treatment of XDP, to provide clinicians with a concise and up-to-date overview. METHODS: We conducted a scoping review of pertinent literature on the diagnosis and treatment of XDP using Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines. RESULTS: There were 24 articles on diagnostic methods and 20 articles on therapeutic interventions for XDP, with 7 review articles describing both. The detection of the SVA retrotransposon insertion within the TAF1 gene is confirmatory for XDP. Oral medications are marginally effective. Chemodenervation with botulinum toxin is an effective treatment. Pallidal deep brain stimulation (DBS) has been shown to provide significant improvement in the dystonia and quality of life of patients with XDP for a longer time. A less invasive surgical option is the transcranial magnetic resonance-guided focused ultrasound (tcMRgFUS), which has shown promising effects with the limited number of case reports available. CONCLUSION: XDP is a geneti disorder characterized by striatal symptoms and pathology on neuroimaging. No effective oral medications are available for the management of XDP. The use of botulinum toxin is limited by its cost and duration of effects. As of now, pallidal DBS is deemed to be the best option. Another promising option is the tcMRgFUS but still has limited studies on its safety and efficacy in XDP.
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Toxinas Botulínicas , Distonía , Trastornos Distónicos , Enfermedades Genéticas Ligadas al Cromosoma X , Humanos , Trastornos Distónicos/diagnóstico , Trastornos Distónicos/genética , Trastornos Distónicos/terapia , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/terapia , Calidad de VidaRESUMEN
Due to the real-time acquisition of big data from the Internet, analysis of Google queries is now recognized as a valuable tool to explore and predict human behavior and interests. It was suggested that online data can be correlated with actual health data. Although the data are not structured nor systematic, the huge data from search engines can easily identify trends concerning diseases and other health concepts from a population perspective. Moreover, Internet data with the use of web search advertising nowadays may not only reveal the interest of the general population but also of the healthcare industry as reflected by the bid prices in search terms for medications. We aimed to compare the interests of the general population using monthly search volumes from Google and the healthcare industry using bid prices in web searches. Data used in this study were obtained from the Google Ads Application Programming Interface (API). This study evaluated the population's interest in neurological disorders by using search volumes related to neurology, either disease diagnosis or medications. Bid values generated in API were used as a proxy for the interests of the healthcare industry. Spearman's rank-order correlation was performed between search volumes and bid prices to determine significance. Among the neurologic diseases listed, the most searched were attention deficit hyperactivity disorder, migraine, and Alzheimer's disease. The most commonly searched drugs were oral antihypertensives (amlodipine, losartan, carvedilol), lipid-lowering agents (atorvastatin, simvastatin, rosuvastatin), and antiplatelets (acetylsalicylic acid, clopidogrel). The other most searched drugs were analgesics such as acetaminophen, tramadol, diclofenac, and morphine. The correlational analysis did not reveal a statistically significant correlation between search volume and bid price for both neurologic diseases and medications. Web searches may reflect the interest of the general population and the healthcare industry. However, there was disagreement in the search interests of the general population and the scientific community, including the pharmaceutical industry. Further studies are necessary in order to align these interests for the common benefit of all stakeholders.
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Enfermedades del Sistema Nervioso , Humanos , Filipinas/epidemiología , Motor de Búsqueda , InternetRESUMEN
BACKGROUND: The conduct of patient consults greatly changed during the time of the COVID-19 pandemic. There was a decrease in face-to-face patient consults and enhanced utilization of virtual consults. Infodemiological studies, using Google Trends, focus on internet search trends that may reflect public interest and awareness in diseases and as a proxy of public health risk perception. OBJECTIVES: We aimed to investigate the online behavior of internet users on teleneurology, telehealth, and telemedicine during the time of the pandemic, as reflected in search volume indices (SVI) projected in Google Trends. METHODS: We used the data from Google Trends to quantify the interest of internet users in teleneurology, telehealth, and telemedicine. These keywords were entered in Google Trends as search terms. Data included were searches conducted from 2016 to 2020 to depict the transition into the pandemic. RESULTS: The SVI of teleneurology was unchanged during the 5-year period search relative to the SVIs of telehealth and telemedicine. Contrary to the noted worldwide increase in the SVI of telehealth and telemedicine during the year of pandemic, teleneurology's SVI remained stable despite the increase of its utilization. Focusing on teleneurology, the highest SVI was observed in 2018. CONCLUSION: There was an increase in the SVI of telehealth and telemedicine, possibly implying an increase in the general awareness of these virtual methods of health care, as catalyzed by the pandemic. However, the stable SVI of teleneurology may signify that the public awareness regarding it remained unchanged despite the increase in application in clinics and hospitals.
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COVID-19 , Neurología/tendencias , Telemedicina/tendencias , Hospitales , Humanos , Neurología/métodos , Pandemias , Telemedicina/métodosRESUMEN
INTRODUCTION: Central nervous system (CNS) metastasis from nasopharyngeal carcinoma (NPC) is rare and presents with high morbidity and mortality. As a rare entity, a few patients with CNS metastasis from NPC have been reported, and no studies were available on treatment and prognosis. Based on our clinical experience, early diagnosis with incorporation of a clear palliative plan is imperative in providing holistic care for patients with locally-invasive and metastatic nasopharyngeal carcinoma. CASE REPORT: Our study reports a case of a 48-year-old Filipino male with known NPC Stage IVB who developed acute symptoms of constipation, urinary retention, and bilateral lower limb weakness and numbness. Magnetic resonance imaging showed intramedullary lesions in multiple segments of the spinal cord. Steroid and radiotherapy of the spine were initiated with noted transient improvement of the motor strength. Subsequently, he developed cancer-related stroke. The patient progressively deteriorated despite best medical care.