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1.
J Homosex ; : 1-16, 2024 Jul 31.
Artículo en Inglés | MEDLINE | ID: mdl-39083049

RESUMEN

The study aimed to describe the preparedness of active members of the Philippine Neurological Association (PNA) in providing medical care to LGBTQ+ patients. We electronically sent out a 21-item self-administered online survey adapted from the 2019 American Academy of Neurology LGBTQ+ Survey Task Force to 511 active members of PNA that included questions about demographic information, knowledge, attitude, and clinical practices. Descriptive statistics were used to analyze variables. Text responses were transcribed and summarized. Seventy-nine (15.5%) of 511 PNA members participated. Most participants were aware of local (53%) and national (56%) barriers that preclude patients in the LGBTQ+ sector from accessing quality health care. The majority (90%) of participants agreed that LGBTQ+ patients experience disproportionate levels of physical and psychological problems. Forty-two percent (42%) of respondents believed that sexual and gender issues have no bearing on neurological management, although a majority (53%) reported individualizing their management considering these issues. The majority were cognizant of the challenges that LGBTQ+ patients face in the health care system. However, awareness has not translated into modifications in neurological management. The openness of the participants to educational opportunities concerning health care related to LGBTQ+ can be leveraged to address this gap.

2.
Neurol Sci ; 43(2): 811-819, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34729643

RESUMEN

BACKGROUND AND OBJECTIVES: The practice of teleneurology provided an accessible and safe method of consultation during the COVID-19 pandemic. We aimed to describe the practice of teleneurology among Filipino neurologists and determine the factors affecting its adoption using the unified theory of acceptance and use of technology (UTAUT) model and its constructs, namely performance expectancy, effort expectancy, social influence, and facilitating conditions. METHODS: This was a cross-sectional survey conducted online last October 2020 involving adult and pediatric neurologists in the Philippines. The internal consistency of the questionnaire adapted from UTAUT model was determined using Cronbach's alpha. We performed logistic regression analysis to determine which constructs of the UTAUT model were significant factors on the intent to practice teleneurology. RESULTS: The study yielded a 28.8% response rate. Among the respondents (n1 = 147), 95.2% (n2 = 140) practiced teleneurology during the pandemic, and 77.6% (n1 = 147) planned to continue it after the pandemic. Teleneurology was mostly done on an outpatient basis on social media platforms via videoconferencing due to easier access for both end-users. The UTAUT model explained 80.9% (95% CI 0.76, 0.86a) of the total variation. Performance expectancy and facilitating conditions affect the intent to use teleneurology. CONCLUSIONS: Due to the limited resources and knowledge of its practice, infrastructural support and benefit awareness campaigns would be beneficial to increase its adoption, especially in developing countries.


Asunto(s)
COVID-19 , Telemedicina , Adulto , Niño , Estudios Transversales , Humanos , Pandemias , Filipinas/epidemiología , SARS-CoV-2
3.
Neurohospitalist ; 11(2): 141-147, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33791058

RESUMEN

BACKGROUND: Wernicke-Korsakoff syndrome (WKS) is a triad of ophthalmoplegia, ataxia and memory deficits due to thiamine insufficiency resulting from under- or untreated Wernicke's encephalopathy (WE), which may be associated with hyperemesis gravidarum (HEG). CASE PRESENTATION: We present a case of a 36-year-old Filipino woman in her first trimester with HEG, along with the WKS triad and abnormal hyperintense signals in the bilateral thalami and midbrain, left occipital lobe, periaqueductal gray matter and pontine periventricular areas. Neurologic deficits partially improved but persisted despite intravenous thiamine administration. EVIDENCE REVIEW: A review of current treatments for WE, and the prevention and neurocognitive recovery of WKS was done. The beneficial effects of thiamine for acute WKS are supported by several case reports and clinical experience. Evidence from one randomized controlled trial wherein thiamine was given in various doses for treating WE or preventing WKS in an alcohol-dependent population is limited by methodological issues. Rehabilitation and pharmacotherapy for neurocognitive recovery seems promising, but they have inadequate evidentiary support. More robust studies on multi-modal strategies are warranted to facilitate the neurocognitive recovery of patients with WKS.

5.
Mult Scler Relat Disord ; 33: 22-32, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31136907

RESUMEN

BACKGROUND: Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory and autoimmune disorder of the central nervous system that typically presents with optic neuritis and myelitis. Azathioprine (AZA) is one of the available immunotherapies with purported beneficial effects for patients with NMOSD. At present, there are no systematic reviews that extensively pooled the effects of AZA compared to other interventions for this condition. The objective of this study, therefore, is to determine the efficacy and safety of AZA in patients with NMOSD using systematic review of relevant studies. METHODS: Major health electronic databases, which included CENTRAL, MEDLINE, EMBASE, Scopus, LILACS, ClinicalTrials.gov, and HERDIN, were searched from May 2017 to November 2018 for relevant studies involving adult and pediatric patients with NMOSD. Randomized controlled trials, and either prospective or retrospective cohort designs that assessed the reduction or prevention of relapse or disability and the occurrence of adverse events related to AZA use compared to placebo or to other active drugs were considered. Assessment of risk of bias was performed using the Cochrane Collaboration tool and Newcastle-Ottawa Scale. RESULTS: From a total of 273 records, 9 relevant studies (1 randomized controlled trial (RCT), 3 prospective cohort studies, 5 retrospective studies) which involved a total of 977 patients, were included. One RCT and several observational studies revealed that AZA regimen may be inferior to rituximab in terms of annualized relapse rate, reduction of disability as measured by the expanded disability status scale (EDSS), risk for relapse and relapse-free rate. Efficacy data were very limited in the comparison of AZA to mycophenolate mofetil (MMF), to cyclophosphamide, and to interferon-ß for patients with NMOSD. Occurrence of any adverse event, elevated liver enzymes/hepatoxicity, leukopenia and hair loss associated with AZA use were significantly greater compared to MMF, which may lead to medication noncompliance. CONCLUSION: AZA improves relapses and disability in patients with NMOSD but this regimen is associated with relatively frequent adverse events based on limited published evidences. More well-conducted clinical trials are necessary to establish with certainty the beneficial and harmful effects of AZA in patients with NMOSD.


Asunto(s)
Azatioprina/uso terapéutico , Inmunosupresores/uso terapéutico , Neuromielitis Óptica/tratamiento farmacológico , Humanos
6.
J Neuroimmunol ; 332: 126-134, 2019 07 15.
Artículo en Inglés | MEDLINE | ID: mdl-31005713

RESUMEN

The review assessed the efficacy and tolerability of mitoxantrone in patients with neuromyelitis optica spectrum disorder (NMOSD). Eight articles were reviewed with a total of 117 patients. Annualized relapse rate and progression of disability dramatically decreased post-treatment in most studies. Mitoxantrone was generally tolerated. Only one patient developed acute myeloid leukemia, which lead to septicemia and death. No serious cardiotoxicity was reported. Mitoxantrone may be effective in reducing the frequency of relapse and slowing down the progression of disability in patients with NMOSD. The risk of cardiotoxicity and leukemia detains it as a second-line agent for NMOSD.


Asunto(s)
Inmunosupresores/uso terapéutico , Mitoxantrona/uso terapéutico , Neuromielitis Óptica/tratamiento farmacológico , Cardiomiopatías/inducido químicamente , Progresión de la Enfermedad , Estudios Epidemiológicos , Humanos , Inmunosupresores/efectos adversos , Infecciones/etiología , Sustancias Intercalantes/efectos adversos , Sustancias Intercalantes/uso terapéutico , Leucemia Mieloide Aguda/etiología , Leucopenia/inducido químicamente , Mitoxantrona/efectos adversos , Ensayos Clínicos Controlados Aleatorios como Asunto , Recurrencia , Inhibidores de Topoisomerasa II/efectos adversos , Inhibidores de Topoisomerasa II/uso terapéutico , Resultado del Tratamiento
7.
Front Neurol ; 9: 991, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30519214

RESUMEN

[This corrects the article DOI: 10.3389/fneur.2018.00830.].

8.
Front Neurol ; 9: 830, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30374324

RESUMEN

Objectives: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the island of Panay in the Philippines. We undertook a population-based prevalence study to enumerate all cases of XDP in Panay. We first developed a 4-item questionnaire to distinguish XDP suspects from the general population. In the present study we aimed to revalidate this questionnaire to distinguish XDP from similar conditions so as to give it greater utility in the clinical setting. Patients and Methods: A total of 306 subjects (114 cases and 192 controls) were screened in from the 16 towns and 1 city of Capiz province. Their responses to the previously developed 4-item questionnaire were collected and multivariable logistic regression was performed to develop a predictive model. The accuracy of the model was determined by using it on a subset of patients; then, a scoring system based on the model coefficients was established. Results: With a cut-off score of 6, the questionnaire had an accuracy of 70.7% (95% CI 0.57-0.82), a sensitivity of 84.6 % (95% CI 0.65-0.96) and a specificity of 59.4 % (95% CI 0.41-0.76). The item on "shuffling of feet" was the strongest predictor in distinguishing XDP from its common mimics. Conclusion: We were able to revalidate a simple, four-item questionnaire that could distinguish XDP from its common mimics with fair accuracy. The questionnaire along with other clinical features can be used to determine which patients need specialty evaluation and genetic testing to verify a diagnosis of XDP.

9.
NPJ Parkinsons Dis ; 3: 24, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28761929

RESUMEN

X-linked dystonia-parkinsonism(XDP) is a neurodegenerative disorder endemic to the Philippines. A rating scale was developed by the authors under the guidance of the Movement Disorder Society of the Philippines (MDSP) to assess XDP severity and progression, functional impact, and response to treatment in future clinical trials. Our main objective was to validate our new scale, the XDP-MDSP scale. The initial validation process included pragmatic testing to XDP patients followed by a modified Delphi procedure with an international advisory panel of dystonia, parkinsonism and scale development experts. Pearson correlation was used to assess construct validity of our new scale versus the assess construct validity of our new scale versus standard dystonia, parkinsonism, non-motor and functional scales; and also to assess divergent validity against behavioral and cognitive scales. The 37-item XDP-MDSP scale has five parts: I-dystonia, II-parkinsonism, III-non-motor features, IV-ADL, and V-global impression. After initial validation, the scale was administered to 204 XDP patients. Inter-domain correlation for the first four parts was acceptable. The correlation between these domains and the global rating was slightly lower. Correlations between Parts I, II, III, and IV versus standard dystonia, parkinsonism, non-motor and functional scales were acceptable with values ranging from 0.323 to 0.428. For divergent validity, a significant correlation was seen with behavioral scales. No significant correlation was noted with the cognitive scale. The proposed XDP-MDSP scale is internally valid but the global rating subscale may need to be modified or eliminated. While there is convergent validity, divergent validation was successful only on cognitive and not behavioral scales. The frequent co-occurrence of anxiety and depression, and its effect on the motor and functional state, may explain this finding.

10.
Acta Medica Philippina ; : 121-125, 2017.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633394

RESUMEN

BACKGROUND: Locally, understanding and communicating sensory neuropathy may be confounded by a "comprehension gap" during consults and limited "nerve literacy" or knowledge of patients about nerves. This may affect the effectiveness of healthcare.OBJECTIVE: The study aims to describe the Filipino patients' experience of sensory neuropathy in local terms and their understanding of its causation.METHODS: A cross-sectional, descriptive study among 24 patients with sensory neuropathy was done using semi-structured individual interviews. The first part elicited Filipino terms and descriptions used to explain their experience. The second part elicited perceived cause pre- and post- consult and perceived body part affected.RESULTS: The most common descriptors of sensory neuropathy include "manhid", "kuryente", "tinutusuk-tusok", "ngalay", "kirot", and "naninigas". Many would initially identify "pasma" as a cause. Post-consult, many would cease to see it as part of natural ageing and would identify structural explanations such as impingement. They would however attribute it to an affectation of "ugat" which most defined as blood vessels.CONCLUSION: The abovementioned terms are commonly used to describe sensory neuropathy and can be clinically useful in eliciting symptoms. There is existing confusion with regards to the nerve as a structure involved even after consultation.


Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Comprensión , Cuerpo Humano , Alfabetización , Confusión , Percepción , Tejido Nervioso , Conocimiento , Derivación y Consulta
11.
Acta Medica Philippina ; : 61-64, 2017.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633383

RESUMEN

@#<p style="text-align: justify;"><strong>BACKGROUND:</strong> Medication errors are preventable events that can cause or lead to inappropriate drug use. Knowing the prevalence and types of errors can help us institute corrective measures and avoid adverse drug events.<br /><strong>OBJECTIVE:</strong> This study determined the prevalence of medication errors and its specific types in the four main service wards of a tertiary government training medical center.<br /><strong>METHODS:</strong> This is a retrospective, descriptive chart review study. From the master list of admissions, systematic sampling was done to retrieve the required number of charts. Relevant pages such as order sheets, nurses' notes, therapeutic sheets were photographed. For prolonged admissions, only the first 7 days were reviewed. Each chart was evaluated by two people who then met and agreed on the errors identified.<br /><strong>RESULTS:</strong> The overall prevalence of medication errors is 97.8%. Pediatrics had the most (63.3/chart), followed by Medicine, OB-Gynecology, and Surgery (7.3/chart). The most common type of errors identified were prescribing, followed by compliance, then administration errors.<br /><strong>CONCLUSION:</strong> Medication errors are present in the four main wards in our hospital. We recommend orientation of all incoming first year residents on proper ordering and prescribing of drugs, as well as a prospective observational study to determine true prevalence of all types of medication errors.</p>


Asunto(s)
Errores de Medicación
12.
Acta Medica Philippina ; : 79-85, 2017.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633387

RESUMEN

@#<p style="text-align: justify;"><strong>BACKGROUND:</strong> Migraine is a highly common disorder that can cause significant disability on an individual, which collectively may lead to a substantial burden for the society. Various expert societies have recommended Acetaminophen/Aspirin/Caffeine (AAC) combination regimen as the first-line drug treatment for migraine attacks; however, there were no pooled evidences summarizing the effectiveness and tolerability of this regimen.<br /><strong>OBJECTIVE:</strong> To determine the effectiveness and tolerability assessment of oral AAC combination regimen as an acute treatment for migraine in adults.<br /><strong>METHODS:</strong> Relevant studies from inception to March 2014 were searched in Cochrane CENTRAL, MEDLINE, LILACS, Scopus and metaRegister of Controlled Trials. The Cochrane Collaboration's tool for the assessment of risk of bias was employed. Trials that were randomized, double-blind, parallel-group, placebo and active-controlled were included and the data were employed for meta-analysis. To evaluate the quality of evidence, the GRADE approach was utilized for outcomes with sufficient studies and data.<br /><strong>RESULTS:</strong> From 225 records identified, 4 trials were included in this review, with a total of 3,608 participants with recorded baseline characteristics. Patient-reported migraine intensity was moderate-severe and the AAC dose used was at 500/500/130 mg. At 2 hours, AAC regimen was statistically different and found to be superior to placebo in terms of pain-free, headache relief, nausea-free, photophobia-free, phonophobia-free and functional disability reduction rates using intension-to-treat analysis. Missing data did not alter the outcome measures generating robust results. Sumatriptan 100 mg was found to be better than AAC in pain-free rate, and phonophobia-free rates at 2 hours. Statistically more patients in the AAC arm experienced "any adverse event" compared to placebo and complaints were commonly nausea and nervousness.<br /><strong>CONCLUSION:</strong> For adult individuals with moderate-severe migraine, a fixed oral dose of Acetaminophen/Aspirin/Caffeine (AAC 500/500/130 mg) may be used as first-line therapy for the acute treatment of migraine and is only associated with mild, infrequent adverse events.</p>


Asunto(s)
Acetaminofén , Aspirina , Cafeína , Migraña sin Aura , Migraña con Aura , Trastornos Migrañosos
13.
Acta Medica Philippina ; : 327-333, 2017.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-732122

RESUMEN

@#<p style="text-align: justify;"><strong>BACKGROUND:</strong> Dysphagia is common among post-stroke patients,causing disability due to malnutrition and pneumonia. Repetitive transcranial magnetic stimulation (rTMS) is a novel treatment modality to address this complication.</p><p style="text-align: justify;"><strong>OBJECTIVE:</strong> The study aimed to compare real versus sham rTMS in treating post-stroke dysphagia.</p><p style="text-align: justify;"><strong>METHODS:</strong> PubMed, Ovid, ClinicalKey, Herdin, and Google Scholar databases were searched from their earliest record to 31 July 2015 for randomized controlled trials that used rTMS to treat post-stroke dysphagia. The Jadad scale was used to assess the quality of the studies. The weighted mean difference (WMD) between baseline and post-treatment mean for Penetration Aspiration Scores (PAS) measured in the experimental and control groups were extracted for subsequent meta-analyses.</p><p style="text-align: justify;"><strong>RESULTS:</strong> Three studies were analyzed. The WMD in PAS score between rTMS and control using liquid bolus two weeks after treatment in two good quality studies was -1.14 (95% confidence interval (CI) = -1.80 - -0.48, P = 0.001, I2 = 0.0%), and after four weeks was -1.83 (CI = -3.22 - -0.44, P = 0.010, I2 = 0.0%).</p><p style="text-align: justify;"><strong>CONCLUSION:</strong> Treatment of post-stroke dysphagia with rTMS improved PAS on subgroup analyses of studies using liquid bolus after two weeks, and between real and sham treatment after four weeks.?</p>


Asunto(s)
Humanos , Masculino , Femenino , Anciano , Persona de Mediana Edad , Adulto , Trastornos de Deglución , Estimulación Magnética Transcraneal , Accidente Cerebrovascular , PubMed , Investigación Cualitativa , Neumonía , Desnutrición
14.
Acta Medica Philippina ; : 215-222, 2016.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633623

RESUMEN

OBJECTIVES: The objectives of the research study were to determine ethical guidelines and principles applicable in the practice and research of eHealth and telehealth in the Philippines, how these are applicable to the Philippines, and to differentiate between the ethical issues in research and in clinical practice of eHealth. METHODS: This research study used: 1) review of ethics manuscripts, guidelines and literature; 2) focused group discussion and key informant interviews of experts; and 3) triangulation. The information sought for the review were- 1) relevant policies, guidelines in eHealth that are pertinent to the discussion of eHealth ethics in the Philippines; 2) components of ethics in eHealth research; and 3) components of ethics in eHealth practice. The framework of the consultation with experts was to identify mechanisms and strategies in incorporating ethics in both eHealthpractice and eHealth research within the following- 1) in reference to existing laws, policies, and guidelines on ethics in medicine and health; and 2) in the context of the Philippine setting. RESULTS: Based on the review, there are pertinent codes of ethics, applicable laws, policies and guidelines in eHealth, both in the international and local settings. The focus group discussion and key informant interview with experts yielded significant and deeper understanding on how to address the gaps and lapses of ethics applied to eHealth in the country. These recommendations were given which distinguish between the ethics in clinical practice and ethics in the planning and implementation of eHealth systems. There is also a need to resolve the problem of whose primary responsibility the patient is- the referring, commonly referred to as the attending physician in the local community, or the specialist from the center. The proposed resolution was also presented. CONCLUSION: The study has shown how important eHealth in potentially promoting timely and improved health care access. However, there are still lapses and gaps in the implementation of policies and guidelines on and relating to eHealth in the Philippines as shown by the data culled from the review and the focus group discussions with the experts. With more specific ethical guidelines and relevant policies, the development and practice of eHealth and telehealth will be on its way in bridging the gap and aiding in health systems development in the Philippines, especially with the support of the national government and collaboration of various agencies and stakeholders.


Asunto(s)
Humanos , Gobierno Federal , Grupos Focales , Códigos de Ética , Filipinas , Telemedicina , Atención a la Salud , Derivación y Consulta
17.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633151

RESUMEN

Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first described in Filipino males from Panay Island in 1975. XDP manifests predominantly as torsion dystonia, later combined with or sometimes replaced with parkinsonism. Within the Island of Panay, the preva-lence rate is highest in the province of Capiz, where 1:4000 men suffer from the disorder. There is a high degree of penetrance and generalization. While women often serve as carriers, XDP is not limited to men. An updated XDP Philippine registry (as of January 2010) has identified 505 cases, with 500 males and 5 females. While some report that females may carry a milder form of the disorder, in our experience, both sexes generally follow a similar progressive clinical course.


Asunto(s)
Humanos , Masculino , Femenino , Anciano , Adulto , Distonía , Distonía Muscular Deformante , Trastornos Distónicos , Enfermedades Genéticas Ligadas al Cromosoma X , Islas , Trastornos Parkinsonianos , Penetrancia
18.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633175

RESUMEN

BACKGROUND: XDP is an X-linked recessive disorder characterized by parkinsonism and dystonia described among Filipinos. Oral medications are frequently ineffective. Lately, DBS have been promising. However these are not generally available or affordable for the vast majority of patients. We then decided to evaluate the effectiveness of levodopa-carbidopa for XDP. OBJECTIVE: To compare the efficacy, safety and tolerability of levodopa-carbidopa vs. placebo in XDP patients. METHODS: After informed consent and randomization, the BFM and the UPDRS parts III and IV were performed at baseline and monthly up to 6 months. Patients were randomized to receive either levodopa-carbidopa at a starting dose of 125 mg levodopa/ day in 2 divided doses or corresponding placebo. Gradual uptitration was done to a maximum of 1000 mg levodopa/ day or until side effects appeared. Homogeneity of the characteristics of patients in the 2 groups was determined using Independent t-test and Chi-square test. To determine the significance of changes in the efficacy parameters within each group, Wilcoxon Matched Pairs Signed Ranks Test was used. To compare the scores of the different efficacy parameters of the 2 groups, Mann Whitney U Test was applied to the data. A p?0.050 was considered significant.RESULTS: A total of 107 patients were recruited. There were 13 screen failures, and 94 were subsequently enrolled. The baseline characteristics (age, duration of illness, baseline BFM and UPDRS (motor) scores were not significant between levodopa and placebo (age in years: 47 + 9.35 vs. 50 + 9.51; duration of illness in years 6.3 + 7 vs. 6.2 + 5.2; BFM score: 32.8 + 24.5 vs. 28.4 + 26.5; UPDRS score 29.9 + 20.7 vs. 34.8 + 26.8). There was a decrease in BFM scores from baseline to all follow-up periods in patients given levodopa but were statistically significant only on visit 2 and visit 9. In the placebo group, decrease in scores was also observed in some observation periods but no statistical significance was shown. A comparison of the 2 groups showed that the magnitude of decrease in the levodopa group was statistically greater than the placebo group on the second visit. There were no significant differences observed in all other follow-up periods. Both groups showed a decrease in UPDRS scores but significant decrease was observed in visits 2, 5, 6, 7, 9 of the levodopa group. While in the placebo group, a significant decrease was observed only on visit 2. Comparison of the 2 groups did not show any significant differences. There were 17 patients from the levodopa group who reported adverse events (most common: increased involuntary movements, nausea/ vomiting/ dizziness, headache, and generalized weakness. In the placebo group, there were 11 patients (most common: increased involuntary movements, abdominal pain). There were 9 patients who dropped out (levodopa: 4, placebo: 5). CONCLUSION: There was a significant decrease in the BFM and UPDRS scores in XDP patients given levodopa compared to placebo. Levodopa is a safe and effective drug that may be considered in patients with XDP. NOTE: This study was supported by an unrestricted grant by Torrent Pharma Philippines, Inc.


Asunto(s)
Humanos , Dolor Abdominal , Carbidopa , Discinesias , Distonía , Trastornos Distónicos , Cefalea , Levodopa , Náusea , Trastornos Parkinsonianos , Estadísticas no Paramétricas , Vómitos
19.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633182

RESUMEN

The X-linked dystonia-parkinsonism (XDP) is a severe progressive, adult-onset X-linked endemic disorder in Filipinos, which is characterized by dystonic movements that start in the third of fourth decade, and replaced by parkinsonism beyond the 10th year of illness. Understanding the pathophysiology of XDP and development of rational therapies will depend on observations from imaging pathological and genetic studies. In this paper we summarize the results of these studies on patients with XDP. The cranial magnetic resonance imaging shows hy-perintense putaminal rim in both dystonic and parkinsonian stages, and atrophy of the caudate head or putamen in the parkinsonian stage. Neuropathological findings show atrophy of the caudate nucleus and putamen, with mild to severe neuronal loss and gliosis. In the neostriatum, the dystonic phase of XDP shows the involvement of striosomes and matrix sparing, while the later, i.e., p[arkinsonian phase, shows matrix involvement as well. In the dystonic phase, the loss of striosomal inhibitory projections lead to disinhibition of nigral dopaminergic neurons, perhaps resulting in a hyperkinetic state; while in the parkinsonian phase, severe and critical reduction of matrix-based projection may result in extranigral parkinsonism. Genetic sequencing of the XDP critical region in Xq13.1 has revealed an SVA retronsposon insertion in an intron of TAF1. This may reduce neuron-specific expression of the TAF1 isoform in the caudade nucleus, and subsequently interfere with the transcription of many neuronal genes, including DRD2. Findings from imaging, pahtology, and genetics studies are gradually shedding light on the pathophysiology of XDP, which hopefully will lead to mare rational and directed therapies.


Asunto(s)
Humanos , Adulto , Atrofia , Núcleo Caudado , Neuronas Dopaminérgicas , Trastornos Distónicos , Enfermedades Genéticas Ligadas al Cromosoma X , Gliosis , Intrones , Trastornos Parkinsonianos , Isoformas de Proteínas , Putamen
20.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-633183

RESUMEN

There is a paucity of published literature on the different oral medications tried for X-linked dystonia parkinsonism (XDP). In practice, most XDP patients are tired on medication typically used for patients with generalized dystonia. These drugs include anticholinergic agents, baclofen, clonazepam and other ben-zodiazepines, tetrabenazine, and clozapine. Although several articles have shown that these classess of drugs are beneficial for patients with generalized dystonia, none been systematically studied specifically for XDP patients. We are currently conducting the first randomized, placebo-controlled trial on the medications that have been used in XDP.


Asunto(s)
Humanos , Baclofeno , Antagonistas Colinérgicos , Clonazepam , Clozapina , Distonía , Trastornos Distónicos , Enfermedades Genéticas Ligadas al Cromosoma X , Trastornos Parkinsonianos , Tetrabenazina , Levodopa
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