OBJECTIVE: To assess knowledge and perceptions regarding PD in a large multiethnic urban Asian cohort of patients and caregivers.
METHODS: We conducted a survey at a university hospital neurology clinic, using a novel Knowledge and Perception of Parkinson's Disease Questionnaire (KPPDQ).
RESULTS: The KPPDQ had satisfactory psychometric properties among patients and caregivers. Five hundred subjects were recruited with a 97% response rate (211 patients, 273 caregivers). Non-motor symptoms such as urinary problems, visual hallucinations and pain were relatively poorly recognized. Many (≈ 50-80%) respondents incorrectly believed that all PD patients experience tremor, that PD is usually familial, and that there is a cure for PD. About one-half perceived PD to be caused by something the patient had done in the past, and that PD medications were likely to cause internal organ damage. Issues of stigma/shame were relevant to one-third of patients, and 70% of patients perceived themselves to be a burden to others. Two-thirds of participants felt that PD imposed a heavy financial toll. Participants were about equally divided as to whether they would consider treatment with deep brain stimulation, tube feeding or invasive ventilation. Over three-quarters of patients expressed a preference to die at home.
CONCLUSIONS: Important knowledge gaps, misperceptions and perspectives on PD were identified, highlighting the need for further efforts to raise awareness and provide accurate information regarding PD, and to address patient's and caregivers' needs and preferences.
METHODS: A systematic search was conducted until June 10, 2020 in Scopus, PubMed, Embase, Cochrane Central Register of Controlled Trials, and Index Medicus for South-East Asia Region to include all primary headache studies on migraine, tension-type headache, and trigeminal autonomic cephalalgia, with at least one author affiliated with a SEA country. Bibliometric indices, such as the number of publications and PlumX metrics, were obtained and correlated with the country-specific socioeconomic factors.
RESULTS: We identified 153 articles. Most of the publications (n = 43, 28.1%) were epidemiologic studies and case reports/series (n = 25, 16.3%). Migraine was the most studied primary headache subtype. Malaysia, Singapore, and Thailand were the major contributors to primary headache research in SEA. Only the percent gross domestic product for research and development correlated significantly with research productivity.
CONCLUSION: Despite the high global burden of disease, research productivity on primary headache was low in SEA. The move towards a knowledge-based economy may drive research productivity in SEA.
METHODS: A total of 1114 subjects comprising of 536 PD patients and 578 healthy controls of Malay ancestry were recruited and genotyped using Taqman® allelic discrimination assays.
RESULTS: The G allele of rs10513789 (OR = 0.83, p = 0.001) and A allele of rs12637471 (OR = 0.79, p = 0.007) in the MCCC1/LAMP3 locus were associated with a protective effect against developing PD in the Malay population. A recessive model of penetrance showed a protective effect of the GG genotype for rs10513789 and the AA genotype for rs12637471. No association with PD was found with the other MCCC1/LAMP3 rs12493050 variant or with the DGKQ (rs11248060) variant. No significant associations were found between the four variants with the age at PD diagnosis.
CONCLUSION: MCCC1/LAMP3 variants rs10513789 and rs12637471 protect against PD in the Malay population.
METHODS: Articles detailing potential applications of CRISPR/Cas9 in neurodegenerative settings were retrieved from PubMed and Google Scholar with the keywords "CRISPR," "gene editing," and "neurodegenerative diseases." Relevant information was collected and critically reviewed.
RESULTS: The utility of CRISPR/Cas9 coupled with viral transduction ranges from the disruption of amyloid precursor protein (APP) production at a genomic level in Alzheimer's disease (AD) to the deletion of varying exon portions of the Dmd gene in Duchenne muscular dystrophy (DMD) which would increase dystrophin expression. This usage of CRISPR/Cas9 also extends to experimentally ameliorate the neurodegenerative effects caused by viral infections.
CONCLUSION: The CRISPR/Cas9 gene editing tool is a powerful arsenal in the field of gene therapy and molecular medicine; hence, more research should be called to focus on the ample potential this tool has to offer in the field of neurodegenerative diseases.
METHODS: To understand the genetic factor in a family with GGE, we performed whole exome sequencing (WES) on a trio of a juvenile myoclonic epilepsy/febrile seizure (JME/FS) proband with JME/FS mother and healthy father. Sanger sequencing was carried out for validation of WES results and variant detection in other family members.
RESULTS: Predictably damaging variant found in affected proband and mother but absent in healthy father in SCN1A gene was found to be associated with generalized epilepsy and febrile seizure. The novel non-synonymous substitution (c.5753C>T, p.S1918F) in SCN1A was found in all family members with GGE, of which 4/8 were JME subtypes, and/or febrile seizure, while 3 healthy family member controls did not have the mutation. This mutation was also absent in 41 GGE patients and 414 healthy Malaysian Chinese controls.
CONCLUSION: The mutation is likely to affect interaction between the sodium channel and calmodulin and subsequently interrupt calmodulin-dependent modulation of the channel.
OBJECTIVE: Here, we systematically review the literature on autoimmune encephalitis that developed in the background of SARS-CoV-2 infections and also the possible pathophysiological mechanisms of auto-immune mediated damage to the nervous system.
METHODOLOGY: An exhaustive search was made in Medline/PubMed, Embase, Scopus and other medical databases, and 28 relevant published articles were selected according to the strict inclusion criteria.
RESULTS: Autoimmune encephalitis can occur via three possible proposed pathophysiological mechanism and can manifest during or after the acute infection period. It is more common in adult but can also occur in the paediatric patients. There were various spectra of autoantibody panels reported including antineuronal antibody, anti-gangliosides antibody and onconeural antibody. Majority of the patients responded well to the immunomodulating therapy and achieved good recovery.
CONCLUSION: In conclusion, SARSCoV-2 infection can induce various spectrum of autoimmune encephalitis. It is a major concern since there is very limited long-term study on the topic. Hence, this review aims to elucidate on the potential long-term complication of SARS-CoV-2 infection and hopefully to improve the management and prognosis of COVID-19.
METHODS: While their pupil diameter was measured with an eye-tracker, forty-five participants retrieved one memory from a field perspective (i.e., as viewed through our own eyes) and one memory from an observer perspective (i.e., as viewed from a spectator's standpoint). After retrieval, participants rated the emotional intensity of the memories.
RESULTS: Analysis demonstrated larger pupils during the retrieval of memories from a field perspective and higher emotional intensity for memories retrieved from a field perspective.
DISCUSSION: The larger pupils for memories recalled from a field perspective could, however, not be attributed to their higher emotional intensity. These findings suggest that pupil dilation could be used as a physiological assessment of visual perspective during memory retrieval.
METHODS: According to the PRISMA 2009 multi-step instructions, keywords related to the purpose of the research were browsed in the MeSH browser databases; IranDoc, MagIran, IranMedex, SID, ScienceDirect, Web of Science (WoS), ProQuest, Medline (PubMed), Scopus, and Google Scholar were searched to extract articles published in Persian and English language. The search process for retrieving the articles in the sources mentioned from January 01, 2000, to December 30, 2020, was done. The heterogeneity index of the studies was determined using the I2 test. Given the heterogeneity, the random-effects model was used to combine the articles and the results.
RESULTS: Initially, 7067 articles were found, but after removing duplicate and irrelevant articles, 96 clinical trials with a sample size of the intervention group of 1760 people were included in the study. As a result of the articles' composition, the mean balance score index after exercise in the intervention group showed a significant increase of 0.67 ± 0.12 of the unit (P˂0.01). The highest rate of increase in the balance score after the intervention was reported in patients with myelomeningocele with 1.66 ± 0.3 unit (P˂0.01).
CONCLUSION: Considering the positive effect of using exercise on increasing the balance in patients with stroke, Parkinson, and multiple sclerosis, it is recommended that health care providers implement a regular exercise program to improve the condition of these patients.
METHODS: Various databases (PubMed, Scopus, Web of Science, Embase, and ScienceDirect) along with Google Scholar search engine were hired for systematic searching in the field of the prevalence of FSD (by July 2022). The heterogeneity of the studies was assessed using I2 index, and random effects model was used to perform the analysis (CMA software, v.2).
RESULTS: Following assessment of 14 included studies with the sample size of 2115 women, a total prevalence of sexual dysfunction (SD) in women with MS was reported 62.5% (95% CI 53.9-70.5). Meta-regression assessment also showed that FSD accelerates following increasing the sample size and the year of the studies.
CONCLUSION: The total prevalence of SD in women with MS was found considerably high (62.5%) in the world, which needs more serious attention by health policymakers. Correct implementation of health policies can potentially increase the society's awareness and successful treatment of SD in MS patients.
METHODS: Twenty genetically confirmed ATTRv amyloidosis patients (nine symptomatic, 11 pre-symptomatic) were enrolled prospectively between January to March 2023. Muscle ultrasound was performed on six muscles at standardized locations. QMUS parameters included muscle thickness (MT) and muscle echo intensity (EI). Twenty-five age- and sex-matched healthy controls were recruited for comparison. Significant QMUS parameters were correlated with clinical outcome measures.
RESULTS: Muscle volume of first dorsal interosseus (FDI) muscle [measured as cross-sectional area (CSA)] was significantly lower in symptomatic patients compared to healthy controls and pre-symptomatic carriers (98.3 ± 58.0 vs. 184.4 ± 42.5 vs. 198.3 ± 56.8, p