Spinocerebellar ataxia (SCA) is a rare neurological illness inherited dominantly that causes severe impairment and premature mortality. While each rare disease may affect individuals infrequently, collectively they pose a significant healthcare challenge. It is mainly carried out due to the expansion of RNA triplet (CAG) repeats, although missense or point mutations can also be induced. Unfortunately, there is no cure; only symptomatic treatments are available. To date, SCA has about 48 subtypes, the most common of these being SCA 1, 2, 3, 6, 7, 12, and 17 having CAG repeats. Using molecular docking and molecular dynamics (MD) simulation, this study seeks to investigate effective natural herbal neuroprotective compounds against CAG repeats, which are therapeutically significant in treating SCA. Initially, virtual screening followed by molecular docking was used to estimate the binding affinity of neuroprotective natural compounds toward CAG repeats. The compound with the highest binding affinity, somniferine, was then chosen for MD simulation. The structural stability, interaction mechanism, and conformational dynamics of CAG repeats and somniferine were investigated via MD simulation. The MD study revealed that during the simulation period, the interaction between CAG repeats and somniferine stabilizes and results in fewer conformational variations. This in silico study suggests that Somniferine can be used as a therapeutic medication against RNA CAG repeats in SCA.

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The purposes of the current study are two-fold. Study 1 aimed to examine the psychometric properties of the Spence Children\'s Anxiety Scale (SCAS) in a Taiwanese sample. Study 2 aimed to explore the immediate and follow-up effects of Journey of the Brave Counseling Program (JBCP) on children\'s\' anxiety, well-being, and life adjustment. A review and suggestions were provided for future research and practitioners in educational and counseling fields as reference. In Study 1, the pilot study included 150 to 200 children between ages 11 and 12 in Taoyuan City. In Study 2, we conducted a pretest-posttest nonequivalent groups quasi-experimental design. The participants in this stage were 16 children in an elementary school in Taoyuan City, between ages 11 and 12. After obtaining consent forms from the participants\' guardians, we randomly assigned these participants to an experimental group (N = 8) and a control group (N = 8). The experimental group received a 40-minute JBCP session weekly for ten weeks. The control group received a 40-minute career exploration small group counseling weekly for ten weeks. We administered the SCAS, Psychological Well-Being Scale, and School Life Adjustment Scale in the pretest, posttest, and follow-up test to measure change of anxiety, well-being, and life adjustment of the participants. In addition, the current study implemented some qualitative data, such as group progress notes, group member feedback questionnaires, and semi-structured interviews with participants\' homeroom teachers as supplementary data to clarify the effects of the JBCP. In Study 1, we found that the SCAS had a good validity and reliability for Taiwanese children. The results of Study 2 indicated that the JBCP had immediate and follow-up effects on the separation anxiety in the experimental group. With the pretest impact eliminated, the immediate and follow-up effects on overall anxiety in the experimental group were better than those on the control group. However, even though the immediate and follow-up effects of the JBCP on the experimental group were better than the control group but were not significant. Besides, the group member feedback questionnaires and participants\' homeroom teachers all indicated that the experimental group participants had positive attitude toward the JBCP, and they also positively improved their emotions and interpersonal relationships with others.

With the development of the sequencing technique, more than 40 repeat expansion diseases (REDs) have been identified during the past two decades. Moreover, the clinical features of these diseases show some commonality, and the nervous system, especially the cognitive function was affected in part by these diseases. However, the specific cognitive domains impaired in different diseases were inconsistent. Here, we survey literature on the cognitive consequences of the following disorders presenting cognitive dysfunction and summarizing the pathogenic genes, epidemiology, and different domains affected by these diseases. We found that the cognitive domains affected in neuronal intranuclear inclusion disease (NIID) were widespread including the executive function, memory, information processing speed, attention, visuospatial function, and language. Patients with C9ORF72-frontotemporal dementia (FTD) showed impairment in executive function, memory, language, and visuospatial function. While in Huntington\'s disease (HD), the executive function, memory, and information processing speed were affected, in the fragile X-associated tremor/ataxia syndrome (FXTAS), executive function, memory, information processing speed, and attention were impaired. Moreover, the spinocerebellar ataxias showed broad damage in almost all the cognitive domains except for the relatively intact language ability. Some other diseases with relatively rare clinical data also indicated cognitive dysfunction, such as myotonic dystrophy type 1 (DM1), progressive myoclonus epilepsy (PME), Friedreich ataxia (FRDA), Huntington disease like-2 (HDL2), and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). We drew a cognitive function landscape of the related REDs that might provide an aspect for differential diagnosis through cognitive domains and effective non-specific interventions for these diseases.

This paper reviews and summarizes three main aspects of spinocerebellar ataxias (SCA) in the Asian population. First, epidemiological studies were comprehensively reviewed. Overall, the most common subtypes include SCA1, SCA2, SCA3, and SCA6, but there are large differences in the relative prevalence of these and other SCA subtypes between Asian countries. Some subtypes such as SCA12 and SCA31 are rather specific to certain Asian populations. Second, we summarized distinctive phenotypic manifestations of SCA patients of Asian origin, for example a frequent co-occurrence of parkinsonism in some SCA subtypes. Lastly, we have conducted an exploratory survey study to map SCA-specific expertise, resources, and management in various Asian countries. This showed large differences in accessibility, genetic testing facilities, and treatment options between lower and higher income Asian countries. Currently, many Asian SCA patients remain without a final genetic diagnosis. Lack of prevalence data on SCA, lack of patient registries, and insufficient access to genetic testing facilities hamper a wider understanding of these diseases in several (particularly lower income) Asian countries.

This study aimed to validate the self-reported brief version of the Spence Children\'s Anxiety Scale-Children (SCAS-C-8) in pre-adolescent Spanish children.
Participants were 824 children aged 8-12 from a community sample. The results revealed a good fit to the one-factor structure, adequate internal consistency (α = 0.75), and evidence of test-retest reliability (α = 0.77).
The strong relationship between the SCAS-C-8 and emotional problems provided evidence of convergent validity. Also, the results showed factorial gender invariance.
The SCAS-C-8 is a suitable instrument for pre-adolescent Spanish children. The brevity and simplicity of this scale may facilitate early detection and help to narrow the existent gap between the presence of anxiety problems and psychological assistance-seeking.

Silent corticotroph adenomas (SCAs) are a rare subtype of non-functional pituitary adenoma. While it has been suggested that they are more aggressive and recur more frequently following excision, there is limited literature on the optimum treatment strategy for these tumors, especially regarding the role of radiation therapy in incompletely resected tumors.
We assimilated data from 62 SCAs and 238 other non-functional adenomas (ONAs), defined according to the WHO 2017 criteria that incorporates transcription factor analysis. We compared their clinicoradiological characteristics, such as hormonal levels, tumor configuration, size, and invasiveness. For 52 SCAs and 205 ONAs with serial follow-up imaging, we studied outcomes for progression after subtotal resection with or without radiation therapy or recurrence after gross total resection. Kaplan Meier analysis for recurrence or progression was used to determine the need for a differential treatment strategy for SCAs compared with other non-functional adenomas specifically concerning the role of radiotherapy.
Patients with SCAs present at a younger age than ONAs (43.9 years vs. 48.2 years, p = 0.014), with larger (14.9 cc vs. 9.7 cc, p = 0.006) and more invasive adenomas (61.2% vs. 45.8%, p = 0.021). Overall, SCAs are more likely to recur or progress (48.7 vs. 15.7%, p < 0.001) following excision than ONAs, with significantly poorer event-free survival (Log rank test p < 0.001). Early adjuvant radiotherapy provides favorable outcomes among SCAs with postoperative residual tumor, on par with ONAs. Multivariate analysis identified male gender (HR: 2.217; p = 0.017), MIB index ≥ 3% (HR: 2.116; p = 0.012), and SCA tumor pathology (HR: 3.787; p < 0.001) as factors predicting recurrence.
Based on the results of this retrospective, single-center review of 300 non-functional adenomas, we conclude that silent corticotroph adenomas are an aggressive subtype of non-functional pituitary adenomas that are larger, more likely to be invasive, and tend to recur more frequently after a subtotal excision compared with other non-functional adenomas. A gross total resection must be attempted whenever possible and earlier adjuvant radiation is recommended when re-surgery for residual tumor is difficult.

OBJECTIVE: Clinically differentiating multiple system atrophy cerebellar type (MSA-C) and spinocerebellar ataxias (SCAs) is challenging, especially at early disease stages, because of their similarities in clinical manifestation and imaging results. The purpose of this study was to explore the value of external anal-sphincter electromyography (EAS-EMG) and urethral-sphincter electromyography (US-EMG) for distinguishing between MSA-C and SCAs.
METHODS: A total of 51 subjects, including 33 MSA-C and 18 SCAs, were recruited. Average duration and amplitude of motor unit potentials (MUPs), percentage of polyphasic MUPs, amplitude during strong contraction and recruitment pattern during maximal voluntary contraction were recorded and analyzed to identify differential diagnostic results of EAS-EMG and US-EMG for MSA-C and SCAs.
RESULTS: Significant differences in average MUP duration, percentage of polyphasic MUPs, and ratio of simple phase and simple-mix phase using EAS-EMG were noted between patients with MSA-C and SCAs. These same parameters also differed significantly between MSA-C and SCAs male patients using US-EMG.
CONCLUSIONS: EAS-EMG may serve as a potential method for early differential diagnosis between patients with MSA-C and SCAs. Furthermore, US-EMG could be a supplementary method for males when EAS-EMG is not available.

Objectives: The aim of this study was to evaluate the relationship between the risk factors of cerebral vascular diseases (CVD) and the characteristics of calcified plaques in patients with severe carotid arteriosclerosis stenosis (SCAS).Methods: A total of 402 patients with SCAS who were treated in our hospital between January to December 2016 were included in this study. The patients were divided into calcified plaque group and non-calcified plaque group according to the ultrasonography and computerized tomography angiography (CTA) or digital subtraction angiography (DSA) imaging of SCAS-responsible plaque and the characteristics of calcified plaques evaluated by high-frequency ultrasound.Results: The patients with long-term diabetes mellitus or higher levels of fasting blood glucose were more likely to develop calcified plaques (P = 0.00 and P = 0.021, respectively). In addition, the patients with calcified plaques were mostly smokers (P = 0.016). Their smoking duration and accumulative smoking exposure were higher than those without calcified plaque (P = 0.006 and P = 0.007, respectively). The basal location of calcification (P = 0.004) and the type of patchy calcification (P = 0.00) were both easier to appear in smokers, while non-smokers were more likely to have small granular calcification (P = 0.002). Furthermore, the carotid plaque calcification with mixed-location were more frequently seen in patients with hypertension (P = 0.016). The risk factors independently associated with plaque calcification were significantly associated with smoking status, smoking age, and accumulative smoking exposure, as well as age and diabetes mellitus (all P < 0.05).Conclusion: Smoking, diabetes mellitus and age were independent risk factors for carotid plaque calcification. Smoking and hypertension were associated with specific locations and types of plaque calcification.

UNASSIGNED: The frequency and presentation of each of the most common forms of spinocerebellar ataxias (SCAs) varies widely. In the case of the Americas, this diversity is particularly dynamic given additional social, demographic, and cultural characteristics.
UNASSIGNED: To describe the regional prevalence and clinical phenotypes of SCAs throughout the continent.
UNASSIGNED: A literature search was performed in both MEDLINE and LILACS databases. The research was broadened to include the screening of reference lists of systematic review articles for additional studies. Investigations dating from the earliest available through 2019. Only studies in English, Portuguese, and Spanish were included. We analyzed publications with genetically confirmed cases only, ranging from robust samples with epidemiological data to case reports and case series from each country or regions.
UNASSIGNED: Overall, SCA3 is the most common form in the continent. Region-specific prevalence and ranking of the common forms vary. On the other hand, region-specific phenotypic variations were not consistently found based on the available literature analyzed, with the exception of the absence of epilepsy in SCA10 consistently described in a particular cluster of cases in South Brazil.
UNASSIGNED: Systematic, multinational studies analyzing in detail the true frequencies of SCAs across the Americas as well as distinct clinical signs and clues of each form would be ideal to look for these potential variations.