INTRODUCTION: One of the most debilitating problems encountered by people with multiple sclerosis (MS) is the loss of balance and coordination. Our study aimed to comprehensively evaluate the effectiveness of one year of Tai-chi exercise in patients with MS using both subjective and objective methods, including posturography. METHODS: This was a single-group longitudinal one-year study performed from the 1st of January 2019 to the 1st of January 2020. The primary outcomes of interest were the Mini-Balance Evaluation Systems Test (Mini-BESTest) and static posturography measures as objective methods to detect subtle changes associated with postural control/balance impairment. Secondary outcomes were measures of depression, anxiety, cognitive performance, and quality of life. All objective and subjective parameters were assessed four times: at baseline, and after three, six and 12 months of regular Tai-chi training. The difference was calculated as a subtraction of baseline values from every timepoint value for each measurement. If the normality test was passed, parametric one-sample t-test was used, if failed, Wilcoxon signed ranks test was used to test the difference between the baseline and each timepoint. Alpha was set to 0.017 using Bonferroni correction for multiple comparisons. RESULTS: Out of 25 patients with MS enrolled, 15 women with MS (mean age 44.27 years) were included for statistical analyses after completing the 12-month program. After 12 months, significant improvements were found in all objective balance and gait tests: Mini-BESTest (p<0.001), static posturography measures (total area of the centre of foot pressure - TA; p = 0.015), 25 Feet Walk Test (25FWT; p = 0.001), anxiety (Beck Anxiety Inventory - BAI; p = 0.005) and cognition tests (Paced Auditory Serial Addition Test - PASAT; p = 0.003). Measures of depression (Beck Depression Inventory - BDI; p = 0.071), cognition (Symbol Digit Modalities Test - SDMT; p = 0.079), and health-related quality of life (European Quality of Life 5-Dimensions Questionnaire - EQ-5D-5L; p = 0.095) showed a trend of improvement but were not significant, which could be the result of a small sample and increased bias due the type II error. CONCLUSION: According to these preliminary results, this study indicates the possible beneficial effects of long-term Tai-chi training on patients with MS. Although these findings need to be confirmed by further studies with a larger sample of participants of both genders and require more rigorous randomized controlled trials (RCT) design, our findings support the recommendation of regular and long-term Tai-chi exercise in patients with MS. GOV IDENTIFIER (RETROSPECTIVELY REGISTERED): NCT05474209.
- MeSH
- dospělí MeSH
- kognice MeSH
- kvalita života MeSH
- lidé MeSH
- posturální rovnováha MeSH
- prospektivní studie MeSH
- roztroušená skleróza * komplikace terapie MeSH
- taiči * MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Tayova-Sachsova choroba je raritné autozomálne recesívne podmienené ochorenie zapríčinené deficitom enzýmu β-hexozaminidázy A (HexA). Dochádza k akumulácii GM2 gangliozidov v lyzozómoch neurónov, čo potenciuje ich toxický účinok a navodzuje tak postupnú neurodegeneráciu. Presný mechanizmus spustenia zániku neurónov je stále neznámy. Pre zachovanú reziduálnu aktivitu enzýmu HexA má adultná forma ochorenia zvyčajne miernejší priebeh ako infantilná forma. Klinický obraz je nešpecifický, preto je ochorenie výrazne poddiagnostikované. V našej videokazuistike prezentujeme prípad 49-ročného pacienta s geneticky potvrdenou adultnou formou Tayovej-Sachsovej choroby.
Tay-Sachs disease is a rare autosomal recessive disorder caused by β-hexosaminidase A (HexA) enzyme deficiency. There is accumulation of GM2 gangliosides in neuronal lysosomes, which potentiates their toxic effect, thus inducing gradual neurodegeneration. The exact mechanism triggering neuronal death is still unknown. Due to the preserved residual HexA enzyme activity, the adult form of the disease tends to have a milder course than the infantile form. The clinical presentation is non-specific; hence, the disease is significantly underdiagnosed. Our video case report presents a 49-year-old patient with a genetically confirmed diagnosis of adult Tay-Sachs disease.
- MeSH
- cerebelární ataxie MeSH
- lidé středního věku MeSH
- lidé MeSH
- Tay-Sachsova nemoc * diagnóza terapie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Cieľ: Cieľom tejto práce bolo overenie psychometrických charakteristík slovenskej verzie Mattisovej škály demencie (Dementia Rating Scale-2; DRS-2), preskúmanie jej diagnostickej presnosti v populácii pacientov s Parkinsonovou chorobou (PCh) a stanovenie predbežného hraničného skóre pre diagnostiku miernej kognitívnej poruchy (mild cognitive impairment; MCI). Súbor a metodika: Klinická populácia bola zložená z 30 pacientov s PCh, s priemernou dĺžkou trvania ochorenia 5,53 ± 3,92 rokov. U 11 pacientov bola diagnostikovaná MCI. Kontrolnú skupinu zdravých ľudí bez neurologického ochorenia tvorilo 43 vekovo a vzdelanostne príbuzných participantov. Všetkým participantom bola administrovaná slovenská verzia DRS-2 merajúca pozornosť, pamäť, iniciáciu/perseveráciu, konštrukčné schopnosti a konceptualizáciu. Na posúdenie konvergentnej validity bola využitá komplexná neuropsychologická batéria. Výsledky: Korelácie skóre DRS-2 so skríningovými nástrojmi a analogickými testami neuropsychologickej batérie poukazujú na dobrú konvergentnú validitu nástroja (s výnimkou subtestu konštrukcia). Najsilnejšie vzťahy sme zistili pre subtesty iniciácia/perseverácia a pamäť. Objektivizovali sme dobrú diskriminačnú silu pri pacientoch s PCh bez kognitívneho deficitu a pacientoch s MCI so stanovením optimálneho cut-off skóre 134 bodov (senzitivita 81,80 % a špecificita 89,50 %). Záver: Slovenská verzia Mattisovej škály demencie je nástrojom s vyhovujúcimi psychometrickými vlastnosťami a možno ju potenciálne použiť na testovanie kognície u zdravej populácie a pacientov s Parkinsonovou chorobou.
Aim: Aims of this study were to verify the psychometric characteristics of the Slovak version of the Mattis Dementia Rating Scale-2 (DRS-2), examine its diagnostic accuracy in the population of patients with Parkinson‘s disease (PD), and establish a preliminary cut-off score for the diagnosis of mild cognitive impairment (MCI). Sample and methods: The clinical population consisted of 30 patients with PD with an average duration of the disease of 5.53 ± 3.92 years. Eleven patients were diagnosed with MCI. The control group of healthy people without neurological disease consisted of 43 participants who were age and education matched. All participants were administered the Slovak version of the DRS-2 measuring attention, memory, initiation/perseveration, construction skills and conceptualization. A comprehensive neuropsychological battery was used to assess convergent validity. Results: Correlations of DRS-2 scores with a screening tools and analogous tests of the neuropsychological battery indicate good convergent validity of the tool (with the exception of the construction subtest). We found the strongest relationships for the initiation/perseveration and memory subtests. Furthermore, we objectified a good discriminative power in patients with PD without cognitive deficits and patients with MCI with the determination of an optimal cut-off score of 134 points (sensitivity 81.80% and specificity 89.50%). Conclusion: The Slovak version of the DRS-2 is an instrument with satisfactory psychometric properties and can potentially be used to test cognition in the healthy population and patients with Parkinson‘s disease.
- Publikační typ
- abstrakt z konference MeSH
Parkinson's disease (PD) affects the language processes, with a significant impact on the patients' daily communication. We aimed to describe specific alterations in the comprehension of syntactically complex sentences in patients with PD (PwPD) as compared to healthy controls (HC) and to identify the neural underpinnings of these deficits using a functional connectivity analysis of the striatum. A total of 20 patients PwPD and 15 HC participated in the fMRI study. We analyzed their performance of a Test of sentence comprehension (ToSC) adjusted for fMRI. A task-dependent functional connectivity analysis of the striatum was conducted using the psychophysiological interaction method (PPI). On the behavioral level, the PwPD scored significantly lower (mean ± sd: 77.3 ± 12.6) in the total ToSC score than the HC did (mean ± sd: 86.6 ± 8.0), p = 0.02, and the difference was also significant specifically for sentences with a non-canonical word order (PD-mean ± sd: 69.9 ± 14.1, HC-mean ± sd: 80.2 ± 11.5, p = 0.04). Using PPI, we found a statistically significant difference between the PwPD and the HC in connectivity from the right striatum to the supplementary motor area [SMA, (4 8 53)] for non-canonical sentences. This PPI connectivity was negatively correlated with the ToSC accuracy of non-canonical sentences in the PwPD. Our results showed disturbed sentence reading comprehension in the PwPD with altered task-dependent functional connectivity from the right striatum to the SMA, which supports the synchronization of the temporal and sequential aspects of language processing. The study revealed that subcortical-cortical networks (striatal-frontal loop) in PwPD are compromised, leading to impaired comprehension of syntactically complex sentences.
- Publikační typ
- časopisecké články MeSH
- Publikační typ
- abstrakt z konference MeSH
Hlboká mozgová stimulácia (deep brain stimulation; DBS) je súčasťou pokročilej liečby vybraných neurologických ochorení, pri ktorých nie je dostatočne efektívna konzervatívna terapia. Etablovanými indikáciami sú Parkinsonova choroba, rôzne formy dystónie a esenciálny tras. V posledných rokoch sa rozšírilo indikačné spektrum DBS v rámci neurológie o vybrané formy epilepsie a v experimentálnej rovine prebiehajú klinické štúdie s využitím DBS pri chronickej klastrovej bolesti hlavy a ďalších extrapyramídových ochoreniach (Tourettov syndróm, Huntingtonova choroba). Ďalším posunom sú technologické inovácie v oblasti hardvéru. Prakticky všetky neurostimulátory sú kompatibilné s MR a životnosť batérie sa výrazne predĺžila (výrobca garantuje 13 rokov, ale experimentálne dáta predikujú životnosť pri nabíjateľných neurostimulátoroch až do 25 rokov). V rutinnej praxi sa začali používať tzv. smerovateľné elektródy, ktoré umožňujú presnejšie zacielenie elektrického poľa a minimalizáciu stimuláciou indukovaných nežiaducich účinkov. DBS je teda bezpečnou a efektívnou liečbou medicínsky refraktérnych neurologických ochorení a rýchlosť pokroku na tomto poli predpokladá ešte ďalšie zdokonalenie (automatizácia programovania, zmenšovanie a ďalšie predlžovanie životnosti batérie, jednoduchšia obslužnosť).
Deep brain stimulation (DBS) is an established advanced treatment option for selected neurological disorders with failed conservative therapy. Present indications of DBS are Parkinson‘s disease, various types of dystonia and essential tremor. In recent years, the DBS indication spectrum of neurological disorders has broadened with epilepsy and other more experimental indications such as chronic cluster headache and other movement disorders (Tourette’s syndrome, Huntington’s disease). Technological hardware innovations are another important step. Almost all currently manufactured neurostimulators are MRI compatible and the longevity of batteries has significantly improved (manufacturer guarantees a longevity of 13 years and the experimental data predict up to 25 years). Directional leads became a standard practice enabling the shaping of the electrical fields and minimalization of stimulation-induced side effects. Deep brain stimulation is a safe and effective therapy option for medically refractory neurological disorders and we may predict further substantial advances in this field (time-saving automatic programming, minimalization and longevity of batteries, user-friendly patient programmers).
- MeSH
- hluboká mozková stimulace * metody přístrojové vybavení trendy MeSH
- lidé MeSH
- nemoci nervového systému terapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- přehledy MeSH
Repeated injection cycles with abobotulinumtoxinA, a botulinum toxin type A, are recommended in current clinical guidelines as a treatment option for adults with upper limb spastic paresis. However, the magnitude of the maximal therapeutic effect of repeated abobotulinumtoxinA treatment across different efficacy parameters and the number of injection cycles required to reach maximal effect remain to be elucidated. Here, we present a post hoc exploratory analysis of a randomized, double-blind, placebo-controlled trial (12-24 weeks; NCT01313299) and open-label extension study (up to 12 months; NCT0131331), in patients aged 18-80 years with hemiparesis for ≥6 months after stroke/traumatic brain injury. Two inferential methods were used to assess the changes in efficacy parameters after repeat abobotulinumtoxinA treatment cycles: Mixed Model Repeated Measures analysis and Non-Linear Random Coefficients analysis. Using the latter model, the expected maximal effect size (not placebo-controlled) and the number of treatment cycles to reach 90% of this maximal effect were estimated. Treatment responses in terms of passive and perceived parameters (i.e. modified Ashworth scale in primary target muscle group, disability assessment scale for principal target for treatment or limb position, and angle of catch at fast speed) were estimated to reach near-maximal effect in two to three cycles. Near-maximal treatment effect for active parameters (i.e. active range of motion against the resistance of extrinsic finger flexors and active function, assessed by the Modified Frenchay Scale) was estimated to be reached one to two cycles later. In contrast to most parameters, active function showed greater improvements at Week 12 (estimated maximal change from baseline-modified Frenchay Scale overall score: +0.8 (95% confidence interval, 0.6; 1.0) than at Week 4 (+0.6 [95% confidence interval, 0.4; 0.8]). Overall, the analyses suggest that repeated treatment cycles with abobotulinumtoxinA in patients chronically affected with upper limb spastic paresis allow them to relearn how to use the affected arm with now looser antagonists. Future studies should assess active parameters as primary outcome measures over repeated treatment cycles, and assess efficacy at the 12-week time-point of each cycle, as the benefits of abobotulinumtoxinA may be underestimated in the studies of insufficient duration. Abbreviated summary In this post hoc analysis of repeated abobotulinumtoxinA injection cycles in upper limb spastic paresis, Gracies et al. used statistical modelling to elucidate the maximal therapeutic effect of abobotulinumtoxinA. Notably, the number of injections required to reach this maximal effect was higher for active (e.g. active function) compared with passive (e.g. tone) parameters.
- Publikační typ
- časopisecké články MeSH
- MeSH
- lidé MeSH
- LRRK2 genetika MeSH
- mutace MeSH
- Parkinsonova nemoc genetika MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- dopisy MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Maďarsko MeSH
- Polsko MeSH
- Rumunsko MeSH
- Slovenská republika MeSH
