INTRODUCTION: Recurrent isolated sleep paralysis (RISP) is a rapid eye movement sleep (REM) parasomnia, characterized by the loss of voluntary movements upon sleep onset and/or awakening with preserved consciousness. Evidence suggests microstructural changes of sleep in RISP, although the mechanism of this difference has not been clarified yet. Our research aims to identify potential morphological changes in the brain that can reflect these regulations. MATERIALS AND METHODS: We recruited 10 participants with RISP (8 women; mean age 24.7 years; SD 2.4) and 10 healthy control subjects (w/o RISP; 3 women; mean age 26.3 years; SD 3.7). They underwent video-polysomnography (vPSG) and sleep macrostructure was analyzed. After that participants underwent magnetic resonance imaging (MRI) of the brain. We focused on 2-dimensional measurements of cerebellum, pons and thalamus. Statistical analysis was done in SPSS program. After analysis for normality we performed Mann-Whitney U test to compare our data. RESULTS: We did not find any statistically significant difference in sleep macrostructure between patients with and w/o RISP. No evidence of other sleep disturbances was found. 2-dimensional MRI measurements revealed statistically significant increase in cerebellar vermis height (p = 0.044) and antero-posterior diameter of midbrain-pons junction (p = 0.018) in RISP compared to w/o RISP. DISCUSSION: Our results suggest increase in size of cerebellum and midbrain-pons junction in RISP. This enlargement could be a sign of an over-compensatory mechanism to otherwise dysfunctional regulatory pathways. Further research should be done to measure these differences in time and with closer respect to the frequency of RISP episodes.

• Publication type
• Journal Article MeSH

OBJECTIVES: Many studies draw attention to the negative consequences of the pandemic or lockdown on the well-being and lifestyle of different sections of the population. This study considers whether changes occurred in dietary regime and level of physical activity during three periods - before the pandemic, during the lockdown, and during the present in older Slovak adults. We also investigate whether individual weights changed during the pandemic. METHODS: The study has a cross-sectional design. We collected 436 questionnaires from older adults (60+) living in Slovakia; 277 come from the first phase of online data collection (04/2022-06/2022) in university students of the third age, and 159 from the second phase of offline collection (07/2022-11/2022) in social service facilities. We monitored if there were any changes within the observed periods in the variables of diet regime, physical activity, and BMI. The database has been processed in IBM SPSS Statistics. RESULTS: During the lockdown, the frequency of physical activity decreased (p < 0.001), the quality of movement worsened (p < 0.001), and the time respondents devoted to physical activity during the week decreased (p < 0.001). At present, the variables have increased. Within the dietary regimen, statistically significant changes occurred in appetite and non-alcoholic beverage intake (p = 0.002). However, there were no significant changes in the number of daily meals (p = 0.190), or the amount of alcohol consumed (p = 0.066). The BMI of older men and women did not change after the pandemic (p = 0.519), and it did not differ between men and women either before the pandemic (p = 0.281) or after it (p = 0.449). Also there is no difference between UTA students and social facility living seniors before the pandemic (0.933) and now (0.317). The results showed that even though physical activity significantly decreased during the lockdown, the older adults in our study did not eat more during the lockdown, nor did they gain weight. However, this probably had negative consequences for the quality of their movement. CONCLUSION: It is essential to simultaneously create compensatory measures while implementing future anti-epidemic (or other) measures. They would help maintain the desired amount of physical activity or other healthy habits on an optimal level.

• MeSH
• COVID-19 * epidemiology   prevention & control   MeSH
• Exercise * MeSH
• Diet * statistics & numerical data   MeSH
• Body Mass Index MeSH
• Quarantine MeSH
• Middle Aged MeSH
• Humans MeSH
• Pandemics MeSH
• Cross-Sectional Studies MeSH
• Surveys and Questionnaires MeSH
• SARS-CoV-2 MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Body Weight MeSH
• Check Tag
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Slovakia MeSH

In functional magnetic imaging (fMRI) in Parkinson's disease (PD), a paradigm consisting of blocks of finger tapping and rest along with a corresponding general linear model (GLM) is often used to assess motor activity. However, this method has three limitations: (i) Due to the strong magnetic field and the confined environment of the cylindrical bore, it is troublesome to accurately monitor motor output and, therefore, variability in the performed movement is typically ignored. (ii) Given the loss of dopaminergic neurons and ongoing compensatory brain mechanisms, motor control is abnormal in PD. Therefore, modeling of patients' tapping with a constant amplitude (using a boxcar function) and the expected Parkinsonian motor output are prone to mismatch. (iii) The motor loop involves structures with distinct hemodynamic responses, for which only one type of modeling (e.g., modeling the whole block of finger tapping) may not suffice to capture these structure's temporal activation. The first two limitations call for considering results from online recordings of the real motor output that may lead to significant sensitivity improvements. This was shown in previous work using a non-magnetic glove to capture details of the patients' finger movements in a so-called kinematic approach. For the third limitation, modeling motion initiation instead of the whole tapping block has been suggested to account for different temporal activation signatures of the motor loop's structures. In the present study we propose improvements to the GLM as a tool to study motor disorders. For this, we test the robustness of the kinematic approach in an expanded cohort (n = 31), apply more conservative statistics than in previous work, and evaluate the benefits of an event-related model function. Our findings suggest that the integration of the kinematic approach offers a general improvement in detecting activations in subcortical structures, such as the basal ganglia. Additionally, modeling motion initiation using an event-related design yielded superior performance in capturing medication-related effects in the putamen. Our results may guide adaptations in analysis strategies for functional motor studies related to PD and also in more general applications.

• MeSH
• Basal Ganglia MeSH
• Humans MeSH
• Magnetic Resonance Imaging methods   MeSH
• Brain diagnostic imaging   MeSH
• Parkinson Disease * diagnostic imaging   MeSH
• Movement physiology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH

Recirculation of chronic lymphocytic leukemia (CLL) cells between the peripheral blood and lymphoid niches plays a critical role in disease pathophysiology, and inhibiting this process is one of the major mechanisms of action for B-cell receptor (BCR) inhibitors such as ibrutinib and idelalisib. Migration is a complex process guided by chemokine receptors and integrins. However, it remains largely unknown how CLL cells integrate multiple migratory signals while balancing survival in the peripheral blood and the decision to return to immune niches. Our study provided evidence that CXCR4/CD5 intraclonal subpopulations can be used to study the regulation of migration of CLL cells. We performed RNA profiling of CXCR4dimCD5bright vs CXCR4brightCD5dim CLL cells and identified differential expression of dozens of molecules with a putative function in cell migration. GRB2-associated binding protein 1 (GAB1) positively regulated CLL cell homing capacity of CXCR4brightCD5dim cells. Gradual GAB1 accumulation in CLL cells outside immune niches was mediated by FoxO1-induced transcriptional GAB1 activation. Upregulation of GAB1 also played an important role in maintaining basal phosphatidylinositol 3-kinase (PI3K) activity and the "tonic" AKT phosphorylation required to sustain the survival of resting CLL B cells. This finding is important during ibrutinib therapy, because CLL cells induce the FoxO1-GAB1-pAKT axis, which represents an adaptation mechanism to the inability to home to immune niches. We have demonstrated that GAB1 can be targeted therapeutically by novel GAB1 inhibitors, alone or in combination with BTK inhibition. GAB1 inhibitors induce CLL cell apoptosis, impair cell migration, inhibit tonic or BCR-induced AKT phosphorylation, and block compensatory AKT activity during ibrutinib therapy.

• MeSH
• Adaptor Proteins, Signal Transducing biosynthesis   MeSH
• Adenine analogs & derivatives   pharmacology   MeSH
• Leukemia, Lymphocytic, Chronic, B-Cell drug therapy   metabolism   pathology   MeSH
• Forkhead Box Protein O1 metabolism   MeSH
• Humans MeSH
• Cell Line, Tumor MeSH
• Piperidines pharmacology   MeSH
• Cell Movement * MeSH
• Proto-Oncogene Proteins c-akt metabolism   MeSH
• Gene Expression Regulation, Leukemic * MeSH
• Signal Transduction * MeSH
• Up-Regulation * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Oční navigace Tobii PCEye je asistivní technologie, která snímá, vyhodnocuje a zaznamenává pohled uživatele na monitor. Klientům slouží především jako kompenzační pomůcka při narušené komunikační schopnosti. Plnohodnotně nahrazuje klávesnici i myš, protože snímá rychle a s velkou přesností oční pohyb. Zlepšuje sociální interakci s okolím, neboť její pomocí lze jednoduše ovládat všechny funkce počítače a domácí spotřebiče. Tímto zvyšuje maximální soběstačnost jedince. Pro zařízení Tobii jsou navrženy speciální programy. U klientů s pervazivní vývojovou poruchou se nejčastěji využívá program Look to learn, který umožňuje snadný nácvik používání pomůcky. Možnosti technologie Tobii významně rozšiřuje nástavba DiagView, která mimo jiné, po provedené aktivitě vygeneruje grafické znázornění analýzy pohybu očí klienta. Barevně zaznamenává intenzitu bodů a mapuje, kde směřoval klientův zrak při dané činnosti. Díky tomu lze pomůcku využít k diagnostice i intervenci. Intervence se u klientů s pervazivní vývojovou poruchou zaměřuje na zlepšení komunikace, sociální interakce a hry. Ve Švédsku, odkud zařízení pochází, jej při terapeutické intervenci nejvíce využívají ergoterapeuti, speciální pedagogové a logopedi. Cílem tohoto článku je seznámit čtenáře s možnostmi ergoterapeutické intervence s oční navigací Tobii PCEye Plus. Výsledky byly zpracovány na základě šesti kazuistických studií u klientů s pervazivní vývojovou poruchou.

Eye tracking navigation Tobii PCEye Plus is an assistive technology which scans, evaluates and records user ́s sight focused on a monitor. It is primarily used as a compensatory device by clients with communication disabilities. It fully replaces a keyboard and a mouse because it captures eye movements fast and very accurately. It helps to improve social interactions and it can control all pc functions and home appliances, and so it increases maximum self-sufficiency. There are special programs designed for the Tobii. The most used program for clients with pervasive developmental disorder is called Look to learn thanks to which clients can easily train how to use the device. Capabilities of the Tobii technology are significantly enhanced by DiagView extension, which generates a graphical representation of a client’s eye movement analysis after a proven activity. It records in colors the intensity of points and maps where were directed the client’s eyes during the activity. This allows the device to be used for diagnosis and intervention. The intervention in these cases focuses on improvement of communication, social interactions and games. This device comes from Sweden, where it is used by occupational therapists, special teachers and speech therapists. The article aims to acquaint the reader with the possibilities of occupational intervention with Tobii PCEye Plus eye navigation. Six case studies were conducted with clients with pervasive developmental disorder.

• Keywords
• oční navigace, Tobii PCEye Plus,
• MeSH
• Child MeSH
• Occupational Therapy MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Eye MeSH
• Child Development Disorders, Pervasive * MeSH
• Computers MeSH
• Signal Processing, Computer-Assisted instrumentation   MeSH
• Communication Devices for People with Disabilities * MeSH
• Attention MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH

Despite signs of facial nerve recovery within a few months following face transplantation, speech deficits persist for years. Behavioral speech modifications (e.g., slower-than-normal speaking rate and increased loudness) have shown promising potential to enhance speech intelligibility in populations with dysarthric speech. However, such evidence-based practice approach is lacking in clinical management of speech in individuals with facial transplantation. Because facial transplantation involves complex craniofacial reconstruction and facial nerve coaptation, it is unknown to what extent individuals with face transplant are capable of adapting their motor system to task-specific articulatory demands. The purpose of this study was to identify the underlying articulatory mechanisms employed by individuals with face transplantation in response to speech modification cues at early and late stages of neuromotor recovery. In addition, we aimed to identify speech modifications that conferred improved speech clarity. Participants were seven individuals who underwent full or partial facial vascularized composite allografts that included lips and muscles of facial animation and were in early (~2 months) or late (~42 months) stages of recovery. Participants produced repetitions of the sentence "Buy Bobby a puppy" in normal, fast, loud, and slow speech modifications. Articulatory movement traces were recorded using a 3D optical motion capture system. Kinematic measures of average speed (mm/s) and range of movement (mm3) were extracted from the lower lip (± jaw) marker. Two speech language pathologists rated speech clarity for each speaker using a visual analog scale (VAS) approach. Results demonstrated that facial motor capacity increased from early to late stages of recovery. While individuals in the early group exhibited restricted capabilities to adjust their motor system based on the articulatory demands of each speech modification, individuals in the late group demonstrated faster speed and larger-than-normal range of movement for loud speech, and slower speed and larger-than-normal range of movement for slow speech. In addition, subjects in both groups showed overreliance on jaw rather than lip articulatory function across all speech modifications, perhaps as a compensatory strategy to optimize articulatory stability and maximize speech function. Finally, improved speech clarity was associated with loud speech in both stages of recovery.

• Publication type
• Journal Article MeSH

• MeSH
• Upper Extremity physiology   MeSH
• Joints physiology   MeSH
• Elbow physiology   MeSH
• Musculoskeletal Physiological Phenomena MeSH
• Pronation physiology   MeSH
• Shoulder physiology   MeSH
• Hand physiology   MeSH
• Supination physiology   MeSH
• Wrist physiology   MeSH
• Publication type
• Atlas MeSH
• Textbook MeSH

• Conspectus
• Fyziologie člověka a srovnávací fyziologie
• Učební osnovy. Vyučovací předměty. Učebnice
• NML Fields
• fyziologie

Cíl: Kongenitální fibróza zevních okohybných svalů (congenital fibrosis of the extraocular muscles; CFEOM) je vzácné autozomálně dominantní onemocnění charakterizované oboustrannou neprogresivní oftalmoplegií a ptózou. Cílem práce bylo popsat klinické projevy a určit molekulárně genetickou příčinu u čtyř postižených a jednoho nepostiženého člena čtyřgenerační rodiny s CFEOM. Soubor a metodika: Všichni jedinci podstoupili oční vyšetření. U probandky jsme provedli pomocí Sangerova sekvenování skríning exonů 2, 8, 20 a 21 genu KIF21A. Stejnou metodou jsme testovali přítomnost zjištěné mutace u dalších příbuzných. Výsledky: Klinické nálezy byly typické u všech postižených jedinců. Konkrétně byla přítomna ptóza a nehybnost bulbů ve vertikále i v horizontále kompenzovaná záklonem hlavy při přímém pohledu, snížení zrakové ostrosti přičítané amblyopii a paradoxní synkinézy. V genu KIF21A jsme nalezli v heterozygotním stavu již dříve popsanou mutaci c.2860C>T; p.(Arg954Trp) u všech dostupných postižených členů rodiny s CFEOM. U vnuka probandky, který byl klinicky bez příznaků onemocnění, nebyla tato mutace nalezena. Závěr: CFEOM je závažné onemocnění, které vede celoživotně k funkčním a často i psychickým obtížím. Příčina onemocnění na úrovni genu byla u pacientů českého původu s touto vzácnou chorobou určena poprvé.

Aim: Congenital fibrosis of the extraocular muscles (CFEOM) is a rare autosomal dominant disorder characterized by bilateral non-progressive ophthalmoplegia and ptosis. The aim of this study was to identify the molecular genetic cause in a four-generation family with CFEOM and to describe the clinical findings in four affected and one unaffected member. Patients and methods: All patients underwent an eye examination. Exons 2, 8, 20 and 21 of the KIF21A gene were directly examined by Sanger sequencing in the proband. Sanger sequencing was also used to test for the presence of the detected mutation in other relatives. Results: Clinical findings were typical in all affected individuals manifesting as ptosis and severely limited vertical and horizontal eye movements with compensatory backward tilt of the head. All patients also had decreased visual acuity attributed to amblyopia and synkinetic eye movements; synergistic convergence on attempted vertical gaze and divergence in the downgaze. A known heterozygous mutation c.2860C>T; p.(Arg954Trp) in KIF21A was identified in all available affected family members with CFEOM. This mutation was not found in a grandson of the proband who had no clinical disease symptoms. Conclusion: CFEOM is a serious disorder leading to life-long functional and often psychological problems. The molecular genetic cause in patients of Czech origin has been discovered for the first time.

• Keywords
• kongenitální fibróza okohybných svalů, KIF21A,
• MeSH
• Blepharoptosis etiology   MeSH
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Ophthalmoplegia * genetics   pathology   therapy   MeSH
• Family MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Head and eye compensatory movements known as vestibulo-ocular and vestibulo-cervical reflexes are essential to stay orientated in space while moving. We have used a previously developed methodology focused on the detailed mathematical description of head compensatory movements in frogs without the need for any surgical procedures on the examined specimens. Our comparative study comprising 35 species of frogs from different phylogenetic backgrounds revealed species-specific head compensatory abilities ensuring gaze stabilization. Moreover, we found a strong phylogenetic signal highlighting the great ability of compensatory head movements in families of Pyxicephalidae and Rhacophoridae from the Natatanura group. By contrast, families of Dendrobatidae and Microhylidae exhibited only poor or no head compensatory movements. Contrary to our expectation, the results did not corroborate an ecomorphological hypothesis anticipating a close relationship between ecological parameters and the head compensatory movements. We did not find any positive association between more complex (3D structured, arboreal or aquatic) habitats or more saltatory behavior and elevated abilities of head compensatory movements. Moreover, we found compensatory movements in most basal Archeobatrachia, giving an indication of common ancestry of these abilities in frogs that are variously pronounced in particular families. We hypothesize that the uncovered proper gaze stabilization during locomotion provided by the higher head compensatory abilities can improve or even enable visual perception of the prey. We interpret this completely novel finding as a possible gyroscopic advantage in a foraging context. We discuss putative consequences of such advanced neuromotor skills for diversification and ecological success of the Natatanura group.

• MeSH
• Phylogeny * MeSH
• Head Movements * MeSH
• Fixation, Ocular * MeSH
• Anura classification   physiology   MeSH
• Animals MeSH
• Check Tag
• Animals MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

Lední hokej a gymnastika jsou dva rozdílné sporty se specifickým obsahem a specifickými motorickými nároky. Přes tyto rozdílnosti mohou být gymnastická průpravná cvičení vhodným doplňkem suché přípravy hokejistů prováděné mimo ledovou plochu. Gymnastická průpravná cvičení jsou charakte-ristická společnou stimulací kondičních a koordinačních pohybových funkcí s pozitivním dopadem na výkonné i řídicí složky. Rozvíjejí způsobilost koordinovat pohyb tělesných segmentů v prostoru a čase, kinestetickou citlivost a diferenciaci. Kromě toho přináší zařazování gymnastických průprav i kompenzační efekt vůči jednostranné zátěži s pozitivním dopadem v oblasti zdravotní prevence. Výsledky dotazníkového šetření mezi trenéry ledního hokeje mládežnických kategorií (11–17 let) vy-kazují výraznou podporu zařazování těchto aktivit v rámci suché přípravy. Z oslovených trenérů 74 % uvedlo, že gymnastické průpravy jsou pravidelnou součástí sportovní přípravy jejich týmů a 25 % je zařazuje nepravidelně. Na dotaz, jestli považují tento druh suché přípravy za účelný a má jejich podporu (bez ohledu na to, jestli jej zařazují) odpovědělo 81 % určitě ano, 19 % spíše ano a nikdo z oslovených respondentů se nevyjádřil negativně.

Ice hockey and gymnastics are two different sports with the specific content and specific motor abili-ties claims. In spite of these differences can be gymnastic preparation a good complement to the dry preparation carried out-off ice rink. Gymnastic exercises are based on joint stimulation of fitness func-tions and coordination functions with a positive impact on the performance and control folder. They develop the capacity to coordinate the movement of body segments in space, kinestetic sensitivity and differentiation. In addition, the gymnastic preparations brings a compensatory effect against unilateral load with a positive impact in the area of health prevention. The results of a questionnaire survey among the coaches ice hockey of youth category (11–17 years) reported strong support of the inclusion gymnastic activities in dry preparation. From the polled coaches 74 % said that gymnastic preparations are a regular part of sports training their teams and 25 % indicated posibility “irregularly”. When asked if they consider this kind of dry preparation for efficient and support of them (regardless if they do it) 81 % responded definitely Yes, 19 % rather Yes, and noone of the polled respondents reported No, or rather No.

• MeSH
• Gymnastics trends   education   MeSH
• Hockey * MeSH
• Humans MeSH
• Motor Skills MeSH
• Sports MeSH
• Exercise Movement Techniques MeSH
• Physical Education and Training MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH