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Background: Age-related changes to the orbicularis oculi muscle include impaired eyelid function, such as lagophthalmos, alterations in tear film dynamics, and aesthetic changes like wrinkles, festoons, and the descent of soft tissue. To date, the structural and functional changes that would comprehensively increase our understanding of orbicularis aging have not been analyzed. This study aims to investigate functional outcomes using surface electromyography and correlate them with ultrastructural changes in orbicularis during aging. Methods : This study enrolled 26 patients aged 37 to 78 years with a clinical diagnosis of dermatochalasis. Patients were divided into two age groups (<60 years; ≥60 years). Ultrastructural and electromyographical examinations were performed, and the electromyographical signals were correlated with the ultrastructural damage in the orbicularis. Results : This study revealed significantly lower values of average voluntary contraction and RMS of the surface electromyography signals in the older age group compared to the younger age group ( p = 0.029 and p = 0.045, respectively). There was no statistically significant association between age and muscle damage (χ 2 (2) = 2.86, p > 0.05). There was no correlation between average voluntary contraction and the degree of ultrastructural damage in both groups (Spearman's coefficient equaled 0.06923 and 0.64366, respectively). Conclusions: sEMG measurements are valuable for monitoring age-related functional changes in the orbicularis. Aging diminishes the functional capacity of the orbicularis, as evidenced by reduced contraction strength. This study, the first to compare ultrastructural and electromyographical changes in the orbicularis among dermatochalasis patients of different ages, finds that ultrastructural damage to muscle fibers is not directly responsible for the contraction strength decline.

The purpose of this article is to investigate the changes that occur in the orbicularis oculi muscle (OOM) in patients with dermatochalasis. The OOM specimens from 26 patients were collected during upper eyelid blepharoplasty. Each specimen was divided into three parts, which were then examined using different techniques: formalin embedding for light microscopy, free freezing for histochemical examination, and fixation in 3% glutaraldehyde for electron microscopy. The severity of dermatochalasis was classified according to the anatomical landmarks. 78 specimens from patients with dermatochalasis were evaluated. Under light microscopy, specimens showed an increase in muscle fiber size variation, rounding of muscle fibers, and lobulation of myocytes in a fibrotic background. Under electron microscopy, loss of myofilaments, vacuolar vesicles, and swollen mitochondria were observed, along with osmophilic aggregates resembling nemadine bodies and collagen fibrils. A statistically significant association between the progression of dermatochalasis and the presence of aggregates resembling nemaline bodies was found (p- value < 0.005). Significant changes occur in the OOM in patients with dermatochalasis and the presence of aggregates resembling nemaline bodies is correlated with the degree of eyelid drooping. Thus, OOM may contribute in dermatochalasis progression., (© 2024. The Author(s).)

The incidence of unruptured intracranial aneurysms (UIAs) amounts to 3.2% among adults. The annual risk of aneurysm rupture is 2-10% and it results in subarachnoid haemorrhage (SAH). The aim of this study is to assess changes in the incidence of unruptured intracranial aneurysms and subarachnoid haemorrhages in Poland between 2013 and 2021 and the cost associated with their in-hospital treatment in the acute phase. The analysis was based on the National Health Fund database. Patients diagnosed with UIA and SAH and hospitalised between 2013 and 2021 were chosen. The statistical analysis was performed with an assumed significance level of α = 0.05. The ratio between the prevalence of SAH and UIA diagnoses was 4:6. The proportion of women in relation to men was higher in both diagnoses. The highest proportions of patients with diagnoses SAH and UIA were found in highly urbanised provinces. The value of medical services in 2021 compared to 2013 increased by 81.8%. The highest values in this period were recorded in Mazowieckie province, and the lowest were recorded in Opolskie province. The overall number of patients hospitalised with diagnosis of UIA or SAH did not decrease, but the risk of aneurysm rupture probably decreased, which resulted in lower incidence of SAH in subsequent years of observation. The recorded changes in the dynamics of the value of medical services per patient or per hospitalisation largely coincided. However, it is difficult to speculate on expected value levels as not all provinces showed linear changes in the value of services provided.

Background and Purpose: Recent studies suggested an increased incidence of cerebral venous thrombosis (CVT) during the coronavirus disease 2019 (COVID-19) pandemic. We evaluated the volume of CVT hospitalization and in-hospital mortality during the 1st year of the COVID-19 pandemic compared to the preceding year., Methods: We conducted a cross-sectional retrospective study of 171 stroke centers from 49 countries. We recorded COVID-19 admission volumes, CVT hospitalization, and CVT in-hospital mortality from January 1, 2019, to May 31, 2021. CVT diagnoses were identified by International Classification of Disease-10 (ICD-10) codes or stroke databases. We additionally sought to compare the same metrics in the first 5 months of 2021 compared to the corresponding months in 2019 and 2020 (ClinicalTrials.gov Identifier: NCT04934020)., Results: There were 2,313 CVT admissions across the 1-year pre-pandemic (2019) and pandemic year (2020); no differences in CVT volume or CVT mortality were observed. During the first 5 months of 2021, there was an increase in CVT volumes compared to 2019 (27.5%; 95% confidence interval [CI], 24.2 to 32.0; P<0.0001) and 2020 (41.4%; 95% CI, 37.0 to 46.0; P<0.0001). A COVID-19 diagnosis was present in 7.6% (132/1,738) of CVT hospitalizations. CVT was present in 0.04% (103/292,080) of COVID-19 hospitalizations. During the first pandemic year, CVT mortality was higher in patients who were COVID positive compared to COVID negative patients (8/53 [15.0%] vs. 41/910 [4.5%], P=0.004). There was an increase in CVT mortality during the first 5 months of pandemic years 2020 and 2021 compared to the first 5 months of the pre-pandemic year 2019 (2019 vs. 2020: 2.26% vs. 4.74%, P=0.05; 2019 vs. 2021: 2.26% vs. 4.99%, P=0.03). In the first 5 months of 2021, there were 26 cases of vaccine-induced immune thrombotic thrombocytopenia (VITT), resulting in six deaths., Conclusions: During the 1st year of the COVID-19 pandemic, CVT hospitalization volume and CVT in-hospital mortality did not change compared to the prior year. COVID-19 diagnosis was associated with higher CVT in-hospital mortality. During the first 5 months of 2021, there was an increase in CVT hospitalization volume and increase in CVT-related mortality, partially attributable to VITT.

Introduction: In the following study we describe the diagnostic process and further case analysis of a 30-year-old woman admitted with typical COVID-19 symptoms, who subsequently developed additional symptoms suggesting cerebral autosomal dominant arteriopathy with sub-cortical infarcts and leukoencephalopathy (CADASIL)., Material and Methods: Other than the standard diagnostic procedures, whole genome sequencing (WGS) was used, which led to following findings. A new variant of the NOTCH3 gene, which led to CADASIL-like symptoms, was found, and it had been most likely activated by the SARS-CoV-2 infection. This novel variant in NOTCH3 has not been found in existing databases and has never been mentioned in research concerning CADASIL before., Results: Furthermore, after subjecting the patient's close relatives to WGS it was found that no other examined person demonstrated the same genetic mutation., Conclusions: It seems therefore that the new variant of NOTCH3 is of de novo origin in the patient's genome. Additionally, the relatively early onset of CADASIL and the unexpectedly severe COVID-19 infection suggest that the two occurred simultaneously: the infection with SARS-CoV-2 accelerated development of CADASIL symptoms and the unusual variant of the NOTCH3 gene contributed to the more severe course of COVID-19., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2022 Termedia & Banach.)

Introduction: In this article, we propose a new application for eyelid surface electromyography (sEMG). By placing the electrode in the mid-pretarsal area of the upper eyelid, one can easily perform a fast examination and achieve repeatable results. We believe that this technique may increase the feasibility of eyelid sEMG in clinical practice., Methods: 126 sEMG examinations of the upper eyelid were performed by using the above-described method. Thirty-nine controls and 29 ptotic patients were enrolled. The controls underwent one measurement while the ptotic patients were employed for four sessions: Before anterior approach levator aponeurosis advancement (LAA), 2 weeks, 3 months, and more than 6 months after surgery. The relaxation and maximal contraction of the orbicularis oculi muscle (OOM) using root mean square (RMS) values were measured., Results: The results showed a statistically significant decrease in RMS values of the maximal contraction of the OOM 2 weeks after surgery ( p < 0.05) and 3 months after surgery ( p = 0.03). Six months postoperatively, there were no statistically significant differences in OOM activity compared to preoperative values ( p = 0.2)., Conclusions: Eyelid sEMG may be a useful diagnostic tool in post-operative OOM recovery monitoring. sEMG parameters of the maximal contraction of the OOM normalize within 6 months after anterior approach LAA. Electrode placement in the mid-pretarsal area of the upper eyelid offers several advantages and therefore may enhance the feasibility of sEMG in clinical practice.

Forecasting is one of the cognitive methods based on empirical knowledge supported by appropriate modeling methods that give information about the way the relations between factors and how the phenomenon under study will develop in the future. In this article, a selection is made of a suitable architecture for a predictive model for a set of data obtained during testing of the properties of polymer composites with a matrix in the form of epoxy resin with trade name L285 (Havel Composites) with H285 MGS hardener (Havel Composites), and with the addition of the physical modifier noble alumina with mass percentages of 5%, 10%, 15%, 20% and 25% for the following grain sizes: F220, F240, F280, F320, F360, respectively. In order to select the optimal architecture for the predictive model, the results of the study were tested on five types of predictive model architectures results were tested on five types of prediction model architectures, with five-fold validation, including the mean square error (MSE) metric and R2 determined for Young's modulus (E t ), maximum stress (σ m ), maximum strain (ε m ) and Shore D hardness (⁰Sh). Based on the values from the forecasts and the values from the empirical studies, it was found that in 63 cases the forecast should be considered very accurate (this represents 63% of the forecasts that were compared with the experimental results), while 15 forecasts can be described as accurate (15% of the forecasts that were compared with the experimental results). In 20 cases, the MPE value indicated the classification of the forecast as acceptable. As can be seen, only for two forecasts the MPE error takes values classifying them to unacceptable forecasts (2% of forecasts generated for verifiable cases based on experimental results).

Purpose: Long-haul COVID-19 is a condition of unknown background occurring in COVID-19 survivors regardless of the severity of the SARS-CoV-2 infection itself. The aim of the study was to evaluate brain changes in patients suffering from variable symptoms of brain fog after COVID-19., Material and Methods: Eleven patients hospitalized due to symptoms of severe brain fog, i.e. insomnia, sudden impairment of cognitive function, headache, and depression, and 14 healthy volunteers underwent brain imaging including MR spectroscopy., Results: Routine MR imaging revealed no specific macroscopic changes in keeping with brain fog. Considering that the clinical manifestation of brain fog is transient, the evaluation of the metabolic status of the brain remained the method of choice. The concentration of the major cerebral metabolites, i.e. NAA, Cho, and Cr, remained stable. However, changes in Glx and Lac concentration were observed in MR spectroscopy., Conclusions: Following results along with clinical course of the brain for imply probable ischaemic background of symptoms., Competing Interests: The authors report no conflict of interest., (Copyright © Polish Medical Society of Radiology 2021.)

Many reports suggest the SARS-CoV-2 infection may result in neurological complications. A wide spectrum of clinical syndromes have been reported, including both central and peripheral nervous system. Such symptoms may be a consequence of a direct viral injury, secondary to systemic inflammatory response, autoimmune processes, ischemic lesions or combination of these. Anosmia and dysgeusia are highly prevalent in the early stage of infection. Cerebrovascular events in patients with COVID-19 have also been documented with increasing frequency. Some cases of parainfectious autoimmune neurologic manifestations concurrent with active SARS-CoV-2 infection have been described, including hemorrhagic necrotizing encephalopathy, Guillain-Barré and Miller-Fisher syndromes. There are also a few reports documenting encephalitis and acute demyelinating encephalomyelitis (ADEM) in the course of COVID-19. There is also a growing number of cases of patients after recovery from COVID-19 with psychosomatic disorders, manifesting with memory disfunction, cognitive functions disorders, depression or other affective disorders, which may lead to a decrease of intellectual functions. Many of these neurological manifestations of the infection are possible to distinguish using radiological imaging techniques. It plays a very important role in evaluating the course of COVID-19 as well as diagnosing respiratory complications and choosing a proper management of infected patients. Similarly, radiological techniques play crucial role in identifying the cause of neurological symptoms connected to SARS-CoV-2 infection, being one of the most important elements of diagnostics. Especially in case of the presence of nervous system implication, using radiological imaging techniques to monitor the emerging onset of various symptoms is crucial to assess the severity and scope of involvement. Quick diagnostic process and identifying complications as fast as possible in order to implement specific treatment can be crucial to avoid long-term secondary conditions and accelerate the recovery period. In this review, we present the most important neurological complications that may occur in the course of SARS-CoV-2 infection and summarize their radiological manifestations., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Sklinda, Dorobek, Wasilewski, Dreżewski, Dȩbicka, Walecki and Mruk.)

Background: Since the emergence of coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 (Severe acute respiratory syndrome coronavirus 2) in Wuhan, China, it has been extensively studied by many scientists. Susceptibility to SARS-CoV-2 infection is shown by people of all ages, especially those with different comorbidities. Our goal was to describe the clinical characteristics, treatment, course, and outcome of COVID-19 in patients with pre-existing neurological disorders., Method: We retrospectively studied 70 patients with COVID-19 and previous neurological diseases who were treated in the Central Clinical Hospital of the Ministry of the Interior and Administration from 16 March to 15 June 2020. Demographic data, symptoms, image data, laboratory results, treatment methods and results, clinical signs and symptoms of patients hospitalised due to CNS diseases with COVID-19 were collected., Results: The average age of hospitalised patients was 72, and the majority (63%) were women (44/70). The most common neurological disease was dementia, which was present in almost a third of patients (30.76%), followed by ischaemic stroke (24.61%). Chest imaging showed the presence of interstitial changes in 47% (33) of patients. Laboratory tests revealed increased total blood cells, increased levels of C-reactive protein, procalcitonin, D-dimers, liver indicator markers and IL-6 in the most severely affected patients. The treatment of patients was focused on monitoring their clinical condition, and supporting respiratory inefficiency with passive oxygen therapy and mechanical ventilation. According to the guidelines of the Hospital Therapeutic Committee, pharmacological treatment (Arechin®, Kaletra®) was introduced in cases without contraindications. In patients with moderate COVID-19, antimalarial or antiviral agents were applied (78%). 30% of our observed patients died during the hospitalisation., Conclusions: We studied a select group of patients (elderly, with comorbidities, and moderate or severe COVID-19 course). Pre-existing neurological disorders were additionally associated with a poorer prognosis and a high fatality rate (30%). Dementia and CNS vascular disorder were the most frequent pre-existing neurological conditions. The neurological symptoms of COVID-19 were various. We observed impaired consciousness, dizziness, headache, nausea, myalgia, psychomotor agitation and slowness, delirium, and psychoses. Further analysis is needed to elucidate the incidence of COVID-19 neurological complications.

Encephalitis/encephalomyelitis in the course of rheumatoid arthritis (RA) remains a matter of debate. We present a case of a patient with encephalomyelitis associated with RA confirmed with post-mortem neuropathological examination. A 68-year-old woman with a long-standing, seropositive history of RA presented progressive disturbances of consciousness. Magnetic resonance imaging (MRI) of the brain and cervical spine revealed an increase of signal intensity on T2-weighted and fluid attenuated inversion recovery (FLAIR) images with corresponding restricted diffusion involving cerebral peduncles, pons, medulla oblongata, and cervical spinal cord and mild contrast-enhancement of the right cerebral peduncle. Extensive radiological and laboratory testing, including autoantibodies to paraneoplastic anti-neuronal and neuronal cell surface antigens, were all negative except for elevated rheumatoid factor. Cerebrospinal fluid (CSF) analysis revealed moderate pleocytosis with mononuclear cell predominance, mildly increased protein level, and negative viral PCRs, bacterial cultures, flow cytometry, and neuronal surface antibodies. Despite intensive treatment with corticosteroids, antibiotics, antiviral drugs, and intravenous immunoglobulin the patient died after 3 months of hospitalization. Post-mortem neuropathological examination revealed numerous, disseminated, heterochronous ischaemic lesions, rarely with haemorrhagic transformation, predominantly in the brainstem, and widespread, diffuse microglia and T-cell infiltrations with neuronal loss and astrogliosis, most severe in the frontal and temporal lobes. Mild, perivascular lymphocyte T infiltrations involved particularly small and medium-sized vessels and were associated with brainstem ischaemic lesions. The neuropathological picture confirmed diagnosis of encephalomyelitis, which together with the clinical course suggested association with RA. Concluding, encepha-lomyelitis due to RA remains a challenging, controversial entity that needs further research and the establishment of effective diagnostic and treatment guidelines.

Stroke is the second cause of death and more importantly first cause of disability in people over 40 years of age. Current therapeutic management of ischemic stroke does not provide fully satisfactory outcomes. Stroke management has significantly changed since the time when there were opened modern stroke units with early motor and speech rehabilitation in hospitals. In recent decades, researchers searched for biomarkers of ischemic stroke and neuroplasticity in order to determine effective diagnostics, prognostic assessment, and therapy. Complex background of events following ischemic episode hinders successful design of effective therapeutic strategies. So far, studies have proven that regeneration after stroke and recovery of lost functions may be assigned to neuronal plasticity understood as ability of brain to reorganize and rebuild as an effect of changed environmental conditions. As many neuronal processes influencing neuroplasticity depend on expression of particular genes and genetic diversity possibly influencing its effectiveness, knowledge on their mechanisms is necessary to understand this process. Epigenetic mechanisms occurring after stroke was briefly discussed in this paper including several mechanisms such as synaptic plasticity; neuro-, glio-, and angiogenesis processes; and growth of axon.

We still lack an optimal tool to predict ischaemic stroke in patients with symptomatic and asymptomatic carotid stenosis (CS). It has already been shown that patients at increased risk of ischaemic stroke can be identified based on the elevated plasma levels of metalloproteinases (MMPs) and reduced activity tissue inhibitor of metalloproteinase (TIMP). There are few studies presenting the role of MMP-9 and TIMP in ischaemic stroke both in patients with symptomatic and asymptomatic CS treated with stenting or endarterectomy, however we have not found any published review summarizing the role of abovementioned markers. MEDLINE was accessed via Pub Med, and searched for published studies that analyzed MMP-9 and TIMP levels in patients with asymptomatic and symptomatic internal carotid stenosis and/or examined these parameters as potential risk markers for ischaemic stroke. A total of 13 articles documenting the outcomes of patients with symptomatic or asymptomatic carotid stenosis treated by carotid stenting or endarterectomy, were analyzed. Statistically significant differences in the levels of MMP-9 and/or TIMP in patients with symptomatic and asymptomatic CS have been reported. Also the concentrations of MMP-9 and TIMP in CS patients subjected to stenting or endarterectomy were higher than in baseline group. Moreover higher levels of MMP-9 and decreased TIMP was reported to be associated with the risk of restenosis. This systematic review shows that available evidence regarding the dynamics of MMP-9 and TIMP levels may be a predictor of cerebrovascular events in both symptomatic and asymptomatic carotid stenosis in patients treated with stenting or endarterectomy., (Copyright © 2018 Polish Neurological Society. Published by Elsevier Sp. z o.o. All rights reserved.)

Background and Purpose: Stroke is the third cause of death worldwide. In recent decade there has been a marked progress in treatment and prevention of stroke, which was possible largely due to modern neuroimaging techniques. Early radiological confirmation of the diagnosis allows for introduction of fibrinolytic therapy and evaluation of ischaemic penumbra., Material and Methods: We have analysed clinical and imaging data of 92 patients with early stages of stroke. The sensitivity, specificity and possible influence on the choice of treatment were assessed for different neuroimaging techniques, including diffusion weighted and perfusion imaging in patients with hyperacute and acute stroke., Results: A non-contrast computed tomography (CT) allowed for the detection of early ischaemic changes with an overall sensitivity of 38% and 42% in patients in hyperacute phase. In a perfusion CT study the perfusion abnormalities in the area corresponding to the clinical symptoms were present in 79% of patients. The sensitivity of diffusion weighted imaging (DWI) alone was 95% and in conjunction with perfusion MR reached 100%., Conclusions: Our study proves that advanced neuroimaging modalities allow for a substantial increase of sensitivity when detecting changes in patients with acute ischaemic strokes and confirming the clinical diagnosis. We believe that MR in combination with DWI should be the imaging methods of choice in diagnosing acute stroke patients. Perfusion adds significant diagnostic value to structural techniques, particularly in clinically ambiguous cases. In cases with a clear clinical picture the data provided by a non-contrast CT study is sufficient for therapeutic decision making., (Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Background and Purpose: The outcome in acute stroke strongly depends on patient-related issues, as well as on the availability of human and diagnostic resources. Our aim was to evaluate safety and effectiveness of intravenous alteplase for stroke according to the time of admission to the hospital., Materials and Methods: We analyzed the data of all acute stroke patients treated with alteplase between October 2003 and December 2010, contributed to the Safe Implementation of Thrombolysis for Stroke registry from 27 Polish stroke centers. According to the time of admission we distinguished between: (1) non-working days (Friday 14:30-Monday 08:00 plus national holidays); (2) out-of-office hours (non-working days plus 14:30-08:00 during working days); and (3) night hours (time from 23:00 to 06:00). Patients admitted during regular working hours (Monday 08:00-Friday 14:30, excluding national holidays) were used as the reference., Results: Of 1330 patients, 448 (32.5%) were admitted on non-working days, 868 (65.3%) at out-of-office hours, and 105 (7.9%) during night hours. In multivariate logistic regression, none of the evaluated periods showed association with symptomatic intracranial hemorrhage, 7-day mortality, and neurological improvement ≥4 points in the National Institutes of Health Stroke Scale score at day 7. Patients admitted during night hours had lower odds (OR 0.53, 95% CI: 0.29-0.95, p=0.032) for achieving favorable outcome (modified Rankin Scale score 0-2)., Conclusions: There is no bad time for thrombolysis. Stroke centers should feel confident about the treatment outside regular working hours, irrespective of equipment and staff availability. However, it may be reasonable to pay additional attention during nighttime., (Copyright © 2014 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Background and Purpose: At present, more than 20 different forms of limb-girdle muscular dystrophies (LGMDs) are known (at least 7 autosomal dominant and 14 autosomal recessive). Although these different forms show some typical phenotypic characteristics, the existing clinical overlap makes their differential diagnosis difficult. Limb-girdle muscular dystrophy type 2 (LGMD2A) is the most prevalent LGMD in many European as well as Brazilian communities and is caused by mutations in the gene CAPN3. Laboratory testing, such as calpain immunohistochemistry and Western-blot analysis, is not totally reliable, since up to 20% of molecularly confirmed LGMD2A show normal content of calpain 3 and a third of LGMD2A biopsies have normal calpain 3 proteo-lytic activity in the muscle. Thus, genetic testing is considered as the only reliable diagnostic criterion in LGMD2A., Material and Methods: In an attempt to find a correlation between genotype and muscle pathology in limb-girdle muscular dystrophy 2A we performed histopathological investigation of a group of 31 patients subdivided according to the type of pathologic CAPN3 gene mutation., Results: In all biopsies typical features of muscular dystrophy such as fiber necrosis and regeneration, variation in fiber size and fibrosis were noted. Lobulated fibers were often encountered in the muscle biopsies of LGMD2A patients. Such fibers were more frequent in patients with 550delA mutation., Conclusions: These findings may be helpful in establishing diagnostic strategies in LGMD.

Background and Purpose: In recently published reports, electrophysiological findings were analysed, in some facioscapulo-humeral muscular dystrophy (FSHD) cases without genetic disease confirmation. In several reports, some electrophysiological findings were described, not specific for myopathy. The aim of study was to analyse electrophysiological findings in a genetically homogeneous FSHD group to find possible relationships between electromyography (EMG) abnormalities and clinical symptoms., Material and Methods: 37 patients with genetically proven FSHD (23 men and 14 women) aged 7-58 years (mean 28.8 years) were studied. Electromyographic examinations were done according to a uniform scheme for FSHD. Quantitative EMG examination was performed in vastus lateralis, tibialis anterior, deltoid and biceps brachii muscles., Results: There was no correlation between clinical features and electrophysiological findings. EMG confirmed myopathic changes in all patients with most advanced changes in tibialis anterior and deltoid muscles. Some of these changes were unspecific for myopathy and the degree of their intensity differed in particular muscles. The most advanced changes were observed in the tibialis anterior and deltoid muscles. The usefulness of the size index for myopathic processes assessment was confirmed. Analysis of so-called outliers for motor unit activity potential parameters did not show any new data for evaluation of the myopathic process. Myopathic changes in our material were not as advanced as those described in classical dystrophies. Histopathological examinations of skeletal muscle were normal in about 1/3 of patients., Conclusions: We established that myopathic changes are clearly present in FSHD, with different degrees of intensity, most pronounced in tibialis anterior and deltoid muscles. There was no correlation between electrophysiological findings and clinical features. The size index provided the highest motor unit potential diagnostic sensitivity in FSHD.

Background and Purpose: The aim of this study was to test the hypothesis that polymorphisms of the paraoxonase genes PON1 and PON2 may be associated with increased risk of developing multiple sclerosis (MS) in the Polish population., Material and Methods: We studied the significance of the PON gene polymorphisms C311S, A162G, Q192R and L55M in 221 patients (including 145 women) with MS and in 661 healthy controls. In the MS population, mean Expanded Disability Status Scale score was 2.92, mean age was 36.8 years, and mean disease duration was 7.7 years. PON genotyping was determined using polymerase chain reaction and restriction enzyme digestion., Results: According to our results, the PON1 and PON2 genotypes distribution did not differ between the MS patients and the controls., Conclusions: The polymorphisms of the PON genes studied are not related to increased risk of MS in the Polish population.

Emerin is a type II inner nuclear membrane (INM) protein of unknown function. Emerin function is likely to be important because, when it is mutated, emerin promotes both skeletal muscle and heart defects. Here we show that one function of Emerin is to regulate the flux of beta-catenin, an important transcription coactivator, into the nucleus. Emerin interacts with beta-catenin through a conserved adenomatous polyposis coli (APC)-like domain. When GFP-emerin is expressed in HEK293 cells, beta-catenin is restricted to the cytoplasm and beta-catenin activity is inhibited. In contrast, expression of an emerin mutant, lacking its APC-like domain (GFP-emerinDelta), dominantly stimulates beta-catenin activity and increases nuclear accumulation of beta-catenin. Human fibroblasts that are null for emerin have an autostimulatory growth phenotype. This unusual growth phenotype arises through enhanced nuclear accumulation and activity of beta-catenin and can be replicated in wild-type fibroblasts by transfection with constitutively active beta-catenin. Our results support recent findings that suggest that INM proteins can influence signalling pathways by restricting access of transcription coactivators to the nucleus.