Search

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).)

Background: Even though upper blepharoplasty is one of the most commonly performed procedures in esthetic surgery, there is still no consensus regarding the management of the orbicularis oculi muscle (OOM)., Aim: To compare outcomes of upper eyelid blepharoplasty with or without OOM excision using surface electromyography in a 12 month follow-up., Methods: A prospective, randomized, single-blinded comparative split-face study was conducted on 26 patients with dermatochalasis. Skin-only upper blepharoplasty was performed on a randomly selected side, and on the contralateral side, a strip of OOM was resected as well. The functional outcomes were assessed using sEMG, and the esthetics were evaluated independently by the operating surgeon, blinded patients, and three blinded ophthalmic surgeons., Results: The RMS values of maximal contraction of the OOM were statistically significantly lower two weeks after blepharoplasty than the values before surgery in both groups (p < 0,001) and reached the preoperative values after six months. Lagophthalmos occurred in 2 cases in the skin-muscle group (7.69%), and no incidence of lagophthalmos was observed in the skin group. There were comparable esthetic outcomes on both operated sides., Conclusions: This study is an objective and quantitative report using surface electromyography on upper blepharoplasty with or without a strip of OOM excision. Our results showed that OOM fully recovers after the stripping procedure. The resection of the skin-OOM flap showed no difference in long-term cosmetic results. Therefore, we recommend OOM preservation during upper blepharoplasty unless muscle excision is well-grounded., (© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)

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.

Ischemic stroke is the main cause of permanent disability in adult patients. No commonly accepted method were discovered to predict stroke before the first symptoms. Activation of matrix metalloproteinases (MMPs), tissue inhibitor of metalloproteinases (TIMP) and S100B protein may be observe in patients with symptomatic carotid artery stenosis. Hemorrhagic transformation of ischemic stroke may be associated with changes in MMP, TIMP and S100B., Aim: The aim of this study was to determine if MMP-9, TIMP-1 and S-100B protein may markers of forthcoming ischemic stroke in patients undergoing carotid endarterectomy., Materials and Methods: Blood samples were taken and an analysis of circulating proteins (MMP-9, TIMP-1, S100B) 73 subsequent patients with carotid artery stenosis ≥70% (33 asymptomatic and 40 symptomatic), who were referred for potential revascularization., Results: A statistically significant difference was found between MMP- 9 levels in patients with ischemic stroke compared to patients with asymptomatic carotid stenosis after endarterectomy. Also, average TIMP-1 levels in patients with ischemic stroke and stenosis ≥70% were statistically significantly higher than the average levels in patients after endarterectomy. In terms of S-100B, a higher mean value was observed in patients with stroke than in endarterectomy group. No statistical differences were found in the levels of that proteins in the hemorrhagic transformation of ischemic stroke., Conclusions: Increased levels of MMP-9, TIMP-1 and S-100B in patients with ischemic stroke compared to patients with asymptomatic carotid stenosis after endarterectomy showed that abovementioned proteins may be a good predictive factor of ischemic stroke in patients undergoing carotid endarterectomy., (© 2022 MEDPRESS.)

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.

Objectives: Fingolimod is indicated for the treatment of relapsing-remitting multiple sclerosis (RRMS) patients with highly aggressive disease characterized by frequent relapses and active magnetic resonance imaging. Its efficacy has been demonstrated in three large phase III trials, used in the regulatory submissions throughout the world. Fingolimod in licensed in Europe since 2011 but with a growing number of disease-modifying drugs (DMD) becoming available for RRMS, it is important to gather real-world evidence data regarding long-term effectiveness in treated patients with MS. The aim of this study was to assess fingolimod effectiveness in a real life Polish group of RRMS patients receiving fingolimod as second line treatment., Patients and Methods: The observational study with retrospective data collection was performed at 13 sites that were asked to document eligible patients in consecutive chronological order to avoid selection bias. Demographic and clinical data from 253 adult patients with RRMS treated with fingolimod were analyzed., Results: Mean treatment time with fingolimod was 42 months. Relapses reduction during 3 years treatment period was observed (2.0 v 0.2) and majority of patients were free of relapses. Mean EDSS score was stable during the time of observation. The proportion of patients who were free from any clinical disease activity, i.e. without relapses and disability progression, was over 70%. During the first and second year of observation significant reduction of new MRI lesions was observed., Conclusion: In the Polish group of patients with RRMS treated with fingolimod, the majority of them showed freedom from relapses, disability progression and reduction of new MRI lesions. Switching from injectable immunomodulatory drugs to fingolimod is associated with fewer relapses and lower disability progression., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Diseases related to DNA polymerase gamma dysfunction comprise of heterogeneous clinical presentations with variable severity and age of onset. Molecular screening for the common POLG variants: p.Ala467Thr, p.Trp748Ser, p.Gly848Ser, and p.Tre251Ile has been conducted in a large population cohort (n = 3123) and in a clinically heterogeneous group of 1289 patients. Recessive pathogenic variants, including six novel ones were revealed in 22/26 patients. Infantile Alpers-Huttenlocher syndrome and adulthood ataxia spectrum were the most common found in our group. Distinct molecular profile identified in the Polish patients with significant predominance of p.Trp748Ser variant (50% of mutant alleles) reflected strikingly low population frequency of the three remaining variants and slightly higher p.Trp748Ser allele frequency in the general Polish population as compared to the non-Finish European population., (Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.)

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.)

Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age. Half of the patients had systemic features, including hearing loss (40%), retinal abnormalities (37%) and developmental delay (8%). We found an inverse correlation between repeat size and disease severity, similar to adult-onset FSHD. De novo FSHD1 mutations were more prevalent than in adult-onset FSHD. Compared to adult FSHD, our findings indicate that early onset FSHD is overall characterized by a more severe muscle phenotype and a higher prevalence of systemic features. However, similar as in adults, a significant clinical heterogeneity was observed. Based on this, we consider early onset FSHD to be on the severe end of the FSHD disease spectrum. We found natural history studies and treatment studies to be very scarce in early onset FSHD, therefore longitudinal studies are needed to improve prognostication, clinical management and trial-readiness., (Copyright © 2017 Elsevier B.V. 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.)

Posterior reversible encephalopathy syndrome (PRES) is a set of neurological symptoms including impaired consciousness, cognitive disorders, seizures, blurred vision, dizziness and headache. The symptoms are closely related to the location of pathological changes in the brain; bilateral occipitto-parietal region is most often affected. Both focal neurological symptoms and encephalopathy are usually transient. We present the case of 64-year-old woman with PRES. She suffered from many internal diseases and was admitted to the hospital due to impaired consciousness, speech disorders, balance disorders. Significant neurological deterioration was observed within several days from the onset. Differential diagnosis included stroke and viral neuroinfection (cytosis 23 cells /ul, protein level of 93 mg/dl); magnetic resonance examination revealed lesions typical for posterior reversible encephalopathy.After 6 weeks of hospitalization patient condition improved, but did not restore to the premorbid state. The patient was discharged with generalized cognitive impairment., (© 2016 MEDPRESS.)

Background: Limb girdle muscular dystrophy 2A (LGMD2A) is the most frequent LGMD variant in the European population, representing about 40% of LGMD. The c.550delA mutation in the CANP3 (calcium activated neutral protease 3) gene is the most commonly reported mutation in LGMD2A. Prevalence of this mutation in the Polish population has not been previously investigated. The aim of this study was to identify and estimate the frequency of the c.550delA mutation in Polish LGMD2A patients., Methods: Polymerase chain reaction-sequencing analysis, restriction fragment length polymorphism polymerase chain reaction method., Results: We analyzed 76 families affected with LGMD and identified 62 probands with mutations in the CANP3 gene. C.550delA was the most common mutation identified, being found in 78% of the LGMD2A families. The remaining mutations observed multiple times were as follows: c.598-612del15ntd; c.2242C>T; c.418dupC; c.1356insT, listed in terms of decreasing frequency. Two novel variants in the CANP3 gene, that is, c.700G>A Gly234Arg and c.661G>A Gly221Ser were also characterized. Overall, mutations in the LGMD2A gene were estimated to be present in 81% of patients with the LGMD phenotype who were without sarcoglycans and dysferlin deficiency on immunocytochemical analysis. The frequency of the heterozygous c.550delA mutation in the healthy Polish population was estimated at 1/124., Conclusions: The c.550delA is the most frequent CANP3 mutation in the Polish population, thus sequencing of exon 4 of this gene could identify the majority of LGMD2A patients in Poland.

Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset. Contraction of the D4Z4 repeat on chromosome 4q35 is causally related to facioscapulohumeral muscular dystrophy type 1, and the residual size of the D4Z4 repeat shows a roughly inverse correlation with the severity of the disease. Contraction of the D4Z4 repeat on chromosome 4q35 is believed to induce a local change in chromatin structure and consequent transcriptional deregulation of 4qter genes. We present early-onset cases in the Polish population that amounted to 21% of our total population with facioscapulohumeral muscular dystrophy. More than 27% of them presented with severe phenotypes (wheelchair dependency). The residual D4Z4 repeat sizes ranged from 1 to 4 units. In addition, even within early-onset facioscapulohumeral muscular dystrophy type 1 phenotypes, some cases had uncommon features (head drop, early disabling contractures, progressive ptosis, and respiratory insufficiency and cardiomyopathy)., (© The Author(s) 2014.)

Introduction: The DWI/FLAIR mismatch is a potential radiological marker for the timing of stroke onset. The aim of the study was to assess if the DWI/FLAIR mismatch can help to identify patients with both lacunar and nonlacunar acute ischemic stroke within 4.5 h of onset., Methods: A retrospective study was performed in which the authors analysed data from 86 ischemic lacunar and nonlacunar stroke patients with a known time of symptom onset, imaged within the first 24 h from stroke onset (36 patients <4.5 h, 14 patients 4.5-6 h, 15 patients 6-12 h, and 21 patients 12-24 h). Patients underwent the admission CT and MR scan. The presence of lesions was assessed in correlation with the duration of the stroke., Results: The time from stroke onset to neuroimaging was significantly shorter in patients with an ischemic lesion visible only in the DWI (mean 2.78 h, n = 24) as compared to patients with signs of ischemia also in other modalities (mean 8.6 h, n = 62) (p = 0.0001, Kruskal-Wallis ANOVA). The DWI/FLAIR mismatch was characterised by a global sensitivity of 58%, specificity 94%, PPV 87.5%, and NPV 76% in identifying patients in the 4.5 h thrombolysis time window. For lacunar strokes (n = 20), these parameters were as follows: sensitivity 50%, specificity 92.8%, PPV 75 %, and NPV 81.2%., Conclusions: The presence of acute ischemic lesions only in DWI can help to identify both lacunar and nonlacunar stroke patients who are in the 4.5 h time window for intravenous thrombolysis with high specificity.

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: 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.

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.

Dilated cardiomyopathy is one of the leading abnormalities in Emery-Dreifuss Muscular Dystrophy (EDMD). The pathogenesis of heart involvement in EDMD is, however, unknown. Autoimmune mechanisms have also to be taken into account. The aim of this study was to search for the presence of anti-heart antibodies in EDMD patients. The anti-heart auto-antibodies were detected in serum of 14 EDMD patients (the X-linked and the AD-Autosomal Dominant form). The control groups comprised 10 patients with Dilated Cardiomyopathy (DCM) and 10 healthy subjects. To screen serum for anti-heart antibodies against ventricular muscle proteins, they were separated by polyacrylamide gel electrophoresis, followed by Western blotting. In EDMD and DCM, IgG anti-heart antibodies against heart ventricular proteins were detected. In both diseases, 85 kD protein appeared to be the most immunogenic. Anti-troponin I (24 kD), anti-tropomyosin (35 kD) and anti-actin (43 kD) reactivity was less intense. There were significant differences in the reactivity of auto-antibodies between both EDMD forms, and also between EDMD and the DCM patients. No clear-cut correlation between the reactivity and frequency of the antibodies and clinical parameters of the EDMD patients was detected. The anti-heart proteins are reliable markers of immune involvement in dilated cardiomyopathy in the course of EDMD. Short- and long-term follow-up may define the role of anti-heart antibodies in predicting the susceptibility at risk of dilated cardiomyopathy in EDMD patients.

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.

Facioscapulohumeral muscular dystrophy (FSHD) is a primary muscle disorder with autosomal dominant inheritance. FSHD was mapped to chromosome 4 locus q35, but the gene is not yet known. It is characterised by progressive, often asymmetric, selective muscular weakness and great clinical variability. The aim of the study was to analyze 62 FSHD cases from 44 Polish families in which the diagnosis was confirmed by DNA analyses. FSHD diagnosis was based on the clinical findings and standardized investigations confirming primary muscular involvement (EMG, muscle biopsy). DNA analysis was based on EcoRI/BlnI restriction enzyme digestion followed by hybridization with P13E-11 molecular probe. In our material, we have found a relatively large percentage (41%) of big deletions (EcoRI/BlnI fragment of 10-15 kb [kilo bases]), which in the majority of cases (67%) was present in isolated cases. In 10 families (23%) the phenotype was assessed as severe. These are cases with the onset before the age of 10 and fast progression. "Middle sized" deletions (EcoRI/BlnI fragment of 16-29 kb) were prevalent in familial cases and present in 57% of families. "Small" deletion was found in one family (EcoRI/BlnI fragment of 30 kb). Somatic mosaicism was confirmed in one case. De novo mutations were shown in 11% of the examined families. The results of this study indicate that the bigger the deletion, the more severe the FSHD course, however there are some exceptions. A similar relationship has been shown by previous research. Molecular analyses are particularly important in atypical and sporadic cases. It is the first genetic presentation of a group of patients' with this kind of dystrophy in the Polish population.

Severe and early facioscapulohumeral muscular dystrophy (FSHD) is relatively rare. In this report, we describe a case of severe, infantile onset FSHD in a patient with asymmetric progressive ptosis and early hyperlordosis. DNA analysis revealed a very short 4q35 allele of 8.6 kb and a somatic mosaicism for the 4q35 deletion detected in a subclinically affected parent of the patient. This case demonstrates difficulties in the management of abnormal posture, especially early hyperlordosis in children with this disorder.

Facioscapulohumeral muscular dystrophy (FSHD) is a disorder of muscle with a progressive, often asymmetric wasting and weakness of facial, shoulder girdle and lower limbs muscles. No FSHD gene has been identified so far. The FSHD locus is known to be 4q35. The paper presents the clinical picture of FSHD including atypical cases, as well as its inter- and intrafamilial clinical variability. Molecular pathology and diagnostics of the condition are discussed, with particular attention paid to DNA analysis in FSHD.

Sarcoglycanopathies are relatively rare progressive muscular dystrophies. They belong to the so-called group of limb--girdle muscular dystrophies. They are inherited in an autosomal recessive fashion. Their phenotype resembles dystrophinopathies, because of proximal muscle weakness and frequent calves hypertrophy. Here we present the first Polish families in which sarcoglycanopathy was diagnosed.

Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the gene encoding the nuclear membrane protein emerin (X-linked EDMD) or in the gene encoding lamins A/C (autosomal dominant EDMD). One hypothesis explaining the disease suggests that the mutations lead to weakness of the nuclear lamina. To test this hypothesis we investigated lamin solubility and distribution in skin fibroblasts from X-EDMD patients. Using in situ extraction of cells and immunofluorescence microscopy or biochemical fractionation and immunoblotting, we found that all lamin subtypes displayed increased solubility properties in fibroblasts from X-EDMD patients compared to normal individuals. Lamin and emerin solubility was mildly increased in fibroblasts from an X-EDMD carrier. Biochemical fractionation and immunoblotting also indicated that lamin C but no other lamin became redistributed from the nuclear lamina to the nucleoplasm in X-EDMD fibroblasts. Indirect immunofluorescence and confocal microscopy studies using lamin A- and lamin C-specific antibodies confirmed that lamin C but not lamin A became redistributed to the nucleoplasm. Interestingly, the lamin A/C binding protein LAP2alpha was also mislocalized in X-EDMD fibroblasts.

Various laboratory tests were performed to establish carriership in 24 familial and sporadic carriers of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The activity of creatine kinase was in all females but one, very high and significantly higher in isolated carriers; quantitative EMG indicated myopathic changes, muscle biopsies revealed different degrees of changes--from a variability of muscle fibers size and central nuclei to severe dystrophic features. Immunohistochemical evaluation of dystrophin revealed, in all females but one, mosaic pattern of staining--a mixture of dystrophin-positive and dystrophin-negative fibers, the latter consist 15-30% of all fibers. Quantitative evaluation of dystrophin showed a reduced abundance with normal or abnormal molecular weight. The abnormalities were more expressed in sporadic cases. The detection of sporadic carriers, particularly the non-manifesting clinical, is a very important progress--it permits the correct diagnosis (before, these females were diagnosed as limb girdle muscle dystrophy (LGMD) and supply them with the benefit of genetic counselling, which also requires some modification.

Progressive muscular dystrophies with primary or secondary dystrophin glycoprotein complex components' deficit are described. Some variants of limb--girdle and congenital muscular dystrophies as well as Duchenne/Becker muscular dystrophy belong to this group. The structure of dystrophin glycoprotein complex (DGC) which is localised within muscle sarcolemma is presented. Usefulness of the assessment of the particular DGC components is underlined and importance of the resulting prognostic as well as diagnostic implications are stressed.

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterised by recurrent mononeuropathies. Electrophysiological studies reveal slowed conduction velocity in peripheral nerves. The main histopathological findings are focal thickenings of myelin-tomaculae. In most cases HNPP is associated with a deletion within PMP-22 (peripheral myelin protein; PMP) gene on chromosome 17p11.2. The gene penetration is almost complete but the expression may be variable. DNA analysis is of practical importance in diagnosing HNPP especially in sporadic cases and also in individuals without clinical and electrophysiological signs of neuropathy. We present the first Polish family with HNPP, in which the genetic defect has been confirmed by DNA analysis.