Damage to the orbicularis oculi muscle may impair the development of dermatochalasis.

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.

SARS-CoV-2 infection activating a novel variant of the NOTCH3 gene and subsequently causing development of CADASIL.

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.

The evaluation of the skin-muscle and only-skin upper blepharoplasty featuring surface electromyography: a single-masked, randomized split-face prospective study.

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.

An Analysis of the Incidence and Cost of Intracranial Aneurysm and Subarachnoid Haemorrhage Treatment between 2013 and 2021.

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.

MMP-9, TIMP-1 and S100B protein as markers of ischemic stroke in patients after carotid artery endarterectomy.

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.

The Feasibility of Surface Electromyography in Monitoring Orbicularis Oculi Recovery after Anterior Approach Levator Aponeurosis Advancement.

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.

Radiological Manifestation of Neurological Complications in the Course of SARS-CoV-2 Infection.

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.

Creutzfeldt-Jakob disease mimicking Lewy body dementia - a case report. / Choroba Creutzfeldta-Jakoba o poczatkowym przebiegu nasladujacym otepienie z cialami Lewy'ego ­ opis przypadku.

Lewy body dementia and Creutzfeldt-Jakob disease are recognized on the basis of certain diagnostic criteria. However, common symptoms such as: dementia, extrapyramidal syndrome, psychotic disorders may cause difficulty to make the correct diagnosis especially in the early stage of the disease. Each of these diseases may have atypical onset. The further course and the appearance of other symptoms indicate a proper diagnosis. Electroencephalogram and examination of 14-3-3 proteins in cerebrospinal fluid are helpful in the differential diagnosis. We present a case of a 66-year-old patient initially suspected of Lewy body dementia. On admission, psychomotor retardation, dysarthria, upper extremities dysmetria, extrapyramidal tension in the upper limbs, lower extremities ataxia, slow gait and unstable Romberg test were present. Mini-Mental State Examination (MMSE) score was 24/30. On neuropsychological assessment early stage of dementia was diagnosed. Anxiety-depressive symptoms were observed with periodic visual-auditory components. After less than 3 weeks there was a deterioration of neurological state. Dysarthria and lower limbs ataxia were increased, ataxia of the trunk appeared and psychomotor retardation got worse. There was significant progression of cognitive impairment, therefore complete neuropsychological examination was impossible to perform. MMSE score was 12/30 (12 points less than three months earlier). The course of the disease and additional tests results confirmed the diagnosis of sporadic Creutzfeldt-Jakob disease.

Encephalomyelitis associated with rheumatoid arthritis: a case report.

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.

Clinical features of neurological patients with coronavirus 2019: an observational study of one centre.

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.

Ischaemic background of brain fog in long-haul COVID-19 - a nuclear magnetic resonance spectroscopy-based metabonomic analysis. Preliminary 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.

Real-world effectiveness of fingolimod in Polish group of patients with relapsing-remitting multiple sclerosis.

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.

Brain Functional Reserve in the Context of Neuroplasticity after Stroke.

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.

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

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.

MMP-9 and/or TIMP as predictors of ischaemic stroke in patients with symptomatic and asymptomatic atherosclerotic stenosis of carotid artery treated by stenting or endarterectomy - A review.

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.

Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data.

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.

Comprehensive imaging of stroke - Looking for the gold standard.

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.

Posterior reversible encephalopathy syndrome with neurological sequelae - a case report.

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.

The Frequency of c.550delA Mutation of the CANP3 Gene in the Polish LGMD2A Population.

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.

Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

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).