Excessive daytime sleepiness in a patient with coexisting myotonic dystrophy type 1, myasthenia gravis and Graves' disease.

A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles.

Hyperglycemia and diabetes have different impacts on outcome of ischemic and hemorrhagic stroke.

Introduction: Stroke is the second leading cause of long-term disability and death worldwide. Diabetes and hyperglycemia may impact the outcome of stroke. We examined the impact of hyperglycemia and diabetes on in-hospital death among ischemic and hemorrhagic stroke patients.

Relapsing-Remitting Severe Bickerstaff's Brainstem Encephalitis - Case Report and Literature Review.

Background: Bickerstaff's brainstem encephalitis (BBE) is a very rare disease of the central nervous system. Aetiology of the disease is auto-immunological. However, it is not entirely understood.

Does interferon beta therapy affect survival of multiple sclerosis patients?

Multiple sclerosis (SM) is a chronic inflammatory and degenerative disease of the central nervous system. Its etiology has not been fully elucidated. For approximately 20 years, drugs have been used, successfully modifying the natural course of relapsing-remitting SM.

Increased levels of sphingosine-1-phosphate in cerebrospinal fluid of patients diagnosed with tick-borne encephalitis.

Background: Tick-borne encephalitis (TBE) is a serious acute central nervous system infection that can result in death or long-term neurological dysfunctions. We hypothesize that changes in sphingosine-1-phosphate (S1P) concentration occur during TBE development.

Methods: S1P and interleukin-6 (IL-6) concentrations in blood plasma and cerebrospinal fluid (CSF) were measured using HPLC and ELISA, respectively.

Quality of life in Polish patients with multiple sclerosis.

Purpose: This study is a pilot evaluation of the quality of life (QoL) in Polish patients with multiple sclerosis (MS).

Material/methods: Data from 21 centers in Poland were collected from May 2008 to January 2009. QoL was assessed using the questionnaire Euro Quality of Life (EQ-5D), with Polish population norms.

Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.

Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease due to deficiency or absence of arylsulfatase A enzyme (ASA) with sulfatide accumulation in the central and peripheral nervous system, kidneys, and gallbladder, leading to many dysfunctions. One of the clinical forms of the disease is a late juvenile MLD. To our best knowledge, this is the first report describing increased Tau/pTau and normal Aβ1-42 concentrations in the CSF of the late juvenile MLD patient.

CSF markers in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS, 'Lou Gehrig disease') is the most common, progressive, neurodegenerative, motor neuron disease, causing damage to upper and lower motor neurons, leading to paralysis and death within 3-5 years. Majority of ALS cases are sporadic ALS (SALS) and only 5-10 % of cases are familial ALS (FALS). Pathogenesis of ALS is complicated and still unclear, including genetic, glutamate excitotoxicity, oxidative stress, mitochondrial dysfunction, neurofilament accumulation, impaired trophic support, altered glial function, viral infection, immune imbalance and impairment of the blood-brain, blood-spinal cord and blood-cerebrospinal fluid barriers (BBB/BSCB/BCSFB).

[Neurological and emotional profile of carpal tunnel syndrome patients].

Unlabelled: Our aim was to define the type and frequency of symptoms in patients with neurophysiologically confirmed carpal tunnel syndrome (CTS). We also assessed the incidence of anxiety and depression in CTS and control group.

Material And Methods: After carrying out neurophysiologic examination 87 patients were diagnosed with CTS, 50 patients without confirmed CTS diagnosis served as a control group.

Depletion of plasma gelsolin in patients with tick-borne encephalitis and Lyme neuroborreliosis.

Background/aims: Cell damage during the course of inflammation results in cytoplasmic actin release, which if not eliminated by the extracellular actin scavenger system, composed of gelsolin and vitamin D binding protein, can cause dysfunction of hemostasis and toxicity towards surrounding cells. In this study, we test the hypothesis that an inflammatory reaction induced by central nervous system infections such as tick-borne encephalitis (TBE) or Lyme neuroborreliosis (LNB) will result in plasma gelsolin concentration changes in the blood and cerebrospinal fluid (CSF).

Methods: Quantitative Western blot was used to determine gelsolin levels in 58 samples, which include: 29 patients without infection (diagnosed with conditions such as idiopathic cephalalgia, idiopathic Bell's facial nerve palsy and ischialgia due to discopathy in which standard CSF diagnostic tests show no abnormalities), 12 patients diagnosed with TBE, and 17 patients diagnosed with LNB sub forma meningitis.

The natural history of Möbius syndrome in a 32-year-old man.

Möbius syndrome (OMIM#157900) is an extremely rare congenital entity involving bilateral or unilateral palsy of the facial nerve, usually with dysfunction of other cranial nerves (second, third, fifth, sixth, ninth, tenth and twelfth). It was estimated that Möbius syndrome occurs in 1 of 50 000 live births. The aetiology and the pathogenesis of the syndrome remain unknown.

Cerebrospinal fluid leakage--reliable diagnostic methods.

Prompt diagnosis and early treatment of cerebrospinal fluid (CSF) leakage minimizes the risk of severe complications. In patients presenting with clear fluid nasal discharge it is important to identify the nature of the rhinorrhea. The CSF leakage may occur as post-traumatic, iatrogenic, spontaneous or idiopathic rhinorrhea.

[Rehabilitation in patients with Parkinson's disease living in the region of Bialystok].

Unlabelled: Parkinson's disease is one of the most common progressive neurodegenerative diseases of the brain, usually leading to significant disability. Rehabilitation, in addition to symptomatic pharmacotherapy, should be the mainstay of treatment for each patient. The aim of this study was to collect data on the use of different methods of rehabilitation treatment for patients with Parkinson's disease living in the area of Bialystok (before 1998 the province of Bialystok) and evaluation of environmental, social and health factors, which affect the use of this form of treatment.

Moyamoya disease: Diagnostic imaging.

Moyamoya disease is a progressive vasculopathy leading to stenosis of the main intracranial arteries. The incidence of moyamoya disease is high in Asian countries; in Europe and North America, the prevalence of the disease is considerably lower. Clinically, the disease may be of ischaemic, haemorrhagic and epileptic type.

Selected aspects of the epidemiology of multiple sclerosis in Poland - a multicentre pilot study.

Background And Purpose: The aim was to conduct a pilot study of selected epidemiological aspects of multiple sclerosis (MS) in Poland.

Material And Methods: Cross-sectional data were collected in 21 centres providing MS treatment. The demographic profile of the patients, medical history of MS, disability status, comorbidity, and diagnostic and treatment modalities were analysed.

Hypogelsolinemia, a disorder of the extracellular actin scavenger system, in patients with multiple sclerosis.

Background: Extracellular gelsolin (GSN) and GC-globulin/Vitamin D-binding protein (DBP) appear to play an important role in clearing the actin from extracellular fluids and in modulating cellular responses to anionic bioactive lipids. In this study we hypothesized that cellular actin release and/or increase in bioactive lipids associated with multiple sclerosis (MS) development will translate into alteration of the actin scavenger system protein concentrations in blood and cerebrospinal fluid (CSF) of patients with MS.

Methods: We measured GSN and DBP concentrations in blood and CSF obtained from patients diagnosed with MS (n = 56) in comparison to a control group (n = 20) that includes patients diagnosed with conditions such as idiopathic cephalgia (n = 11), idiopathic (Bell's) facial nerve palsy (n = 7) and ischialgia due to discopathy (n = 2).

[Peripheral neuropathies in Lyme borreliosis].

Unlabelled: Lyme borreliosis is a multisystem disease and when involves the nervous system it is termed neuroborreliosis. The symptomatology of peripheral neuroborreliosis is rich and varied. The early symptoms are asymmetric polyradiculopathies and paralysis of the cranial nerves (most commonly facial nerve).

Plasma gelsolin modulates cellular response to sphingosine 1-phosphate.

Hypogelsolinemia is observed in patients with different states of acute or chronic inflammation such as sepsis, rheumatoid arthritis, and multiple sclerosis. In animal models of sepsis, repletion of plasma gelsolin reduces septic mortality. However, the functions of extracellular gelsolin and the mechanisms leading to its protective nature are poorly understood.

Intrathecal increase of sphingosine 1-phosphate at early stage multiple sclerosis.

Sphingosine 1-phosphate (S1P) is a pleiotropic mediator that is critically involved in the development of an inflammatory response in various pathological conditions. We hypothesize that during the course of multiple sclerosis (MS) development, chronic inflammation will result in the alteration of S1P levels in blood and cerebrospinal fluid (CSF). We evaluated S1P concentrations in blood and CSF obtained from 66 subjects, including 40 patients diagnosed with MS and 26 subjects of a control group that included patients diagnosed with idiopathic cephalgia and idiopathic (Bell's) facial nerve palsy.

[Moyamoya disease as a rare cause of ischaemic stroke--case report].

Unlabelled: Moyamoya disease is a rare, progressive disease of the vessels diagnosed according to characteristic abnormalities of brain arteries in the angiography. The incidence of moyamoya disease in Europe is lower than in Asia and its clinical course in European population is probably different from Asiatic (older age of onset and rare incidence of hemorrhagic strokes).

Case Reports: Two young patients were diagnosed as moyamoya disease on the basis of clinical symptoms (ischaemic stroke) and results of brain vessels' angiography, which documented an occlusion of both internal carotid arteries above branching-off the ocular arteries in the first patient and stenosis of distal internal carotid arteries and proximal medial and anterior cerebral arteries in the second one.

[A case of Pompe disease treated with acid alpha-glucosidase].

Pompe disease (type II glycogenosis--GSD II) is a progressive metabolic myopathy caused by lysosomal storage of glycogen due to deficiency of acid alpha-glucosidase. We present the case of a 32-year-old patient with Pompe disease diagnosed 14 years ago in whom enzyme replacement therapy with recombinant human acid alpha-glucosidase (rhGAA) (20 mg/kg i.v.

Extracellular gelsolin binds lipoteichoic acid and modulates cellular response to proinflammatory bacterial wall components.

The various functions of gelsolin in extracellular compartments are not yet clearly defined but include actin scavenging and antiinflammatory effects. Gelsolin was recently reported to bind endotoxin (LPS) from various Gram-negative bacteria with high affinity. In this study we investigate whether gelsolin also interacts with bacterial wall molecules of Gram-positive bacteria such as lipoteichoic acid (LTA) and whether gelsolin's interaction with bacterial lipids from Gram-negative or Gram-positive bacteria affects their cellular inflammatory responses.

[Transient cortical blindness--a complication after coronary angiography--case report].

Transient cortical blindness is a very rare complication of cardiovascular and cerebral angiography procedures. We present a case of 63-years-old woman, who developed cortical blindness after coronary angiography. Computed tomography (CT) done immediately after blindness appearance showed bilateral hyperintensive areas (probably due to a leakage of contrast medium) in the occipital and parietal cerebral lobes.