BACKGROUND: Although there is evidence that shows worse cognitive functioning in male patients with multiple sclerosis (MS), the role of brain pathology in this context is under-investigated. OBJECTIVE: To investigate sex differences in cognitive performance of MS patients, in the context of brain pathology and disease burden. METHODS: Brain MRI, neurological examination, neuropsychological assessment (Brief International Cognitive Assessment in MS-BICAMS, and Paced Auditory Verbal Learning Test-PASAT), and patient-reported outcome questionnaires were performed/administered in 1052 MS patients. RESULTS: Females had higher raw scores in the Symbol Digit Modalities Test (SDMT) (57.0 vs. 54.0; p < 0.001) and Categorical Verbal Learning Test (CVLT) (63.0 vs. 57.0; p < 0.001), but paradoxically, females evaluated their cognitive performance by MS Neuropsychological Questionnaire as being worse (16.6 vs 14.5, p = 0.004). Females had a trend for a weaker negative correlation between T2 lesion volume and SDMT ([Formula: see text] = - 0.37 in females vs. - 0.46 in men; interaction p = 0.038). On the other hand, women had a trend for a stronger correlation between Brain Parenchymal Fraction (BPF) and a visual memory test (Spearman's [Formula: see text] = 0.31 vs. 0.21; interaction p = 0.016). All these trends were not significant after correction for false discovery rate. CONCLUSIONS: Although, females consider their cognition as worse, males had at a group level slightly worse verbal memory and information processing speed. However, the sex differences in cognitive performance were smaller than the variability of scores within the same sex group. Brain MRI measures did not explain the sex differences in cognitive performance among MS patients.

• MeSH
• kognice MeSH
• kognitivní dysfunkce * MeSH
• kognitivní poruchy * diagnóza   MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• mozek diagnostické zobrazování   MeSH
• neuropsychologické testy MeSH
• pohlavní dimorfismus MeSH
• roztroušená skleróza * komplikace   diagnostické zobrazování   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• fatální výsledek MeSH
• fibrilace síní terapie   MeSH
• intrakraniální embolie etiologie   MeSH
• katetrizační ablace škodlivé účinky   MeSH
• lidé středního věku MeSH
• lidé MeSH
• píštěl jícnu etiologie   MeSH
• srdeční síně patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• dopisy MeSH
• kazuistiky MeSH

Pro-inflammatory and anti-inflammatory cytokines have been shown to play a crucial role in the pathophysiology of multiple sclerosis (MS). We investigated the association between interleukin (IL) IL6-174 G/C (rs1800795), IL7RA C/T (rs6897932), and IL-12B A1188C (rs3212227) gene polymorphisms (SNPs) and MS. The study consisted of 297 unrelated MS patients and 135 healthy individuals. In IL6-174G/C (rs1800795), a significant association between the C allele and MS risk [OR 1.41, 95% CI (1.05-1.92); P = 0.025] was found. Carriage of genotypes CC and CG were more common in MS patients [OR 1.58, 95% CI (1.04-2.39); P = 0.031] and also in female MS patients [OR 1.68, 95% CI (1.02-2.79); P = 0.043]. However, after applying Bonferroni's correction the differences did not remain significant. No significant association between the IL7RA C/T (rs6897932) and IL12B A1188C (rs3212227) gene polymorphisms and MS susceptibility was observed. Regarding IL-12B A1188C (rs3212227), a significant association between the CC genotype and MS progression, expressed as MSSS, was demonstrated in the female MS group. Our results indicate that the distribution of IL6-174G/C (rs1800795) SNP was marginally associated with MS susceptibility. We also showed that IL-12B A1188C (rs3212227) can contribute to the progression of the disease in the Czech population.

• MeSH
• frekvence genu genetika   MeSH
• genetická predispozice k nemoci * MeSH
• genotyp MeSH
• interleukin-12 - podjednotka p40 genetika   metabolismus   MeSH
• interleukin-6 genetika   metabolismus   MeSH
• lidé MeSH
• receptory interleukinu-7 genetika   metabolismus   MeSH
• roztroušená skleróza genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• alemtuzumab škodlivé účinky   MeSH
• dospělí MeSH
• elektromyografie MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• nemoci periferního nervového systému chemicky indukované   diagnostické zobrazování   MeSH
• nervové vedení účinky léků   fyziologie   MeSH
• protinádorové látky imunologicky aktivní škodlivé účinky   MeSH
• roztroušená skleróza diagnostické zobrazování   farmakoterapie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• dopisy MeSH
• kazuistiky MeSH

Limited evidence suggests that specificity of cardiac troponin T (cTnT), a highly sensitive biomarker of myocardial injury, is reduced in patients with skeletal myopathies. Whether amyotrophic lateral sclerosis (ALS)-the most common motor neuron disease-could be also associated with abnormal plasma or serum cTnT levels remains unclear. Our objective was to assess cTnT levels in patients with ALS without known cTnT elevating conditions. Among ALS patients seen at our institution until 2012 we identified those who had their cTnT measured. Patients who suffered from conditions known to elevate cTnT were excluded. A case-control analysis comparing cTnT levels of these ALS patients to matched non-ALS controls fulfilling the same inclusion criteria was performed. We included 40 ALS patients of whom 27 (68 %) patients had a positive cTnT. In the control group (n = 40), 2 (5 %) tested as cTnT positive (p < 0.001). Among the ALS patients who underwent cTnT evaluation on more occasions (n = 7; median follow-up = 1.08 years), 2 (29 %) patients tested positive during the initial measurement while 6 (86 %) of them had positive cTnT at the subsequent evaluations. ALS patients with increased cTnT had been diagnosed with ALS significantly earlier than those without the elevation. Our findings raise the possibility that ALS may cause cTnT elevations. Further studies are needed to confirm these findings, clarify the pathophysiological mechanism, and establish the significance of cTnT elevations in patients with ALS.

• MeSH
• amyotrofická laterální skleróza krev   mortalita   MeSH
• biologické markery krev   MeSH
• dospělí MeSH
• Kaplanův-Meierův odhad MeSH
• lidé středního věku MeSH
• lidé MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• troponin T krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Botulinum toxin type A (BoNT-A) is recognized as the treatment of choice for patients with blepharospasm and facial hemispasm. We report the results of long-term BoNT-A therapy (15-20 years) in a group of patients with blepharospasm (9 patients) and hemifacial spasm (18 patients). We evaluated the number of treatment sessions, duration of therapeutic effects, side effects and their frequency during long-term therapy, and the differences between these two groups of patients. We used patient self-assessment and a patient questionnaire to evaluate the influence of the treatment on their quality of life. We have concluded that BoNT-A is an effective and safe long-term treatment of these facial dyskinesias. Despite the different pathophysiology of blepharospasm and facial hemispasm, the therapy effectiveness is comparable. The only differences were in the side effects. In patients with blepharospasm, the side effect frequency was higher and manifested by double vision or eyelid ptosis. In patients with facial hemispasm, the most frequent side effect was lower facial weakness. No association between therapy duration and side effect frequency was determined. Based on patient questionnaires, all patients believed that the treatment was safe and effective with a positive impact on their quality of life, especially in social communication.

• MeSH
• blefarospazmus farmakoterapie   psychologie   MeSH
• botulotoxiny typ A terapeutické užití   MeSH
• faciální paralýza farmakoterapie   psychologie   MeSH
• kvalita života psychologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• longitudinální studie MeSH
• nervosvalové látky terapeutické užití   MeSH
• průzkumy a dotazníky MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

Sodium disturbances are frequent and serious complications in neurocritically ill patients. Hyponatremia is more common than hypernatremia, which is, however, prognostically worse. The aim of this study was to analyse outcome and frequency of sodium disturbances in relation to measured serum osmolality in neurologic-neurosurgical critically ill patients. A 5-year retrospective collection of patients (pts) and laboratory data were made from the Laboratory Information System database in the Clinical Biochemistry Department. The criteria for patients' inclusion was acute brain disease and serum sodium (SNa(+)) <135 mmol/l (hyponatremia) or SNa(+) >150 mmol/l (hypernatremia). Hypoosmolality was defined as measured serum osmolality (SOsm) <275 mmol/kg, hyperosmolality as SOsm >295 mmol/kg. We performed analysis of differences between hyponatremia and hypernatremia and subanalysis of differences between hypoosmolal hyponatremia and hypernatremia. From 1,440 pts with acute brain diseases there were 251 (17 %) pts with hyponatremia (mean SNa(+) 131.78 ± 2.89 mmol/l, SOsm 279.46 ± 11.84 mmol/kg) and 75 (5 %) pts with hypernatremia (mean SNa(+) 154.38 ± 3.76 mmol/l, SOsm 326.07 ± 15.93 mmol/kg). Hypoosmolal hyponatremia occurred in 50 (20 % of hyponatremic patients) pts (mean SNa(+) 129.62 ± 4.15 mmol/l; mean SOsm 267.35 ± 6.28 mmol/kg). Multiple logistic regression analysis showed that hypernatremia is a significant predictor of mortality during neurologic-neurosurgical intensive care unit (NNICU) stay (OR 5.3, p = 0.002) but not a predictor of bad outcome upon discharge from NNICU, defined as Glasgow Coma Scale 1-3. These results showed that hypernatremia occurred less frequently than all hyponatremias, but more often than hypoosmolal hyponatremia. Hypernatremia was shown to be a significant predictor of NNICU mortality compared to hyponatremia.

• MeSH
• databáze faktografické MeSH
• dospělí MeSH
• Glasgowská stupnice následků MeSH
• hypernatremie metabolismus   mortalita   MeSH
• hyponatremie metabolismus   mortalita   MeSH
• jednotky intenzivní péče MeSH
• kritický stav mortalita   MeSH
• lidé středního věku MeSH
• lidé MeSH
• logistické modely MeSH
• multivariační analýza MeSH
• nemoci mozku mortalita   MeSH
• osmolární koncentrace MeSH
• prediktivní hodnota testů MeSH
• retrospektivní studie MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

In patients with Parkinson's disease with higher prevalence than in current population there appear pathological behaviours characterized by compulsion, repetitiveness and impulsivity, which are connected with material profit or pleasurable experience. They are, in particular, pathological gambling, hypersexuality, compulsive shopping and compulsive eating (in the literature they are collectively referred to as impulse control disorders). Pathological preoccupation with repeated mechanical activities (so-called punding) and excessive compulsive intake of dopaminergic medication (so-called dopamine dysregulation syndrome or also syndrome of hedonistic homeostatic dysregulation) are of similar nature. The paper treats briefly the risk factors and prevalence of these pathological behaviours. In current clinical practice, these psychiatric complications frequently escape doctors' attention, they are underdiagnosed. Although no generally valid recommendations for their therapy are currently available, they can be influenced medically. Of advantage can be modified dopaminergic medication (usually dose reduction ofdopaminergic agonists); multidisciplinary approach to the problem is appropriate. The pathological behaviours given above can frequently lead to considerable material losses and markedly aggravate patients' handicap in the social sphere; it can be expected that in the future they can become a problem also from the ethical and legal points of view.

• MeSH
• hráčství etiologie   psychologie   MeSH
• impulzivní poruchy diagnóza   epidemiologie   etiologie   prevence a kontrola   MeSH
• kvalita života MeSH
• lidé MeSH
• Parkinsonova nemoc komplikace   epidemiologie   psychologie   MeSH
• rizikové faktory MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• přehledy MeSH

We present a case of a patient with systemic vasculitis suffering--besides heart, skin and gastrointestinal lesions--from the rarely reported involvement of the central nervous system. Even though the diagnosis could not be ascertained precisely, immunosuppressive therapy led to prompt regression of symptoms including initially present neurologic manifestations.

• MeSH
• centrální nervový systém patologie   MeSH
• imunosupresiva terapeutické užití   MeSH
• lidé středního věku MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• systémová vaskulitida farmakoterapie   patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

Miller Fisher syndrome (MFS) is a localized variant of Guillain-Barre syndrome (GBS), characterized by ophthalmoplegia, areflexia, and ataxia. Recent neurophysiological studies have suggested that abnormal terminal axon dysfunction occurs in some cases of Miller Fisher syndrome and Guillain-Barrd syndrome. We present a rare case report of recurrent MFS with abnormal terminal axon dysfunction. To the best of our knowledge, this is the first case report of recurrent MFS with terminal axon dysfunction that persisted up to nine months after the initial presentation of the second attack with positive antiganglioside antibodies and full clinical recovery.

• MeSH
• autoprotilátky MeSH
• axony fyziologie   patologie   MeSH
• dospělí MeSH
• elektromyografie MeSH
• financování organizované MeSH
• gangliosidy imunologie   MeSH
• lidé MeSH
• Miller Fisherův syndrom imunologie   patofyziologie   patologie   MeSH
• nervové vedení MeSH
• recidiva MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH