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Background. Psoriasis is linked to atherosclerosis. Homocysteine (HCYS) has been identified as a marker of increased risk of cardio-cerebrovascular diseases (CCVD) in population. Objective. The aim of the study was to determine whether elevated HCYS serves as a marker of increased CCVD in psoriasis and whether biological therapy for long-term monitoring influences HCYS levels. Methods. Clinical data, laboratory tests, and comorbid diagnoses were summarized for the two groups of patients based on entrance HCYS levels. Patients (n = 76) were included in the follow-up gradually over a period of 5 years. Results. The psoriatic patients with normal (54%) and elevated (46%) HCYS before biological treatment did not vary in clinical data, laboratory tests, treatment, and comorbid diagnoses apart from CCVD. Elevated HCYS group showed a four-fold excess of CCVD (OR 4.2, 95%CI 1.21–4.86, p=0.024). HCYS levels in the longitudinal observation did not vary. Conclusion. An increased CCVD risk, independent of other risk factors, is present in psoriatic patients with elevated HCYS. The HCYS level was not influenced by biological therapy in longitudinal observation. Further studies are needed to explore if elevated HCYS could serve as a marker of increased CCVD in any stage of psoriasis and if it should be included in classical screening strategies.

Nearly 80% of people diagnosed with idiopathic REM sleep behaviour disorder (iRBD) via video-polysomnography (v-PSG) are expected to be in the prodromal stage of an alpha-synucleinopathy. Signs of autonomic dysfunction can appear earlier than motor or cognitive alpha-synucleinopathy symptoms. Heart Rate Variability (HRV) can potentially be an objective measurement of autonomic dysfunction, and furthermore can be obtained directly from v-PSG. The aim of this study was to evaluate dysautonomia in iRBD subjects using HRV obtained during different sleep stages and wakefulness from v-PSG. Subjects positively screened by an RBD screening questionnaire (RBD-SQ) underwent v-PSG to diagnose RBD. HRV obtained from v-PSG recordings was correlated to dysautonomia evaluated from a Non-Motor Symptoms Scale (NMSS) questionnaire. Optimal cut-off values of HRV parameters to predict dysautonomia were calculated using receiver operating characteristics (ROC) - area under the curve (AUC) analysis. The effect of confounder variables was predicted with binomial logistic regression and multiple regression analyses. Out of 72 positively screened subjects, 29 subjects were diagnosed as iRBD (mean age 66 ± 7.7 years) by v-PSG. Eighty-three per cent of the iRBD subjects in our cohort were at the time of diagnosis classified as having possible or probable prodromal Parkinson's Disease (pPD) compared to zero subjects being positively screened in the control group. The iRBD-positive subjects showed significant inverse correlations of NMSS score, particularly to log low-frequency (LF) component of HRV during wakefulness: r = -0.59 (p = 0.001). Based on ROC analysis and correlation between NMSS score, log LF during wakefulness (AUC 0.74, cut-off 4.69, sensitivity 91.7%, specificity 64.7%, p = 0.028) was considered as the most accurate predictor of dysautonomia in the iRBD group. Apnoea-hypopnoea index (AHI) negatively predicted dysautonomia in the iRBD group. None of the HRV components was able to predict the presence of iRBD in the full cohort. Age, gender, and PSG variables were significant confounders of HRV prediction. The presented study did not confirm the possibility of using HRV from v-PSG records of patients with iRBD to predict dysautonomia expressed by questionnaire methods. This is probably due to several confounding factors capable of influencing HRV in such a cohort.

Narcolepsy type 1 (NT1), a central disorder of hypersomnolence, is associated with mood, anxiety or hyperactivity mental disorders. Association with psychotic episode or schizophrenia is rare and could be the source of diagnostic and therapeutic difficulties. Their frequency in the national narcolepsy database has not been systematically studied. The aim of the presented study was to calculate the frequency of NT1 patients diagnosed with psychosis and/or schizophrenia, to identify clinical characteristics of these cases, and to look for narcoleptic and psychotic symptoms during re-evaluation years later. We identified three (4%) cases diagnosed with a psychotic episode in the course of NT1. They were diagnosed with NT1 by age ≤18 years. In the re-evaluation (mean follow-up 9.8 years), we identified one case with a dual diagnosis of NT1 and schizophrenia; two cases were diagnosed with a solitary psychotic episode in the course of NT1. NT1 patients diagnosed in the age ≤18 years are at higher risk of psychotic episode, and this may be related to higher vulnerability during the ongoing neurodevelopmental period. Comorbid schizophrenia with NT1 in the Slovakian Narcolepsy Database was within the prevalence expected in the general population. The solitary psychotic episode in the course of NT1 did not reduce the possibility of subsequent symptomatic treatment afterwards.

Narcolepsy is a rare life-long disease that exists in two forms, narcolepsy type-1 (NT1) or type-2 (NT2), but only NT1 is accepted as clearly defined entity. Both types of narcolepsies belong to the group of central hypersomnias (CH), a spectrum of poorly defined diseases with excessive daytime sleepiness as a core feature. Due to the considerable overlap of symptoms and the rarity of the diseases, it is difficult to identify distinct phenotypes of CH. Machine learning (ML) can help to identify phenotypes as it learns to recognize clinical features invisible for humans. Here we apply ML to data from the huge European Narcolepsy Network (EU-NN) that contains hundreds of mixed features of narcolepsy making it difficult to analyze with classical statistics. Stochastic gradient boosting, a supervised learning model with built-in feature selection, results in high performances in testing set. While cataplexy features are recognized as the most influential predictors, machine find additional features, e.g. mean rapid-eye-movement sleep latency of multiple sleep latency test contributes to classify NT1 and NT2 as confirmed by classical statistical analysis. Our results suggest ML can identify features of CH on machine scale from complex databases, thus providing ‘ideas’ and promising candidates for future diagnostic classifications.

Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990-2018) and the factors associated with the delay in Europe. We analyzed 580 NT1 patients (male: 325, female: 255) from 12 European countries using the European Narcolepsy Network database. We combined machine learning and linear mixed-effect regression to identify factors associated with the delay. The mean age at EDS onset and diagnosis of our patients was 20.9±11.8 (mean ± standard deviation) and 30.5±14.9 years old, respectively. Their mean and median diagnostic delay was 9.7±11.5 and 5.3 (interquartile range: 1.7-13.2 years) years, respectively. We did not find significant differences in the diagnostic delay over years in either the whole dataset or in individual countries, although the delay showed significant differences in various countries. The number of patients with short (≤2-year) and long (≥13-year) diagnostic delay equally increased over decades, suggesting that subgroups of NT1 patients with variable disease progression may co-exist. Younger age at cataplexy onset, longer interval between EDS and cataplexy onsets, lower cataplexy frequency, shorter duration of irresistible daytime sleep, lower daytime REM sleep propensity, and being female are associated with longer diagnostic delay. Our findings contrast the results of previous studies reporting shorter delay over time which is confounded by calendar year, because they characterized the changes in diagnostic delay over the symptom onset year. Our study indicates that new strategies such as increasing media attention/awareness and developing new biomarkers are needed to better detect EDS, cataplexy, and changes of nocturnal sleep in narcolepsy, in order to shorten the diagnostic interval.

The aim of the presented cross-sectional seroepidemiological study was to determine the current presence of antibodies against B. burgdorferi s.l. in the groups of Slovak population, and to identify potential risk factors to Lyme borreliosis. A group of 261 adults (patients from the Neurological Clinic with possible symptoms of LB and healthy persons with possible working exposure to tick bite: gardeners and soldiers working in afforested areas) were examined in order to assess the seroprevalence of anti-Borrelia antibodies. Sera were screened by commercial enzyme-linked immunosorbent assay (ELISA). The respondents completed questionnaires with general demographic, epidemiological and clinical data. We detected 17.2% presence of positive IgG and 5.7% presence of positive IgM antibodies in all investigated groups. Our results confirmed that the following risk factors such as age and gender are significantly associated with the presence of positive specific antibodies against investigated disease. The results of seroprevalence obtained in the present study confirm the possibility of infection with B. burgdorferi among respondents exposed to contact with ticks.

Abstract Increased incidence rates of narcolepsy type-1 (NT1) have been reported worldwide after the 2009–2010 H1N1 influenza pandemic (pH1N1). While some European countries found an association between the NT1 incidence increase and the H1N1 vaccination Pandemrix, reports from Asian countries suggested the H1N1 virus itself to be linked to the increased NT1 incidence. Using robust data-driven modeling approaches, that is, locally estimated scatterplot smoothing methods, we analyzed the number of de novo NT1 cases (n = 508) in the last two decades using the European Narcolepsy Network database. We confirmed the peak of NT1 incidence in 2010, that is, 2.54-fold (95% confidence interval [CI]: [2.11, 3.19]) increase in NT1 onset following 2009–2010 pH1N1. This peak in 2010 was found in both childhood NT1 (2.75-fold increase, 95% CI: [1.95, 4.69]) and adulthood NT1 (2.43-fold increase, 95% CI: [2.05, 2.97]). In addition, we identified a new peak in 2013 that is age-specific for children/adolescents (i.e. 2.09-fold increase, 95% CI: [1.52, 3.32]). Most of these children/adolescents were HLA DQB1*06:02 positive and showed a subacute disease onset consistent with an immune-mediated type of narcolepsy. The new 2013 incidence peak is likely not related to Pandemrix as it was not used after 2010. Our results suggest that the increased NT1 incidence after 2009–2010 pH1N1 is not unique and our study provides an opportunity to develop new hypotheses, for example, considering other (influenza) viruses or epidemiological events to further investigate the pathophysiology of immune-mediated narcolepsy.

An extraordinary incidence of genetic Creutzfeldt-Jakob disease (gCJD) appearing in clusters in the Slovak Republic was described in the 1990's. The aim of the study was to analyse data of CJD cases obtained from surveillance in Eastern Slovakia (ES) (2004-2016), the region outside the described geographical clusters. The database set in the project was the source for epidemiological and clinical analysis of CJD cases. The incidence of CJD in ES (2004-2016) was 1.7/million person-years (95% CI 1-2.4); the incidence increase in the last five years (2012-2016) was comparable to the whole country. Twenty seven of 29 reported CJD cases were available for analysis (mean age 59 years, F/M 15/12). The proportion of gCJD (E200K mutation) cases remained dominant (78%), with 9 familiar cases originating in 4 families. Analysis of the clinical features revealed shorter duration of the symptomatic phase in sporadic CJD (sCJD) (3.4 months) versus gCJD (5.15 months). Cognitive/behavioural changes, insomnia, and sensory disturbance were more pronounced in the early symptoms of gCJD. Periodic EEG discharges were more frequent in sCJD (83%) than gCJD (56%), all 19 available MR findings were CJD specific and localisation of abnormalities varied amongst the CJD forms. The surveillance of CJD in ES (2004-2016) showed an increased incidence of CJD in ES, reaching the incidence rate of the whole country, with a permanent proportion of 70% gCJD cases based on the E200K mutation. Clinical, electrophysiological and MR features of sCJD and gCJD cases were in conformity with already published data. Epidemiological analysis of CJD in ES shows increasing detection of CJD but also suggests that current routine surveillance systems for CJD may underestimate the true burden of disease, especially sporadic cases in Slovakia.

The aim of this seroepidemiological study was to determine the current prevalence of antibodies against tick-borne encephalitis virus (TBEV) in the representative group of Slovak population with included potential risk factors for TBEV. Representative group consisted of 428 persons (also with possible exposure to risk factors for tick bite or raw milk consumption). Serum samples were screened by commercial enzyme-linked immunosorbent assay (ELISA). The persons involved in the study completed questionnaires with general demographic, epidemiological and clinical data. During the analysis, we used linear regression to interpret the influence between selected variables. We detected 1.2% prevalence of positive IgG and 1.6% prevalence of positive IgM antibodies in all tested groups. Our results also confirmed that the following risk factors such as tourism, hunting, fishing, and consumption of raw milk are significantly associated with the prevalence of specific antibodies against TBEV. The results of seroprevalence obtained by this study confirm the possibility of infection with TBEV among respondents exposed to possible contact with ticks.

Lyme disease (LD) is chronic, multi-system zoonosis transmitted by ticks, and LD aetiological agents are spirochetes of the Borrelia burgdorferi sensu lato complex. The aim of the cross-sectional study was to analyze the LD incidence on the basis of the presence of specific antibodies in the serum of patients in Eastern Slovakia, and to compare the results of serological ELISA and immunoblot assays. Venous blood with questionnaires was obtained by field sampling of respondents from Eastern Slovakia. Overall, we examined 537 human sera by the ELISA and for confirmation we tested all positive IgG antibodies against the Borrelia immunoblot assay. Our results confirmed the high serum prevalence of anti-Borrelia antibodies (17.9% for IgG), while the immunoblot seropositive test was confirmed in 69.8% of responders from ELISA IgG positive sera. Positive antibodies of the IgM class were found in 7.6% of the population under study. Most commonly found were antibodies against VlsE (80.2%), p41 (66.7%), p18 (56.3%), p100 (41.7%), p58 (31.3%), and p39 (30.2%). It should be noted that detection of antibodies against B. burgdorferi s.l. is only an indirect evidence of the presence of this bacterium in the development of clinical signs of LD in humans. Laboratory LD tests should be performed in accordance with valid standards, positive and uncertain results must be confirmed by the Western Blot/Immunoblot assay.