Institute of Psychiatry and Neurology
Recent publications
The aim of the present study was to examine gender and age‐specific effects on subjective daytime sleepiness (as measured by the Epworth Sleepiness Scale), body weight and eating behaviour in patients with central disorders of hypersomnolence. Based on the European Narcolepsy Network database, we compared 1035 patients with narcolepsy type I and 505 patients with other central disorders of hypersomnolence (“narcoleptic borderland”), including narcolepsy type II ( N = 308) and idiopathic hypersomnia ( N = 174), using logistic regression and general linear models. In the entire study population, the Epworth Sleepiness Scale was higher in women ( N = 735, mean age = 30 years, mean Epworth Sleepiness Scale = 16.6 ± SD 3.9) than in men ( N = 805, mean age = 32 years, mean Epworth Sleepiness Scale = 15.8 ± SD 4.4). In women with narcolepsy type I ( N = 475), both Epworth Sleepiness Scale and body mass index increased in parallel with age. In women of the narcoleptic borderland ( N = 260), the Epworth Sleepiness Scale markedly peaked in their early 30s, while body mass index only started to rise at that age. This rise in body mass index following the Epworth Sleepiness Scale peak cannot be explained by sleepiness‐induced uncontrolled eating, as self‐reported uncontrolled eating was negatively associated with the Epworth Sleepiness Scale in this group. We propose that the narcoleptic borderland harbours a unique cluster of women in their fertile years with an unexplored aetiology requiring further investigation towards tailored interventions.
Background/Objectives: Physical rehabilitation based on neurofunctional exercises can have a positive impact on restoring functionality and enhancing the quality of life of these individuals. Therefore, the purpose of this study is to analyze the effects of rehabilitation, including neurofunctional exercises, on the functional status of stroke patients. Methods: The cohort study design included 102 male and female participants: 51 patients underwent physiotherapy rehabilitation including neurofunctional exercises (SG), while the other 51 did not follow a rehabilitation program based on neurofunctional exercises (CG). The participants were assessed twice: once during their stay in the early neurology department after the first stroke, and again six months later. The assessments were conducted using the Barthel Scale (BS), the Rankin Scale (RS), and the National Institutes of Health Stroke Scale (NIHSS). Results: Baseline comparisons revealed significantly greater BS (p = 0.001) in the CG compared to the SG. Conversely, the SG had a significantly higher NIHSS than the CG at baseline (p = 0.001), as well as higher RS (p < 0.001). Within the SG, there were significant increases in BS (p < 0.001), while no significant differences were found between baseline and post 6 months in RS (p = 0.537) and NIHSS (p = 0.475). Regarding the CG, significant increases were observed in BS (p = 0.005) and NIHSS (p < 0.001), while no significant differences were found in RS (p = 0.335). Conclusions: In conclusion, this study reveals that incorporating neurofunctional exercises does not appear to play a significant role in the patients’ progress. The controlled group, engaged in home-based activities, showed greater improvements in their condition.
This research aimed to explore the experience of emotional burden among peer support workers (PSWs) in mental health care in Poland. It also examined the issue of moral distress in relation to this professional group and identified institutional sources of support for the well-being of PSWs in the workplace. The data presented in the article are derived from fourteen qualitative in-depth individual interviews with PSWs employed in four mental health centres with different organisational structures. The narratives of PSWs revealed several experiences that could be considered to be moral distress. The inability to assist patients was found to be associated with both individual and institutional barriers. Furthermore, our findings suggest that organisations can implement a number of specific practices to ensure the wellbeing of PSWs, which dissemination would be beneficial to teams employing PSWs.
Self-stigma is a major barrier to personal and clinical recovery in people with mental illness. Although psychosocial interventions have been developed to reduce self-stigma, the exploration of group CBT-based interventions for hospitalised patients are less represented. The purpose of this trial is to investigate the effectiveness of a group CBT-based intervention aiming to reduce self-stigma and improve recovery-related outcomes such as self-esteem, stigma resistance and sense of coherence, which comes down to saying, “I am what I am”. A total of 104 patients admitted to the inpatient therapy were recruited to participate in a randomised controlled clinical trial, and 77 participants (46 in the intervention group and 31 in the control group) completed the trial. Constructs of interest were measured before and after the intervention. The results showed that the evaluated intervention was effective in improving sense of coherence and stigma resistance, compared to treatment as usual (TAU). The level of self-stigma significantly decreased in both the intervention and control groups, but no statistically significant difference was observed between the groups. The limitations of the study include: the lack of assessment of the sustainability of the effects of therapy (follow-up), the presence of intensive interventions of the ward’s programme and patients pre-qualified for the ward based on admission criteria. The intervention “I am what I am,” has proven to be effective, especially in increasing the level of personal resources needed to build clinical and personal recovery and to counteract the negative consequences of self-stigma.
Lysosomal storage diseases (LSDs) are caused by the deficient activity of a lysosomal hydrolase or the lack of a functional membrane protein, transporter, activator, or other protein. Lysosomal enzymes break down macromolecular compounds, which contribute to metabolic homeostasis. Stored, undegraded materials have multiple effects on cells that lead to the activation of autophagy and apoptosis, including the toxic effects of lyso-lipids, the disruption of intracellular Ca2+ ion homeostasis, the secondary storage of macromolecular compounds, the activation of signal transduction, apoptosis, inflammatory processes, deficiencies of intermediate compounds, and many other pathways. Clinical observations have shown that carriers of potentially pathogenic variants in LSD-associated genes and patients affected with some LSDs are at a higher risk of cancer, although the results of studies on the frequency of oncological diseases in LSD patients are controversial. Cancer is found in individuals affected with Gaucher disease, Fabry disease, Niemann-Pick type A and B diseases, alfa-mannosidosis, and sialidosis. Increased cancer prevalence has also been reported in carriers of a potentially pathogenic variant of an LSD gene, namely CLN3, SGSH, GUSB, NEU1, and, to a lesser extent, in other genes. In this review, LSDs in which oncological events can be observed are described.
Toxic milk (txJ) is an autosomal recessive mutation in the Atp7b gene in the C3H/HeJ strain, observed at The Jackson Laboratory in Maine, USA. TxJ mice exhibit symptoms similar to those of human Wilson’s disease (WD). The study aimed to verify organ involvement in a mouse model of WD. TxJ mice and control animals were sacrificed at 2, 4, 8, and 14 months of age. Total X-ray Fluorescence Spectroscopy (TXRF) was used to determine the elemental concentration in organs. Tissue chemical composition was measured by Fourier Transform Infrared Spectroscopy (FTIR). Additionally, hybrid mapping of FTIR and microXRF was performed. Elevated concentrations of Cu were observed in the liver, striatum, eye, heart, and duodenum of txJ mice across age groups. In the striatum of the oldest txJ mice, there was lower lipid content and a higher fraction of saturated fats. The secondary structure of striatum proteins was disturbed in txJ mice. In the livers of txJ mice, higher concentrations of saturated fats and disturbances in the secondary structure of proteins were observed. The concentration of neurofilaments was significantly higher in txJ serum. The distribution of Cu deposits in brains was uniform with no prevalence in any anatomic structure in either group, but significant protein structure changes were observed exclusively in the striatum of txJ. In this txJ animal model of WD, pathologic copper accumulation occurs in the duodenum, heart, and eye tissues. Increased copper concentration in the liver and brain results in increased saturated fat content and disturbances in secondary protein structure, leading to hepatic injury and neurodegeneration.
Background and purpose: Cold beverage intake (carbonated drinks, fruit juice/drinks, and water) may be important population-level exposures relevant to stroke risk and prevention. We sought to explore the association between intake of these beverages and stroke. Methods: INTERSTROKE is an international matched case-control study of first stroke. Participants reported beverage intake using food frequency questionnaires or were asked "How many cups do you drink each day of water?" Multivariable conditional logistic regression estimated odds ratios (OR) and 95% confidence intervals (CI) for associations with stroke. Results: We include 13,462 cases and 13,488 controls; mean age was 61.7±13.4 years and 59.6% (n=16,010) were male. After multivariable adjustment, carbonated beverages were linearly associated with ischemic stroke (OR 2.39 [95% CI 1.64-3.49]); only consumption once/day was associated with intracerebral hemorrhage (ICH) (OR 1.58 [95% CI 1.23-2.03]). There was no association between fruit juice/drinks and ischemic stroke, but increased odds of ICH for once/day (OR 1.37 [95% CI 1.08-1.75)] or twice/day (OR 3.18 [95% CI 1.69-5.97]). High water intake (>7 cups/day) was associated ischemic stroke (OR 0.82 [95% CI 0.68-0.99]) but not ICH. Associations differed by Eugeographical region-increased odds for carbonated beverages in some regions only; opposing directions of association of fruit juices/drinks with stroke in selected regions. Conclusion: Carbonated beverages were associated with increased odds of ischemic stroke and ICH, fruit juice/drinks were associated with increased odds of ICH, and high water consumption was associated with reduced odds of ischemic stroke, with important regional differences. Our findings suggest optimizing water intake, minimizing fruit juice/drinks, and avoiding carbonated beverages.
Background The onset and progression of Huntington’s Disease (HD) can be influenced by variations in genetics, but also by a variety of environmental factors. There is evidence to suggest that aspects of lifestyle (physical activity, sleep and nutrition) may have a role to play in disease progression. Aims To assess the feasibility of conducting a 12-month linked study of lifestyle and clinical outcomes in people with HD. Methods Enroll-HD participants were recruited into a 12-month observational study within ± 8 weeks of their annual Enroll-HD assessment. At baseline, participants completed questionnaires relating to physical activity, nutrition and sleep. Each participant received a Fitbit Charge 4 which they were required to wear for the duration of the study and upload data via data synchronisation with their smartphone. Clinical outcomes were collected at baseline and 12 months at annual Enroll-HD visits and were obtained via a specific data request. Data were analysed descriptively in relation to pre-specified feasibility outcomes. Results We recruited 82 participants who provided a complete baseline dataset for analysis, with 75 participants providing follow-up data at 12 months. Retention, physical activity, sleep and nutrition data completion, and linkage to Enroll-HD data met pre-specified feasibility thresholds. It was not feasible to link genetic data to Enroll-HD data. Conclusions We have demonstrated that it is possible to conduct a longitudinal study of lifestyle in people with HD and established methods for assimilating digital sensor and specific outcome data alongside clinical measures captured via Enroll-HD.
Background Reduced sleep quality and physical activity (PA) are features of Huntington’s Disease (HD).1 2 Wearable devices offer a method to monitor these potentially modifiable features, and to track disease progression or treatment response. Aim: To examine sleep and PA over time using wearable devices in HD. Methods Participants wore a Fitbit Charge 43 4 during a 12-month observational study. Clinical measures at baseline and 12-months included the Unified HD Rating Scale total motor score (UHDRS-TMS) and composite UHDRS (cUHDRS). Daily/nightly Fitbit metrics included total sleep time, percentage rapid eye movement (%REM) and deep (%Deep) sleep, REM latency, awakenings, step count and mean heart rate. Baseline and follow-up were defined as the initial and final four weeks. Data were analysed for 64 participants at baseline (32 male; pre-manifest/manifest=15/49; age=51.5±12.4 years; TMS=26.5±19.5; cUHDRS=10.3±4.9), and 55 participants at follow-up (29 male; pre-manifest/manifest=12/43). For each feature, correlations with cUHDRS and UHDRS-TMS were examined at baseline, and the effect of time was examined using paired t-tests. Results Significant moderate correlations were observed between cUHDRS and%REM (R=0.26) and REM Latency (R=-0.29), and between UHDRS-TMS and awakenings (R=-0.26). No significant differences in UHDRS-TMS, cUHDRS, or any sleep metric were observed between baseline and follow-up (289.2±74.4 days), however daily step count decreased (p<0.001). Conclusions Longitudinal monitoring using a wrist-worn wearable revealed reduced physical activity, with no change in sleep or clinical scores. Sleep features estimated using Fitbit at home were correlated with clinical scores. Longer monitoring periods may reveal new digital biomarkers to monitor clinical progression in HD. References • Herzog-Krzywoszanska, Krzywoszanski. Frontiers in Psychiatry 2019. • McLaren, et al. Neuropsychology 2021. • Doheny, et al. J. Clinical Sleep Medicine 2024. • Lozano-Garcia, et al. IEEE Transactions Neural Systems Rehab Eng, 2024.
Background Motor disorder in jHD and other severe hyperkinetic diseases patients, characterize with domination of dystonia, bradykinesia and rigidity over the unvoluntary movements. Therefore, the symptomatic treatment presents a huge challenge, as antichoreic medications may worsen the clinical status increasing the rigidity, and - contrary: antiparkinsonic drugs negatively impact the cognition and psychiatric symptoms. Dystonia and rigidity influence the everyday care, impeding bathing, feeding and rehabilitation. In the below case series, we describe botulinum toxin treatment in relieving symptoms in 4 jHD patients and in patient with advanced neuroakanthocytosis. Methods 4 patients with jHD from Institute of Psychiatry and Neurology Enroll-HD database (UHDRS TMS score: WM 65, MS 71, WZ 58, SP 63) after legal representatives agreement undergone botulinum toxin A treatment of the following muscles was based on dystonia pattern and rigidity distribution: WM-600u: upper and lower limbs dystonia, MS-900u: blepharospasm, jaw-closing dystonia, upper and lower limbs dystonia, WZ-1500u: jaw-closing dystonia, upper and lower limbs, SP-1500u: upper and lower limbs and also parotid glands. Moreover, we applied the toxin also to muscles involved in jaw-opening, cervical and upper limb dystonia (1000u) of patient with neuroacanthocytosis (AW-1000u). All patients were followed up 4 weeks after the application. We assessed the UHDRS TMS score and Caregiver QL before and 4 weeks after the treatment. Results According to caregivers, in all patients the treatment mildly improved everyday activities: feeding, bathing, wearing, transferring from wheelchair to bed and assisted motion, which was reflected both in improvement in careQL questionnaire scoring (mean Δ+7 pts) and reduction in patient’s TMS dystonia subscores (Respectively: WM Δ-2, MS Δ-3, WZ Δ-3, SP Δ-3, AW Δ-4 pts). Conclusions Selective application of botulinum toxin may improve the physical performance of severely affected jHD subjects. This makes basic activities easier and reflects in an improvement of quality of life of both patients and caregivers. Every patient before the treatment needs to be evaluated to establish the individual scheme of the treatment based on dystonia and rigidity distribution.
Background: An appropriate diet is the basis for the treatment of type 2 diabetes (T2DM). However, there are no strict recommendations regarding the content of micronutrients and their modifications in the presence of chronic kidney disease (CKD). Therefore, we decided to investigate whether T2DM patients, including those with CKD, have different levels of chromium, nickel, cobalt, magnesium, and zinc in various blood elements compared to healthy individuals. Methods: We divided our subjects into three groups: the control group (individuals without T2DM and proper renal function), those with T2DM and proper renal function, and those with T2DM and GFR < 60 mL/min/1.73 m². Results: We observed higher levels of chromium in all materials examined in patients with T2DM and impaired renal function. Both study groups found higher levels of nickel in samples of whole blood and red blood cells. Patients with T2DM and proper renal function had higher levels of serum manganese. Both study groups had lower levels of serum zinc. We observed higher levels of chromium in all materials examined in patients with T2DM and impaired renal function. Both study groups found higher levels of nickel in samples of whole blood and red blood cells. Patients with T2DM and proper renal function had higher levels of serum manganese. Both study groups had lower levels of serum zinc. Conclusions: In order to ensure effective care for patients with T2DM, it is necessary to improve the standard diet, including the content of micronutrients and their modification in patients with concomitant CKD.
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS). There is a scarcity of literature concerning the process of growth in children with Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharidosis type I (MPS II) after HSCT. The aim of this manuscript was to evaluate the therapeutic effect of HSCT on the heights of patients with MPS I and MPS II. Material and methods: It was an observational, single-center study on patients with MPS I and II treated with HSCT. Results: 6 MPS patients, including 4 MPS I and 2 MPS II, underwent HSCT at a median age of 2 years. All patients are alive to date, with a median age of 7.7 years (range 5.5–12 years) at the last follow-up. In both (MPS I and MPS II) groups of patients treated with HSCT, the growth rate was higher than in untreated patients and was found to be in line with the population norm. In both MPS I and MPS II patients who were treated with HSCT, normalization of urinary GAG excretion was observed. Additionally, no bands of DS and HS in GAG electrophoresis were visible. Conclusions: Both MPS I and MPS II patients presented height gain after HSCT compared to the curves of untreated patients. The absence of dermatan sulphate after HSCT could lead to normal growth in bone length.
Background Individuals experiencing violence often complain about physical and mental health problems and make more frequent use of healthcare services. Therefore, healthcare workers play a crucial role both in recognizing violence and in treating its effects. The aim of this article is to identify barriers in recognizing domestic violence by healthcare workers—primary care physicians, specialists, and addiction therapists. Methods The study was qualitative; semi-structured interviews with a list of sought information were conducted. The research (N = 60) was carried out among primary care physicians employed in Primary Health Care facilities (N = 20), specialists in psychiatry, gynecology, emergency department workers (N = 20), and Addiction Therapy Specialists (N = 20). The selection of participants for the study was purposive. Results The barriers to recognizing domestic violence identified in our study can be classified into three dimensions: related to the organization of healthcare, the workers employed in the system and their readiness to recognize the phenomenon, and those related to the victims of violence. Among the barriers related to the organization of healthcare, we highlighted the short visit time, extensive bureaucracy, waiting queue, lack of continuity of care, and poor communication between different institutions, lack of screening tests, local conditions preventing the assurance of privacy, lack of support from superiors for doctors and therapists who feel left alone if they identify violence. Among the barriers on the side of professionals, we identified a lack of readiness and competencies to identify the phenomenon of violence. Doctors are not sensitive to signals indicating violence, ignore and trivialize this phenomenon, and believe that its identification is beyond their competencies. Workers fear for their safety. It happens that their personal beliefs also hinder them from identifying the phenomenon. Among the barriers that can be linked to individuals experiencing violence, we identified fear of stigmatization, shame, fear of inadequate reaction from healthcare workers, fear of retaliation, further exploitation and "taking away" children, loss of home and social status, normalization of violence, rationalization of the perpetrator's behaviors and belief in the ubiquity of the phenomenon, lack of knowledge about different types of violence, personal acquaintances in the local community, and a lack of trust in specialists. Conclusions Some of the barriers on the side of professionals stem from the functioning of the healthcare system, e.g., lack of competence in recognizing the phenomenon, reluctance to take responsibility for its identification. Introducing changes in the system can reduce the occurrence of barriers on the side of professionals. Barriers on the side of individuals experiencing violence seem harder to overcome. Some of these barriers could be overcome through various types of preventive actions at the universal level.
The COVID-19 pandemic had a significant impact on people's psychological functioning, altering emotional lives by increasing anxiety and lowering mood. The purpose of the present study was to analyze the impact of COVID-19 infection on anxiety and mood, and to examine the role of gender and the significance of the number of infections. The study was based on a questionnaire and involved 210 participants (n = 101 who contracted COVID-19 and n = 109 who never experienced the disease). The Anxiety and Depression Scale (HADS), a tool with good psychometric properties, was used for assessment. Gender differences were observed in levels of anxiety and depression. Men reported higher levels of anxiety and depression compared to women. Interestingly, those who had not experienced COVID-19 reported higher levels of depression. The study indicated a moderating role of gender in the relationship between anxiety, depression, and the number of infections. Experiencing an infection may reduce tension and possibly increase feelings of better coping and greater self-confidence, which is particularly significant for men, given the persistence of stereotypical attitudes towards male and female roles in society. The individual experience of COVID-19 infection, coupled with the unpredictability of the body’s response, may foster a sense of uncertainty, exacerbating negative emotions. However, participants who had contracted the disease learned to cope with it and developed some immunity, which might explain the observed differences. This conclusion is important in the context of potential subsequent waves of the epidemic.
Aging-related biochemical changes in nerve cells lead to dysfunctional synapses and disrupted neuronal circuits, ultimately affecting vital processes such as brain plasticity, learning, and memory. The imbalance between excitation and inhibition in synaptic function during aging contributes to cognitive impairment, emphasizing the importance of compensatory mechanisms. Fear conditioning-related plasticity of the somatosensory barrel cortex, relying on the proper functioning and extensive up regulation of the GABAergic system, in particular interneurons containing somatostatin, is compromised in aging (one-year-old) mice. The present research explores two potential interventions, taurine supplementation, and environmental enrichment, revealing their effectiveness in supporting learning-induced plasticity in the aging mouse brain. They do not act through a mechanism normalizing the Glutamate/GABA balance that is disrupted in aging. Still, they allow for increased somatostatin levels, an effect observed in young animals after learning. These findings highlight the potential of lifestyle interventions and diet supplementation to mitigate age-related cognitive decline by promoting experience-dependent plasticity.
Clear cell meningioma (CCM) is a rare subtype of meningioma, especially unusual as a neoplasm of the filum terminale. Clear cell meningioma seems to have a more aggressive nature and a higher risk of recurrence than WHO grade I meningiomas. A 44-year-old woman presented with lower back pain radiating to the left leg and mild weakness in the left leg. Magnetic resonance imaging (MRI) showed a well-demarcated, intradural lesion filling the spinal canal at the L3-S1 levels and compressing the cauda equina. The patient underwent laminectomy from L3 to S1. During the operation, the filum terminale was identified as a structure that was disappearing into the tumor. The filum terminale was cut and the tumor was totally removed in one piece. Pathological findings were indicative of the diagnosis of clear cell meningioma, CNS WHO G2. Postoperative magnetic resonance imaging at 6 months showed no residual mass. Total surgical excision of the CCM of the spinal cord should be chosen as the optimal treatment. In addition, radiological follow-up is equally important due to the high risk of recurrence. Our case is unusual in that the tumor's location was the filum terminale.
Institution pages aggregate content on ResearchGate related to an institution. The members listed on this page have self-identified as being affiliated with this institution. Publications listed on this page were identified by our algorithms as relating to this institution. This page was not created or approved by the institution. If you represent an institution and have questions about these pages or wish to report inaccurate content, you can contact us here.
224 members
Lukasz Wieczorek
  • Department of Studies on Alcoholism and Drug Dependence
Tomasz Litwin
  • Second Department of Neurology
Jan Bembenek
  • Department of Clinical Neurophysiology
Tadeusz Mendel
  • Second Department of Neurology
Information
Address
Warsaw, Poland