Institute of Psychiatry and Neurology
Recent publications
Suicide is an important social and medical problem, particularly among children and adolescents. The aim of the study was to determine the association of the psychiatric diagnosis and selected psychosocial factors with the risk of suicide attempts among patients of an adolescent psychiatric unit. A retrospective analysis was performed on a database of consecutive N = 1311 patients aged 13–18 years of the adolescent psychiatric ward. A hierarchical logistic regression analysis was performed to assess the predictive value of the main psychiatric diagnosis, for factors selected from the database to determine their influence on the relative risk of a suicide attempt. Primary diagnoses of mood disorders and emotional and behavioral disorders were associated with an increased risk of a current admission after a suicidal attempt, a history of past suicidal attempts and non-suicidal self-harm (NSSI). History of NSSI was associated with a fourfold increase probability of a suicide attempt. Truancy, sexual abuse, heartbreak and frequent conflicts were related to a rise in suicidal attempt risk. Learning difficulties were found to be linked to increased probability of suicidal attempt, but only among women. The current study confirms that the primary diagnosis, NSSI and well-recognized psychosocial factors (including family- and school-related factors) may prove useful in the assessment of suicidal risk among adolescents admitted to a psychiatric ward.
IntroductionThe first wave of the COVID-19 pandemic in Poland in the spring of 2020 forced psychologists to fight the psychological consequences, which were triggered by drastic life changes among the entire population. This group of professionals had an incredibly difficult role to play in society, the level of their overload in studies was even compared to doctors treating COVID-19. This paper aims to analyze the situation of both personal and professional psychologists in the first wave of the pandemic.Materials and methodDuring the study, 341 psychologists were surveyed using the snowball method (hybrid access). Data was collected between 12 March and 3 May 2020. The study is part of a large project from all waves of the pandemic.Results82.7% of psychologists experienced moderate to high-intensity stress, and 61.29% switched to a remote or hybrid mode of working with patients. Subjectively depressed mood occurred in 16.13%, reduced drive in 27.57%, and dyssomnia in 18.77%. 61.58% had concerns about their professional and/or financial future after the pandemic.The challenges during, as well as after, the pandemic period requires taking care of individual mental well-being from psychologists. This is a necessary condition for undertaking a committed job.
Background Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2 , which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primarily in motor-related brain areas. Symptoms include dystonia, parkinsonism, and other disabilities. PKAN has been categorized as classic PKAN, with an age of onset ≤ 10 years, rapid progression, and early disability or death; and atypical PKAN, with later onset, slower progression, generally milder, and more diverse symptom manifestations. Available treatments are mostly palliative. Information on the lived experience of patients with PKAN and their caregivers or on community-level disease burden is limited. It is necessary to engage patients as partners to expand our understanding and improve clinical outcomes. This patient-oriented research study used multiple-choice and free-form question surveys distributed by patient organizations to collect information on the manifestations and disease burden of PKAN. It also assessed respondents’ experiences and preferences with clinical research to inform future clinical trials. Results The analysis included 166 surveys. Most respondents (87%) were parents of a patient with PKAN and 7% were patients, with 80% from Europe and North America. The study cohort included 85 patients with classic PKAN (mean ± SD age of onset 4.4 ± 2.79 years), 65 with atypical PKAN (13.8 ± 4.79 years), and 16 identified as “not sure”. Respondents reported gait disturbances and dystonia most often in both groups, with 44% unable to walk. The classic PKAN group reported more speech, swallowing, and visual difficulties and more severe motor problems than the atypical PKAN group. Dystonia and speech/swallowing difficulties were reported as the most challenging symptoms. Most respondents reported using multiple medications, primarily anticonvulsants and antiparkinsonian drugs, and about half had participated in a clinical research study. Study participants reported the most difficulties with the physical exertion associated with imaging assessments and travel to assessment sites. Conclusions The survey results support the dichotomy between classic and atypical PKAN that extends beyond the age of onset. Inclusion of patients as clinical research partners shows promise as a pathway to improving clinical trials and providing more efficacious PKAN therapies.
Introduction and aim: International and national studies indicate that analgesic use is common among adolescents. Research projects on this issue in Poland to date have been conducted among youth attending mainstream schools. However, data on the analgesic use among adolescents attending special education institutions, i.e. youth sociotherapy centres (młodzieżowe ośrodki socjoterapii, MOS) and youth correctional centres (młodzieżowe ośrodki wychowawcze, MOW) is missing. The aim of this study was to assess the prevalence of analgesic use among youth attending special education centres. Materials and methods: The study was conducted in 2018 among youth aged 12–19 years from randomly selected MOS/MOW facilities in Poland (N = 1,730). Data was collected with a self-administered questionnaire. A chi-square test was used to assess differences in analgesic consumption rate by gender and facility type. Results: Approximately 60% and 44.5% of study participants used analgesics for headache and stomach-ache, respectively, at least 1–2 times in the past month. Girls are significantly more likely than boys to use medications for headache and stomach-ache. The analgesic consumption rate among MOS/MOW youth is higher than among adolescents attending mainstream schools. Conclusions: Due to the risk associated with medicine use preventive measures addressing youth should include activities aimed at improving knowledge and skills regarding safe medication use. A history of analgesic use by an adolescent should be part of a family doctor’s routine interview.
Background: A set of evidence-based alcohol control policy measures was adopted in the period 2016-2020 in Lithuania. The present study fills a knowledge gap on how changes in alcohol control policy are associated with attitudes toward different alcohol policy measures.Objective: This study aims to explore whether support for key alcohol control policy measures in Lithuania declined following implementation of alcohol control measures.Methods: Data came from the Standard European Alcohol Survey. Two representative surveys with the same questionnaire, were conducted in Lithuania in 2015 (N = 1513, 51.7% female, response rate was 38.9%) and 2020 (N = 1015, 50.6% female, response rate was 38.0%). Multi-stage stratified probability sampling was applied. Surveys were carried out using computer-assisted face-to-face interviews, descriptive statistics and multiple logistic regression analyses was applied. We used a binomial logistic regression analysis and the Pearson chi-square test.Results: There was a significant decline in a proportion of respondents who agreed that the number of alcohol selling places should be kept low (OR: 0.84, p = .032), alcohol prices should be kept high (OR: 0.83, p = .027), and the police should be allowed to randomly check whether the driver is sober (OR: 0.65, p < .001). The proportion of respondents who agree that individuals are responsible enough with their drinking significantly declined (OR: 0.76, p = .003).Conclusion: Support for restrictions on alcohol-selling points, increase in alcohol price, and random alcohol testing of drivers declined following the adoption of new alcohol control policy measures. Our findings might be beneficial for policy-makers planning alcohol control policies and information campaigns.
Wilson’s disease (WD) is a genetic disorder with copper accumulation in various tissues leading to related clinical symptoms (mainly hepatic and neuropsychiatric) which can be in 85% of patients successfully treated with anti-copper agents. However, during WD treatment neurological deterioration may occur in several patients. D-penicillamine (DPA) is one of the most frequently used drugs in WD treatment. Despite its efficacy, DPA can produce many adverse drug reactions, which should be recognized early. We present the case of a 51-year-old man diagnosed with the hepatic form of WD and initially treated with DPA in whom after 15 months of treatment, diplopia and evening ptosis occurred. WD treatment non-compliance as well as overtreatment were excluded. Supported by neurological symptoms, a positive edrophonium test, and high serum levels of antibodies against acetylcholine receptors (AChR-Abs), as well as low concentrations of antibodies against muscle-specific kinase (MuSK-Abs), the diagnosis of myasthenia gravis (MG), induced by DPA, was established. DPA was stopped; zinc sulfate for WD and pyridostigmine for MG symptoms were introduced. Diplopia and ptosis subsided after a few days, which supported our diagnosis. During a follow-up visit after 6 months, the patient did not present any MG symptoms. AChR-Abs level gradually decreased and MuSK-Abs were no longer detected. Pyridostigmine was stopped, and within 9 months of follow-up, the neurological symptoms of MG did not reoccur. The authors discussed the patient’s neurological deterioration, performed a systematic review of DPA-induced MG in WD and concluded that MG is a rare and usually reversible complication of DPA treatment. DPA-induced MG generally occurs 2–12 months after treatment initiation and ocular symptoms predominate. Response to pyridostigmine treatment is good and MG symptoms usually reverse within one year after DPA treatment cessation. However, symptoms may persist in some cases where DPA treatment is only a trigger factor for MG occurrence.
Introduction. Our study assessed changes in concentrations of serum markers for brain damage and blood-brain barrier (BBB) dysfunction in untreated and treated Wilson’s disease (WD) patients, and examined correlations between these changes and neurological impairment. Objective. These results hold the potential to determine BBB impairment and neurological advancement in WD to develop the most effective treatment for patients with severe neurological deterioration. Material and methods. The study groups included 171 patients with WD (77 with hepatic and 94 with neurological manifestations), treated either for up to 5 or 15 years, and 88 healthy controls. Serum concentrations of intercellular adhesion molecule 1(ICAM1), P-selectin, matrix metallopeptidase 9 (MMP9), glial fibrillary acidic protein (GFAP), and S100 calcium-binding protein B(S100B) were measured before and during anti-copper treatment. The Unified Wilson’s disease Rating Scale (UWDRS) was used to assess neurological advancement. Results. ICAM1 concentrations were elevated before and during anti-copper treatment compared to controls (p < 0.01), but therapy led to substantial decreases both in patients with hepatic (p < 0.01) and in patients with neurological manifestations (p <0.05). P-selectin concentrations remained elevated before and during treatment (p < 0.05) regardless of the treatment duration and disease form. MMP9 concentrations before treatment were lower (p < 0.05), but reached control levels during treatment. GFAP concentrations were significantly elevated only in untreated patients with neurological symptoms in the longer-treated group compared to controls (p < 0.05). A significant reduction during treatment was observed only in the shorter-treated neurological group (p < 0.05). No substantial changes were observed in S100B. Only ICAM1 concentrations positively correlated (r = 0.27, p < 0.001) with the UWDRS. Conclusions. Our results provide evidence of endothelial activation in WD. However, inconclusive GFAP results, and no increase in S100B, do not allow us to conclude whether the reactive gliosis is not prominent or alternatively whether the BBB is disrupted. Elevated ICAM1 concentrations and their correlation with neurological advancement indicate BBB impairment. A decrease in ICAM1 during treatment suggests that the inflammatory process is reduced, and the BBB partially repaired. Decreased MMP9 concentrations may be the result of active liver fibrosis and higher copper concentrations. Elevated P-selectin concentrations indicate a systemic inflammatory process.
Auditory hallucinations (AHs) are one of the central symptoms of schizophrenia spectrum disorders (SSD). Current cognitive models of AH implicate source monitoring, top-down processes, and inhibitory control. However, research combining these processes is limited. Our study aimed to examine how source monitoring bias, top-down processes, and inhibitory control contribute to AHs in individuals with SSD. Eighty seven patients(aged 18–45 years) with SSD were included in the analyses. Participants completed cognitive tasks assessing source monitoring (Action Memory Task), top-down processes (False Perception Task; FPT), and inhibitory control (Auditory Go/NoGo task). AH was positively associated with response bias on the FPT. Correlations between AH and the other cognitive tasks were nonsignificant. Source monitoring errors correlated positively with response bias measures and negatively with Hits on the FPT. PANSS total score was positively correlated with source monitoring bias and False Alarms on the Go/NoGo task. The severity of disorganized symptoms was related to Source Monitoring Errors and False Alarms in the Go/NoGo task. Negative symptoms were associated with Hits and False Alarms in the Go/NoGo task. Future studies are necessary to further elucidate the relationships between different cognitive processes that may be related to clinical symptoms of psychosis.
Introduction: Substantial research evidence indicates that adolescents commonly use a variety of pharmaceuticals. Studies in this area carried out so far in Poland have focused on youth attending mainstream schools. However, there is a lack of research covering adolescents residing in special education centres (SEC). The purpose of the study was to assess the prevalence of medicine use for negative emotional states (nervousness, difficulties in falling asleep, and depressive mood), and to identify factors associated with the use of the aforementioned medications by SEC youth. Materials and methods: The study was conducted in 2018 on a random nationwide sample of SEC adolescents aged 12-19 (N = 1730). The logistic regression analyses included sociodemographic variables, as well as factors related to the participant's individual characteristics and to their social environment. Results: Medicine use for negative emotional states was confirmed by about 24%-30% of respondents. The prevalence of these medicine use among SEC youth was significantly higher than among adolescents from mainstream schools. The individual risk factors associated with medicine use were gender (female), current mental and somatic health problems, past suicide attempts and psychoactive substances use while self-control turned out to be protective factor. Among factors related to the respondents' social environment, positive relationships with peers were significant protective factor. Conclusions: Preventive measures aimed at SEC youth should be focused on improving positive relationships with peers and developing self-control. Educational programs for youth, their parents and SEC staff to develop knowledge and skills regarding safe medicines intake would also be useful.
Heterozygous carriers of pathogenic/likely pathogenic variants in autosomal recessive disorders seem to be asymptomatic. However, in recent years, an increasing number of case reports have suggested that mild and unspecific symptoms can occur in some heterozygotes, as symptomatic heterozygotes have been identified across different disease types, including neurological, neuromuscular, hematological, and pulmonary diseases. The symptoms are usually milder in heterozygotes than in biallelic variants and occur “later in life”. The status of symptomatic heterozygotes as separate entities is often disputed, and alternative diagnoses are considered. Indeed, often only a thin line exists between dual, dominant, and recessive modes of inheritance and symptomatic heterozygosity. Interestingly, recent population studies have found global disease effects in heterozygous carriers of some genetic variants. What makes the few heterozygotes symptomatic, while the majority show no symptoms? The molecular basis of this phenomenon is still unknown. Possible explanations include undiscovered deep-splicing variants, genetic and environmental modifiers, digenic/oligogenic inheritance, skewed methylation patterns, and mutational burden. Symptomatic heterozygotes are rarely reported in the literature, mainly because most did not undergo the complete diagnostic procedure, so alternative diagnoses could not be conclusively excluded. However, despite the increasing accessibility to high-throughput technologies, there still seems to be a small group of patients with mild symptoms and just one variant of autosomes in biallelic diseases. Here, we present some examples, the current state of knowledge, and possible explanations for this phenomenon, and thus argue against the existing dominant/recessive classification.
Background: Goal-directed decision-making is a central component of the broader reward and motivation system, and requires the ability to dynamically integrate both positive and negative feedback from the environment in order to maximize rewards and minimize losses over time. Altered decision-making processes, in which individuals fail to consider the negative consequences of their decisions on both themselves and others, may play a role in driving antisocial behaviour. Aim: The main study aim was to investigate possible differences in loss and risk aversion across matched patients, all with a schizophrenia spectrum disorder (SSD), but who varied according to whether they had a history of serious interpersonal violence or not, and a sample of healthy controls with no history of violence. Results: The sample included 14 forensic and 21 non-forensic patients with SSD, and 41 healthy controls. Among the three decision-making variables under investigation, risk aversion was the only significant predictor of membership of the three groups, with greater risk aversion among non-forensic patients with SSD compared to healthy controls. No differences were observed across groups in loss aversion and choice consistency. Conclusions: This evidence suggests a new potential treatment target for rehabilitative measures aimed at achieving functional improvements in patients with SSD by selectively leveraging the neuro-cognitive processing of reward.
Background The intracranial lipomas are rare congenital malformations accounting for approximately 0.1–1.3% of all intracranial tumors, of which Sylvian fissure lipomas account for <5%. These lesions are frequently associated with dysgenesis of neuronal brain tissues and vascular malformations and in the majority are asymptomatic. Intracranial lipomas on magnetic resonance imaging (MRI) may mimic late subacute hemorrhage due to similar radiological features. Due to the tight adhesion of the lipoma to the surrounding nerve structures and vessels, complete removal is difficult and does not guarantee the disappearance of symptoms. Case Description We present the case of a 42-year-old woman with chronic headaches and short-term memory impairment who was admitted to the emergency room after an out-of-hospital brain MRI with suspected ruptured right middle cerebral artery (MCA) aneurysm and late subacute intracranial hemorrhage. In the hospital, after clinical evaluation, emergency computed tomography (CT) angiography was performed, which revealed an unruptured fusiform aneurysm located in the right MCA trifurcation surrounded by an extremely hypodense lesion corresponding to fat in the right Sylvian fissure. No features of intracranial hemorrhage were present. The diagnosis of intracranial lipoma was finally confirmed after the MRI of the brain with a fat suppression sequence. Surgical treatment was not attempted, and the patient was treated conservatively with a satisfactory general outcome. Conclusion A Sylvian fissure lipoma may be associated with a fusiform aneurysm in the MCA trifurcation. By modifying the standard MRI protocol and performing a CT scan, an intracranial lipoma can be detected and a late subacute intracranial hemorrhage can be excluded.
Introduction: Treatment with cladribine tablets is indicated in highly active relapsing-remitting multiple sclerosis (RRMS). Cladribine tablets proved safe and effective in the pivotal CLARITY trial, but that trial included primarily treatment-naïve patients. In clinical practice however, cladribine tablets are often given to patients who have failed other treatments. Therefore, this study investigated the real-world safety and efficacy of cladribine tablets. Material and methods: We gathered data from nine MS clinical centres across Poland for patients with RRMS who started treatment with cladribine tablets from December 2019 to June 2022. Results: We enrolled 140 patients, with follow-up data available for 136 in year 1 and for 66 in year 2. At baseline, the mean age was 35.6 years, mean disease duration was 7.3 years, median EDSS score was 2.5, and 94% of patients were treatment- -experienced. Thirty-nine patients (27.9%) had undergone COVID-19, and 94 (67.1%) were vaccinated against COVID-19. The annualised relapse rate (ARR) decreased from 1.49 at baseline to 0.33 in year 1 (p < 0.001) and to 0.25 in year 2 (p < 0.001). The percentage of relapse-free patients increased from 11.5% at baseline to 70.2% in year 1 and 82.1% in year 2. The percentage of patients with active lesions decreased from 91.4% at baseline to 36.2% in year 1 and 18.2% in year 2. EDSS score remained stable or improved in 83.7% of patients in year 1 and 89.6% in year 2. No evidence of disease activity (NEDA-3) was achieved in 42.7% of patients in year 1 and 66.7% in year 2. Only one patient (0.72%) had grade 4 lymphopenia and 21 (15.1%) had grade 3 lymphopenia. Varicella zoster virus infections occurred in three patients. Eight patients discontinued treatment with cladribine: five due to inefficacy, one due to lymphopenia, and two due to a personal decision. Conclusions: Cladribine tablets proved safe and effective in a real-world cohort of treatment-experienced patients. However, the efficacy measures improved to a lesser extent in our cohort than in the pivotal clinical trial, which is probably due to a higher proportion of treatment-experienced patients in our cohort.
Background: Treatment of Wilson’s disease (WD), an inherited disease characterized by copper overload, is lifelong and there is the possibility that copper deficiency (CD) may occur. We systematically reviewed the literature to describe treatment patterns, symptoms and outcomes associated with CD. Methods: Using preferred reporting items for systematic reviews and meta-analyses (PRISMA) guidelines, the PubMed database was searched up to 6 April 2023. Results: Across 17 articles, 20 cases of CD were described, most commonly (15 cases) in WD patients treated with zinc salts (ZS), less often on combined chelator and ZS therapy (3 cases), molybdate salts plus ZS (1), or molybdate alone (1). CD symptoms occurred insidiously, including sideroblastic anemia, neutropenia, axonal sensory neuropathy, posterior cord myelopathy and increased ratio of epileptic seizures (or epilepsy). CD diagnosis was based on symptoms and severely reduced urinary copper excretion (<20 µg/24 h [<0.3 µmol/24 h] on ZS, or <100 µg/24 h [<1.6 µmol/24 h] on chelators) with low total serum copper and ceruloplasmin. Conclusions: Awareness of CD and regular monitoring of copper metabolism is needed during WD treatment. Temporary cessation of anti-copper treatment usually reverses serum copper reductions as well as pancytopenia; however, some symptoms, especially neuropathy and myelopathy, may persist.
Background: There has been a substantial change in the law on the provision of secure health services for offender-patients in Italy, a country currently with the lowest general psychiatry bed availability per head of the population in Europe, raising questions about possible differences in offender-patient admissions between European countries. Aims: In this multicentre case-control study, our aim was to compare the socio-demographic, clinical and criminological characteristics of a sample of Italian forensic in-patients with schizophrenia or similar psychosis with patients in a similar diagnostic range in specialist in-patient services elsewhere in Europe. Methods: Secure hospital unit in-patients with psychosis were recruited across five European countries (Italy, Austria, Germany, Poland and England). Consenting patients were interviewed by researchers and assessed using a multidimensional standardised process. Within country similarities between Austria, Germany, Poland and England were confirmed. Results: Overall, 39 Italian participants had had fewer years of education than the 182 patients in the other countries and were less likely to have ever had skilled or professional employment. The Italian patients had been older at first contact with any mental health services than the other Europeans. Diagnosed comorbidity rates were similar, but the Italian group reported higher levels of disability. Although the other European forensic patients were more likely to be undergoing treatment at the time of their index offence, they were also more likely to have been poorly compliant with treatment. The rate of suicide-related behaviours was significantly lower among the Italian patients than among the others. Conclusions: Notwithstanding similar diagnoses, important differences emerged between patients in Italian forensic mental health resident services and those in four other European countries, some possibly reflecting less access to earlier relevant services in Italy. Others, including lower disability ratings among the Italian patients and a lower rate of suicide-related behaviours, may indicate that the Italian reforms carry benefits. This is worthy of further evaluation.
Sleep-related rhythmic movement disorder is characterised by stereotyped and repetitive rhythmic movements involving large muscle groups during sleep with frequencies between 0.5 and 2 Hz. Most of the published studies on sleep-related rhythmic movement disorder have focussed on children. Therefore, we performed a systematic review on this topic focussing on the adult population. The review is followed by a case report. The review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. A total of seven manuscripts (n = 32 individuals) were included in the review. The clinical manifestation of body or head rolling predominated in the majority of included cases (53.13% and 43.75%, respectively). In n = 11 (34.37%) cases, a combination of rhythmic movements was observed. The literature review also revealed a wide spectrum of co-morbidities: insomnia, restless leg syndrome, obstructive sleep apnea, ischaemic stroke, epilepsy, hypertension, alcohol and drug dependency, mild depression, and diabetes mellitus. The case report presented a 33-year-old female who was referred to the sleep laboratory due to a suspicion of sleep bruxism and obstructive sleep apnea. Although the patient was initially suspected of having obstructive sleep apnea and sleep bruxism, after conducting video-polysomnography she met the criteria for sleep-related rhythmic movement disorder as she presented body rolling, which were surprisingly most evident during the rapid eye movement sleep stage. In summary, the prevalence of sleep-related rhythmic movement disorder among adults has not been determined yet. The present review and case report is a good starting point for discussion regarding rhythmic movement disorder in adults and further research on this topic.
Background: The increasing prevalence of type 2 diabetes mellitus (T2DM) and non-alcoholic fatty liver disease (NAFLD) states a serious problem for public health. The introduction of effective methods of treatment and prevention is crucial to avoid complications of these diseases. Among them, we can specify psychological factors that affect everyday life and determine the patient's attitude towards therapy, and what follows, their compliance in treatment. The literature indicates these connections in various ways; in our study, we extend this view to include a broader perspective of human personality. Objective: We decided to investigate the associations between personality factors and metabolic parameters in patients with NAFLD and T2DM in order to better understand the patient's approach to the treatment of a chronic disease, such as those mentioned, and to establish the basis for further research implementing psychological interventions in the treatment of NAFLD and T2DM. Methods: One hundred participants with NAFLD and T2DM underwent blood tests and anthropometric measures. Each of them was asked to complete five questionnaires evaluating their personality properties. Results: We revealed that a rise in body mass index is related to a fall in the emotional intelligence factor of utilizing emotions, and a rise in emotional perception. The decrease in task-oriented coping style and a rise in emotion-oriented coping style are associated with a waist-hip ratio increase. The increase in fasting plasma glucose is predicted by a decrease in task-oriented coping style score. A fall in social diversion coping style score is associated with a high-density lipoprotein increase; in turn, a triglycerides increase is connected with a decline in rhythmicity score. Conclusions: The personality factors are in relationship in the management of NAFLD and T2DM. They affect a patient's approach to treatment, which is very important, because we know lifestyle and dietary interventions are an important part of the treatment of these diseases. The compliance manifests by lifestyle modifications, taking medications regularly, measuring blood glucose, and inspection visits in outpatients' clinics are a large part of a diabetic's life. Future studies introducing psychological intervention to improve, e.g., coping styles or rhythmicity are needed to implement new methods of patient management.
Transactivation (TAR) DNA binding protein 43 kDa (TDP-43) inclusions frequently occur as a comorbid pathology in several neurodegenerative disorders, including Alzheimer's disease, Huntington's disease, Lewy body disease, and progressive supranuclear palsy, and may appear in association with nondegenerative neurological etiology, for example neoplastic, paraneoplastic, traumatic, or infectious. Relationships between various pathological proteins and mechanisms associated with TDP-43-induced neurodegeneration are still not fully understood. Thus, overlap of distinct neuropathological mechanisms frequently leads to greater brain atrophy and a more severe clinical course, suggesting the importance of co-pathologies in ante-mortem diagnosing and treatment. The present review aims to discuss the incidence, morphology, and role of TDP-43 pathology in the context of other dominant, hallmark pathologies, referred to as secondary TDP-43 proteinopathies. The previous part (Part 1) focused on common neurodegenerative diseases, including Alzheimer's disease, Huntington's disease, and Lewy body disease, while the present part (Part 2) discusses TDP-43 pathology in rare neurodegenerative diseases and neurological diseases with nondegenerative etiology.
Background: Deep brain stimulation of the anterior nucleus of the thalamus (ANT DBS) is a neuromodulation therapy for patients with refractory focal seizures evolving into bilateral tonic-clonic seizures when pharmacotherapy as well other neuromodulation techniques including vagus nerve stimulation or responsive neurostimulation have failed. Objective: We performed a prospective single-center study investigating the clinical efficacy and exact ANT DBS lead location in patients with DRE. Methods: The primary outcome measure was the proportion of patients with more than 50 % reduction in diary-recorded seizures when compared to three preoperative months (baseline seizure frequency). The close postoperative follow-up was performed every 3 months. The seizure frequency, stimulation settings and adverse events were closely monitored during follow-up visits. We also analyzed the seizure outcome with location of ANT DBS active contacts. Results: Between May 2020 and October 2022, 10 adult patients with a mean age of 38.5 years (range, 30-48 years) underwent bilateral ANT DBS surgery (mean duration of DRE 28.6 years, range 16-41 years). The median seizure count in three months period preceding surgery (baseline seizure count) was 43.2 (range, 4-150). Nine patients achieved more than 50 % seizure reduction at the last follow-up (mean range 3-33 13.6 months, months). ANT DBS caused seizure reduction 3 months after procedure as well as at last follow-up by 60.4 % and 73.3 %, respectively. Due to relatively small number of studying individuals we cannot precisely locate the area within ANT associated with good clinical outcome. Patients with temporal lobe epilepsy had a remarkable reduction of seizure frequency. No patient suffered transient or permanent neurological deficits. Conclusions: Clinical efficacy of ANT DBS may support more widespread utilization of this neuromodulation technique especially for seizures originating from temporal lobes.
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212 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
Sobieskiego 9, 02-957, Warsaw, Poland