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J Neurol Neurosurg Psychiatry 2004;75:226-230 Background and objectives: Restless legs syndrome (RLS) is an important and common cause of insomnia, and previous studies indicate that psychiatric wellbeing may be impaired [...]

BACKGROUND: Essential tremor (ET) is one of the most common neurologic disorders. Aside from underlying susceptibility genes, recent studies have also begun to focus on environmental toxic factors. Yet there remains a paucity of information on such factors, making studies of environmental factors important. A recent study in New York City found blood lead concentrations to be elevated in ET cases compared with matched controls. Chronic exposure to lead produces cerebellar damage, and this could predispose individuals to develop ET. OBJECTIVE: The aim of this study was to determine whether the elevation in blood lead concentrations observed in a single study in New York was similarly present in ET cases sampled from a completely different geographic region. METHODS: Blood lead concentrations were measured in 105 ET cases and 105 controls at Mersin University, Mersin, Turkey. RESULTS: The median blood lead concentration was 2.7 microg/dL in ET cases compared with 1.5 microg/dL in controls (p < 0.001). In an unadjusted logistic regression model, blood lead concentration was associated with diagnosis: odds ratio (OR) = 4.01; 95% confidence interval (CI), 2.53-6.37; p < 0.001 (i.e., each 1-microg/dL increase in blood lead concentration was associated with a 4-fold increased odds of ET). This association was more robust when cases were compared with a subsample of controls who did not share the same home environment (OR = 8.13; 95% CI, 3.05-21.65; p < 0.001). In adjusted models, results were similar. CONCLUSIONS: These data replicate those of a previous study in New York and demonstrate an association between the environmental toxicant lead and a common neurologic disorder. [ABSTRACT FROM AUTHOR]

A 27-year-old woman was admitted to the Emergency Department with right upper-extremity numbness and mild weakness followed by a bifrontal throbbing headache for 30 min, which was similar to a headache lasting for 12h that had occurred 3 days ago. Laboratory tests were unremarkable except for cerebrospinal fluid (CSF) lymphocytic pleocytosis. On the following day, a headache episode with left hemiparesis and hemihypoaesthesia, left hemifield visio-spatial inattention, anosagnosia and confusion recurred. The headache was diagnosed as headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) syndrome according to the criteria of the second edition of the International Classification of Headache Disorders. Simultaneously performed magnetic resonance imaging (MRI) revealed swelling of the grey matter, CSF enhancement in the sulci of the right temporal and occipital regions and hypoperfusion of the same brain regions. During the following 10 days two more similar episodes recurred and during the ensuing 12 months the patient remained headache free. Neuroimaging findings of the HaNDL syndrome are always thought as virtually normal. MRI abnormalities in our patient have not been reported in HaNDL syndrome previously, although they have been reported in hemiplegic migraine patients before. The findings in our case suggest that hemiplegic migraine and HaNDL syndrome may share a common pathophysiological pathway resulting in similar imaging findings and neurological symptoms. [ABSTRACT FROM PUBLISHER]

Background: The debriefing phase is the simulation phase where performance improves and learning occurs., Aim: This study examined the effects of the learning conversation (LC)-based, 3D (defusing, discovering and deepening) model-based and unstructured debriefing methods on satisfaction and debriefing experience after in-situ simulation among intensive care unit (ICU) nurses., Study Design: In this randomized controlled experimental study, three debriefing methods were compared, according to which 119 ICU nurses were divided into the following groups: LC group (n = 38), 3D group (n = 40) and control group (n = 41). In- situ simulation was performed with an intensive care patient scenario. p < .05 was considered statistically significant., Results: The total Debriefing Experience Scale-Experience with Debriefing part scores were 89.76 ± 8.10 in the LC group, 88.90 ± 8.70 in the 3D group and 88.29 ± 7.28 in the control group. No significant difference was found in debriefing experience and satisfaction between the groups (p > .05), but a significant difference was observed in the LC group. The groups showed a homogeneous distribution regarding participant characteristics., Conclusion: Debriefing experience and satisfaction do not differ between the methods., Relevance to Clinical Practice: Implementation of the simulation in the ICU in - situ with ICU nurses is beneficial in obtaining a fidelity experience. Performing the debriefing application after simulation in line with the model supports the International Nursing Association for Clinical Simulation and Learning (INACSL) debriefing standards., (© 2024 The Authors. Nursing in Critical Care published by John Wiley & Sons Ltd on behalf of British Association of Critical Care Nurses.)

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that PD patients are largely unaware of their genetic status and, therefore, cannot be recruited. Expanding the number of investigated PD-related genes and including genes related to disorders with overlapping clinical features in large, well-phenotyped PD patient groups is a prerequisite for capturing the full variant spectrum underlying PD and for stratifying and prioritizing patients for gene-targeted clinical trials. The Rostock Parkinson's disease (ROPAD) study is an observational clinical study aiming to determine the frequency and spectrum of genetic variants contributing to PD in a large international cohort. We investigated variants in 50 genes with either an established relevance for PD or possible phenotypic overlap in a group of 12 580 PD patients from 16 countries [62.3% male; 92.0% White; 27.0% positive family history (FH+), median age at onset (AAO) 59 years] using a next-generation sequencing panel. Altogether, in 1864 (14.8%) ROPAD participants (58.1% male; 91.0% White, 35.5% FH+, median AAO 55 years), a PD-relevant genetic test (PDGT) was positive based on GBA1 risk variants (10.4%) or pathogenic/likely pathogenic variants in LRRK2 (2.9%), PRKN (0.9%), SNCA (0.2%) or PINK1 (0.1%) or a combination of two genetic findings in two genes (∼0.2%). Of note, the adjusted positive PDGT fraction, i.e. the fraction of positive PDGTs per country weighted by the fraction of the population of the world that they represent, was 14.5%. Positive PDGTs were identified in 19.9% of patients with an AAO ≤ 50 years, in 19.5% of patients with FH+ and in 26.9% with an AAO ≤ 50 years and FH+. In comparison to the idiopathic PD group (6846 patients with benign variants), the positive PDGT group had a significantly lower AAO (4 years, P = 9 × 10-34). The probability of a positive PDGT decreased by 3% with every additional AAO year (P = 1 × 10-35). Female patients were 22% more likely to have a positive PDGT (P = 3 × 10-4), and for individuals with FH+ this likelihood was 55% higher (P = 1 × 10-14). About 0.8% of the ROPAD participants had positive genetic testing findings in parkinsonism-, dystonia/dyskinesia- or dementia-related genes. In the emerging era of gene-targeted PD clinical trials, our finding that ∼15% of patients harbour potentially actionable genetic variants offers an important prospect to affected individuals and their families and underlines the need for genetic testing in PD patients. Thus, the insights from the ROPAD study allow for data-driven, differential genetic counselling across the spectrum of different AAOs and family histories and promote a possible policy change in the application of genetic testing as a routine part of patient evaluation and care in PD., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Guarantors of Brain.)

Background: Ethical decision-making education in nursing can be taught effectively by combining different teaching models that support the visualisation of taught concepts and integrating theory into practice., Objectives: The study aims to examine the effect of flipped and jigsaw learning models on ethical decision-making and ethical sensitivity in nursing., Research Design: We used a nested mixed design. A pretest-posttest single-group quasi-experimental design was used in the quantitative part, and a case study method was used in the qualitative part., Participants and Research Context: This study was conducted in fall semester with second-year nursing students who studied an ethics course for the first time, using two different collaborative learning models. In the quantitative part, ethical dilemma and ethical sensitivity scales were made as pre-test with 117 and post-test with 128 students. In the qualitative part, a semi-structured three focus group interviews was conducted with 16 students., Ethical Considerations: After obtaining the approval of the University's ethics committee, the study was carried out after obtaining participants' informed written and verbal consent., Findings: Students' perspectives changed positively after training. This was related to six cases in section A of the Ethical Dilemma Scale. In part B, Practical Consideration (PC) and Principled Thinking (PT) mean scores were similar, showing no significant difference. For Familiarity in section C, it was determined that 68.4% of students in the pre-test and 77.3% in the post-test were familiar with similar dilemmas. The ethical sensitivity scale's total scores were in a similar range. In the qualitative stage, ethical decision-making, ethical sensitivity, ethical dilemma and the improvement process were obtained as a theme., Conclusions: There was an increase in the level of ethical sensitivity and familiarity with ethical dilemmas of nursing students after education. Flipped and jigsaw learning models can be used for nursing ethics courses., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: The aim is to examine self-regulated learning and self-efficacy levels of nursing students, the relationship between them, and to reveal the variables that make a significant difference., Design and Methods: This descriptive, cross-sectional study was conducted with a total of 417 nursing students. The data were collected using the Self-Regulated Learning Scale in Clinical Nursing Practice and Self-Efficacy Scale., Findings: Nursing students have high self-regulated learning (60.28 ± 11.47) and moderate self-efficacy (62.72 ± 11.04) scores, and there is a weak positive and significant relationship between them (r = 0.349, p < 0.001). Students' gender, grade, and self-confidence in practice made a significant difference in the scores (p < 0.05)., Practical Implications: Developing the self-regulated learning levels of nursing students can help increase the clinical practice performance of students by affecting their self-efficacy levels., (© 2022 Wiley Periodicals LLC.)

Background: Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy., Objectives: We investigated the role of SPTAN1 variants in rare neurological disorders such as ataxia and spastic paraplegia., Methods: We screened 10,000 NGS datasets across two international consortia and one local database, indicative of the level of international collaboration currently required to identify genes causative for rare disease. We performed in silico modeling of the identified SPTAN1 variants., Results: We describe 22 patients from 14 families with five novel SPTAN1 variants. Of six patients with cerebellar ataxia, four carry a de novo SPTAN1 variant and two show a sporadic inheritance. In this group, one variant (p.Lys2083del) is recurrent in four patients. Two patients have novel de novo missense mutations (p.Arg1098Cys, p.Arg1624Cys) associated with cerebellar ataxia, in one patient accompanied by intellectual disability and epilepsy. We furthermore report a recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia from seven families with a dominant inheritance pattern in four and a de novo origin in one case. One further patient carrying a de novo missense mutation (p.Gln2205Pro) has a complex spastic ataxic phenotype. Through protein modeling we show that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat., Conclusions: We show that SPTAN1 is a relevant candidate gene for ataxia and spastic paraplegia. We suggest that for the mutations identified in this study, disruption of the interlinking of spectrin helices could be a key feature of the pathomechanism. © 2022 International Parkinson and Movement Disorder Society., (© 2022 International Parkinson and Movement Disorder Society.)

In the present study, we focused on investigating the contribution of functional dopamine D2 and D3 receptor variants to motor and/or non-motor symptoms of early onset Parkinson's disease (EOPD). Three functional single nucleotide polymorphisms (SNPs), DRD3 rs6280, DRD2 rs2283265 and DRD2 rs1076560, were genotyped in 128 Turkish EOPD patients and then, statistical analysis was conducted for the potential impacts of SNPs on clinical parameters. All three SNPs were found to be statistically significant in terms of PD-related pain: DRD3 [rs6280; risk allele "T" for pain; p = 0.031; odds ratio (OR)=4.25], DRD2 [rs2283265; risk allele "A" for pain; p = 0.001; OR=8.47] and, DRD2 [rs1076560; risk allele "A" for pain; p = 0.022; OR=4.58]. Additionally, bilateral disease [p = 0.011; OR=5.10] and gender [risk group "female"; p = 0.003; OR=8.53] were also identified as significant univariate risk factors for PD-related pain. Based on logistic regression analysis conducted with the significant univariate risk factors, this the first report to clarify that a female patient with bilateral PD and DRD2 rs2283265 polymorphism has a significant risk for PD-related pain. Our findings might contribute to improve life quality by offering treatment options for pain in PD patients with these clinical and genetic features., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. Although the symptoms begin commonly in infancy, CTX diagnosis is often delayed. In this study, we report 7 Turkish CTX patients who had a delayed diagnosis despite early clinical signs and belonged to 6 unrelated families., Methods: We have retrospectively evaluated clinical, laboratory, imaging, and genetic findings of CTX patients, which were collected from 2 centers specialized in movement disorders: the Department of Neurology, Faculty of Medicine, Istanbul University, and the Department of Neurology, Faculty of Medicine, Mersin University., Results: All patients were diagnosed with CTX after neurological symptom development, and their mean age at diagnosis was 38.7 ± 9.6 years, despite a mean onset age of 12.4 ± 10.6 years. The mean follow-up period was 28 months (range: 3-60 months). The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (42%), febrile convulsion (42%), juvenile cataract (85%), childhood depression and autism (14%), parkinsonism (14%), and intellectual disability (100%). The most prominent neurological findings were the pyramidal-cerebellar syndrome (85%) and extrapyramidal signs (42%). All patients were genetically confirmed. Serum cholestanol levels were elevated in all patients and decreased after chenodeoxycholic acid (CDCA) treatment in 6 patients., Conclusion: This cohort is the largest CTX case series in Turkey. All cases showed improvement in gastrointestinal symptoms as a response to CDCA treatment and stabilization on neurological symptoms, i.e., no further progression of neurological abnormalities were noted during this treatment. Therefore, early diagnosis and treatment is crucial in preventing clinical deterioration., (© 2020 S. Karger AG, Basel.)

Objectives: To develop a reliable scale that can measure the attitudes of individuals using oral anticoagulant drugs (OACs). Methods: This methodological study was conducted with 296 followed-up individuals using OACs for at least 6 months and visiting the cardiology and neurology clinics of a hospital in Turkey during 2017. A 20-item pool was used to construct the scale and all items were found suitable after content validity analysis and preliminary testing. Construct validity was examined using confirmatory factor analysis (CFA) and exploratory factor analysis (EFA). Results: The Kaiser-Meyer-Olkin (KMO) value of the scale (0.79) and results of Bartlett's test showed that the sample size was suitable for factor analysis (p less than 0.001). The total Cronbach alpha coefficient of the scale was 0.83. Factor analysis to assess construct-content validity of the scale identified 4 factors (variance, 54%). Using a path diagram in CFA, Chi-square/df ratio values was calculated at 2.807, standardized root mean square residual (SRMR) at 0.093, comparative fit index (CFI) at 0.879, and root mean square error of approximation (RMSEA) at 0.078.  Conclusions: We found that the OACAs we developed had high reliability and validity.