RESUMO
BACKGROUND AND PURPOSE: Very little is known about the long-term prognosis of patients with functional tic-like behaviours (FTLBs). We sought to characterize the trajectory of symptom severity over a 12-month period. METHODS: Patients with FTLBs were included in our prospective longitudinal child and adult clinical tic disorder registries at the University of Calgary. Patients were prospectively evaluated 6 and 12 months after their first clinical visit. Tic inventories and severity were measured with the Yale Global Tic Severity Scale (YGTSS). RESULTS: Eighty-three youths and adults with FTLBs were evaluated prospectively until April 2023. Mean YGTSS total tic severity scores were high at baseline, with a mean score of 29.8 points (95% confidence interval [CI] = 27.6-32.1). Fifty-eight participants were reevaluated at 6 months, and 32 participants were reevaluated at 12 months. The YGTSS total tic severity score decreased significantly from the first clinical visit to 6 months (raw mean difference = 8.9 points, 95% CI = 5.1-12.7, p < 0.0001), and from 6 to 12 months (raw mean difference = 6.4 points, 95% CI = 0.8-12.0, p = 0.01). Multivariable linear regression demonstrated that tic severity at initial presentation and the presence of other functional neurological symptoms were associated with higher YGTSS total tic scores at 6 months, whereas younger age at baseline, receiving cognitive behavioural therapy for anxiety and/or depression, and prescription of selective serotonin reuptake inhibitors were associated with lower YGTSS total tic scores at 6 months. CONCLUSIONS: We observed a meaningful improvement in tic severity scores in youth and adults with FTLBs over a period of 6-12 months.
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COVID-19 , Transtornos de Tique , Tiques , Síndrome de Tourette , Criança , Adulto , Humanos , Adolescente , Seguimentos , Pandemias , Estudos Prospectivos , Índice de Gravidade de Doença , COVID-19/complicações , Transtornos de Tique/epidemiologia , Transtornos de Tique/terapia , Transtornos de Tique/complicações , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicologia , Síndrome de Tourette/terapiaRESUMO
Since 2019, a global increase in patients presenting with functional Tourette-like behaviors (FTB) has been observed. This has been related to the exposure of tic-related content in social media, although other factors seem to further fuel this phenomenon. Recently, we, therefore, proposed the term mass social media-induced illness (MSMI) as, in our opinion, this phenomenon constitutes a new type of mass sociogenic illness (MSI) that is in contrast to all recent outbreaks spread solely via social media. In accordance with this hypothesis, we were able to identify the host of the German YouTube channel "Gewitter im Kopf" ("Thunderstorm in the brain") as the initial virtual index case. The purpose of this paper is to present clinical characteristics of a sample of 32 patients diagnosed with MSMI-FTB compared to a large sample of patients with Tourette syndrome (TS) and other chronic tic disorders (CTD) (n = 1032) from the same center in Germany indicating clinical factors helpful to distinguish between tics in TS/CTD and MSMI-FTB. Our main findings were: in patients with MSMI-FTB compared to those with TS/CTD we found (i) a significantly higher age at onset, (ii) a significantly higher rate of females, (iii) a significantly higher rate of obscene and socially inappropriate symptoms, (iv) a significantly lower rate of comorbid ADHD, and (v) a significantly lower rate of OCD/OCB. In contrast, rates of comorbid anxiety and depression as well as reported frequencies of premonitory urges/sensations and suppressibility of symptoms did not differ between groups.
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Mídias Sociais , Transtornos de Tique , Síndrome de Tourette , Feminino , Humanos , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiologia , Estudos Prospectivos , Índice de Gravidade de DoençaRESUMO
BACKGROUND: Up to now, it is unclear whether different medicinal cannabis (MC) strains are differently efficacious across different medical conditions. In this study, the effectiveness of different MC strains was compared depending on the disease to be treated. METHODS: This was an online survey conducted in Germany between June 2020 and August 2020. Patients were allowed to participate only if they received a cannabis-based treatment from pharmacies in the form of cannabis flowers prescribed by a physician. RESULTS: The survey was completed by n=1,028 participants. Most participants (58%) have used MC for more than 1 year, on average, 5.9 different strains. Bedrocan (pure tetrahydrocannabinol to pure cannabidiol [THC:CBD]=22:<1) was the most frequently prescribed strain, followed by Bakerstreet (THC:CBD=19:<1) and Pedanios 22/1 (THC:CBD=22:1). The most frequent conditions MC was prescribed for were different pain disorders, psychiatric and neurological diseases, and gastrointestinal symptoms. Overall, the mean patient-reported effectiveness was 80.1% (range, 0-100%). A regression model revealed no association between the patient-reported effectiveness and the variety. Furthermore, no influence of the disease on the choice of the MC strain was detected. On average, 2.1 side effects were reported (most commonly dry mouth (19.5%), increased appetite (17.1%), and tiredness (13.0%)). However, 29% of participants did not report any side effects. Only 398 participants (38.7%) indicated that costs for MC were covered by their health insurance. CONCLUSIONS: Patients self-reported very good efficacy and tolerability of MC. There was no evidence suggesting that specific MC strains are superior depending on the disease to be treated.
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Maconha Medicinal , Humanos , Alemanha , Masculino , Maconha Medicinal/uso terapêutico , Feminino , Adulto , Pessoa de Meia-Idade , Estudos Prospectivos , Idoso , Adulto Jovem , Canabidiol/uso terapêutico , Inquéritos e Questionários , Adolescente , Dronabinol/uso terapêutico , Cannabis , Resultado do TratamentoRESUMO
We evaluated whether genetically elevated low-density lipoprotein cholesterol (LDL-C) levels are associated with lower risk of intracranial aneurysms and subarachnoid hemorrhage (IA/SAH). We conducted a 2-sample Mendelian randomization (MR) study. Our primary analysis used the inverse-variance weighted method. In secondary analyses, we implemented the MR-PRESSO method, restricted our analysis to LDL-C-specific instruments, and performed multivariate MR. A 1-mmol/l increase in genetically instrumented LDL-C levels was associated with a 17% lower risk of IA/SAH (odds ratio = 0.83, 95% confidence interval = 0.73-0.94, p = 0.004). Results remained consistent in secondary and multivariate analyses (all p < 0.05). Our results provide evidence for an inverse causal relationship between LDL-C levels and risk of IA/SAH. ANN NEUROL 2022;91:145-149.
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LDL-Colesterol/sangue , LDL-Colesterol/genética , Hemorragia Subaracnóidea/sangue , Hemorragia Subaracnóidea/genética , Humanos , Análise da Randomização Mendeliana , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND AND PURPOSE: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic-like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic-like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. METHODS: We used a formal consensus development process, using a multiround, web-based Delphi survey. The survey was based on an in-person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. RESULTS: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. CONCLUSIONS: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity.
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Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Adolescente , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/tratamento farmacológico , Consenso , Estudos Prospectivos , Transtornos de Tique/diagnóstico , Transtornos de Tique/tratamento farmacológicoRESUMO
BACKGROUND AND PURPOSE: Between 2019 and 2022, there was a marked rise in adolescents/young adults seeking urgent help for functional tic-like behaviours (FTLBs). Given the global scale of this phenomenon, we aimed to pool cases from different institutions in an international registry to better characterize this spectrum and facilitate future longitudinal observation. METHODS: An international collaborative group from 10 tertiary referral centres for tic disorders collected retrospective data on FTLB patients who sought specialists' attention between the last quarter of 2019 and June 2022. An audit procedure was used for collection of data, which comprised demographics, course of presentation and duration, precipitating and predisposing factors, phenomenology, comorbidities, and pharmacological treatment outcome. RESULTS: During the study period, we collected data on 294 patients with FTLBs, 97% of whom were adolescents and young adults and 87% of whom were female. FTLBs were found to have a peak of severity within 1 month in 70% of patients, with spontaneous remissions in 20%, and a very high frequency of complex movements (85%) and vocalizations (81%). Less than one-fifth of patients had pre-existing primary tic disorder, 66% had comorbid anxiety disorders, 28% comorbid depressive disorders, 24% autism spectrum disorder and 23% attention deficit/hyperactivity disorder. Almost 60% explicitly reported exposure to tic-related social media content. The vast majority of pharmacologically treated patients did not report benefit with tic-suppressing medications. CONCLUSIONS: Our data from the largest multicentre registry of FTLBs to date confirm substantial clinical differences from primary tic disorders. Social modelling was the most relevant contributing factor during the pandemic. Future longitudinal analyses from this database may help understand treatment approaches and responsiveness.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Transtornos de Tique , Tiques , Síndrome de Tourette , Adolescente , Adulto Jovem , Humanos , Feminino , Masculino , Estudos Retrospectivos , Transtornos de Tique/epidemiologia , Transtornos de Tique/tratamento farmacológico , Comorbidade , Síndrome de Tourette/epidemiologiaRESUMO
In 2011 a working group of the European Society for the Study of Tourette syndrome (ESSTS) developed the first European Guidelines for Tourette syndrome (TS) published in the ECAP journal. After a decade ESSTS now presents updated guidelines, divided into four sections: Part I: assessment, Part II: psychological interventions, Part III: pharmacological treatment and Part IV: deep brain stimulation (DBS). In this paper, we summarise new developments described in the guidelines with respect to assessment and treatment of tics. Further, summary findings from a recent survey conducted amongst TS experts on these same topics are presented, as well as the first European patient representative statement on research. Finally, an updated decision tree is introduced providing a practical algorithm for the treatment of patients with TS. Interestingly, in the last decade there has been a significant shift in assessment and treatment of tics, with more emphasis on non-pharmacological treatments.
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Transtornos de Tique , Tiques , Síndrome de Tourette , Humanos , Transtornos de Tique/diagnóstico , Transtornos de Tique/terapia , Tiques/diagnóstico , Tiques/terapia , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/psicologia , Síndrome de Tourette/terapiaRESUMO
In 2011, the European Society for the Study of Tourette Syndrome (ESSTS) published the first European guidelines for Tourette Syndrome (TS). We now present an update of the part on pharmacological treatment, based on a review of new literature with special attention to other evidence-based guidelines, meta-analyses, and randomized double-blinded studies. Moreover, our revision took into consideration results of a recent survey on treatment preferences conducted among ESSTS experts. The first preference should be given to psychoeducation and to behavioral approaches, as it strengthens the patients' self-regulatory control and thus his/her autonomy. Because behavioral approaches are not effective, available, or feasible in all patients, in a substantial number of patients pharmacological treatment is indicated, alone or in combination with behavioral therapy. The largest amount of evidence supports the use of dopamine blocking agents, preferably aripiprazole because of a more favorable profile of adverse events than first- and second-generation antipsychotics. Other agents that can be considered include tiapride, risperidone, and especially in case of co-existing attention deficit hyperactivity disorder (ADHD), clonidine and guanfacine. This view is supported by the results of our survey on medication preference among members of ESSTS, in which aripiprazole was indicated as the drug of first choice both in children and adults. In treatment resistant cases, treatment with agents with either a limited evidence base or risk of extrapyramidal adverse effects might be considered, including pimozide, haloperidol, topiramate, cannabis-based agents, and botulinum toxin injections. Overall, treatment of TS should be individualized, and decisions based on the patient's needs and preferences, presence of co-existing conditions, latest scientific findings as well as on the physician's preferences, experience, and local regulatory requirements.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtornos de Tique , Síndrome de Tourette , Adulto , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Criança , Feminino , Guanfacina/uso terapêutico , Humanos , Masculino , Risperidona/uso terapêutico , Transtornos de Tique/complicações , Transtornos de Tique/tratamento farmacológico , Síndrome de Tourette/complicações , Síndrome de Tourette/tratamento farmacológicoRESUMO
In 2011 the European Society for the Study of Tourette Syndrome (ESSTS) published its first European clinical guidelines for the treatment of Tourette Syndrome (TS) with part IV on deep brain stimulation (DBS). Here, we present a revised version of these guidelines with updated recommendations based on the current literature covering the last decade as well as a survey among ESSTS experts. Currently, data from the International Tourette DBS Registry and Database, two meta-analyses, and eight randomized controlled trials (RCTs) are available. Interpretation of outcomes is limited by small sample sizes and short follow-up periods. Compared to open uncontrolled case studies, RCTs report less favorable outcomes with conflicting results. This could be related to several different aspects including methodological issues, but also substantial placebo effects. These guidelines, therefore, not only present currently available data from open and controlled studies, but also include expert knowledge. Although the overall database has increased in size since 2011, definite conclusions regarding the efficacy and tolerability of DBS in TS are still open to debate. Therefore, we continue to consider DBS for TS as an experimental treatment that should be used only in carefully selected, severely affected and otherwise treatment-resistant patients.
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Estimulação Encefálica Profunda , Transtornos de Tique , Síndrome de Tourette , Bases de Dados Factuais , Estimulação Encefálica Profunda/métodos , Humanos , Sistema de Registros , Transtornos de Tique/terapia , Síndrome de Tourette/terapiaRESUMO
In 2011 a working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines for Tourette syndrome (TS). Now, we present an updated version 2.0 of these European clinical guidelines for Tourette syndrome and other tic disorders, part I: assessment. Therefore, the available literature has been thoroughly screened, supplemented with national guidelines across countries and discussions among ESSTS experts. Diagnostic changes between DSM-IV and DSM-5 classifications were taken into account and new information has been added regarding differential diagnoses, with an emphasis on functional movement disorders in both children and adults. Further, recommendations regarding rating scales to evaluate tics, comorbidities, and neuropsychological status are provided. Finally, results from a recently performed survey among ESSTS members on assessment in TS are described. We acknowledge that the Yale Global Tic Severity Scale (YGTSS) is still the gold standard for assessing tics. Recommendations are provided for scales for the assessment of tics and psychiatric comorbidities in patients with TS not only in routine clinical practice, but also in the context of clinical research. Furthermore, assessments supporting the differential diagnosis process are given as well as tests to analyse cognitive abilities, emotional functions and motor skills.
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Transtornos de Tique , Tiques , Síndrome de Tourette , Adulto , Criança , Comorbidade , Manual Diagnóstico e Estatístico de Transtornos Mentais , Humanos , Transtornos de Tique/diagnóstico , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/epidemiologiaRESUMO
Part II of the European clinical guidelines for Tourette syndrome and other tic disorders (ECAP journal, 2011) provides updated information and recommendations for psychological interventions for individuals with tic disorders, created by a working group of the European Society for the Study of Tourette Syndrome (ESSTS). A systematic literature search was conducted to obtain original studies of psychological interventions for tic disorders, published since the initial European clinical guidelines were issued. Relevant studies were identified using computerized searches of the MEDLINE and PsycINFO databases for the years 2011-2019 and a manual search for the years 2019-2021. Based on clinical consensus, psychoeducation is recommended as an initial intervention regardless of symptom severity. According to a systematic literature search, most evidence was found for Habit Reversal Training (HRT), primarily the expanded package Comprehensive Behavioral Intervention for Tics (CBIT). Evidence was also found for Exposure and Response Prevention (ERP), but to a lesser degree of certainty than HRT/CBIT due to fewer studies. Currently, cognitive interventions and third-wave interventions are not recommended as stand-alone treatments for tic disorders. Several novel treatment delivery formats are currently being evaluated, of which videoconference delivery of HRT/CBIT has the most evidence to date. To summarize, when psychoeducation alone is insufficient, both HRT/CBIT and ERP are recommended as first-line interventions for tic disorders. As part of the development of the clinical guidelines, a survey is reported from ESSTS members and other tic disorder experts on preference, use and availability of psychological interventions for tic disorders.
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Transtornos de Tique , Tiques , Síndrome de Tourette , Terapia Comportamental , Humanos , Intervenção Psicossocial , Tiques/terapia , Síndrome de Tourette/psicologia , Síndrome de Tourette/terapiaRESUMO
INTRODUCTION: Gilles de la Tourette syndrome (GTS) is a childhood onset disorder characterised by the presence of motor and vocal tics. The guidelines of both the American Academy of Neurology (AAN) as well as the European Society for the Study of Tourette Syndrome (ESSTS) recommend behavioural therapy and pharmacotherapy, mainly with antipsychotics, as first line treatments for tics. In spite of these well-established therapeutic approaches, a significant number of patients are dissatisfied because of insufficient tic reduction or intolerable side effects. Previous studies have suggested that cannabis-based medicine (CBM) might be an alternative treatment in these patients. MATERIAL AND METHODS: Two reviewers (KS, NS) searched the electronic database of PubMed on 1 July, 2021 for relevant studies using the search terms: ('Tourette syndrome' [MeSH Terms] OR 'Gilles de la Tourette syndrome' [MeSH Terms] OR 'tic disorders' [MeSH Terms] OR 'tics' [MeSH Terms] OR 'tic disorders'[Title/Abstract]) AND ('cannabis-based medicine' [Title/Abstract] OR 'cannabis' [Title/Abstract] OR 'dronabinol' [Title/Abstract] OR 'nabiximols' [Title/Abstract] OR 'tetrahydrocannabinol' [Title/Abstract] OR 'THC' [Title/Abstract] OR 'cannabidiol' [Title/Abstract], limit: 'humans'. These studies were further reviewed for additional relevant citations. The titles and abstracts of the studies obtained through this search were examined by two reviewers (KS, NS) in order to determine article inclusion. Discrepancies were addressed by the reviewers through discussion and eventually conversation with the senior reviewer (KMV). RESULTS: Although the amount of evidence supporting the use of CBM in GTS is growing, the majority of studies are still limited to case reports, case series, and open uncontrolled studies. To date, only two small randomised controlled trials (RCTs) using tetrahydrocannabinol (THC, dronabinol) have been published demonstrating the safety and efficacy of this intervention in the treatment of tics in patients with GTS. On the other hand, another RCT with Lu AG06466 (formerly known as ABX-1431), a modulator of endocannabinoid neurotransmission, has failed to prove effective in the therapy of GTS. Accordingly, under the guidelines of both the ESSTS and the AAN, treatment with CBM is categorised as an experimental intervention that should be applied to patients who are otherwise treatment-resistant. CONCLUSIONS: Increasing evidence suggests that CBM is efficacious in the treatment of tics and psychiatric comorbidities in patients with GTS. The results of ongoing larger RCTs, such as CANNA-TICS (ClinicalTrials.gov Identifier: NCT03087201), will further clarify the role of CBM in the treatment of patients with GTS.
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Antipsicóticos , Cannabis , Transtornos de Tique , Tiques , Síndrome de Tourette , Criança , Humanos , Transtornos de Tique/tratamento farmacológico , Transtornos de Tique/etiologia , Tiques/complicações , Tiques/tratamento farmacológico , Síndrome de Tourette/tratamento farmacológico , Síndrome de Tourette/psicologiaRESUMO
AIM OF THE STUDY: To assess the prevalence and characteristics of complementary and alternative medicine (CAM) use among multiple sclerosis (MS) patients in Poland. CLINICAL RATIONALE FOR THE STUDY: Multiple sclerosis (MS) is a chronic, progressive and disabling neurological disease with significant impact on quality of life. Although the efficacy and safety of complementary and alternative medicine (CAM) has not been scientifically confirmed, many patients use CAM as a complement or an alternative to conventional therapy. MATERIAL AND METHODS: Data was collected via a self-designed survey consisting of 33 questions. The questionnaire was distributed among MS patients hospitalised during 2016 in the MS Unit at the Department of Neurology, Medical University of Warsaw, Poland. The study group consisted of 75 patients (47 females, 28 males, mean age 44.6 ± 12.5 years) with clinically defined MS. RESULTS: According to the questionnaire, 48 patients (64%) had used CAM at least once. Most of the patients declared that CAM had a possible (58%) or a marked (43.7%) positive effect. 61.4% of CAM users reported reduced fatigue and 33.3% improved mood. There were significant correlations between CAM use and lower social and professional status (p < 0.04), disease progression (p < 0.03), and lack of efficacy of disease-modifying therapies (p < 0.04). There were no significant correlations between CAM usage and sex, habitation, education, marital or professional status. The most frequently used CAMs were vitamins (48%), and polyunsaturated fatty acids (36%); psychophysical methods (44%) included manual therapies (24%) and relaxation techniques (17.3%) as well as herbal medicine (29.3%). Physicians were considered to be the most reliable authority in both conventional treatment (97.3%) and CAM (67%). Complementary and alternative medicine users significantly more often discussed this issue with their doctors (56%) compared to patients who did not use alternative medicine (p < 0.05). However, 54% of patients did not inform their physician about CAM use. Responders said that physicians did not initiate discussion about it (55.9%), but 44% of patients would like to have the possibility of talking to a doctor about CAM. CONCLUSIONS AND CLINICAL IMPLICATIONS: Although CAM efficacy and safety is not confirmed, one should keep in mind that most MS patients use alternative methods, especially those individuals with a more severe phenotype. Physicians are mostly perceived as reliable authorities and therefore they should discuss this issue with patients in order to eliminate drug interactions and to improve compliance.
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Terapias Complementares , Esclerose Múltipla , Feminino , Masculino , Humanos , Esclerose Múltipla/epidemiologia , Qualidade de Vida , Terapias Complementares/métodos , Inquéritos e Questionários , PolôniaRESUMO
PURPOSE OF REVIEW: The role of lipids in spontaneous, nontraumatic intracerebral haemorrhage (ICH) remains controversial, as some studies suggest that lower levels of total and LDL cholesterol could increase the risk of this disease. Because of their random assortment during meiosis, genetic variants known to associate with lipid levels can be used as instruments to evaluate this relationship from a causal perspective. The purpose of this review is to summarize the existing literature related to genetically determined LDL cholesterol levels and risk of ICH. RECENT FINDINGS: A number of studies have demonstrated that lower LDL levels are associated with a higher risk of ICH and a higher burden of neuroimaging markers of cerebral small vessel disease, such as microbleeds and white matter hyperintensity volume. As for genetically elevated lipid levels, several studies confirmed an inverse association between LDL levels and ICH. However, a number of observational studies and large meta-analyses of clinical trials of statins have failed to show such association. SUMMARY: Observational studies and clinical trials of statins have yielded inconsistent results regarding a possible link between LDL levels and the risk of ICH. Genetic studies focused on genetically elevated LDL levels and risk of ICH have, for the most, found an inverse association.
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Hemorragia Cerebral , LDL-Colesterol , Inibidores de Hidroximetilglutaril-CoA Redutases , Hemorragia Cerebral/genética , Ensaios Clínicos como Assunto , Humanos , Estudos Observacionais como AssuntoRESUMO
[Figure: see text].
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Disparidades em Assistência à Saúde/etnologia , Grupos Minoritários , Acidente Vascular Cerebral/etnologia , Acidente Vascular Cerebral/terapia , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Saúde da População , Acidente Vascular Cerebral/diagnósticoRESUMO
BACKGROUND AND PURPOSE: Animal and observational studies indicate that smoking is a risk factor for aneurysm formation and rupture, leading to nontraumatic subarachnoid hemorrhage (SAH). However, a definitive causal relationship between smoking and the risk of SAH has not been established. Using Mendelian randomization (MR) analyses, we tested the hypothesis that smoking is causally linked to the risk of SAH. METHODS: We conducted a 1-sample MR study using data from the UK Biobank, a large cohort study that enrolled over 500 000 Britons aged 40 to 69 from 2006 to 2010. Participants of European descent were included. SAH cases were ascertained using a combination of self-reported, electronic medical record, and death registry data. As the instrument, we built a polygenic risk score using independent genetic variants known to associate (P<5×10-8) with smoking behavior. This polygenic risk score represents the genetic susceptibility to smoking initiation. The primary MR analysis utilized the ratio method. Secondary MR analyses included the inverse variance weighted and weighted median methods. RESULTS: A total of 408 609 study participants were evaluated (mean age, 57 [SD 8], female sex, 220 937 [54%]). Among these, 132 566 (32%) ever smoked regularly, and 904 (0.22%) had a SAH. Each additional SD of the smoking polygenic risk score was associated with 21% increased risk of smoking (odds ratio [OR], 1.21 [95% CI, 1.20-1.21]; P<0.001) and a 10% increased risk of SAH (OR, 1.10 [95% CI, 1.03-1.17]; P=0.006). In the primary MR analysis, genetic susceptibility to smoking was associated with a 63% increase in the risk of SAH (OR, 1.63 [95% CI, 1.15-2.31]; P=0.006). Secondary analyses using the inverse variance weighted method (OR, 1.57 [95% CI, 1.13-2.17]; P=0.007) and the weighted median method (OR, 1.74 [95% CI, 1.06-2.86]; P=0.03) yielded similar results. There was no significant pleiotropy (MR-Egger intercept P=0.39; MR Pleiotropy Residual Sum and Outlier global test P=0.69). CONCLUSIONS: These findings provide evidence for a causal link between smoking and the risk of SAH.
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Fumar/epidemiologia , Fumar/genética , Hemorragia Subaracnóidea/epidemiologia , Adulto , Idoso , Bases de Dados Factuais , Registros Eletrônicos de Saúde , Feminino , Predisposição Genética para Doença , Variação Genética , Humanos , Aneurisma Intracraniano/complicações , Masculino , Análise da Randomização Mendeliana , Pessoa de Meia-Idade , Herança Multifatorial , Razão de Chances , Medição de Risco , Autorrelato , Acidente Vascular Cerebral/etiologia , Resultado do Tratamento , Reino Unido/epidemiologiaRESUMO
Environmental factors are at least as important as genetic factors for the development of obsessive-compulsive symptoms (OCS), but the identification of such factors remain a research priority. Our study aimed to investigate the association between a broad scope of potential risk factors and OCS in a large community cohort of children and adolescents. We evaluated 1877 participants and their caregivers at baseline and after 3 years to assess various demographic, prenatal, perinatal, childhood adversity, and psychopathological factors. Mean age at baseline was 10.2 years (SD 1.9) and mean age at follow-up was 13.4 years (SD 1.9). Reports of OCS at baseline and follow-up were analyzed using latent variable models. At preliminary regression analysis, 15 parameters were significantly associated with higher OCS scores at follow-up. At subsequent regression analysis, we found that eight of these parameters remained significantly associated with higher follow-up OCS scores while being controlled by each other and by baseline OCS scores. The significant predictors of follow-up OCS were: lower socioeconomic status (p = 0.033); lower intelligence quotient (p = 0.013); lower age (p < 0.001); higher maternal stress level during pregnancy (p = 0.028); absence of breastfeeding (p = 0.017); parental baseline OCS (p = 0.038); youth baseline anxiety disorder (p = 0.023); and youth baseline OCS scores (p < 0.001). These findings may better inform clinicians and policymakers engaged in the mental health assessment and prevention in children and adolescents.
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Redes Comunitárias/normas , Transtorno Obsessivo-Compulsivo/psicologia , Psicopatologia/métodos , Criança , Estudos de Coortes , Comorbidade , Feminino , Seguimentos , Humanos , Masculino , Fatores de RiscoRESUMO
CLINICAL RATIONALE FOR THE STUDY: Gilles de la Tourette syndrome (GTS) is a childhood onset disorder characterised by motor and vocal tics. Different types of motor tics may occur in GTS, including dystonic tics (DTs). Although DTs have been recognised as part of GTS symptomatology, little is known about their risk factors or about how often and at what age they appear in affected individuals. AIM OF THE STUDY: The aim of our study was to investigate lifetime prevalence and clinical correlations of DTs in a Polish cohort of GTS patients. MATERIAL AND METHODS: We performed a prospective, one-registration study in a cohort of 207 consecutive ambulatory patients (mean age: 16.5 ± 9.4 years, 131 children, 162 males) with GTS. Duration of GTS was 9.0 ± 8.0 years (range: 1-39 years). DTs were diagnosed during the interview. DTs were defined as slower and lasting longer than typical clonic tics, abnormal dystonia-like movements that led to a sustained, but not fixed, posture. RESULTS: DTs occurred at some point in the lifetime of 73.9% (n = 153) of patients. The prevalence of DTs in adults and children was almost the same (p = 0.963). Age at onset of DTs was 9.9 ± 5.2 years with the most frequent onset in children (7-11 years, 74.4%, n = 64), followed by adolescence (12-18 years; 17.4%, n = 15) and adulthood (≥ 18 years, 8.1%, n = 7). DTs occurred 3.7 ± 4.2 years after tic onset. On average, patients suffered from 1.8 ± 1.7 types of DTs. The most frequent manifestations of DTs were: eyes (tightening resembling blepharospasm 84.3%, n = 129 and oculogyric crisis 45.8%, n = 70), trunk (dystonic postures 59.5%, n = 91), jaw (bruxism 34.6%, n = 53), neck (30.7%, n = 47), upper limb (26.1%, n = 40), and foot (20.9%, n = 32). Multivariate logistic regression analysis showed significant associations of DTs with the total number of simple, and the total number of complex, tics. CONCLUSIONS AND CLINICAL IMPLICATIONS: DTs are early and frequent symptoms of GTS. They tend to localise in the facial area. DTs occur more frequently in individuals with a higher number of tics and probably add to the global impairment caused by tics.
Assuntos
Transtornos de Tique , Tiques , Síndrome de Tourette , Adolescente , Adulto , Criança , Humanos , Masculino , Polônia , Estudos Prospectivos , Adulto JovemRESUMO
Aripiprazole is a dopamine D2- and serotonin 5-hydroxytryptamine (5-HT)1A receptor partial agonist and 5-HT2A receptor antagonist primarily used for the treatment of schizophrenia, bipolar disorder or depression with psychotic ideation. However, recently a number of new possible indications have been suggested, among them Gilles de la Tourette syndrome (GTS). In two randomized, double-blind, placebo-controlled studies in children and adolescents with GTS has been confirmed the efficacy of aripiprazole in tic reduction. In comparison to other neuroleptics, aripiprazole seems to be similarly effective. What is more, the number and profile of possible adverse effects is also favorable. As a consequence, aripiprazole had been registered by Food and Drug Administration (FDA) for the treatment of tics and represents new therapeutic option in treatment of GTS.