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Journal of Personalized Medicine Mar 2023The inadequate efficacy and adverse effects of antipsychotics severely affect the recovery of patients with schizophrenia spectrum disorders (SSD). We report the... (Review)
Review
The inadequate efficacy and adverse effects of antipsychotics severely affect the recovery of patients with schizophrenia spectrum disorders (SSD). We report the evidence for associations between pharmacogenetic (PGx) variants and antipsychotics outcomes, including antipsychotic response, antipsychotic-induced weight/BMI gain, metabolic syndrome, antipsychotic-related prolactin levels, antipsychotic-induced tardive dyskinesia (TD), clozapine-induced agranulocytosis (CLA), and drug concentration level (pharmacokinetics) in SSD patients. Through an in-depth systematic search in 2010-2022, we identified 501 records. We included 29 meta-analyses constituting pooled data from 298 original studies over 69 PGx variants across 39 genes, 4 metabolizing phenotypes of , and 3 of . We observed weak unadjusted nominal significant ( < 0.05) additive effects of PGx variants of , , , , , , and (10 variants) on antipsychotic response; , , , , , , , , , and (14 variants) on weight gain; (one variant) on metabolic syndrome; (one variant) on prolactin levels; and (two variants) on TD; HLA-DRB1 (one variant) on CLA; (four phenotypes) and (two phenotypes) on antipsychotics plasma levels. In the future, well-designed longitudinal naturalistic multi-center PGx studies are needed to validate the effectiveness of PGx variants in antipsychotic outcomes before establishing any reproducible PGx passport in clinical practice.
PubMed: 36983653
DOI: 10.3390/jpm13030471 -
Single-Nucleotide Polymorphisms as Biomarkers of Antipsychotic-Induced Akathisia: Systematic Review.Genes Feb 2023Antipsychotic-induced akathisia (AIA) is a movement disorder characterized by a subjective feeling of inner restlessness or nervousness with an irresistible urge to... (Review)
Review
Antipsychotic-induced akathisia (AIA) is a movement disorder characterized by a subjective feeling of inner restlessness or nervousness with an irresistible urge to move, resulting in repetitive movements of the limbs and torso, while taking antipsychotics (APs). In recent years, there have been some associative genetic studies of the predisposition to the development of AIA. : The goal of our study was to review the results of associative genetic and genome-wide studies and to systematize and update the knowledge on the genetic predictors of AIA in patients with schizophrenia (Sch). We searched full-text publications in PubMed, Web of Science, Springer, Google Scholar, and e-Library databases from 1977 to 2022. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) quality scale was used for the critical selection of the studies. We identified 37 articles, of which 3 were included in the review. Thus, the C allele of rs1800498 (59414 C>T) and the A allele of rs1800497 (17316 G>A) (TaqIA) from the gene as well as the TT genotype rs13212041 (77461407 C>T) from the gene were found to be associated with AIA. : Uncovering the genetic biomarkers of AIA may provide a key to developing a strategy for the personalized prevention and treatment of this adverse neurological drug reaction of APs in patients with Sch in real clinical practice.
Topics: Humans; Antipsychotic Agents; Psychomotor Agitation; Polymorphism, Single Nucleotide; Schizophrenia; Biomarkers
PubMed: 36980888
DOI: 10.3390/genes14030616 -
Developmental Medicine and Child... May 2023
Meta-Analysis
Topics: Humans; Cerebral Palsy; Dystonia; Dystonic Disorders; Deep Brain Stimulation; Neurosurgical Procedures
PubMed: 36929103
DOI: 10.1111/dmcn.15579 -
European Review For Medical and... Feb 2023Myoclonus is one of the main complications of etomidate anesthesia, which would develop into serious consequences during surgery. The present analysis was performed to... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Myoclonus is one of the main complications of etomidate anesthesia, which would develop into serious consequences during surgery. The present analysis was performed to evaluate systematically the effect of propofol on preventing etomidate-induced myoclonus in adult patients.
MATERIALS AND METHODS
Systematic electronic literature search was performed in the databases PubMed, Cochrane Library, OVID, Wanfang and China National Knowledge Infrastructure (CNKI) from inception to May 20, 2021, without any language restrictions. All randomized controlled trials evaluating the efficacy of propofol on preventing etomidate-induced myoclonus were enrolled. The primary outcome included the incidence and degree of etomidate-induced myoclonus.
RESULTS
1,420 patients (with 602 received etomidate anesthesia and 818 received propofol plus etomidate anesthesia) from 13 studies were eventually included. Whatever the intravenous propofol dose for anesthesia induction 0.8-2 mg/kg (RR:4.04, 95% CI [2.42,6.74] p<0.0001, I2=56.5%), or the dose of propofol for anesthesia induction 0.5-0.8 mg/kg (RR:3.26, 95% CI [2.03,5.22] p<0.0001, I2=0%), or the dose of propofol for anesthesia induction 0.25-0.5mg/kg (RR:1.68, 95% CI [1.1,2.56] p=0.0160, I2=0%), combination of propofol and etomidate could significantly decrease the occurrence of etomidate-related myoclonus (RR=2.99, 95% CI [2.40, 3.71] p<0.0001, I2=43.4%), compared with etomidate alone. In addition, propofol plus etomidate attenuated the incidence of mild (RR:3.40, 95% CI [1.7,6.82] p=0.0010, I2=54.3%), moderate (RR:5.4, 95% CI [3.01, 9.67] p<0.0001, I2=12.6%), severe (RR:4.15, 95% CI [2.11, 8.13] p<0.0001, I2=0%) of etomidate-induced myoclonus without adverse effects except for the increased incidence of pain on injection (RR:0.47, 95% CI [0.26, 0.83] p=0.0100, I2=41.5%) compared with etomidate alone.
CONCLUSIONS
The meta-analysis currently generates the evidence of combination of propofol with the dosage of 0.25-2 mg/kg and etomidate can alleviate the occurrence and severity of etomidate-induced myoclonus, with decreased incidence of postoperative nausea and vomiting (PONV) and comparative side effects of hemodynamic and respiratory depression of patients in comparison with etomidate alone.
Topics: Adult; Humans; Anesthesia, General; Drug-Related Side Effects and Adverse Reactions; Etomidate; Myoclonus; Pain; Propofol
PubMed: 36876671
DOI: 10.26355/eurrev_202302_31366 -
Toxins Jan 2023This review provides an up-to-date literature account on the efficacy of Botulinum toxin treatment for common motor disorders of Parkinson Disease. The reviewed... (Review)
Review
This review provides an up-to-date literature account on the efficacy of Botulinum toxin treatment for common motor disorders of Parkinson Disease. The reviewed disorders include the common motor disorders in PD such as tremor, focal foot dystonia, rigidity and freezing of gait (FOG). In the area of Parkinson tremor, two newly described evaluation/injection techniques (Yale method in USA and Western University method in Canada) offer efficacy with low incidence of hand and finger weakness as side effects. Blinded studies conducted on foot dystonia of PD indicate that botulinum toxin injections into toe flexors are efficacious in alleviating this form of dystonia. Small, blinded studies suggest improvement of Parkinson rigidity after botulinum toxin injection; proof of this claim, however, requires information from larger, blinded clinical trials. In FOG, the improvement reported in open label studies could not be substantiated in blinded investigations. However, there is room for further controlled studies that include the proximal lower limb muscles in the injection plan and/or use higher doses of the injected toxin for this indication.
Topics: Humans; Botulinum Toxins; Parkinson Disease; Dystonia; Tremor; Motor Disorders; Gait Disorders, Neurologic; Dystonic Disorders; Botulinum Toxins, Type A; Treatment Outcome
PubMed: 36828396
DOI: 10.3390/toxins15020081 -
Psychiatria Danubina Dec 2022The epidemiological analyses on Huntington's Disease (HD) indicate that prevalence rates in the Asian population are significantly lower than in the Western population.... (Meta-Analysis)
Meta-Analysis
The epidemiological analyses on Huntington's Disease (HD) indicate that prevalence rates in the Asian population are significantly lower than in the Western population. The research aims to explore the prevalence of HD in Asian countries. Point Prevalence (PP) is equivalent to the number of people affected by HD per 100,000 inhabitants. A meta-analysis was completed on prevalence rates to extract the global PP and the degree of heterogeneity of I² to confirm or discard similarities of PP of HD in Asian countries. Nine major studies were identified. A random-effect meta-analysis showed PP prevalence in Asia of 0.52 (CI95%=0.36-0.75). There is also a significant difference between PP of Asia vs Europe (p<0.001), confirming a lower prevalence of HD in Asian countries except for Pakistan, Punjab, and Gujarat, which have the higher prevalence in Asia. Our study reveals that Huntington's Disease affects Asia's population with variable figures globally to a lesser extent than Europe, although some Middle East countries present the highest global prevalence. The possible reasons are explored. The following are take-home messages derived from the current study. HD in Asia shows a point prevalence lower than European Countries, probably due to differences in clinical, instrumental and diagnostic procedures. Stigma linked to HD and its impact on family and society can reduce people's mindfulness to undergo targeted assessment. Further research is required to estimate the true prevalence of HD worldwide and promote better diagnostic screening using genetic testing. The true prevalence of HD is probably underestimated, and there is the need to provide education in the general population about this condition and testing.
Topics: Humans; Huntington Disease; Prevalence; Europe; Pakistan
PubMed: 36752239
DOI: No ID Found -
Journal of Neurology May 2023Huntington's disease (HD) is a genetic, neurodegenerative disease. Due to the progressive nature of HD and the absence of a cure, (health-related) quality of life... (Review)
Review
BACKGROUND
Huntington's disease (HD) is a genetic, neurodegenerative disease. Due to the progressive nature of HD and the absence of a cure, (health-related) quality of life ((HR)QoL) is an important topic. Several studies have investigated (HR)QoL in HD, yet a clear synthesis of the existing literature is lacking to date. We performed a systematic review on self-reported (HR)QoL, and factors and intervention effects associated with (HR)QoL in premanifest and manifest HD gene expansion carriers (pHDGECs and mHDGECs, respectively).
METHODS
PubMed, EMBASE, Web of Science, and PsycINFO were searched systematically from September 17th, 2021, up to August 11th, 2022. Methodological and conceptual quality of the included studies was assessed with two appraisal tools.
RESULTS
30 out of 70 eligible articles were included. mHDGECs experienced lower (HR)QoL compared to pHDGECs and controls, whereas mixed findings were reported when compared to other neurological diseases. Several factors were associated with (HR)QoL that might contribute to lower (HR)QoL in mHDGECs, including depressive symptoms, physical and psychological symptoms, lower functional capacity, lower support, and unmet needs. Multidisciplinary rehabilitation programs and a respiratory muscle training were beneficial for (HR)QoL in mHDGECs.
DISCUSSION
(HR)QoL is experienced differently across the course of the disease. Although (HR)QoL is key for understanding the impact of HD and the effect of symptomatic treatment, there is a need to improve the methodological and conceptual shortcomings that were found in most studies, especially regarding the conceptual clarity when reporting on QoL and HRQoL. Suggestions for strengthening these shortcomings are provided in this review.
Topics: Humans; Huntington Disease; Quality of Life; Neurodegenerative Diseases; Self Report
PubMed: 36715747
DOI: 10.1007/s00415-022-11551-8 -
European Journal of Nuclear Medicine... Jun 2023To give a comprehensive literature overview of alterations in regional cerebral glucose metabolism, measured using [F]FDG PET, in conditions associated with hyperkinetic... (Review)
Review
PURPOSE
To give a comprehensive literature overview of alterations in regional cerebral glucose metabolism, measured using [F]FDG PET, in conditions associated with hyperkinetic movement disorders and ataxia. In addition, correlations between glucose metabolism and clinical variables as well as the effect of treatment on glucose metabolism are discussed.
METHODS
A systematic literature search was performed according to PRISMA guidelines. Studies concerning tremors, tics, dystonia, ataxia, chorea, myoclonus, functional movement disorders, or mixed movement disorders due to autoimmune or metabolic aetiologies were eligible for inclusion. A PubMed search was performed up to November 2021.
RESULTS
Of 1240 studies retrieved in the original search, 104 articles were included. Most articles concerned patients with chorea (n = 27), followed by ataxia (n = 25), dystonia (n = 20), tremor (n = 8), metabolic disease (n = 7), myoclonus (n = 6), tics (n = 6), and autoimmune disorders (n = 5). No papers on functional movement disorders were included. Altered glucose metabolism was detected in various brain regions in all movement disorders, with dystonia-related hypermetabolism of the lentiform nuclei and both hyper- and hypometabolism of the cerebellum; pronounced cerebellar hypometabolism in ataxia; and striatal hypometabolism in chorea (dominated by Huntington disease). Correlations between clinical characteristics and glucose metabolism were often described. [F]FDG PET-showed normalization of metabolic alterations after treatment in tremors, ataxia, and chorea.
CONCLUSION
In all conditions with hyperkinetic movement disorders, hypo- or hypermetabolism was found in multiple, partly overlapping brain regions, and clinical characteristics often correlated with glucose metabolism. For some movement disorders, [F]FDG PET metabolic changes reflected the effect of treatment.
Topics: Humans; Fluorodeoxyglucose F18; Chorea; Tremor; Dystonia; Hyperkinesis; Tics; Myoclonus; Ataxia; Movement Disorders; Glucose
PubMed: 36702928
DOI: 10.1007/s00259-023-06110-w -
Neuropsychology Review Mar 2024Growing evidence points to a spectrum of non-motor symptoms, including cognitive difficulties that have a greater impact on functional outcomes and quality of life than... (Review)
Review
Growing evidence points to a spectrum of non-motor symptoms, including cognitive difficulties that have a greater impact on functional outcomes and quality of life than motor symptoms in cervical dystonia (CD). Some cognitive impairments have been reported; however, findings are inconsistent, and described across mixed groups of dystonia. The current review aimed to examine the evidence for cognitive impairments in CD. MEDLINE, EMBASE, PsychINFO and Web of Science databases were searched. Studies were included if they met the following criteria (i) cross-sectional or longitudinal studies of adults with CD, (ii) where the results of standardised measures of cognitive or neuropsychological function in any form were assessed and reported, (iii) results compared to a control group or normative data, and (iv) were published in English. Results are presented in a narrative synthesis. Twenty studies were included. Subtle difficulties with general intellectual functioning, processing speed, verbal memory, visual memory, visuospatial function, executive function, and social cognition were identified while language, and attention and working memory appear to be relatively spared. Several methodological limitations were identified that should be considered when interpreting the evidence to describe a specific profile of cognitive impairment in CD. Clinical and research implications are discussed.
Topics: Adult; Humans; Torticollis; Quality of Life; Cross-Sectional Studies; Cognition; Memory, Short-Term
PubMed: 36696021
DOI: 10.1007/s11065-022-09558-z -
NeuroImage. Clinical 2023Hyperkinetic movement disorders (HMD) manifest as abnormal and uncontrollable movements. Despite reported involvement of several neural circuits, exact connectivity... (Review)
Review
BACKGROUND
Hyperkinetic movement disorders (HMD) manifest as abnormal and uncontrollable movements. Despite reported involvement of several neural circuits, exact connectivity profiles remain elusive.
OBJECTIVES
Providing a comprehensive literature review of resting-state brain connectivity alterations using resting-state fMRI (rs-fMRI). We additionally discuss alterations from the perspective of brain networks, as well as correlations between connectivity and clinical measures.
METHODS
A systematic review was performed according to PRISMA guidelines and searching PubMed until October 2022. Rs-fMRI studies addressing ataxia, chorea, dystonia, myoclonus, tics, tremor, and functional movement disorders (FMD) were included. The standardized mean difference was used to summarize findings per region in the Automated Anatomical Labeling atlas for each phenotype. Furthermore, the activation likelihood estimation meta-analytic method was used to analyze convergence of significant between-group differences per phenotype. Finally, we conducted hierarchical cluster analysis to provide additional insights into commonalities and differences across HMD phenotypes.
RESULTS
Most articles concerned tremor (51), followed by dystonia (46), tics (19), chorea (12), myoclonus (11), FMD (11), and ataxia (8). Altered resting-state connectivity was found in several brain regions: in ataxia mainly cerebellar areas; for chorea, the caudate nucleus; for dystonia, sensorimotor and basal ganglia regions; for myoclonus, the thalamus and cingulate cortex; in tics, the basal ganglia, cerebellum, insula, and frontal cortex; for tremor, the cerebello-thalamo-cortical circuit; finally, in FMD, frontal, parietal, and cerebellar regions. Both decreased and increased connectivity were found for all HMD. Significant spatial convergence was found for dystonia, FMD, myoclonus, and tremor. Correlations between clinical measures and resting-state connectivity were frequently described.
CONCLUSION
Key brain regions contributing to functional connectivity changes across HMD often overlap. Possible increases and decreases of functional connections of a specific region emphasize that HMD should be viewed as a network disorder. Despite the complex interplay of physiological and methodological factors, this review serves to gain insight in brain connectivity profiles across HMD phenotypes.
Topics: Humans; Tremor; Myoclonus; Tics; Dystonia; Magnetic Resonance Imaging; Chorea; Hyperkinesis; Brain; Brain Mapping; Dystonic Disorders; Ataxia; Neural Pathways
PubMed: 36669351
DOI: 10.1016/j.nicl.2022.103302