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Neuromodulation : Journal of the... Apr 2024Guanine nucleotide-binding protein alpha-activating activity polypeptide O (GNAO1) syndrome, a rare congenital monogenetic disorder, is characterized by a... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Guanine nucleotide-binding protein alpha-activating activity polypeptide O (GNAO1) syndrome, a rare congenital monogenetic disorder, is characterized by a neurodevelopmental syndrome and the presence of dystonia. Dystonia can be very pronounced and even lead to a life-threatening status dystonicus. In a small number of pharmaco-refractory cases, deep brain stimulation (DBS) has been attempted to reduce dystonia. In this study, we summarize the current literature on outcome, safety, and outcome predictors of DBS for GNAO1-associated dystonia.
MATERIALS AND METHODS
We conducted a systematic review and meta-analysis on individual patient data. We included 18 studies describing 28 unique patients.
RESULTS
The mean age of onset of symptoms was 2.4 years (SD 3.8); 16 of 28 patients were male, and dystonia was nearly always generalized (20/22 patients). Symptoms were present before DBS for a median duration of 19.5 months, although highly variable, occurring between 3 and 168 months. The exact phenotype, genotype, and radiologic abnormalities varied and seemed to be of little importance in terms of DBS outcome. All studies described an improvement in dystonia. Our meta-analysis focused on pallidal DBS and found an absolute and relative improvement in Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) of 32.5 points (37.9%; motor part; p = 0.001) and 5.8 points (21.5%; disability part; p = 0.043) at last follow-up compared with preoperative state; 80% of patients were considered responders (BFMDRS-M reduction by ≥25%). Although worsening over time does occur, an improvement was still observed in patients after >10 years. All reported cases of status dystonicus resolved after DBS surgery. Skin erosion and infection were observed in 18% of patients.
CONCLUSION
Pallidal DBS can be efficacious and safe in GNAO1-associated dystonia.
Topics: Child, Preschool; Female; Humans; Male; Deep Brain Stimulation; Dystonia; Dystonic Disorders; Globus Pallidus; GTP-Binding Protein alpha Subunits, Gi-Go; Heredodegenerative Disorders, Nervous System; Treatment Outcome; Infant, Newborn; Infant; Child
PubMed: 37999699
DOI: 10.1016/j.neurom.2023.10.187 -
Journal of Neuroimmunology Dec 2023Huntington's disease (HD) is an autosomal dominant disease caused by an abnormally high number of CAG repeats at the huntingtin-encoding gene, HTT. This genetic... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Huntington's disease (HD) is an autosomal dominant disease caused by an abnormally high number of CAG repeats at the huntingtin-encoding gene, HTT. This genetic alteration results in the expression of a mutant form of the protein (mHTT) and the formation of intracellular aggregates, inducing an inflammatory state within the affected areas. This dysfunction of inflammatory response leads to elevated levels of related inflammatory markers in both CNS tissue samples and body fluids. This study aims to investigate peripheral/blood concentrations of inflammatory molecules in HD.
METHODS
A search was conducted in MEDLINE, Scopus, Web of Science, and Embase databases until March 30th, 2023. Random-effect meta-analysis was used for exploring concentrations of inflammatory molecules in HD. Subgroup and sensitivity analyses were used to assess heterogeneity among the included studies. The study protocol has been registered in PROSPERO with the ID number CRD42022296078.
RESULTS
Ten studies were included in the meta-analysis. Plasma levels of Interleukin 6 (IL-6) and IL-10 were higher in HD compared to controls. Other biomarkers, namely, complement component C-reactive protein (CRP), C3, interferon-γ (IFN-γ), IL-1, IL-2, IL-8, and tumor necrosis factor-α (TNF-α), did not show any significant differences between the two groups. In addition, the subgroup analysis results established no significant differences in levels of these biomarkers in body fluids among premanifest and manifest HD patients.
CONCLUSION
The results of this study provide evidence for the presence of higher plasma levels of IL-6 and IL-10 in HD patients in comparison with healthy controls.
Topics: Humans; Huntington Disease; Interleukin-6; Interleukin-10; Biomarkers; Tumor Necrosis Factor-alpha; Huntingtin Protein
PubMed: 37984118
DOI: 10.1016/j.jneuroim.2023.578243 -
Cureus Oct 2023Muco-obstructive lung disease is a new classification under the diseases of respiratory tract. A lot of discussion is still going on regarding this new group of... (Review)
Review
Muco-obstructive lung disease is a new classification under the diseases of respiratory tract. A lot of discussion is still going on regarding this new group of diseases. It is characterised by obstruction of the respiratory tract with a thick mucin layer. Usually in normal individuals, the mucus is swept out of the respiratory system while coughing in the form of sputum or phlegm, but if the consistency of the mucus is thick, or the amount is heavy or there is a certain defect in the ciliary function of the respiratory tract, the mucus is not cleared and it gets accumulated in the lungs alveoli, therefore blocking it. The mucus trapped in the distal airways cannot be cleared by coughing therefore forming a layer in the alveoli and bronchioles. Long-standing condition causes inflammation and infection. This new group of diseases specifically includes chronic obstructive pulmonary disease (COPD), cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and non-cystic fibrosis bronchiectasis (NCFB). Asthma, although an obstructive disease of the lung, is not particularly included under muco-obstructive lung disease. The major symptoms with which these diseases present are sputum production, chronic cough and acute exacerbations of the condition. The mucus adheres to the lung parenchyma causing airway obstruction and hyperinflation. In this article, we will see how muco-obstructive lung diseases affect the normal physiology of the respiratory system and how is it different from other obstructive and restrictive lung diseases. We will individually look into all the four conditions that come under the category of muco-obstructive lung diseases.
PubMed: 37954759
DOI: 10.7759/cureus.46866 -
Arquivos de Neuro-psiquiatria Nov 2023Parkinson's disease (PD) may progressively reduce the upper limb's functionality. Currently, there is no standardized upper limb functional capacity assessment in PD...
BACKGROUND
Parkinson's disease (PD) may progressively reduce the upper limb's functionality. Currently, there is no standardized upper limb functional capacity assessment in PD in the rehabilitation field.
OBJECTIVE
To identify specific outcome measurements to assess upper limbs in PD and access functional capacity.
METHODS
We systematically reviewed and analyzed the literature in English published from August/2012 to August/2022 according to PRISMA. The following keywords were used in our search: "upper limbs" OR "upper extremity" and "Parkinson's disease." Two researchers searched independently, including studies accordingly to our inclusion and exclusion criteria. Registered at PROSPERO CRD42021254486.
RESULTS
We found 797 studies, and 50 were included in this review ( = 2.239 participants in H&Y stage 1-4). The most common upper limbs outcome measures found in the studies were: (i) UPDRS-III and MDS-UPDRS to assess the severity and progression of PD motor symptoms (tremor, bradykinesia, and rigidity) (ii) Nine Hole Peg Test and Purdue Pegboard Test to assess manual dexterity; (iii) Spiral test and Funnel test to provoke and assess freezing of upper limbs; (iv) Technology assessment such as wearables sensors, apps, and other device were also found.
CONCLUSION
We found evidence to support upper limb impairments assessments in PD. However, there is still a large shortage of specific tests to assess the functional capacity of the upper limbs. The upper limbs' functional capacity is insufficiently investigated during the clinical and rehabilitation examination due to a lack of specific outcome measures to assess functionality.
Topics: Humans; Parkinson Disease; Upper Extremity; Movement; Hypokinesia; Mental Status and Dementia Tests
PubMed: 37899049
DOI: 10.1055/s-0043-1772769 -
Complementary Medicine Research 2024With the increasing prevalence of Tourette syndrome (TS), the search for alternative therapy for TS is a growing public concern. In recent years, a growing number of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
With the increasing prevalence of Tourette syndrome (TS), the search for alternative therapy for TS is a growing public concern. In recent years, a growing number of randomized controlled trials (RCTs) have revealed the value of acupuncture combined with herbal medicine for the treatment of TS; however, its holistic efficacy and safety remains unclear. This study aimed to evaluate the efficacy and safety of acupuncture combined with herbal medicine and to provide preliminary evidence for clinical practice.
METHODS
Eight databases were searched from their establishment to November 27, 2022, to collect RCTs of acupuncture combined with herbal medicine for TS treatment. Two researchers independently completed the study screening, data extraction, and risk of bias assessment by using NoteExpress, Excel, and Cochrane Risk of Bias Tool 2.0 (RoB 2.0). Stata 15.0 software was applied to conduct meta-analysis.
RESULTS
A total of 1,400 participants in 18 RCTs were included. Compared with the Western medicine, acupuncture combined with herbal medicine had better curative effect in the field of effective rate (risk ratio [RR] = 1.18, 95% CI: [1.12, 1.23], p < 0.05, I2 = 0%), Yale Global Tic Severity Scale (YGTSS) total score (mean difference [MD] = -3.91, 95% CI: [-5.49, -2.33], p < 0.05, I2 = 96.4%), TCM syndrome total score (MD = -2.42, 95% CI: [-3.71, -1.13], p < 0.05, I2 = 87.1%), and serum IgE negative rate (RR = 3.41, 95% CI: [1.69, 6.87], p < 0.05, I2 = 0%). Furthermore, acupuncture combined with herbal medicine reduced the adverse reaction rate (RR = 0.20, 95% CI: [0.14, 0.30], p < 0.05, I2 = 0%) and the recurrence rate (RR = 0.27, 95% CI: [0.13, 0.52], p < 0.05, I2 = 0%).
CONCLUSION
This study demonstrated the efficacy and safety of acupuncture combined with herbal medicine, which is probably a better alternative therapy for TS. However, the small number, low quality, and potential bias of the included studies caused the limitations of our results. More high-quality RCTs are required to provide supplementary evidence in the future.
UNLABELLED
Hintergrund Mit der steigenden Prävalenz des Tourette-Syndroms (TS) ist die Suche nach alternativen Therapien für TS zunehmend zu einer Angelegenheit von öffentlichem Interesse geworden. In den vergangenen Jahren zeigte eine immer größer werdende Zahl randomisierter, kontrollierter Studien den Nutzen der Akupunktur in Kombination mit Heilkräutern; ihre ganzheitliche Wirksamkeit und Sicherheit ist jedoch weiterhin nicht klar. Mit dieser Studie sollten die Wirksamkeit und Sicherheit von Akupunktur in Kombination mit Heilkräutern beurteilt und erste Belege für die klinische Praxis gewonnen werden.Methoden Acht (8) Datenbanken wurden ab ihrer Einrichtung bis zum 27. November 2022 nach randomisierten kontrollierten Studien (RCTs) über Akupunktur in Kombination mit Heilkräutern zur Behandlung von TS durchsucht. Das Screening der Studien, die Datenextraktion und die Bewertung des Verzerrungsrisikos wurden von zwei unabhängigen Forschern mit Hilfe von NoteExpress, Excel und dem Cochrane Risk of Bias Tool 2.0 (RoB 2.0) durchgeführt. Die Metaanalyse erfolgte mit der Software Stata 15.0.Ergebnisse Insgesamt wurden 1400 Teilnehmer in 18 RCTs eingeschlossen. Im Vergleich zur westlichen Medizin (WM) hatte Akupunktur in Kombination mit Heilkräutern eine bessere kurative Wirkung in Bezug auf die Wirksamkeitsrate (RR = 1,18, 95%-KI [1,12, 1,23],p < 0,05, I2 = 0%), den Gesamtscore der Yale Global Tic Severity Scale (YGTSS) (MD = -3,91, 95%-KI [-5,49, -2,33],p < 0,05, I2 = 96,4%), den TCM-Syndrom-Gesamtscore (MD = -2,42, 95%-KI [-3,71, -1,13],p < 0,05, I2 = 87,1%) und die Serum-IgE-Negativrate (RR = 3,41, 95%-KI [1,69, 6,87],p <0,05, I2 = 0 %). Darüber hinaus verringerte Akupunktur in Kombination mit Heilkräutern die Nebenwirkungsrate (RR = 0,20, 95%-KI [0,14, 0,30],p < 0,05, I2 = 0%) sowie die Rezidivrate (RR = 0,27, 95%-KI [0,13, 0,52],p < 0,05, I2 = 0%).Schlussfolgerung Diese Studie belegt die Wirksamkeit und Sicherheit der Akupunktur in Kombination mit Heilkräutern, die wahrscheinlich eine bessere alternative Therapie für TS darstellt. Unsere Ergebnisse werden allerdings durch die geringe Zahl, die niedrige Qualität und die potenzielle Verzerrung der eingeschlossenen Studien eingeschränkt. Zukünftig sind weitere hochwertige RCTs erforderlich, die zusätzliche Belege liefern.Topics: Child; Humans; Adolescent; Tourette Syndrome; Tics; Plants, Medicinal; Acupuncture Therapy; Plant Extracts; Immunoglobulin E
PubMed: 37844564
DOI: 10.1159/000534115 -
The Neurologist Mar 2024Limb-shaking is one of the transient ischemic attacks (TIA) 'chameleons.' This literature review aims to evaluate the clinical, epidemiological profile, pathologic...
BACKGROUND
Limb-shaking is one of the transient ischemic attacks (TIA) 'chameleons.' This literature review aims to evaluate the clinical, epidemiological profile, pathologic mechanisms, and management of limb-shaking TIA.
REVIEW SUMMARY
Relevant reports in Medline's (PubMed) database were identified and assessed by 2 reviewers without language restriction from 1985 to 2022. A total of 82 reports containing 161 cases that developed limb-shaking TIA were reported. The mean and median age were 61.36 (SD: 15.29) and 62 years (range: 4-93 y). Most of the individuals affected were males (64.34%). Limb-shaking was reported as unilateral in 83.33% of the patients. Limb-shaking presented with other neurological deficits in 44.33% of the individuals, in which the most common concurrent neurological deficit was the weakness of at least 1 limb. A recurrence of the "shaking" phenomenon was observed in 83 individuals. A trigger of limb-shaking was reported in 69 cases, and the most common was changing body position. The internal carotid artery was the most frequent vessel involved in limb-shaking. A chronically occluded internal carotid artery was observed in 42 individuals. Hypertension was the most common comorbidity. The management was conservative in 42.30% of the cases. The most frequent misdiagnoses were seizures. A full recovery was achieved in 56.60% of the individuals.
CONCLUSIONS
Limb-shaking TIA could be defined as involuntary, rhythmic, brief (<5 min), recurrent, jerky movement usually precipitated by activities that may reduce cerebral blood flow. The "shaking" phenomenon was primarily described as a manifestation of symptomatic complete internal carotid artery obstruction.
Topics: Humans; Carotid Artery Diseases; Carotid Artery, Internal; Extremities; Ischemic Attack, Transient; Tremor
PubMed: 37839077
DOI: 10.1097/NRL.0000000000000526 -
Journal of the Academy of... 2024Cholinergic discontinuation symptoms, also known as "cholinergic rebound," from abrupt clozapine discontinuation are characterized by a range of somatic and psychiatric... (Review)
Review
BACKGROUND
Cholinergic discontinuation symptoms, also known as "cholinergic rebound," from abrupt clozapine discontinuation are characterized by a range of somatic and psychiatric symptoms.
OBJECTIVE
The objective of this study was to describe the clinical features and management options for clozapine withdrawal-associated cholinergic rebound syndrome (henceforth referred to as CWCRS) and present an illustrative case report.
METHODS
Based on a literature search of the databases PubMed, OVID Medline, and Embase as well as reviewing reference lists of relevant past reviews, we carried out a systematic review of case reports on the management of CWCRS from 1946 to 2023.
RESULTS
We identified 10 previously published articles on the clinical management of CWCRS, with a total of 18 patients (6 female, 12 male) with an average age of 43 years (standard deviation 14). Half of the patients had a history of tardive dyskinesia. The mean dose of clozapine before discontinuation was 351 mg/day, with duration of clozapine treatment ranging from 3 weeks to 9 years. Clozapine was the most effective treatment, followed by benztropine.
CONCLUSIONS
Given the small number of cases and the nonexperimental nature of the available studies, this review could not provide reliable data to guide management of CWCRS. The findings, however, suggest that clozapine may be more effective than other commonly used treatment options. With the high rates of discontinuation among patients on clozapine, there is a pressing need for further research into the epidemiology, natural history, and management of clozapine withdrawal syndromes.
Topics: Humans; Male; Female; Adult; Clozapine; Antipsychotic Agents; Schizophrenia; Cholinergic Agents; Antisocial Personality Disorder; Substance Withdrawal Syndrome; Autonomic Nervous System Diseases
PubMed: 37838358
DOI: 10.1016/j.jaclp.2023.10.001 -
Neurological Sciences : Official... Feb 2024Dystonia is a condition that affects the ability to control the movement and function of the body's muscles. It can cause not only physical problems, but also mental... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dystonia is a condition that affects the ability to control the movement and function of the body's muscles. It can cause not only physical problems, but also mental problems, resulting in impaired health-related quality of life (HRQoL). However, the effect of deep brain stimulation on quality of life in acquired dystonia remains unclear.
METHODS
We conducted a systematic literature review from January 2000 to October 2022,determined the eligible studies, and performed a meta-analysis of HRQoL outcomes based on the Short-Form Health Survey-36 (SF-36) after DBS to evaluate the effects of DBS on physical and mental QoL.
RESULTS
A total of 14 studies met the inclusion criteria and were systematically reviewed. A comprehensive meta-analysis was performed for 9 studies that reported physical and psychological data or physical component summary (PCS), or mental component summary (MCS) for SF-36. The mean (SD) age at DBS implantation was 34.29 (10.3) years, and the follow-up period after implantation was 2.21 (2.80) years. The random effects model meta-analysis revealed that both physical and mental domains of the SF-36 improved following DBS. There was no statistically significant difference between the physical domains (effect size=1.34; p<0.0001) and the mental domains (effect size=1.38; p<0.0001).
CONCLUSION
This is the first meta-analysis that demonstrates significant benefits in HRQoL following DBS in patients with acquired dystonia. There were significant improvements in both physical QoL and mental QoL.
Topics: Humans; Dystonia; Quality of Life; Deep Brain Stimulation; Dystonic Disorders; Health Surveys; Treatment Outcome
PubMed: 37816931
DOI: 10.1007/s10072-023-07106-y -
Tremor and Other Hyperkinetic Movements... 2023Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this... (Review)
Review
BACKGROUND
Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.
METHODS
A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.
RESULTS
The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.
DISCUSSION
This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.
Topics: Humans; Chorea; Athetosis; Metabolism, Inborn Errors; Movement Disorders; Dyskinesias
PubMed: 37810989
DOI: 10.5334/tohm.801 -
Journal of the Academy of... 2023Tacrolimus is the most common immunosuppressant used after transplant, yet it can result in moderate-to-severe neurotoxicity in up to 32% of patients. Signs of... (Review)
Review
BACKGROUND
Tacrolimus is the most common immunosuppressant used after transplant, yet it can result in moderate-to-severe neurotoxicity in up to 32% of patients. Signs of neurotoxicity can vary from mild (tremor or headache) to severe (posterior reversible encephalopathy syndrome or psychosis. Prompt recognition and management is needed to lead to symptom resolution.
OBJECTIVE
The objective of this study is to describe the clinical presentation of tacrolimus-induced psychosis, a type of tacrolimus-inducted neurotoxicity, and distinguish it from other central nervous system disturbances, including delirium.
METHODS AND RESULTS
We present a case of delayed onset tacrolimus-induced psychosis with focus on unique clinical features and management strategies. We conducted a systematic review of cases of tacrolimus-induced psychosis using the PubMed database and included 15 manuscripts in our review.
CONCLUSIONS
Tacrolimus-induced psychosis is a unique presentation of tacrolimus-related neurotoxicity and can present without the cardinal symptoms of delirium. The data on isolated psychotic symptoms are limited with current literature focusing on more common presentations of tacrolimus-induced neurotoxicity, such as delirium and tremor. Development of psychosis can occur later in the treatment course and at normal tacrolimus serum levels. It can improve with antipsychotic therapies, but primary management should include cross-titration to an alternate immunosuppressant regimen.
Topics: Humans; Tacrolimus; Tremor; Posterior Leukoencephalopathy Syndrome; Immunosuppressive Agents; Psychotic Disorders; Neurotoxicity Syndromes; Lung Transplantation; Delirium
PubMed: 37778461
DOI: 10.1016/j.jaclp.2023.09.002