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CNS Neuroscience & Therapeutics Mar 2024Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia....
BACKGROUND
Mitochondrial complex III (CIII) deficiency is an autosomal recessive disease characterized by symptoms such as ataxia, cognitive dysfunction, and spastic paraplegia. Multiple genes are associated with complex III defects. Among them, the mutation of TTC19 is a rare subtype.
METHODS
We screened a Chinese boy with weakness of limbs and his non-consanguineous parents by whole exome sequencing and targeted sequencing.
RESULTS
We report a Chinese boy diagnosed with mitochondrial complex III defect type 2 carrying a homozygous variant (c.719-732del, p.Leu240Serfs*17) of the TTC19 gene. According to the genotype analysis of his family members, this is an autosomal recessive inheritance. We provide his clinical manifestation.
CONCLUSIONS
A new type of TTC19 mutation (c.719-732del, p.Leu240Serfs*17) was found, which enriched the TTC19 gene mutation spectrum and provided new data for elucidating the pathogenesis of CIII-deficient diseases.
Topics: Male; Humans; Electron Transport Complex III; Membrane Proteins; Mutation; Peripheral Nervous System Diseases; Movement Disorders; Pedigree; Mitochondrial Diseases
PubMed: 37927170
DOI: 10.1111/cns.14425 -
Journal of the Neurological Sciences Nov 2023To review the optimal diagnostic cut-off of ultrasonographic optic nerve sheath diameter (ONSD) in the diagnosis of increased intracranial pressure (IICP). (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To review the optimal diagnostic cut-off of ultrasonographic optic nerve sheath diameter (ONSD) in the diagnosis of increased intracranial pressure (IICP).
METHODS
A systematic search was conducted of available studies assessing the use of ONSD ultrasonography in patients with suspected IICP. Meta-analysis of diagnostic accuracy of ultrasonographic ONSD was performed using a bivariate model of random effects to summarize pooled sensitivity and specificity. A summary receiver operating characteristics (SROC) curve was plotted. Accuracy measures associated with ONSD cut-off and predefined covariates were investigated with meta-regression.
RESULTS
We included 38 studies, comprising a total of 2824 patients. A total of 21 studies used invasive techniques as a reference standard estimation of IICP and meta-analysis revealed a pooled sensitivity of 0.90 (95% CI 0.85-0.93) and specificity of 0.87 (95% CI 0.80-0.91). Optimal ONSD cut-off values ranged between 4.1 mm and 7.2 mm. Meta-regression analysis showed that ONSD cut-off values of 5.6 to 6.3 mm were associated with higher pooled specificity compared to cut-off values of 4.9 to 5.5 mm (0.93, 95% CI 0.85-0.97 vs. 0.78, 95% CI 0.65-0.87; p = 0.036).
CONCLUSIONS
Ultrasonography of ONSD shows a high diagnostic accuracy for IICP, with high pooled sensitivity and specificity. Additionally, larger cut-off values seem to significantly increase specificity without compromising sensitivity, which support their use as optimal ONSD cut-off. The overall high sensitivity of ultrasonographic ONSD suggests its usefulness as a screening tool for IIC, which may provide an estimate of when invasive methods are warranted.
CLINICAL RELEVANCE
ONSD ultrasonography is a fast and cost-effective method with a high diagnostic accuracy to detect IICP. The optimum ONSD cut-off hasn't been established before, but we suggest the 5.6 to 6.3 mm range as the best for the diagnosis of IICP.
Topics: Humans; Intracranial Pressure; Optic Nerve; Intracranial Hypertension; Sensitivity and Specificity; Ultrasonography
PubMed: 37925899
DOI: 10.1016/j.jns.2023.120853 -
Annals of Medicine and Surgery (2012) Nov 2023Guillain-Barré syndrome (GBS) is an acute inflammatory disease of the peripheral nervous system, rarely following Varicella-zoster virus (VZV) infection. The authors...
BACKGROUND
Guillain-Barré syndrome (GBS) is an acute inflammatory disease of the peripheral nervous system, rarely following Varicella-zoster virus (VZV) infection. The authors aimed to review all cases in the English literature of GBS that occurred after primary VZV infection to investigate the clinical features, diagnostic workup, treatment, and outcome of patients with GBS following VZV.
METHODS
PubMed, Scopus, and Embase are systematically searched from their inception to 9 May 2022 to collect all cases of GBS following varicella-zoster infection. Patients with GBS following VZV reactivation were excluded.
RESULTS
Among the 29 patients, the age of presentation ranged from 1.5 to 70 years with a median of 37, with a yield for males (81.5%). Most of the patients presented with sensory-motor symptoms (65.4%) and suffered from tetraparesis (81.5%). Cranial nerve palsy was present in (84%) of patients, and the seventh cranial nerve was the most commonly affected nerve (75%). Lumbar puncture showed albuminocytological dissociation in (80%) of patients. The dominant nerve conduction study subtype was acute inflammatory demyelinating polyneuropathy (65.3%). in addition, the magnetic resonance imaging showed pathological findings in only (47.5%) of the patients. Intravenous immunoglobulin is now the drug of choice for all cases of GBS following VZV infection.
CONCLUSION
GBS is a rare neurological complication of primary infection with VZV. However, the authors should suspect this syndrome when a patient develops ascending weakness, regardless of the absence of areflexia and albuminocytological dissociation. Drug therapy with IIVIg ensures a gradual improvement for the patient over a period of weeks to several months.
PubMed: 37915710
DOI: 10.1097/MS9.0000000000001370 -
The International Journal of... Mar 2024The discovery of effective treatments for major depressive disorder (MDD) may help target different brain pathways. Invasive vagus nerve stimulation (VNS) is an...
BACKGROUND
The discovery of effective treatments for major depressive disorder (MDD) may help target different brain pathways. Invasive vagus nerve stimulation (VNS) is an effective neuromodulation technique for the treatment of MDD; however, the effectiveness of the noninvasive technique, transauricular VNS (taVNS), remains unknown. Moreover, a mechanistic understanding of the neural effects behind its biological and therapeutic effects is lacking. This review aimed to evaluate the clinical evidence and the neural and anti-inflammatory effects of taVNS in MDD.
METHODS
Two searches were conducted using a systematic search strategy reviewed the clinical efficacy and neural connectivity of taVNS in MDD in humans and evaluated the changes in inflammatory markers after taVNS in humans or animal models of depression. A risk of bias assessment was performed in all human studies.
RESULTS
Only 5 studies evaluated the effects of taVNS in patients with depression. Although the studies demonstrated the efficacy of taVNS in treating depression, they used heterogeneous methodologies and limited data, thus preventing the conduct of pooled quantitative analyses. Pooled analysis could not be performed for studies that investigated the modulation of connectivity between brain areas; of the 6 publications, 5 were based on the same experiment. The animal studies that analyzed the presence of inflammatory markers showed a reduction in the level of pro-inflammatory cytokines or receptor expression.
CONCLUSIONS
Data on the clinical efficacy of taVNS in the treatment of MDD are limited. Although these studies showed positive results, no conclusions can be drawn regarding this topic considering the heterogeneity of these studies, as in the case of functional connectivity studies. Based on animal studies, the application of taVNS causes a decrease in the level of inflammatory factors in different parts of the brain, which also regulate the immune system. Therefore, further studies are needed to understand the effects of taVNS in patients with MDD.
Topics: Animals; Humans; Depressive Disorder, Major; Vagus Nerve Stimulation; Brain; Treatment Outcome; Vagus Nerve
PubMed: 37870480
DOI: 10.1093/ijnp/pyad058 -
Medicina Oral, Patologia Oral Y Cirugia... Mar 2024Segmental surgical resection is a frequently indicated procedure to treat aggressive mandibular tumors. One of the most important complications derived from this...
BACKGROUND
Segmental surgical resection is a frequently indicated procedure to treat aggressive mandibular tumors. One of the most important complications derived from this technique is permanent paresthesia of the inferior alveolar nerve (IAN), which significantly affects the quality of life of patients who experience it. This could be avoided through maneuvers that preserve the IAN. The objective of this paper is to review the main techniques for IAN preservation and to present 2 cases with the technique used by the author.
MATERIAL AND METHODS
A systematic review was performed according to the PRISMA guidelines, apropos of two clinical cases reported in this study. The MEDLINE/PubMed and Scopus databases were searched. Several variables were considered and are presented in detail in the form of tables and figures. In addition, 2 case reports with NAI preservation techniques are presented.
RESULTS
13 articles were finally obtained for analysis. 127 patients were evaluated, reporting mandibular resections associated with various pathologies. Various surgical techniques were used, all with the same goal of maintaining the IAN. In most of the patients, the maintenance of sensitivity was achieved, which was verified with different methods.
CONCLUSIONS
Preservation of the IAN in maxillofacial surgical procedures where surgical resection of the mandibular bone has been performed is an alternative that has demonstrated successful results in terms of reducing postoperative sequelae and is currently positioned as a necessary and feasible procedure.
Topics: Humans; Quality of Life; Mandible; Mandibular Nerve; Mandibular Neoplasms; Tooth Extraction
PubMed: 37823290
DOI: 10.4317/medoral.26239 -
Integrative Cancer Therapies 2023This systematic review and meta-analysis aimed to determine whether chemotherapy-induced peripheral neuropathy (CIPN) affects the risk of falls and physical function in... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
This systematic review and meta-analysis aimed to determine whether chemotherapy-induced peripheral neuropathy (CIPN) affects the risk of falls and physical function in patients with cancer.
METHODS
A literature search was conducted in the CINAHL, Scopus, and PubMed databases for articles published from January 1950 to April 2022. Seven review authors retrieved studies using predetermined eligibility criteria, extracted the data, and evaluated the quality.
RESULTS
Nine studies were included in the analysis. Patients with CIPN had a significantly higher risk of falls than those without CIPN (risk ratio = 1.38, 95% confidence interval [CI] =1.18-1.62). Patients with CIPN had lower grip strength (standardized mean difference [SMD] =-0.42, 95% CIs = -0.70 to -0.14, = .003), longer chair stand time (SMD = 0.56, 95% CIs = -0.01 to 1.17, = .05), worse timed up and go test time (SMD = 0.79, 95% CIs = 0.41 to 1.17, < .0001), and lower mean Fullerton Advanced Balance scale score (SMD = -0.81, 95% CIs = -1.27 to -0.36, = .005) than patients without CIPN. There were no significant differences in gait speed ( = .38) or Activities-specific Balance Confidence Scale score ( = .09) between patients with and without CIPN.
CONCLUSIONS
This systematic review and meta-analysis demonstrated that patients with CIPN are prone to falls and impaired balance function and muscle strength.
Topics: Humans; Antineoplastic Agents; Postural Balance; Time and Motion Studies; Neoplasms; Peripheral Nervous System Diseases
PubMed: 37822238
DOI: 10.1177/15347354231185110 -
Frontiers in Immunology 2023Sepsis is a systemic inflammation caused by a maladjusted host response to infection. In severe cases, it can cause multiple organ dysfunction syndrome (MODS) and even... (Review)
Review
Sepsis is a systemic inflammation caused by a maladjusted host response to infection. In severe cases, it can cause multiple organ dysfunction syndrome (MODS) and even endanger life. Acupuncture is widely accepted and applied in the treatment of sepsis, and breakthroughs have been made regarding its mechanism of action in recent years. In this review, we systematically discuss the current clinical applications of acupuncture in the treatment of sepsis and focus on the mechanisms of acupuncture in animal models of systemic inflammation. In clinical research, acupuncture can not only effectively inhibit excessive inflammatory reactions but also improve the immunosuppressive state of patients with sepsis, thus maintaining immune homeostasis. Mechanistically, a change in the acupoint microenvironment is the initial response link for acupuncture to take effect, whereas PROKR2 neurons, high-threshold thin nerve fibres, cannabinoid CB2 receptor (CB2R) activation, and Ca influx are the key material bases. The cholinergic anti-inflammatory pathway of the vagus nervous system, the adrenal dopamine anti-inflammatory pathway, and the sympathetic nervous system are key to the transmission of acupuncture information and the inhibition of systemic inflammation. In MODS, acupuncture protects against septic organ damage by inhibiting excessive inflammatory reactions, resisting oxidative stress, protecting mitochondrial function, and reducing apoptosis and tissue or organ damage.
Topics: Animals; Humans; Sepsis; Acupuncture Therapy; Inflammation; Vagus Nerve
PubMed: 37753078
DOI: 10.3389/fimmu.2023.1242640 -
Journal of Neurology Dec 2023Autonomic dysfunctions are prevalent in several cerebellar disorders, but they have not been systematically investigated in spinocerebellar ataxias (SCAs). Studies... (Review)
Review
BACKGROUND
Autonomic dysfunctions are prevalent in several cerebellar disorders, but they have not been systematically investigated in spinocerebellar ataxias (SCAs). Studies investigating autonomic deficits in SCAs are fragmented, with each one focusing on different autonomic dysfunctions and different SCA subtypes.
METHODS
Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement, we conducted a systematic review of the literature to assess the presence of autonomic dysfunctions in various SCAs. PubMed served as the primary database, and the Rayyan web application was employed for study screening.
RESULTS
We identified 46 articles investigating at least one autonomic function in patients with SCA. The results were analyzed and categorized based on the genetic subtype of SCA, thereby characterizing the specific autonomic deficits associated with each subtype.
CONCLUSION
This review confirms the presence of autonomic dysfunctions in various genetic subtypes of SCA, underscoring the cerebellum's role in the autonomic nervous system (ANS). It also emphasizes the importance of investigating these functions in clinical practice.
Topics: Humans; Spinocerebellar Ataxias; Cerebellum; Primary Dysautonomias; Autonomic Nervous System
PubMed: 37749264
DOI: 10.1007/s00415-023-11993-8 -
Brain Research Bulletin Oct 2023Gait analysis could be used in animal models as an indicator of sensory ataxia due to chemotherapy-induced peripheral neurotoxicity (CIPN). Over the years, gait analysis... (Review)
Review
Gait analysis could be used in animal models as an indicator of sensory ataxia due to chemotherapy-induced peripheral neurotoxicity (CIPN). Over the years, gait analysis in in vivo studies has evolved from simple observations carried out by a trained operator to computerised systems with machine learning that allow the quantification of any variable of interest and the establishment of algorithms for behavioural classification. However, there is not a consensus on gait analysis use in CIPN animal models; therefore, we carried out a systematic review. Of 987 potentially relevant studies, 14 were included, in which different methods were analysed (observation, footprint and CatWalk™). We presented the state-of-the-art of possible approaches to analyse sensory ataxia in rodent models, addressing advantages and disadvantages of different methods available. Semi-automated methods may be of interest when preventive or therapeutic strategies are evaluated, also considering their methodological simplicity and automaticity; up to now, only CatWalk™ analysis has been tested. Future studies should expect that CIPN-affected animals tend to reduce hind paw support due to pain, allodynia or loss of sensation, and an increase in swing phase could or should be observed. Few available studies documented these impairments at the last time point, and only appeared later on respect to other earlier signs of CIPN (such as altered neurophysiological findings). For that reason, gait impairment could be interpreted as late repercussions of loss of sensory.
Topics: Animals; Peripheral Nervous System Diseases; Gait Analysis; Rodentia; Neurotoxicity Syndromes; Antineoplastic Agents; Ataxia
PubMed: 37748696
DOI: 10.1016/j.brainresbull.2023.110769 -
Brazilian Journal of Anesthesiology... 2024The costoclavicular approach to brachial plexus block may have a more favorable anatomy than the classic infraclavicular approach. However, there are conflicting results... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The costoclavicular approach to brachial plexus block may have a more favorable anatomy than the classic infraclavicular approach. However, there are conflicting results in the literature regarding the comparative effectiveness of these two techniques.
METHODS
We systematically searched for Randomized Controlled Trials (RCTs) comparing costoclavicular with infraclavicular brachial plexus blocks for upper extremity surgeries on MEDLINE, EMBASE, and Ovid. The outcomes of interest were sensory and motor block onset times, performance times, block failure, and complication rate. We performed statistical analyses using RevMan 5.4 and assessed heterogeneity using the Cochran Q test and I statistics. We appraised the risk of bias according to Cochrane's Risk of Bias 2 tool.
RESULTS
We included 5 RCTs and 374 patients, of whom 189 (50.5%) were randomized to undergo costoclavicular block. We found no statistically significant differences between the two techniques regarding sensory block onset time in minutes (Mean Difference [MD = -0.39 min]; 95% CI -2.46 to 1.68 min; p = 0.71); motor block onset time in minutes (MD = -0.34 min; 95% CI -0.90 to 0.22 min; p = 0.23); performance time in minutes (MD = -0.12 min; 95% CI -0.89 to 0.64 min; p = 0.75); incidence of block failure (RR = 1.59; 95% CI 0.63 to 3.39; p = 0.63); and incidence of complications (RR = 0.60; 95% CI 0.20 to 1.84; p = 0.37).
CONCLUSION
This meta-analysis suggests that the CCV block may exhibit similar sensory and motor onset times when compared to the classic ICV approach in adults undergoing distal upper extremity surgery, with comparable rates of block failure and complications.
Topics: Adult; Humans; Brachial Plexus Block; Brachial Plexus; Upper Extremity; Ultrasonography; Ultrasonography, Interventional; Anesthetics, Local; Randomized Controlled Trials as Topic
PubMed: 37748644
DOI: 10.1016/j.bjane.2023.09.004