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Amyotrophic Lateral Sclerosis &... Feb 2024Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with upper and lower motor neuron degeneration and necrosis, characterized by... (Review)
Review
OBJECTIVE
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with upper and lower motor neuron degeneration and necrosis, characterized by progressive muscle weakness, atrophy, and paralysis. The mutation-associated ALS has been classified as ALS6. We reported a case of ALS6 with de novo mutation and investigated retrospectively the characteristics of cases with mutation.
METHODS
We reported a male patient with a new heterozygous variant of the gene and comprehensively reviewed 173 ALS cases with mutation. The literature was reviewed from the PubMed MEDLINE electronic database (https://www.ncbi.nlm.nih.gov/pubmed) using "Amyotrophic Lateral Sclerosis and mutation" or " mutation" as key words from 1 January 2009 to 1 January 2022.
RESULTS
We report a case of ALS6 with a new mutation point (c.1225-1227delGGA) and comprehensively review 173 ALS cases with mutation. Though ALS6 is all with mutation, it is still a highly heterogenous subtype. The average onset age of ALS6 is 35.2 ± 1.3 years, which is much lower than the average onset age of ALS (60 years old). Juvenile FUS mutations have an aggressive progression of disease, with an average time from onset to death or tracheostomy of 18.2 ± 0.5 months. gene has the characteristics of early onset, faster progress, and shorter survival, especially in deletion mutation p.G504Wfs *12 and missense mutation of p.P525L.
CONCLUSIONS
ALS6 is a highly heterogenous subtype. Our study could allow clinicians to better understand the non-ALS typical symptoms, phenotypes, and pathophysiology of ALS6.
Topics: Humans; Male; Amyotrophic Lateral Sclerosis; Mutation; Mutation, Missense; Neurodegenerative Diseases; Retrospective Studies; RNA-Binding Protein FUS
PubMed: 37926865
DOI: 10.1080/21678421.2023.2272170 -
International Journal of Surgery... Jan 2024Emerging remote-access surgical methods are utilized to treat differentiated thyroid cancer. The study aimed to compare the surgical integrity, safety, efficacy, and... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Emerging remote-access surgical methods are utilized to treat differentiated thyroid cancer. The study aimed to compare the surgical integrity, safety, efficacy, and postoperative experience of patients among common surgical methods.
METHODS
The PubMed, Medline, Cochrane Library, Web of Science, and EMBASE databases were searched from their inception until March 2023. Pairwise meta-analysis and Bayesian network meta-analysis were performed. The surface under the cumulative ranking curve (SUCRA) was used to illuminate the probability that each method would be the best for each outcome.
RESULTS
Thirty-two studies comprising 7042 patients were included. Robotic bilateral axillo-breast approach (RBABA) and robotic gasless transaxillary approach (RGAA) retrieved fewer lymph nodes (LNs) than open thyroidectomy (OT). RBABA showed a significantly lower permanent recurrent laryngeal nerve (RLN) palsy rate than OT. According to SUCRA values, endoscopic transoral approach (EOA) ranked the highest in retrieved LNs (0.84), the proportion of stimulated serum thyroglobulin less than 1.0 ng/ml (0.77), and the pain score (0.77). Endoscopic bilateral areola approach (EBAA) ranked the highest in the transient RLN palsy rate (0.72). The endoscopic gasless transaxillary approach (EGAA) ranked the highest in the transient hypoparathyroidism rate (0.78). RBABA ranked the highest in the rate of permanent RLN palsy (0.94) and hypoparathyroidism (0.77). OT ranked the highest in operative time (0.92).
CONCLUSIONS
Each surgical method of total thyroidectomy has benefits and limitations. EOA performed the best in maintaining surgical integrality and reducing the pain score, while taking a long operative time. Generally, RBABA showed the best advantage in protecting parathyroid glands and RLN but with the longest operative time. OT had the best advantage in operative time. Therefore, OT and EOA are ideal methods for patients with a higher risk of central LN metastasis. RBABA and EOA may not be suitable for elderly patients or those with high anesthesia risk.
Topics: Humans; Aged; Thyroidectomy; Bayes Theorem; Network Meta-Analysis; Thyroid Neoplasms; Vocal Cord Paralysis; Hypoparathyroidism; Adenocarcinoma; Pain; Retrospective Studies
PubMed: 37916941
DOI: 10.1097/JS9.0000000000000819 -
Journal of Neuro-oncology Oct 2023To perform a systematic review of literature specific to single-fraction stereotactic radiosurgery (SRS) for large vestibular schwannomas (VS), maximum... (Review)
Review
Single-fraction radiosurgery outcomes for large vestibular schwannomas in the upfront or post-surgical setting: a systematic review and International Stereotactic Radiosurgery Society (ISRS) Practice Guidelines.
PURPOSE
To perform a systematic review of literature specific to single-fraction stereotactic radiosurgery (SRS) for large vestibular schwannomas (VS), maximum diameter ≥ 2.5 cm and/or classified as Koos Grade IV, and to present consensus recommendations on behalf of the International Stereotactic Radiosurgery Society (ISRS).
METHODS
The Medline and Embase databases were used to apply the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) approach. We considered eligible prospective and retrospective studies, written in the English language, reporting treatment outcomes for large VS; SRS for large post-operative tumors were analyzed in aggregate and separately.
RESULTS
19 of the 229 studies initially identified met the final inclusion criteria. Overall crude rate of tumor control was 89% (93.7% with no prior surgery vs 87.7% with prior surgery). Rates of salvage microsurgical resection, need for shunt, and additional SRS in all series versus those with no prior surgery were 9.6% vs 3.3%, 4.7% vs 6.4% and 1% vs 0.9%, respectively. Rates of facial palsy and hearing preservation in all series versus those with no prior surgery were 1.3% vs 3.4% and 34.2% vs 40.4%, respectively.
CONCLUSIONS
Upfront SRS resulted in high rates of tumor control with acceptable rates of facial palsy and hearing preservation as compared to the results in those series including patients with prior surgery (level C evidence). Therefore, although large VS are considered classic indication for microsurgical resection, upfront SRS can be considered in selected patients and we recommend a prescribed marginal dose from 11 to 13 Gy (level C evidence).
Topics: Humans; Radiosurgery; Retrospective Studies; Neuroma, Acoustic; Prospective Studies; Facial Paralysis; Treatment Outcome; Follow-Up Studies
PubMed: 37843727
DOI: 10.1007/s11060-023-04455-8 -
Journal of Clinical Neuroscience :... Nov 2023To compare the efficacy and safety of full endoscopic or endoscope-assisted microvascular decompression (E-MVD) and microscopic microvascular decompression (M-MVD) for... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
To compare the efficacy and safety of full endoscopic or endoscope-assisted microvascular decompression (E-MVD) and microscopic microvascular decompression (M-MVD) for primary trigeminal neuralgia (TN).
METHODS
We systematically searched the online database, including PubMed, Embase and Cochrane Library. The search terms used included, but were not limited to, "Trigeminal Neuralgia", "Microvascular Decompression Surgery" and "Endoscope". Postoperative facial pain relief and postoperative complications were considered for meta-analysis. All the outcomes were calculated as odds ratios (ORs) with 95% confidence intervals using R language.
RESULTS
A total of three studies involving 442 (E-MVD [218] versus M-MVD [224]) patients were included for analysis in our study. Postoperative facial pain relief (very much improved or much improved) was no difference between the two groups (OR, 0.95;95% CI, 0.57-1.58; I = 0%; p = 0.83). In addition, the occurrence of some postoperative complications was not statistically different between the two groups, including CSFleak (OR, 1.35;95% CI, 0.16-11.13; I = 0%; p = 0.94), facial paralysis (OR, 0.26;95% CI, 0.03-2.54; I = 0%; p = 0.67), hearing loss (OR, 0.87;95% CI, 0.30-2.55; I = 32%; p = 0.22), facial numbness (OR, 1.03;95% CI, 0.56-1.87; I = 62%; p = 0.10).
CONCLUSIONS
Both endoscopic microvascular decompression and microscopic microvascular decompression for trigeminal neuralgia appear to provide patients with equivalent facial pain relief outcomes. Complication rates were also similar between the groups.
Topics: Humans; Trigeminal Neuralgia; Microvascular Decompression Surgery; Facial Pain; Endoscopy; Face; Postoperative Complications; Treatment Outcome; Retrospective Studies
PubMed: 37776679
DOI: 10.1016/j.jocn.2023.09.009 -
BMC Neurology Sep 2023Miller Fisher syndrome (MFS) is a subtype of Guillain-Barré syndrome (GBS) which is characterized by the three components of ophthalmoplegia, ataxia, and areflexia....
BACKGROUND
Miller Fisher syndrome (MFS) is a subtype of Guillain-Barré syndrome (GBS) which is characterized by the three components of ophthalmoplegia, ataxia, and areflexia. Some studies reported MFS as an adverse effect of the COVID-19 vaccination. We aimed to have a detailed evaluation on demographic, clinical, and para-clinical characteristics of subjects with MFS after receiving COVID-19 vaccines.
MATERIALS AND METHODS
A thorough search strategy was designed, and PubMed, Web of Science, and Embase were searched to find relevant articles. Each screening step was done by twice, and in case of disagreement, another author was consulted. Data on different characteristics of the patients and types of the vaccines were extracted. The risk of bias of the studies was assessed using Joanna Briggs Institute (JBI) tools.
RESULTS
In this study, 15 patients were identified from 15 case studies. The median age of the patients was 64, ranging from 24 to 84 years. Ten patients (66.6%) were men and Pfizer made up 46.7% of the injected vaccines. The median time from vaccination to symptoms onset was 14 days and varied from 7 to 35 days. Furthermore,14 patients had ocular signs, and 78.3% (11/14) of ocular manifestations were bilateral. Among neurological conditions, other than MFS triad, facial weakness or facial nerve palsy was the most frequently reported side effect that was in seven (46.7%) subjects. Intravenous immunoglobulin (IVIg) was the most frequently used treatment (13/15, 86.7%). Six patients received 0.4 g/kg and the four had 2 g/kg. Patients stayed at the hospital from five to 51 days. No fatal outcomes were reported. Finally, 40.0% (4/15) of patients completely recovered, and the rest experienced improvement.
CONCLUSION
MFS after COVID-19 immunization has favorable outcomes and good prognosis. However, long interval from disease presentation to treatment in some studies indicates that more attention should be paid to MFS as the adverse effect of the vaccination. Due to the challenging diagnosis, MFS must be considered in list of the differential diagnosis in patients with a history of recent COVID-19 vaccination and any of the ocular complaints, ataxia, or loss of reflexes, specially for male patients in their 60s and 70s.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Male; Middle Aged; Young Adult; Ataxia; COVID-19; COVID-19 Vaccines; Drug-Related Side Effects and Adverse Reactions; Facial Paralysis; Miller Fisher Syndrome; Prognosis; Vaccination
PubMed: 37735648
DOI: 10.1186/s12883-023-03375-4 -
European Journal of Physical and... Aug 2023Muscle changes after stroke cannot be explained solely on the basis of corticospinal bundle damage. Muscle-specific changes contribute to limited functional recovery but...
INTRODUCTION
Muscle changes after stroke cannot be explained solely on the basis of corticospinal bundle damage. Muscle-specific changes contribute to limited functional recovery but have been poorly characterized.
EVIDENCE ACQUISITION
We conducted a systematic review of muscular changes occurring at the histological, neuromuscular and functional levels during the first year after the onset of post-stroke hemiplegia. A literature search was performed on PubMed, Embase and CINHAL databases up to November 2022 using a keyword combination comprising cerebral stroke, hemiplegic, atrophy, muscle structure, paresis, skeletal muscle fiber type, motor unit, oxidative stress, strength, motor control.
EVIDENCE SYNTHESIS
Twenty-seven trial reports were included in the review, out of 12,798 articles screened. Structural modifications described on the paretic side include atrophy, transformation of type II fibers into type I fibers, decrease in fiber diameter and apparent myofilament disorganization from the first week post-stroke up to the fourth month. Reported biochemical changes comprise the abnormal presence of lipid droplets and glycogen granules in the subsarcolemmal region during the first month post-stroke. At the neurophysiological level, studies indicate an early decrease in the number and activity of motor units, correlated with the degree of motor impairment. All these modifications were present to a lesser degree on the non-paretic side. Although only sparse data concerning the subacute stage are available, these changes seem to appear during the first two weeks post-stroke and continue up to the third or fourth month.
CONCLUSIONS
Considering these early pathophysiological changes on both the paretic and non-paretic sides, it seems crucial to promptly stimulate central and also peripheral muscular activation after stroke through specific rehabilitation programs focused on the maintenance of muscle capacities associated with neurological recovery or plasticity.
Topics: Humans; Hemiplegia; Muscles; Databases, Factual; Paresis; PubMed; Stroke
PubMed: 37695037
DOI: 10.23736/S1973-9087.23.07844-9 -
Healthcare (Basel, Switzerland) Aug 2023(1) Background: Facial palsy is a common health issue which leads to sequelae and disability. This systematic review aimed to assess the efficacy of laser therapy for... (Review)
Review
(1) Background: Facial palsy is a common health issue which leads to sequelae and disability. This systematic review aimed to assess the efficacy of laser therapy for the treatment of facial palsy. (2) Methods: Only randomized controlled trials comparing the effectiveness of laser therapy to non-laser intervention, no intervention, or placebo were searched for. Relevant studies were searched in seven electronic databases. Studies that examined the use of laser modalities for facial palsy management, with or without acupuncture, were also included. Two authors independently read and scored the methodological quality of the selected texts, and any disagreement was resolved by discussion or by intervention from the third author. (3) Results and conclusions: With five full-text articles, a methodological quality for each included study was assessed (kappa coefficient = 0.75). The laser therapy group in the mean difference measuring FDI showed an effect size of 8.15 compared to the control group; while measuring the paralysis score, an advantage was disclosed with an effect size of 0.22 compared to the control group.
PubMed: 37685454
DOI: 10.3390/healthcare11172419 -
Frontiers in Neurology 2023The specific benefits of a contralateral cervical 7 nerve transplant in people with spastic paralysis of the upper extremity caused by cerebral nerve injury are unclear.... (Review)
Review
OBJECTIVES
The specific benefits of a contralateral cervical 7 nerve transplant in people with spastic paralysis of the upper extremity caused by cerebral nerve injury are unclear. To evaluate the efficacy and safety of contralateral C7 nerve transfer for central spastic paralysis of the upper extremity, we conducted a comprehensive literature search and meta-analysis.
MATERIALS AND METHODS
PRISMA guidelines were used to search the databases for papers comparing the efficacy of contralateral cervical 7 nerve transfer vs. rehabilitation treatment from January 2010 to August 2022. The finishing indications were expressed using SMD ± mean. A meta-analysis was used to assess the recovery of motor function in the paralyzed upper extremity.
RESULTS
The meta-analysis included three publications. One of the publications offers information about RCTs and non-RCTs. A total of 384 paralyzed patients were included, including 192 who underwent CC7 transfer and 192 who received rehabilitation. Results from all patients were combined and revealed that patients who had CC7 transfer may have regained greater motor function in the Fugl-Meyer score (SMD 3.52, 95% CI = 3.19-3.84, < 0.00001) and had superior improvement in range of motion compared to the rehabilitation group (SMD 2.88, 95% CI = 2.47-3.29, < 0.00001). In addition, the spasticity in the paralyzed upper extremity significantly improved in patients with CC7 transfer (SMD -1.42, 95% CI = -1.60 to -1.25, < 0.00001).
CONCLUSION
Our findings suggested that a contralateral C7 nerve transfer, which has no additional adverse effects on the healthy upper limb, is a preferable method to restore motor function.
PubMed: 37669256
DOI: 10.3389/fneur.2023.1113254 -
Scientific Reports Aug 2023Although there was no significant heterogeneity in the meta-publication, sensitivity analyses revealed significant heterogeneity. Overall, the prevalence was higher in... (Meta-Analysis)
Meta-Analysis
Although there was no significant heterogeneity in the meta-publication, sensitivity analyses revealed significant heterogeneity. Overall, the prevalence was higher in women (N = 6, R = 4.6%, 95% CI 3.1%, 6.0%, and I = 99.8%) than in men (N = 6, R = 3.4%, 95% CI 2.0%, 4.7%, and I = 99.6the %); prevalence of type 2 diabetes (N = 9, R = 12.5%, 95% CI 7.7%, 17.3%, and I = 95.4%) was higher than type 1 diabetes (N = 7, R = 8.3%, 95% CI 6.4%, 10.2%, and I = 93.6%); the prevalence of DGP was slightly lower in DM patients aged over 60 years (N = 6, R = 5.5%, 95% CI 3.3%, 7.7%, and I = 99.9%) compared to patients under 60 years of age (N = 12, R = 15.8%, 95% CI 11 15.8%, 95% CI 11.4%, 20.2%, and I = 88.3%). In conclusion, our findings indicate that the combined estimated prevalence of gastroparesis in diabetic patients is 9.3%. However, the sensitivity of the results is high, the robustness is low, and there are significant bias factors. The subgroup analysis revealed that the prevalence of DM-DGP is associated with factors such as gender, diabetes staging, age, and study method.
Topics: Male; Humans; Female; Middle Aged; Aged; Gastroparesis; Diabetes Mellitus, Type 2; Prevalence; Diabetes Mellitus, Type 1; Patients
PubMed: 37640738
DOI: 10.1038/s41598-023-41112-6 -
Journal of Rehabilitation Medicine Aug 2023Post-stroke shoulder pain is a serious challenge for stroke survivors. The aim of this meta-analysis was to review the literature to confirm information on structural... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
Post-stroke shoulder pain is a serious challenge for stroke survivors. The aim of this meta-analysis was to review the literature to confirm information on structural changes in post-stroke shoulders detected by ultrasound examination.
METHODS
PubMed, Embase, Web of Science and ClinicalTrials.gov were searched until 7 December 2022, for studies describing shoulder sonographic findings in stroke patients. Two independent authors selected the studies, extracted the data, and performed the critical appraisal.
RESULTS
A total of 23 clinical studies were included. The most prevalent pathologies in hemiplegic shoulders pertained to the biceps long head tendon (41.4%), followed by the supraspinatus tendon (33.2%), subdeltoid bursa (29.3%), acromioclavicular joint (15.0%), and subscapularis tendon (9.2%). The common pathological findings encompassed bicipital peritendinous effusion (39.2%), biceps tendinopathy (35.5%), subdeltoid bursitis (29.3%) and supraspinatus tendinopathy (24.6%). Biceps long head tendon and supraspinatus tendon abnormalities were observed significantly more in the hemiplegic (vs contralateral) shoulders, with odds ratios of 3.814 (95% confidence interval 2.044-7.117) and 2.101 (95% confidence interval 1.257-3.512), respectively. No correlation was observed between motor function and shoulder pathology.
CONCLUSION
Ultrasonography enabled the identification of common shoulder pathologies after stroke. Further research is needed to establish the association between these changes and the clinical course of stroke patients.
Topics: Humans; Shoulder; Hemiplegia; Rotator Cuff; Tendons; Bursitis; Pain
PubMed: 37615388
DOI: 10.2340/jrm.v55.13432