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Seizure Jun 2024To analyze cerebellar atrophy in genetic epileptic encephalopathies (EEs).
OBJECTIVE
To analyze cerebellar atrophy in genetic epileptic encephalopathies (EEs).
METHODS
This research included a retrospective cohort study conducted from January 2016 to December 2023 and a systematic review on cerebellar atrophy in genetic EEs. Pediatric individuals who were diagnosed with EEs based on electroclinical features, carried causative gene variants, and exhibited cerebellar atrophy were recruited. Electroclinical features, neuroimaging findings, and causative variants of eligible individuals were analyzed.
RESULTS
The cohort study showed 10 of 67 pediatric individuals (10/67; 15 %) who were diagnosed with genetic EEs had cerebellar atrophy; and 6 of the 10 individuals (6/10; 60 %) exhibited cerebellar signs. Diagnostic delay between the detection of cerebellar atrophy and the identification of genetic diagnosis existed in 6 individuals (6/10; 60 %) and the median duration was 4.4 years. A total of 32 genes, including 31 genes from the literature review and a newly identified SCN2A gene in this cohort, were reported associated with cerebellar atrophy in genetic EEs. Twenty-six genes (26/32; 81 %) accounted for cerebellar atrophy associated with other brain anomalies and 6 genes (6/32; 19 %) caused isolated cerebellar atrophy. Twenty-five genes (25/32; 78 %) showed late-onset cerebellar atrophy identified after the age of 1 year old.
CONCLUSION
Cerebellar atrophy is not uncommon in genetic EEs and may serve as an indicator for molecular diagnosis in clinical practice. To shorten the diagnostic delay, follow-up neuroimaging study is crucial because of high rate of clinico-radiological dissociation and late-onset cerebellar atrophy in this patient group.
PubMed: 38897163
DOI: 10.1016/j.seizure.2024.06.013 -
Nutrients May 2024Previous studies have shown contradictory results regarding the association between vegetable and fruit consumption and the risk of sarcopenia. We aimed to evaluate this... (Meta-Analysis)
Meta-Analysis Review
Previous studies have shown contradictory results regarding the association between vegetable and fruit consumption and the risk of sarcopenia. We aimed to evaluate this association using a meta-analysis, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. We searched PubMed, EMBASE, and the Cochrane Library through July 2023 using related keywords. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated based on the random-effects model. We included 14 observational studies with 11 cross-sectional and three cohort studies involving 6436 sarcopenias among 33,801 participants. Vegetable and fruit consumption were significantly associated with reduced sarcopenia risk (OR, 0.61; 95% CI, 0.48 to 0.79; = 59.8%). The association was significant in cross-sectional studies (OR, 0.64; 95% CI, 0.49 to 0.84; = 56.3%; n = 11) but not in cohort studies (OR, 0.50; 95% CI, 0.22 to 1.11; = 76.4%; n = 3). Moreover, the association was significant in age ≥60 (OR, 0.64; 95% CI, 0.49 to 0.83; = 58.0%; n = 10). This meta-analysis suggests that eating vegetables and fruit reduces sarcopenia risk. However, as cohort studies provide a higher level of evidence than case-control studies, further prospective cohort studies should be conducted.
Topics: Humans; Vegetables; Sarcopenia; Fruit; Diet; Male; Middle Aged; Female; Aged; Cross-Sectional Studies; Risk Factors
PubMed: 38892640
DOI: 10.3390/nu16111707 -
Journal of Neurology Jun 2024While many studies have examined relationships of neuroimaging variables to cognitive measures in multiple sclerosis (MS), longitudinal studies are lacking. The...
BACKGROUND
While many studies have examined relationships of neuroimaging variables to cognitive measures in multiple sclerosis (MS), longitudinal studies are lacking. The relationship of cognitive changes to neuroradiological changes in MS is thus incompletely understood. The present study systematically reviews all studies reporting a relationship between MRI changes and cognitive changes after at least one year of follow-up.
METHOD
An extensive and methodical search of online databases was conducted to identify qualified studies until August 2023. Among various cognitive tests and magnetic resonance imaging (MRI) measures, Symbol Digit Modalities Test (SDMT), Paced Auditory Serial Addition Test (PASAT), verbal fluency, T2 lesion volume (T2LV), white matter lesion volume (WML), and grey matter volume (GMV) qualified for inclusion in a meta-analysis investigating the association of cognitive changes to neuroradiological changes.
RESULTS
We identified 35 studies that explored the link between MRI changes and changes in cognitive outcomes. Of these, twenty studies (57.14%) investigated the association between SDMT/PASAT and MRI metrics. Eleven studies (31.42%) focused on the relationship between MRI metrics and verbal learning and memory, while ten studies (28.57%) reported associations with visuospatial learning and memory. Furthermore, eight studies (22.85%) analyzed the correlation between verbal fluency and MRI measures. Only 5 were eligible for inclusion in the meta-analysis. The meta-analysis evaluated correlations between SDMT/PASAT and GMV (r = 0.67, 95% CI 0.44-0.91), and verbal fluency and T2LV (r = 0.35, 95% CI 0.09-0.60).
CONCLUSION
In this rigorously conducted systematic review, we found a significant association of cognitive changes, specifically SDMT/PASAT and verbal fluency, to changes in T2LV and atrophy in individuals with MS. Findings should be interpreted cautiously due to the limited amount of high-quality research, small sample sizes, and variability in study methodologies.
PubMed: 38890188
DOI: 10.1007/s00415-024-12517-8 -
Aging Clinical and Experimental Research Jun 2024Osteosarcopenia is a recently recognized geriatric syndrome. The association between osteosarcopenia and mortality risk is still largely underexplored. In this... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND & AIMS
Osteosarcopenia is a recently recognized geriatric syndrome. The association between osteosarcopenia and mortality risk is still largely underexplored. In this systematic review with meta-analysis of prospective cohort studies, we aimed to explore whether osteosarcopenia could be associated with a higher mortality risk.
METHODS
Several databases were searched from the inception to 16th February 2024 for prospective cohort studies dealing with osteosarcopenia and mortality. We calculated the mortality risk in osteosarcopenia vs. controls using the most adjusted estimate available and summarized the data as risk ratios (RRs) with their 95% confidence intervals (CIs). A random-effect model was considered for all analyses.
RESULTS
Among 231 studies initially considered, nine articles were included after exclusions for a total of 14,429 participants (mean age: 70 years; 64.5% females). The weighted prevalence of osteosarcopenia was 12.72%. Over a mean follow-up of 6.6 years and after adjusting for a mean of four covariates, osteosarcopenia was associated with approximately 53% increased risk of mortality (RR: 1.53; 95% CI: 1.28-1.78). After accounting for publication bias, the re-calculated RR was 1.48 (95%CI: 1.23-1.72). The quality of the studies was generally good, as determined by the Newcastle Ottawa Scale.
CONCLUSIONS
Osteosarcopenia was significantly linked with an increased risk of mortality in older people, indicating the need to consider the presence of osteoporosis in patients with sarcopenia, and vice versa, since the combination of these two conditions typical of older people may lead to further complications, such as mortality.
Topics: Aged; Female; Humans; Observational Studies as Topic; Prospective Studies; Risk Factors; Sarcopenia; Male
PubMed: 38888670
DOI: 10.1007/s40520-024-02785-9 -
European Spine Journal : Official... Jun 2024Surgical correction of neuromuscular scoliosis is often a challenging and extensive procedure. Due to this complexity and the high disease burden that these patients... (Review)
Review
PURPOSE
Surgical correction of neuromuscular scoliosis is often a challenging and extensive procedure. Due to this complexity and the high disease burden that these patients carry, per and post-operative complications are not uncommon. The purpose of this study was to systematically review and describe the pooled rates of postoperative complications and analyze risk factors for complications in neuromuscular scoliosis surgery described in the literature in the last ten years.
METHODS
A systematic review of the English literature across multiple databases was conducted using search criteria (neuromuscular scoliosis AND complications) and using PRISMA guidelines (Jan 2012-July 2022). Studies with less than 30 patients and follow-up of < 2 years were excluded. Data extraction and meta-analysis were performed using random mode effect. Statistical analysis was conducted using OpenMeta software. Meta-regression analysis was used to detect risk factors (surgical approach, intraoperative time, intraoperative blood loss, preoperative Cobb angle and patient diagnosis) associated with each complication group. Confidence interval (CI) was set at 95%.
RESULTS
Twenty-two studies met the inclusion criteria involving 2155 patients. The level of evidence among studies were III (9) and IV (13). The most common primary diagnosis was cerebral palsy (43%) followed by Duchenne muscle dystrophy (20%), myelomeningocele (7.4%), spinal muscle atrophy (7.1%), Rett syndrome (< 2%) and combined other pathologies (20.2%). The pooled incidence rate of wound complications was the highest, amongst all complications, at 13.3% (CI 10.838 to 16.861); closely followed by respiratory complications (11.8%;CI 5.7 to 19.7). Implant failure occurred in 7.1% cases (CI 6.418 to 11.465), gastrointestinal complications was 5.2%; CI 2.4 to 8), pseudarthrosis in (4.6%;CI 2.2 to 6.9) and neurological deficit in 2.9% (CI 1.989 to 6.086). The pooled rate of revision surgery was (9.6%; CI 6.2 to 12.9). Heterogeneity was assessed using I test which results were moderately heterogeneous. Meta-regression analysis revealed that the diagnosis of myelomeningocele or Duchenne muscle dystrophy or spinal muscle atrophy were strongly associated with wound and respiratory complications (p = 0.007 and p = 0.005, respectively).
CONCLUSION
Wound-related (13.3%) and respiratory complications (11.8%) remain the most common complications among studies after corrective surgery for neuromuscular scoliosis. Both are significantly associated with Duchenne muscle dystrophy, spinal muscle atrophy and myelomeningocele.
PubMed: 38869648
DOI: 10.1007/s00586-024-08338-y -
Frontiers in Immunology 2024Given the high incidence of sarcopenia among Asians, it is imperative to identify appropriate intervention methods. The International Clinical Practice Guidelines for... (Meta-Analysis)
Meta-Analysis
Effectiveness of resistance training in modulating inflammatory biomarkers among Asian patients with sarcopenia: a systematic review and meta-analysis of randomized controlled trials.
OBJECTIVE
Given the high incidence of sarcopenia among Asians, it is imperative to identify appropriate intervention methods. The International Clinical Practice Guidelines for Sarcopenia, developed by the International Conference on Sarcopenia and Frailty Research (ICFSR) task force, recommends resistance training (RT) as a primary treatment for managing sarcopenia. Inflammatory biomarkers serve as indicators of sarcopenia. However, there is currently insufficient conclusive evidence regarding the effectiveness of RT in modulating inflammatory biomarker levels among Asian participants with sarcopenia.
DATA SOURCES
Four databases were utilized for this study until October 9, 2023. This study focused on randomized controlled trials (RCTs) that examined the effects of RT on interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), C-reactive protein (CRP), and interleukin-10 (IL-10) about sarcopenia. This study has been registered in the PROSPERO database (CRD42024501855).
RESULTS
The meta-analysis included six studies from Asians involving 278 participants. The results showed a significant decrease in RT for IL-6 (weighted mean difference (WMD) = -0.73, 95% confidence interval (CI) = -1.02 to -0.44; n=5). However, no significant differences were found for TNF-α (WMD = -1.00, 95% CI = -2.47 to 0.46; n=5), CRP (WMD = -0.45, 95% CI = -1.14 to 0.23; n=3), and IL-10 (WMD = 0.13, 95% CI = -3.99 to 4.25; n=2). Subgroup analysis revealed that factors including gender selection, intervention methods, frequency, period, and duration could have a particular effect on the part of inflammatory biomarkers.
CONCLUSION
RT has been shown to reduce part of the level of inflammatory markers, specifically IL-6, in Asian sarcopenia participants. However, other inflammatory factors, such as TNF-α, CRP, and IL-10, did not show significant changes. Further research should confirm the impact of RT on these indicators and explore the potential effects of various factors on different inflammatory markers, such as diet, body composition, and medications.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=501855, identifier CRD42024501855.
Topics: Humans; Sarcopenia; Biomarkers; Randomized Controlled Trials as Topic; Resistance Training; Asian People; Female; Male; Inflammation; C-Reactive Protein; Interleukin-6; Treatment Outcome
PubMed: 38863698
DOI: 10.3389/fimmu.2024.1385902 -
Eye (London, England) Jun 2024Traumatic optic neuropathy is classically described in up to 8% of patients with traumatic brain injury (TBI), but subclinical or undiagnosed optic nerve damage is much... (Review)
Review
BACKGROUND
Traumatic optic neuropathy is classically described in up to 8% of patients with traumatic brain injury (TBI), but subclinical or undiagnosed optic nerve damage is much more common. When more sensitive testing is performed, at least half of patients with moderate to severe TBI demonstrate visual field defects or optic atrophy on examination with optical coherence tomography. Acute optic nerve compression and ischaemia in orbital compartment syndrome require urgent surgical and medical intervention to lower the intraocular pressure and diminish the risk of permanent optic nerve dysfunction. Other manifestations of traumatic optic neuropathy have more variable treatments in international practice.
METHODS
We conducted a systematic review of traumatic optic neuropathy treatments in accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) statement.
RESULTS
We included three randomised controlled trials of intravenous methylprednisolone (IVMP), erythropoietin, and levodopa-carbidopa combination, with no evidence of benefit for any treatment. In addition, large studies in TBI have found strong evidence of increased mortality in patients treated with megadose IVMP.
CONCLUSIONS
There is therefore no evidence of benefit for any medical treatment and strong evidence of harm from IVMP. There is also no evidence of benefit for optic canal decompression for traumatic optic neuropathy. Orbital compartment syndrome is a separate entity that requires both medical and surgical interventions to prevent visual loss.
PubMed: 38862644
DOI: 10.1038/s41433-024-03129-7 -
Digestive Diseases (Basel, Switzerland) Jun 2024Celiac disease is an autoimmune condition that affects approximately 1% of the population worldwide. Although its main impact often concerns the small intestine,...
Celiac disease is an autoimmune condition that affects approximately 1% of the population worldwide. Although its main impact often concerns the small intestine, resulting in villous atrophy and nutrient malabsorption, it can also cause systemic manifestations, particularly when undiagnosed or left untreated. Here, attention is paid to the possible psychological, psychiatric, and organic brain manifestations of celiac disease. Specific topics related to the influence and risk of such manifestations with respect to celiac disease are defined and discussed. Overall, eighteen main topics are considered, sifted from over 500 references. The most often studied topics were found to be the effect on quality of life, organic brain dysfunction and ataxia, epilepsy, Down syndrome, generalized psychological disorders, eating dysfunction, depression, and schizophrenia. For most every topic, although many studies report a connection to celiac disease, there are often one or more contrary studies and opinions. A bibliographic analysis of the cited articles was also done. There has been a sharp increase in interest in this research since 1990. Recently published articles tend to receive more referencing, up to as many as 15 citations per year, suggesting an increasing impact of the topics. The number of manuscript pages per article has also tended to increase, up to as many as 12 pages. The impact factor of the publishing journal has remained level over the years. This compendium may be useful in developing a consensus regarding psychological, psychiatric, and organic brain manifestations that can occur in celiac disease, and for determining the best direction for ongoing research focus.
PubMed: 38861947
DOI: 10.1159/000534219 -
Experimental Gerontology Aug 2024The role of interleukins in sarcopenia development has been acknowledged, yet the specifics of their involvement remain to be fully understood. This study aimed to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The role of interleukins in sarcopenia development has been acknowledged, yet the specifics of their involvement remain to be fully understood. This study aimed to explore alterations in interleukin levels among sarcopenia patients.
METHODS
Searches were conducted in Embase, Medline, and the Cochrane Library for literature published up to May 2023. Eligible observational studies with a diagnosis of sarcopenia were included. The Newcastle-Ottawa Scale was utilized for quality assessment. For data synthesis, a random-effects model was used, and the Mantel-Haenszel method was used for pooled estimates.
RESULTS
Of the 7685 articles screened, 37 met the inclusion criteria. Statistically significant differences in the levels of IL-1β, IL-6 and IL-10 were detected in sarcopenia patients. Specifically, IL-1β (95 % CI: 0.33 [0.12, 0.54], P < 0.05), IL-6 (95 % CI: 0.91 [0.59, 1.24], P < 0.05), and IL-10 (95 % CI: 0.11 [0.07,0.15], P < 0.05) were detected. However, no significant associations were found between serum IL-4 (95 % CI: 0.36 [-0.18, 0.42], P = 0.44), IL-8 (95 % CI: -1.05 [-3.06, 0.95], P = 0.3), IL-12 (95 % CI: -3.92 [-8.32,0.48], P = 0.08) or IL-17 (95 % CI: 0.22 [-2.43, 2.88], P = 0.87) and sarcopenia. Subgroup analysis showed no significant difference in IL-6 (95 % CI: -0.03 [-0.72, 0.66], P = 0.93) and IL-10 (95 % CI: 0.1 [-0.44, 0.64], P = 0.72) among patients with European standard sarcopenia.
CONCLUSIONS
Inflammation plays a role in sarcopenia, and the serum levels of IL-1β, IL-6, and IL-10 are associated with sarcopenia. Further research is needed to clarify these associations.
CLINICAL TRIALS REGISTRATION NUMBER
CRD42024506656.
Topics: Aged; Humans; Interleukin-10; Interleukin-1beta; Interleukin-6; Interleukins; Sarcopenia
PubMed: 38852656
DOI: 10.1016/j.exger.2024.112480 -
Age and Ageing Jun 2024This review provides an overview of the psychometric properties of the short physical performance battery (SPPB), timed up and go test (TUG), 4 m gait speed test (4 m...
BACKGROUND
This review provides an overview of the psychometric properties of the short physical performance battery (SPPB), timed up and go test (TUG), 4 m gait speed test (4 m GST) and the 400 m walk test (400 m WT) in community-dwelling older adults.
METHODS
A systematic search was conducted in MEDLINE, CINAHL and EMBASE, resulting in the inclusion of 50 studies with data from in total 19,266 participants (mean age 63.2-84.3). Data were extracted and properties were given a sufficient or insufficient overall rating following the COSMIN guideline for systematic reviews of patient-reported outcome measures. Quality of evidence (QoE) was rated using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach.
RESULTS
The SPPB was evaluated in 12 studies, TUG in 30, 4 m GST in 12 and 400 m WT in 2. Reliability of the SPPB, TUG and 4 m GST was rated sufficient (moderate to good QoE). The measurement error of the SPPB was rated insufficient (low QoE). Criterion validity for the SPPB was insufficient in indicating sarcopenia (moderate QoE), while the TUG was sufficient and insufficient for determining mobility limitations (low QoE) and activities of daily living disability (low QoE), respectively. Construct validity of the SPPB, TUG, 4 m GST and 400 m WT was rated insufficient in many constructs (moderate to high QoE). Responsiveness was rated as insufficient for SPPB (high QoE) and TUG (very low QoE), while 4 m GST was rated as sufficient (high QoE).
CONCLUSION
Overall, the psychometric quality of commonly used physical performance tests in community-dwelling older adults was generally rated insufficient, except for reliability. These tests are widely used in daily practice and recommended in guidelines; however, users should be cautious when drawing conclusions such as sarcopenia severity and change in physical performance due to limited psychometric quality of the recommended measurement instruments. There is a need for a disease-specific physical performance test for people with sarcopenia.This research received no specific grant from any funding agency and was registered a priori using the International Prospective Register of Systematic Reviews (PROSPERO) (CRD42022359725).
Topics: Humans; Sarcopenia; Psychometrics; Aged; Independent Living; Geriatric Assessment; Reproducibility of Results; Aged, 80 and over; Physical Functional Performance; Male; Female; Middle Aged; Activities of Daily Living; Walk Test; Disability Evaluation; Predictive Value of Tests
PubMed: 38851214
DOI: 10.1093/ageing/afae113