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Myofibrillar myopathies (MFMs) are a group of pathologically defined hereditary myopathies with clinical heterogeneity due to mutations in genes encoding Z-disk and chaperone-assisted selective autophagy-related proteins. However, mutations in these genes can also cause myopathy without myofibrillar pathology. Peripheral neuropathy (PN) is a known extramuscular manifestation of MFM. We aimed to investigate the frequency, type, and clinical impact of PN in both MFM and MFM gene-related myopathies. The Mayo Clinic Clinical Database (January 1993-January 2024) was reviewed to identify patients with pathologically diagnosed MFM and myopathies due to MFM genes regardless of myopathological findings. Patients without genetic testing or neurologic evaluation were excluded. We included 81 patients (44 males), 51 of whom were genetically characterized (21 DES , 8 MYOT , 6 LDB3 , 4 FLNC , 2 BAG3 , 2 CRYAB , 1 FHL1 , and 7 others). PN occurred in 23 patients [11 genetically characterized (4 MYOT , 2 BAG3 , 2 CRYAB , 1 FLNC , 1 DES , and 1 LDB3)]: 13 large-fiber PN (12 axonal and 1 mixed axonal-demyelinating), and 10 small-fiber PN. PN was less frequent in desminopathy (p=0.005) compared to others. The median neuropathy impairment score (NIS) was similar in the PN and non-PN groups [35 (IQR 20.0, 54.0) versus 37.2 (IQR 16.8, 58.0); p=0.983]. However, NIS sensory and reflex subscores were significantly higher in the PN group, while the NIS motor subscore was comparable between groups. Patients with PN were more likely to be male (73.9% vs. 46.6%; p=0.026) with older age at myopathy onset (median age 58.7 vs. 36.3 years; p=0.007), but muscle weakness and gait assistance need did not differ from the non-PN group. The prevalence of diabetes mellitus was similar in the PN group and the non-PN group (13.0% vs. 6.9%, p=0.399). In conclusion, 28.4% of patients with MFM and myopathies caused by MFM genes developed PN. Although PN prevalence varies across genotypes, its presence is usually mild, not signifying muscle weakness or the necessity of gait aids. [ABSTRACT FROM AUTHOR]

Background: Acute stroke management is a time-dependent process, and early intervention is associated with more favorable outcomes. Given the time sensitivity of stroke management, the high morbidity and mortality rate, and the high cost of long-term post-stroke care, more information is needed about the factors that influence hospital arrival time after acute stroke in Thailand. Objective: To investigate the factors that significantly influence hospital arrival time after acute stroke. Materials and Methods: A retrospective chart review of acute stroke patients treated at the Division of Neurology, Department of Medicine, Siriraj Hospital, Bangkok, Thailand between 2007 and 2010 was conducted. Patients were allocated to either early (4.5 hours or less) or delayed (more than 4.5 hours) hospital arrival group. Demographic data, comorbidities, stroke severity using the NIHSS, current medications, mode of transportation to the hospital, referral status, and final diagnosis were collected. Results: Of 1,045 patients, mean age was 65.4±13.8 years, 46.0% were female, and the median NIHSS score was 6. Regarding arrival time, 40.2%, 51.6%, and 59.14% of patients arrived at the hospital within 3, 4.5, and 6 hours, respectively. Only 6.6% arrived by ambulance. Multivariate logistic regression analysis revealed previous ischemic stroke/transient ischemic attack (p=0.022), diagnosis of severe stroke (NIHSS score >15) (p=0.001), seizure as an initial symptom (p=0.023), and diagnosis of hemorrhagic stroke (p=0.004) to be associated with early hospital arrival. Awakening or unknown-onset stroke (p<0.001) and referral from other centers (p<0.001) were factors associated with late arrival. Conclusion: The factors that significantly influenced hospital arrival time after acute stroke in Thai population are the very low rate of EMS used and the delay in the referral of patients from other hospitals. Further study to investigate strategies to improve stroke awareness and referral protocols are warranted. [ABSTRACT FROM AUTHOR]

The clinical assessment of patients with proximal muscle weakness represents a frequent yet intricate challenge. We present the case of a 60-year-old woman who experienced a progressive, symmetrical weakness in proximal limbs and bulbar muscles over 6 months. Notable clinical findings included bilateral ophthalmoparesis; widespread muscle atrophy; and pronounced weakness in craniobulbar, cervical, and proximal muscles, more severe than in distal ones. We elucidate a methodical diagnostic approach, focusing on constructing a comprehensive differential diagnosis and identifying potential causes of proximal muscle weakness. Special emphasis is placed on exploring the etiologies in cases presenting with both progressive muscle weakness and ophthalmoparesis. We further describe the role of muscle biopsy results and their integration with genetic testing outcomes.

Introduction/aim: High-resolution ultrasound (HRUS) is increasingly used in evaluating neuromuscular conditions. Its potential advantages include its ability to discern anatomic information and make specific etiological diagnoses. Although many studies have demonstrated HRUS effectiveness, especially in mononeuropathies, more information is needed to better determine how often and to what extent useful information is obtained; how it influences diagnosis, clinical decision-making, and patient management; and how it is used with electrodiagnostic (EDx) studies., Methods: A retrospective cohort study was performed on patients referred for HRUS at a university laboratory during 2021. Demographic information, referral diagnoses, clinical information, HRUS findings, and follow-up patient management were analyzed. For patients who had EDx, results were compared with HRUS. Determinations were made whether HRUS did or did not aid in the diagnosis. For patients in whom HRUS resulted in a diagnosis, determination was made whether it confirmed the diagnosis made clinically or by EDx but did not change management; added additional important information; and/or made a decisive impact on subsequent management., Results: Five hundred two patients were analyzed, most referred for mononeuropathy, brachial plexopathy, and polyneuropathy. HRUS was abnormal in 81.7% of patients. HRUS added additional useful information in 79.0% and was decisive in management in 62.7%. In patients who also had abnormal EDx, HRUS resulted in decisive management in 49.5%., Discussion: HRUS is an effective diagnostic tool that frequently adds localizing and structural information that is otherwise not obtainable by clinical and EDx evaluation. In a substantial number of patients selected for HRUS, it is decisive in guiding further management., (© 2023 Wiley Periodicals LLC.)

Objective: To assess the effect of the pneumococcal vaccine (PCV) toward the surgical management and complications of otitis media., Data Sources: MEDLINE, EMBASE, PubMed, Scopus, and clinicaltrial.gov., Review Methods: A systematic search was performed using a combination of keywords and standardized terms about PCV and surgical management or complications of otitis media. Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, studies were screened by 3 independent reviewers. Risk of bias assessment, followed by meta-analysis in only randomized-controlled trials was conducted. Vaccine efficacy (VE) and 95% confidence interval (CI) were reported., Results: Of the 2649 abstracts reviewed, 27 studies were included in the qualitative analysis and were categorized into 6 outcomes: tympanostomy tube insertion, otitis media with effusion (OME), mastoiditis, spontaneous tympanic membrane (TM) perforation, recurrent acute otitis media (AOM), and severe AOM. Fifteen studies were included in the meta-analysis to evaluate the rate of tympanostomy tube insertion, OME, and recurrent AOM. PCV was significantly more effective in lowering the rate of tympanostomy tube insertion (VE, 22.2%; 95% CI, 14.6-29.8) and recurrent AOM (VE, 10.06%; 95% CI, 7.46-12.65) when compared with the control group, with no significant difference in reducing the incidence of OME. The qualitative analysis revealed that PCV had efficacy in preventing severe AOM and spontaneous TM perforation but the effect on mastoiditis remained unclear., Conclusion: The PCV was effective in reducing the rate of tympanostomy tube insertion and the incidence of recurrent AOM with a nonsignificant effect in preventing OME in children., (© 2023 The Authors. Otolaryngology-Head and Neck Surgery published by Wiley Periodicals LLC on behalf of American Academy of Otolaryngology-Head and Neck Surgery Foundation.)

Objective: Pediatric respiratory emergencies of airway foreign body (FB) are a common cause of visits to the emergency department (ED) and respiratory failure is a major cause of cardiopulmonary arrest. The purpose of this study is to evaluate the literature and update our current understanding of pediatric respiratory tract FBs in children by clearly considering the aspect of the complications and related factors., Methods: A systematic search of PubMed and Embase yielded a total of 2035 studies related to the respiratory tract FB in children. After screening the abstracts, 118 articles were included for analysis. However, 56 articles were excluded due to the published data more than 10 years. Meanwhile, 6 articles were duplicated and 3 articles were the secondary data. Thus, 53 full text articles were assessed for eligibility. Then, 46 full text articles were excluded due to irrelevant contents. Finally, there were 7 qualitative articles in this systematic review., Results: Most children with FBs in the aerodigestive tract are 1-3 years of age. Most FBs are organic, especially seeds. The most commonly obstructed airway is the right primary bronchus. The most common and severe complications are pneumonia, pulmonary atelectasis, lung consolidation, pneumothorax, bronchiectasis, and death. The main device for the removal of FBs from the airways is a rigid bronchoscope. Duration of diagnosis is major factors that related with severe complication., Conclusion: FBs obstructive conditions in respiratory tract of children are serious and life-threatening conditions. The likelihood of death depends on the location of the obstruction, the nature of FB, time to removal, and initial resuscitation. Moreover, even after a FB has been removed, complications can lead to death. Educating parents and immediate treatment is very important. Rapid diagnosis is important factor to prevent complication., Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest relevant to this article to disclose., (Copyright © 2022. Published by Elsevier B.V.)

Aim: The present study comprehensively investigated the relationship between diabetic peripheral neuropathy (DPN) and sarcopenia by identifying all eligible studies and summarizing their results., Methods: Records were identified through MEDLINE and EMBASE database searching from inception to March 9, 2022. We included all cross-sectional studies investigating the association between DPN and sarcopenia among patients with diabetes. Data from eligible studies, including point estimates and standard errors, were pooled together using the generic inverse variance method., Results: Of 2989 retrieved articles, five studies met the inclusion criteria and were allowed for meta-analysis. The pooled analysis found a significant association between DPN and sarcopenia with the pooled odds ratio of 1.62 (95% confidence interval: 1.30-2.02; I 2 0%). The funnel plot was relatively symmetric and was not suggestive of the presence of publication bias., Conclusions: The current study discovered a significant association between DPN and sarcopenia in patients with diabetes. However, given summarized data from cross-sectional studies, the temporality between DPN and sarcopenia could not be established. Geriatr Gerontol Int 2022; 22: 785-789., (© 2022 Japan Geriatrics Society.)

Introduction/aims: Previous studies have shown inconsistent data on the relationship between statin use and polyneuropathy (PN). The current systematic review and meta-analyses were conducted to comprehensively investigate the risk of incident PN among statin-users compared with non-users by identifying all available studies and summarizing their results., Methods: A systematic review was conducted from MEDLINE and EMBASE databases from inception to October 31, 2020. We included cohort and case-control studies that compared the risk of incident PN between statin-users and non-users. Point estimates and standard errors from eligible studies were pooled together using the generic inverse variance method., Results: Of 4968 retrieved articles, 6 studies in non-diabetic populations and 2 studies in diabetic populations fulfilled the inclusion criteria. Two meta-analyses were performed. The pooled analyses did not find a statistically significant association between the use of statins and risk of incident PN with the pooled odds ratio of 1.24 (95% confidence interval [CI], 0.88-1.76; I 2 74%) and 0.82 (95% CI, 0.56-1.21; I 2 80%) in non-diabetic and diabetic groups respectively., Discussion: No significant association between the use of statins and the risk of PN was observed in this systematic review and these two meta-analyses. However, there was a high degree of heterogeneity of the meta-analyses., (© 2021 Wiley Periodicals LLC.)

Background/aims: Previous studies have suggested that diabetes mellitus (DM) could be a protective factor against amyotrophic lateral sclerosis (ALS) although the results are inconsistent. This study aimed to comprehensively investigate this relationship by identifying all available studies and summarizing their results., Methods: A systematic review was conducted in MEDLINE and EMBASE database from inception to January 1st, 2020 to identify cohort studies and case-control studies that investigated the risk of development of ALS among patients with DM versus individuals without DM. Point estimates and standard errors from eligible studies were pooled together using the generic inverse variance method, as described by DerSimonian and Laird. Visualization of the funnel plot was used to assess for the presence of publication bias., Results: A total of 1683 articles were identified by the search strategy. After two rounds of review, three cohort studies and eight case-control studies fulfilled the inclusion criteria and were included in the meta-analysis. The risk of developing ALS was significantly lower among patients with DM than individuals without DM with the pooled relative risk of 0.68 (95 % CI, 0.55 - 0.84; I 2 81 %). The funnel plot was relatively symmetric and was not suggestive of the presence of publication bias., Conclusion: A significantly decreased risk of ALS among patients with DM was observed in this meta-analysis., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objectives: To characterize inpatient prevalence and resource utilization of patients with polymyositis (PM) and dermatomyositis (DM)., Methods: Patients with PM/DM were identified from the Nationwide Inpatient Sample (NIS) database from the year 2005 to 2014 using ICD-9 diagnostic codes. The primary outcome of this study was inpatient prevalence of PM/DM in the United States across the span of 10 years. Secondary outcomes included reason for hospitalization, inpatient mortality, morbidity, hospital length of stay (LOS), utilization of specialized procedures/tests and expenditures. A cohort of patients without PM/DM was also identified from the same database to serve as comparators. Multivariate regression analysis was used to adjust for age, sex, ethnicity, comorbidities and hospital characteristics., Results: A total of 160,528 admissions of patients with a diagnosis of PM/DM occurred in the study period, corresponding to the inpatient prevalence of 41.9 cases per 100,000 discharges. During admission, patients with PM/DM died more frequently than patients without PM/DM with an adjusted odds ratio (aOR) of 2.22 (P<0.01). A significantly higher inpatient morbidity among patients with PM/DM was also observed as indicated by a significantly higher risk of shock (aOR 2.33; P<0.01), acute kidney injury (aOR 1.12; P<0.01), multi-organ failure (aOR 1.83; P<0.01) and need for admission to intensive care unit (aOR 1.94; P<0.01). Patients in the PM/DM had an average of 1.7 more days of LOS (P<0.01). The mean hospital costs and total hospitalization charges for patients with PM/DM were significantly higher than patients without PM/DM with additional adjusted mean of $4,217 and $13,531, respectively, in the multivariate model. Patients with PM/DM underwent computerized tomography scan (aOR 1.90; P<0.01), magnetic resonance imaging (aOR 1.68; P<0.01) and angiography (aOR 1.15; P<0.01) more often than comparators., Conclusions: Inpatient prevalence of PM/DM was higher than what would be expected from the overall incidence. Hospitalizations of patients with PM/DM were associated with significantly higher rate of mortality, morbidity and resource utilization., (Copyright © 2020 Société française de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.)

The objective of this study is to investigate the impact of skin sclerosis burden on an internal organ involvement over a 1-year period, as measured by time-adjusted accrual-modified Rodnan skin score (TA-mRSS), and to evaluate association between TA-mRSS patterns and laboratory tests in patients with systemic sclerosis (SSc). This prospective study was conducted at Siriraj Hospital (Bangkok, Thailand) during the November 2013-November 2016. SSc patients by ACR/EULAR 2013 or ACR 1980 criteria were eligible. TA-mRSS was classified as low, intermediate, or high, and then compared between groups. Correlation between the arithmetic mean of laboratory tests and TA-mRSS was assessed by multiple linear regression analysis. A total of 118 patients, with 81.4% women, median (IQR) age 49.8 (43.8, 55.1) years, disease duration from onset of non-Raynaud symptoms to first visit of 3.3 (1, 6.8) years, 78% dcSSc, and 75.3% anti-Scl-70 positivity, were analyzed. TA-mRSS over 1 year ranged from 0 to 37.44. The high skin sclerosis burden group had a median TA-mRSS > 7.26 (> 67th percentile). Patients with high TA-mRSS were dcSSc, high initial and average mRSS, and had tendon friction rub, digital ischemic complications, usual interstitial pneumonia, diastolic dysfunction, gastrointestinal dysmotility, and low serum albumin. In multiple linear regression analysis, the arithmetic mean of hemoglobin (B = - 1.007, 95% CI - 1.779 to - 0.236), erythrocyte sedimentation rate (B = - 0.078, 95% CI - 0.126 to - 0.029), serum glutamic oxaloacetic transaminase (B = 0.073, 95% CI 0.026-0.12), creatine phosphokinase (B = 0.012, 95% CI 0.003-0.021), and albumin (B = - 4.117, 95% CI - 6.958 to - 1.276) were associated with TA-mRSS. This study found a higher cumulative course of mRSS over a 1-year period to be significantly associated with severe internal organ involvement.

[This corrects the article DOI: 10.1371/journal.pone.0191172.].

Aims: Carotid intima media thickness (CIMT) predicts cardiovascular (CVD) events, but the predictive value of CIMT change is debated. We assessed the relation between CIMT change and events in individuals at high cardiovascular risk., Methods and Results: From 31 cohorts with two CIMT scans (total n = 89070) on average 3.6 years apart and clinical follow-up, subcohorts were drawn: (A) individuals with at least 3 cardiovascular risk factors without previous CVD events, (B) individuals with carotid plaques without previous CVD events, and (C) individuals with previous CVD events. Cox regression models were fit to estimate the hazard ratio (HR) of the combined endpoint (myocardial infarction, stroke or vascular death) per standard deviation (SD) of CIMT change, adjusted for CVD risk factors. These HRs were pooled across studies. In groups A, B and C we observed 3483, 2845 and 1165 endpoint events, respectively. Average common CIMT was 0.79mm (SD 0.16mm), and annual common CIMT change was 0.01mm (SD 0.07mm), both in group A. The pooled HR per SD of annual common CIMT change (0.02 to 0.43mm) was 0.99 (95% confidence interval: 0.95-1.02) in group A, 0.98 (0.93-1.04) in group B, and 0.95 (0.89-1.04) in group C. The HR per SD of common CIMT (average of the first and the second CIMT scan, 0.09 to 0.75mm) was 1.15 (1.07-1.23) in group A, 1.13 (1.05-1.22) in group B, and 1.12 (1.05-1.20) in group C., Conclusions: We confirm that common CIMT is associated with future CVD events in individuals at high risk. CIMT change does not relate to future event risk in high-risk individuals.