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The Cochrane Database of Systematic... Dec 2019Strength training or aerobic exercise programmes, or both, might optimise muscle and cardiorespiratory function and prevent additional disuse atrophy and deconditioning... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Strength training or aerobic exercise programmes, or both, might optimise muscle and cardiorespiratory function and prevent additional disuse atrophy and deconditioning in people with a muscle disease. This is an update of a review first published in 2004 and last updated in 2013. We undertook an update to incorporate new evidence in this active area of research.
OBJECTIVES
To assess the effects (benefits and harms) of strength training and aerobic exercise training in people with a muscle disease.
SEARCH METHODS
We searched Cochrane Neuromuscular's Specialised Register, CENTRAL, MEDLINE, Embase, and CINAHL in November 2018 and clinical trials registries in December 2018.
SELECTION CRITERIA
Randomised controlled trials (RCTs), quasi-RCTs or cross-over RCTs comparing strength or aerobic exercise training, or both lasting at least six weeks, to no training in people with a well-described muscle disease diagnosis.
DATA COLLECTION AND ANALYSIS
We used standard methodological procedures expected by Cochrane.
MAIN RESULTS
We included 14 trials of aerobic exercise, strength training, or both, with an exercise duration of eight to 52 weeks, which included 428 participants with facioscapulohumeral muscular dystrophy (FSHD), dermatomyositis, polymyositis, mitochondrial myopathy, Duchenne muscular dystrophy (DMD), or myotonic dystrophy. Risk of bias was variable, as blinding of participants was not possible, some trials did not blind outcome assessors, and some did not use an intention-to-treat analysis. Strength training compared to no training (3 trials) For participants with FSHD (35 participants), there was low-certainty evidence of little or no effect on dynamic strength of elbow flexors (MD 1.2 kgF, 95% CI -0.2 to 2.6), on isometric strength of elbow flexors (MD 0.5 kgF, 95% CI -0.7 to 1.8), and ankle dorsiflexors (MD 0.4 kgF, 95% CI -2.4 to 3.2), and on dynamic strength of ankle dorsiflexors (MD -0.4 kgF, 95% CI -2.3 to 1.4). For participants with myotonic dystrophy type 1 (35 participants), there was very low-certainty evidence of a slight improvement in isometric wrist extensor strength (MD 8.0 N, 95% CI 0.7 to 15.3) and of little or no effect on hand grip force (MD 6.0 N, 95% CI -6.7 to 18.7), pinch grip force (MD 1.0 N, 95% CI -3.3 to 5.3) and isometric wrist flexor force (MD 7.0 N, 95% CI -3.4 to 17.4). Aerobic exercise training compared to no training (5 trials) For participants with DMD there was very low-certainty evidence regarding the number of leg revolutions (MD 14.0, 95% CI -89.0 to 117.0; 23 participants) or arm revolutions (MD 34.8, 95% CI -68.2 to 137.8; 23 participants), during an assisted six-minute cycle test, and very low-certainty evidence regarding muscle strength (MD 1.7, 95% CI -1.9 to 5.3; 15 participants). For participants with FSHD, there was low-certainty evidence of improvement in aerobic capacity (MD 1.1 L/min, 95% CI 0.4 to 1.8, 38 participants) and of little or no effect on knee extension strength (MD 0.1 kg, 95% CI -0.7 to 0.9, 52 participants). For participants with dermatomyositis and polymyositis (14 participants), there was very low-certainty evidence regarding aerobic capacity (MD 14.6, 95% CI -1.0 to 30.2). Combined aerobic exercise and strength training compared to no training (6 trials) For participants with juvenile dermatomyositis (26 participants) there was low-certainty evidence of an improvement in knee extensor strength on the right (MD 36.0 N, 95% CI 25.0 to 47.1) and left (MD 17 N 95% CI 0.5 to 33.5), but low-certainty evidence of little or no effect on maximum force of hip flexors on the right (MD -9.0 N, 95% CI -22.4 to 4.4) or left (MD 6.0 N, 95% CI -6.6 to 18.6). This trial also provided low-certainty evidence of a slight decrease of aerobic capacity (MD -1.2 min, 95% CI -1.6 to 0.9). For participants with dermatomyositis and polymyositis (21 participants), we found very low-certainty evidence for slight increases in muscle strength as measured by dynamic strength of knee extensors on the right (MD 2.5 kg, 95% CI 1.8 to 3.3) and on the left (MD 2.7 kg, 95% CI 2.0 to 3.4) and no clear effect in isometric muscle strength of eight different muscles (MD 1.0, 95% CI -1.1 to 3.1). There was very low-certainty evidence that there may be an increase in aerobic capacity, as measured with time to exhaustion in an incremental cycle test (17.5 min, 95% CI 8.0 to 27.0) and power performed at VO max (maximal oxygen uptake) (18 W, 95% CI 15.0 to 21.0). For participants with mitochondrial myopathy (18 participants), we found very low-certainty evidence regarding shoulder muscle (MD -5.0 kg, 95% CI -14.7 to 4.7), pectoralis major muscle (MD 6.4 kg, 95% CI -2.9 to 15.7), and anterior arm muscle strength (MD 7.3 kg, 95% CI -2.9 to 17.5). We found very low-certainty evidence regarding aerobic capacity, as measured with mean time cycled (MD 23.7 min, 95% CI 2.6 to 44.8) and mean distance cycled until exhaustion (MD 9.7 km, 95% CI 1.5 to 17.9). One trial in myotonic dystrophy type 1 (35 participants) did not provide data on muscle strength or aerobic capacity following combined training. In this trial, muscle strength deteriorated in one person and one person had worse daytime sleepiness (very low-certainty evidence). For participants with FSHD (16 participants), we found very low-certainty evidence regarding muscle strength, aerobic capacity and VO peak; the results were very imprecise. Most trials reported no adverse events other than muscle soreness or joint complaints (low- to very low-certainty evidence).
AUTHORS' CONCLUSIONS
The evidence regarding strength training and aerobic exercise interventions remains uncertain. Evidence suggests that strength training alone may have little or no effect, and that aerobic exercise training alone may lead to a possible improvement in aerobic capacity, but only for participants with FSHD. For combined aerobic exercise and strength training, there may be slight increases in muscle strength and aerobic capacity for people with dermatomyositis and polymyositis, and a slight decrease in aerobic capacity and increase in muscle strength for people with juvenile dermatomyositis. More research with robust methodology and greater numbers of participants is still required.
Topics: Dermatomyositis; Exercise; Exercise Tolerance; Humans; Muscle Strength; Muscular Diseases; Muscular Dystrophies; Muscular Dystrophy, Facioscapulohumeral; Myotonic Dystrophy; Physical Fitness; Polymyositis; Randomized Controlled Trials as Topic; Resistance Training
PubMed: 31808555
DOI: 10.1002/14651858.CD003907.pub5 -
Journal of Clinical Sleep Medicine :... Sep 2021This guideline establishes clinical practice recommendations for the treatment of central disorders of hypersomnolence in adults and children.
INTRODUCTION
This guideline establishes clinical practice recommendations for the treatment of central disorders of hypersomnolence in adults and children.
METHODS
The American Academy of Sleep Medicine commissioned a task force of experts in sleep medicine to develop recommendations and assign strengths to each recommendation, based on a systematic review of the literature and an assessment of the evidence using the GRADE process. The task force provided a summary of the relevant literature and the quality of evidence, the balance of benefits and harms, patient values and preferences, and resource use considerations that support the recommendations. The AASM Board of Directors approved the final recommendations.
RECOMMENDATIONS
The following recommendations are intended to guide clinicians in choosing a specific treatment for central disorders of hypersomnolence in adults and children. Each recommendation statement is assigned a strength ("strong" or "conditional"). A "strong" recommendation (ie, "We recommend…") is one that clinicians should follow under most circumstances. A "conditional" recommendation (ie, "We suggest…") is one that requires that the clinician use clinical knowledge and experience and strongly consider the individual patient's values and preferences to determine the best course of action. Under each disorder, strong recommendations are listed in alphabetical order followed by the conditional recommendations in alphabetical order. The section on adult patients with hypersomnia because of medical conditions is categorized based on the clinical and pathological subtypes identified in ICSD-3. The interventions in all the recommendation statements were compared to no treatment.
1
We recommend that clinicians use modafinil for the treatment of narcolepsy in adults. (STRONG).
2
We recommend that clinicians use pitolisant for the treatment of narcolepsy in adults. (STRONG).
3
We recommend that clinicians use sodium oxybate for the treatment of narcolepsy in adults. (STRONG).
4
We recommend that clinicians use solriamfetol for the treatment of narcolepsy in adults. (STRONG).
5
We suggest that clinicians use armodafinil for the treatment of narcolepsy in adults. (CONDITIONAL).
6
We suggest that clinicians use dextroamphetamine for the treatment of narcolepsy in adults. (CONDITIONAL).
7
We suggest that clinicians use methylphenidate for the treatment of narcolepsy in adults. (CONDITIONAL).
8
We recommend that clinicians use modafinil for the treatment of idiopathic hypersomnia in adults. (STRONG).
9
We suggest that clinicians use clarithromycin for the treatment of idiopathic hypersomnia in adults. (CONDITIONAL).
10
We suggest that clinicians use methylphenidate for the treatment of idiopathic hypersomnia in adults. (CONDITIONAL).
11
We suggest that clinicians use pitolisant for the treatment of idiopathic hypersomnia in adults. (CONDITIONAL).
12
We suggest that clinicians use sodium oxybate for the treatment of idiopathic hypersomnia in adults. (CONDITIONAL).
13
We suggest that clinicians use lithium for the treatment of Kleine-Levin syndrome in adults. (CONDITIONAL).
14
We suggest that clinicians use armodafinil for the treatment of hypersomnia secondary to dementia with Lewy bodies in adults. (CONDITIONAL).
15
We suggest that clinicians use modafinil for the treatment of hypersomnia secondary to Parkinson's disease in adults. (CONDITIONAL).
16
We suggest that clinicians use sodium oxybate for the treatment of hypersomnia secondary to Parkinson's disease in adults. (CONDITIONAL).
17
We suggest that clinicians use armodafinil for the treatment of hypersomnia secondary to traumatic brain injury in adults. (CONDITIONAL).
18
We suggest that clinicians use modafinil for the treatment of hypersomnia secondary to traumatic brain injury in adults. (CONDITIONAL).
19
We suggest that clinicians use modafinil for the treatment of hypersomnia secondary to myotonic dystrophy in adults. (CONDITIONAL).
20
We suggest that clinicians use modafinil for the treatment of hypersomnia secondary to multiple sclerosis in adults. (CONDITIONAL).
21
We suggest that clinicians use modafinil for the treatment of narcolepsy in pediatric patients. (CONDITIONAL).
22
We suggest that clinicians use sodium oxybate for the treatment of narcolepsy in pediatric patients. (CONDITIONAL).
CITATION
Maski K, Trotti LM, Kotagal S, et al. Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine clinical practice guideline. . 2021;17(9):1881-1893.
Topics: Adult; Child; Disorders of Excessive Somnolence; Humans; Idiopathic Hypersomnia; Modafinil; Narcolepsy; Sleep; United States
PubMed: 34743789
DOI: 10.5664/jcsm.9328 -
Neuroepidemiology 2022Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Myotonic dystrophy (DM), the most common muscular dystrophy in adults, is a group of autosomal inherited neuromuscular disorders characterized by progressive muscle weakness, myotonia, and cardiac conduction abnormalities. Due to the different gene mutations, DM has been subclassified into DM type 1 (DM1) and type 2 (DM2). However, the prevalence studies on DM and its subtypes are insufficient.
METHODS
The PubMed (1966-2022), MEDLINE (1950-2022), Web of Science (1864-2022), and Cochrane Library (2022) databases were searched for original research articles published in English. The quality of the included studies was assessed by a checklist adapted from Strengthening the Reporting of Observational studies in Epidemiology. To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random-effects model. Heterogeneity was assessed using the Cochrane Q statistic and the I2 statistic.
RESULTS
A total of 17 studies were included in the systematic review and meta-analysis. Of the 17 studies evaluated, 14 studies were considered medium quality, 2 studies were considered high quality, and 1 study was considered low quality. The global prevalence of DM varied widely from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM was 9.99 cases (95% CI: 5.62-15.53) per 100,000. The pooled estimate of the prevalence of DM1 was 9.27 cases (95% CI: 4.73-15.21) per 100,000, ranging from 0.37 to 36.29 cases per 100,000. The pooled estimate of the prevalence of DM2 was 2.29 cases (95% CI: 0.17-6.53) per 100,000, ranging from 0.00 to 24.00 cases per 100,000.
CONCLUSION
Our study provided accurate estimates of the prevalence of DM. The high heterogeneity and the lack of high-quality studies highlight the need to conduct higher quality studies on orphan diseases.
Topics: Adult; Humans; Myotonic Dystrophy; Prevalence
PubMed: 35483324
DOI: 10.1159/000524734 -
Journal of Clinical Sleep Medicine :... Sep 2021This systematic review provides supporting evidence for the accompanying clinical practice guideline on the treatment of central disorders of hypersomnolence in adults... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
This systematic review provides supporting evidence for the accompanying clinical practice guideline on the treatment of central disorders of hypersomnolence in adults and children. The review focuses on prescription medications with U.S. Food & Drug Administration approval and nonpharmacologic interventions studied for the treatment of symptoms caused by central disorders of hypersomnolence.
METHODS
The American Academy of Sleep Medicine commissioned a task force of experts in sleep medicine to perform a systematic review. Randomized controlled trials and observational studies addressing pharmacological and nonpharmacological interventions for central disorders of hypersomnolence were identified. Statistical analyses were performed to determine the clinical significance of all outcomes. Finally, the Grading of Recommendations Assessment, Development and Evaluation (GRADE) process was used to assess the evidence for the purpose of making specific treatment recommendations.
RESULTS
The literature search identified 678 studies; 144 met the inclusion criteria and 108 provided data suitable for statistical analyses. Evidence for the following interventions is presented: armodafinil, clarithromycin, clomipramine, dextroamphetamine, flumazenil, intravenous immune globulin (IVIG), light therapy, lithium, l-carnitine, liraglutide, methylphenidate, methylprednisolone, modafinil, naps, pitolisant, selegiline, sodium oxybate, solriamfetol, and triazolam. The task force provided a detailed summary of the evidence along with the quality of evidence, the balance of benefits and harms, patient values and preferences, and resource use considerations.
CITATION
Maski K, Trotti LM, Kotagal S, et al. Treatment of central disorders of hypersomnolence: an American Academy of Sleep Medicine systematic review, meta-analysis, and GRADE assessment. 2021;17(9):1895-1945.
Topics: Adult; Child; Disorders of Excessive Somnolence; GRADE Approach; Humans; Modafinil; Sleep; Sodium Oxybate; United States
PubMed: 34743790
DOI: 10.5664/jcsm.9326 -
Journal of Infection in Developing... Feb 2023Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological... (Review)
Review
INTRODUCTION
Steinert's disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological complications often leading patients to exitus. These conditions are also traditional risk factors for severe COVID-19. SARS-CoV-2 has affected people with chronic diseases, but the impact on people with Steinert's disease is poorly defined, with only a few reported and described. More data are needed to understand whether this genetic disease is a risk factor for more serious evolution or death in patients with COVID-19.
METHODOLOGY
The study describes two cases of patients with SD and COVID-19 and summarizes available evidence of the clinical outcome of COVID-19 in patients with Steinert's disease, by performing a systematic review of the literature (following PRISMA statements and performing PROSPERO registration).
RESULTS
Overall, 5 cases were retrieved from the literature review, with a median age of 47 years, of whom 4 had advanced SD and unfortunately died. By contrast, the 2 patients from our clinical practice and 1 from literature had a good clinical outcomes. Mortality ranged from 57% (all cases) to 80% (only literature review).
CONCLUSIONS
There is a high mortality rate in patients with both Steinert's disease and COVID-19. It highlights the importance of strengthening prevention strategies, especially vaccination. All SD with SARS-CoV-2 infection/COVID-19 patients should be identified early and treated to avoid complications. It is still unknown which treatment regimen is best to use in those patients. Studies on a greater number of patients are necessary to provide clinicians with further evidence.
Topics: Humans; Middle Aged; Myotonic Dystrophy; COVID-19; SARS-CoV-2
PubMed: 36897899
DOI: 10.3855/jidc.15653 -
The Cochrane Database of Systematic... May 2021The World Health Organization (WHO) recommends that people of all ages take regular and adequate physical activity. If unable to meet the recommendations due to health...
BACKGROUND
The World Health Organization (WHO) recommends that people of all ages take regular and adequate physical activity. If unable to meet the recommendations due to health conditions, international guidance advises being as physically active as possible. Evidence from community interventions of physical activity indicate that people living with medical conditions are sometimes excluded from participation in studies. In this review, we considered the effects of activity-promoting interventions on physical activity and well-being in studies, as well as any adverse events experienced by participants living with inherited or acquired neuromuscular diseases (NMDs). OBJECTIVES: To assess the effects of interventions designed to promote physical activity in people with NMD compared with no intervention or alternative interventions.
SEARCH METHODS
On 30 April 2020, we searched Cochrane Neuromuscular Specialised Register, CENTRAL, Embase, MEDLINE, and ClinicalTrials.Gov. WHO ICTRP was not accessible at the time.
SELECTION CRITERIA
We considered randomised or quasi-randomised trials, including cross-over trials, of interventions designed to promote physical activity in people with NMD compared to no intervention or alternative interventions. We specifically included studies that reported physical activity as an outcome measure. Our main focus was studies in which promoting physical activity was a stated aim but we also included studies in which physical activity was assessed as a secondary or exploratory outcome.
DATA COLLECTION AND ANALYSIS
We used standard Cochrane procedures.
MAIN RESULTS
The review included 13 studies (795 randomised participants from 12 studies; number of participants unclear in one study) of different interventions to promote physical activity. Most studies randomised a minority of invited participants. No study involved children or adolescents and nine studies reported minimal entry criteria for walking. Participants had one of nine inherited or acquired NMDs. Types of intervention included structured physical activity support, exercise support (as a specific form of physical activity), and behaviour change support that included physical activity or exercise. Only one included study clearly reported that the aim of intervention was to increase physical activity. Other studies reported or planned to analyse the effects of intervention on physical activity as a secondary or exploratory outcome measure. Six studies did not report results for physical activity outcomes, or the data were not usable. We judged 10 of the 13 included studies at high or unclear risk of bias from incomplete physical activity outcome reporting. We did not perform a meta-analysis for any comparison because of differences in interventions and in usual care. We also found considerable variation in how studies reported physical activity as an outcome measure. The studies that reported physical activity measurement did not always clearly report intention-to-treat (ITT) analysis or whether final assessments occurred during or after intervention. Based on prespecified measures, we included three comparisons in our summary of findings. A physical activity programme (weight-bearing) compared to no physical activity programme One study involved adults with diabetic peripheral neuropathy (DPN) and reported weekly duration of walking during and at the end of a one-year intervention using a StepWatch ankle accelerometer. Based on the point estimate and low-certainty evidence, intervention may have led to an important increase in physical activity per week; however, the 95% confidence interval (CI) included the possibility of no difference or an effect in either direction at three months (mean difference (MD) 34 minutes per week, 95% CI -92.19 to 160.19; 69 participants), six months (MD 68 minutes per week, 95% CI -55.35 to 191.35; 74 participants), and 12 months (MD 49 minutes per week, 95% CI -75.73 to 173.73; 70 participants). Study-reported effect estimates for foot lesions and full-thickness ulcers also included the possibility of no difference, a higher, or lower risk with intervention. A sensor-based, interactive exercise programme compared to no sensor-based, interactive exercise programme One study involved adults with DPN and reported duration of walking over 48 hours at the end of four weeks' intervention using a t-shirt embedded PAMSys sensor. It was not possible to draw conclusions about the effectiveness of the intervention from the very low-certainty evidence (MD -0.64 hours per 48 hours, 95% CI -2.42 to 1.13; 25 participants). We were also unable to draw conclusions about impact on the Physical Component Score (PCS) for quality of life (MD 0.24 points, 95% CI -5.98 to 6.46; 35 participants; very low-certainty evidence), although intervention may have made little or no difference to the Mental Component Score (MCS) for quality of life (MD 5.10 points, 95% CI -0.58 to 10.78; 35 participants; low-certainty evidence). A functional exercise programme compared to a stretching exercise programme One study involved adults with spinal and bulbar muscular atrophy and reported a daily physical activity count at the end of 12 weeks' intervention using an Actical accelerometer. It was not possible to draw conclusions about the effectiveness of either intervention (requiring compliance) due to low-certainty evidence and unconfirmed measurement units (MD -8701, 95% CI -38,293.30 to 20,891.30; 43 participants). Functional exercise may have made little or no difference to quality of life compared to stretching (PCS: MD -1.10 points, 95% CI -5.22 to 3.02; MCS: MD -1.10 points, 95% CI -6.79 to 4.59; 49 participants; low-certainty evidence). Although studies reported adverse events incompletely, we found no evidence of supported activity increasing the risk of serious adverse events.
AUTHORS' CONCLUSIONS
We found a lack of evidence relating to children, adolescents, and non-ambulant people of any age. Many people living with NMD did not meet randomised controlled trial eligibility criteria. There was variation in the components of supported activity intervention and usual care, such as physical therapy provision. We identified variation among studies in how physical activity was monitored, analysed, and reported. We remain uncertain of the effectiveness of promotional intervention for physical activity and its impact on quality of life and adverse events. More information is needed on the ITT population, as well as more complete reporting of outcomes. While there may be no single objective measure of physical activity, the study of qualitative and dichotomous change in self-reported overall physical activity might offer a pragmatic approach to capturing important change at an individual and population level.
Topics: Bias; Exercise; Health Promotion; Humans; Muscle Stretching Exercises; Neuromuscular Diseases; Outcome Assessment, Health Care; Quality of Life; Randomized Controlled Trials as Topic; Resistance Training; Time Factors; Walking
PubMed: 34027632
DOI: 10.1002/14651858.CD013544.pub2 -
Journal of Neuromuscular Diseases 2023Muscular dystrophies (MDs) are characterized by chronic muscle wasting but also poorly understood metabolic co-morbidities. We have recently shown that Duchenne MD (DMD)... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Muscular dystrophies (MDs) are characterized by chronic muscle wasting but also poorly understood metabolic co-morbidities. We have recently shown that Duchenne MD (DMD) patients, dogs and asymptomatic carriers are affected by a new form of dyslipidemia that may exacerbate muscle damage.
OBJECTIVE
We aimed to perform a systematic review and meta-analysis for evidence that other types of MDs are associated with dyslipidemia compared to healthy controls.
METHODS
Search was conducted using MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials for reports that compare plasma/serum lipids from MD patients and controls, and meta-analysis of cross-sectional studies quantifying total cholesterol, high-density lipoprotein, low density lipoprotein and triglycerides was performed.
RESULTS
Out of 749 studies, 17 met our inclusion criteria for meta-analysis. 14 of the 17 studies (82%) included investigated myotonic dystrophy (DM); other studies were on pseudohypertrophic MD (PMD) or DMD. As a whole, MD individuals had significantly higher levels of circulating total cholesterol (Hedges' g with 95% confidence interval [CI], 0.80 [0.03 - 1.56]; p = 0.04) and triglycerides (Hedges' g with 95% confidence interval [CI], 2.28[0.63 - 3.92]; p = 0.01) compared to controls. Meta-regression analysis showed the percentage of male gender was significantly associated with the difference in total cholesterol (beta = 0.05; 95% CI, - 0.02 to 0.11; p = 0.043) and high-density lipoprotein (beta = - 9.38; 95% CI, - 16.26 to - 2.50; p = 0.028).
CONCLUSIONS
MD is associated with significantly higher circulating levels of total cholesterol and triglycerides. However, caution on the interpretation of these findings is warranted and future longitudinal research is required to better understand this relationship.
Topics: Male; Cholesterol; Cross-Sectional Studies; Dyslipidemias; Lipoproteins, HDL; Muscular Dystrophies; Triglycerides; Female; Humans
PubMed: 37182897
DOI: 10.3233/JND-230064 -
Cureus Dec 2021Cobb's tufts, also known as iris vascular tufts (IVT) and iris microhemangiomas (IMH), are coils of tightly clustered, minute blood vessels at the iris... (Review)
Review
Cobb's tufts, also known as iris vascular tufts (IVT) and iris microhemangiomas (IMH), are coils of tightly clustered, minute blood vessels at the iris pupillary border. This study aimed to analyze previous literature and provide an update on Cobb's tufts. A systematic literature review was carried out by interrogating PubMed, Google Scholar, Cochrane, and Embase databases. Full-text English language articles of any year were included in this study. A total of 38 articles fulfilled our inclusion criteria. A total of 115 reported cases of Cobb's tufts were incorporated into our review. The age of the patients ranged between 36 and 86 years. No sex or racial predisposition was noted. Most patients had no history of trauma, surgery, or blood dyscrasia. The majority of cases are asymptomatic and bilateral unless a spontaneous hyphema occurs, which most commonly presents as blurred vision. The etiology of this condition remains uncertain; however, a higher incidence has been shown in systemic conditions such as myotonic dystrophy and diabetes. Fluorescein angiography can be utilized to investigate tufts. Management includes treatment of raised intraocular pressure, observation for single bleeds, laser therapy for recurrent hyphemas, and lastly, iridectomy, which is considered in cases of recurrence following laser treatment.
PubMed: 35003982
DOI: 10.7759/cureus.20151 -
International Journal of Molecular... Feb 2023Among the most common muscular dystrophies in adults is Myotonic Dystrophy type 1 (DM1), an autosomal dominant disorder characterized by myotonia, muscle wasting and... (Review)
Review
Among the most common muscular dystrophies in adults is Myotonic Dystrophy type 1 (DM1), an autosomal dominant disorder characterized by myotonia, muscle wasting and weakness, and multisystemic dysfunctions. This disorder is caused by an abnormal expansion of the CTG triplet at the gene that, when transcribed to expanded mRNA, can lead to RNA toxic gain of function, alternative splicing impairments, and dysfunction of different signaling pathways, many regulated by protein phosphorylation. In order to deeply characterize the protein phosphorylation alterations in DM1, a systematic review was conducted through PubMed and Web of Science databases. From a total of 962 articles screened, 41 were included for qualitative analysis, where we retrieved information about total and phosphorylated levels of protein kinases, protein phosphatases, and phosphoproteins in DM1 human samples and animal and cell models. Twenty-nine kinases, 3 phosphatases, and 17 phosphoproteins were reported altered in DM1. Signaling pathways that regulate cell functions such as glucose metabolism, cell cycle, myogenesis, and apoptosis were impaired, as seen by significant alterations to pathways such as AKT/mTOR, MEK/ERK, PKC/CUGBP1, AMPK, and others in DM1 samples. This explains the complexity of DM1 and its different manifestations and symptoms, such as increased insulin resistance and cancer risk. Further studies can be done to complement and explore in detail specific pathways and how their regulation is altered in DM1, to find what key phosphorylation alterations are responsible for these manifestations, and ultimately to find therapeutic targets for future treatments.
Topics: Animals; Adult; Humans; Myotonic Dystrophy; Phosphorylation; Alternative Splicing; RNA, Messenger; Muscular Atrophy; Muscle, Skeletal
PubMed: 36834509
DOI: 10.3390/ijms24043091 -
Neurology Aug 2017To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1). (Review)
Review
OBJECTIVE
To systematically review brain imaging studies in myotonic dystrophy type 1 (DM1).
METHODS
We searched Embase (index period 1974-2016) and MEDLINE (index period 1946-2016) for studies in patients with DM1 using MRI, magnetic resonance spectroscopy (MRS), functional MRI (fMRI), CT, ultrasound, PET, or SPECT. From 81 studies, we extracted clinical characteristics, primary outcomes, clinical-genetic correlations, and information on potential risk of bias. Results were summarized and pooled prevalence of imaging abnormalities was calculated, where possible.
RESULTS
In DM1, various imaging changes are widely dispersed throughout the brain, with apparently little anatomical specificity. We found general atrophy and widespread gray matter volume reductions in all 4 cortical lobes, the basal ganglia, and cerebellum. The pooled prevalence of white matter hyperintensities is 70% (95% CI 64-77), compared with 6% (95% CI 3-12) in unaffected controls. DTI shows increased mean diffusivity in all 4 lobes and reduced fractional anisotropy in virtually all major association, projection, and commissural white matter tracts. Functional studies demonstrate reduced glucose uptake and cerebral perfusion in frontal, parietal, and temporal lobes, and abnormal fMRI connectivity patterns that correlate with personality traits. There is significant between-study heterogeneity in terms of imaging methods, which together with the established clinical variability of DM1 may explain divergent results. Longitudinal studies are remarkably scarce.
CONCLUSIONS
DM1 brains show widespread white and gray matter involvement throughout the brain, which is supported by abnormal resting-state network, PET/SPECT, and MRS parameters. Longitudinal studies evaluating spatiotemporal imaging changes are essential.
Topics: Brain; Humans; Myotonic Dystrophy; Neuroimaging
PubMed: 28768849
DOI: 10.1212/WNL.0000000000004300