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EFORT Open Reviews Jun 2021A consensus is beginning to emerge about the indications for fixation of fractures involving the glenoid fossa of the scapula. The same cannot be firmly said for... (Review)
Review
A consensus is beginning to emerge about the indications for fixation of fractures involving the glenoid fossa of the scapula. The same cannot be firmly said for extra-articular fractures of the blade or the processes of the scapula, with a good deal of reliance on expert opinion from high-volume centres. There are no randomized controlled studies and the systematic reviews that do exist can only pool the data from available case series, making meaningful meta-analysis of limited value. Interest in scapula fractures has increased of late due to the specific association of fractures of the scapular spine and acromion with reverse shoulder arthroplasty.This review summarizes the available evidence that can assist decision making when faced with a patient with a scapula fracture. Which patients should at least be considered for open reduction and internal fixation, either in the centre where they present or after referral to a more specialist centre? These patients are those with a fracture sufficiently displaced that it interferes with the mechanical function of the shoulder girdle and the aim of fixation is to reduce pain and disability.Since the majority of scapula fractures heal quickly with non-surgical treatment and do not cause significant disability, decision making can be difficult, and it is perhaps the case that it is easier to err on the side of caution.However, it seems that there are fracture types, such as significantly displaced double disruptions of the superior suspensory complex, widely displaced lateral column fractures and fractures producing angular deformity of the glenoid process, that benefit from early reduction and stabilization with the expectation of a good outcome for the patient. Cite this article: 2021;6:518-525. DOI: 10.1302/2058-5241.6.210010.
PubMed: 34267942
DOI: 10.1302/2058-5241.6.210010 -
Annals of Physical and Rehabilitation... Jan 2021Several studies reported the importance of glenohumeral and scapular muscle activity and scapular kinematics in multidirectional shoulder instability (MDI), yet a... (Review)
Review
BACKGROUND
Several studies reported the importance of glenohumeral and scapular muscle activity and scapular kinematics in multidirectional shoulder instability (MDI), yet a systematic overview is currently lacking.
OBJECTIVE
This systematic review evaluates and summarizes the evidence regarding muscle activity and shoulder kinematics in individuals with MDI compared to healthy controls.
METHOD
The electronic databases PubMed and Web of Science were searched in September 2020 with key words regarding MDI (population), muscle activity, and glenohumeral and scapular movement patterns (outcomes). All studies that compared muscle activity or scapular kinematics between shoulders with MDI and healthy shoulders were eligible for this review, except for case reports and case series. All articles were screened on the title and abstract, and remaining eligible articles were screened on full text. The risk of bias of included articles was assessed by a checklist for case-control data, as advised by the Cochrane collaboration.
RESULTS
After full text screening, 12 articles remained for inclusion and one study was obtained by hand search. According to the guidelines of the Dutch Institute for Healthcare Improvement, most studies were of moderate methodological quality. We found moderate evidence that MDI individuals show increased or prolonged activity of several rotator cuff muscles that control and centre the humeral head. Furthermore, we found evidence of decreased and/or shortened activity of muscles that move or accelerate the arm and shoulder girdle as well as increased and/or lengthened activity of muscles that decelerate the arm and shoulder girdle. The most consistent kinematic finding was that MDI individuals show significantly less upward rotation and more internal rotation of the scapula during elevation of the arm in the scapular plane as compared with controls. Finally, several studies also suggest that the humeral head demonstrates increased translations relative to the glenoid surface.
CONCLUSION
There is moderate evidence for altered muscle activity and altered humeral and scapular kinematics in MDI individuals as compared with controls.
Topics: Biomechanical Phenomena; Humans; Joint Instability; Muscle, Skeletal; Range of Motion, Articular; Scapula; Shoulder; Shoulder Joint
PubMed: 33221471
DOI: 10.1016/j.rehab.2020.10.008 -
Journal of Neuromuscular Diseases 2022Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.
BACKGROUND
Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.
OBJECTIVE
This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon.
METHODS
Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999-2019) was reviewed.
RESULTS
A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17% of patients). These disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5% of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided.
CONCLUSIONS
Our study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.
Topics: Adolescent; Adult; Charcot-Marie-Tooth Disease; Child; Child, Preschool; Female; Humans; Infant; Lebanon; Male; Middle Aged; Motor Neuron Disease; Muscular Atrophy, Spinal; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle; Muscular Dystrophy, Duchenne; Retrospective Studies; Young Adult
PubMed: 34602496
DOI: 10.3233/JND-210652 -
Genetics in Medicine : Official Journal... Sep 2020Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is...
PURPOSE
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology.
METHODS
Exome sequencing was applied to 1001 undiagnosed patients recruited from more than 40 neuromuscular disease referral centers; standardized phenotypic information was collected for each patient. Exomes were examined for variants in 429 genes associated with muscle conditions.
RESULTS
We identified suspected pathogenic variants in 52% of patients across 87 genes. We detected 401 novel variants, 116 of which were recurrent. Variants in CAPN3, DYSF, ANO5, DMD, RYR1, TTN, COL6A2, and SGCA collectively accounted for over half of the solved cases; while variants in newer disease genes, such as BVES and POGLUT1, were also found. The remaining well-characterized unsolved patients (48%) need further investigation.
CONCLUSION
Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes.
Topics: Anoctamins; Exome; Glucosyltransferases; Humans; Muscular Dystrophies, Limb-Girdle; Exome Sequencing
PubMed: 32528171
DOI: 10.1038/s41436-020-0840-3 -
The British Journal of Radiology Sep 2019Scapulothoracic dissociation is a rare and potentially limb- and life-threatening injury, that results from high-energy trauma. Scapulothoracic dissociation has the... (Review)
Review
Scapulothoracic dissociation is a rare and potentially limb- and life-threatening injury, that results from high-energy trauma. Scapulothoracic dissociation has the potential to be overlooked in the acute setting, especially in the setting of polytrauma. Therefore, a careful search for this condition should be performed in all patients with high-energy shoulder girdle injuries. The goals of this article are to review the anatomy of the scapulothoracic articulation as well as the spectrum, imaging evaluation, differential diagnosis and management of scapulothoracic dissociations.
Topics: Diagnosis, Differential; Diagnostic Imaging; Humans; Multiple Trauma; Scapula; Shoulder Injuries
PubMed: 31046412
DOI: 10.1259/bjr.20190090 -
Proceedings of the National Academy of... Feb 2023Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert their beneficial effect by inhibiting HMG CoA-reductase, the...
Myopathy is the main adverse effect of the widely prescribed statin drug class. Statins exert their beneficial effect by inhibiting HMG CoA-reductase, the rate-controlling enzyme of the mevalonate pathway. The mechanism of statin myopathy is yet to be resolved, and its treatment is insufficient. Through homozygosity mapping and whole exome sequencing, followed by functional analysis using confocal microscopy and biochemical and biophysical methods, we demonstrate that a distinct form of human limb girdle muscular disease is caused by a pathogenic homozygous loss-of-function missense mutation in HMG CoA reductase (), encoding HMG CoA-reductase We biochemically synthesized and purified mevalonolactone, never administered to human patients before, and establish the safety of its oral administration in mice. We then show that its oral administration is effective in treating a human patient with no significant adverse effects. Furthermore, we demonstrate that oral mevalonolactone resolved statin-induced myopathy in mice. We conclude that mutation causes a late-onset severe progressive muscular disease, which shows similar features to statin-induced myopathy. Our findings indicate that mevalonolactone is effective both in the treatment of hereditary myopathy and in a murine model of statin myopathy. Further large clinical trials are in place to enable the clinical use of mevalonolactone both in the rare orphan disease and in the more common statin myopathy.
Topics: Animals; Humans; Mice; Autoantibodies; Hydroxymethylglutaryl CoA Reductases; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Mevalonic Acid; Muscular Diseases; Mutation
PubMed: 36745799
DOI: 10.1073/pnas.2217831120 -
The Cochrane Database of Systematic... Sep 2019Neuromuscular diseases (NMDs) are a heterogeneous group of diseases affecting the anterior horn cell of spinal cord, neuromuscular junction, peripheral nerves and...
BACKGROUND
Neuromuscular diseases (NMDs) are a heterogeneous group of diseases affecting the anterior horn cell of spinal cord, neuromuscular junction, peripheral nerves and muscles. NMDs cause physical disability usually due to progressive loss of strength in limb muscles, and some NMDs also cause respiratory muscle weakness. Respiratory muscle training (RMT) might be expected to improve respiratory muscle weakness; however, the effects of RMT are still uncertain. This systematic review will synthesize the available trial evidence on the effectiveness and safety of RMT in people with NMD, to inform clinical practice.
OBJECTIVES
To assess the effects of respiratory muscle training (RMT) for neuromuscular disease (NMD) in adults and children, in comparison to sham training, no training, standard treatment, breathing exercises, or other intensities or types of RMT.
SEARCH METHODS
On 19 November 2018, we searched the Cochrane Neuromuscular Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, and Embase. On 23 December 2018, we searched the US National Institutes for Health Clinical Trials Registry (ClinicalTrials.gov), the World Health Organization International Clinical Trials Registry Platform, and reference lists of the included studies.
SELECTION CRITERIA
We included randomized controlled trials (RCTs) and quasi-RCTs, including cross-over trials, of RMT in adults and children with a diagnosis of NMD of any degree of severity, who were living in the community, and who did not need mechanical ventilation. We compared trials of RMT (inspiratory muscle training (IMT) or expiratory muscle training (EMT), or both), with sham training, no training, standard treatment, different intensities of RMT, different types of RMT, or breathing exercises.
DATA COLLECTION AND ANALYSIS
We followed standard Cochrane methodological procedures.
MAIN RESULTS
We included 11 studies involving 250 randomized participants with NMDs: three trials (N = 88) in people with amyotrophic lateral sclerosis (ALS; motor neuron disease), six trials (N = 112) in Duchenne muscular dystrophy (DMD), one trial (N = 23) in people with Becker muscular dystrophy (BMD) or limb-girdle muscular dystrophy, and one trial (N = 27) in people with myasthenia gravis.Nine of the trials were at high risk of bias in at least one domain and many reported insufficient information for accurate assessment of the risk of bias. Populations, interventions, control interventions, and outcome measures were often different, which largely ruled out meta-analysis. All included studies assessed lung capacity, our primary outcome, but four did not provide data for analysis (1 in people with ALS and three cross-over studies in DMD). None provided long-term data (over a year) and only one trial, in ALS, provided information on adverse events. Unscheduled hospitalisations for chest infection or acute exacerbation of chronic respiratory failure were not reported and physical function and quality of life were reported in one (ALS) trial.Amyotrophic lateral sclerosis (ALS)Three trials compared RMT versus sham training in ALS. Short-term (8 weeks) effects of RMT on lung capacity in ALS showed no clear difference in the change of the per cent predicted forced vital capacity (FVC%) between EMT and sham EMT groups (mean difference (MD) 0.70, 95% confidence interval (CI) -8.48 to 9.88; N = 46; low-certainty evidence). The mean difference (MD) in FVC% after four months' treatment was 10.86% in favour of IMT (95% CI -4.25 to 25.97; 1 trial, N = 24; low-certainty evidence), which is larger than the minimal clinically important difference (MCID, as estimated in people with idiopathic pulmonary fibrosis). There was no clear difference between IMT and sham IMT groups, measured on the Amyotrophic Lateral Sclerosis Functional Rating Scale (ALFRS; range of possible scores 0 = best to 40 = worst) (MD 0.85, 95% CI -2.16 to 3.85; 1 trial, N = 24; low-certainty evidence) or quality of life, measured on the EuroQol-5D (0 = worst to 100 = best) (MD 0.77, 95% CI -17.09 to 18.62; 1 trial, N = 24; low-certainty evidence) over the medium term (4 months). One trial report stated that the IMT protocol had no adverse effect (very low-certainty evidence).Duchenne muscular dystrophy (DMD)Two DMD trials compared RMT versus sham training in young males with DMD. In one study, the mean post-intervention (6-week) total lung capacity (TLC) favoured RMT (MD 0.45 L, 95% CI -0.24 to 1.14; 1 trial, N = 16; low-certainty evidence). In the other trial there was no clear difference in post-intervention (18 days) FVC between RMT and sham RMT (MD 0.16 L, 95% CI -0.31 to 0.63; 1 trial, N = 20; low-certainty evidence). One RCT and three cross-over trials compared a form of RMT with no training in males with DMD; the cross-over trials did not provide suitable data. Post-intervention (6-month) values showed no clear difference between the RMT and no training groups in per cent predicted vital capacity (VC%) (MD 3.50, 95% CI -14.35 to 21.35; 1 trial, N = 30; low-certainty evidence).Becker or limb-girdle muscular dystrophyOne RCT (N = 21) compared 12 weeks of IMT with breathing exercises in people with Becker or limb-girdle muscular dystrophy. The evidence was of very low certainty and conclusions could not be drawn.Myasthenia gravisIn myasthenia gravis, there may be no clear difference between RMT and breathing exercises on measures of lung capacity, in the short term (TLC MD -0.20 L, 95% CI -1.07 to 0.67; 1 trial, N = 27; low-certainty evidence). Effects of RMT on quality of life are uncertain (1 trial; N = 27).Some trials reported effects of RMT on inspiratory and/or expiratory muscle strength; this evidence was also of low or very low certainty.
AUTHORS' CONCLUSIONS
RMT may improve lung capacity and respiratory muscle strength in some NMDs. In ALS there may not be any clinically meaningful effect of RMT on physical functioning or quality of life and it is uncertain whether it causes adverse effects. Due to clinical heterogeneity between the trials and the small number of participants included in the analysis, together with the risk of bias, these results must be interpreted very cautiously.
Topics: Adult; Breathing Exercises; Child; Exhalation; Humans; Muscle Weakness; Neuromuscular Diseases; Quality of Life; Randomized Controlled Trials as Topic; Vital Capacity
PubMed: 31487757
DOI: 10.1002/14651858.CD011711.pub2