-
Medicina (Kaunas, Lithuania) Feb 2022: Spinal muscular atrophy (SMA) is a neurodegenerative disease that leads to progressive proximal muscle weakness and muscle atrophy. To assess the beneficial and... (Meta-Analysis)
Meta-Analysis Review
: Spinal muscular atrophy (SMA) is a neurodegenerative disease that leads to progressive proximal muscle weakness and muscle atrophy. To assess the beneficial and adverse effects of nusinersen, a promising intervention for SMA, we conducted a systematic search and meta-analysis of the published randomized control trials (RCTs) of nusinersen for SMA. : Utilizing the Preferred Reporting for Systematic Review and Meta-Analysis (PRISMA), we searched PubMed, Scopus, Web of Science, Cochrane Central, and Clinicaltrials.gov from inception to 22 July 2021. : Three RCTs satisfying the inclusion and exclusion criteria covered 274 patients: 178 patients in the nusinersen group. Our results show a significant risk difference (RD) in the motor milestone response (RD: 0.51; 95% CI: 0.39, 0.62; < 0.00001) and improvement in the HINE-2 score (RD: 0.26; 95% CI: 0.12, 0.40; < 0.0003) in the nusinersen group compared to the control group. Moreover, a significant decrease in the risk ratio (RR) for severe adverse events (RR: 0.72; 95% CI: 0.57, 0.92; = 0.007) and any adverse event leading to treatment discontinuation (RR: 0.40; 95% CI: 0.22, 0.74; = 0.004) was observed. An insignificant result was found for any adverse effects (RR: 0.93; 95% CI: 0.97, 1.01; = 0.14) and for serious adverse effects (RR: 0.81; 95% CI: 0.60, 1.07; = 0.14). : This review provides evidence that nusinersen treatment was effective in treatment for infants with SMA and was associated with fewer severe adverse events; however, more RCTs are needed to establish evidence.
Topics: Humans; Infant; Muscular Atrophy, Spinal; Oligonucleotides; Randomized Controlled Trials as Topic; Treatment Outcome
PubMed: 35208537
DOI: 10.3390/medicina58020213 -
International Journal of Environmental... Aug 2022Neuromuscular diseases comprise a heterogeneous group of genetic syndromes that lead to progressive muscle weakness, resulting in functional limitation. There is a gap... (Review)
Review
INTRODUCTION
Neuromuscular diseases comprise a heterogeneous group of genetic syndromes that lead to progressive muscle weakness, resulting in functional limitation. There is a gap in the literature regarding the communication of the diagnosis of such diseases, compromising the autonomy of patients and families, besides causing stress on the assistant physician.
OBJECTIVES
Developing a guide to reduce communication barriers in the diagnosis of neuromuscular diseases.
METHODOLOGY
Systematic review, after searching the descriptors ("Muscular Diseases" OR "Neuromuscular Diseases") AND ("Truth Disclosure" OR "Bad news communication" OR "Breaking bad News") in the Pubmed, Bireme, and Scopus websites, and these results were analyzed through narrative textual synthesis.
RESULTS
16 articles were submitted to the final analysis, giving rise to seven steps to support the communication process. These are Empathy, Message, Prognosis, Reception, Time, Individualization, and Autonomy.
DISCUSSION AND CONCLUSION
The empathic transmission of the message and the prognosis must accommodate the feelings of the interlocutors with different information needs. In this way, communication planning optimizes the time and individualizes each context, respecting the autonomy of those involved. EMPATIA reflects the bioethical and interdisciplinary analysis of the literature and comes to fill the gap related to the communication of bad news in neuromuscular diseases.
Topics: Communication; Communication Barriers; Empathy; Humans; Physician-Patient Relations; Truth Disclosure
PubMed: 36011430
DOI: 10.3390/ijerph19169792 -
Hand (New York, N.Y.) Mar 2021To decrease the time to reinnervation of the intrinsic motor end plates after high ulnar nerve injuries, a supercharged end-to-side (SETS) anterior interosseous to...
To decrease the time to reinnervation of the intrinsic motor end plates after high ulnar nerve injuries, a supercharged end-to-side (SETS) anterior interosseous to ulnar motor nerve transfer has been proposed. The purpose of this study was to compile and review the indications, outcomes, and complications of SETS anterior interosseous to ulnar motor nerve transfer. A literature search was performed, identifying 73 papers; 4 of which met inclusion and exclusion criteria, including 78 patients. Papers included were those that contained the results of SETS between the years 2000 and 2018. Data were pooled and analyzed focusing on the primary outcomes: intrinsic muscle recovery and complications. Four studies with 78 patients met inclusion and exclusion criteria. Most patients (33.3%) underwent SETS for an ulnar nerve lesion in continuity, the average age was 46.5 years, and the average follow-up was 10 months. The average duration of symptoms before surgery was 99 weeks, all patients had weakness and numbness, nearly all (96%) had atrophy, and half (53%) had pain. Grip and key pinch strength improved 202% and 179%, respectively, from the preoperative assessment. The vast majority (91.9%) recovered intrinsic function at an average of 3.7 months. Other than 8% of patients who did not recover intrinsic strength, no other complications were reported in any of the 78 patients. The SETS is a successful procedure with low morbidity, which may restore intrinsic function in patients with proximal nerve injuries.
Topics: Arm; Hand Strength; Humans; Middle Aged; Nerve Transfer; Ulnar Nerve; Ulnar Neuropathies
PubMed: 30924361
DOI: 10.1177/1558944719836213 -
International Journal of Molecular... Jan 2023PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion... (Review)
Review
PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements, and epilepsy. It is generally considered to be central nervous system disorders, with generalized weakness, associated hypotonia, cognitive and development deficits in early development, and seizures in late stages. Although it is classified predominantly as a central nervous syndrome disorder, some phenotypic features, such as myopathic facies, respiratory insufficiency of muscle origin, and myopathic features on muscle biopsy and electrodiagnostic evaluation, point to a peripheral (neuromuscular) source of weakness. Patients with PURA-NDD have been increasingly identified in exome-sequenced cohorts of patients with neuromuscular- and congenital myasthenic syndrome-like phenotypes. Recently, fluctuating weakness noted in a PURA-NDD patient, accompanied by repetitive nerve stimulation abnormalities, suggested the disease to be a channelopathy and, more specifically, a neuromuscular junction disorder. Treatment with pyridostigmine or salbutamol led to clinical improvement of neuromuscular function in two reported cases. The goal of this systematic retrospective review is to highlight the motor symptoms of PURA-NDD, to further describe the neuromuscular phenotype, and to emphasize the role of potential treatment opportunities of the neuromuscular phenotype in the setting of the potential role of PURA protein in the neuromuscular junction and the muscles.
Topics: Humans; Neuromuscular Junction; Myasthenic Syndromes, Congenital; Neurodevelopmental Disorders; Learning Disabilities; Epilepsy; Muscle Hypotonia; Nervous System Malformations; DNA-Binding Proteins; Transcription Factors
PubMed: 36768582
DOI: 10.3390/ijms24032260 -
Therapeutic Advances in Respiratory... 2023Upper limb (UL) muscle dysfunction is a common extrapulmonary manifestation of chronic obstructive pulmonary disease (COPD). UL muscle dysfunction is associated with... (Meta-Analysis)
Meta-Analysis Review
The effects of upper limb exercise training on upper limb muscle strength in people with chronic obstructive pulmonary disease: a systematic review and meta-analysis of randomized controlled trials.
BACKGROUND
Upper limb (UL) muscle dysfunction is a common extrapulmonary manifestation of chronic obstructive pulmonary disease (COPD). UL muscle dysfunction is associated with muscle weakness, dyspnea, and exercise intolerance. Although upper limb exercise training (ULET) is typically incorporated in pulmonary rehabilitation programs, its effects on UL muscle strength remains unclear.
OBJECTIVES
The purpose of this systematic review was to investigate the effectiveness of ULET, in UL muscle strength of people with COPD.
DESIGN
This is systematic review and meta-analysis study.
DATA SOURCES AND METHODS
Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) Protocols 2020 guidelines were used for this study. PubMed, Cochrane, CINAHL Plus and SPORTDiscus and clinicaltrials.gov registry were searched from inception to July 2022. Included studies were randomized controlled trials, assessing the effectiveness in muscle strength of ULET, compared with other types of upper or lower limb exercise or no exercise. The quality and risk of bias were assessed using the Physiotherapy Evidence Database (PEDro) scale and certainty of evidence with the Grading of Recommendations, Assessment, Development, and Evaluations approach. Treatment effects of ULET were calculated using standardized mean differences and 95% confidence intervals.
RESULTS
Twenty-four studies, with a total sample of 882 patients, were included. Most studies were of moderate quality and high risk of bias. Very low to low certainty evidence indicates a significant difference in UL muscle strength in favor of resistance ULET, compared with lower limb exercise alone or no exercise. No significant differences were found in different types of ULET comparisons.
CONCLUSION
The results of this review showed that resistance ULET could improve UL muscle strength in people with COPD. Most studies, however, were of moderate quality and high risk of bias. Further studies with larger sample sizes, better methodological quality, and standardized training protocols are needed to confirm these findings.
Topics: Humans; Quality of Life; Randomized Controlled Trials as Topic; Pulmonary Disease, Chronic Obstructive; Exercise; Physical Therapy Modalities; Upper Extremity; Muscle Strength
PubMed: 37165688
DOI: 10.1177/17534666231170813 -
Journal of Orthopaedic Research :... Mar 2020Image-based assessments of quadriceps muscle size facilitate examination of structural changes after anterior cruciate ligament (ACL) injury and reconstruction (ACLR)....
Image-based assessments of quadriceps muscle size facilitate examination of structural changes after anterior cruciate ligament (ACL) injury and reconstruction (ACLR). Understanding the effects of ACLR on muscle size measures may aid in clarifying the contribution of quadriceps atrophy toward quadriceps strength. The purpose of this study was to systematically review the literature examining the effects of ACLR on quadriceps muscle volume and cross-sectional area (CSA). An online database search was conducted using Web of Science, SportDISCUS, PubMed (Medline), CINHAL (EBSCO), and Cochrane Library limited to articles published after January 1, 1980. Means and standard deviations were extracted for the ACLR limb and the contralateral limb, and sample characteristics from relevant articles. Magnitude of between limb differences were assessed using pooled effect sizes (Hedge's g) and 95% confidence intervals. Eleven articles (five CSA, six muscle volume) were included in this systematic review. Included studies reported negative effective sizes, indicating that the ACLR limb was smaller in CSA or muscle volume compared with the contralateral limb; however, 36% of the included articles reported meaningful difference between the limbs. Quadriceps atrophy may occur following ACL injury and persist after rehabilitation, however, the magnitude of these reductions may not be clinically meaningful and may only partially explain the persistent quadriceps weakness that is ubiquitous among this patient population. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:598-608, 2020.
Topics: Anterior Cruciate Ligament Injuries; Anterior Cruciate Ligament Reconstruction; Humans; Muscle Strength; Muscular Atrophy; Quadriceps Muscle; Rehabilitation; Risk
PubMed: 31608490
DOI: 10.1002/jor.24489 -
Orthopaedic Journal of Sports Medicine Jun 2020Quadriceps dysfunction after anterior cruciate ligament (ACL) reconstruction is common and may affect return to sport due to resulting muscle atrophy and muscle weakness. (Review)
Review
BACKGROUND
Quadriceps dysfunction after anterior cruciate ligament (ACL) reconstruction is common and may affect return to sport due to resulting muscle atrophy and muscle weakness.
PURPOSE
To systematically review the available literature regarding the impact of perioperative and postoperative interventions on quadriceps atrophy and loss of strength after ACL reconstruction.
STUDY DESIGN
Systematic review; Level of evidence, 3.
METHODS
A systematic review was performed in accordance with the 2009 PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines using PubMed, CINAHL, Cochrane Central, and Embase. The quality of evidence was evaluated using the Modified Coleman Methodology Score to determine consensus scores. Eligible level 1 or level 2 studies included interventions of perioperative nerve block, intraoperative tourniquet use, postoperative nutritional supplementation, and postoperative blood flow restriction training. Additionally, the included studies quantified postoperative quadriceps measurements such as thigh circumference, quadriceps cross-sectional area (CSA), isokinetic quadriceps strength, and/or quadriceps electromyographic (EMG) testing.
RESULTS
In total, 15 studies met stated inclusion and exclusion criteria with the following intervention types: perioperative nerve block (n = 4), intraoperative tourniquet use (n = 5), postoperative nutritional supplementation (n = 3), and postoperative blood flow restriction (n = 3). Intraoperative tourniquet use resulted in decreased thigh circumference and detrimental EMG changes in quadriceps function in 3 of the 5 included studies. Perioperative femoral nerve blocks were associated with transient decreases in postoperative quadriceps strength, persisting up to 6 weeks after surgery, in 2 of the 4 studies. Postoperative blood flow restriction training augmented quadriceps size and function after ACL reconstruction in 2 of 3 studies. Postoperative nutritional supplementation was associated with increased quadriceps volume and strength in 1 of the 3 studies examined.
CONCLUSION
The peri- and postoperative factors reviewed here may influence quadriceps atrophy and strength after ACL reconstruction. Our results tentatively indicated that blood flow restriction training may be beneficial to the quadriceps after ACL reconstruction and that intraoperative tourniquet use and nerve block administration may be detrimental; however, the strongest finding was that all of these interventions would benefit from further level 1 and 2 evidence studies, including multicenter, randomized controlled trials with extended follow-up, to definitively determine their impact on return to activity.
PubMed: 32647734
DOI: 10.1177/2325967120930296 -
Frontiers in Immunology 2021Myasthenia gravis (MG) is an autoimmune disease primarily mediated by acetylcholine receptor antibodies (AChR-Ab), cellular immune dependence, and complement system... (Review)
Review
Myasthenia gravis (MG) is an autoimmune disease primarily mediated by acetylcholine receptor antibodies (AChR-Ab), cellular immune dependence, and complement system involvement. Since the AChR on the postsynaptic membrane is destroyed by an immune attack, sufficient endplate potential cannot be generated, resulting in the development of a synaptic transmission disorder at the neuromuscular junction and in muscle weakness. The role of the complement system in MG has been demonstrated in animal models and clinical tests, and it has been determined that complement inhibition in patients with MG can prevent disease induction and reverse its progression. Eculizumab is a humanized monoclonal antibody that inhibits the cleavage of complement protein C5 and prevents autoimmune damage; additionally, it has received subsequent approval by the Federal Drug Administration of the United States for MG treatment. However, various concerns regarding the use of eculizumab persist. In this review, we have discussed the treatment time, cost effectiveness, long-term efficacy, and tolerability of eculizumab for MG treatment. We have also summarized historical information and have presented perspectives on this new therapeutic modality.
Topics: Animals; Antibodies, Monoclonal, Humanized; Clinical Trials as Topic; Combined Modality Therapy; Complement Inactivating Agents; Complement System Proteins; Disease Management; Disease Susceptibility; Drug Development; Humans; Myasthenia Gravis; Treatment Outcome
PubMed: 34456922
DOI: 10.3389/fimmu.2021.715036 -
Frontiers in Endocrinology 2023This study aims to assess the association between sodium-glucose cotransporter type-2 inhibitor (SGLT-2i) treatment and muscle atrophy in patients with type 2 diabetes... (Meta-Analysis)
Meta-Analysis
AIM
This study aims to assess the association between sodium-glucose cotransporter type-2 inhibitor (SGLT-2i) treatment and muscle atrophy in patients with type 2 diabetes mellitus (T2DM).
METHODS
We searched six databases from 1 January 2012 to 1 May 2023, without language restrictions. The primary outcome was muscle. Secondary outcomes were weight loss, weakness, malaise, or fatigue. Subgroup analyses were performed according to different definitions of muscle, treatment duration, and measurement methods. The quality of the studies was assessed using the Cochrane tool. The quality of the evidence was assessed using the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) tool.
RESULTS
Nineteen randomized controlled trials (RCTs) involving 1,482 participants were included. Compared with the control group, a meta-analysis showed that T2DM participants in the group treated with SGLT-2i demonstrated statistically significant reductions in lean body mass of 0.66 (95% confidence interval (CI), -1.05 to -0.27; = 0.0009) and skeletal muscle mass of 0.35 (95% CI, -0.66 to -0.04; = 0.03). No deaths or serious adverse events were reported. The quality of evidence in the included trials was low.
CONCLUSIONS
SGLT-2i may lead to a reduction in muscle strength in the treatment of T2DM compared to the control group. However, there is still a lack of high-quality evidence to evaluate muscle atrophy caused by SGLT-2i.
SYSTEMATIC REVIEW REGISTRATION
https://inplasy.com/inplasy-2022-12-0061/, identifier 2022120061.
Topics: Humans; Diabetes Mellitus, Type 2; Hypoglycemic Agents; Muscular Atrophy; Randomized Controlled Trials as Topic; Sodium-Glucose Transporter 2 Inhibitors
PubMed: 37780608
DOI: 10.3389/fendo.2023.1220516 -
International Journal of Environmental... Jun 2022We aimed to review the data available to evaluate the long-term consequences of coronavirus disease 2019 (COVID-19) at 6 months and above. We searched relevant... (Meta-Analysis)
Meta-Analysis Review
We aimed to review the data available to evaluate the long-term consequences of coronavirus disease 2019 (COVID-19) at 6 months and above. We searched relevant observational cohort studies up to 9 February 2022 in Pubmed, Embase, and Web of Science. Random-effects inverse-variance models were used to evaluate the Pooled Prevalence (PP) and its 95% confidence interval (CI) of long-term consequences. The Newcastle−Ottawa quality assessment scale was used to assess the quality of the included cohort studies. A total of 40 studies involving 10,945 cases of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection were included. Of the patients, 63.87% had at least one consequence at the 6 month follow-up, which decreased to 58.89% at 12 months. The most common symptoms were fatigue or muscle weakness (PP 6−12 m = 54.21%, PP ≥ 12 m = 34.22%) and mild dyspnea (Modified Medical Research Council Dyspnea Scale, mMRC = 0, PP 6−12 m = 74.60%, PP ≥ 12 m = 80.64%). Abnormal computerized tomography (CT; PP 6−12 m = 55.68%, PP ≥ 12 m = 43.76%) and lung diffuse function impairment, i.e., a carbon monoxide diffusing capacity (DLCO) of < 80% were common (PP 6−12 m = 49.10%, PP ≥ 12 m = 31.80%). Anxiety and depression (PP 6−12 m = 33.49%, PP ≥ 12 m = 35.40%) and pain or discomfort (PP 6−12 m = 33.26%, PP ≥ 12 m = 35.31%) were the most common problems that affected patients’ quality of life. Our findings suggest a significant long-term impact on health and quality of life due to COVID-19, and as waves of ASRS-CoV-2 infections emerge, the long-term effects of COVID-19 will not only increase the difficulty of care for COVID-19 survivors and the setting of public health policy but also might lead to another public health crisis following the current pandemic, which would also increase the global long-term burden of disease.
Topics: COVID-19; Dyspnea; Humans; Pandemics; Quality of Life; SARS-CoV-2
PubMed: 35682448
DOI: 10.3390/ijerph19116865