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Tuberkuloz Ve Toraks Jun 2022The first application of modern non-invasive mechanical ventilation (NIV) can be traced back to over 30 years ago when a patient suffering from Duchenne Muscular...
The first application of modern non-invasive mechanical ventilation (NIV) can be traced back to over 30 years ago when a patient suffering from Duchenne Muscular Dystrophy was successfully ventilated. Since then, the use of NIV has been on the rise throughout the world. Although a very modern and safe therapy, complications during its application are inevitable. In addition to some well-known complications, others have described more rare entities. In this article, we described such rare complications as pneumoperitoneum, pneumocephalus, parotitis, gastric perforation, and barotrauma. The purpose of this review was to describe unusual complications of NIV, their prevalence, and the mechanisms by which such complications arise. We performed a clinical review by searching PubMed, Embase, and Cochrane libraries with Mesh terms: 'non-invasive mechanical ventilation', 'high-flow nasal cannula', 'rare complication', 'unusual complication', and 'unexpected complication'. These terms were cross-referenced with other keywords: 'pneumoperitoneum', 'parotitis', 'pneumocephalus', 'gastric insufflation', and 'barotrauma'. We included 26 research papers. When applying mechanical ventilation, it is necessary to have a strong knowledge of the mechanics of the device as well as familiarity with the complications that may occur during its use, including less common ones. Prompt and effective treatment of such complications is required, as well as careful consideration of the potential causes of such events, during the application of NIV or HFNC.
Topics: Cannula; Humans; Noninvasive Ventilation; Oxygen Inhalation Therapy; Respiration, Artificial; Treatment Outcome
PubMed: 35785884
DOI: 10.5578/tt.20229810 -
European Neurology 2022Increasing evidence has shown that oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD). Oxidative stress impairs muscle function,... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Increasing evidence has shown that oxidative stress is involved in the pathogenesis of Duchenne muscular dystrophy (DMD). Oxidative stress impairs muscle function, reduces regenerative capacity, and leads to atrophy and muscle weakness. The present study aimed to evaluate the effectiveness and safety of antioxidants in treatment of DMD patients.
METHODS
Medline, Embase, EBSCOhost, and Cochrane Library databases were searched using relevant keywords regarding DMD and antioxidants. The risk of bias for all included studies was assessed using the Cochrane risk of bias tool. The effectiveness of antioxidants in improving pulmonary function and muscle strength in DMD patients and their rate of adverse events was evaluated by meta-analysis.
RESULTS
A total of nine eligible studies were identified. Among these, two studies involving 85 patients compared idebenone with placebo. Pooled data showed a significant improvement in pulmonary function after idebenone treatment. Flavonoids- and omega 3-based compounds (FLAVOMEGA) significantly improved muscle strength. Two studies evaluated coenzyme Q10 (CoQ10) and reported clinical improvement in physical activity. The remaining four studies evaluated pentoxifylline, superoxide dismutase, vitamin E combination with penicillamine and penicillamine alone, respectively, and found no significant differences between the intervention and placebo groups, measured by pulmonary function, muscle strength, movement function, or quality of life. Most adverse events were mild, while the rates of dropout and serious adverse events were low with respect to antioxidants.
CONCLUSIONS
Idebenone appeared to be safe and effective in improving pulmonary function in DMD patients, while pentoxifylline, superoxide dismutase, penicillamine, or a combination of vitamin E with penicillamine did not show a significant therapeutic effect. CoQ10 and FLAVOMEGA might be beneficial in improving muscle strength or physical activity in DMD patients. However, additional trials with more participants are warranted in the future.
Topics: Antioxidants; Flavonoids; Humans; Muscular Dystrophy, Duchenne; Penicillamine; Pentoxifylline; Quality of Life; Superoxide Dismutase; Vitamin E
PubMed: 35697003
DOI: 10.1159/000525045 -
JBJS Reviews Jun 2022COVID-19 is a disease that is challenging science, health-care systems, and humanity. An astonishingly wide spectrum of manifestations of multi-organ damage, including...
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COVID-19 is a disease that is challenging science, health-care systems, and humanity. An astonishingly wide spectrum of manifestations of multi-organ damage, including musculoskeletal, can be associated with SARS-CoV-2.
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In the acute phase of COVID-19, fatigue, myalgia, and arthralgia are the most common musculoskeletal symptoms.
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Post-COVID-19 syndrome is a group of signs and symptoms that are present for >12 weeks. The associated musculoskeletal manifestations are fatigue, arthralgia, myalgia, new-onset back pain, muscle weakness, and poor physical performance.
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Data on COVID-19 complications are growing due to large absolute numbers of cases and survivors in these 2 years of the pandemic. Additional musculoskeletal manifestations encountered are falls by the elderly, increased mortality after hip fracture, reduced bone mineral density and osteoporosis, acute sarcopenia, rhabdomyolysis, Guillain-Barré syndrome, muscle denervation atrophy, fibromyalgia, rheumatological disease triggering, septic arthritis, adhesive capsulitis, myositis, critical illness myopathy, onset of latent muscular dystrophy, osteonecrosis, soft-tissue abscess, urticarial vasculitis with musculoskeletal manifestations, and necrotizing autoimmune myositis.
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A wide range of signs and symptoms involving the musculoskeletal system that affect quality of life and can result in a decrease in disability-adjusted life years. This powerful and unpredictable disease highlights the importance of multimodality imaging, continuing education, and multidisciplinary team care to support preventive measures, diagnosis, and treatment.
Topics: Aged; Arthralgia; COVID-19; Fatigue; Humans; Musculoskeletal System; Myalgia; Myositis; Quality of Life; SARS-CoV-2; Post-Acute COVID-19 Syndrome
PubMed: 35658089
DOI: 10.2106/JBJS.RVW.22.00013 -
Journal of Rehabilitation Medicine Jan 2022To evaluate the effects and safety of exercise training, and to determine the most effective exercise intervention for people with Duchenne muscular dystrophy.... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To evaluate the effects and safety of exercise training, and to determine the most effective exercise intervention for people with Duchenne muscular dystrophy. Exercise training was compared with no training, placebo or alternative exercise training. Primary outcomes were functioning and health-related quality of life. Secondary outcomes were muscular strength, endurance and lung function. Data sources: A systematic literature search was conducted in Medline, EMBASE, CINAHL, Cochrane Central, PEDro and Scopus. Study selection and data extraction: Screening, data extraction, risk of bias and quality assessment were carried out. Risk of bias was assessed using the Cochrane Collaborations risk of bias tools. The certainty of evidence was assessed using Grading of Recommendations Assessment, Development and Evaluation.
DATA SYNTHESIS
Twelve studies with 282 participants were included. A narrative synthesis showed limited or no improvements in functioning compared with controls. Health-related quality of life was assessed in only 1 study. A meta-analysis showed a significant difference in muscular strength and endurance in favour of exercise training compared with no training and placebo. However, the certainty of evidence was very low.
CONCLUSION
Exercise training may be beneficial in Duchenne muscular dystrophy, but the evidence remains uncertain. Further research is needed on exercise training to promote functioning and health-related quality of life in Duchenne muscular dystrophy.
Topics: Exercise; Humans; Muscle Strength; Muscular Dystrophy, Duchenne; Quality of Life
PubMed: 35642324
DOI: 10.2340/jrm.v53.985 -
Orphanet Journal of Rare Diseases May 2022There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial... (Review)
Review
There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation. We performed a systematic review using Medline, Embase, Cochrane, and Scopus to identify cases of adults with idiopathic dilated cardiomyopathy who were subsequently diagnosed with Becker muscular dystrophy from inception through August 2020. Six cases were found. We identified young males (Median age: 26 years) with Becker muscular dystrophy who first presented with dilated cardiomyopathy. Most patients initially presented with congestive heart failure symptoms (5/6, 83%), and had a median left ventricular ejection fraction of 23%. One case did have calf pseudohypertrophy. Musculoskeletal symptoms later appeared one to six years after the initial dilated cardiomyopathy presentation. Heart transplantation was the most common management strategy (4/6, 67%). A left ventricular assist device was used in one case as a bridge to heart transplant. Dilated cardiomyopathy can be the initial presentation of Becker muscular dystrophy in the third to fourth decades of life in adult patients, and musculoskeletal symptoms can be subclinical.
Topics: Adult; Cardiomyopathy, Dilated; Heart Failure; Humans; Male; Muscular Dystrophy, Duchenne; Stroke Volume; Ventricular Function, Left
PubMed: 35549971
DOI: 10.1186/s13023-022-02346-1 -
Journal of Neuromuscular Diseases 2022BackgroundThe impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression to loss of ambulation (LOA) has not been well established,...
UNLABELLED
BackgroundThe impact of age at autosomal recessive limb girdle muscular dystrophy (LGMDR) onset on progression to loss of ambulation (LOA) has not been well established, particularly by subtype.
OBJECTIVES
To describe the characteristics of patients with adult-, late childhood-, and early childhood-onset LGMDR by subtype and characterize the frequency and timing of LOA.
METHODS
A systematic review was conducted in MEDLINE, Embase and the Cochrane library. Frequency and timing of LOA in patients with LGMDR1, LGMDR2/Miyoshi myopathy (MM), LGMDR3-6, LGMDR9, and LGMDR12 were synthesized from published data.
RESULTS
In 195 studies, 695 (43.4%) patients had adult-, 532 (33.2%) had late childhood-, and 376 (23.5%) had early childhood-onset of disease across subtypes among those with a reported age at onset (n = 1,603); distribution of age at onset varied between subtypes. Among patients with LOA (n = 228), adult-onset disease was uncommon in LGMDR3-6 (14%) and frequent in LGMDR2/MM (42%); LGMDR3-6 cases with LOA primarily had early childhood-onset (74%). Mean (standard deviation [SD]) time to LOA varied between subtypes and was shortest for patients with early childhood-onset LGMDR9 (12.0 [4.9] years, n = 19) and LGMDR3-6 (12.3 [10.7], n = 56) and longest for those with late childhood-onset LGMDR2/MM (21.4 [11.5], n = 36).
CONCLUSIONS
This review illustrated that patients with early childhood-onset disease tend to have faster progression to LOA than those with late childhood- or adult-onset disease, particularly in LGMDR9. These findings provide a greater understanding of progression to LOA by LGMDR subtype, which may help inform clinical trial design and provide a basis for natural history studies.
Topics: Adult; Child; Child, Preschool; Distal Myopathies; Humans; Muscular Atrophy; Muscular Dystrophies, Limb-Girdle; Walking
PubMed: 35527561
DOI: 10.3233/JND-210771 -
Avicenna Journal of Medical... 2022Menstrual-derived Stem Cells (MenSC) are a potential novel source of mesenchymal stem cells. There is an increased interest in investigating the therapeutic potential of... (Review)
Review
Menstrual-derived Stem Cells (MenSC) are a potential novel source of mesenchymal stem cells. There is an increased interest in investigating the therapeutic potential of MenSC due to the various advantages they exhibit, when compared to other types of stem cells. MenSC are obtained non-invasively from menstrual blood. Thus, collection of MenSC is simple, reproducible and can be carried out periodically, with minimal complications. MenSC are present in abundance, are highly proliferative, exhibit a low immunogenicity and lack ethical issues. MenSC have shown the ability to differentiate into several lineages. The therapeutic potential of MenSC in non-gynaecological applications has been investigated in wound healing, neurological, musculo-skeletal, cardiovascular, respiratory, and liver disorders, as well as in diabetes and cancer. Human clinical trials are limited. To date, therapeutic efficacy and safety have been reported in patients with Avian influenza A subtype H7N9, COVID-19, congestive heart failure, multiple sclerosis and Duchene muscular dystrophy. However, further clinical trials in humans should be conducted, to study the long-term therapeutic effects of these stem cells in various diseases and to further explore their mechanism of action. This systematic review focuses on the application of MenSC in non-gynaecological diseases.
PubMed: 35509365
DOI: 10.18502/ajmb.v14i1.8166 -
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 -
Biology Mar 2022Cardiolaminopathies are a heterogeneous group of disorders which are due to mutations in the genes encoding for nuclear lamins or their binding proteins. The whole... (Review)
Review
Cardiolaminopathies are a heterogeneous group of disorders which are due to mutations in the genes encoding for nuclear lamins or their binding proteins. The whole spectrum of cardiac manifestations encompasses atrial arrhythmias, conduction disturbances, progressive systolic dysfunction, and malignant ventricular arrhythmias. Despite the prognostic significance of cardiac involvement in this setting, the current recommendations lack strong evidence. The aim of our work was to systematically review the current data on the main cardiovascular outcomes in cardiolaminopathies. We searched PubMed/Embase for studies focusing on cardiovascular outcomes in mutation carriers (atrial arrhythmias, ventricular arrhythmias, sudden cardiac death, conduction disturbances, thromboembolic events, systolic dysfunction, heart transplantation, and all-cause and cardiovascular mortality). In total, 11 studies were included (1070 patients, mean age between 26-45 years, with follow-up periods ranging from 2.5 years up to 45 ± 12). When available, data on the -mutated population were separately reported (40 patients). The incidence rates (IR) were individually assessed for the outcomes of interest. The IR for atrial fibrillation/atrial flutter/atrial tachycardia ranged between 6.1 and 13.9 events/100 pts-year. The IR of atrial standstill ranged between 0 and 2 events/100 pts-year. The IR for malignant ventricular arrhythmias reached 10.2 events/100 pts-year and 15.6 events/100 pts-year for appropriate implantable cardioverter-defibrillator (ICD) interventions. The IR for advanced conduction disturbances ranged between 3.2 and 7.7 events/100 pts-year. The IR of thromboembolic events reached up to 8.9 events/100 pts-year. Our results strengthen the need for periodic cardiological evaluation focusing on the early recognition of atrial arrhythmias, and possibly for the choice of preventive strategies for thromboembolic events. The frequent need for cardiac pacing due to advanced conduction disturbances should be counterbalanced with the high risk of malignant ventricular arrhythmias that would justify ICD over pacemaker implantation.
PubMed: 35453731
DOI: 10.3390/biology11040530 -
Disability and Rehabilitation Apr 2023Some parents of children with DMD find their role challenging, affecting quality of life. To inform support methods, we aimed to understand the lived experiences of...
PURPOSE
Some parents of children with DMD find their role challenging, affecting quality of life. To inform support methods, we aimed to understand the lived experiences of parents and how these interact with disease progression.
MATERIALS AND METHODS
PRISMA informed protocol development. Qualitative and mixed methods studies were included. Four databases were searched and study quality was assessed using a standardised measure. Extracted data were analysed using thematic synthesis.
RESULTS
26 studies were included, comprising 362 parents. Seven descriptive themes were apparent: "Diagnostic Experiences", "Coping with the Caregiver Role", "Illness Trajectory and Associated Interventions", "Family Communication", "Network of Support", "Navigating Systems" and "Transition Experiences". Four analytical themes were then derived: "The Cyclical Nature of Grief", "Lifelong Expert in the Needs and Experiences of an Individual with DMD", "Navigating Deviation from Typical Life Course" and "Uncertainty as Ever Present".
CONCLUSION
The extant evidence suggests that the experience of parenting a child with DMD is often characterised by: a cycle of grief that begins at diagnosis, which runs parallel to the development of expertise in caregiving; within this parents notice deviations from their child's and their own expected life course and adjust to the emotions and uncertainty that this can bring.IMPLICATIONS FOR REHABILITATIONProfessionals should be cognisant to the complex grief process associated with DMD, which occurs from diagnosis onwards.There should be continued support for parents following bereavement.Peer support groups may also offer parents ways to maintain well-being.The necessity for parents to function effectively within an uncertain context that induces challenging emotions suggests a role for psychological therapies.
Topics: Child; Humans; Quality of Life; Muscular Dystrophy, Duchenne; Parents; Parenting; Adaptation, Psychological
PubMed: 35435109
DOI: 10.1080/09638288.2022.2060336