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Journal of Personalized Medicine Apr 2024Anti-signal recognition particle myopathy (anti-SRP myopathy) is a rare subtype of immune-mediated inflammatory myopathy characterized by muscle weakness and anti-SRP... (Review)
Review
Anti-signal recognition particle myopathy (anti-SRP myopathy) is a rare subtype of immune-mediated inflammatory myopathy characterized by muscle weakness and anti-SRP autoantibodies. Although plasma exchange (PE) is used in severe cases, its role remains unclear. A systematic review was conducted following PRISMA guidelines, identifying 23 patients with anti-SRP myopathy treated with PE. Data on demographics, clinical features, laboratory findings, treatments, and outcomes were analyzed combining individual patient data if available. Sixteen (69.6%) patients were male, with muscle weakness as the predominant symptom in 100% of cases. After PE, most patients showed improvement in symptoms, and the proportion of patients with muscle weakness was reduced ( = 0.001). Relapse occurred in 17.4% of the cases. The incidence of adverse events was low (8.7%). Despite limitations, including a small sample size and heterogeneous data, our systematic review suggests that PE may be effective in inducing remission and controlling symptoms in anti-SRP myopathy, particularly in severe cases. Since evidence on PE in anti-SRP myopathy is limited, further research, including prospective multicenter studies, is warranted to understand better its efficacy and safety and establish its role in treatment algorithms.
PubMed: 38793043
DOI: 10.3390/jpm14050461 -
International Journal of Molecular... May 2024Inherited muscular diseases (MDs) are genetic degenerative disorders typically caused by mutations in a single gene that affect striated muscle and result in progressive... (Review)
Review
Inherited muscular diseases (MDs) are genetic degenerative disorders typically caused by mutations in a single gene that affect striated muscle and result in progressive weakness and wasting in affected individuals. Cardiac muscle can also be involved with some variability that depends on the genetic basis of the MD (Muscular Dystrophy) phenotype. Heart involvement can manifest with two main clinical pictures: left ventricular systolic dysfunction with evolution towards dilated cardiomyopathy and refractory heart failure, or the presence of conduction system defects and serious life-threatening ventricular arrhythmias. The two pictures can coexist. In these cases, heart transplantation (HTx) is considered the most appropriate option in patients who are not responders to the optimized standard therapeutic protocols. However, cardiac transplant is still considered a relative contraindication in patients with inherited muscle disorders and end-stage cardiomyopathies. High operative risk related to muscle impairment and potential graft involvement secondary to the underlying myopathy have been the two main reasons implicated in the generalized reluctance to consider cardiac transplant as a viable option. We report an overview of cardiac involvement in MDs and its possible association with the underlying molecular defect, as well as a systematic review of HTx outcomes in patients with MD-related end-stage dilated cardiomyopathy, published so far in the literature.
Topics: Humans; Cardiomyopathy, Dilated; Heart Transplantation; Muscular Dystrophies
PubMed: 38791328
DOI: 10.3390/ijms25105289 -
Osteoporosis International : a Journal... May 2024Patients with myasthenia gravis (MG), because of their muscle weakness and exposure to corticosteroids treatment, are generally considered to be at increased risk for... (Review)
Review
Patients with myasthenia gravis (MG), because of their muscle weakness and exposure to corticosteroids treatment, are generally considered to be at increased risk for osteoporosis or fracture. However, clinical evidence of this issue is lacking. In this review, we systematically searched databases, including Cochrane Library, PubMed, Embase, and Airiti library from inception to the end of November 2023 for cohort studies that compared participants with MG and participants without MG for incidence of osteoporosis or fracture. We used the Newcastle-Ottawa Scale for quality assessment. In total, we included 3 studies with 34,865 participants. The pooled meta-analysis using the random effect model demonstrated no significant difference in risk of fracture in the MG group (odds ratio = 1.52; 95% confidence interval = 0.74 to 3.12; I = 93%; between-study variance [τ] = 0.32) compared with that for the non-MG group. Due to limited studies, we could not perform a quantitative analysis for risk of osteoporosis. In conclusion, we found no robust evidence to support the proposition that patients with MG are at higher risk for fracture than general comparators. The explanations and underlying mechanisms of this finding remain unclear, we therefore conclude that additional studies are warranted.
PubMed: 38748216
DOI: 10.1007/s00198-024-07097-2 -
Journal of Cachexia, Sarcopenia and... Jun 2024Proliferating cancer cells shift their metabolism towards glycolysis, even in the presence of oxygen, to especially generate glycolytic intermediates as substrates for...
BACKGROUND
Proliferating cancer cells shift their metabolism towards glycolysis, even in the presence of oxygen, to especially generate glycolytic intermediates as substrates for anabolic reactions. We hypothesize that a similar metabolic remodelling occurs during skeletal muscle hypertrophy.
METHODS
We used mass spectrometry in hypertrophying C2C12 myotubes in vitro and plantaris mouse muscle in vivo and assessed metabolomic changes and the incorporation of the [U-C]glucose tracer. We performed enzyme inhibition of the key serine synthesis pathway enzyme phosphoglycerate dehydrogenase (Phgdh) for further mechanistic analysis and conducted a systematic review to align any changes in metabolomics during muscle growth with published findings. Finally, the UK Biobank was used to link the findings to population level.
RESULTS
The metabolomics analysis in myotubes revealed insulin-like growth factor-1 (IGF-1)-induced altered metabolite concentrations in anabolic pathways such as pentose phosphate (ribose-5-phosphate/ribulose-5-phosphate: +40%; P = 0.01) and serine synthesis pathway (serine: -36.8%; P = 0.009). Like the hypertrophy stimulation with IGF-1 in myotubes in vitro, the concentration of the dipeptide l-carnosine was decreased by 26.6% (P = 0.001) during skeletal muscle growth in vivo. However, phosphorylated sugar (glucose-6-phosphate, fructose-6-phosphate or glucose-1-phosphate) decreased by 32.2% (P = 0.004) in the overloaded muscle in vivo while increasing in the IGF-1-stimulated myotubes in vitro. The systematic review revealed that 10 metabolites linked to muscle hypertrophy were directly associated with glycolysis and its interconnected anabolic pathways. We demonstrated that labelled carbon from [U-C]glucose is increasingly incorporated by ~13% (P = 0.001) into the non-essential amino acids in hypertrophying myotubes, which is accompanied by an increased depletion of media serine (P = 0.006). The inhibition of Phgdh suppressed muscle protein synthesis in growing myotubes by 58.1% (P < 0.001), highlighting the importance of the serine synthesis pathway for maintaining muscle size. Utilizing data from the UK Biobank (n = 450 243), we then discerned genetic variations linked to the serine synthesis pathway (PHGDH and PSPH) and to its downstream enzyme (SHMT1), revealing their association with appendicular lean mass in humans (P < 5.0e-8).
CONCLUSIONS
Understanding the mechanisms that regulate skeletal muscle mass will help in developing effective treatments for muscle weakness. Our results provide evidence for the metabolic rewiring of glycolytic intermediates into anabolic pathways during muscle growth, such as in serine synthesis.
Topics: Glucose; Muscle, Skeletal; Animals; Mice; Humans; Hypertrophy; Muscle Fibers, Skeletal; Insulin-Like Growth Factor I; Metabolomics
PubMed: 38742477
DOI: 10.1002/jcsm.13468 -
Gait Compensation among Children with Non-Operative Legg-Calvé-Perthes Disease: A Systematic Review.Healthcare (Basel, Switzerland) Apr 2024Perthes disease is a condition that affects walking patterns in young children due to poor blood circulation in the hip joint. Understanding the gait strategies of... (Review)
Review
UNLABELLED
Perthes disease is a condition that affects walking patterns in young children due to poor blood circulation in the hip joint. Understanding the gait strategies of affected children is of great importance for an objective assessment and better management of this condition. The aim of this systematic review was to evaluate the current literature to identify gait compensation patterns in non-operative children with Perthes disease.
METHODS
A systematic electronic search was performed using MEDLINE, CINAHL, Embase, BIOSIS, and the Cochrane Library to identify studies published from inception up until December 2023. An adapted Downs and Black checklist was utilised to assess methodological quality and project risk of bias. Percentage agreement and nominal kappa statistics with bootstrapped bias-corrected 95% confidence intervals (CIs) were used.
RESULT
A comprehensive literature search revealed 277 citations for review, of which 210 studies entered full-text screening. In total, eight studies met the inclusion criteria for quality assessment by two independent reviewers. The results revealed variations in data quality, with scores ranging from 12 to 17 due to missing information related to subject characteristics, biomechanical model, and power calculation.
CONCLUSIONS
This review reveals common compensation strategies associated with walking among non-operative children with Perthes disease such as Trendelenburg gait due to weakness of the hip abductor muscle.
PubMed: 38727452
DOI: 10.3390/healthcare12090895 -
American Journal of Physical Medicine &... May 2024Unloader braces are a treatment modality for medial compartment knee osteoarthritis (MC-KOA). The functional mechanisms involved are not yet fully understood. Therefore,...
Unloader braces are a treatment modality for medial compartment knee osteoarthritis (MC-KOA). The functional mechanisms involved are not yet fully understood. Therefore, this two-part systematic review (SR) examines the following research questions: How is muscle activation altered by MC-KOA, and do MC unloader braces alter muscle activation? If so, could this alteration be part of the unloading mechanism by affecting the altered muscle activity in MC-KOA?A systematic literature search was conducted using PubMed, LIVIVO, Web of Science, Google Scholar, and CENTRAL for articles published until August 2023. The first SR, examining neuromuscular alterations, identified 703 articles, with a final inclusion of 20. The second SR, which evaluated the neuromuscular effects of unloader braces, identified 123 articles with the final inclusion of 3. Individuals with MC-KOA demonstrated increased activity and co-contraction of the periarticular knee muscles, whereas MC unloader braces seemed to reduce activity and co-contraction. In contrast to the belief that unloader braces result in muscle weakness as they decrease muscle activity and co-contraction, our limited insights indicate that they rather might reduce the pathological increase. This may result in joint load reduction owing to lower compressive forces. However, further investigation is required.
PubMed: 38709674
DOI: 10.1097/PHM.0000000000002521 -
Archives of Endocrinology and Metabolism May 2024Muscle weakness has been associated to insulin resistance and metabolic syndrome in the general population. However, it is still unclear whether this association is... (Review)
Review
Muscle weakness has been associated to insulin resistance and metabolic syndrome in the general population. However, it is still unclear whether this association is maintained in older adults. This study investigated correlations between low handgrip strength (HGS) and metabolic syndrome, or some of its components, in older adults through a systematic review of the literature. Searches were conducted in the Virtual Health Library Regional Portal, Scopus, Cochrane, Embase, MEDLINE/ PubMed, SciELO, and Web of Science databases for relevant studiesinvestigating muscle weakness (measured by hand dynamometer) and metabolic syndrome or its components in older adult populations, published up to September 2023. From the 2050 references initially identified, 20 studies, comprising a total of 31,264 older adults of both genders, completely met the inclusion/exclusion criteria. Eighteen studies showed that lower HGS was associated with metabolic syndrome or some of its risk factors, such as abdominal obesity, hyperglycemia, insulin resistance, dyslipidemia, or high blood pressure. Two studies found that older men with high blood pressure had increased HGS. Most studies included in this systematic review revealed a significant correlation between reduced HGS and metabolic syndrome or some of its components, especially abdominal obesity and insulin resistance. We conclude that below-average HGS can be associated with metabolic syndrome in older adults.
Topics: Humans; Metabolic Syndrome; Hand Strength; Aged; Male; Female; Muscle Weakness; Risk Factors; Insulin Resistance
PubMed: 38709150
DOI: 10.20945/2359-4292-2023-0026 -
World Neurosurgery May 2024Blink reflex (BR) is an oligosynaptic reflex that involves the ophthalmic branch of the trigeminal nerve (TN), ipsilateral main sensory and trigeminospinal nuclei,...
BACKGROUND
Blink reflex (BR) is an oligosynaptic reflex that involves the ophthalmic branch of the trigeminal nerve (TN), ipsilateral main sensory and trigeminospinal nuclei, bilateral facial nuclei, and the facial nerves (FNs). Theoretically, as BR tests the function of both TN and FNs simultaneously, it is an ideal tool for monitoring the status of TN and FNs during skull base surgeries. Nevertheless, it has been used only recently in surgeries as the use of anesthesia limits its use.
METHODS
For this systematic review, 2 authors input the search terms [(Blink Reflex) AND (Intraoperative Neuromonitoring OR Neuro Intraoperative Monitoring OR Intraoperative OR NIOM OR IONM) AND (skull base surgery OR Facial Nerve OR Trigeminal Nerve OR Microvascular Decompression OR Hemifacial Spasm)] in MEDLINE through its PubMed interface and other search engines. Articles that fulfilled the inclusion and exclusion criteria were obtained and scrutinized.
RESULTS
Seven observational articles with a total of 437 participants were included. All 5 studies that described the use of BR in FN surgery noted that intraoperative BR is beneficial, safe, sensitive, specific, and predictive of outcomes, while 2 articles describing patients with trigeminal neuralgia recommended use of BR in microvascular decompression of TN.
CONCLUSIONS
Intraoperative BR is a sensitive, specific, and safe monitoring technique that has good predictability of facial paresis and paresthesia among patients undergoing MVD for trigeminal neuralgia and primary hemifacial spasm and patients undergoing cerebellopontine angle tumor resection.
PubMed: 38705267
DOI: 10.1016/j.wneu.2024.04.164 -
Nutrition Research (New York, N.Y.) May 2024The quality of a mother's diet is important to ensure child growth and development and keep women healthy. This systematic review aimed to identify the outcomes of a... (Review)
Review
The quality of a mother's diet is important to ensure child growth and development and keep women healthy. This systematic review aimed to identify the outcomes of a carbohydrate-restricted diet during lactation. PubMed, EMBASE, Scopus, Web of Science, and LILACS were searched for studies published between 2012 and 2023; 16 studies were selected, all of them case reports or care series. The carbohydrate restriction described in the papers mainly was ketogenic, low-carb, low-carbohydrate and high-fat, and modified ketogenic diets. The main goal of women undertaking these diets was weight loss, with therapeutic purposes (monitored and supervised by health professionals) in only 2 cases: (1) ketogenic diet therapy for treatment of seizures in the infant and (2) to reduce symptoms of mother's gastroesophageal reflux. Most articles reported that lactating women were hospitalized, experiencing symptoms such as vomiting, muscle weakness, nausea, abdominal pain, general malaise, and fatigue. However, articles did not mention poor outcomes for the infants. Most of the studies in this review were published in the past 3 years, indicating a possible increase in cases of women practicing carbohydrate restriction during lactation for weight loss caused by body dissatisfaction. In conclusion, carbohydrate restriction during lactation may be harmful to the lactating woman and contribute to the state of lactational ketoacidosis, but infant outcomes are mainly a change in feeding patterns. Thus, education on food and nutrition is necessary for this population.
Topics: Adult; Female; Humans; Infant; Breast Feeding; Diet, Carbohydrate-Restricted; Diet, Ketogenic; Dietary Carbohydrates; Ketosis; Lactation; Maternal Nutritional Physiological Phenomena; Weight Loss
PubMed: 38565002
DOI: 10.1016/j.nutres.2024.02.007 -
PloS One 2024Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons, resulting in muscle weakness, paralysis, and eventually... (Meta-Analysis)
Meta-Analysis
Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects motor neurons, resulting in muscle weakness, paralysis, and eventually patient mortality. In recent years, neuromodulation techniques have emerged as promising potential therapeutic approaches to slow disease progression and improve the quality of life of ALS patients. A systematic review was conducted until August 8, 2023, to evaluate the neuromodulation methods used and their potential in the treatment of ALS. The search strategy was applied in the Cochrane Central database, incorporating results from other databases such as PubMed, Embase, CTgov, CINAHL, and ICTRP. Following the exclusion of papers that did not fulfil the inclusion criteria, a total of 2090 records were found, leaving a total of 10 studies. R software was used to conduct meta-analyses based on the effect sizes between the experimental and control groups. This revealed differences in muscle stretch measures with manual muscle testing (p = 0.012) and resting motor threshold (p = 0.0457), but not with voluntary isometric contraction (p = 0.1883). The functionality of ALS was also different (p = 0.007), but not the quality of life. Although intracortical facilitation was not seen in motor cortex 1 (M1) (p = 0.1338), short-interval intracortical inhibition of M1 was significant (p = 0.0001). BDNF showed no differences that were statistically significant (p = 0.2297). Neuromodulation-based treatments are proposed as a promising therapeutic approach for ALS that can produce effects on muscle function, spasticity, and intracortical connections through electrical, magnetic, and photonic stimulation. Photobiomodulation stands out as an innovative approach that uses specific wavelengths to influence mitochondria, with the aim of improving mitochondrial function and reducing excitotoxicity. The lack of reliable placebo controls and the variation in stimulation frequency are some of the drawbacks of neuromodulation.
Topics: Humans; Amyotrophic Lateral Sclerosis; Quality of Life; Neurodegenerative Diseases; Exercise Therapy; Muscle Spasticity
PubMed: 38551974
DOI: 10.1371/journal.pone.0300671