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Frontiers in Neurology 2024To review the clinical characteristics and effect of treatment in patients with spinal muscular atrophy (SMA) and three copies of the gene.
The impact of three gene copies on clinical characteristics and effect of disease-modifying treatment in patients with spinal muscular atrophy: a systematic literature review.
OBJECTIVE
To review the clinical characteristics and effect of treatment in patients with spinal muscular atrophy (SMA) and three copies of the gene.
METHODS
We conducted a literature search in October 2022 to identify English-language clinical research on SMA that included copy number according to PRISMA guidelines.
RESULTS
Our search identified 44 studies examining the impact of three copies on clinical characteristics (21 on phenotype, 13 on natural history, and 15 on functional status and other signs/symptoms). In children with type I SMA or presymptomatic infants with an deletion, three copies was associated with later symptom onset, slower decline in motor function and longer survival compared with two copies. In patients with SMA type II or III, three copies is associated with earlier symptom onset, loss of ambulation, and ventilator dependence compared with four copies. Eleven studies examined treatment effects with nusinersen (nine studies), onasemnogene abeparvovec (one study), and a range of treatments (one study) in patients with three copies. In presymptomatic infants, early treatment delayed the onset of symptoms and maintained motor function in those with three copies. The impact of copy number on treatment response in symptomatic patients is still unclear.
CONCLUSION
copy number is strongly correlated with SMA phenotype in patients with deletion, while no correlation was found in patients with an mutation. Patients with three copies show a highly variable clinical phenotype. Early initiation of treatment is highly effective in presymptomatic patients with three copies.
PubMed: 38487326
DOI: 10.3389/fneur.2024.1308296 -
Aging Clinical and Experimental Research Mar 2024Individuals with chronic obstructive pulmonary disease (COPD) are prone to malnutrition and sarcopenia as a result of nutritional deficiencies and increased energy... (Meta-Analysis)
Meta-Analysis
Individuals with chronic obstructive pulmonary disease (COPD) are prone to malnutrition and sarcopenia as a result of nutritional deficiencies and increased energy metabolism. However, the effects of nutrient supplements (NS) on treating sarcopenia in patients with COPD are not well established from systematic evidence. This meta-analysis examined the effect of NS on sarcopenia in patients with COPD. A systematic search of multiple databases was conducted, and 29 randomized controlled trials involving 1625 participants (age, mean [SD] = 67.9 [7.8] years) were analyzed. NS demonstrated significant improvements in body weight (MD,1.33 kg; 95% CI, 0.60, 2.05 kg; P = 0.0003; I = 87%), fat-free mass index (MD, 0.74 kg/m; 95% CI, 0.21, 1.27 kg/m; P = 0.007; I = 75%), and 6-min walk test (MD, 19.43 m; 95% CI, 4.91, 33.94 m; P = 0.009; I = 81%) compared with control. However, NS had nonsignificant effects on handgrip strength (SMD, 0.36; 95% CI, - 0.15, 0.88; P = 0.16; I = 87%) and quadriceps muscle strength (SMD, 0.11; 95% CI, - 0.06, 0.27; P = 0.20; I = 25%) compared with the control. In conclusion, NS may be an effective treatment for improving body composition and physical performance in COPD. Future studies should explore the effects of intervention durations, specific NS types, or combined training in patients with COPD and sarcopenia.
Topics: Humans; Sarcopenia; Hand Strength; Quality of Life; Pulmonary Disease, Chronic Obstructive; Muscle Strength
PubMed: 38483650
DOI: 10.1007/s40520-024-02722-w -
Nutrients Feb 2024The changes in body composition during androgen deprivation therapy (ADT) in patients suffering from prostate cancer (PCa) are recognized by professionals more often as... (Meta-Analysis)
Meta-Analysis Review
The changes in body composition during androgen deprivation therapy (ADT) in patients suffering from prostate cancer (PCa) are recognized by professionals more often as biomarker for effective treatment. The aim of this study was to investigate the impact of ADT on the sarcopenia development in PCa. The following databases were used: PubMed, Embase, Web of Science and Scopus databases. Out of 2183 studies, 7 were included in this review. The fixed-effect model was used in the meta-analysis. A significant increase in SATI (Subcutaneous Adipose Tissue Index) of 0.32 (95% CI: 0.13-0.51) = 0.001, decrease in SMI (Skeletal Muscle Index) of -0.38 (95% CI: -0.57 to -0.19) < 0.0001, and SMD (Skeletal Muscle Density) of -0.46 (95% CI: -0.69 to -0.24) < 0.0001 were observed. No statistical association was visible between ADT and changes in BMI (Body Mass Index), 0.05 (95% CI: -0.18-0.28), = 0.686, and VATI (Visceral Adipose Tissue Index): 0.17 (95% CI: -0.02 to 0.37), = 0.074. In conclusion, the ADT significantly contributes to the body composition changes and sarcopenia development.
Topics: Male; Humans; Sarcopenia; Prostatic Neoplasms; Androgen Antagonists; Androgens; Muscle, Skeletal
PubMed: 38474784
DOI: 10.3390/nu16050656 -
International Journal of Molecular... Feb 2024Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular... (Review)
Review
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterized by the progressive fibro-fatty replacement of the right ventricular myocardium, leading to myocardial atrophy. Although the structural changes usually affect the right ventricle, the pathology may also manifest with either isolated left ventricular myocardium or biventricular involvement. As ARVC shows an autosomal dominant pattern of inheritance with variable penetrance, the clinical presentation of the disease is highly heterogeneous, with different degrees of severity and patterns of myocardial involvement even in patients of the same familiar group with the same gene mutation: the pathology spectrum ranges from the absence of symptoms to sudden cardiac death (SCD) sustained by ventricular arrhythmias, which may, in some cases, be the first manifestation of an otherwise silent pathology. An evidence-based systematic review of the literature was conducted to evaluate the state of the art of the diagnostic techniques for the correct post-mortem identification of ARVC. The research was performed using the electronic databases PubMed and Scopus. A methodological approach to reach a correct post-mortem diagnosis of ARVC was described, analyzing the main post-mortem peculiar macroscopic, microscopic and radiological alterations. In addition, the importance of performing post-mortem genetic tests has been underlined, which may lead to the correct identification and characterization of the disease, especially in those ARVC forms where anatomopathological investigation does not show evident morphostructural damage. Furthermore, the usefulness of genetic testing is not exclusively limited to the correct diagnosis of the pathology, but is essential for promoting targeted screening programs to the deceased's family members. Nowadays, the post-mortem diagnosis of ARVC performed by forensic pathologist remains very challenging: therefore, the identification of a clear methodological approach may lead to both a reduction in under-diagnoses and to the improvement of knowledge on the disease.
Topics: Humans; Arrhythmogenic Right Ventricular Dysplasia; Autopsy; Myocardium; Databases, Factual; Death, Sudden, Cardiac
PubMed: 38473714
DOI: 10.3390/ijms25052467 -
Sports Medicine and Health Science Mar 2024Decreased mechanical loading after orthopaedic surgery predisposes patients to develop muscle atrophy. The purpose of this review was to assess whether the evidence... (Review)
Review
Decreased mechanical loading after orthopaedic surgery predisposes patients to develop muscle atrophy. The purpose of this review was to assess whether the evidence supports oral protein supplementation can help decrease postoperative muscle atrophy and/or improve patient outcomes following orthopaedic surgery. A systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). PubMed (MEDLINE), Embase, Scopus, and Web of Science were searched for randomized controlled trials that assessed protein or amino acid supplementation in patients undergoing orthopaedic surgery. Two investigators independently conducted the search using relevant Boolean operations. Primary outcomes included functional or physiologic measures of muscle atrophy or strength. Fourteen studies including 611 patients (224 males, 387 females) were analyzed. Three studies evaluated protein supplementation after ACL reconstruction (ACLR), 3 after total hip arthroplasty (THA), 5 after total knee arthroplasty (TKA), and 3 after surgical treatment of hip fracture. Protein supplementation showed beneficial effects across all types of surgery. The primary benefit was a decrease in muscle atrophy compared to placebo as measured by muscle cross sectional area. Multiple authors also demonstrated improved functional measures and quicker achievement of rehabilitation benchmarks. Protein supplementation has beneficial effects on mitigating muscle atrophy in the postoperative period following ACLR, THA, TKA, and surgical treatment of hip fracture. These effects often correlate with improved functional measures and quicker achievement of rehabilitation benchmarks. Further research is needed to evaluate long-term effects of protein supplementation and to establish standardized population-specific regimens that maximize treatment efficacy in the postoperative period.
PubMed: 38463662
DOI: 10.1016/j.smhs.2023.08.002 -
BMJ Open Mar 2024This review aims to provide an estimate of sarcopenia prevalence and its impact on clinical characteristics in patients with systemic sclerosis (SSc). (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This review aims to provide an estimate of sarcopenia prevalence and its impact on clinical characteristics in patients with systemic sclerosis (SSc).
DESIGN
Systematic review and meta-analysis.
DATA SOURCES
Embase, Medline, Web of Science and the Cochrane Central Register of Controlled Trials were systemically searched from inception to 24 May 2023.
ELIGIBILITY CRITERIA FOR SELECTING STUDIES
We included observational studies that reported the prevalence of sarcopenia in patients with SSc.
DATA EXTRACTION AND SYNTHESIS
Two reviewers independently performed study selection and data extraction using standardised methods. Risk of bias was assessed using the Agency for Healthcare Research and Quality Scale and the Newcastle-Ottawa Scale. Meta-analysis was conducted using random effects models.
RESULTS
A total of 4583 articles were screened and 9 studies with data from 815 patients were included in the analysis (8 cross-sectional studies and 1 retrospective cohort study). The overall prevalence of sarcopenia in patients with SSc was 22% (95% CI 17% to 28%). Patients with SSc with sarcopenia had a poorer quality of life (mean difference -12.02; 95% CI -19.11 to -4.93) and higher C reactive protein (CRP) levels (standardised mean difference 0.67; 95% CI 0.35 to 1.00).
CONCLUSIONS
Sarcopenia is common in patients with SSc. Patients with SSc with sarcopenia had a worse quality of life and higher CRP levels, based on our findings. Given the detrimental impact of sarcopenia on quality of life, future efforts aimed at early identification of sarcopenia in the clinical assessment of patients with SSc may have significance.
PROSPERO REGISTRATION NUMBER
CRD42022368326.
Topics: United States; Humans; Cross-Sectional Studies; Prevalence; Quality of Life; Retrospective Studies; Sarcopenia; Scleroderma, Systemic
PubMed: 38448063
DOI: 10.1136/bmjopen-2023-078034 -
International Journal of Surgery... Apr 2024
Meta-Analysis
Topics: Sarcopenia; Humans; Postoperative Complications; Treatment Outcome; Surgical Procedures, Operative
PubMed: 38445507
DOI: 10.1097/JS9.0000000000001004 -
Medicine Mar 2024Previous studies on the association between serum uric acid (UA) levels and sarcopenia have yielded contradictory results. This meta-analysis and literature review... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Previous studies on the association between serum uric acid (UA) levels and sarcopenia have yielded contradictory results. This meta-analysis and literature review assessed the association between serum UA levels and sarcopenia. Moreover, we conducted a comparative analysis of the differences in serum UA concentrations between individuals with and without sarcopenia.
METHODS
A systematic search was conducted across various medical databases, namely PubMed, EMBASE, Web of Science, Cochrane Library, CNKI, and Wanfang (from the start to August 20, 2023). This search focused on published studies that investigated the relationship between serum UA levels and sarcopenia. The relationship between serum UA concentration and the occurrence of sarcopenia was analyzed, and the differences in serum UA concentrations between individuals with sarcopenia and control groups were reviewed. Statistical analysis was performed using STATA 11.0 and R 4.1.3.
RESULTS
Sixteen studies were considered for our analysis. The results indicated a significant association between low serum UA concentration and a higher sarcopenia risk, particularly among male patients (adjusted odds ratio = 0.65, 95% confidence interval [CI] = 0.49, 0.87, P = .004, I2 = 0%). Individuals with sarcopenia exhibited decreased serum UA concentrations compared with those of the control group (mmol/L: weighted mean difference = -28.25, 95% CI = -40.45, -16.05, P < .001; mg/dL: weighted mean difference = -0.82, 95% CI = -1.05, -0.58, P < .001). Additionally, serum UA concentration was positively correlated with skeletal muscle mass index and handgrip strength (skeletal muscle index: correlation coefficient = 0.17, 95% CI = 0.11, 0.22, P < .001; handgrip strength: common odds ratios = 0.10, 95% CI = 0.06, 0.14, P < .001).
CONCLUSION
Individuals with sarcopenia have relatively low serum UA concentrations. A notable correlation between serum UA concentration and sarcopenia was observed. Hence, monitoring UA levels could aid in the early detection and treatment of sarcopenia, enabling timely intervention to preserve muscle mass and strength.
Topics: Humans; Hand Strength; Muscle, Skeletal; Research Design; Sarcopenia; Uric Acid
PubMed: 38428844
DOI: 10.1097/MD.0000000000037376 -
Experimental Physiology Jun 2024Bed rest and limb immobilization are models of muscle disuse associated with skeletal muscle atrophy and reduced strength. The purpose of this systematic review was to... (Meta-Analysis)
Meta-Analysis
Bed rest and limb immobilization are models of muscle disuse associated with skeletal muscle atrophy and reduced strength. The purpose of this systematic review was to examine the impact of protein or amino acid provision before and/or during a period of muscle disuse on muscle atrophy (primary outcome), strength and muscle protein synthesis (secondary outcomes) following a disuse period. We performed a systematic review of Embase, MEDLINE, Web of Science, PubMed and Clinical Trials in December 2022. Eligible studies were randomized controlled trials that combined a dietary protein or amino acid intervention versus control during an experimental model of disuse (bed rest or unilateral limb immobilization) in healthy individuals aged ≥18 years. Nine articles from eight independent trials were identified and rated for risk of bias by two authors. A meta-analysis of muscle mass data revealed no effect (standardized mean difference: 0.2; 95% confidence interval: -0.18 to 0.57, P = 0.31) of protein/amino acid intervention in preventing disuse-induced muscle atrophy. Although the meta-analysis was not conducted on strength or muscle protein synthesis data, there was insufficient evidence in the reviewed articles to support the use of protein/amino acid provision in mitigating the disuse-induced decline in either outcome measurement. Additional high-quality studies, including the reporting of randomization procedures and blinding procedures and the provision of statistical analysis plans, might be required to determine whether protein or amino acid provision serves as an effective strategy to attenuate muscle atrophy during periods of disuse.
Topics: Adult; Humans; Amino Acids; Bed Rest; Dietary Proteins; Immobilization; Muscle Proteins; Muscle Strength; Muscle, Skeletal; Muscular Atrophy
PubMed: 38424716
DOI: 10.1113/EP090434 -
Urology Annals 2024Laparoscopic exploration is currently considered the gold standard for managing nonpalpable intraabdominal testes. The problem of short vascular pedicle is addressed in...
BACKGROUND
Laparoscopic exploration is currently considered the gold standard for managing nonpalpable intraabdominal testes. The problem of short vascular pedicle is addressed in Fowler-Stephen (FS) technique by the division of testicular vessels and in Shehata technique (ST) by traction on testicular vessels. There is a lack of the consensus among pediatric surgeons on the choice of one technique over other. This analysis compares the reported outcomes of staged laparoscopic orchidopexy by ST with the time tested FS technique in managing high intraabdominal undescended testis.
MATERIALS AND METHODS
The present systematic review and meta-analysis was conducted as per the preferred reporting items for the systematic review and meta-analyses guidelines. Only randomized controlled trials and comparative studies were included. The primary outcomes compared were the incidence of testicular atrophy, testicular retraction/ascent rate, and operative time of Stage I and Stage II orchidopexy.
RESULTS
The present analysis was based on three randomized studies with a total of 119 undescended testes in 117 patients satisfying the inclusion criteria. The operative time was less in Stage I FS technique; however, there was no statistically significant difference in operative time of both procedures during the Stage II laparoscopic orchidopexy. Pooled analysis of postintervention testicular atrophy, testicular retraction rate, and duration of postoperative hospitalization showed no difference between both procedures.
CONCLUSION
Both FS and STs are comparable in terms of postintervention testicular atrophy, testicular retraction/ascent; however, the mean operative time is significantly less with FS technique in Stage I laparoscopic orchidopexy.
PubMed: 38415237
DOI: 10.4103/ua.ua_11_23