European Journal of Translational Myology最新文献

Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more often cardiac dysfunction, can lead to death. No effective treatment of this condition exists to date. Here, we report two patients with KSS. Female patient with a large-scale deletion of 7,020 base pairs (bp) suffered from hypogonadism, diabetes mellitus with fluctuating glucose levels, and had poor general health. A male patient with a common 4,977 bp deletion did not have diabetes mellitus but had impaired glucose tolerance. He also had a higher level of general health than our female patient. Both patients had reduced Bone Mineral Density (BMD). In female patients, calcium and vitamin D supplementation combined with metabolic therapy and nutritional drink supplements helped increase BMD (up to 32% in L1-L4). Comparing these two patients suggests that the larger the mtDNA deletion is, the more severe the course of the disease is. Not only does the size of the mtDNA deletion probably determine the severity of the disease, but also such factors as mtDNA heteroplasmy level, presence of mtDNA duplications, and pleioplasmy. Moreover, continuous nonconsecutive metabolic therapy and nutritional supplements are helpful in the prevention of deterioration of symptoms and general health.

Among the numerous changes that occur in skeletal muscle during aging, the reduced regeneration potential after an injury is largely due to the impaired ability of satellite cells to proliferate and differentiate. Herein, using the freeze-fracture electron microscopy technique, we analyzed both the incidence and size of dihydropyridine receptors (DHPRs) tetrads (4 particles) in cultured myotubes from a young subject (28 years) after 9 days of differentiation and from an old subject (71 years) after 9 and 12 days of differentiation. Compared to young myotubes, at 9 days of differentiation old myotubes exhibited: i) a lower incidence and a smaller size of DHPR clusters and ii) a lower number of complete tetrads. At 12 days of differentiation values of incidence, size and number of complete tetrads in old myotubes were instead comparable with those of young myotubes at 9 days of differentiation. Collectively, these results indicate that in aged myotubes the synthesis process of the proteins involved in the excitation-contraction coupling mechanism, such as the DHPR, is somehow slowed, supporting previous studies evidence of a decrease in the differentiation potential of myotubes from elderly individuals.

This study aims to evaluate the efficacy of selective laser trabeculoplasty in improving the intraocular pressure in patients diagnosed with open-angle glaucoma. A comprehensive search was performed across electronic databases, including PubMed, Scopus, and Web of Science, until June 2024, using keywords related to "selective laser trabeculoplasty" and "open-angle glaucoma." Studies were chosen based on set eligibility criteria. Data extraction was carried out by two independent reviewers, and statistical analyses were performed using a random-effects model to calculate the pooled mean differences in IOP reduction and overall success rates. The initial search yielded 3111 articles, with 23 studies included in the systematic review and 22 in the meta-analysis. The pooled MD in IOP reduction between the SLT and control groups was -1.44 mm Hg (95% CI: -2.19 to -0.70, p < 0.01). Subgroup analyses revealed a MD of -0.76 mm Hg (95% CI: -1.31 to -0.21, p < 0.01) when comparing SLT to medication, and -0.42 mm Hg (95% CI: -0.64 to -0.19, p < 0.01) when comparing 180-degree SLT to 360-degree SLT. The pooled success rate favored SLT with an odds ratio (OR) of 0.71 (95% CI: 0.51 to 0.99, p = 0.05). There was significant heterogeneity among the studies (I² = 71%). SLT is effective in lowering IOP in OAG patients, demonstrating significant efficacy compared to medication and different SLT protocols. The findings underscore SLT's potential as a reliable treatment option. However, the observed heterogeneity underscores the necessity for standardized protocols in future research to improve comparability and verify SLT's long-term effectiveness.

Acute muscle pain is muscle soreness that occurs during or within 24 hours of strenuous activity. Possible causes of acute muscle pain include localized muscle trauma, muscle tear, contusion with acute hemorrhage, or acute compartment syndrome. Isolated ruptures of the rectus femoris muscle are rare clinical conditions that result from excessive muscle strain following an abrupt contraction, incorrect movement, or sudden snap that exceeds the physiological limit of strain that the muscle can withstand. To date, there are few published reports evaluating the results of non-invasive treatment of such injuries. Herein, we report an unusual case of isolated distal rectus femoris tear in a 46-year-old female patient with no risk factors, who initially presented with extensor muscle weakness and pain and was treated conservatively with functional rest, physiotherapy, and cryotherapy.

Hand-grip strength was evaluated in 757 recreational downhill skiers and compared to 1021 community-dwellers. Findings are reported for age and sex categories consistent with community-dwelling norms. Effect size (Cohen's d) was calculated to estimate the clinical relevance of strength differences between populations. Most male and half of the female age categories of downhill skiers demonstrated higher grip strength of the dominant hand (moderate to large effect size) compared to the reference population. Hand-grip strength in skiers declined with age at a similar rate as in the reference population. Relative grip strength (per kg body mass) was significantly and positively correlated with physical activity (hours/week), and with the number of ski days per year, and negatively with body mass. Thus, hand-grip strength may be related to the type, volume and intensity of exercise regularly performed. These results can help to assess whether the individual hand-grip strength is above or below average with regard to the normal population and the skier population as well and will support advice for training and/or rehabilitation.

Explosive strength is fundamental in the performance of athletes. The objective is to identify the criteria used for the prescription of Explosive Strength Training (EST) and to verify the changes it produces in futsal players. A systematic review of studies analyzing the criteria used for the prescription of explosive strength training was conducted in PubMed/MEDLINE and Scielo, considering the period between 2017 and 2023. The search strategy used the terms: players, Futsal, Futsal training, strength, physical exercise, explosive strength, intervention, experimental study. Data extraction included: year of publication, country, sample, protocol performed (content and activity developed, duration, intensity, frequency, total weeks). A total of six studies were identified. Fifty percent of the studies were developed in Brazil, the others in Italy, Spain and Portugal. Five studies applied a training of 2 sessions per week and one indicated 2-3 sessions. Three studies describe the training sessions (study 1: 15-30 minutes, study 2: 20-25 minutes, study 3: 1 hour). Five studies used 1RM and one study used subjective perception of exertion (PSE). The contents of the interventions were varied, from squats with weights, accelerations and decelerations, leg press, leg extension, plyometrics. The training criteria for explosive strength were: intensity controlled by a 1RM, frequency of 2 to 3 sessions per week, duration of 15 to 30 minutes per session and the training contents were varied. These results suggest positive changes in CMJ, increasing explosive strength from ∼2.0 to 4.6 cm (5.8 to 13.7%). These findings highlight the need to develop a more standardized protocol to optimize the benefits of explosive strength training in this athletic population.

Realizar un análisis bibliométrico integral de la productividad científica relacionada con programas de intervención que buscan mejorar la función cognitiva en adultos mayores, según revista, país y tema de intervención en la base de datos pubmed. Se realizó un estudio bibliométrico durante el periodo 2018 al 2023. La búsqueda bibliográfica se realizó en la base de datos PubMed. Los términos de búsqueda fueron: cognitivecayden, cognitivecayden, exercise program, intervention program, physical exercise,older adult, elderly. Cada artículo identificó: año de publicación, idioma de publicación, país de publicación, nombre de la revista y tema del estudio. Se utilizaron los lineamientos establecidos por PRISMA. Se incluyeron 51 publicaciones científicas, analizadas en 34 revistas. China lidera con 14 estudios (27,5%), seguido de Estados Unidos con 5 artículos (9,8%). Corea y Singapur están en tercer lugar con 4 estudios cada uno (7,8%), seguido de Japón con 3 estudios (5,9%). En cuanto al idioma de publicación, el 96,1% (n=49) fueron publicados en inglés. Solo el 3,9% (n=2) fueron publicados en español. La revista con mayor frecuencia de publicaciones fue Nutrients, con 6 artículos publicados, lo que representa el 11,8% del total y destaca como líder en este campo. Le siguió BMC Geriatrics con 3 artículos publicados, lo que representa el 5,9% del total. Destaca el aumento de las investigaciones sobre intervenciones para el deterioro cognitivo en OA, concentradas principalmente en los años 2020 y 2023. China lidera la producción de estudios seguida de Estados Unidos, Corea y Singapur. Los programas de intervención más estudiados incluyen el ejercicio y el deporte, seguido de la nutrición y el entrenamiento computarizado. Destaca la revista "Nutrients" con mayor número de artículos, seguida de "BMC Geriatrics".

This study aimed to investigate changes in protein signaling associated with muscle regeneration in aged rats with obesity and diabetes following high-intensity interval training (HIIT) and SP supplementation. Forty male Wistar rats weighting 280-325 g were used in this study. Obesity was induced by eight weeks of a high-fat diet, and diabetes was induced by intraperitoneal injection of 40 mg/kg streptozocin. Rats were randomly divided into control (CON), sham, SP, HIIT, and HIIT+SP groups. HIIT was performed five times per week during the 8-week period. SP dose was 50 mg/kg. Real-time PCR was used to evaluate the expression of myogenin, MyoD1, and Pax7. The decreases in body mass in the HIIT, HIIT+SP and SP groups were significantly higher than those in the sham and CON groups (p=0.0001). The soleus muscle mass increased significantly only in the HIIT and HIIT+SP groups (p<0.01). HIIT+SP improved fasting blood glucose and insulin levels more than HIIT alone and SP (p<0.05), while HIIT increased the expression levels of myogenic factors more than other groups (p=0.0001). In conclusion HIIT alone had a significant impact on myogenic factors, whereas Spirulina had an effect only when combined with HIIT.

Introduction: Adipocyte levels including leptin and FABS-4 levels, adiponectin, obesity, and vitamin D can be related to the occurrence and exacerbation of MS disease.

Objective: This research aimed at determining the relationship between VDR gene changes and clinical and inflammatory factors in patients with relapsing-remitting multiple sclerosis (RRMS).

Method: This case/control study was conducted based on the ethical principles of Helsinki. RRMS disease was confirmed based on history, clinical signs, radiological signs, and neurologist's diagnosis. The research population consisted of healthy people and patients with RRMS referring to Hazrat Rasool Akram Hospital between 2021 and 2023 who met the criteria for entering the research.

Results: FokI polymorphism is associated with a substantial increase in risk, with an odds ratio of 7.28, for those with the FF genotype who have RRMS compared to healthy individuals (OR=7.28: 95% CI; 1.86, 28.41). The presence of FokI polymorphism significantly raises the likelihood of developing RRMS in persons with the FF genotype compared to healthy individuals, with an odds ratio of 28.7. RRMS patients with genotypes did not exhibit a significant increase in risk compared to controls for FokI, ApaI, TaqI, and BsmI polymorphisms.

Conclusion: None of the studied polymorphisms revealed a significant risk in obese patients with different genotypes compared to the obese people. Further research, including more cases, is needed to avoid results that could be inflated by small samples or low frequencies of minor alleles.

We collected biosignals from 63 participants and extracted the features corresponding to each level of exerted muscle force. Data were classified into typical and atypical patterns. Data analysis was performed using the Linear Latent Curve Model (LCM) and the Conditional Linear LCM. The typical patterns demonstrated a high degree of fit. Factors, such as ankle circumference and muscle mass, influenced the model intercept. A larger ankle circumference indicated attenuation of signal transmission from the tendon to the skin surface, leading to lower biosignal values.  These results indicate that biosignals from the tendons near the ankle can be captured using piezoelectric film sensors. There are studies that define biosignals originating from tendons as mechanotendography. It has been demonstrated that the relationship between biosignals originating from tendons and the exerted muscle force can be explained linearly. Insights from this study may facilitate individualized approaches in the fields of motion control and rehabilitation. Physiological studies to elucidate the mechanisms underlying biosignal generation are necessary.