Search Results (197)

Background: A common tactic used by athletes to improve performance, lessen tiredness, and hasten recovery is dietary supplementation. We aimed to assess the role of a microalgae dietary liquid supplement additivated with Copper 22.5% NRV in water polo players’ performance. Methods: Twenty male water polo players were split into two groups: ten (spirulina group) took a twice-daily nutritional supplement containing 15 mL of spirulina liquid extract (titrated in Phycocyanin 1 mg/mL) and additivated with Copper 22.5% NRV for eight weeks, and ten (the placebo group) did not take the supplement. Subjective evaluations were finished using the Athlete’s Subjective Performance Scale (ASPS). Levels of the biomarker creatine phosphokinase (CPK) were also assessed. Results: The spirulina group’s mean total ASPS score increased significantly from baseline to follow-up and was significantly better than that of the placebo group (p < 0.001). Conversely, ASPS ratings in the placebo group slightly decreased. A positive correlation between spirulina supplementation and less severe ASPS was found using correlation matrix analysis. However, there was a slight difference in CPK levels from the baseline to the follow-up in the spirulina group. Conclusions: A dietary supplement comprising spirulina and copper may help water polo players’ subjective performance measurements by lowering muscular tension. Larger, randomized controlled trials are yet required. Full article

Background This study examines spinal muscular atrophy (SMA), a neuromuscular disease associated with malnutrition. Our goals are to assess how effectively screening tools can detect malnutrition and evaluate the impact of nutritional interventions on neurological outcomes, particularly motor functions. Methods Thirty-seven genetically diagnosed SMA patients (types 1, 2, and 3) under nusinersen therapy were included in the study. The nutritional status of these patients was assessed by using anthropometric measurements, including height for age (HFA), weight for height (WFH), and body mass index (BMI) before and after the study. Additionally, the risk of malnutrition was determined using screening tools, namely the Pediatric Yorkhill Malnutrition Score (PYMS) and the Screening Tool for the Assessment of Malnutrition in Pediatrics (STAMP). Nutritional counseling followed the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) guidelines and considered the patients’ dietary history, including content and administration method. Motor functions were assessed by validated tests: the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Hammersmith Functional Motor Scale—Expanded (HFMSE). Result The study showed an improvement in HFA, by a change from −0.95 to −0.65 (p = 0.015). Conversely, BMI scores decreased from 0.08 to −0.54 (p = 0.015), while WFH and MUAC showed no significant alterations (p = 0.135, p = 0.307). Following nutritional interventions, HFMSE demonstrated a median increase from 29.5 to 30.5 (p = 0.023). Patients identified as being at high risk for malnutrition based on PYMS and STAMP belonged to the moderate-to-severe malnutrition group (BMI Z-score ≤ −2, p = 0.001). Conclusions Use of screening tools in SMA patients is highly beneficial for the early detection of malnutrition. Future research should highlight the importance of combining nutritional management with nusinersen therapy to potentially alter the disease trajectory, especially in motor and neurological functions. Full article

Background: In recent years, rapid advances in diagnosis and treatment have been observed in spinal muscular atrophy (SMA) patients. The introduction of modern therapies and screening tests has significantly changed the clinical picture of the disease. The previous classification has, therefore, been replaced by new phenotypes: non-sitters, sitters, and walkers, defined by the patient’s functional level. However, despite the change in the clinical picture of the disease, patients still suffer from accompanying structural disorders such as scoliosis or joint contractures. Their presence also significantly affects the acquisition of subsequent motor skills. Due to this, monitoring structural changes and ensuring therapists are aware of improvements or declines in patient functionality are essential components of clinical practice. This study aims to compare the assessment of structural and functional changes after a 12-month follow-up in SMA patients who have already experienced the effects of the disease and are now receiving modern therapy. Methods: We present a study of 34 SMA patients being treated with modern therapies and tested twice 12 months apart. The participants were tested using structural measurements and validated scales such as The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and Hammersmith Functional Motor Scale–Expanded (HFMSE). Results: During the 12-month follow-up, patients showed deteriorating, non-statistically significant structural changes. We also proved that patients showed a trend toward functional improvement. Analyzing the individual scale items, we distinguished which participants obtained the maximum score for a given parameter and no longer had an opportunity to improve during the second examination. Conclusions: Our study proved that most patients improved overall motor function. The examination of structural measurements should become a standard in the evaluation of SMA patients. Full article

Introduction: Spinal muscular atrophy (SMA) is a genetically determined disease primarily leading to muscle weakness, but now, it is considered a systemic disease with changes in various tissues and organs. In our study, we aimed to compare quality of life (QoL) outcomes in patients with SMA in relation to the degree of motor limitation and comorbidities, mainly internal medicine diseases. Methods: We included 35 adult patients with SMA and 36 healthy volunteers. Thorough medical histories were taken focusing on comorbidities, and neurological examinations incorporating assessments using functional motor scales were performed. QoL was assessed based on the World Health Organization Quality of Life Brief Version (WHOQOL-BREF) questionnaire. Results: SMA patients and controls were comparable in terms of scores in the questionnaire’s main domains. SMA patients presented significantly higher levels of satisfaction with their medical care than controls. Patients with more advanced SMA had significantly better scores on certain questions, e.g., those related to health satisfaction or leisure activities. A total of 71.4% of SMA patients had comorbidities, ranging from one to three in individual patients. SMA patients with comorbidities did not show worse QoL. Negative correlations were found between the number of comorbidities in SMA patients and individual questions on the WHOQOL-BREF questionnaire. Conclusions: Patients with SMA were satisfied with their medical care. Better scores on some questions in more advanced SMA may have been due to better adaptation to disease-related limitations. The presence of single comorbidities did not affect QoL, but a higher number of comorbidities negatively correlated with QoL. Full article

Background and Objectives: As a treatment modality for advanced knee osteoarthritis, total knee arthroplasty is well established and has been performed on many patients over time. To improve surgical outcomes, fixed-bearing implant insertion with robotic-assisted TKA has been introduced; however, the insertion of mobile-bearing (MB) implants with the same method is challenging. The aim of this study was to compare the short-term postoperative follow-up outcomes of MB implant insertion using a robotic-assisted TKA system and conventional TKA. Materials and Methods: We investigated functional improvement in the knees of 60 patients who underwent the insertion of MB implants using either robotic-assisted TKA or conventional TKA. Isokinetic muscular function, range of motion, the Western Ontario and McMaster Universities Osteoarthritis Index score, visual analog scale (VAS) score, and Knee Society Score (KSS) were measured 6 months after surgery. The statistical analysis of outcome measurements was performed using the Mann–Whitney U test and the Wilcoxon signed-rank test. Results: Some isokinetic muscular functions, as well as Knee Society Scores (pain and function) and VAS scores, were significantly higher in patients who underwent MB insertion with robotic-assisted TKA than in those who underwent conventional TKA. Conclusions: When an MB implant is inserted using a robotic-assisted TKA system, a better surgical outcome can be expected. Full article

The progression of Duchenne muscular dystrophy (DMD)requires the assessment of nutritional disturbances at each stage of the disease. The purpose of this study was to assess the nutritional status in various ages of boys with DMD using screening and in-depth evaluation methods. Body composition by Dual X-ray Absorptiometry (DXA), basal metabolic rate (BMR) by indirect calorimetry, a questionnaire of nutritional status—Pediatric Nutrition Screening Tool (PNST)—and laboratory parameters were performed. In the cohort of 93 boys aged 8.54 (5.9–12.6 years), inappropriate nutritional status occurred in 41.8% of boys (underweight 11.8%, overweight 16.0%, and obesity 14.0%). In the 10–13 age group, the occurrence of overweight and underweight was the highest. Based on PNST, 15.1% of patients were at nutritional risk (≥2 points)—the most in the 14–17 age group (29%). A negative correlation was identified between PNST and z-scores of body weight, BMI, and FFMI (r Spearman = −0.49, −0.46, and −0.48, respectively; p < 0.05). There were no differences between BMR results from indirect calorimetry and calculations from the Schofield formula for any age group. In obese boys, the caloric requirement in indirect calorimetry was significantly lower than that indicated by the calculations according to the Schofield formula (p < 0.028). Inappropriate nutritional status occurred in almost half of the children with DMD. The age group in which nutritional disorders were most frequently identified was 10–13 years old. PNST could be considered a tool for screening malnutrition after testing a larger group of DMD patients. Full article

Aim and Background: To determine whether occupational physical activity (OPA) and physical fitness (Fitscore) predict cardiovascular disease (CVD) mortality and its components. Methods: Among middle-aged men (N = 5482) of seven cohorts of the Seven Countries Study (SCS), several baseline risk factors were measured, and there was a follow-up for 60 years until virtual extinction. OPA was estimated from the type of work while Fitscore was derived from linear combinations of levels of arm circumference, heart rate and vital capacity computed as a factor score by principal component analysis. The predictive adjusted power of these characteristics was obtained by Cox models for coronary heart disease (CHD), heart diseases of uncertain etiology (HDUE), stroke and CVD outcomes. Results: Single levels of the three indicators of fitness were highly related to the three levels of OPA and Fitscore. High levels of both OPA and Fitscore forced into the same models were associated with lower CVD, CHD, HDUE and stroke mortality. When assessed concomitantly in the same models, hazard ratios (high versus low) for 60-year CVD mortality were 0.88 (OPA: 95% CI: 0.78–0.99) and 0.68 (Fitscore 95% CI: 0.61–0.75), and the predictive power of Fitscore outperformed that of OPA for CHD, HDUE and stroke outcomes. Similar results were obtained in individual outcome models in the presence of risk factors. Segregating the first 30 from the second 30 years of follow-up indicated that people dying earlier had lower arm circumference and vital capacity, whereas heart rate was higher for CVD and most of its major components (all p < 0.0001). Conclusions: OPA was well related to the indicators of fitness involving muscular mass, cardio-circulatory and respiratory functions, thus adding predictive power for CVD events. The Fitscore derived from the above indicators represents another powerful long-term predictor of CHD, HDUE and stroke mortality. Full article

Animal-sourced whey protein (WPr) is the most popular protein supplement among consumers and has been shown to improve muscle mass and strength. However, due to allergies, dietary restrictions/personal choices, and growing demand, alternative protein sources are warranted. Sedentary adults were randomized to pea protein (PPr) or WPr in combination with a weekly resistance training program for 84 days. Changes in whole-body muscle strength (WBMS) including handgrip, lower body, and upper body strength, body composition, and product perception were assessed. The safety outcomes included adverse events, vital signs, clinical chemistry, and hematology. There were no significant differences in the change in WBMS, muscle mass, or product perception and likability scores between the PPr and WPr groups. The participants supplemented with PPr had a 16.1% improvement in WBMS following 84 days of supplementation (p = 0.01), while those taking WPr had an improvement of 11.1% (p = 0.06). Both study products were safe and well-tolerated in the enrolled population. Eighty-four days of PPr supplementation resulted in improvements in strength and muscle mass comparable to WPr when combined with a resistance training program in a population of healthy sedentary adults. PPr may be considered as a viable alternative to animal-sourced WPr without sacrificing muscular gains and product enjoyment. Full article

Duchenne muscular dystrophy (DMD) is a disease that primarily affects males and causes a gradual loss of muscle strength. This results in a deterioration of motor skills and functional mobility, which can impact the performance of various occupations. Individuals with DMD often rely heavily on caregivers to assist with daily activities, which can lead to caregiver burden. A case study was conducted to explore and describe potential variations in the performance of a young adult diagnosed with DMD and his caregivers resulting from the integration of smart speakers (SS)-controlled Internet of Things (IoT) devices in the home environment. The study also examined the potential of SS as an environment control unit (ECU) and analysed variations in caregiver burden. Smart devices and SS were installed in the most frequently used spaces, namely, the bedroom and living room. The study employed WebQDA software to perform content analysis and Microsoft Excel to calculate the scores of the structured instruments. The implementation of the IoT-assisted environment compensated for previously physical tasks, resulting in a slight increase in independent performance and reduced demands on caregivers. Full article

Background and Objective: Patients with spinal muscular atrophy (SMA) treated with a disease-modifying therapy (DMT) are often classified as responders or non-responders based on the attainment of a specific improvement threshold on validated functional scales. This categorization may significantly impact treatment reimbursement in some countries. The aim of this research is to evaluate the perception of treatments and their benefit by patients considered as responders or non-responders. Methods: In this non-commercial multicenter study, 99 post-symptomatically treated SMA type I–III patients with a median age of 11.2 (0.39–57.4) years at treatment initiation were stratified into three groups based on their treatment outcomes, i.e., those exhibiting clinically significant improvement (N = 41), those with non-clinically significant improvement (N = 18), or those showing no improvement (N = 40). Fifteen months after treatment, the initiation patients or patients’ caregivers were assessed using a patient-rated scoring system based on the Patient Global Impression of Change (PGIC) scale, comprising 22 questions targeting important aspects and tasks in the daily life of patients with SMA. Results: We found no statistical difference in the patient perception of treatment benefits in 17 out of 22 domains across patient groups. Conclusions: Our results suggest that functional motor scales do not recapitulate patients’ and patients’ caregivers’ experience of the effect of nusinersen treatment in SMA. Full article

Muscular dystrophies present diagnostic challenges, requiring accurate classification for effective diagnosis and treatment. This study investigates the efficacy of deep learning methodologies in classifying these disorders using skeletal muscle MRI scans. Specifically, we assess the performance of the Swin Transformer (SwinT) architecture against traditional convolutional neural networks (CNNs) in distinguishing between healthy individuals, Becker muscular dystrophy (BMD), and limb–girdle muscular Dystrophy type 2 (LGMD2) patients. Moreover, 3T MRI scans from a retrospective dataset of 75 scans (from 54 subjects) were utilized, with multiparametric protocols capturing various MRI contrasts, including T1-weighted and Dixon sequences. The dataset included 17 scans from healthy volunteers, 27 from BMD patients, and 31 from LGMD2 patients. SwinT and CNNs were trained and validated using a subset of the dataset, with the performance evaluated based on accuracy and F-score. Results indicate the superior accuracy of SwinT (0.96), particularly when employing fat fraction (FF) images as input; it served as a valuable parameter for enhancing classification accuracy. Despite limitations, including a modest cohort size, this study provides valuable insights into the application of AI-driven approaches for precise neuromuscular disorder classification, with potential implications for improving patient care. Full article

Background: Sarcopenic obesity (SO) is the combination of excess fat, skeletal muscle and muscular strength/function deficit. The ESPEN/EASO have proposed new diagnostic criteria, but the SO prevalence in patients with severe obesity remains to be established. The aim of this study was to establish the SO prevalence in a large cohort of inpatients with obesity, considering sex, age, BMI, type, and number of concomitant diseases. Methods: Patient data of both genders aged between 18 and 90 years with a body mass index (BMI) of ≥30 kg/m² underwent hospital evaluation including bioelectrical impedance analysis (BIA) and handgrip strength (HS). QoL scores were obtained by the Psychological General Well-Being Index questionnaire. The study was approved by the institutional Ethic Committee. Results: Among the 3858 patients, 444 (11.51%) exhibited a strength deficit, while 3847 (99.71%) had skeletal muscle mass deficit. The prevalence of SO was then 11.48%, with higher rates in women (12.39%), in individuals aged >70 years (27%), and in those reporting a ‘poor’ QoL (12.6%). No significant difference in SO prevalence was found when stratifying by BMI (30–40 kg/m² vs. >40 kg/m², p = 0.1710). In SO patients, osteoarticular diseases (57%), hypertension/heart failure (38%), type 2 diabetes mellitus (34%), and obstructive sleep apnea (32%) were the more frequent comorbidities. Conclusions: The application of ESPEN/EASO-SO criteria in a cohort of inpatients with severe obesity revealed 11.48% SO prevalence, which was associated with age (particularly > 70 years), gender (women), but not BMI, as determinants. Disease staging and QoL screening may improve the identification of SO high-risk patients. Full article

Botulinum neurotoxins E (BoNT/E) and A (BoNT/A) act by cleaving Synaptosome-Associated Protein 25 (SNAP25) at two different C-terminal sites, but they display very distinct durations of action, BoNT/E being short acting and BoNT/A long acting. We investigated the duration of action, spread and neuronal transport of BoNT/E (6.5 ng/kg) and BoNT/A (125 pg/kg) after single intramuscular administrations of high equivalent efficacious doses, in rats, over a 30- or 75-day periods, respectively. To achieve this, we used (i) digit abduction score assay, (ii) immunohistochemistry for SNAP25 (N-ter part; SNAP25^N-ter and C-ter part; SNAP25^C-ter) and its cleavage sites (cleaved SNAP25; c-SNAP25^E and c-SNAP25^A) and (iii) muscular changes in histopathology evaluation. Combined in vivo observation and immunohistochemistry analysis revealed that, compared to BoNT/A, BoNT/E induces minimal muscular changes, possesses a lower duration of action, a reduced ability to spread and a decreased capacity to be transported to the lumbar spinal cord. Interestingly, SNAP25^C-ter completely disappeared for both toxins during the peak of efficacy, suggesting that the persistence of toxin effects is driven by the persistence of proteases in tissues. These data unveil some new molecular mechanisms of action of the short-acting BoNT/E and long-acting BoNT/A, and reinforce their overall safety profiles. Full article

Background/Objectives: Alexithymia is characterized by a deficit in identifying and communicating feelings. Emerging evidence suggests that alexithymia is highly prevalent in migraine, in a complex interplay with psychiatric comorbidity. Pericranial/cervical muscle tenderness is a remarkable clinical feature in a large proportion of migraine patients. This pilot study aimed at investigating the relationship between alexithymia and pericranial/cervical muscle tenderness in female migraineurs. Methods: A total of 42 female patients fulfilling the diagnostic criteria for migraine were enrolled into this pilot, observational, cross-sectional study after informed consent was obtained. Each patient underwent a psychological assessment to identify any alexithymia by means of TAS-20, anxiety/mood comorbidity (by means of STAI-Y1 STAI-Y2, BDI-II), and migraine-related disability (by means of HIT-6), and a physical cranial/cervical musculoskeletal examination. Palpation of pericranial and cervical muscles was carried out in the standardized manner. A Cumulative Muscle Tenderness (CUM) score (0–6) was calculated for each patient. A multivariate analysis was performed to investigate any association amongst the TAS-20 score, the CUM score, and the following covariates: BDI-II, STAI-Y1, STAI-Y2, and HIT-6 scores, age, disease duration, monthly migraine days, and average head pain intensity in the previous three months. Results: Overall, 35.6% of the sample had alexithymia. The multivariate analysis detected a linear and independent relationship between the TAS-20 and CUM scores, with a statistically significant (p = 0.017) association. Conclusions: This pilot study suggests that alexithymia plays a role in increasing pericranial/cervical muscle tenderness in migraine, independently from psychiatric comorbidity. A novel therapeutical approach, targeting alexithymia, may well reduce muscular tenderness in female migraineurs. Full article

Muscular temporomandibular joint disorders (M-TMDs) encompass a wide range of painful muscular conditions, which can provoke functional limitation and severely affect quality of life. The aim of the present study was to assess the treatment outcomes in patients affected by M-TMDs in terms of pain scores assessed with pressure pain threshold (PPT). The levels of depression, anxiety, and the Oral Health Impact Profile were also assessed and compared to healthy controls. Patients with a clinical diagnosis of M-TMDs and a control group of healthy subjects were enrolled. At baseline, OHIP-14, PHQ-9, and GAD-7 were administered. PPT was registered at the level of masseter and temporalis muscles. The patients affected by M-TMDs were then treated with oral splints and physio-kinesiotherapy following a standardized treatment protocol. At the 6-month follow-up of M-TMD-affected patients, PPT was registered, and the questionnaires were re-administered to evaluate treatment outcomes. In total, sixty patients and sixty controls were enrolled. The treatment of M-TMDs produced a significant improvement in PPT at the level of the masseter muscle. OHIP-14 at baseline in the M-TMD group was significantly higher compared to the control group (p < 0.05). At the 6-month follow-up, a significant reduction in OHIP-14 scores was registered, although with higher scores compared to the control group (p < 0.05). PHQ-9 was significantly higher at baseline in the M-TMD group (p < 0.05) and decreased to values comparable to the control group after treatment. GAD-7 presented statistically significant differences between the control group and M-TMD patients at baseline (p < 0.05) and between pre- and post-treatment in the M-TMD group. Following treatment, the GAD-7 scores were comparable to the control group. The symptom burden associated with M-TMDs negatively affects quality of life, with higher oral health impairment and a tendency towards depression and anxiety compared to healthy subjects. Following treatment, an improvement in both PPT and quality of life was observed. Full article