An 8-month adapted motor activity program in a young CMT1A male patient.

Background: It is unclear whether prolonged periods of training can be well tolerated. In Charcot-Marie Tooth disease (CMT). We report the effects of an 8-month, adapted motor activity (AMA) program in a 16-years-old CMT1A male patient. The program included strength, mobility, and balance training (two sessions per week, 1 h per session). Measures: Walking ability and walking velocity (Six-Minute Walking Test-6MWT, Ten Meters Walking Test-10 mW T), balance (Y-Balance Test-YBT, Berg Balance Scale-BBS), functional mobility (Short Physical Performance Battery-Short physical performance battery), fatigue (Checklist Individual strength questionnaire - CIS20R), health and quality of life (Short Form Health Survey 36 questionnaire-SF-36) were evaluated in three moments: before (T0), after 5 (T1) and 8 (T2) months of adapted motor activity. Dorsal and plantar foot flexion strength (Maximal Voluntary Contraction-maximum voluntary contraction) and neuromuscular functions (Electromyography-sEMG, interpolated twitch technique-ITT) were measured at T1 and T2. Results: Relative to T0, an amelioration of walking ability (6MWT, +9,3%) and balance (with improvements on Y-balance composite normalized mean reach of the right and left limb of 15,3% and 8,5%, respectively) was appreciable. Relative to T1, an increase in foot strength in three out of four movements (right plantar flexion, +39,3%, left plantar flexion, +22,7%, left dorsal flexion, 11,5%) was observed. Concerning voluntary muscle activation, a greater recruitment in the left, unlike right, medial gastrocnemius was observed. Conclusion: Results suggest the safety of an 8-month AMA program in a young patient affected by CMT1A.

Fatigue in Spinal Muscular Atrophy: a fundamental open issue.

Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life. All the clinical variants share the same molecular defect, the difference being driven mainly by the copy number of SMN2 gene, a centromeric gene nearly identical to SMN1 with a unique C to T transition in Exon 7 that results in exclusion of Exon 7 during post-transcriptional processing. In all the types of SMA the clinical picture is characterized by hypotonia, weakness and areflexia. Clinical severity can vary a lot between the four main recognized types of SMA. As for the most of patients affected by different neuromuscular disorders, also in SMA fatigability is a major complaint as it is frequently reported in common daily activities and negatively impacts on the overall quality of life. The increasing awareness of fatigability as an important dimension of impairment in Neuromuscular Disorders and particularly in SMA, is making it both a relevant subject of study and identifies it as a fundamental therapeutic target. In this review, we aimed to overview the current literature articles concerning this problem, in order to highlight what is known and what deserves further research.

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.

BACKGROUND: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). METHODS: People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age. RESULTS: 368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73-0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51-0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B). CONCLUSIONS: PAs at a young age are associated with a lower clinical score in the adult A and D FSHD subcategories. These results corroborate the need to consider PAs at the young age as a fundamental indicator for the correct clinical stratification of the disease and its possible evolution.

Gut-muscle-brain axis: Molecular mechanisms in neurodegenerative disorders and potential therapeutic efficacy of probiotic supplementation coupled with exercise.

Increased longevity is often associated with age-related conditions. The most common neurodegenerative disorders in the older population are Alzheimer's disease (AD) and Parkinson's disease (PD), associated with progressive neuronal loss leading to functional and cognitive impairments. Although symptomatic treatments are available, there is currently no cure for these conditions. Gut dysbiosis has been involved in the pathogenesis of AD and PD, thus interventions targeting the "gut-brain axis" could potentially prevent or delay these pathologies. Recent evidence suggests that the skeletal muscle and the gut microbiota can affect each other via the "gut-muscle axis". Importantly, cognitive functions in AD and PD patients significantly benefit from physical activity. In this review, we aim to provide a comprehensive picture of the crosstalk between the brain, the skeletal muscle and the gut microbiota, introducing the concept of "gut-muscle-brain axis". Moreover, we discuss human and animal studies exploring the modulatory role of exercise and probiotics on cognition in AD and PD. Collectively, the findings presented here support the potential benefits of physical activity and probiotic supplementation in AD and PD. Further studies will be needed to develop targeted and multimodal strategies, including lifestyle changes, to prevent or delay the course of these pathologies.

Type 1 diabetes management in a competitive athlete: A five-year case report.

Type I diabetes has an incidence of 15 per 100,000 people. Though it is a metabolic disorder, it can be seen in top, even professional athletes. Physical activity is recommended to manage diabetes, but there is a lack of specific knowledge on diabetes management and exercise from dedicated medical staff. This bias leads to suboptimal diabetes management, causing frequent hyper and hypoglycemia, a dysregulation of glycated hemoglobin, blood glucose out of control, and consequent needs to often intervene with extra insulin or carbohydrates. For 5 years, we followed a highly competitive male Caucasian athlete Vovinam Viet Vo Dao, with type I diabetes, aged 17. We monitored his glycated hemoglobin, the insulin drug administered, and glycemia blood level averages. We obtained, over time, a decrease in glycated hemoglobin by almost -22% and insulin administered by -37.33%, and average blood glycemia levels diminished by almost -27%. In addition, we carried out bioimpedance analysis and stratigraphy on the abdomen. Federation trainers supervised all physical training; we recorded an improvement in the general condition, underlined in particular by an increase in phase angle (from bioimpedance) of +17%.

A balanced formula of essential amino acids promotes brain mitochondrial biogenesis and protects neurons from ischemic insult.

Mitochondrial dysfunction plays a key role in the aging process, and aging is a strong risk factor for neurodegenerative diseases or brain injury characterized by impairment of mitochondrial function. Among these, ischemic stroke is one of the leading causes of death and permanent disability worldwide. Pharmacological approaches for its prevention and therapy are limited. Although non-pharmacological interventions such as physical exercise, which promotes brain mitochondrial biogenesis, have been shown to exert preventive effects against ischemic stroke, regular feasibility is complex in older people, and nutraceutical strategies could be valuable alternatives. We show here that dietary supplementation with a balanced essential amino acid mixture (BCAAem) increased mitochondrial biogenesis and the endogenous antioxidant response in the hippocampus of middle-aged mice to an extent comparable to those elicited by treadmill exercise training, suggesting BCAAem as an effective exercise mimetic on brain mitochondrial health and disease prevention. In vitro BCAAem treatment directly exerted mitochondrial biogenic effects and induced antioxidant enzyme expression in primary mouse cortical neurons. Further, exposure to BCAAem protected cortical neurons from the ischemic damage induced by an in vitro model of cerebral ischemia (oxygen-glucose deprivation, OGD). BCAAem-mediated protection against OGD was abolished in the presence of rapamycin, Torin-1, or L-NAME, indicating the requirement of both mTOR and eNOS signaling pathways in the BCAAem effects. We propose BCAAem supplementation as an alternative to physical exercise to prevent brain mitochondrial derangements leading to neurodegeneration and as a nutraceutical intervention aiding recovery after cerebral ischemia in conjunction with conventional drugs.

Case report: Personalized adapted motor activity in a COVID-19 patient complicated by critical illness polyneuropathy and myopathy.

Background: COVID-19 may require hospitalization in an intensive care unit (ICU) and is often associated with the onset of critical illness polyneuropathy (CIP) and critical illness myopathy (CIM). Due to the spread of the disease around the world, the identification of new rehabilitation strategies for patients facing this sequence of events is of increasing importance. Case presentation: We report the clinical presentation and the beneficial effects of a prolonged, supervised adapted motor activity (AMA) program in a highly deconditioned 61-year-old male COVID-19 patient discharged from the ICU and complicated by residual CIP and CIM. The program included aerobic, strength, gait, and balance training (1 h, 2 sessions per week). Measures: Pulmonary (spirometry), metabolic (indirect calorimetry and bioimpedance), and neuromuscular functions (electromyography) were evaluated at baseline and after 1 year of training. Results: Relative to baseline, an amelioration of several spirometric parameters such as vital capacity (VC, +40%), total lung capacity (TLC, +25%), and forced expiratory volume in 1 s (FEV1, +28%) was appreciable. Metabolic parameters such as body water (60%-46%), phase angle (3.6°-5.9°), and respiratory quotient (0.92-0.8) returned to the physiological range. Electromyographic parameters were substantially unchanged. The overall amelioration in clinical parameters resulted in a significant improvement of patient autonomy and the quality of life. Conclusion: Our results highlight the importance of AMA for counteracting respiratory, metabolic, and functional but not neuromuscular impairments in COVID-19 patients with residual CIM and CIP.

Strength training in elderly: An useful tool against sarcopenia.

The loss of muscle mass and strength in elderly population (especially after the age of 65-70) represents a public health problem. Due to the high prevalence of frailty in older adults, cardiovascular or low-intensity exercise is implemented as first choice option. Although beneficial these training schemes are not as effective as strength-based resistance training for increasing muscle strength and hypertrophy. In fact, when performed progressively and under professional supervision, strength-based training has been proposed as an important and valid methodology to reduce sarcopenia-related problems. In this mini-review, we not only summarize the benefits of weight resistance training but also highlight practical recommendations and other non-conventional methods (e.g., suspension training) as part of an integral anti-sarcopenia strategy. Future directions including cluster set configurations and high-speed resistance training are also outlined.

Effects of a Single Dose of a Creatine-Based Multi-Ingredient Pre-workout Supplement Compared to Creatine Alone on Performance Fatigability After Resistance Exercise: A Double-Blind Crossover Design Study.

Background: This study aims to investigate the acute effects of a single oral administration of a creatine-based multi-ingredient pre-workout supplement (MIPS) on performance fatigability and maximal force production after a resistance exercise protocol (REP). Methods: Eighteen adult males (age: 23 ± 1 years; body mass: 76.4 ± 1.5 kg; height: 1.77 ± 0.01 m) were enrolled in a randomized, double-blind, crossover design study. Subjects received a single dose of a MIPS (3 g of creatine, 2 g of arginine, 1 g of glutamine, 1 g of taurine, and 800 mg of ß-alanine) or creatine citrate (CC) (3 g of creatine) or a placebo (PLA) in three successive trials 1 week apart. In a randomized order, participants consumed either MIPS, CC, or PLA and performed a REP 2 h later. Before ingestion and immediately after REP, subjects performed isometric contractions of the dominant biceps brachii: two maximal voluntary contractions (MVCs), followed by a 20% MVC for 90 s and a 60% MVC until exhaustion. Surface electromyographic indices of performance fatigability, conduction velocity (CV), and fractal dimension (FD) were obtained from the surface electromyographic signal (sEMG). Time to perform the task (TtT), basal blood lactate (BL), and BL after REP were also measured. Results: Following REP, statistically significant (P < 0.05) pre-post mean for ΔTtT between MIPS (-7.06 s) and PLA (+0.222 s), ΔCV slopes (20% MVC) between MIPS (0.0082%) and PLA (-0.0519%) and for ΔCV slopes (60% MVC) between MIPS (0.199%) and PLA (-0.154%) were found. A pairwise comparison analysis showed no statistically significant differences in other variables between groups and condition vs. condition. Conclusion: After REP, a creatine-enriched MIPS resulted in greater improvement of sEMG descriptors of performance fatigability and TtT compared with PLA. Conversely, no statistically significant differences in outcomes measured were observed between CC and PLA or MIPS and CC.

Bioelectrical Impedance Vector Analysis Discriminates Aerobic Power in Futsal Players: The Role of Body Composition.

Aims: The present study aimed to assess the ability of bioelectrical impedance vector analysis (BIVA) in discriminating fitness levels in futsal players, exploring the association of body composition and bioelectrical parameters with aerobic power. Methods: Forty-eight professional futsal players (age 23.8 ± 5.3 years) were involved in a cross-sectional study during their pre-season phase. Fat mass (FM) and muscle mass were determined by dual-energy X-ray absorptiometry. VO2max was obtained by indirect calorimetry through a graded exercise test performed on a treadmill. Bioelectrical resistance (R), reactance (Xc), and phase angle (PhA) were directly measured using a foot-to-hand bioimpedance technology at a 50 kHz frequency. Bioelectric R and Xc were standardized for the participants' height and used to plot the bioimpedance vector in the R-Xc graph according to the BIVA approach. Results: The participants divided into groups of VO2max limited by tertiles showed significant differences in mean vector position in the R-Xc graph (p < 0.001), where a higher VO2max resulted in a longer vector and upper positioning. FM, muscle mass, and PhA differed (p < 0.01) among the athletes grouped by tertiles of VO2max, where athletes with a greater aerobic power showed a lower percentage of FM and a higher percentage of muscle mass and PhA. FM and PhA were associated with VO2max (FM: r = −0.658, p < 0.001; PhA: r = 0.493, p < 0.001). These relationships remained significant after adjusting for age and body mass (FM: ß = −0.335, p = 0.046; PhA: ß = 0.351, p = 0.003). Conclusions: Bioelectrical impedance vectors positioned on the lower pole of the R-Xc graph identified futsal players with a lower VO2max, while longer vectors corresponded to a greater aerobic power. Additionally, PhA, that describes the vector direction, was positively associated with VO2max, while a higher FM negatively affected VO2max in the futsal players. BIVA and PhA evaluation may represent a valid support for screening the aerobic fitness level in professional futsal players, when more sophisticated assessment methods are not available.

The Ketogenic Diet: Is It an Answer for Sarcopenic Obesity?

This review aims to define the effectiveness of the ketogenic diet (KD) for the management of sarcopenic obesity. As the combination of sarcopenia and obesity appears to have multiple negative metabolic effects, this narrative review discusses the effects of the ketogenic diet as a possible synergic intervention to decrease visceral adipose tissue (VAT) and fatty infiltration of the liver as well as modulate and improve the gut microbiota, inflammation and body composition. The results of this review support the evidence that the KD improves metabolic health and expands adipose tissue γδ T cells that are important for glycaemia control during obesity. The KD is also a therapeutic option for individuals with sarcopenic obesity due to its positive effect on VAT, adipose tissue, cytokines such as blood biochemistry, gut microbiota, and body composition. However, the long-term effect of a KD on these outcomes requires further investigations before general recommendations can be made.

Brain Oxygenation in Post-concussion Combat Sport Athletes.

Purpose: Investigate the feasibility of a non-invasive method to evaluate the physical and cognitive repercussions of long-lasting post-concussion effects in professional combat sports athletes. To help athletes return to professional combat, there is a need for unbiased objective tools and techniques used as a prognostic method of recovery after Sport Related Concussion (SRC). Methods: Six mild Traumatic Brain Injury (mTBI) athletes, age 20 ÷ 43 yr (1 female, 5 males) and 7 not concussed (NC) participants (amateur), age 24 ÷ 38 yr (3 females, 4 males), were tested Inspired/expired gas concentration, Cerebral changes in oxygenated hemoglobin (Δ[HbO2]) and deoxygenated hemoglobin (Δ[HHb]) were measured using near infrared spectroscopy (NIRS) with a 3-step protocol: rest before maximal oxygen uptake (VO2max) test, hypercapnia, and recovery after VO2max test. The brain oxygenation and respiratory parameters of both sample sets were calculated using a non-parametric test (Mann-Whitney U test). Aerobic fitness outcome was quantified through mean average using the Bruce test. Participants performed Fitt's test using a laptop and analysis of medio-lateral and anterior-posterior range of oscillation was carried out via a force platform Romberg test. Results: mTBI group showed statistically significant differences in saturated hemoglobin Δ[HbO2] (p < 0.001) during rest and recovery phase after maximal incremental exercise, in medio-lateral sway eyes open (p = 0.008, NC 25.35 ± 4.11 mm and mTBI 17.65 ± 4.79 mm). VO2max revealed no significant differences between the two groups: NC 47.47 ± 4.91 mTBI 49.58 ± 5.19 ml/kg/min-1. The 2 groups didn't differ for maximum power output (NC 220 ± 34, mTBI 255 ± 50 W). End-tidal fractional concentration of O2 (FetO2 NC15.20 ± 0.41, mTBI 16.09 ± 0.68) throughout hypercapnia, saturated blood hemoglobin (Δ[HbO2]) revealed significant differences with the mTBI group. No differences emerged from Fitt's test. Conclusions: It emerges that NIRS is able to reveal differences in long time outcomes of mTBI. The medio-lateral variations cannot be considered as a marker of long-term damage in athletes specifically trained for balance.

Exercise, Nutrition, and Supplements in the Muscle Carnitine Palmitoyl-Transferase II Deficiency: New Theoretical Bases for Potential Applications.

Carnitine palmitoyltransferase II (CPTII) deficiency is the most frequent inherited disorder regarding muscle fatty acid metabolism, resulting in a reduced mitochondrial long-chain fatty acid oxidation during endurance exercise. This condition leads to a clinical syndrome characterized by muscle fatigue and/or muscle pain with a variable annual frequency of severe rhabdomyolytic episodes. While since the CPTII deficiency discovery remarkable scientific advancements have been reached in genetic analysis, pathophysiology and diagnoses, the same cannot be said for the methods of treatments. The current recommendations remain those of following a carbohydrates-rich diet with a limited fats intake and reducing, even excluding, physical activity, without, however, taking into account the long-term consequences of this approach. Suggestions to use carnitine and medium chain triglycerides remain controversial; conversely, other potential dietary supplements able to sustain muscle metabolism and recovery from exercise have never been taken into consideration. The aim of this review is to clarify biochemical mechanisms related to nutrition and physiological aspects of muscle metabolism related to exercise in order to propose new theoretical bases of treatment which, if properly tested and validated by future trials, could be applied to improve the quality of life of these patients.

Perspective: Practical Approach to Preventing Subclinical B12 Deficiency in Elderly Population.

Vitamin B12 (also known as cobalamin) is an essential water-soluble vitamin that plays a pivotal role for several physiologic functions during one's lifespan. Only certain microorganisms are able to synthetize B12, thus humans obtain cobalamin exclusively from their diet, specifically from animal-derived foods. Specific sub-group populations are at risk of vitamin B12 subclinical deficiency due to different factors including poor intake of animal source foods and age-dependent decrease in the capacity of intestinal B12 uptake. Consumption of animal products produces some negative health issues and negatively impacts sustainability while a plant-based diet increases the risk of B12 deficiency. Taking a cue from the aforementioned considerations, this narrative review aims to summarize facts about B12 deficiency and the burden of inadequate dietary intake in elderly population, as well as to discuss sustainable approaches to vitamin B12 deficiency in aging population.