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Introduction. Asymmetric sports are characterized by a non-symmetric muscular activity of kinetic chains of two hemisoma. The aim of our case-control study is to evaluate the interference of non-symmetric muscular activity on the postural asset. In particular boxe and kick-boxing fighters were evaluated because of their asymmetric guard. Materials and methods. From January to May 2012, 35 subjects were recruited; 15 were playing asymmetric sports (8 boxers and 7 kick-boxers), 10 symmetric sports (5 football players and 5 basket players), 10 no sport. Inclusion criteria were: age between 18 and 35 years, male gender, BMI range 20-25 kg/m², right hand preference, middle- high agonistic level (at least 4 training for week, duration of the session≥ 1 hour), absence of pain or of muscle-skeletal injuries in the last 12 mounths. All subjects underwent clinic and biopostural (including baropodometric static and dynamic examination, stabilometric examination and podoscananalyzer) examination. Results. Our results show that players of asymmetric sports present alterations in weight distribution beetwen the 2 lower limbs (left 44.86%, right 55.14%), an average alteration of the hindfoot/forefoot ratio on the left (hf= 60.54%- ff = 39.49%) and invertion of this ratio on the right (hf= 46.95%- ff= 53.05%) with PMP (pressure maximum points) localized on the right forefoot in the 80% of the patients. Moreover mean values of COF (center of foot) angle (5.6°) show a rotation in an anticlockwise direction of the over-segmentary structures in all the athletes. At stabilometric examination, mean values of ellipse surface were respectively of 71.09 mm² with OE (opened eyes) and of 36.15 mm² with CE (closed eyes). Players of simmetric sports present: weight distribution (left 48.16 – right 51.84%), hindfoot- forefoot ratio on the left (hf=59.1%- ff= 40.9%) and on the right (hf=59.06%- ff=40.94%) with PMP localized on the right forefoot in only the 10% of the patients; moreover mean value of COF angle (0.46°) was normal. At stabilometric examination, mean values of ellipse surface were normal with OE (42.96 mm²) and CE (49.16 mm²). As for those who don’t play any sport: weight distribution (left 49,38%- right 50,62%), hindfoot/forefoot ratio on the left (hf=56.77%- ff 43.23%), on the right (hf=53.78%- ff =46.22%) with PMP localized on the right forefoot in only the 15% of the patients; besides mean value of COF angle was 0.91°. At stabilometric examination, mean values of ellipse surface were normal (respectively of 209.66 mm2 with OE and of 247.08mm2 with CE). Conclusions. Our results seem to confirm the hypothesis that asymmetric sport brings some postural changes such as weight distribuition on the lower limbs, hindfoot/forefoot ratio, COF angle. Moreover in agonistic players (asymmetric and symmetric athletes) the stabilometric examination shows a reduction of ellipse surface with OE compared to CE, suggesting an increase of proprioceptive control on the balance. We took underconsideration the boxe and kickboxing fighters who during the sport practice assume postures that are consisting with our findings; so our results are in agreement with the theory about the plasticity of the tonic-postural system. Bibliography 1. Oyama S, Myers JB, Wassinger CA, Daniel Ricci R, Lephart SM. Asymmetric resting scapular posture in healthy overhead athletes. J Athl Train. 2008 Oct-Dec;43(6):565-70. 2. Leroy D, Polin D, Tourny-Chollet C, Weber J. GRHAL (Research group on gait disorders), CHU Rouen. Spatial and temporal gait variable differences between basketball, swimming and soccer players. Int J Sports Med. 2000 Apr;21(3):158-62. 3. Bressel E, Yonker JC, Kras J, Heath EM. Comparison of static and dynamic balance in female collegiate soccer, basketball, and gymnastics athletes. J Athl Train. 2007 Jan-Mar;42(1):42-6.

Introduction. Hypogonadism is a clinical condition characterized by low levels of testosterone associated with loss of libido, reduced or absent fertility, decrease of bone mass and muscle strength, reduction in the mood with frequent depressive symptoms. An article recently published in Cell has focused the attention on a possible reciprocal regulation gonads-bone, in particular on the regulation of male fertility by bone through the action of osteocalcin. The aim of our study is to evaluate the bone metabolism of patients with hypogonadism, the alterations of body functions and structures related to movement, and any reduction of social participation and consequently in the quality of life. Materials and methods. This observational study was conducted in collaboration with the Department of Clinical and Experimental Medicine of our university. All patients with a diagnosis of hypogonadism, that were sent to our observation, were receiving a pharmacological treatment with testosterone. They underwent a DXA examination, a physical examination including the assessment of muscle strength (MMT scale), presence and intensity of any kind of pain with the Brief Pain Inventory (BPI), disability (Barthel Index), and quality of life with the Short Form -12 (SF-12). Results. Up to date, 15 male patients aged between 17 and 49 years were evaluated; 8 patients were overweight and 1 was obese. Seven patients had a diagnosis of Klinefelter syndrome, 6 Kallmann syndrome, 1 multiple pituitary deficit and 1 a primary hypogonadism after orchiectomy for bilateral testicular cancer. At the DXA examination 4 patients were osteopenic (T-score value between -1 and -2.5). Six patients were practicing a sport. Four patients reported musculoskeletal pain of mild-moderate intensity (BPI range 2.71-4.57), 7 patients had a mild muscle weakness against resistance (MMT = 4/5). No patient had changes in activity and participation (Barthel Index = 100) or of the quality of life. Conclusions. The testosterone replacement therapy in these patients can restore sexual function, lead to an increase of energy, sex drive and sense of wellbeing, but also prevent muscular atrophy and bone loss. Hypogonadism is a clinical syndrome complex which comprises symptoms and signs as well as testosterone deficiency; a multi-dimensional diagnostic evaluation that includes the parameters of the muscular-skeletal metabolism might lead to a more satisfactory therapeutic perspective, and then to a possible improvement of quality of life of these patients. Bibliography 1. Oury,G.Sumara, O.Sumara, M.Ferron, G.Karsenty. Endocrine Regulation of Male Fertility by the Skeleton Cell,Volume144,Issue 5,796-809,17 February 2011. 2. Ware JE Jr., Gandek B. Overwiev of the SF-36 Health Survey and the International Quality of Life Assessment (IQUOLA) Project. J Clin Epidemiol 1998; 51: 903-912. 3. Mahoney FI, Barthel DW (1965) Functional evaluation. The Barthel Index. Md State-Medical J14;61-65.

The post-operative results of a total ankle replacement are not determined solely by an optimal surgical technique, but by an appropriate anesthesiological and rehabilitative post-operative approach. Enhanced functional recovery often depends on a multidisciplinary approach based on a correct framework of the patient and his needs, requests, and characteristics. Extensive bibliographical research has been performed on Pubmed, Google Scholar, Scopus. This comprehensive and inclusive review of the literature aims to examine the state of the art of "fast-track" protocols employed in total ankle replacement (TAR), considering pre-operative preparation, anesthetic management, intraoperative and surgical factors, post-operative rehabilitative care and reduction of hospitalization time.

Background: Postural stability and plantar pressure parameters can be assessed by baropodometry; nevertheless, they are often affected by low repeatability. The aim of the study was to test the accuracy and repeatability of a novel resistive sensor pressure plate and to establish the most reliable baropodometric parameters. Methods: Accuracy and repeatability of the FM12050 BTS-Bioengineering plate measurements were assessed by using different weights in static conditions across three sessions. Subsequently, 20 healthy subjects were assessed by 30-s stabilometric analysis in bipedal standing with open eyes across four trials in two sessions, morning and afternoon. Results: Pressure plate repeatability in measuring the static weights was very high, and plate measurements were correlated to the scale measurements (Pearson’s coefficient = 0.99). Percentage of load distribution between left and right foot and in rearfoot and forefoot regions showed the largest repeatability (coefficient of variation < 5%) across trials. Eventually, median and percentiles (25–75%) were reported for each parameter. Conclusions: This study helped to assess the accuracy and repeatability of a novel pressure plate in static conditions and to define the most reliable parameters for the assessment of postural stability and foot morphology. The present healthy-subject stabilometric dataset may be used as reference data in the evaluation of pathological populations.

Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular spectrum of NF1 and genotype-phenotype correlations in a monocentric study cohort of 85 NF1 patients (20 relatives, 65 sporadic cases). Clinical data were collected at the time of the mutation analysis and reviewed for accuracy in this investigation. An internal phenotypic categorization was applied. The 94% of the patients enrolled showed a severe phenotype with at least one systemic complication and a wide range of associated malignancies. Spine deformities were the most common complications in this cohort. We also reported 66 different NF1 mutations, of which 7 are novel mutations. Correlation analysis identified a slight significant inverse correlation between age at diagnosis and delayed acquisition of psychomotor skills with residual multi-domain cognitive impairment. Odds ratio with 95% confidence interval showed a higher prevalence of learning disabilities in patients carrying frameshift mutations. Overall, our results aim to offer an interesting contribution to studies on the genotype–phenotype of NF1 and in genetic management and counselling.

Background: Hypertension is common in older adults and its incidence increases with age. We investigated the correlation between physical and cognitive impairment in older adults with frailty and hypertension. Methods: We recruited frail hypertensive older adults during the COVID-19 pandemic, between March 2021 and December 2021. Global cognitive function was assessed through the Montreal Cognitive Assessment (MoCA), physical frailty assessment was performed following the Fried criteria, and all patients underwent physical evaluation through 5-meter gait speed test. Results: We enrolled 203 frail hypertensive older adults and we found a significant correlation between MoCA score and gait speed test (r: 0.495; p

Background: Late Onset Pompe Disease (LOPD) is a rare myopathy characterized by prevailing weakness of trunk and pelvic girdle muscles that causes motor disabilities. Spinal deformities have been reported unclearly on clinical examination. No study quantitatively assessed upright posture defining specific alterations of LOPD various phenotype. Objective: Identify postural abnormalities in a homogeneous group of LOPD patients using 3D Stereophotogrammetry (St) and x-Ray (xR). Methods: Seven LOPD siblings were recruited. They were assessed by clinical scales and, in upright posture, using xR and 3D-St with a new marker set protocol. Fourteen healthy individuals, age and sex-matched, were used as controls for St-parameters; normative xR-values were found in literature. Results: LOPD patients showed a significant weakness of trunk and tibialis anterior muscles. Statistical analysis of St-parameters showed a larger ankle, knee, elbow, dorsal, S2-C7, heel-S2-C7, heel-S2-nasion angles and a lower sagittal vertical axis (SVA) than controls. xR-analysis highlighted an absence of scoliosis and a lower occipito-cervical, C2-C7 cervical and Cobb dorsal angles, and a trend to lower lumbar lordosis and SVA compared to normal values. Significant correlation was found in dorsal and lumbar angles calculated using xR-markers placed on spiny apophysis, xR-centre of vertebral bodies, Cobb-method and St-markers. Conclusion: This is the first quantitative study of postural abnormalities in LOPD patients using 3D-St and xR, highlighting sagittal standing alignment changes, difficult to assess to direct exam.Our new St-protocol showed a high reliability compared to xR. Further studies on larger population of LOPD might confirm the usefulness of these instrumental methods for monitoring disease course.

Nociplastic pain has been introduced by the IASP as a third category of pain, distinct from nociceptive and neuropathic pain. Pathogenetically, it is considered to be a continuum of these two types of pain after becoming chronic. Repetitive peripheral painful stimulation causes a central sensitization with hypersensitivity of the corresponding spinal metamer or brain region. Therefore, signs of altered nociception, such as allodynia, may be found on the tissues of the related dermatome, myotome and sclerotome, and characterize nociplastic pain. This kind of pain was found in over 20% of people with multiple sclerosis (pwMS), a demyelinating autoimmune disease that affects the central nervous system. Nociplastic pain may be an amplifier of spasticity, the main pyramidal symptom that affects about 80% of pwMS. This article details the case of a 36-year-old woman with multiple sclerosis who was affected by spasticity and non-specific pain of the lower limbs, disabling on walking. Previous analgesic and muscle relaxant treatment had no benefits. The diagnosis of nociplastic pain on the cutaneous tissue of the anterolateral region of the left thigh and its treatment with intradermal normal saline injection on the painful skin area showed immediate and lasting effects on pain and spasticity, improving significantly the patient’s balance and walking, as assessed by a 3D motion analysis and rating scales.

Muscle injuries are the most common trauma in team and individual sports. The muscles most frequently affected are those of the lower limb, and in particular hamstrings, adductors, rectus femoris and calf muscles. Although several scientific studies have tried to propose different rehabilitation protocols, still too often the real rehabilitation process is not based on scientific knowledge, especially in non-elite athletes. Moreover, the growing use of physical and instrumental therapies has made it increasingly difficult to understand what can be truly effective. Therefore, the aim of the present paper is to review proposed therapeutic algorithms for muscle injuries, proposing a concise and practical summary. Following a three-phase rehabilitation protocol, this review aims to describe the conservative treatment of indirect structural muscle injuries, which are the more routinely found and more challenging type. For each phase, until return to training and return to sport are completed, the functional goal, the most appropriate practitioner, and the best possible treatment according to current evidence are expressed. Finally, the last section is focused on the specific exercise rehabilitation for the four main muscle groups with a structured explanatory timetable.

Background Spasticity in people with Multiple Sclerosis (pwMS) is one of the most disabling symptoms on walking ability and balance. Among the systemic antispastic drugs, Nabiximols showed a good tolerability, safety profile and relevant efficacy. A few studies assessed long-term effects of this drug through clinical scales and instrumental tools, but no study investigated short-term effects. The aim of our study is to quantitatively evaluate the immediate effects of Nabiximols on walking and balance and their maintenance after 4 weeks in pwMS and spasticity. Methods pwMS were enrolled and randomized in 2 treatment groups: Sativex (SG) and control (CG) group. All patients were assessed at T0 (before the first Sativex puff), T1(after 45 minutes) and T2 (after 4 weeks of treatment) using clinical scales and 3d-Gait Analysis . Then, the patients treated with Sativex, were divided into 5 subgroups according to Numeric Rating Scale for spasticity (NRSs) and Berg Balance Score (BBS) response: NRSs responder[1] and non-[2]; BBS responders[3] and non-[4]; NRSs-BBS responders[5]. Results 32 pwMS (22 SG, 10 CG) were recruited. Significant improvements were found between T0 and T1 in SG compared to CG in a few clinical and kinematic parameters. Larger significant differences were found for NRSs and BBS responders’ groups versus CG. Eventually, no significant differences were found comparing the results between T1 and T2, suggesting the persistence of the improvements emerged at T1. Conclusion These results quantitatively demonstrated a short time effect of Nabiximols on balance and walking of pwMS, which is mantained after 4 weeks. Patients identified as responder by combination of NRSs and BBS showed the best efficacy. These findings may suggest how to early select the real responders in order to improve the adherence and cost-effectiveness of the therapy.

Background: Autophagic Vacuolar Myopathies (AVMs) are an emerging group of heterogeneous myopathies sharing histopathological features on muscle pathology, in which autophagic vacuoles are the pathognomonic morphologic hallmarks. Glycogen storage disease type II (GSDII) caused by lysosomal acid α-glucosidase (GAA) deficiency, is the best-characterized AVM. Aims: This study aimed to investigate the mutational profiling of seven neuromuscular outpatients sharing clinical, myopathological and biochemical findings with AVMs. Methods: We applied a diagnostic protocol, recently published by our research group for suspected late onset GSDII (LO-GSDII), including counting PAS-positive lymphocytes on blood smears, dried blood spot (DBS)-GAA, muscle biopsy histological and immunofluorescence studies, GAA activity assay and expression studies on muscle homogenate, GAA sequencing, GAA multiplex ligation-dependent probe amplification (MLPA) and whole exome sequencing (WES). Results: The patients had a limb girdle-like muscular pattern with persistent hyperCKaemia; vacuolated PAS-positive lymphocytes, glycogen accumulation and impaired autophagy at muscle biopsy. Decreased GAA activity was also measured. While GAA sequencing identified no pathogenic mutations, WES approach allowed us to identify for each patient an unexpected mutational pattern in genes cooperating in lysosomal-autophagic machinery, some of which have never been linked to human diseases. Conclusions: Our data suggest that reduced GAA activity may occur in any condition of impaired autophagy and that WES approach is advisable in all genetically undefined cases of autophagic myopathy. Therefore, deficiency of GAA activity and PAS-positive lymphocytes should be considered as AVM markers together with LC3/p62-positive autophagic vacuoles.

Hoverboards are always more popular among children. Hoverboards are to them like a game or a mean of transport, but they could be used as a valid and useful instrument in children’s training programs to improve their performance. In this study, we compared the athletic performance of two groups of 12 children. A total of 24 children aged between 8 and 11 years followed a similar training program for five months, but the first group used a hoverboard (Hb+ group: Age: Standard Deviation (SD) = 1.15 Mean = 9.66; Weight: SD = 5.90 Mean = 32; Height: SD = 7.64 Mean = 135.08) for some of the training time, differently from the second group (Hb- group: Age: SD = 1.15 Mean = 9.66; Weight: SD = 5.82 Mean = 31.16; Height: SD = 7.66 Mean = 136.16), which never used it. All of the children were asked to complete three tests (one leg test, stork test and balance beam walking test) before starting their own training program and after five months, to evaluate how their performances changed in terms of time. Comparing the recorded time difference between T0 and T1 of the Hb+ group with the same difference measured in Hb- group, it was found that there was a statistically significant difference (p value < 0.05) between these data for all three tests. Children who used the hoverboard in their training program achieved better result than children who did not use it. In the future, the hoverboard could help athletes to improve their performances, possibly applying it not only in football training, but even in other sports.

Paramyotonia congenita (PC) is a neuromuscular disorder caused by point mutations of the sodium channel gene SCN4A that leads to gating defects in the sodium channel of the muscle membranes, thus resulting in a persistent sodium influx into the sarcoplasma. Classic PC phenotype is characterised by episodes of cold-induced stiffness, prominently in the facial and upper limb muscles, exacerbated by a sustained muscular activity (paramyotonia) and followed by a variable degree of weakness. Electromyography (EMG) at rest discloses myotonic bursts and reduced Compound Muscle Action Potential (CMAP) amplitudes, while short-term forearm exercise and cooling tests induce further decrease resulting in electrical silence in some patients. Muscle paralysis, after paramyotonic attacks, may last from a few dozen minutes to 24–48 hours, thus reducing considerable quality of life and autonomy in daily activities. Among voltage-gating sodium channel blockers, mexiletine is considered the drug of choice in PC and other sodium channel myopathies.1 However, mexiletine efficacy has been investigated only in a few heterogeneous small PC series during a month-lasting follow-up. In experimental studies, flecainide, a class IC antiarrhythmic drug, appeared to be more effective than mexiletine to counteract SCN4A dysfunction.2 However, we lack long-term follow-up studies on flecainide efficiency in patients with PC with homogeneous pheno/genotype. The aim of this study was to assess the responsiveness to flecainide in a large family with classic PC phenotype by electrophysiological and quality of life evaluations. The Italian PC family pedigree includes 60 …

Late onset Pompe disease (LOPD) is characterized by significant motor disabilities, which affect in particular ambulation. Only one study reports on spatial-temporal parameters of gait assessed in a clinical heterogeneous group of unrelated patients. In this study spatiotemporal and kinematic gait patterns are described in a genetically homogenous group of LOPD patients using 3d movement analysis. 7 LOPD siblings, harbouring the same GAA mutations compound, were assessed with clinical scales and with 3d movement analysis to measure spatial-temporal and kinematic parameters during gait cycle and “sit to stand test”. Relevant abnormalities were observed either in spatial-temporal and kinematic parameters. The former consisted in a trend towards a decreased velocity and cadence, a prolonged time in double limb support, shorter step and stride length, and a widening of base of support; the latter in an increased anterior pelvic-tilt and posterior trunk-tilt during the whole gait cycle, a decreased pelvic obliquity, active hip extension and ankle dorsiflexion. This study shows, in homogenous group of LOPD patients, either spatial-temporal and kinematic deviations that may improve understanding of the musculoskeletal alterations, the evolution of disease and the answer to the enzyme replacement therapy.