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Background: Postural stability is maintained by the Postural Control System (PCS), consisting of anatomical structures of Central Nervous System and peripheral receptors, interacting with each other, in order to keep whole-body balance by modulating the myofascial chains against gravity. The vision is one of the most important peripheral receptors for postural control. Previous studies analyzed the changes of body sway during viewing nearby (VNT) and distant (VDT) targets in healthy population without considering the feet adaptations related to the body weight distribution. Aim of this study was to investigate how different distances of viewing target affect the variability of postural stability and plantar pressure parameters in healthy subjects. Methods: 31 stabilometric and plantar pressure parameters were acquired in 20 young healthy subjects by baropodometry performed in bipedal standing during VNT and VDT (0.70 m and 3 m from the heels, respectively). Variability and statistical differences between VDT and VNT were implemented. Results: Results showed the highest repeatability for plantar pressure parameters, a slightly high for CP speed and a lowest for CoPsa and Length Surface Function during both VNT and VDT. Moreover, a significant increase of load percentage on left-foot and right-Forefoot, of mean and maximum pressures on left-Forefoot, of CoPsa and CPspeed and a decrease of LSF were found during VDT. Discussion: This study revealed how a greater distance of viewing target affects body-weight distribution and increases body oscillations. These findings highlighted the importance of visual target distance for the correct interpretation of postural stability and plantar pressure parameters, and the need to standardize target distance during stabilometric exam.

Introduction: The “postural control system” acts through biomechanical strategies and functional neuromuscular adaptations to maintain body balance under static and dynamic conditions. Postural stability and body weight distribution can be affected by external sensory inputs, such as different visual stimuli. Little information is available about the influence of visual receptors on stabilometric and plantar pressure parameters. The aim of this study was to analyze variability, correlations, and changes in these parameters under open- (OE) and closed-eye (CE) conditions.Methods: A total of 31 stabilometric and plantar pressure parameters were acquired in 20 young and healthy adults during baropodometric examination performed in bipedal standing under both visual conditions. Variability of parameters was evaluated via the coefficient of variation, correlation analysis via Pearson’s R2, and statistical differences via the Wilcoxon test.Results: High intra-subject repeatability was found for all plantar pressure parameters and CoP-speed (CV < 40%) under OE and CE conditions, while CoP-sway area (CoPsa) and length surface function (LSF) showed larger variability (CV > 50%). Mean and peak pressures at midfoot and total foot loads showed the least number of significant correlations with other parameters under both visual conditions, whereas the arch-index and rearfoot loads showed the largest number of significant correlations. The limb side significantly affected most plantar pressure parameters. A trend of larger LSF and lower CoPsa and mean and peak pressures at the right forefoot was found under the CE condition.Discussion: The present study provides a deeper insight into the associations between postural stability and foot load. Interesting postural adaptations, particularly with respect to different visual stimuli, the effect of the dominant side, and the specific role of the midfoot in balance control were highlighted.

Acinetobacter baumannii (AB) poses a significant threat to critically ill patients in intensive care units (ICUs). Although an association between antibiotic exposure and resistant AB is reported in the literature, a synthesis of evidence in ICU patients is still lacking. To summarize the evidence on the association between prior antibiotic exposure and the occurrence of resistant AB in ICU patients. Online databases were searched for cohort and case–control studies providing data on the association of interest. Carbapenem/multidrug-resistant AB isolation was compared with non-isolation; carbapenem/multidrug-resistant AB was compared with carbapenem/antibiotic-susceptible AB; and extensively drug-resistant AB isolation was compared with non-isolation. Each comparison was subjected to a restricted maximum likelihood random-effects meta-analysis per antibiotic class, estimating pooled ORs. Stratified meta-analyses were performed by study design, outcome type and association-measure adjustment. Overall, 25 high-quality studies were retrieved. Meta-analyses showed that carbapenem/multidrug-resistant AB isolation was associated with previous exposure to aminoglycosides, carbapenems, third-generation cephalosporines, glycylcyclines, and nitroimidazoles. Increased risk of isolation of carbapenem/multidrug-resistant AB isolation vs carbapenem/antibiotic-susceptible AB was shown for prior exposure to aminoglycosides, antipseudomonal penicillins, carbapenems, fluoroquinolones, glycopeptides, and penicillins. Third-generation cephalosporin exposure increased the risk of extensively drug-resistant AB isolation vs non-isolation. This systematic review clarifies the role of antibiotic use in antibiotic-resistant AB spread in ICUs, although for some antibiotic classes the evidence is still uncertain due to the small number of adjusted analyses, methodological and reporting issues, and limited number of studies. Future studies need to be carried out with standardized methods and appropriate reporting of multivariable models. [ABSTRACT FROM AUTHOR]

GATA3 plays critical roles in the development and function of various tissues and organs throughout the body. Likewise, TGF-β signaling is critical for placental development and can interact with GATA3. We aimed to investigate the involvement of the multifunctional cytokine and transcription factor in trophoblast development. By using immunohistochemistry, we evaluated the localization and expression level of GATA3 and TGF-β in placentas at term of normal pregnancy and with pre-eclampsia. Up-regulation of both GATA3 and TGF-β was observed in pathological placentas, with localization in the villus epithelium (syncytiotrophoblast) stroma and decidua. Our data show altered expression of TGF-β and GATA3, which downstream could lead to a cascade of events that negatively influence trophoblast development and contribute to the pathogenesis of pre-eclampsia. • GATA3 is involved in placental development, regulating expression of genes crucial for trophoblast invasion/differentiation. • Dysregulation of GATA3 expression/function can lead to placental defects and pregnancy complications such as pre-eclampsia. • The interplay between GATA3 and TGF-β is crucial in understanding placental development and disorders like pre-eclampsia. • Both GATA3 and TGF-β show increased expression in pre-eclampsia placentas compared to normal ones. • Their interaction may modulate processes like trophoblast EMT cells, impacting trophoblast invasion and placental function. [ABSTRACT FROM AUTHOR]

• Nabiximols induces immediate effects on balance and walking in pwSM and spasticity. • Early improvements after the first intake were unchanged after 4 weeks of treatment. • 3D-gait analysis highlighted significant improvements mostly in NRSs-BBS responders. • Immediate NRSs-BBS response could be useful to early identify Sativex responders. 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. 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]. 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. 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. [ABSTRACT FROM AUTHOR]

Executive functions (EFs) are neurocognitive processes planning and regulating daily life actions. Performance of two simultaneous tasks, requiring the same cognitive resources, lead to a cognitive fatigue. Several studies investigated cognitive-motor task and the interference during walking, highlighting an increasing risk of falls especially in elderly and people with neurological diseases. A few studies instrumentally explored relationship between activation-no-activation of two EFs (working memory and inhibition) and spatial-temporal gait parameters. Aim of our study was to detect activation of inhibition and working memory during progressive difficulty levels of cognitive tasks and spontaneous walking using, respectively, wireless electroencephalography (EEG) and 3D-gait analysis. Thirteen healthy subjects were recruited. Two cognitive tasks were performed, activating inhibition (Go-NoGo) and working memory (N-back). EEG features (absolute and relative power in different bands) and kinematic parameters (7 spatial-temporal ones and Gait Variable Score for 9 range of motion of lower limbs) were analyzed. A significant decrease of stride length and an increase of external-rotation of foot progression were found during dual task with Go-NoGo. Moreover, a significant correlation was found between the relative power in the delta band at channels Fz, C4 and progressive difficulty levels of Go-NoGo (activating inhibition) during walking, whereas working memory showed no correlation. This study reinforces the hypothesis of the prevalent involvement of inhibition with respect to working memory during dual task walking and reveals specific kinematic adaptations. The foundations for EEG-based monitoring of cognitive processes involved in gait are laid. Clinical and Translational Impact Statement: Clinical and instrumental evaluation and training of executive functions (as inhibition), during cognitive-motor task, could be useful for rehabilitation treatment of gait disorder in elderly and people with neurological disease., (© 2023 The Authors.)

Internally rotated and adducted shoulder is a common posture in upper limb spasticity. Selective peripheral neurectomy is a useful and viable surgical technique to ameliorate spasticity, and the lateral pectoral nerve (LPN) could be a potential good target to manage shoulder spasticity presenting with internal rotation. However, there are some limitations related to this procedure, such as potential anatomical variability and the necessity of intraoperative surgical exploration to identify the target nerve requiring wide surgical incisions. This could result in higher post-surgical discomfort for the patient. Therefore, the aim of our study was to describe a modification of the traditional selective peripheral neurectomy procedure of the LPN through the perioperative ultrasound-guided marking of the target nerve with methylene blue. The details of the localization and marking procedure are described, as well as the surgical technique of peripheral selective neurectomy and the potential advantages in terms of nerve localization, surgical precision and patients' post-surgical discomfort. We suggest that the proposed modified procedure could be a valid technique to address some current limitations and move the surgical treatment of spasticity toward increasingly tailored management due to the ease of nerve identification, the possibility of handling potential anatomical variability and the resulting smaller surgical incisions.

Late-onset Pompe disease (LOPD) is characterized by postural abnormalities mainly due to involvement of paraspinal lumbar and abdominal-pelvic muscles. Previous studies quantitatively analyzed static upright posture, spatial-temporal parameters, and kinematics of the lower limbs and trunk, considered as single bone segment. Sagittal plane analysis of the spine and whole body during walking has never been investigated in patients with LOPD. The aim of the study was to evaluate sagittal kinematics and imbalance of the spine and whole body in patients with LOPD by three-dimensional (3-D)-motion analysis using an appropriate marker set protocol and introducing innovative kinematic parameters. Seven siblings with LOPD were assessed by 3-D-stereophotogrammetry using the DB-total protocol, which allows to analyze sagittal alignment of whole body. Fourteen age- and sex-matched healthy subjects were used as controls. LOPD group showed a flattening of the spinal curvatures, with a head and neck posteriorization with respect to sacrum, a significant increase of concavity in Heel-S2-Nasion/C7 angles, a rear-position of upper limbs with respect to pelvis, a shorter pendular activity, and a trend of elbow extension during ambulation. Moreover, a significant increase of excursion range in most of sagittal parameters was found. The present study highlighted a specific pathological postural pattern, resembling "man falling backwards," which reveals a biomechanical compensation strategy of patients with LOPD to maintain the balance against the instability of the spinopelvic region, kinematically verified by increase of the excursion ranges. DB-total kinematic parameters might be useful for functional evaluation and for monitoring response to enzyme replacement therapy, rehabilitation project, and disease progression. NEW & NOTEWORTHY This study is the first to quantitatively characterize the sagittal spine and whole body posture of patients with late-onset Pompe disease during walking, showing a pathological kinematic pattern defined "man falling backwards." 3-D-motion analysis, with a specific marker set (DB-total protocol) introducing new whole body kinematic parameters, may be useful for accurate functional evaluation and monitoring this rare disease.

Background: Foot drop (FD) is characterized by an inability to lift the foot against gravity because of dorsiflexor muscle weakness. The aim of the present study is to report a clinical case of acute non-traumatic FD in patients with peroneal intraneural ganglion, after performing a scoping review on the methodological management of this disease., Methods: We performed a review of the literature and reported the case of a 49-year-old man with acute FD caused by an intraneural ganglion cyst of the peroneal nerve., Results: Out of a total of 201 articles, 3 were suitable for our review beyond our case report. The acute FD caused by peroneal intraneural ganglion can be managed by a careful clinical-instrumental differential diagnosis. A targeted surgery with subsequent rehabilitation produced a satisfactory motor recovery., Conclusions: Acute FD requires an appropriate diagnostic-therapeutic framework to identify and effectively treat the causes in order to promote complete recovery.

Spasticity is a well-known motor dysfunction occurring after a stroke. A group of Italian physicians' experts in treating post-stroke spasticity (PSS) reviewed the current scientific evidence concerning the state-of-the-art clinical management of PSS management and the appropriate use of botulinum toxin, aiming to identify issues, possible actions, and effective management of the patient affected by spasticity. The participants were clinicians specifically selected to cover the range of multidisciplinary clinical and research expertise needed to diagnose and manage PSS. When evidence was not available, the panel discussed and agreed on the best way to manage and treat PSS. To address the barriers identified, the panel provides a series of consensus recommendations. This systematic review provides a focused guide in the evaluation and management of patients with PSS and its complications. The recommendations reached by this panel of experts should be used by less-experienced doctors in real life and should be used as a guide on how to best use botulinum toxin injection in treating spasticity after a stroke.

During pregnancy, SARS-CoV-2 infection is associated with several adverse outcomes, including an increased risk of pre-eclampsia, preterm delivery, hypertensive disorders, gestational diabetes, and fetal growth restriction related to the development of placenta vascular abnormalities. We analyzed human placenta from full-term, uncomplicated pregnancies with SARS-CoV-2 infection during the first, second, or third trimesters of gestation. We studied, by the immunohistochemistry technique, the expression of CD34 and podoplanin (PDPN) as markers of vasculogenesis to find any differences. As secondary outcomes, we correlated maternal symptoms with placental histological alterations, including fibrin deposits, lymphocyte infiltration in the villi, edema, and thrombi. Our results showed a PDPN expression around the villous stroma as a plexiform network around the villous nucleus of fetal vessels; significant down-regulation was observed in the villous stroma of women infected during the third trimester. CD34 showed no changes in expression levels. During SARS-CoV-2 infection, the most common maternal symptoms were fever, anosmia, ageusia and asthenia, and the majority were treated with paracetamol, corticosteroids and azithromycin. Patients that required multiple symptomatic treatments evidenced a large amount of fibrin deposition in the villi. Certainly, PDPN plays a key role in healthy placental vasculogenesis and thus in its proper physiology, and SARS-CoV-2 surely alters its normal expression. Further studies are necessary to understand what mechanisms are being altered to try to avoid possible complications for both the mother and fetus in terms of the contagions that will still occur.

Nutraceuticals have for several years aroused the interest of researchers for their countless properties, including the management of viral infections. In the context of the COVID-19 pandemic, studies and research on the antiviral properties of nutraceuticals have greatly increased. More specifically, over the past two years, researchers have focused on analyzing the possible role of nutraceuticals in reducing the risk of SARS-CoV-2 infection or mitigating the symptoms of COVID-19. Among nutraceuticals, turmeric, extracted from the rhizome of the Curcuma Longa plant, and spirulina, commercial name of the cyanobacterium Arthrospira platensis , have assumed considerable importance in recent years. The purpose of this review is to collect, through a search of the most recent articles on Pubmed, the scientific evidence on the role of these two compounds in the fight against COVID-19. In the last two years many hypotheses, some confirmed by clinical and experimental studies, have been made on the possible use of turmeric against COVID-19, while on spirulina and its possible role against SARS-CoV-2 infection information is much less. The demonstrated antiviral properties of spirulina and the fact that these cyanobacteria may modulate or modify some mechanisms also involved in the onset of COVID-19, lead us to think that it may have the same importance as curcumin in fighting this disease and to speculate on the possible combined use of these two substances to obtain a synergistic effect.

Background: Nutcracker syndrome (NCS) is caused by extrinsic compression of the left renal vein (LRV), usually between the abdominal aorta (AA) and superior mesenteric artery (SMA). This rare disease includes symptoms such as hematuria, left flank pain or abdominal pain, varicocele in males, proteinuria, anemia, gynecological symptoms (dyspareunia, dysmenorrhea). Case report: We report the case of a 48-year-old female patient, who experienced left abdominal colic after intensive physical exercise, finally resulting in a diagnosis of NCS. This abdominal pain was disabling for daily activities, it was controlled by analgesic drugs and led to hospital admissions. In-depth examinations were recommended to the patient to investigate the etiology of these attacks. A bad rotated and ectopic left kidney, which was located superior to the spleen, at the level of the left hemithorax base, was found due to the presence of a diaphragmatic relaxation in the posterior area, which caused an upward displacement of the kidney, part of the colon and omental fat. Because of the presence of a compression of the LRV by the SMA and the AA, the nephrologist diagnosed a NCS, presenting with abdominal pain following physical exercise, proteinuria and dysmenorrhea. Conservative treatment was chosen for the patient. Conclusions: The patient was recommended to engage in a moderate and regular physical activity, avoiding acute and intense exercise: hypopressive abdominal gymnastics was suggested. The role of physical exercise in triggering painful attacks and its role in rehabilitation to prevent the same attacks was crucial for the patient., (Copyright by Società Italiana di Nefrologia SIN, Rome, Italy.)

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., Competing Interests: Declaration of Competing Interest The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (Copyright © 2022 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.)

Tumor diseases are unfortunately quick spreading, even though numerous studies are under way to improve early diagnosis and targeted treatments that take into account both the different characteristics associated with the various tumor types and the conditions of individual patients. In recent years, studies have focused on the role of ion channels in tumor development, as these proteins are involved in several cellular processes relevant to neoplastic transformation. Among all ion channels, many studies have focused on the superfamily of Transient Receptor Potential (TRP) channels, which are non-selective cation channels mediating extracellular Ca 2+ influx. In this review, we examined the role of different endothelial TRP channel isoforms in tumor vessel formation, a process that is essential in tumor growth and metastasis.

Total ankle prosthesis as a surgical solution in the case of end-stage osteoarthritis has seen a considerable increase in the last two decades. This study protocol arises from the need to understand the in vivo kinematics of mobile-bearing, flat tibial component total ankle replacement, evaluating the real range of motion and the reciprocal relationships between the components during normal motor tasks through the use of model-based radio-stereometric analysis (MB-RSA). In addition, pre- and post-operative evaluation of walking kinematics with inertial motion sensors, proprioception through a dedicated workstation, and clinical outcomes are discussed. We expect that based on our study protocol researchers will be able to improve future prosthetic designs and validate the setup of MB-RSA, as well as to understand "how an ankle prosthesis moves" once implanted in the patient.

Posture can be evaluated by clinical and instrumental methods. Three-dimensional motion analysis is the gold standard for the static and dynamic postural assessment. Conventional stereophotogrammetric protocols are used to assess the posture of pelvis, hip, knee, ankle, trunk (considered as a single segment) and rarely head and upper limbs during walking. A few studies also analyzed the multi-segmental trunk and whole-body kinematics. Aim of our study was to evaluate the sagittal spine and the whole-body during walking in healthy subjects by 3D motion analysis using a new marker set. Fourteen healthy subjects were assessed by 3D-Stereophotogrammetry using the DB-Total protocol. Excursion Range, Absolute Excursion Range, Average, intra-subject Coefficient of Variation (CV) and inter-subject Standard Deviation Average (SD Average) of eighteen new kinematic parameters related to sagittal spine and whole-body posture were calculated. The analysis of the DB-Total parameters showed a high intra-subject (CV < 50%) and a high inter-subject (SD Average < 1) repeatability for the most of them. Kinematic curves and new additional values were reported. The present study introduced new postural values characterizing the sagittal spinal and whole-body alignment of healthy subjects during walking. DB-Total parameters may be useful for understanding multi-segmental body biomechanics and as a benchmark for pathological patterns.

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.

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<0.001) in our population. To evaluate the impact of comorbidities and other factors on our results, we applied a linear regression analysis with MoCA score as a dependent variable, observing a significant association with age, diabetes, chronic obstructive pulmonary disease (COPD), and gait speed test., Conclusions: Our study revealed for the first time a significant correlation between physical and cognitive impairment in frail hypertensive elderly subjects., (Copyright © 2022. Published by Elsevier B.V.)

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.

Background: Asymmetrical posture maintained over long training periods may affect phenotypic plasticity, resulting functional to sporting goal but negative to the locomotor system. Aim of this study was to quantitatively evaluate these long-term effects in competitive boxers., Methods: Baropodometric analysis was used to assess 20 competitive boxers and 20 non-sportsmen in upright bipedal posture for 5 s and for 51.2 s with open (OE) and closed (CE) eyes., Results: The boxers' group (BOX) showed a larger total foot load (TFL) (p=0.022) on the right foot and a larger rearfoot load (RfL) (P=0.011) on the left foot compared to non-sport controls (CTR). Moreover, a larger forefoot load (FfL) (P=0.001) on the right foot respect to left one was found in the BOX group, with the inversion of the RfL to FfL ratio (P=0.001) between two feet, while no significant differences were found in the CTR group. These findings, associated to a significantly larger center of foot angle (COF) in the BOX group, may indicate an anticlockwise rotation of the anatomical structures above the ankle joint of the right hemisoma respect to the left one, that appears to be consistent with the orthodox stance. Eventually, the BOX group showed a larger centre-of-pressure sway area (COPsa) in the OE condition than what measured in the CE and a significant difference in Romberg Index (BOX< CTR)., Conclusions: The results of this study seem to confirm the theory of neuromuscular plasticity imprinted by the repetitive movements and long-lasting postures. Moreover, competitive boxers show an increase of proprioceptive function and a decrease of visual dependence on the postural control.

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: 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-characterised 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., (© 2021 British Neuropathological Society.)

Pompe disease is an autosomal recessive disorder caused by a deficiency in the enzyme acid alpha-glucosidase. The late-onset form of Pompe disease (LOPD) is characterized by a slowly progressing proximal muscle weakness, often involving respiratory muscles. In LOPD, the levels of GAA enzyme activity and the severity of the clinical pictures may be highly variable among individuals, even in those who harbour the same combination of GAA mutations. The result is an unpredictable genotype-phenotype correlation. The purpose of this study was to identify the genetic factors responsible for the progression, severity and drug response in LOPD. We report here on a detailed clinical, morphological and genetic study, including a whole exome sequencing (WES) analysis of 11 adult LOPD siblings belonging to two Italian families carrying compound heterozygous GAA mutations. We disclosed a heterogeneous pattern of myopathic impairment, associated, among others, with cardiac defects, intracranial vessels abnormality, osteoporosis, vitamin D deficiency, obesity and adverse response to enzyme replacement therapy (ERT). We identified deleterious variants in the genes involved in autophagy, immunity and bone metabolism, which contributed to the severity of the clinical symptoms observed in the LOPD patients. This study emphasizes the multisystem nature of LOPD and highlights the polygenic nature of the complex phenotype disclosed in these patients.

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.