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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.

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--10mWT), 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. [ABSTRACT FROM AUTHOR]

Abstract Background Frailty is a clinical condition among older adults defined as the loss of resources in one or more domains (i.e., physical, psychological and social domains) of individual functioning. In frail subjects emergency situations and mobility levels need to be carefully monitored. This study aimed to: i) evaluate differences in the mobility index (MI) provided by ADAMO system, an innovative remote monitoring device for older adults; ii) compare the association of the MI and a traditional physical measure with frailty. Methods Twenty-five community-dwelling older adults (71 ± 6 years; 60% women) wore ADAMO continuously for a week. The time percentage spent in Low, Moderate and Vigorous Activities was assessed using ADAMO system. Walking ability and frailty were measured using the 400 m walk test and the Tilburg Frailty Indicator, respectively. Results Controlling for age and gender, the ANCOVA showed that frail and robust participants were different for Low (frail = 58.8%, robust = 42.0%, p

Background & aims: Obeticholic acid (OCA) is the second-line treatment approved for patients with primary biliary cholangitis (PBC) and an inadequate response or intolerance to ursodeoxycholic acid. We aimed to evaluate the effectiveness and safety of OCA under real-world conditions. Methods: Patients were recruited into the Italian PBC Registry, a multicentre, observational cohort study that monitors patients with PBC at national level. The primary endpoint was the biochemical response according to Poise criteria; the secondary endpoint was the biochemical response according to normal range criteria, defined as normal levels of bilirubin, alkaline phosphatase (ALP), and alanine aminotransferase (ALT) at 12 months. Safety and tolerability were also assessed. Results: We analysed 191 patients until at least 12 months of follow-up. Median age was 57 years, 94% female, 61 (32%) had cirrhosis, 28 (15%) had histologically proven overlap with autoimmune hepatitis (PBC-AIH). At 12 months, significant median reductions of ALP (-32.3%), ALT (-31.4%), and bilirubin (-11.2%) were observed. Response rates were 42.9% according to Poise criteria, and 11% by normal range criteria. Patients with cirrhosis had lower response than patients without cirrhosis (29.5% vs. 49.2%, p = 0.01), owing to a higher rate of OCA discontinuation (30% vs. 12%, p = 0.004), although with similar ALP reduction (29.4% vs. 34%, p = 0.53). Overlap PBC-AIH had a similar response to pure PBC (46.4% vs. 42.3%, p = 0.68), with higher ALT reduction at 6 months (-38% vs. -29%, p = 0.04). Thirty-three patients (17%) prematurely discontinued OCA because of adverse events, of whom 11 experienced serious adverse events. Treatment-induced pruritus was the leading cause of OCA discontinuation (67%). Conclusions: Effectiveness and safety of OCA under real-world conditions mirror those in the Poise trial. Patients with cirrhosis had lower tolerability. Overlap PBC-AIH showed higher ALT reduction at 6 months compared with patients with pure PBC. Lay summary: Obeticholic acid (OCA) was shown to be effective in more than one-third of patients not responding to ursodeoxycholic acid in a real-world context in Italy. Patients with cirrhosis had more side effects with OCA, and this led to suspension of the drug in one-third of patients. OCA was also effective in patients who had overlap between autoimmune hepatitis and primary biliary cholangitis.

We investigate the similarities between two of the most challenging and complex systems in Nature: the network of neuronal cells in the human brain, and the cosmic network of galaxies. We explore the structural, morphological, network properties and the memory capacity of these two fascinating systems, with a quantitative approach. In order to have an homogeneous analysis of both systems, our procedure does not consider the true neural connectivity but an approximation of it, based on simple proximity. The tantalizing degree of similarity that our analysis exposes seems to suggest that the self-organization of both complex systems is likely being shaped by similar principles of network dynamics, despite the radically different scales and processes at play.

Abstract Background The purpose of this descriptive, epidemiological study is to classify injury patterns and determine dynamics of injuries, possible causes and preventive measures. Methods A questionnaire was filled in by 127 kite buggying enthusiasts in 17 countries. Injuries were classified by type and anatomical site. Incident causes were analysed using the Haddon matrix. Results Injuries classified as moderate or severe (AIS score ≥ 2) were sustained by 26% of kite buggy enthusiasts. The most common incident dynamic (61.8%) was the OBE (an acronym for ‘out-of-buggy experience’). Causal factors were largely equipment-related (42.3%), with remaining incidents being equally attributable to environmental and human factors. While upper and lower limbs were equally involved in incidents, the most frequently affected anatomical site was the shoulder (23%). Conclusion Kite buggying can be considered a sport with the potential for serious injury. Injury prevention in this sport needs to be approached from several angles and should include the development and adoption of automatic release systems and shoulder guards, the establishment of formal training programs covering the subject of meteorology and the establishment of secure, designated kite buggying areas. Findings from this study are important for two reasons. First, they demonstrate the significance of understanding specific sports when considering health and safety, and second, the study provides specific data for the fast growing extreme sport of kite buggying.

Abstract The aim of this article is to describe the role of second-level imaging techniques after an initial ultrasonography evaluation in the assessment of scrotal diseases. While ultrasonography remains central as the primary imaging modality for the evaluation of pathologic conditions of the scrotum, the role of magnetic resonance imaging continues to evolve: it can actually be valuable as a problem-solving tool when sonographic findings are equivocal or inconclusive. Magnetic resonance imaging of the scrotum may provide accurate detection and characterization of scrotal diseases, well depicting the precise location of scrotal masses (intratesticular or extratesticular) and reliably characterizing benign conditions simulating neoplastic processes, thus preventing unnecessary radical surgery. Advanced magnetic resonance techniques, most of all diffusion weighted imaging and magnetic resonance spectroscopy, play in the meanwhile a more significant role in evaluating scrotal diseases. Teaching points • Multiparametric ultrasonography usually represents the initial imaging modality for approaching scrotal diseases. • MRI is well established as a problem-solving tool for inconclusive sonographic findings. • Advanced MRI techniques can be successfully applied in scrotal pathology assessment. • MRI is valuable in differentiating benign conditions from neoplastic processes. • CT plays a role in trauma assessment and cancer staging alongside PET/CT.

Severe non-infectious or non-haemorrhagic brain edema surrounding the electrode represents a rare complication of subthalamic nucleus deep brain stimulation (STN-DBS) surgery. The aim of this study is to report three patients with advanced Parkinson's Disease (PD) who developed symptomatic brain edema after STN-DBS surgery treated with intravenous steroids with a specific profile of reversible cognitive alterations. Patients were both assessed with a comprehensive neuropsychological battery including attention, memory, visuo-spatial and executive tasks. They were also briefly assessed for emotional and behavioural alterations, and for possible limitations in the activities of daily living. Normative data for an Italian population were available for all neuropsychological tests. The patients were firstly assessed before the surgery (baseline) as soon as they became symptomatic for the post-surgery edema and a few more times in follow-up up to ten months. In all patients we observed the resolution of cognitive deficits within six months after surgery with the corresponding reabsorption of edema at brain CT scans. The appearance of post-DBS edema is a fairly frequent and clinically benign event. However, in some rare cases it can be very marked and lead to important clinical—albeit transient—disturbances. These events can compromise, at least from a psychological point of view, the delicate path of patients who undergo DBS and can prolong the post-operative hospital stay. In this setting it could be helpful to perform a brain CT scan in 2–3 days with the aim of detecting the early appearance of edema and treating it before it can constitute a relevant clinical problem. [ABSTRACT FROM AUTHOR]

Background and importance: Intramedullary spinal cord metastases (ISCMs) are rare and no cases of ISCM from an adenoid cystic carcinoma (ACC) of the external auditory canal (EAC) have been reported. Clinical presentation: We report a 54-year old man complaining backpain and worsening myelopathy. He had an ACC of the EAC resected years prior. A spinal MRI demonstrated a contrast-enhancing intramedullary lesion within the conus medullaris. The histopathological diagnosis of the patient was consistent with the patient's primary cancer. At 3 months follow-up, the neurological condition of the patient was unchanged. Conclusions: This is the first reported case of ISCM from a primary ACC of the EAC. [ABSTRACT FROM AUTHOR]

Lo scopo dello studio è quello di descrivere e valutare la fattibilità di un approccio allargato transcanalare transpromontoriale al condotto uditivo interno e allangolo pontocerebellare (ExpTTA). Nel settembre 2015 è stato condotto uno studio di dissezione su cadavere. In totale 2 teste (4 lati) son state dissecate focalizzando lattenzione sullanatomia chirurgica. I dati ottenuti dalle dissezioni son stati quindi analizzati. In tutti e quattro i lati è stato possibile eseguire la procedura, e tutti i punti di repere descritti son stati identificati. In tutti i cadaveri si è resa necessaria una ampia fresatura della articolazione temporo-mandibolare e il calibraggio del condotto uditivo esterno per permettere una adeguata esposizione e possibilità di manovra degli strumenti e le ottiche, e per accedere agevolmente allangolo pontocerebellare. Anche la scheletrizzazione della carotide interna e del golfo della giugulare si sono rese necessarie con la stessa finalità. In conclusione lExpTTA si è dimostrata efficace per accedere chirugicamente al condotto uditivo interno e allangolo pontocerebellare. Il potenziale uso estensivo e routinario di questo tipo di approccio alla pratica clinica dipenderà dallo sviluppo di tecnologie adeguate, dal rifinirsi di questa nuova tecnica, e dalla diffusione delle capacità manuali di chirurgia endoscopica del basicranio tra la comunità otorinolaringoiatrica e neurochirugica internazionale.

Abstract Previous research has considered action and adventure sports using a variety of associated terms and definitions which has led to confusing discourse and contradictory research findings. Traditional narratives have typically considered participation exclusively as the pastime of young people with abnormal characteristics or personalities having unhealthy and pathological tendencies to take risks because of the need for thrill, excitement or an adrenaline ‘rush’. Conversely, recent research has linked even the most extreme forms of action and adventure sports to positive physical and psychological health and well-being outcomes. Here, we argue that traditional frameworks have led to definitions, which, as currently used by researchers, ignore key elements constituting the essential merit of these sports. In this paper, we suggest that this lack of conceptual clarity in understanding cognitions, perception and action in action and adventure sports requires a comprehensive explanatory framework, ecological dynamics which considers person-environment interactions from a multidisciplinary perspective. Action and adventure sports can be fundamentally conceptualized as activities which flourish through creative exploration of novel movement experiences, continuously expanding and evolving beyond predetermined environmental, physical, psychological or sociocultural boundaries. The outcome is the emergence of a rich variety of participation styles and philosophical differences within and across activities. The purpose of this paper is twofold: (a) to point out some limitations of existing research on action and adventure sports; (b) based on key ideas from emerging research and an ecological dynamics approach, to propose a holistic multidisciplinary model for defining and understanding action and adventure sports that may better guide future research and practical implications.

Andrea Prontera,1 Stefano Baroni,2 Andrea Marudi,2 Franco Valzania,3 Alberto Feletti,1 Francesca Benuzzi,4 Elisabetta Bertellini,2 Giacomo Pavesi1 1Department of Neurosurgery, Nuovo Ospedale Civile SAgostino-Estense, 2Department of Anesthesiology, Nuovo Ospedale Civile SAgostino-Estense, 3Department of Neurology, Nuovo Ospedale Civile S Agostino-Estense, 4Department of Neuroscience, University of Modena and Reggio Emilia, Modena, Italy Introduction: Awake craniotomy allows continuous monitoring of patients’ neurological functions during open surgery. Anesthesiologists have to sedate patients in a way so that they are compliant throughout the whole surgical procedure, nevertheless maintaining adequate analgesia and anxiolysis. Currently, the use of α2-receptor agonist dexmedetomidine as the primary hypnotic–sedative medication is increasing.Methods: Nine patients undergoing awake craniotomy were treated with refined monitored anesthesia care (MAC) protocol consisting of a combination of local anesthesia without scalp block, low-dose infusion of dexmedetomidine, propofol, and remifentanil, without the need of airways management.Results: The anesthetic protocol applied in our study has the advantage of decreasing the dose of each drug and thus reducing the occurrence of side effects. All patients had smooth and rapid awakenings. The brain remained relaxed during the entire procedure.Conclusion: In our experience, this protocol is safe and effective during awake brain surgery. Nevertheless, prospective randomized trials are necessary to confirm the optimal anesthetic technique to be used. Keywords: dexmedetomidine, awake surgery, anesthesia

Live cell super-resolution imaging requires a high temporal resolution, which remains a challenge. Here the authors combine photo-activated localization microscopy (PALM) with super-resolution optical fluctuation imaging (SOFI) to achieve high spatiotemporal resolution and quantitative imaging of focal adhesion dynamics.