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Background: Myosin heavy chain 7 ( MYH7 )-related myopathies ( MYH7 -RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement., Methods: We retrospectively analysed the clinical, muscle MRI, genetic and myopathological features of 57 MYH7 patients. Patients received a thorough neurological (n=57, 100%), cardiac (n=51, 89%) and respiratory (n=45, 79%) assessment. Muscle imaging findings and muscle biopsies were reappraised in 19 (33%) and 27 (47%) patients, respectively., Results: We identified three phenotypes with varying degrees of overlap: distal myopathy (70%), scapuloperoneal (23%) and axial with peculiar cervical spine rigidity called the 'sphinx' phenotype (7%). 14% of patients had either dilated cardiomyopathy, hypertrophic cardiomyopathy or left ventricular non-compaction cardiomyopathy. 31% of patients had prominent respiratory involvement, including all patients with the 'sphinx' phenotype. Muscle MRI showed involvement of tibialis anterior, followed by quadriceps, and erector spinae in patients with axial phenotype. Cores represented the most common myopathological lesion. We report 26 pathogenic variants of MYH7 gene, 9 of which are novel., Conclusions: MYH7 -RMs have a large phenotypic spectrum, including distal, scapuloperoneal or axial weakness, and variable cardiac and respiratory involvement. Tibialis anterior is constantly and precociously affected both clinically and on muscle imaging. Cores represent the most common myopathological lesion. Our detailed description of MYH7 -RMs should improve their recognition and management., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Anterior shoulder dislocations have a high recurrence rate, often necessitating stabilizing surgery, with residual long-term fear of reinjury., Objectives: To explore patients' experiences of anterior shoulder dislocations in relation to their lives, well-being, fear of reinjury, and future perspectives., Design: Qualitative study., Methods: We interviewed fourteen individuals (median age 27.5 yrs, range 21-40; two women) with traumatic anterior glenohumeral dislocation within 5 years, with or without past stabilizing surgery. We analysed data using Interpretive Description., Results: We constructed three main themes. (1) Downward wellness spiral: The injury shattered their lives, influencing their self-identity and -confidence. Sleep disturbances added to stress levels, loss, depression and grief. The re-injury risk could lead to social isolation. (2) Out of arm's reach: Recurrences led to frustration as the prior surgery and rehabilitation appeared to have been unsuccessful, having to start again. Support from healthcare providers and whānau/family was crucial to regain trust in the body. (3) Obligatory compromise: Over time, some individuals accepted the re-injury risk, learnt to heed warning signals, or compromised by avoiding specific social and recreational activities, changing their sports or to other roles in their preferred sport, and adapting work-related and daily tasks., Conclusion: Participants described in-depth socio-emotional responses following shoulder dislocations. Most participants described an ongoing interplay between fear and confidence in their shoulder. Healthcare provider support and professional relationship, on-going shoulder-related strengthening, and risk mitigation strategies were important to facilitate and maintain confidence and self-efficacy, and to re-consider and adjust the participant's goals when needed., Competing Interests: Declaration of competing interest None declared., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: The rapid growth of women's rugby union has underscored the need for female-specific player welfare protocols, particularly regarding the risk of head injuries. Instrumented mouthguards (iMGs) play a vital role in gathering comprehensive data on head acceleration events (HAEs), including their frequency, magnitude, and spatial distribution during games and training. By doing so, iMGs offer valuable context for circumstances in women's matches that may increase player risk., Objectives: The study aimed to contextualize HAEs in female community rugby players using instrumented mouthguards and video review., Methods: This prospective, observational cohort study involved 332 female rugby players across 38 matches and 80 training sessions during the 2021/2022 seasons. Players were representative of four playing grades: U13 (N = 9), U15 (N = 111), U19 (N = 95) and Premier women (N = 115). HAEs were recorded using boil-and-bite iMGs, with a single-axis recording threshold of 5 g. The incidence and prevalence of HAEs was expressed by grade, years of experience, playing positions, and session types (match or training). The effect of playing grade and previous playing experience on HAE propensity during tackles and rucks was also examined., Results: Throughout the study, 9151 iMG events over 5 g were recorded, with 80% verified for analysis. Overall, the incidence rate (IR) was highest for HAEs between 10 and 29 g, 12-18 times higher than the IR for > 30-g events. Premier grade players had the highest weekly HAE load (26.2 per player per week) and the highest prevalence of players (49%) exposed to events over 30 g. An inverse relationship was found between years of rugby experience and peak angular acceleration (PAA) in U13-U19 players (p = 0.002, 95% CI [47,177 rads/s 2 ]), showing that more experienced school-age players had lower rotational acceleration during HAEs. However, propensity for HAEs in tackle events was highest in Premier players with > 9 years of experience compared with U13-U19 grade players with similar years of experience (RR = 1.21, 95% CI 1.06-1.37; p = 0.004). Ball carries consistently resulted in the highest propensity of events over 30 g, regardless of playing grade or experience., Conclusions: This research presents unique information regarding head accelerations that occur during women's community rugby matches and practices. The results have significant implications for recognising populations that are at the highest risk of experiencing high cumulative and acute head accelerations. The findings may assist in managing training loads and instructing skill execution in high-risk activities, particularly for younger players who are new to the sport. Consideration of playing grade, experience, and contact phases is crucial for understanding head acceleration exposure and injury risk in female rugby players. These insights can inform injury prevention strategies., (© 2024. The Author(s).)

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles. Early-onset patients display more severe muscle weakness and atrophy, resulting in a higher frequency of associated skeletal abnormalities. In these patients, multisystem involvement, including respiratory, ocular, and auditory, is more frequent and severe and may include the central nervous system. Adult-onset FSHD patients may also display some degree of multisystem involvement which mainly remains subclinical. In 95% of cases, FSHD patients carry a pathogenic contraction of the D4Z4 repeat units (RUs) in the subtelomeric region of chromosome 4 (4q35), which leads to the expression of DUX4 retrogene, toxic for muscles (FSHD1). Five percent of patients display the same clinical phenotype in association with a mutation in the SMCHD1 gene located in chromosome 18, inducing epigenetic modifications of the 4q D4Z4 repeated region and expression of DUX4 retrogene. This review highlights the complexities and challenges of diagnosing and managing FSHD, underscoring the importance of standardized approaches for optimal patient outcomes. It emphasizes the critical role of multidisciplinary care in addressing the diverse manifestations of FSHD across different age groups, from skeletal abnormalities in early-onset cases to the often-subclinical multisystem involvement in adults. With no current cure, the focus on alleviating symptoms and slowing disease progression through coordinated care is paramount., (© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)

Objectives: Understanding key stakeholders' perceptions around the value of baseline testing, as well as barriers or facilitators experienced as part of the process, may assist with the decision-making process of whether to implement baseline testing in community sport. This study explored coaches', players' and physiotherapists' perceptions of the perceived value, barriers and facilitators of baseline testing as part of New Zealand Rugby's (NZR) community concussion initiative., Design: The study employed a pragmatic, qualitative descriptive design., Methods: Semi-structured interviews were used to explore participants' perceptions. In total, 73 individual interviews were conducted. The sample consisted of 36 players, 13 coaches and 24 physiotherapists involved in NZR's concussion management pathway. Interviews were audio-recorded and transcribed verbatim. Data were analysed using thematic analysis., Results: In terms of perceived value, baseline testing was reported to play a role in i) facilitating a positive concussion culture; ii) positive perceptions of rugby and player safety and iii) enhancing concussion management as part of the pathway. Barriers and facilitators of the baseline testing process included i) stakeholder buy-in as critical driver of the process and ii) contextual and operational factors. Although contextual and operational challenges exist, these participants, as key stakeholders in the process, perceived the value of baseline testing to be more important than the barriers experienced., Conclusions: The value of baseline testing extends beyond concussion assessment and management, by enhancing community concussion awareness, attitudes and player safety. The findings of this study may assist in the decision-making process around inclusion of pre-season baseline testing in community rugby., Competing Interests: Declaration of interest statement At the time of the study, DS was employed by New Zealand Rugby., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Introduction and importance: Large retroperitoneal schwannomas are rare and present significant challenges in surgical management, particularly when located in the pelvic region. Gynecologists can encounter rare problems when a pelvic schwannoma is mistaken for an adnexal pathology. Case Presentation: A 62-year-old woman presented with a giant retroperitoneal mass suspected of a potentially malignant ovarian tumor preoperatively. Computed tomography revealed a large mixed solid-cystic mass near the right adnexa measuring 118 × 100 × 80 mm. The cancer antigen 125 level was 196 U/mL. We performed a diagnostic-operative laparoscopy, which showed a retroperitoneal neoformation below the cava and aortic bifurcation adherent to the sacrum, right pelvic vessels, and hypogastric nerve up to the vagina. We carefully detached the mass from the nearby tissues using the most appropriate laparoscopic devices. The entire neoplasm was removed through the vagina into a surgical bag. The surgery lasted 180 min without complications. Histology revealed a grade I benign schwannoma. At the 12-month follow-up, the patient was asymptomatic without signs of recurrence. Clinical Discussion: Pelvic retroperitoneal schwannomas can mimic ovarian carcinomas; misdiagnosis may occur due to their rarity and the difficulty of interpreting preoperative imaging. In case of unexpected giant presacral schwannomas surgical management is challenging due to their peculiar location. Conclusion: This case underscores the need for a skilled, experienced team of gynecological oncologists to achieve favorable outcomes when performing laparoscopic surgery of giant pelvic retroperitoneal schwannoma. Adequate knowledge of the complex pelvic anatomy, careful surgical planning, and familiarity with the most appropriate surgical tools are critical points., Competing Interests: Declaration of competing interest The authors declare no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background & Purpose: In this retrospective study, we aimed at defining the clinical, paraclinical and outcome features of acute neurological syndromes associated with anti-GQ1b antibodies., Results: We identified 166 patients with neurological symptoms appearing in less than 1 month and anti-GQ1b antibodies in serum between 2012 and 2022. Half were female (51%), mean age was 50 years (4-90), and the most frequent clinical features were areflexia (80% of patients), distal upper and lower limbs sensory symptoms (78%), ophthalmoplegia (68%), sensory ataxia (67%), limb muscle weakness (45%) and bulbar weakness (45%). Fifty-three patients (32%) presented with complete (21%) and incomplete (11%) Miller Fisher syndrome (MFS), thirty-six (22%) with Guillain-Barre syndrome (GBS), one (0.6%) with Bickerstaff encephalitis (BE), and seventy-three (44%) with mixed MFS, GBS & BE clinical features. Nerve conduction studies were normal in 46% of cases, showed demyelination in 28%, and axonal loss in 23%. Anti-GT1a antibodies were found in 56% of cases, increased cerebrospinal fluid protein content in 24%, and Campylobacter jejuni infection in 7%. Most patients (83%) were treated with intravenous immunoglobulins, and neurological recovery was complete in 69% of cases at 1 year follow-up. One patient died, and 15% of patients relapsed. Age > 70 years, initial Intensive Care Unit (ICU) admission, and absent anti-GQ1b IgG antibodies were predictors of incomplete recovery at 12 months. No predictors of relapse were identified., Conclusion: This study from Western Europe shows acute anti-GQ1b antibody syndrome presents with a large clinical phenotype, a good outcome in 2/3 of cases, and frequent relapses., (© 2024. Springer-Verlag GmbH Germany, part of Springer Nature.)

Immune checkpoint inhibitors (ICIs) present clinicians with the challenge of managing immune-related adverse events (irAEs), which can range from mild to severe due to immune system activation 1 . While guidelines recommend discontinuing ICIs for grade 3 partial and all grade 4 irAEs, there is growing interest in rechallenging patients based on oncological outcomes, particularly for cardiovascular and neurological irAEs where data remains scarce 1,2 . We retrospectively evaluated the safety of ICI rechallenge following grade 3-4 irAEs, specifically focusing on cardiovascular and neurological events, in patients discussed at our multidisciplinary immunotoxicity assessment board between 2019 and 2021. Fifteen patients were included, with a median time to severe irAE onset of 49 days. Among them, five patients experienced neurological adverse events (NAEs): aseptic meningitis (3), inflammatory polyradiculoneuropathy (1), and ophthalmoplegia (1), while one patient presented with myocarditis. Of the 15 patients retreated with ICIs after initial severe irAEs, 11 (73%) remained free of subsequent irAEs, two (13%) experienced recurrence of the initial irAE, and two (13%) developed new irAEs distinct from the initial event. The median time to event recurrence was 69 days, occurring no earlier than the initial severe irAE. In the subset analysis focusing on severe cardiovascular and neurological irAEs, rechallenge with ICIs was generally well tolerated. However, one patient treated with anti-PD1 experienced a relapse of grade 2 aseptic meningitis. Overall, our findings suggest that rechallenging with ICIs after severe irAEs, including those affecting the cardiovascular and neurological systems, may be safe, particularly after irAE regression and corticosteroid withdrawal., Competing Interests: EG: congress fees and investigator for BMS and MSD. RV: speakers’ bureau for BMS. SM-P: consultant on boards for BMS. AP-L: congress fees for BMS. CDu: Clinical investigation in trials, congress fees and member of boards for BMS, MSD. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Eldani, Kostine, Faure, Lazaro, Rigothier, Hiriart, Teulières, Poullenot, Haissaguerre, Zysman, Veillon, Vergnenegre, Issa, Domblides, Mary-Prey, Beylot-Barry, Pham-Ledard, Dutriaux, Sole, Duval and Gerard.)

Background: New Zealand Rugby (NZR) implemented a concussion management pathway (CMP) to improve management at the community level. Physiotherapists play an important role in the CMP., Objective: This study explored physiotherapists' experiences in the management of community rugby-related concussion as part of the CMP., Methods: We adopted a pragmatic, descriptive qualitative approach to explore perceptions of twenty-four physiotherapists involved in the CMP. Thematic analysis was used to analyze data., Results: Four themes represented participants' experiences: 1) 'walking the tight rope between player welfare and performance' described the balancing act between different attitudes and priorities of the various rugby stakeholders; 2) empowering physiotherapists' authority and responsibilities, described the influence of physiotherapists' authority within the team and concussion management responsibilities; 3) multi-directional communication, described the role of communication between multiple stakeholders; and 4) the influence of context, which included the complexity of concussion, concussion knowledge of the physiotherapists and team, resource support for the physiotherapist, and access to a medical doctor., Conclusion: Physiotherapists had positive attitudes toward the CMP and are well-positioned to play an active role in the pathway. Priorities of other stakeholders, authority of the physiotherapist and the communication flow influences physiotherapists' ability to optimally manage players with concussion.

Background: Individuals with a recent anterior cruciate ligament reconstruction may demonstrate an altered movement strategy for protecting the knee and maintaining stability. Altered knee movement might lead to abnormal intra-articular load, potentially contributing to early knee osteoarthritis onset. A protective strategy may be particularly evident during active tasks that induce a pivot-shift manoeuvre, such as a step-down and cross-over task. In this study, we investigated whether knee joint mechanics and muscle activity differed between participants early (∼3 months) following reconstruction (n = 35) to uninjured controls (n = 35) during a step-down and cross-over task with a 45° change-of-direction., Methods: We used motion capture, force plates and surface electromyography to compare time-normalised curves of sagittal and transverse-plane knee mechanics and muscle activity during the cross-over phase between groups using functional t-tests. We also compared knee mechanics between sides within the injured group and compared discrete outcomes describing the cross-over phase between groups., Findings: Compared to controls, the injured participants had greater knee flexion angle and moment, lower internal rotation moment, more preparatory foot rotation of the pivoting leg, a smaller cross-over angle, and a longer cross-over phase for both the injured and uninjured sides. The injured leg also had greater biceps femoris and vastus medialis muscle activity compared to controls and different knee mechanics than the uninjured leg., Interpretation: Individuals with anterior cruciate ligament reconstruction showed a knee-stabilising and pivot-shift avoidance strategy for both legs early in rehabilitation. These results may reflect an altered motor representation and motivate considerations early in rehabilitation., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Charlotte K Häger reports financial support was provided by Swedish Research Council (2017–00892; 2022–00774). Charlotte K Häger reports financial support was provided by Region Västerbotten (Cutting Edge funding Grant No RV966109; ALF funding RV 967112; VLL838421; Strategic funding VLL358901, Project No. 7002795; ALF funding 2022–2024; Cutting Edge Funding 2022–2024). Charlotte K Häger reports financial support was provided by The Swedish Research Council for Sports Science (P2020–0035; P2021–0061; 2022/10 P2023–0030). Charlotte K Häger reports financial support was provided by Umeå University Foundation for Medical Research 2019–2023. Charlotte K Häger reports financial support was provided by King Gustaf V and Queen Victoria's Foundation of Freemasons. Charlotte K Häger reports financial support was provided by Umeå university Strategic research area health care science, SFOV. All authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier Ltd.)

There is a growing concern around concussions in rugby union, at all levels of the game. These concerns highlight the need to better manage and care for players. However, consistency around concussion-related responsibilities of stakeholders across the community rugby system remains challenging. Taking a systems thinking approach, this pragmatic, qualitative descriptive study explored key stakeholder groups within New Zealand's community rugby system's perceptions of their own and others' concussion-related responsibilities. Participants included players from schools and clubs, coaches, parents, team leads and representatives from four provincial unions. A total of 155 participants (67 females and 88 males) were included in the study. Focus groups and individual interviews were conducted. Thematic content analysis was used to analyse data. Thirty concussion-related responsibilities were identified. These responsibilities were contained within four themes: (1) policies and support (responsibilities which influence policy, infrastructure, human or financial resources); (2) rugby culture and general management (responsibilities impacting players' welfare and safety, attitudes and behaviour, including education, injury reporting and communication); (3) individual capabilities (responsibilities demonstrating knowledge and confidence managing concussion, leadership or role/task shifting) and (4) intervention following a suspected concussion (immediate responsibilities as a consequence of a suspected concussion). The need for role clarity was a prominent finding across themes. Additionally, injury management initiatives should prioritise communication between stakeholders and consider task-shifting opportunities for stakeholders with multiple responsibilities. How concussions will realistically be managed in a real-world sports setting and by whom needs to be clearly defined and accepted by each stakeholder group. A 'framework of responsibilities' may act as a starting point for discussion within different individual community rugby contexts on how these responsibilities translate to their context and how these responsibilities can be approached and assigned among available stakeholders., Competing Interests: Competing interests: During the course of the study, DMS and JC were employed by NZ Rugby., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is linked to a genetic mutation on the X chromosome. In contrast to Duchenne muscular dystrophy, for which improved care and management have changed the prognosis and life expectancy of patients, few guidelines have been published for management of BMD. Many clinicians are inexperienced in managing the complications of this disease. In France, a committee of experts from a wide range of disciplines met in 2019 to establish recommendations, with the goal of improving care of patients with BMD. Here, we present the tools to provide diagnosis of BMD as quickly as possible and for differential diagnoses. Then, we describe the multidisciplinary approach essential for optimum management of BMD. We give recommendations for the initial assessment and follow-up of the neurological, respiratory, cardiac, and orthopedic consequences of males who present with BMD. Finally, we describe the optimal therapeutic management of these complications. We also provide guidance on cardiac management for female carriers., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Background: Some myopathies can lead to dropped head or bent spine syndrome (DH/BS). The significance of this symptom has not been studied in inflammatory myopathies (IM)., Objectives: To assess the significance of DH/BS in patients with IM., Methods: Practitioners from five IM networks were invited to report patients with IM suffering from DH/BS (without other known cause than IM). IM patients without DH/BS, randomly selected in each participating centre, were included as controls at a ratio of 2 to 1., Results: 49 DH/BS-IM patients (DH: 57.1%, BS: 42.9%) were compared with 98 control-IM patients. DH/BS-IM patients were older (65 years vs 53 years, p<0.0001) and the diagnosis of IM was delayed (6 months vs 3 months, p=0.009). Weakness prevailing in the upper limbs (42.9% vs 15.3%), dysphagia (57.1% vs 25.5%), muscle atrophy (65.3% vs 34.7%), weight loss (61.2% vs 23.5%) and loss of the ability to walk (24.5% vs 5.1%) were hallmarks of DH/BS-IM (p≤0.0005), for which the patients more frequently received intravenous immunoglobulins (65.3% vs 34.7%, p=0.0004). Moreover, DH/BS-IM patients frequently featured signs and/or complications of systemic sclerosis (SSc), fulfilling the American College of Rheumatology/European Alliance of Associations for Rheumatology criteria for this disease in 40.8% of the cases (vs 5.1%, p<0.0001). Distribution of the myopathy, its severity and its association with SSc were independently associated with DH/BS (p<0.05). Mortality was higher in the DH/BS-IM patients and loss of walking ability was independently associated with survival (p<0.05)., Conclusion: In IM patients, DH/BS is a marker of severity and is associated with SSc (scleromyositis)., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Guillain-Barre syndrome (GBS) is an acute inflammatory polyradiculoneuropathy rarely observed during pregnancy., Methods: In this retrospective study, we analyzed the characteristics of pregnant women with GBS (pGBS) diagnosed in French University Hospitals in the 2002-2022 period and compared them with a reference group of same-age non-pregnant women with GBS (npGBS) identified in the same institutions & timeframe., Results: We identified 16 pGBS cases. Median age was 31 years (28-36), and GBS developed in the 1st, 2nd, and 3rd trimester in 31%, 31% and 38% of cases respectively. A previous infection was identified in six cases (37%), GBS was demyelinating in nine cases (56%), and four patients (25%) needed respiratory assistance. Fifteen patients (94%) were treated with intravenous immunoglobulins, and neurological recovery was complete in all cases (100%). Unscheduled caesarean section was needed in five cases (31%), and two fetuses (12.5%) died because of cytomegalovirus (CMV) infection (1 case) and HELLP (Hemolysis, Elevated Liver enzymes and Low Platelets) syndrome (1 case). In comparison with a reference group of 18 npGBS women with a median age of 30 years (27-33), pGBS patients more frequently had CMV infection (31% vs 11%), had a prolonged delay between GBS onset and hospital admission (delay > 7 days: 57% vs 12%), more often needed ICU admission (56% vs 33%) and respiratory assistance (25% vs 11%), and more often presented with treatment-related fluctuations (37% vs 0%)., Conclusions: This study shows GBS during pregnancy is a severe maternal condition with significant fetal mortality., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Background and Objectives: The French Pompe disease registry was created in 2004 for study of the natural course of the disease in patients. It rapidly became a major tool for assessing the long-term efficacy of enzyme replacement therapy (ERT) after the market release of alglucosidase-alfa., Methods: Approximately 10 years after publication of the baseline characteristics of the 126 initial patients of the French Late-Onset Pompe Disease registry, we provide here an update of the clinical and biological features of patients included in this registry., Results: We describe 210 patients followed at 31 hospital-based French neuromuscular or metabolic centers. The median age at inclusion was 48.67 ± 14.91 years. The first symptom was progressive lower limb muscle weakness, either isolated (50%) or associated with respiratory symptoms (18%), at a median age of 38 ± 14.9 years. At inclusion, 64% of the patients were able to walk independently and 14% needed a wheelchair. Positive associations were found between motor function measure, manual motor test, and 6-minute walk test (6MWT) results, and these parameters were inversely associated with the time taken to sit up from a lying position at inclusion. Seventy-two patients had been followed for at least 10 years in the registry. Thirty-three patients remained untreated a median of 12 years after symptom onset. The standard ERT dose was administered for 177 patients., Discussion: This update confirms previous findings for the adult population included in the French Pompe disease registry, but with a lower clinical severity at inclusion, suggesting that this rare disease is now diagnosed earlier; thanks to greater awareness among physicians. The 6MWT remains an important method for assessing motor performance and walking ability. The French Pompe disease registry provides an exhaustive, nationwide overview of Pompe disease and can be used to assess individual and global responses to future treatments., (© 2023 American Academy of Neurology.)

Background and Objectives: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders., Methods: Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel., Results: Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At presentation, 21 patients (29.6%) showed exclusive proximal weakness (P-SMA), 35 (49.3%) showed associated distal weakness (PD-SMA), and 15 (21.1%) a scapuloperoneal phenotype (SP-SMA). Thirty-two patients (45.1%) had a genetic diagnosis: BICD2 (n = 9), DYNC1H1 (n = 7), TRPV4 (n = 4), VCP , HSBP1 , AR (n = 2), VRK1 , DNAJB2 , MORC2 , ASAH1 , HEXB , and unexpectedly, COL6A3 (n = 1). The genetic diagnostic yield was lowest in P-SMA (6/21, 28.6%) compared with PD-SMA (16/35, 45.7%) and SP-SMA (10/15, 66.7%). An earlier disease onset and a family history of the disease or consanguinity were independent predictors of a positive genetic diagnosis. Neuropathy gene panels were performed in 59 patients with a 32.2% diagnostic yield (19/59). In 13 additional patients, a genetic diagnosis was achieved through individual gene sequencing or an alternative neuromuscular NGS., Discussion: Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes., Competing Interests: The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)

Objectives: This study reports a process evaluation of the Otago MASTER (MAnagement of Subacromial disorders of The shouldER) feasibility trial. This mixed-methods, process evaluation study was conducted parallel to the Otago MASTER feasibility trial. Our aims were to investigate: (1) supervised treatment fidelity of the interventions and (2) clinicians' perceptions of the trial interventions through a focus group., Design: Nested process evaluation study using a mixed-methods approach., Setting: Outpatient clinic., Participants: Five clinicians (two men, three women) aged 47-67 years, with clinical experience of 18-43 years and a minimum of postgraduate certificate training, were involved with the delivery of interventions within the feasibility trial. We assessed treatment fidelity for supervised exercises through audit of clinicians' records and compared those with the planned protocol. Clinicians took part in a focus group that lasted for approximately 1 hour. The focus group was transcribed verbatim and focus group discussion was analysed thematically using an iterative approach., Results: The fidelity score for the tailored exercise and manual therapy intervention was 80.3% (SD: 7.7%) and for the standardised exercise intervention, 82.9% (SD: 5.9%). Clinicians' perspectives about the trial and planned intervention were summarised by one main theme 'conflict experienced between individual clinical practice and the intervention protocol', which was supported by three subthemes: (1) programme strengths and weaknesses; (2) design-related and administrative barriers; and (3) training-related barriers., Conclusion: This mixed-methods study assessed supervised treatment fidelity of interventions and clinicians' perceptions on planned interventions tested in the Otago MASTER feasibility trial. Overall, treatment fidelity was acceptable for both intervention arms; however, we observed low fidelity for certain domains within the tailored exercise and manual therapy intervention. Our focus group identified several barriers clinicians faced while delivering the planned interventions. Those findings are of relevance for planning the definite trial and for researchers conducting feasibility trials., Trial Registration Number: ANZCTR: 12617001405303., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Perceptually, there is a discrepancy between research evidence and clinical physiotherapy practice for supporting self-management in people with low back pain (LBP)., Objective: This study aimed to explore physiotherapists' understanding of LBP; ascertain their knowledge of self-management concepts; and explore their attitudes and beliefs about supporting self-management for LBP within present physiotherapy practice in private and hospital settings., Design: Interpretive Description qualitative methodology, involving in-depth data interpretation to clinical practice, was used., Methods: Semi-structured interviews with physiotherapists throughout New Zealand were conducted via video conferencing. Data was analysed and themes were defined., Results: Seventeen physiotherapists (24-65 years old), with between one and 40+ years of experience, participated. Four main themes were defined: 1) Evolving understanding of LBP, 2) apportioning responsibility, 3) self-management is important, 4) understanding self-management., Conclusion: Novel findings from this research demonstrate examples of attitudes and beliefs that determine when and how self-management for people with LBP is implemented. Due to these attitudes and beliefs, physiotherapists may not consistently provide supported self-management for people with LBP. Participants had good understanding of LBP but lacked a contemporary knowledge of the natural history and tended to apportion responsibility for persistent or recurrent episodes to the person with LBP. Physiotherapists should be encouraged to assimilate more contemporary research evidence into their expectations of recovery for LBP. Further education about the role of physiotherapists in supporting self-management, the core components of self-management, including engagement, and reflection upon individual unconscious bias should be encouraged., Competing Interests: Declaration of competing interest None declared., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background: The joint position sense (JPS) is an element of proprioception and defined as an individual's ability to recognize joint position in space. The JPS is assessed by measuring the acuity of reproducing a predetermined target angle. The quality of psychometric properties of knee JPS tests after anterior cruciate ligament reconstruction (ACLR) is uncertain., Purpose/hypothesis: The purpose of this study was to evaluate the test-retest reliability of a passive knee JPS test in patients who underwent ACLR. We hypothesized that the passive JPS test would produce reliable absolute error, constant error, and variable error estimates after ACLR., Study Design: Descriptive laboratory study., Methods: Nineteen male participants (mean age, 26.3 ± 4.4 years) who had undergone unilateral ACLR within the previous 12 months completed 2 sessions of bilateral passive knee JPS evaluation. JPS testing was conducted in both the flexion (starting angle, 0°) and the extension (starting angle, 90°) directions in the sitting position. The absolute error, constant error, and variable error of the JPS test in both directions were calculated at 2 target angles (30° and 60° of flexion) by using the angle reproduction method for the ipsilateral knee. The standard error of measurement (SEM), smallest real difference (SRD), and intraclass correlation coefficients (ICCs) with 95% Cis were calculated., Results: ICCs were higher for the JPS constant error (operated and nonoperated knee, 0.43-0.86 and 0.32-0.91, respectively) compared with the absolute error (0.18-0.59 and 0.09-0.86, respectively) and the variable error (0.07-0.63 and 0.09-0.73, respectively). The constant error of the 90°-60° extension test showed moderate to excellent reliability for the operated knee (ICC, 0.86 [95% CI, 0.64-0.94]; SEM, 1.63°; SRD, 4.53°), and good to excellent reliability for the nonoperated knee (ICC, 0.91 [95% CI, 0.76-0.96]; SEM, 1.53°; SRD, 4.24°)., Conclusion: The test-retest reliability of the passive knee JPS tests after ACLR varied depending on the test angle, direction, and outcome measure (absolute error, constant error, or variable error). The constant error appeared to be a more reliable outcome measure than the absolute error and the variable error, mainly during the 90°-60° extension test., Clinical Relevance: As constant errors have been found reliable during the 90°-60° extension test, investigating these errors-in addition to absolute and variable errors-to reflect bias in passive JPS scores after ACLR is warranted., Competing Interests: The authors declared that there are no conflicts of interest in the authorship and publication of this contribution. AOSSM checks author disclosures against the Open Payments Database (OPD). AOSSM has not conducted an independent investigation on the OPD and disclaims any liability or responsibility relating thereto., (© The Author(s) 2023.)

Background: Rotator cuff-related shoulder pain (RCRSP) is a common musculoskeletal problem. The multi-factorial contributors to persistent pain are often overlooked during treatment. Pain neuroscience education (PNE) contributes to a holistic approach for patients with persistent pain but has not yet been researched for patients with RCRSP., Objective: To explore the perspectives and experiences of participants with RCRSP who had completed a programme of PNE-informed pragmatic physiotherapy., Design: A qualitative study using semi-structured interviews., Methods: We included a sub-group of five males and five females, aged 46-75 years, with persistent RCRSP of at least three months. They had undertaken a three-month pragmatic physiotherapy integrated with PNE. Individual semi-structured interviews were recorded, transcribed verbatim, and analysed using the General Inductive Approach., Results: Four themes emanated from the interviews. The first two themes were named 'Patient Beliefs' and overall 'Rapport and Relationship'. Another theme, 'Perspective and Understanding of the Resources', indicated diverse uptake of the resource information. The participants reported developing self-management skills, active coping strategies and a reduction in fear of pain described by the theme: 'Empowerment: My Shoulder into the Future'., Conclusions: Participants experienced a change in their beliefs, which were enhanced by an individualised delivery and a strong therapeutic relationship through the course of the physiotherapy care. The participants appeared to value when the physiotherapist listened to and understood their beliefs. This required a shift in the patient-therapist relationship from the physiotherapist being the 'expert' to facilitating the patient's ability to take control of their shoulder health., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Background: Websites have become a primary way for patients to access health-related information, which allows patients to not only understand their condition better but also to engage in better decision making with their health care provider. However, this can be a double-edged sword, as information patients access may not be of high quality, easily readable, or could be biased based on website authorship. This study examines the readability and content quality of common websites about shoulder pain, with a specific focus on biomedical vs. psychosocial information., Methods: The Flesch reading-ease score (FRES) and Flesch-Kincaid grade level (FKGL) instruments were used to assess website readability. Health on the net code of conduct (HONcode) certification and the DISCERN tool were used to evaluate the reliability and quality of information. Lastly, shoulder-specific content quality and focus was gauged using a Shoulder-specific Website Appraisal Tool (SWAT) created for this study. A systematic search protocol was used to identify popular shoulder injury websites. The websites were identified using 5 search terms (shoulder pain, shoulder muscle pain, shoulder impingement, shoulder rotator cuff pain, and shoulder pain diagnosis) across 5 English-speaking regions (United States, Canada, United Kingdom, Australia, and New Zealand) using the Google search engine. The top 10 websites for each term and region combination were included and combined, yielding 41 original websites for appraisal; several (6) websites were omitted as duplicates, behind paywalls, or nontext (video) for a total of 35 websites appraised., Results: On average, the FRES shoulder pain websites readability was 55.37, which is categorized as "fairly difficult" to read, and a seventh- or eighth-grade reading level based on the FKGL. For trustworthiness and bias, 57% (20 of 35) of the websites were HONcode certified. The quality of health care information using the DISCERN score averaged 50.92%. Examining shoulder-specific content quality, the average SWAT score was 10.54 out of 14 possible points, with only 1 website reporting information on psychosocial aspects of shoulder pain., Conclusions: This study suggests that shoulder pain websites present information that is at too high of a reading level for public consumption, has a strong bias toward biomedical causes of shoulder pain, and would benefit from implementation of website screening tools to improve evidence-based content., (Copyright © 2022 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.)

Purpose: Elastic knee sleeves are often worn following anterior cruciate ligament (ACL) reconstruction. The study aimed to define immediate and 6-week effects of wearing a knee sleeve on ground reaction forces (GRF) and knee joint power during a step-down hop task., Methods: Using a cross-over design, we estimated GRF and knee kinematics and kinetics during a step-down hop for 30 participants following ACL reconstruction (median 16 months post-surgery) with and without wearing a knee sleeve. In a subsequent randomised clinical trial, participants in the 'Sleeve Group' (n = 9) wore the sleeve for 6 weeks at least 1 hour daily, while a 'Control Group' (n = 9) did not wear the sleeve. We compared the following outcomes using statistical parametric mapping (SPM): (1) GRF and knee joint power trajectories between three conditions at baseline (uninjured side, unsleeved injured and sleeved injured side); (2) GRF and knee joint power trajectories within-participant changes from baseline to follow-up between groups. We also compared discrete peak GRFs and power, rate of (vertical) force development, and mean knee joint power in the first 5% of stance phase., Results: SPM showed no differences for GRF for the (unsleeved) injured compared to the uninjured sides; when wearing the sleeve, injured side mean power in the first 5% of stance increased significantly from a concentric to an eccentric power. Discrete variables showed lower peak anterior (propulsive) GRF, mean power in the first 5% of stance, peak eccentric and concentric power for the injured compared to the uninjured sides. After six weeks, a directional change for vertical GRF differed showed slightly decreased forces for the Control Group and increased forces for the Sleeve Group., Conclusion: Wearing a knee sleeve on the anterior cruciate ligament injured knee improved knee power during the first 5% of stance during the step-down hop. No consistent changes were observed for ground reaction forces for SPM and discrete variable analyses. Wearing the knee sleeve at least one hour daily for 6-weeks lead to a directional change of increased vertical GRF for the Sleeve Group at follow-up., Trial Registration: The trial was prospectively registered with the Australia New Zealand Clinical Trials Registry No: ACTRN12618001083280, 28/06/2018. https: //anzctr.org.au/Trial/Registration/TrialReview.aspx?id=375347&isClinicalTrial=False., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2022 Sole et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Many male stroke survivors find it challenging to meet the recommended physical activity (PA) guidelines for health benefits. The spouse/partner is an important source of self-management for stroke survivor PA participation; however, they feel unsupported by health professionals. This study aimed to co-design an educational resource prototype to guide and empower female partners in supporting male stroke survivors' participation in PA. We used a participatory action research (PAR) methodology. Thirteen support persons of male stroke survivors from Canterbury, New Zealand participated in four PAR cycles. The data were collected using individual interviews and focus groups and analyzed inductively using the general inductive approach. Three themes were reflected in the data and informed the prototype content: (1) managing an unwanted and challenging new life, (2) inconsistent access to meaningful information, and (3) considerations for successful stroke survivor PA participation. If partners are to be an essential source in supporting stroke survivors' self-management of PA, they require resources that are meaningful and credible to enhance their confidence and self-efficacy. Further research is needed to explore the acceptability and usability of the educational resource with a wider audience and evaluate the co-design process. An inclusive and collaborative approach where support persons were valued for their expertise was essential in co-designing a meaningful resource intended to support stroke survivors and support persons' self-management of their PA.

Introduction: Identifying patients at risk for chronic musculoskeletal pain can inform evaluation and treatment decisions. The ability of physical therapists to assess patients' risk for chronic pain without use of validated tools has been questioned. The Ӧrebro Musculoskeletal Pain Questionnaire (OMPQ) is used to determine risk for chronic pain., Methods: The aim of this pragmatic study was to prospectively quantify the agreement between physical therapists' assessment of patients' risk for chronic symptoms compared to the OMPQ. Patients were asked to complete the OMPQ during the initial visit. Physical therapists, blinded to OMPQ risk classification, carried out their usual patient assessment procedures. The physical therapists rated patients as either high or low risk for chronic pain based on their clinical assessment. Agreement between therapist and OMPQ was determined using Cohen's Kappa (κ) and screening accuracy compared clinician risk to the OMPQ risk classification (reference standard) by way of contingency table analysis., Results: Ninety-six (96) patients' risk classifications and 15 corresponding physical therapists' risk estimates were available for analysis. The OMPQ identified a 47% prevalence for high risk of chronic pain. Agreement (κ and 95% confidence interval) between physical therapist rating and OMPQ was slight, κ = 0.272 (0.033-0.421), p = .026. Therapists' sensitivity and specificity (95% CI) for determining risk classifications were 60.0% (44.3-74.3) and 62.8% (48.1-75.6), respectively. The positive and negative likelihood ratios (95% CI) were 1.61 (1.05-2.47) and 0.64 (0.42-0.97)., Discussion: The use of validated self-report questionnaires are recommended to supplement clinician prognosis for patients at risk of chronic musculoskeletal pain.

Background: Exergaming (exercise and gaming) is useful in improving balance in various health conditions, yet there is limited research regarding its application in individuals with knee osteoarthritis (OA)., Objectives: The primary aim of this study was to investigate the feasibility and acceptability of exergaming using Nintendo Wii Fit™ to improve balance and reduce the risk of falls in individuals with knee OA., Methods: A mixed-methods explanatory sequential study design was utilized in this study. Participants with knee OA and history of falling participated in a single-group pre-post experimental study design: eight weeks of usual care followed by eight weeks of an exergaming program. This was followed by semi-structured focus groups to determine the acceptability of the study., Results: The pre-defined feasibility criteria such as recruitment, retention rate (83%), and compliance (78%) were successfully met. The participants found the frequency and duration of the assessment and intervention sessions acceptable. Participants reported enjoying the exergaming, finding it motivating and interactive despite some barriers with technology. No adverse events were reported. There were encouraging results in the clinical outcome measures such as knee muscle strength, balance, fear of falling, and performance of physical function., Conclusion: The study found that it is feasible and acceptable to use Nintendo Wii Fit™ as an exergaming tool to improve balance and decrease the risk of falling in adults with knee OA. Findings from this feasibility study are encouraging and support the need to conduct a fully powered randomized controlled trial study.

Objectives: To highlight the need for standardisation in the communication of head impact telemetry from instrumented mouthguards (iMG). The purpose of this study is to examine how the frame of reference for reporting head acceleration events (HAE) may affect the interpretation of head impacts recorded from iMGs in community rugby players., Methods: An analytical investigation of 825 video verified HAEs recorded from male community players during 5 rugby match exposures. HAEs were captured with an iMG, known to be reliable and valid for this purpose. The linear and angular head acceleration at the centre of mass (head&#95;CG) was calculated from filtered iMG accelerometer and gyroscope data, and the location of impact was estimated. The iMG and head&#95;CG data were examined for systematic bias, geometric differences and the degree of concordance. Finally, mixed model analyses were fitted to assess the differences in peak resultant acceleration (PLA) by impact locations and directions of head motion while controlling for intra-athlete correlations., Results: The degree of concordance between the iMG versus head&#95;CG measures varied by impact location. The mixed model confirmed differences in the PLA by location (F (8,819) = 16.55, p<0.001) and by direction of head motion (F (5,417) = 7.78, p<0.001)., Conclusion: The head acceleration reported at the iMG is not proportional to measurements that have been transformed to the head&#95;CG. Depending on the impact location and direction of head motion, the acceleration measured at the iMG may overestimate, underestimate or miss entirely the PLA with respect to the head&#95;CG. We recommend standardising the reporting of iMG data within the head&#95;CG frame of reference., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

New Zealand Rugby (NZR) implemented a concussion management pathway (CMP), aimed at improving management at community level. General Practitioners (GPs) played a large role in the design of this process. The objective of this study was to explore GPs' perceptions of barriers and facilitators of the CMP and rugby-related concussion management in the community. A descriptive qualitative approach using interviews and focus groups was employed. Four themes were derived: i) GPs' existing knowledge and confidence around concussion management; ii) Operational resources: time, remuneration and pathway guidance; iii) Standardising concussion care and iv) Expanding the circle of care - the need for multi-disciplinary healthcare team. These themes described how GP's concussion knowledge, and the efficiency and availability of operational resources affected their experience and ability to fulfil their tasks within the CMP. GPs found NZR's CMP especially valuable, as it provided guidance and structure. Expanding the role of other healthcare providers was seen as critical to reduce the burden on GPs, while also delivering a more holistic experience to improve clinical outcomes. Addressing the identified barriers and expanding the network of care will help to improve the ongoing development of NZR's CMP, while supporting continued engagement with all stakeholders.

Background: Scapular dyskinesis is reported as one of the potential factors contributing to the presentation of pain in subacromial shoulder pain. In clinical practice, the evaluation and control of scapular dyskinesis is considered important for managing the subacromial shoulder pain. The aim is to determine the association between changes in pain or function and changes in scapular rotations in participants with subacromial shoulder pain., Method: Pain, function and scapular rotations were measured in 25 participants with subacromial shoulder pain at baseline and after 8 weeks. Pain was measured with Numeric Pain Rating Scale (NPRS) and function was measured with Patient Specific Functional Scale (PSFS). Scapular rotations were measured with a scapular locator at 60°, 90° and 120° of scapular arm elevation. Spearman rank correlations (r s ) were used to assess the association between variables., Findings: No association was observed between changes in pain or function scores with changes in scapular upward/downward rotations (r s  = 0.03 to 0.27 for pain and - 0.13 to 0.23 for function) and scapular anterior/posterior tilt (r s  = - 0.01 to 0.23 for pain and - 0.13 to 0.08 for function) of arm at 60°, 90° and 120° elevation. Data associated with scapular internal/external rotation was not reported due to low reliability., Conclusion: These findings reject associations between changes in pain or function scores and scapular rotations. Future observational study is warranted using a multifactorial approach to understand potential factors that contribute to the presentation of subacromial shoulder pain., (© 2022. The Author(s).)

Background and Purpose: Andersen-Tawil syndrome (ATS) is a skeletal muscle channelopathy caused by KCNJ2 mutations, characterized by a clinical triad of periodic paralysis, cardiac arrhythmias and dysmorphism. The muscle phenotype, particularly the atypical forms with prominent permanent weakness or predominantly painful symptoms, remains incompletely characterized., Methods: A retrospective clinical, histological, electroneuromyography (ENMG) and genetic analysis of molecularly confirmed ATS patients, diagnosed and followed up at neuromuscular reference centers in France, was conducted., Results: Thirty-five patients from 27 unrelated families carrying 17 different missense KCNJ2 mutations (four novel mutations) and a heterozygous KCNJ2 duplication are reported. The typical triad was observed in 42.9% of patients. Cardiac abnormalities were observed in 65.7%: 56.5% asymptomatic and 39.1% requiring antiarrhythmic drugs. 71.4% of patients exhibited dysmorphic features. Muscle symptoms were reported in 85.7%, amongst whom 13.3% had no cardiopathy and 33.3% no dysmorphic features. Periodic paralysis was present in 80% and was significantly more frequent in men. Common triggers were exercise, immobility and carbohydrate-rich diet. Ictal serum potassium concentrations were low in 53.6%. Of the 35 patients, 45.7% had permanent weakness affecting proximal muscles, which was mild and stable or slowly progressive over several decades. Four patients presented with exercise-induced pain and myalgia attacks. Diagnostic delay was 14.4 ± 9.5 years. ENMG long-exercise test performed in 25 patients (71.4%) showed in all a decremental response up to 40%. Muscle biopsy performed in 12 patients revealed tubular aggregates in six patients (associated in two of them with vacuolar lesions), dystrophic features in one patient and non-specific myopathic features in one patient; it was normal in four patients., Discussion: Recognition of atypical features (exercise-induced pain or myalgia and permanent weakness) along with any of the elements of the triad should arouse suspicion. The ENMG long-exercise test has a high diagnostic yield and should be performed. Early diagnosis is of utmost importance to improve disease prognosis., (© 2022 European Academy of Neurology.)

COVID-19 is a challenge for education systems around the world. This study aimed to evaluate the perceived impact of the COVID-19 pandemic on nursing students, by assessing their emotions, the level of concern in contracting the virus and their perceived stress. We conducted an observational cross-sectional study. A total of 709 nursing students completed an anonymous questionnaire. The levels of anxiety and stress were assessed using the generalized anxiety disorder scale and the COVID-19 student stress questionnaire, respectively. In total, 56.8% of the sample often or always found it difficult to attend distance-learning activities. The main difficulty referred to was connection problems (75.7%). The mean generalized anxiety disorder score was 9.46 (SD = 5.4) and appeared almost homogeneous among students across the three years of study; most of the students showed mild (35%) to moderate (27%) levels of anxiety; 19% had severe anxiety. The overall COVID-19 stressor mean scores were 11.40 (SD = 6.50); the majority of the students (47.1%) showed scores indicative of moderate stress, 25% showed low stress levels, and 28% showed high-stress levels. Improvements and investments are needed to ensure high-quality distance learning, adequate connectivity, technical support for students, as well as strategies to promote mental health.

Objectives: The aim of this study was to assess whether it was feasible to conduct a full trial comparing a tailored versus a standardised exercise programme for patients with shoulder subacromial pain., Design: Two-arm, patient-blinded and assessor-blinded, randomised controlled feasibility trial., Methods: Twenty-eight participants with shoulder subacromial pain were randomly allocated into one of two intervention groups-tailored or standardised exercise. Participants in the tailored exercise programme received exercises and manual therapy tailored to their scapular and shoulder movement impairments. Participants in the standardised exercise programme received progressive strengthening exercise. The primary outcome measures were (1) the participant recruitment rate; (2) the proportion of participants enrolled from the total number screened; (3) drop-out rates; and (4) adherence to the rehabilitation programme. Other outcome measures were: (5) pain levels; (6) Patient-Specific Functional Scale; (7) the Shoulder Pain and Disability Index; and (8) pain self-efficacy. We compared changes in pain and disability scores between groups using a repeated mixed-model analysis of variance. Since this is a feasibility study, we did not adjust alpha for multiple comparisons, and considered 75% CI as the probability threshold at 3-month follow-up. Health-related quality of life was assessed using the Short-Form 12 and quality-adjusted life years (QALYs) were estimated., Results: The recruitment rate was 3 participants per month, the proportion of participants enrolled was 23%, the drop-out rate was 14% and the overall adherence to the rehabilitation programme was 85%. No between-group differences were found for most outcome measures. Adverse events (n=2, only in the tailored group) were minor in nature and included skin injury or pain following taping., Conclusions: Our feasibility trial showed that additional strategies are required for improving recruitment, enrolment and minimising drop-out of participants into the trial and making it feasible to conduct a full trial., Trial Registration Number: ANZCTR: 12617001405303., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Elastic knee sleeves are often worn following anterior cruciate ligament reconstruction (ACLR) but their effects on movement patterns are unclear., Aim: To determine the immediate and six-week effects of wearing a knee sleeve on biomechanics of the knee during a step-down hop task., Methods: Using a cross-over design, we estimated sagittal plane knee kinematics and kinetics and stance duration during a step-down hop for 31 participants (age 26.0 [SD 6.6] years, 15 women) after ACLR (median 16 months post-surgery) with and without wearing a knee sleeve. In a subsequent randomised clinical trial, participants in the 'Sleeve Group' (n = 9) then wore the sleeve for 6 weeks at least 1 h daily, while a 'Control Group' (n = 9) did not wear the sleeve. We used statistical parametric mapping to compare (1) knee flexion/extension angle and external flexion/extension moment trajectories between three conditions at baseline (uninjured side, unsleeved injured side and sleeved injured side); (2) within-participant changes for knee flexion angles and external flexion/extension moment trajectories from baseline to follow-up between groups. We compared discrete flexion angles and moments, and stance duration between conditions and between groups., Results: Without sleeves, knee flexion was lower for the injured than the uninjured sides during mid-stance phase. When wearing the sleeve on the injured side, knee flexion increased during the loading phase of the stance phase. Discrete initial and peak knee flexion angles increased by (mean difference, 95% CIs) 2.7° (1.3, 4.1) and 3.0° (1.2, 4.9), respectively, when wearing the knee sleeve. Knee external flexion moments for the unsleeved injured sides were lower than the uninjured sides for 80% of stance phase, with no change when sleeved. The groups differenced for within-group changes in knee flexion trajectories at follow-up. Knee flexion angles increased for the Control group only. Stance duration decreased by 22% for the Sleeve group from baseline to follow-up (-89 ms; -153, -24) but not for the Controls., Conclusions: Application of knee sleeves following ACLR is associated with improved knee flexion angles during hop landing training. Longer term (daily) knee sleeve application may help improve hop stance duration, potentially indicating improved hop performance., Trial Registration: The trial was prospectively registered with the Australia New Zealand Clinical Trials Registry No: ACTRN12618001083280, 28/06/2018. ANZCTR., (© 2022. The Author(s).)

Objective: To investigate the dynamics of phylogenetic transmission clusters involving immigrants of Portuguese Speaking Countries living in Portugal., Design/methods: We included genomic sequences, sociodemographic and clinical data from 772 HIV migrants followed in Portugal between 2001 and 2017. To reconstruct HIV-1 transmission clusters, we applied phylogenetic inference from 16 454 patients: 772 migrants, 2973 Portuguese and 12 709 global controls linked to demographic and clinical data. Transmission clusters were defined using: clusters with SH greater than 90% (phylogenetic support), genetic distance less than 3.5% and clusters that included greater than 66% of patients from one specific geographic origin compared with the total of sequences within the cluster. Logistic regression was performed to assess factors associated with clustering., Results: Three hundred and six (39.6%) of migrants were included in transmission clusters. This proportion differed substantially by region of origin [Brazil 54% vs. Portuguese Speaking African Countries (PALOPs) 36%, P < 0.0001] and HIV-1 infecting subtype (B 52%, 43% subtype G and 32% CRF02&#95;AG, P < 0.001). Belonging to a transmission cluster was independently associated with treatment-naive patients, CD4+ greater than 500, with recent calendar years of sampling, origin from PALOPs and with seroconversion. Among Brazilian migrants - mainly infected with subtype B - 40.6% were infected by Portuguese. Among migrants from PALOPs - mainly infected with subtypes G and CFR02&#95;AG - the transmission occurred predominantly within the migrants' community (53 and 80%, respectively)., Conclusion: The acquisition of infection among immigrants living in Portugal differs according to the country of origin. These results can contribute to monitor the HIV epidemic and prevent new HIV infections among migrants., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc.)

Introduction: Resistant hypertension (RHT) is a phenotype of hypertension that is challenging to manage by medications alone. While high grade evidence supports physical activity (PA) and exercise to reduce blood pressure (BP) in hypertension, it is unclear whether these are also effective for RHT., Aims: To determine the quality of evidence for the effectiveness of PA and exercise and the change of magnitude of 24-hour ambulatory BP (24hABP) in adults with RHT., Methods: Scopus, MEDLINE, CINHAL, Web of Science, Embase and SPORTDiscus databases were searched. Cochrane risk of bias tools, Review Manager and Grading of the Recommendation Assessment, Development and Evaluation were used to assess the methodological quality, the clinical heterogeneity and quality of the evidence., Results: Four studies comprising 178 individuals in total were included. A meta-analysis with random effects showed decreased 24hABP. The experimental group demonstrated grater mean differences for 24hABP following the PA and exercise programmes (systolic - 9.88 mmHg, 95% CI: - 17.62, - 2.14, I 2  = 72%, p = 0.01; diastolic - 6.24 mmHg, 95% CI: - 12.65, 0.17, I 2  = 93%,p = 0.06); and aerobic exercise (systolic - 12.06 mmHg, 95% CI: - 21.14, - 2.96, I 2  = 77%, p = 0.009, diastolic - 8.19 mmHg, 95% CI: - 14.83, - 1.55, I 2  = 92% ,p = 0.02). In the included studies, indirectness and publication bias were 'moderate' while inconsistency and imprecision were rated as 'low'. Thus, the overall quality of the evidence was considered to be 'low'., Conclusions: Low certainty evidence suggests that PA and aerobic exercise added to usual care may be more effective in 24hABP reduction in RHT than usual care alone., Registration: PROSPERO-2019 CRD42019147284 (21.11.2019)., (© 2022. The Author(s).)

Background: Altered movement patterns have been proposed as an etiological factor for the development of musculoskeletal pain. Fatigue influences upper limb kinematics and movement performance which could extend to the contralateral limb and potentially increasing risk of injury. The aim of this study was to investigate the impact of fatigue at the dominant arm on the contralateral upper limb movement., Methods: Forty participants were randomly assigned to one of two groups: Control or Fatigue Group. All participants completed a reaching task at the baseline and post-experimental phase, during which they reached four targets with their non-dominant arm in a virtual reality environment. Following the baseline phase, the Fatigue Group completed a shoulder fatigue protocol with their dominant arm only, while the Control Group took a 10-minute break. Thereafter, the reaching task was repeated. Upper limb and trunk kinematics (joint angles and excursions), spatiotemporal (speed and accuracy) and surface electromyographic (sEMG) activity (sEMG signal mean epoch amplitude and median frequency of the EMG power spectrum) were collected. Two-way repeated-measures ANOVA were performed to determine the effects of Time, Group and of the interaction between these factors., Results: There was a significant Time x Group interaction for sternoclavicular elevation range of motion (p = 0.040), movement speed (p = 0.043) and accuracy (p = 0.033). The Fatigue group showed higher contralateral sternoclavicular elevation and increased movement error while experiencing fatigue in the dominant arm. Moreover, the Control group increased their speed during the Post-experimental phase compared to baseline (p = 0.043), while the Fatigue group did not show any speed improvement. There was no EMG sign of fatigue in any of the muscles evaluated., Conclusion: This study showed that fatigue at the dominant shoulder impacts movement at the contralateral upper limb. Such changes may be a risk factor for the development of shoulder pain in both the fatigued and non-fatigued limbs., Competing Interests: The authors have declared that no competing interests exist.

Context: Altered knee joint mechanics may be related to quadriceps muscle strength, time since surgery, and sex following anterior cruciate ligament reconstruction (ACLR). The aim of this study was to investigate the association between knee moments, with participant-related factors during stair navigation post-ACLR., Design: Cross-sectional study., Methods: A total of 30 participants (14 women) with ACLR, on average 7.0 (SD 4.4) years postsurgery were tested during stair ascent and descent in a gait laboratory. Motion capture was conducted using a floor-embedded force plate and 11 infrared cameras. Quadriceps concentric and eccentric muscle strength was measured with an isokinetic dynamometer at 60°/s, and peak torques recorded. Multiple regression analyses were performed between external knee flexion and adduction moments, respectively, and quadriceps peak torque, sex, and time since ACLR., Results: Higher concentric quadriceps strength and female sex accounted for 55.7% of the total variance for peak knee flexion moment during stair ascent (P < .001). None of the independent variables accounted for variance in knee adduction moment (P = .698). No significant associations were found for knee flexion and adduction moments during for stair descent., Conclusion: Higher quadriceps concentric strength and sex explains major variance in knee flexion moments during stair ascent. The strong association between muscle strength and external knee flexion moments during stair ascent indicate rehabilitation tailored for quadriceps may optimize knee mechanics, particularly for women.

Primary Objective: To describe the collaborative development of a New Zealand Rugby Concussion Assessment (NZRCA) for primary care and to provide normative baseline data from a representative group of high school rugby players., Methods: This study, conducted over the 2018 and 2019 community rugby season where players were baseline tested during the pre- or start of season period., Results: Data were collected from 1428 players (males n = 1121, females n = 307) with a mean age of 15.9 ± 1.4 years. The mean ± SD symptom severity score was 11.3 ± 8.6, the mean number of endorsed symptoms was 8.5 ± 5.3 and the percentage feeling "normal" was 80.2 ± 15.3%. Only 5.3% of players reported no symptoms at baseline. The most common reported were: 'distracted easily' (72.5%), 'forgetful' (68.5%), and 'often tired' (62.6%). None of the participants achieved a perfect score for the SAC50. The majority of participants (89.7%) passed the tandem gait test with a time of 12.2 ± 1.7 seconds. Age, gender, and ethnicity were associated with NZRCA performance; albeit weakly., Conclusion: This study provides normative reference values for high-school rugby players. These data will aid healthcare providers in their identification of suspected concussion in the absence of individualized baselines.

Objective: Neurofilaments are the major scaffolding proteins for the neuronal cytoskeleton, and variants in NEFH have recently been described to cause axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC)., Methods: In this large observational study, we present phenotype-genotype correlations on 30 affected and 3 asymptomatic mutation carriers from eight families., Results: The majority of patients presented in adulthood with motor-predominant and lower limb-predominant symptoms and the average age of onset was 31.0±15.1 years. A prominent feature was the development of proximal weakness early in the course of the disease. The disease progressed rapidly, unlike other Charcot-Marie-Tooth disease (CMT) subtypes, and half of the patients (53%) needed to use a wheelchair on average 24.1 years after symptom onset. Furthermore, 40% of patients had evidence of early ankle plantarflexion weakness, a feature which is observed in only a handful of CMT subtypes. Neurophysiological studies and MRI of the lower limbs confirmed the presence of a non-length-dependent neuropathy in the majority of patients.All families harboured heterozygous frameshift variants in the last exon of NEFH , resulting in a reading frameshift to an alternate open reading frame and the translation of approximately 42 additional amino acids from the 3' untranslated region (3'-UTR)., Conclusions: This phenotype-genotype study highlights the unusual phenotype of CMT2CC, which is more akin to spinal muscular atrophy rather than classic CMT. Furthermore, the study will enable more informative discussions on the natural history of the disease and will aid in NEFH variant interpretation in the context of the disease's unique molecular genetics., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.)

Immunotherapy with immune checkpoint inhibitors (ICIs) has improved the prognosis of many cancers; a combination of nivolumab (anti-programmed cell death protein 1) and ipilimumab (anti-cytotoxic T-lymphocyte-associated protein 4) is approved as first-line therapy for advanced melanoma, with objective responses obtained in more than half of patients. However, this combination is associated with a high rate of immune-related adverse events, which are often severe and multiple. Neurological immune-related adverse events are rare but feared because they can be life-threatening, their diagnosis and management are challenging, and patients can have irreversible sequelae. We reported a case of a young patient treated by nivolumab and ipilimumab combination for metastatic melanoma. Severe dysphagia with regurgitations, major weight loss, uveitis, and vitiligo occurred after 3 infusions of nivolumab and ipilimumab. Magnetic resonance imaging and positron emission tomography scan showed complete remission of melanoma. The endoscopic examination did not find any digestive toxicity. Esophageal manometry revealed achalasia. This was associated with mydriasis, pathologic deep breath test, and alteration of the cutaneous sympathetic response on electromyogram, which was consistent with autonomic neuropathy. This rare etiology of atypical vomiting under ICI should be known by prescribers, as ICI prescription is widening in many new cancers., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)