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Electrophysiological alterations of the neuromuscular junction (NMJ) and motor unit potential (MUP) with unloading are poorly studied. We aimed to investigate these aspects and the underlying molecular mechanisms with short‐term unloading and active recovery (AR). Eleven healthy males underwent a 10‐day unilateral lower limb suspension (ULLS) period, followed by 21‐day AR based on resistance exercise. Quadriceps femoris (QF) cross‐sectional area (CSA) and isometric maximum voluntary contraction (MVC) were evaluated. Intramuscular electromyographic recordings were obtained during 10% and 25% MVC isometric contractions from the vastus lateralis (VL). Biomarkers of NMJ molecular instability (serum c‐terminal agrin fragment, CAF), axonal damage (neurofilament light chain) and denervation status were assessed from blood samples and VL biopsies. NMJ and ion channel transcriptomic profiles were investigated by RNA‐sequencing. QF CSA and MVC decreased with ULLS. Increased CAF and altered NMJ transcriptome with unloading suggested the emergence of NMJ molecular instability, which was not associated with impaired NMJ transmission stability. Instead, increased MUP complexity and decreased motor unit firing rates were found after ULLS. Downregulation of ion channel gene expression was found together with increased neurofilament light chain concentration and partial denervation. The AR period restored most of these neuromuscular alterations. In conclusion, the human NMJ is destabilized at the molecular level but shows functional resilience to a 10‐day unloading period at least at relatively low contraction intensities. However, MUP properties are altered by ULLS, possibly due to alterations in ion channel dynamics and initial axonal damage and denervation. These changes are fully reversed by 21 days of AR. Key points We used integrative electrophysiological and molecular approaches to comprehensively investigate changes in neuromuscular integrity and function after a 10‐day unilateral lower limb suspension (ULLS), followed by 21 days of active recovery in young healthy men, with a particular focus on neuromuscular junction (NMJ) and motor unit potential (MUP) properties alterations. After 10‐day ULLS, we found significant NMJ molecular alterations in the absence of NMJ transmission stability impairment. These findings suggest that the human NMJ is functionally resilient against insults and stresses induced by short‐term disuse at least at relatively low contraction intensities, at which low‐threshold, slow‐type motor units are recruited. Intramuscular electromyography analysis revealed that unloading caused increased MUP complexity and decreased motor unit firing rates, and these alterations could be related to the observed changes in skeletal muscle ion channel pool and initial and partial signs of fibre denervation and axonal damage. The active recovery period restored these neuromuscular changes.

Deletions of the distal part of the 6q chromosome have not been associated with a clearly distinctive and recognizable phenotype. In order to determine if a "6q terminal deletion syndrome" could be delineated, we compared the phenotype of two new cases with those patients reported in literature presenting with a similar deletion. Cases with more complex karyotypes were excluded. The deletion in our patients was accurately analyzed by loss of heterozygosity (LOH) and fluorescence in situ hybridization (FISH) with a panel of probes located around the putative breakpoint. Interestingly, the breakpoints were located in 6q26 in both our patients, distally to clone RP11-150P20 and proximally to clone RP11-152P19, with a deletion size of approximately 8 Mb. The breakpoints fall within the fragile site FRA6E. From a careful evaluation of the selected patients, a common phenotype emerged, including psychomotor retardation, hypotonia, seizures, short neck, and typical facial anomalies, along with nonspecific anomalies. While these features are shared by other chromosome syndromes and are not sufficient on their own for a clinical diagnosis, when considered together, the pattern can allow the identification of the "6q terminal deletion syndrome." Moreover, the potential role of FRA6E in generating these deletions is suggested.

ObjectivesThe mechanisms of hamstring strain injuries (HSIs) in professional Rugby Union are not well understood. The aim of this study was to describe the mechanisms of HSIs in male professional Rugby Union players using video analysis.MethodsAll time-loss acute HSIs identified via retrospective analysis of the Leinster Rugby injury surveillance database across the 2015/2016 to 2017/2018 seasons were considered as potentially eligible for inclusion. Three chartered physiotherapists (analysts) independently assessed all videos with a consensus meeting convened to describe the injury mechanisms. The determination of the injury mechanisms was based on an inductive process informed by a critical review of HSI mechanism literature (including kinematics, kinetics and muscle activity). One of the analysts also developed a qualitative description of each injury mechanism.ResultsSeventeen acute HSIs were included in this study. Twelve per cent of the injuries were sustained during training with the remainder sustained during match-play. One HSI occurred due to direct contact to the injured muscle. The remainder were classified as indirect contact (ie, contact to another body region) or non-contact. These HSIs were sustained during five distinct actions—‘running’ (47%), ‘decelerating’ (18%), ‘kicking’ (6%), during a ‘tackle’ (6%) and ‘rucking’ (18%). The most common biomechanical presentation of the injured limb was characterised by trunk flexion with concomitant active knee extension (76%). Fifty per cent of cases also involved ipsilateral trunk rotation.ConclusionHSIs in this study of Rugby Union were sustained during a number of playing situations and not just during sprinting. We identified a number of injury mechanisms including: ‘running’, ‘decelerating’, ‘kicking’, ‘tackle’, ‘rucking’ and ‘direct trauma’. Hamstring muscle lengthening, characterised by trunk flexion and relative knee extension, appears to be a fundamental characteristic of the mechanisms of acute HSIs in Rugby Union.