The association of neuroaxonal dystrophy and osteopetrosis is reported in 2 siblings born to non-consanguineous parents. The 1 st child was diagnosed as having infantile osteopetrosis shortly after delivery. A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months. Post-mortem examination showed pneumonia and bony sclerosis. Neuropathological examination revealed cerebral atrophy, ventricular dilation, absence of the corpus callosum, and a small hippocampus. Neuroaxonal spheroids were found in hippocampus, basal ganglia, pons, medulla, spinal cord, cranial nerves, cerebellum, and peripheral nerves. Ultrastructural examination revealed membranous cytoplasmic bodies and electron-dense granular deposits within the neuroaxonal spheroids as well as the soma of neurons. The 2nd child was delivered at 36 weeks of gestation because of intrauterine fetal distress. The diagnosis of osteopetrosis and partial agenesis of the corpus callosum was made shortly after delivery. The child died at 1 month without an autopsy. There are rare cases reported previously with the association of neuroaxonal dystrophy and osteopetrosis. We review these cases and compare them with ours.

A narrow (≤ 2 mm) surgical resection margin does not result in an increase in LR compared to a surgical resection margin 2 mm in BCT for early stage duct carcinoma and does not warrant re-excision.

Translating injury prevention research into practice has been challenging, which may be due to a poor understanding of the contextual factors influencing the occurrence of injury. Coaches are key figure in sporting environments and hold pivotal roles in preventing injury. Therefore, the aim of this study was to investigate the attitudes of field hockey coaches to injury and injury prevention. Thirteen field hockey coaches from the amateur Irish Hockey League were interviewed. Reflexive thematic analysis led to three general dimensions comprised five higher-order themes, categorised from 16 lower-order themes. Coaches had positive beliefs regarding the benefits of injury prevention over injury management. However, they lacked the necessary knowledge and skills to successfully implement injury prevention strategies with players. Coaches recognised the importance of empowering players to self-manage training loads to promote injury prevention but acknowledged the need to protect younger players from increased loads. Many barriers to injury prevention were not controllable by coaches including fixture congestion and poor structuring of the sport’s domestic calendar. While coaches can play a key role in the implementation of injury prevention strategies, there is also a requirement to examine how system level barriers to injury prevention can be reduced.

No abstract