The Hermansky-Pudlak syndrome (HPS) is a collection of autosomal-recessive disorders characterised by tyrosinase-positive oculocutaneous albinism (OCA), bleeding diatheses and, in selected individuals, early-onset accelerated pulmonary fibrosis, neutropaenia and granulomatous colitis. We describe a young man who presented following a self-directed literature review prompted by severe bleeding complications following minor surgical and dental procedures in the context of OCA. HPS was clinically suspected, with subsequent genetic testing confirming biallelic mutations in the gene. Of interest, this is the only described HPS type 1 patient with two different (compound heterozygote) splice site variants in In addition to detailing a novel genetic result and outlining the progressive clinical course of disease in this case, we discuss the management of HPS, the prognostic value of subtype analysis and the technical difficulties relating to transplantation in the case of HPS-associated advanced pulmonary fibrosis. This case also illustrates the concept of lung phenocopy relationships and the potential for elucidating the pathogenesis of more common pulmonary disorders by studying genetic diseases that result in similar phenotypes. Furthermore, it re-emphasises the importance of the patient voice, particularly with regard to complex diagnoses and rare diseases.

Camogie is one of Ireland’s most popular sports, and the full contact nature presents a high potential for injury. This study aims to present the first overview of elite and nonelite camogie injuries by examining adult players’ self-reported worst injuries from one season. At least one injury was sustained by 88.2% of camogie players during the previous season and 60.0% sustained 2+ injuries. Knee and ankle ligaments, hamstring strains and hand/fingers/thumb fractures were key injuries identified, which can lead to substantive health and economic impacts. Further research to establish the mechanism of these injuries is required in order to start shaping potential measures for their prevention.

Purpose The Attune® total knee arthroplasty system was introduced in 2013 to address lingering issues of patient dissatisfaction. However, recent literature reports concerns of early tibial tray debonding. The aim of this study was to compare the incidence of radiolucent lines, survivorship and patient reported outcome-measures between the Attune® system and the well-established Triathlon® system. Methods This retrospective database review was conducted at a single institution in Cork, Ireland. All primary Attune® (N = 445) and Triathlon® (N = 285) systems implanted between 2015 and 2016 were reviewed. Radiolucent lines were assessed for those with a minimum two-year radiological follow-up (Attune® = 338; Triathlon® = 231). X-rays were taken post op, at 6 months, 2 years and 5 years. Radiolucent lines were documented using the Modern Knee Society Radiographic System. Five-year survival was assessed using Kaplan–Meier analysis with the Log Rank method to determine statistical significance. The Oxford Knee Score and EQ-5D-5L, were collected pre-op, at 6 months, 2 years and 5 years post-operatively and compared using the Kruskal–Wallis Test. Results The Attune® had a higher proportion of radiolucent lines at the tibial tray [87.1% (54/62) vs 61.4% (27/44); p = 0.001] and at the implant–cement interface [62.9% (39/62) vs 43.2% (19/44); p = 0.02]. Conversely, the Triathlon® had a higher proportion AT the femur [38.6% (17/44) vs 12.9% (8/62); p = 0.001] and at the cement–bone interface [56.8% (25/44) vs 37.1% (23/62); p = 0.02]. The overall frequency of radiolucent lines was similar in both the Attune® and Triathlon® groups [17.8%, (60/338) vs 17.7%, (41/231); p = 0.49]. There was no difference in revision-free survival analysis at 5 years (Attune® 97.8% vs Triathlon® 95.8%; p = 0.129). The Attune® performed better at 5 years in the Oxford Knee Score [Attune® = 42.6 (SD 5.2) vs Triathlon® = 41 (SD 6.4); p = 0.001] and in the EQ-5D [Attune® = 0.773 (SD 0.187) vs Triathlon® = 0.729 (SD 0.218); p = 0.013]. There was no difference at 5 years in the EQ-VAS [Attune® = 80.4 (SD 13.7) vs Triathlon® = 78.5 (SD 15.3); p = 0.25]. Conclusion The Attune® system exhibited a higher incidence of  radiolucent lines at the tibial tray. However, this did not lead to decreased survivorship at medium term follow-up compared to the Triathlon®. Furthermore, improvements in patient reported outcomes modestly favoured the Attune® system. Level of evidence III.