Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study.

Atraumatic subtrochanteric and diaphyseal (atypical) femoral fractures are a rare, but important adverse event in patients treated with potent anti-resortive agents. The mechanisms involved are unknown and particularly the association with genetic variants has not been explored. The aim of the study was to identify rare genetic variants that could be associated with the occurrence of these fractures. We performed a genome-wide analysis of up to 300,000 variants, mainly distributed in gene coding regions, in 13 patients with atypical femoral fractures and 268 control women, either healthy or with osteoporosis. Twenty one loci were more frequent in the fracture group, with a nominal p value between 1 × 10(-6) and 2.5 × 10(-3). Most patients accumulated two or more allelic variants, and consequently the number of risk variants was markedly different between patients and controls (p = 2.6 × 10(-22)). The results of this pilot study suggest that these fractures are polygenic and are associated with the accumulation of changes in the coding regions of several genes.

Predictors of outcomes after internal fixation of periprosthetic femoral hip fractures Subgroup analysis of the peri-implant and peri-prosthetic fractures Spanish registry (PIPPAS).

PURPOSE: To identify risk factors predisposing patients to poor outcomes after fixation of periprosthetic hip fractures around femoral stems. METHODS: Prospective multicentre cohort study of fractures around a hip replacement stem managed by internal fixation. The primary outcome was one-year mortality, while secondary outcomes were local complications and healthcare burden-related outcomes (nursing facility utilization and hospital length of stay). RESULTS: One-year mortality was 16.2%. Age-adjusted Charlson Comorbidity Index score (OR=1.17; 95%CI=1.03-1.33)), Pfeiffer Short Portable Mental Status Questionnaire (SPMSQ) score (OR=1.16; 1.06-1.28), prosthetic dysfunction (OR=1.90; 1.00-3.61), and postoperative medical complications (OR=1.97; 1.06-3.68) were predictors of mortality. Patients with prior prosthetic dysfunction, lower Pfeiffer SPMSQ scores, Vancouver A fractures, and fractures fixed only using cerclages were at higher risk of local complications, which occurred in 9.3% of cases. Medical (OR=1.81; 1.05-3.13) and local complications (OR=5.56; 2.42-3.13) emerged as consistent risk factors for new institutionalization. Average hospitalization time was 13.9±9.2 days. Each day of fixation delay led to an average 1.4-day increase in total hospitalization. CONCLUSION: Frail periprosthetic hip-fracture patients with poorer functional status, dysfunctional replacements, and postoperative complications are at increased risk of mortality. Postoperative complications are more common in patients with dysfunctional arthroplasties, Vancouver A fractures, and fixation using cerclages alone. Postoperative complications were the most consistent predictor of higher healthcare resource utilization.

[Study on the improvement of trauma patient care: TRAUMACAT project]. / Estudio para la mejoría de la atención hospitalaria inicial del paciente politraumatizado: proyecto TRAUMACAT.

UNLABELLED: Multiple injuries are a major source of morbidity and mortality in young people. The aim of this study was to evaluate the effect of a collaborative strategy to improve the implementation of six clinical indicators, recognized internationally, for the treatment of trauma patient. Prospective, multicentre, pre-and post-intervention study, in ten referral hospitals, offering polytrauma care in Catalonia. 378 patients were recruited for the pre-intervention study and 501 for the post-intervention study. All patients had a history of high-energy trauma requiring admission to critical or semi-critical care unit. INTERVENTION: collaborative strategy aimed at participating professionals, involving the creation of a panel of experts, appointment of monitors to encourage improvements at each centre, training, distribution of information, material and meetings, to exchange impressions. MAIN OUTCOME MEASURES: frequency and characteristics of trauma and percentage of compliance with clinical indicators. Study of 879 trauma patients. The injury mechanism was overall blunt trauma, in both pre and post intervention phases. The medium ISS (injury severity score) was 21 ± 12,8 and the medium TRISS (trauma and injury severity score) was 26,4 ± 11,4. We didn't find differences between both study phases, in relation to the severity of injury. The mortality rate was 11.5%. We observed significant improvement in the performance of chest X-rays (45% vs. 62%) and pelvis X-rays (27% vs. 62%) in the trauma box and in the fixation of the pelvis in patients with a fracture at this site (24% vs. 49%). The use of diagnostic radiology in hemodynamically unstable patients remained low (33%). The collaborative strategy was effective in improving certain indicators of clinical management.