Widespread systemic embolization with isolated tricuspid valve endocarditis

Concurrent systemic and pulmonary septic emboli from isolated right-sided infective endocarditis are rare. One mechanism described is that of intrapulmonary shunting. We describe a case of widespread pulmonary and systemic septic embolization with sequelae in an intravenous drug user with concomitant chronic hepatitis C infection and discuss possible mechanisms involved in the pathogenesis.     

Surgical outcome of malignant primary bone tumours in elderly and very elderly patients

Purpose

Elderly patients with bone cancer are thought to have poorer access to specialist treatment and therefore suboptimal outcome. The aim of this study was to review the clinical course, outcome and survivorship in geriatric patients with primary bone tumours.

Methods

We analysed 66 consecutive patients aged 60 years or older who were surgically treated for primary bone tumours between 1997 and 2012. The cohort was divided into two groups: elderly (60–70 years, n?=?31) and very elderly (>70 years, n?=?35). Clinicopathologic characteristics, treatment, outcome and survival were analysed. The mean follow up was 58.5 months (range two to 188).

Results

There were 51 chondrosarcomas (grade I, n?=?29; grade II, n?=?15; grade III, n?=?7), ten osteosarcomas and four of other primary malignant bone tumours. Twenty-three prostheses for joint reconstruction were implanted; procedures involving the transposition of free vascularised flaps were performed in six patients. Seven patients had amputation as a primary procedure, four in the elderly and three in the very elderly group. Local recurrence was recorded in eight cases (12.1 %). Secondary surgery was performed in nine (13.6 %) patients (six recurrences, two haematomas, one deep infection). At final follow up, 77.3 % of patients were alive (elderly 83.9 %, very elderly 71.4 %) and there was no significant difference in the five-year survival rates between both groups.

Conclusions

Elderly and very elderly patients with bone tumours receive satisfactory treatment and achieve good surgical outcome. Treatment decisions in the geriatric population should not be influenced by age alone.     

Flaps, slings, and other things: CT after reconstructive surgery--expected changes and detection of complications

OBJECTIVE: This article will discuss the typical CT appearance of myocutaneous surgically placed flaps as well as some frequently encountered complications of this surgery. We will discuss the appearance of relatively new, but increasingly encountered, nonnative materials used in reconstructive surgery, such as spacers, bulking agents, hemostatic agents, and other reconstructive materials. CONCLUSION: Oncologic surgery often requires reconstruction using myocutaneous flaps. Therefore, an understanding of the type of reconstruction performed is important for the accuracy of postoperative radiologic interpretation to recognize presence of a flap to avoid misdiagnosis of tumor recurrence.     

Disease severity and knee extensor force in knee osteoarthritis: data from the Osteoarthritis Initiative

Objective

To determine whether the method of disease severity measurement influences the magnitude of knee extensor force deficits in knee osteoarthritis (OA).

Methods

Data from the Osteoarthritis Initiative (n = 659) were analyzed. Knee extensor force was assessed with isometric contractions. Clinical severity was measured with the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). Patients were stratified into tertiles of severity (i.e., moderate, mild, and severe OA) based on the lowest, middle, and highest WOMAC scores, respectively. Kellgren/Lawrence (K/L) grading was used to assess radiographic severity of the tibiofemoral compartment and patients were again stratified into mild (K/L grade <2), moderate (K/L grade 2), and severe (K/L grade >2) knee OA.

Results

When stratifying with the WOMAC, force was significantly lower in the severe group compared to the mild (～18% lower; P < 0.001) and moderate groups (～9% lower; P = 0.03), and in the moderate group compared to the mild group (～10% lower; P = 0.03). When stratifying with K/L grade, small nonsignificant differences were observed in the severe (～7% lower; P = 0.19) and moderate groups (～8% lower; P = 0.08) compared to the mild group. Large intragroup variability was observed when comparing WOMAC scores across radiographic severity (coefficients of variation were 79.3%, 74.6%, and 61.6% for K/L grade <2, K/L grade 2, and K/L grade >2, respectively).

Conclusion

The method of disease severity stratification influences the magnitude of knee extensor force deficits because no difference in force between disease subgroups was observed when stratifying with K/L grade. Furthermore, there was large variability in the WOMAC score within each radiographic subgroup, highlighting the limitations in using radiographic measures to reflect symptom severity.     

Gene‐specific features enhance interpretation of mutational impact on acid α‐glucosidase enzyme activity

We present a computational model for predicting mutational impact on enzymatic activity of human acid α‐glucosidase (GAA), an enzyme associated with Pompe disease. Using a model that combines features specific to GAA with other general evolutionary and physiochemical features, we made blind predictions of enzymatic activity relative to wildtype human GAA for >300 GAA mutants, as part of the Critical Assessment of Genome Interpretation 5 GAA challenge. We found that gene‐specific features can improve the performance of existing impact prediction tools that mostly rely on general features for pathogenicity prediction. Majority of the poorly predicted mutants that lower wildtype GAA enzyme activity occurred on the surface of the GAA protein. We also found that gene‐specific features were uncorrelated with existing methods and provided orthogonal information for interpreting the origin of pathogenicity, particular in variants that are poorly predicted by existing general methods. Specific variants in GAA, when investigated in the context of its protein structure, suggested gene‐specific information like the disruption of local backbone torsional geometry and disruption of particular sidechain‐sidechain hydrogen bonds as some potential sources for pathogenicity.