Background Repeated haemarthroses affect approximately 90% of patients with severe haemophilia and lead to progressive arthropathy, which is the main cause of morbidity in these patients. Diagnostic imaging can detect even subclinical arthropathy changes and may impact prophylactic treatment. Magnetic resonance imagining (MRI) is generally the gold standard tool for precise evaluation of joints, but it is not easily feasible in regular follow-up of patients with haemophilia. The development of the standardized ultrasound (US) protocol for detection of early changes in haemophilic arthropathy (HEAD-US) opened new perspectives in the use of US in management of these patients. The HEAD-US protocol enables quick evaluation of the six mostly affected joints in a single study. The aim of this prospective study was to determine the diagnostic accuracy of the HEAD-US protocol for the detection and quantification of haemophilic arthropathy in comparison to the MRI. Patients and methods The study included 30 patients with severe haemophilia. We evaluated their elbows, ankles and knees (overall 168 joints) by US using the HEAD-US protocol and compared the results with the MRI using the International Prophylaxis Study Group (IPSG) MRI score. Results The results showed that the overall HEAD-US score correlated very highly with the overall IPSG MRI score (r = 0.92). Correlation was very high for the evaluation of the elbows and knees (r ≈ 0.95), and slightly lower for the ankles (r ≈ 0.85). Conclusions HEAD-US protocol proved to be a quick, reliable and accurate method for the detection and quantification of haemophilic arthropathy.

A simple bone cyst (SBC) is a benign bone lesion of unknown etiology. It can be differentiated from an aneurysmal bone cyst (ABC) by radiologic and histopathologic features, as well as by the absence of fusions of the USP6 gene characteristic of an ABC. In an attempt to differentiate between ABC and SBC in a recurrent bone cyst, we performed targeted RNA sequencing and found an EWSR1-NFATC2 fusion and no fusion of the USP6 gene. We subsequently analyzed additional 10 cysts, consistent with SBCs after radiologic-pathologic correlation, for the presence of an NFATC2 gene fusion, by targeted RNA sequencing, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing, and fluorescent in situ hybridization. Targeted RNA sequencing showed a FUS-NFATC2 fusion in 4 of 11 SBCs and an EWSR1-NFATC2 fusion in 2 of 11 SBCs. No fusion was identified in 3 SBCs and the analysis was not successful in 2 SBCs because of the low quantity or poor quality of isolated RNA. All the 6 fusions detected by targeted RNA sequencing were confirmed by RT-PCR and Sanger sequencing, and 5 of the 6 fusions by fluorescent in situ hybridization. An additional FUS-NFATC2 fusion was identified by RT-PCR, Sanger sequencing, and fluorescent in situ hybridization in 1 of the 3 cases negative for fusions by targeted RNA sequencing. At least a large subset of SBCs represents cystic neoplasms characterized by FUS-NFATC2 or EWSR1-NFATC2 fusions, which also define a group of distinct, rare “Ewing-like” sarcomas that predominantly arise in long bones. Our results provide additional evidence of the existence of benign lesions with FUS-NFATC2 or EWSR1-NFATC2 fusions. Although they can recur locally in a nondestructive manner, their clinical course and possible relation to sarcoma with EWSR1-NFATC2 or FUS-NFATC2 fusion remains to be elucidated.

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Introduction Progressive arthropathy is the main cause of morbidity in patients with severe haemophilia. Diagnostic imaging can detect even subclinical arthropathy and impact prophylactic treatment. However, in most clinical settings the regular joint evaluation and follow‐up are based on clinical evaluation and patient's personal reporting of problems, while diagnostic imaging is not regularly employed. Aim The aim of our prospective study was to assess how ultrasound (US), clinical examination, patient's subjective assessment and certain laboratory biomarkers correlate with magnetic resonance imaging (MRI) for detection and evaluation of haemophilic arthropathy in order to determine which tool is the most reliable. Methods The study included 30 patients with severe haemophilia (age range 16‐49 years). MRI (IPSG), US (HEAD‐US), clinical examination (HJHS 2.1) and patient's subjective assessment of elbows, knees and ankles were performed; additionally, blood samples for laboratory analysis were taken (s‐25‐OH vitamin D, s‐ferritin, s‐C‐terminal telopeptide of type I collagen, s‐N‐terminal propeptide of type I procollagen and s‐cartilage oligomeric matrix protein). MRI results were used as a reference standard for joint status. Pearson's r was used to assess correlation of other methods with MRI. Results The correlation with MRI was the highest for US (r = .92), considerably higher than for clinical evaluation (r = .62) and patient's subjective assessment (r = .66). There was no correlation between the presence or degree of haemophilic arthropathy and any of the laboratory biomarkers. Conclusion The results of our study warrant the inclusion of US into the regular follow‐up of patients with severe haemophilia, where the equipment and staffing permit.

Compromised postprocedural infrapopliteal run-off predisposes to early restenosis/reocclusion after femoropopliteal PTA. Deterioration of infrapopliteal run-off in the year after femoropopliteal PTA is accompanied by worsening of long-term femoropopliteal patency.

Aneurysmal bone cyst (ABC) is a benign but locally aggressive neoplasm, with a tendency for local recurrence. In contrast to other bone tumors with secondary cystic change, ABC is characterized by USP6 gene rearrangement. There is a growing list of known USP6 fusion partners, characterization of which has been enabled with the advent of next‐generation sequencing (NGS). The list of known fusion partners includes CDH11, CNBP, COL1A1, CTNNB1, EIF1, FOSL2, OMD, PAFAH1B1, RUNX2, SEC31A, SPARC, STAT3, THRAP3, and USP9X. Using NGS, we analyzed a series of 11 consecutive ABCs and identified USP6 fusions in all cases, providing further evidence that USP6 fusions are universally present in primary ABCs. We identified four novel fusion partners in five ABCs and confirmed them by RT‐PCR and Sanger sequencing, ASAP1, FAT1, SAR1A, and TNC (in two cases). Because of high sensitivity and specificity, detection of a USP6 fusion by NGS may assist in differentiating between ABC and its mimics, especially in small biopsy samples when a definite diagnosis cannot be achieved on morphological grounds alone. Further studies with a large number of cases and follow‐up are needed to determine whether different fusion partners are associated with specific clinical and pathologic features of ABCs.

ABSTRACT. Since the 1990s, stent graft implantation for aortic pathology has become an alternative to extensive surgical procedures in some patients. Indeed, many patients with such pathology are now treated endovascularly. Only limited data concerning the risk of a deterministic effect during aortic stent graft implantation are available. Accordingly, 179 consecutive patients treated in our institute between October 2002 and July 2008 with endovascular aortic stent grafts were included in this study. Dosimetric data (kerma area product (KAP) and cumulative dose at the interventional reference point (CD irp )) from radiograph reports were analysed for 172 patients. On a group of 19 patients, GAFCHROMIC XR type dosimetric films were also used to verify the automatic measurements. Readings from the integrated KAP meter were found to be too high and were therefore corrected -KAP to dose area product (DAP) and CD irp to entrance skin dose (ESD). Median DAP was 153 Gy cm 2 (35-700 Gy cm 2 ) and median ESD was 0.44 Gy (0.12-2.73 Gy). Recorded dosimetric quantities were found to be good predictors of the skin dose and highlighted 4 patients (2.3%) who received skin doses that might cause possible deterministic effects. Endovascular stent graft implantation is less invasive than a surgical procedure and is widely used; mid-term results are encouraging. In a small number of patients, deterministic effects can occur even in departments with well-trained staff. Operators should inform the patients of possible skin injury after receiving high doses of ionising radiation and proper support must be available should that occur.

Introduction There is no evidence that anatomically correct anterior cruciate ligament reconstruction (ACLR) offers lower rate of degenerative changes development or that it would lead to a better outcome. The significance and understanding of the abnormal anterior tibial translation (ATT) in ACLR patients is yet to be established. Methods Sixty subjects (40 patients at 5.9 years after ACLR, 20 healthy controls) underwent 3 T MRI. Quantitative cartilage T2 mapping and morphological whole organ magnetic resonance imaging score (WORMS) evaluation was performed. Self-reported questionnaires were used for subjective clinical evaluation. Correlations were calculated with the following MRI measurements; femoral tunnel inclination, ACL graft inclination, lateral and medial compartment ATT. Results In the ACLR group positive correlation was found between the patellar cartilage T2 values and sagittal ACL graft inclination. In the ACLR group lateral compartment ATT showed negative correlation with ACL graft inclination and subjective clinical evaluation, and positive correlation with morphological degenerative changes. Femoral tunnel showed positive correlation with ACL graft inclination in the same plane. Conclusions Increased ATT offers worse clinical outcome and increased rate of degenerative changes. Furthermore, ATT is affected by the ACL inclination. Inclination of the drilling tunnel affects ACL graft inclination; thereby independent drilling techniques provide superior results of anatomical ACL graft positioning.