European multicentre study on technical success and long-term clinical outcome of radiofrequency ablation for the treatment of spinal osteoid osteomas and osteoblastomas (vol 61, pg 935, 2019)

The original version of this paper contained an error: the Acknowledgements weredropped duringearly manuscript editing.Imaging- and therapeutic targets in neoplastic and musculoskeletal inflammatory diseas

SCS 055: OBJECT ORIENTED PROGRAMMING

PurposeTo evaluate technical success and long-term outcome of CT-guided radiofrequency ablation (RFA) of spinal osteoid osteomas (OO) and osteoblastomas (OB) in six different European centres.MethodsEighty-seven patients with spinal OO (77) or OB (10) were treated with CT-guided RFA, after three-dimensional CT-guided access planning. Patient's long-term outcome was assessed by clinical examination and questionnaire-based evaluation including 10-point visual analogue scales (VAS) regarding the effect of RFA on severity of pain and limitations of daily activities. Clinical success was defined as a reduction of >30% in the VAS score and patient's satisfaction.ResultsOverall, RFA was technically successful in 82/87 cases (94.3%) with no major complications; clinical success was achieved in 78/87 cases (89.7%). The OO/OB were localized in the cervical (n=9/3), the thoracic (n=27/1), the lumbar (n=29/4), and the sacral spine (n=12/2). A decrease in severity of pain after RFA was observed in 86/87 patients (98.9%) with a persistent mean reduction of overall pain score from 8.040.96 to 1.46 +/- 1.95 (p<0.001) after a median follow-up time of 29.35 +/- 35.59months. VAS scores significantly decreased for limitations of both daily (5.70 +/- 2.73 to 0.67 +/- 1.61, p<0.001) and sports activities (6.40 +/- 2.58 to 0.67 +/- 1.61, p<0.001).Conclusion In a multicentric setting, this trial proves RFA to be a safe and efficient method to treat spinal OO/OB and should be regarded as first-line therapy after interdisciplinary case discussion.Imaging- and therapeutic targets in neoplastic and musculoskeletal inflammatory diseas

Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability – Further Delineation of the Phenotype and Expression Studies

Fragile X syndrome (FXS) is one of the most common causes of intellectual disability/developmental delay (ID/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the FMR1 gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID/DD patients with microdeletions including FMR1 have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing FMR1. X-inactivation was random in all patients, yet they presented with ID/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. FMR1 expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since FMR1 expression is known to be highly variable between unrelated females, and since FMR1 mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, FMR1 mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing FMR1