Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging.

OBJECTIVE: This was a retrospective data analysis to evaluate the treatment response to enzyme replacement therapy (ERT) with Velaglucerase alfa using whole-body magnetic resonance imaging (MRI). MATERIALS AND METHODS: A baseline and follow-up MRI were performed on 18 Gaucher Type 1 patients at an interval of 11.6 months. The MRI score systems determined the Bone-Marrow-Burden (BMB) score, the Düsseldorf-Gaucher score (DGS), and the Vertebra-Disc-Ratio (VDR). The Severity Score Index Type 1 (GD-DS3) was also assessed. RESULTS: The baseline MRI medians were: BMB, 7.00; DGS, 3.00; and VDR: 1.70; while, the follow-up MRI medians were: BMB, 7.00; DGS, 3.00; and VDR: 1.73. The baseline GD-DS3 median was 2.40 (BMB excl.: 0.50) and the follow-up median was 2.00 (BMB excl.: 0.50). There was weak statistical significance with the Wilcoxon signed-rank test for the DGS (p=0.034) and GD-DS3 (p=0.047) between both MRIs. CONCLUSION: Velaglucerase alfa therapy is a effective long-term treatment for Gaucher Type 1 patients who are newly diagnosed or switching therapies. Measurements with whole-body MRI and an objective scoring system were reliable tools for detecting early stage bone marrow activity. Further research is needed to evaluate the "Booster-Effect" of Velaglucerase alfa therapy in Gaucher skeletal disease.

Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.

PURPOSE: To evaluate whole-body magnetic resonance imaging (WB-MRI) for the assessment of bone marrow infiltration in patients with confirmed Gaucher disease type 1 under long-term enzyme replacement therapy (ERT). MATERIALS AND METHODS: This retrospective data analysis included 38 patients in two subgroups. Group A: 10 females, 9 males, 15-29 years, mean age 22 years and Group B: 11 females, 8 males, 29-77 years, mean age 49 years, all treated with alglucerase or imiglucerase for at least 12.5 years. Whole-body MRI was carried out in all patients using a standard MRI protocol. Two radiologists assessed all MR images retrospectively with the use of three different MRI score systems: The bone marrow burden (BMB) score, the Düsseldorf-Gaucher score (DGS) and the vertebra disc ratio (VDR). As a clinical component, severity score index type 1 (GD-DS3) was determined. RESULTS: In both groups the MR scores showed low to moderate pathologic levels but no statistically significant difference was found between both groups. The median scores in group A/group B were 7.00/9.00 for the BMB score (p=0.07), 4.00/3.00 for the DGS score (p=0.062) and 1.54/1.62 for the VDR score (p=0.267). The GD-DS3 score was statistically significantly different between both groups (1.6/3.9, p=0.000) and osseous Gaucher disease complications were only found in group B. CONCLUSION: Bone marrow involvement and typical clinical manifestations are reduced to a minimum, when ERT starts immediately after the confirmed diagnosis of Gaucher disease type 1. The applied MR scores are useful markers to control bone marrow infiltration under enzyme replacement therapy in older patients. Pathologic MR scores in young patients may reflect postponed fat conversion of the juvenile bone marrow. This issue has to be examined in further studies. KEY POINTS: Whole-body MRI is valuable for the staging of Gaucher disease type 1. Osseous complications are reduced to a minimum in early treated patients. MR score systems have to be adjusted in young Gaucher patients.

Morphologic assessment of thoracic deformities for the preoperative evaluation of pectus excavatum by magnetic resonance imaging.

OBJECTIVE: To assess whether MRI is a suitable modality for the preoperative assessment and quantification of pectus excavatum. METHODS: A total of 69 patients (57 male, 12 female; median age 15 years, range 5-35 years) with pectus excavatum were evaluated preoperatively using standardized MRI sequences on 1.5- and 3-Tesla systems (T2-HASTE/inspiration and expiration, T1-VIBE, T2-TRUFI free-breathing, T2-BLADE). The MR sequences were analysed for quality semiquantitatively. The Haller index, correction index, sternal rotation angle and asymmetry index were assessed; correlations between these indices and changes in inspiration and expiration were evaluated. RESULTS: T2-HASTE was the best sequence to assess pectus excavatum morphology, with a higher quality at 3 T than at 1.5 T. All indices could be assessed in every patient. A total of 37 patients had a symmetric deformity, 32 patients an asymmetric deformity. The Haller index correlated significantly (p < 0.001) with the correction index, both becoming higher in expiration. The asymmetry index correlated with the sternal rotation angle (p < 0.001) and did not change significantly in expiration (p = 0.28). CONCLUSIONS: Thoracic MRI is suitable for the preoperative evaluation of patients with pectus excavatum. An exact morphologic assessment is possible without radiation exposure as well as the determination of several indices to quantify the deformities.

[A long-term 3D cast model analysis focusing bone-borne vs. tooth-borne SARME].

UNLABELLED: This retrospective study evaluated 34 patients pre- and ~20.5 months post expansion 3D scanned cast models with tooth-borne (ТВ, n1=16) and bone-borne (BB, n2=18) devices. Measurements were performed for transverse skeletal/dental maxillary widening, dental tipping and dental attachment loss. RESULTS: T-Test in long-term effects: BB: bigger, symmetric transverse widening along the dental arch; bigger attachment loss in the frontal teeth, canines, 2nd premolars. molars; bigger dental tipping in the canines and 2nd molars; ТВ: asymmetric transverse widening along the dental arch; bigger attachment loss in the 1st premolars: bigger dental tipping in the premolars and 1st molars. CONCLUSION: BB should be used whenever bigger transverse maxillary expansion is required, new distractor designs may reduce segmental inclination and initial expansion asymmetries, consequently, eliminating the related attachment loss from secondary orthodontic tooth movements for arch alignment. ТВ devices showed minor expansion with good periodontal attachment, yet attachment loss in the first premolars must be critically seen in bigger expansion distances.