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.

Direct measurements of the magnetic entropy change.

An experimental device that can accurately measure the magnetic entropy change, Δs, as a function of temperature, T, and magnetic field, H, is presented. The magnetic field source is in this case a set of counter-rotating concentric Halbach-type magnets, which produce a highly homogeneous applied field with constant orientation. The field may be varied from 0 to 1.5 T in a continuous way. The temperature stability of the system is controlled to within ±10 mK and the standard range for the current setup is from 230 K to 330 K. The device is under high vacuum and we show that thermal losses to the ambient are negligible in terms of the calorimetric determination of the magnetic entropy change, while the losses cannot be ignored when correcting for the actual sample temperature. We apply the device to two different types of samples; one is commercial grade Gd, i.e., a pure second-order phase transition material, while the other is Gd5Si2Ge2, a first order magnetic phase transition material. We demonstrate the device's ability to fully capture the thermal hysteresis of the latter sample by following appropriate thermal resetting scheme and magnetic resetting scheme.

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.

[Penetrating heart injuries]. / Penetrierende Herzverletzungen.

On personal experience of 6 cases and literature review the management of penetrating precordial wounds is discussed. The importance of clinical science, as shock and high central venous pressure, in the indication of emergency thoracotomy is outlined.

Characterization of Rhodococcus equi-like bacterium isolated from a wound infection in a noncompromised host.

A case of superficial wound infection in a noncompromised host due to a Rhodococcus equi-like organism, acquired from soil, is described. The strain grew poorly at 37 degrees C and showed several differences from wild-type R. equi in biochemical tests and in its fatty acid and mycolic acid compositions.