Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.

The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross-sectional data on visceral, hematological, and biochemical manifestations of untreated adult patients with chronic visceral ASMD ( = 19) and GD1 ( = 85). Spleen volume, liver volume, and bone marrow fat fraction did not significantly differ between the two disease groups ( >0.

Gender- and Age-Associated Differences in Bone Marrow Adipose Tissue and Bone Marrow Fat Unsaturation Throughout the Skeleton, Quantified Using Chemical Shift Encoding-Based Water-Fat MRI.

Bone marrow adipose tissue (BMAT) is a dynamic tissue which is associated with osteoporosis, bone metastasis, and primary bone tumors. The aim of this study is to determine region-specific variations and age- and gender-specific differences in BMAT and BMAT composition in healthy subjects. In this cross-sectional study, we included 40 healthy subjects (26 male: mean age 49 years, range 22-75 years; 14 female: mean age 50 years, range 29-71) and determined the bone marrow signal fat fraction and bone marrow unsaturation in the spine (C3-L5), pelvis, femora, and tibiae using chemical shift encoding-based water-fat imaging (WFI) with multiple gradient echoes (mGRE).

Changes in sub-calcaneal fat pad composition and their association with dynamic plantar foot pressure in people with diabetic neuropathy.

Background: Diabetic foot disease is associated with physiological and biomechanical abnormalities in the foot that increase risk for ulceration. The objective was to assess MRI changes in the composition of sub-calcaneal fat pad tissue and its association with plantar pressure during walking.

Methods: Fourteen people with diabetes and peripheral neuropathy and five age-matched healthy controls underwent T1-weighted sagittal plane spin-echo Dixon MRI of the rearfoot.

The Effect of Roux-en-Y Gastric Bypass on Bone Marrow Adipose Tissue and Bone Mineral Density in Postmenopausal, Nondiabetic Women.

Objectives: This study aimed to determine the effect of bariatric surgery-induced weight loss on bone marrow adipose tissue (BMAT) and bone mineral density (BMD) in postmenopausal, nondiabetic women.

Methods: A total of 14 postmenopausal, nondiabetic women with obesity who were scheduled for laparoscopic Roux-en-Y gastric bypass surgery (RYGB) were included in this study. Vertebral bone marrow fat signal fraction was determined by quantitative chemical shift magnetic resonance imaging, and vertebral volumetric BMD (vBMD) was determined by quantitative computed tomography before surgery and 3 and 12 months after surgery.

Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.

Gaucher disease (GD) is a lysosomal storage disorder characterized by the storage of glycosphingolipids in macrophages. Despite effective therapy, residual disease is present in varying degrees and may be associated with late complications, such as persistent bone or liver disease and increased cancer risk. Gaucher macrophages are capable of storing iron and locations of residual disease may thus be detectable with iron imaging.

Comparison of clinical MRI liver iron content measurements using signal intensity ratios, R and R .

Purpose: To compare three types of MRI liver iron content (LIC) measurement performed in daily clinical routine in a single center over a 6-year period.

Methods: Patients undergoing LIC MRI-scans (1.5T) at our center between January 1, 2008 and December 31, 2013 were retrospectively included.

Short-Term Effect of Estrogen on Human Bone Marrow Fat.

Bone marrow fat, an unique component of the bone marrow cavity increases with aging and menopause and is inversely related to bone mass. Sex steroids may be involved in the regulation of bone marrow fat, because men have higher bone marrow fat than women and clinical observations have suggested that the variation in bone marrow fat fraction is greater in premenopausal compared to postmenopausal women and men. We hypothesized that the menstrual cycle and/or estrogen affects the bone marrow fat fraction.

Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters of iron storage.

Long term liver-related complications of type-1 Gaucher disease (GD), a lysosomal storage disorder, include fibrosis and an increased incidence of hepatocellular carcinoma. Splenectomy has been implicated as a risk factor for the development of liver pathology in GD. High ferritin concentrations are a feature of GD and iron storage in Gaucher cells has been described, but iron storage in the liver in relation to liver fibrosis has not been studied.

Effects of switching from a reduced dose imiglucerase to velaglucerase in type 1 Gaucher disease: clinical and biochemical outcomes.

This paper describes the effects of a switch to velaglucerase alfa in a group of adult patients with type 1 Gaucher disease, all of whom had previously had their dose reduced as a consequence of the worldwide imiglucerase shortage. Thirty-two patients from two large European Gaucher centers switched to treatment with velaglucerase alfa after 1-8.5 months of dose reduction.

From Gaucher's disease to metabolic radiology: translational radiological research and clinical practice.

Imaging has an increasing role in the management of patients with inborn errors of metabolism. This role is related to expensive enzyme replacement therapy that requires a surrogate biomarker, such as magnetic resonance imaging. This review paper raises the issue of the potential for metabolic radiology to become a subspecialty.

MRI for staging lymphoma: whole-body or less?

Purpose: To assess whether whole-body MRI detects more clinically relevant lesions (i.e., leading to a change in Ann Arbor stage) than an MRI protocol that only includes the head/neck and trunk (i.

Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study.

Motoneuron disease is a term encompassing three phenotypes defined largely by the balance of upper versus lower motoneuron involvement, namely amyotrophic lateral sclerosis, primary lateral sclerosis and progressive muscular atrophy. However, neuroradiological and pathological findings in these phenotypes suggest that degeneration may exceed the neuronal system upon which clinical diagnosis is based. To further delineate the phenotypes within the motoneuron disease spectrum, this controlled study assessed the upper- and extra-motoneuron white matter involvement in cohorts of patients with motoneuron disease phenotypes shortly after diagnosis by comparing diffusion tensor imaging data of the different cohorts to those of healthy controls and directly between the motoneuron disease phenotypes (n = 12 for each cohort).

The direct tensor solution and higher-order acquisition schemes for generalized diffusion tensor imaging.

Both in diffusion tensor imaging (DTI) and in generalized diffusion tensor imaging (GDTI) the relation between the diffusion tensor and the measured apparent diffusion coefficients is given by a tensorial equation, which needs to be inverted in order to solve the diffusion tensor. The traditional way to do this does not preserve the tensorial structure of the equation, which we consider a weakness in the method. For a physically correct measurement procedure, the condition number of the acquisition scheme, which is a determinant of the noise behavior, needs to be rotationally invariant.

White matter fibertracking in first-episode schizophrenia, schizoaffective patients and subjects at ultra-high risk of psychosis.

There is increasing evidence of white matter pathology in schizophrenia. The aim of this study was to examine whether white matter abnormalities found with diffusion tensor imaging (DTI) in previous schizophrenia studies are present in the early phase of the illness. DTI was performed at 3 T on 10 male patients with a first (n = 8) or second (n = 2) psychotic episode of schizophrenia or schizoaffective disorder, 10 male patients at ultra-high risk of psychosis with (pre)psychotic symptoms and 10 healthy controls.

Generating fiber crossing phantoms out of experimental DWIs.

In Diffusion Tensor Imaging (DTI), differently oriented fiber bundles inside one voxel are incorrectly modeled by a single tensor. High Angular Resolution Diffusion Imaging (HARDI) aims at using more complex models, such as a two-tensor model, for estimating two fiber bundles. We propose a new method for creating experimental phantom data of fiber crossings, by mixing the DWI-signals from high FA-regions with different orientation.

Low frequency maintenance therapy with imiglucerase in adult type I Gaucher disease: a prospective randomized controlled trial.

Background And Objectives: Gaucher disease type I can be successfully treated with enzyme replacement therapy (ERT). In order to reduce the burden of the intravenously administered enzyme, a low frequency of administration was prospectively studied in patients with stable and minor disease following ERT.

Design And Methods: Eleven patients were randomly assigned either to continue their original regimen of a dose of ERT once every week or fortnight (five patients) or to lower the frequency of administration to once every 4 weeks, at the same cumulative dose (six patients).

Dynamic contrast-enhanced MRI of the bowel wall for assessment of disease activity in Crohn's disease.

Objective: The purpose of this study was to evaluate the role of contrast-enhanced dynamic MRI in predicting the disease activity of Crohn's disease.

Materials And Methods: Forty-eight patients in two hospitals who had clinically suspected exacerbation of Crohn's disease were included in this study. In three levels of thickened small-bowel wall, axial dynamic T1-weighted sequences were performed every 4-6 sec for a total duration of 2-3 min after contrast administration; static T1-weighted turbo spin-echo sequences were acquired both before and after contrast administration.

Tilt table design for rapid and sinusoidal posture change with minimal vestibular stimulation.

Introduction: Cardiovascular response to fast posture change can be used to model individual orthostatic response under normal circumstances and after spaceflight. We set out to construct a computer-controlled tilt table suitable for repeated sinusoidal tilt motion as well as fast, single head-up tilt (HUT). The movement profile of the table was designed to prevent muscle tensing and limit vestibular stimulation.

Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings.

Background And Purpose: Peroxisomal biogenesis disorders (PBDs) refer to a group of disorders of peroxisomal biogenesis causing neuronal migration disorder, delayed myelination, and demyelination. The aim of this study was to evaluate the added value of diffusion-weighted imaging (DWI) and diffusion tensor imaging (DTI) compared with that of conventional T2-weighted imaging in assessing the extent of white matter damage in patients with PBDs.

Methods: Three patients (aged 12, 16, and 80 months) with PBD (type 1 protein targeting sequence [PTS1]) and three age-matched control subjects underwent MR imaging on a 1.

Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.

Conventional MR, diffusion-weighted, and diffusion tensor imaging were performed in an 8-day-old girl with citrullinemia. She had severe hyperammonemia for several days. On conventional T2-weighted MR images, symmetric, confluent high signal intensity was found in the bilateral thalami, basal ganglia, cortex, and subcortical white matter.

Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging--initial experience.

Purpose: To develop a semiquantitative magnetic resonance (MR) imaging bone marrow burden (BMB) score with inclusion of both axial and peripheral bone marrow in Gaucher disease as an alternative to MR imaging with the Dixon quantitative chemical shift imaging (QCSI) technique.

Materials And Methods: Two experienced musculoskeletal radiologists with no experience in evaluating Gaucher disease blindly analyzed MR images of lumbar spines and femora. Interobserver and intraobserver variability were tested.

Epidermoid of the lateral ventricle: evaluation with diffusion-weighted and diffusion tensor imaging.

We report of a large epidermoid tumor of the lateral ventricle in a 67-year-old man. Conventional imaging (CT, T1/T2, MRI) could not differentiate the tumor from the surrounding cerebral spinal fluid (CSF). On diffusion-weighted and diffusion anisotropy images the tumor was clearly seen as a hyperintense mass surrounded by hypointense CSF, highly suspected for epidermoid.

Efficient measurement and calculation of MR diffusion anisotropy images using the Platonic variance method.

The Platonic variance method produces MR diffusion anisotropy (DA) images with a minimum amount of computational effort. It can be programmed in a self-contained MR sequence, thus eliminating the need for postprocessing on a separate workstation. The method uses gradient acquisition schemes, based on Platonic solids: the "icosahedric" scheme (N = 6), the "dodecahedric" scheme (N = 10), and combinations thereof.

Vertebra disc ratio as a parameter for bone marrow involvement and its application in Gaucher disease.

Objective: To establish the vertebra disc ratio (VDR), the ratio of the average T1-weighted gray value of disc L3 and intervertebral disc L3/L4, as a parameter for bone marrow involvement. To explore its value as alternative for bone marrow fat fraction measured with Dixon Quantitative Chemical Shift Imaging (Ff) in Gaucher disease (GD).

Methods: Age dependency and normal value for the VDR were determined in 46 controls.

Quantification of skeletal involvement in adults with type I Gaucher's disease: fat fraction measured by Dixon quantitative chemical shift imaging as a valid parameter.

Objective: The objective of our study was to determine the merit of the fat fraction of axial bone marrow measured by Dixon quantitative chemical shift imaging (Dixon QCSI) as a clinical parameter to quantitatively assess the extent of skeletal involvement in type 1 Gaucher's disease.

Materials And Methods: Dixon QCSI was performed in 30 adult patients (age range, 18-69 years; mean, 39 years) with type 1 Gaucher's disease who were untreated. The relationship between the mean value of the fat fraction in vertebrae L3, L4, and L5 and the presence, absence, and severity of clinical bone complications (chronic bone pain, bone crisis, fracture, avascular necrosis, and joint replacement) as well as the conventional MR imaging of bone marrow involvement were studied.