Gaucher Disease

Abstract

The definitive method of diagnosis is enzyme assay of beta-glucocerebrosidase activity. Schedules differ for monitoring complications of type I Gaucher disease, depending on symptoms and whether enzyme replacement therapy is used. Hematologic and biochemical involvement should be assessed by complete blood cell count, including platelets, acid phosphatase, and liver enzymes, at baseline and every 12 months in untreated patients and every 3 months and at enzyme replacement therapy changes in treated patients. Visceral involvement should be assessed at diagnosis using magnetic resonance imaging or computed tomographic scans. Skeletal involvement should be assessed at diagnosis using T1- and T2-weighted magnetic resonance imaging of the entire femora and plain radiography of the femora, spine, and symptomatic sites. Follow-up skeletal and visceral assessments are recommended every 12 to 24 months in untreated patients, and every 12 months and at enzyme replacement therapy changes in treated patients.

Correlation of MRI-Based Bone Marrow Burden Score with Genotype and Spleen Status in Gaucher's Disease

“…Among patients of Ashkenazi Jewish descent, the four mutations N3 70S, 84GG, L444P , and IVS2+l account for at least 90% of cases of symptomatic GD [4]. In the United States, most patients have at least one copy of the N370S allele [5].…”

“…Although many bone lesions respond to enzyme replacement therapy, osteonecrosis, osteosclerosis, and vertebral compression are generally irreversible [4, 11]. In the era of enzyme replacement therapy, sensitive assessment and monitoring of skeletal disease are critical to timely intervention before permanent disability is incurred [4]. Quantitative MRI-based methods have been developed to measure bone marrow infiltration in GD.…”

“…The characteristic progression of disease within the femur, from proximal metaphysis to diaphysis to proximal and then distal epiphysis, has been the principal, if not the sole, criterion on which most previously reported scoring systems have been based. Reflecting this bias, in current published imaging guidelines [4] and actual clinical practice, MRI evaluation of skeletal disease in GD is of ten limited to the femurs. Maas and colleagues [16] proposed an alternative bone marrow burden scoring system that in corporates signal intensity and distribution parameters for the lumbar spine in addition to the femurs.…”

Creating a Registry for Patients with Thoracic Outlet Syndrome

“…For physicians, the registry can provide insight into management of a disease in accordance with evidence-based guidelines [7]. For patients and patient advocacy groups, a registry can increase understanding of the natural history of a disease, contribute to the development of treatment guidelines, or facilitate research on treatment [7,8]. When multiple stakeholders are involved, clear policies should be in place regarding governance, data access, and the publication of data from registries.…”

Microscale separation methods for enzyme kinetics assays

“…Monitoring of enzymatic activity is an important source of information in the research fields of biochemistry and molecular biology. Because subtle changes in the activity of enzymes can lead to serious errors in metabolism, growth, and reproduction, determination of enzyme activity is also of great importance in medicine [3][4][5]. Enzymes are usually quantified by their activity, because this is the biologically most relevant property and its value is more readily accessible than the concentration of enzyme itself.…”