Presentation
RESULTS: GDI patients presented statistically significant (p CONCLUSIONS: Although the patients had been receiving ERT, they presented a significant diminution in all body composition parameters, the decrease was more evident in those receiving the lower [ncbi.nlm.nih.gov]
[…] disease type 2 Gaucher disease type 3 Detailed information Orphan designation - Australia Diseases list Gaucher disease Gaucher disease type 1 Gaucher disease type 2 Gaucher disease type 3 Detailed information The documents contained in this web site are presented [orpha.net]
Entire Body System
- Intravenous Administration
ADMINISTRATION Injectable Administration Visually inspect parenteral products for particulate matter and discoloration prior to administration whenever solution and container permit. Intravenous Administration Administer via intravenous infusion. [pdr.net]
Cardiovascular
- Palpitations
After 3 months of treatment, immediately after starting an infusion, he experienced flushing, cough, tachycardia, palpitation, chest pain and excessive sweating, which reoccurred on a consecutive administration. [ncbi.nlm.nih.gov]
Skin
- Sweating
After 3 months of treatment, immediately after starting an infusion, he experienced flushing, cough, tachycardia, palpitation, chest pain and excessive sweating, which reoccurred on a consecutive administration. [ncbi.nlm.nih.gov]
Neurologic
- Generalized Tonic-Clonic Seizure
After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic-clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. [ncbi.nlm.nih.gov]
- Dystonia
In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme-replacement therapy. [ncbi.nlm.nih.gov]
Workup
Other Pathologies
- Visceromegaly
CONCLUSION: ERT reversed the visceromegaly and hematologic abnormalities of Gaucher disease and improved the patient's quality of life. [ncbi.nlm.nih.gov]
Treatment
Highly-sensitive, direct bridging electrochemiluminescence screening assays were developed using samples from treatment-naïve individuals with type 1 Gaucher disease to set cut points. [ncbi.nlm.nih.gov]
[…] with velaglucerase, results after one year of treatment with velaglucerase. [haematologica.org]
Prognosis
There are several types of Gaucher's disease with varying prognosis and clinical progression of disease. We describe two cases followed at the Aga Khan University, Karachi, Pakistan, with different forms of the disorder. [ncbi.nlm.nih.gov]
The medical uses (including diagnosis, prognosis and treatment) for the patients should be consulted by the medical doctors and the information provided here is not prioritized for the medical consulting. [abxis.com]
Epidemiology
As an alternative, analyses of observational data from a large international disease registry using standard epidemiologic matching and modeling methods may offer a feasible and methodologically sound approach. [nature.com]
It was conducted in accordance with the French Good Epidemiological Practice guidelines. Data collected The study comprised a single visit for each patient that took place between May 2011 (first patient) and April 2012 (last patient). [ojrd.biomedcentral.com]
Pathophysiology
Bone involvement is one of the most disabling complications in patients with type 1 Gaucher disease (GDI) and its pathophysiology is yet to be fully understood. It is well known that body composition is a determinant of bone mass. [ncbi.nlm.nih.gov]
Prevention
Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series. [ncbi.nlm.nih.gov]
Fabrazyme treats Fabry disease, in which a missing or faulty enzyme prevents the body from breaking down oils, waxes, and fatty acids that build up in the eyes and kidneys, as well as the nervous and cardiovascular systems. [boston.com]
You may be given other medicines to prevent certain side effects of imiglucerase. Take these medicines exactly as directed. Tell your doctor if you have any changes in weight. Imiglucerase doses are based on weight. [everydayhealth.com]
Time-tested page layout keep all dosage information for each drug on either a single page or a two-page spread to prevent hand contamination by having to turn a page. [books.google.de]