نتایج جستجو برای: ert
تعداد نتایج: 1495 فیلتر نتایج به سال:
THE PERIMENOPAUSAL YEARS ARE ASSOCIATED WITH A SHARP INCREASE IN THE FREQUENCY OF SLEEP COMPLAINTS BY WOMEN.1,2 Although the exact prevalence of self-reported sleep problems varies widely across studies,3-5 perimenopausal women typically cite insomnia, disturbed sleep, and fatigue as some of their most frequent and pressing health concerns. The initiation of these sleep difficulties is usually ...
Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) in Pompe disease is moderately effective and a life-long therapy is warranted. Clinical investigations of temporary ERT interruption are lacking, but might be of clinical signifi cance (i.e. due to patient’s wish, adherence issues, holidays, or problems with drug supply). In Switzerland, ERT for Pompe disease was...
The tomographic imaging of process parameters for oil-gas-water three-phase flow can be obtained through different sensing modalities, such as electrical resistance tomography (ERT) and electrical capacitance tomography (ECT), both of which are sensitive to specific properties of the objects to be imaged. However, it is hard to discriminate oil, gas and water phases merely from reconstructed im...
OBJECTIVES: In vitro and in vivo animal studies suggest that sex steroids, such as estrogens and testosterone, could protect the brain. However, estrogen replacement therapy (ERT) for Alzheimer’s disease (AD) in women has not been successful. We hypothesised that the lack of effect of ERT might be related to an interaction between estrogens and some other factor(s) associ-
BACKGROUND Pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. The infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. Bone min...
Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activity of the lysosomal hydrolase α-galactosidase A (α-gal). This deficiency results in accumulation of the glycosphingolipid globotriaosylceramide (GL-3) in lysosomes. Endothelial cell storage of GL-3 frequently leads to kidney dysfunction, cardiac and cerebrovascular disease. The current treatment ...
OBJECTIVE Myostatin and insulin-like growth factor 1 (IGF-1) are serum markers for muscle growth and regeneration. However, their value in the clinical monitoring of Pompe disease - a muscle glycogen storage disease - is not known. In order to evaluate their possible utility for disease monitoring, we assessed the levels of these serum markers in Pompe disease patients receiving enzyme replacem...
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly impro...
Long-term complications and associated conditions of type 1 Gaucher Disease (GD) can include splenectomy, bone complications, pulmonary hypertension, Parkinson disease and malignancies. Enzyme replacement therapy (ERT) reverses cytopenia and reduces organomegaly. To study the effects of ERT on long-term complications and associated conditions, the course of Gaucher disease was modelled.
RATIONALE A high incidence of GLA IVS4+919 G>A mutation in patients with Fabry disease of the later-onset cardiac phenotype, has been reported in Taiwan. However, suitable biomarkers or potential therapeutic surrogates for Fabry cardiomyopathy (FC) in such patients under enzyme replacement treatment (ERT) remain unknown. OBJECTIVE Using FC patients carrying IVS4+919 G>A mutation, we construct...
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