Ethical And Societal Considerations

Although to date only symptomatic management can be recommended for type II disease, ethical issues relating to ERT that are neither life-prolonging nor appreciably improve the quality of life of these babies need to be addressed. Indeed, ethical arguments apply to the emotional outlay in neuronopathic forms, but also to the financial outlay for orphan drugs for nonsevere, non-neuronopathic patients. No evidence-based consensus has been documented to support the extraordinary expense of superhigh doses of ERT for children with neuronopathic forms, and no maintenance trials have been initiated to provide guidelines for tapering/withdrawing therapy once near-normal parameters have been achieved. These cases need to be addressed equitably and ethically.

CONCLUSION 7.

Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the nonneuronopathic form, is rather common, with a predilection among Ashkenazi Jews. There is tremendous variability in age of onset, severity, and phenotypical expression in this type. Symptomatic presentation may include hepatosplenomegaly, anemia, thrombocytopenia, and skeletal or lung involvement. Life expectancy is unimpaired. The neuronopathic forms are pan-ethnic with a continuum of neurological and visceral signs and symptoms, and with decreased life expectancy. Diagnosis is performed by assay of p-glucocerebrosidase activity, and molecular analysis of mutations may broadly define genotype-phenotype correlations. ERT has proven to be safe and effective in ameliorating disease symptoms and signs; however, it involves life-long intravenous therapy, is costly, and is incapable of crossing the blood-brain barrier. Thus, other forms of treatment, including bone marrow transplantation and oral SRT, are attractive.

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Getting Started With Dumbbells

Getting Started With Dumbbells

The use of dumbbells gives you a much more comprehensive strengthening effect because the workout engages your stabilizer muscles, in addition to the muscle you may be pin-pointing. Without all of the belts and artificial stabilizers of a machine, you also engage your core muscles, which are your body's natural stabilizers.

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