ABSTRACT
Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactocerebrosidase(GALC) gene. The deficiency of GALC activity leads to the accumulation of psychosine, resulting in apoptosis of myelin-forming cells of the central and peripheral nervous system. The patients with typical infantile onset Krabbe disease have extreme irritability, developmental regression, spasticity, and seizures with an onset prior to six months of age. These children usually die within two years after birth. We report a female infant who showed the characteristic clinical manifestations, disease course, and neuroimaging features of infantile onset Krabbe disease that was confirmed by the identification of a compound heterozygous mutation of the GALC gene.
Subject(s)
Child , Female , Humans , Infant , Apoptosis , Galactosylceramidase , Leukodystrophy, Globoid Cell , Muscle Spasticity , Neurodegenerative Diseases , Neuroimaging , Parturition , Peripheral Nervous System , Psychosine , SeizuresABSTRACT
In this study, we developed MobileNurseTM; a prototype of mobile nursing information system using PDA. MobileNurseTM is designed to communicate with hospital information system(HIS) via mobile support station(MSS) which interchanges and stores clinical data. MobileNurseTM consists of 3 components. The first component is medical order checking module. It enables nurses to retrieve patients' information such as physicians' orders and test results at anywhere or anytime. The second component is nursing recording module which helps nurses to record the results of their practices at bedside. On the autosynchronization of MSS and PDA, the data in PDA and MSS can be interchanged and updated respectively. The last component is nursing unit care planing module. It is helpful for retrieving the nursing care plans of patients that are expected to be done, such as patients' discharge, consultation, or transfer. With use of PDA in clinical environment, nurses can spend more time on caring for patients by reducing time-consuming, redundant paperwork. It is promising that this 'point-of-care system enables nurses to improve the quality of nursing care.