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.
Apoptosis ; Child ; Female ; Galactosylceramidase ; Humans ; Infant ; Leukodystrophy, Globoid Cell ; Muscle Spasticity ; Neurodegenerative Diseases ; Neuroimaging ; Parturition ; Peripheral Nervous System ; Psychosine ; Seizures

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.
Humans ; Information Systems* ; Nursing Care ; Nursing Records ; Nursing* ; Patient Care Planning

Background: New genome sequencing technologies with enhanced diagnostic efficiency have emerged. Rapid and timely diagnosis of treatable rare genetic diseases can alter their medical management and clinical course. However, multiple factors, including ethical issues, must be considered. We designed a targeted sequencing platform to avoid ethical issues and reduce the turnaround time. Methods: We designed an automated sequencing platform using dried blood spot samples and a NEOseq_ACTION panel comprising 254 genes associated with Mendelian diseases having curable or manageable treatment options. Retrospective validation was performed using data from 24 genetically and biochemically confirmed patients. Prospective validation was performed using data from 111 patients with suspected actionable genetic diseases. Results: In prospective clinical validation, 13.5% patients presented with medically actionable diseases, including short- or medium-chain acyl-CoA dehydrogenase deficiencies (N=6), hyperphenylalaninemia (N=2), mucopolysaccharidosis type IVA (N=1), alpha thalassemia (N=1), 3-methylcrotonyl-CoA carboxylase 2 deficiency (N=1), propionic acidemia (N=1), glycogen storage disease, type IX(a) (N=1), congenital myasthenic syndrome (N=1), and citrullinemia, type II (N=1). Using the automated analytic pipeline, the turnaround time from blood collection to result reporting was <4 days. Conclusions This pilot study evaluated the possibility of rapid and timely diagnosis of treatable rare genetic diseases using a panel designed by a multidisciplinary team. The automated analytic pipeline maximized the clinical utility of rapid targeted sequencing for medically actionable genes, providing a strategy for appropriate and timely treatment of rare genetic diseases.