Background and PurposeSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Most SMA patients have a homozygous deletion in survival of motor neuron 1 (SMN1) gene, and neuronal apoptosis inhibitory protein (NAIP) gene is considered a phenotype modifier. We investigated the genotype-phenotype correlation of SMN1 and NAIP deletions in Korean SMA patients.MethodsThirty-three patients (12 males and 21 females) treated at the Asan Medical Center between 1999 and 2013 were analyzed retrospectively. The polymerase chain reaction (PCR), restriction-fragment-length polymorphism analysis, and multiplex PCR were used to detect deletions in SMN1 (exons 7 and 8) and NAIP (exons 4 and 5). We reviewed clinical presentations and outcomes and categorized the patients into three clinical types. NAIP deletion-driven differences between the two genotypes were analyzed.ResultsDeletion analysis identified homozygous deletions of SMN1 exons 7 and 8 in 30 patients (90.9%). Among these, compared with patients without an NAIP deletion, those with an NAIP deletion showed a significantly lower age at symptom onset (1.9±1.7 months vs. 18.4±20.4 months, mean±SD; p=0.007), more frequent type 1 phenotype (6/6 vs. 8/24, p=0.005), and worse outcomes, with early death or a requirement for ventilator support (4/4 vs. 2/12, p=0.008).ConclusionsHomozygous deletion in SMN1 and a concurrent NAIP deletion were associated with an early onset, severe hypotonia, and worse outcome in SMA patients. Deletion analysis of NAIP and SMN1 can help to accurately predict prognostic outcomes in SMA.

In spite of exponential growth projections of RFID (Radio Frequency Identification) market value, many companies are reluctant to adopt RFID and RFID vendors are complaining that the business is not growing as fast as expected. The existing challenges and deep skepticism that RFID is facing remains around the return on investment, the incompleteness of RFID technology, and the lack of trust in the result of performance improvement. To fill these voids identified in previous research, from the perspective of business productivity and efficiency, this paper investigates what factors affect RFID-driven task performance, based on the extended TaskTechnology Fit (TTF) model. To empirically evaluate the proposed model, a total of 63 usable responses were collected from companies in Korea, and the data is analyzed by Partial Least Squares (PLS). The results obtained pointed out the importance of the fit between the technology and users' tasks in achieving individual performance impact. Moreover, negative perceptions toward RFID have no direct effect on continuing RFID utilization. Knowing these factors, potential technology users are able to evaluate if it is reasonable to adopt RFID under certain conditions and at a certain point in time. Furthermore, they can attempt to actively influence these variables in order to reduce the failure probability of RFID deployments.

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