Pelizaeus-Merzbacher Disease with PLP1 Exon 1 Duplication, Previously Misdiagnosed as Cerebral Palsy: a Case Report

Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 (PLP1) gene mutation. We report a case of PMD with PLP1 exon 1 duplication, previously misdiagnosed as cerebral palsy (CP).A 25-year-old male previously diagnosed as CP visited our clinic with progressive weakness and spasticity of bilateral lower limbs. Next generation sequencing revealed hemizygous duplication of exon 1 in PLP1. Additionally, multiplex ligation-dependent probe amplification assay of the patient's mother showed the same mutation, which could finally confirm the diagnosis as PMD. This patient received comprehensive rehabilitation program, and helped the patient to achieve functional improvement. Proper diagnosis and therapeutic plan will be needed for the patients with PMD, before diagnosing CP rashly.

Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia.

Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia.

Chromosomal Deletion in 7q31.2-31.32 Involving Ca2⁺-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report

We present a 33-year-old male patient with cerebellar ataxia. He was first considered to have a psychiatric conversion disorder but finally found to have chromosomal deletion in 7q31.2-31.32 involving Ca2⁺-dependent activator protein for secretion (CADPS) gene. When a targeted gene sequencing using next-generation sequencing panel and chromosomal microarray analysis were performed, an 8.6 Mb deletion within chromosome 7q31.2-31.32 was discovered. Deletion of CADPS gene in the 7q31.2-31.32 was suggested as the causative factor of cerebellar ataxia. Functional levels evaluated by Berg balance scale and modified Barthel index were improved via comprehensive rehabilitation including balance training and a dopamine agonist medication. To the best of our knowledge, this is the first report of chromosomal deletion in 7q31.2-31.32 including CADPS gene detected in patients with cerebellar ataxia.

Erratum to: The Usefulness of Critical Pathway in Laparoscopic Cholecystectomy

Authors requested to change the name of the hospital to proper name.

The Usefulness of Critical Pathway in Laparoscopic Cholecystectomy

PURPOSE: Under the rising demand of health services, the critical pathway (CP) which standardizes the practice guideline was introduced as a means to provide quality healthcare service. CP may increase the patient's satisfaction rate by providing systematic and consistent service. We aimed to evaluate the significance of CP by development and application of CP to patients undergoing laparoscopic cholecystectomy. METHODS: From June 2010 to July 2011, 148 patients underwent elective laparoscopic cholecystectomy. Patients were divided into two groups, including 57 patients in the CP group and 91 patients in the non-CP group. In a retrospective review, related hospital costs were analyzed and compared for both groups. Survey results on satisfaction for the CP group were also analyzed. RESULTS: The mean age was 22.7 years in the CP group and 37.9 years in the non-CP group. Number of hospitalized days was one day for the CP group and 2.51 days for the Non-CP group with p<0.001. In cost analysis all variables showed a significant reduction in the CP group compared to the Non-CP group. The satisfaction rate in the CP group scored 8 points out of 10. CONCLUSION: Results have shown benefit from the financial point of the view for the CP group. Current inclusion criteria for CP are limited and still in development for a solid protocol. Further efforts with a large-scale comparative study to broaden the indication for CP are desired.

Feasible Factors to Reduce Hospital Days after Laparoscopic Cholecystectomy

PURPOSE: Under the proper program, day-case laparoscopic cholecystectomy is feasible in the aspect of postoperative recovery consisting of patient's satisfaction and postoperative complication. In this study, we plan a new protocol for laparoscopic cholecystectomy by analyzing factors that can reduce hospital days. METHODS: A total of 175 patients who underwent three-day laparoscopic cholecystectomy were initially selected. Out of 175 patients, secondary selection was executed using inclusion criteria. The selected patients were scheduled for new two-day laparoscopic cholecystectomy, and 89 patients were included in the data analysis. This study elucidated the comparative analysis between the discharged in the postoperative day 0 group and the postoperative day 1 group. RESULTS: The clinical characteristics were not significantly different between discharged in the postoperative day 0 group and the postoperative day 1 group. The combined diseases were not significantly different between the two groups. Post-operative complications in both groups were analyzed on the seventh day after the operation. No significant difference was observed between the two groups. Members of the patient group who were discharged on postoperative day 0 were given a survey regarding post-operative pain, desirability of discharge, and the level of satisfaction with patient education. The average score was 8.3 out of 10 points. In comparison of the total hospital cost between the two groups, the group discharged on postoperative day 0 had lower cost in all factors. CONCLUSION: We conclude that day-case laparoscopic cholecystectomy is as safe and effective as routine clinical pathway applied laparoscopic cholecystectomy in stable cardiovascular disease, uncomplicated pulmonary disease, and controlled DM patients.