A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy

Purpose: To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti's crystalline corneoretinal dystrophy (BCD). Methods: Using direct sequencing, mutation screening was performed in the CYP4V2 gene of both the patient with BCD and her daughter. Ophthalmic examinations were performed to determine the clinical features of both subjects. Results: The 64-year-old female patient had a bilateral visual acuity of 0.4. Slit lamp examination revealed bilateral crystalline-like deposits at the superior limbus of the cornea. Fundus examination revealed there was chorioretinal atrophy along with numerous glistening yellowish-white crystalline deposits that were scattered throughout the posterior pole and the mid-peripheral retina. Standard flash electroretinography showed an extinguished electroretinogram and Goldmann kinetic perimetry detected a relative scotoma. Genetic analysis revealed that the patient had a heterozygous mutation in the CYP4V2 gene (IVS6-8delTCATACAGGTCATCGCG/GC), which is the most commonly found mutation in Japanese patients with BCD. Furthermore, the patient was also shown to have a novel heterozygous point mutation in exon 9 of the CYP4V2 gene (c.1168C>T). In contrast, her daughter exhibited no clinical findings for BCD even though she carried the same heterozygous mutation in the CYP4V2 gene (c.1168C>T). Conclusion: A novel compound heterozygous mutation was found in the CYP4V2 gene of a patient with BCD. This previously unreported c.1168C>T mutation causes a missense mutation (p.R390C) in the CYP4V2 protein

Clinicopathology of Chondrosarcoma

We conducted a clinicopathological analysis of chondrosarcomas in 17 patients treated in our institute. The 5- and 10-year overall survival rates of the patients were 72.3% and 61.9%, respectively. The significant prognostic factors were size and histologic grade of the tumor. Sex, age, location of the primary tumor, or the presence of a preceding exostosis did not affect the treatment results significantly. Chondrosarcomas of histologic grades I and II did not metastasize, while all grade III and dedifferentiated chondrosarcomas metastasized to the lung. The local recurrence rate depended on the surgical margin. Wide excision with an adequate surgical margin is important to achieve local control of the chondrosarcoma.</p

Endoscopic carpal tunnel pressure measurement: a reliable technique for complete release

Carpal tunnel syndrome is diagnosed by clinical symptoms, Tinel's sign, Phalen's test and electromyography. Carpal tunnel pressure measurement can also aid in the precise identification of excessive pressure sites that indicate locations for release. In this study, pressure measurements made during endoscopic carpal tunnel release at 5 points were significantly higher anywhere in the carpal tunnel than outside the tunnel and decreased markedly after release. We concluded that our measurement technique can improve the reliability of endoscopic carpal tunnel release by decreasing the likelihood of missing any nerve entrapment sites.</p

QOL in RA patients

近年QOLが重視されるようになってきている｡MOS short form 36 health survey (以下SF-36と略す)は,国際的レベルでの基準とされるべく開発された非疾患特異的HRQOL尺度である｡今回我々は当院でリハビリテーションをうけているRA患者を対象にSF-36を用いてQOL評価を行った｡SFl36の8項目をそれぞれ算出し,国民標準値との比較を行った. すべての項目において標準値を下回っていたが,特に,日常役割機能(身体),日常役割機能(精神),身体の痛み,身体横能において大きな開きを認めた｡また,PCSは平均35.8であり,MCSは平均49.1であった｡以上より,RA患者は身体に強い痛みを伴っているため精神健康面より身体横能面において制限を有していることが分かった｡We have recently regarded the QOL as important. SF-36 is a measure of HRQOL made as an international standard. We investigated the QOL in RA patients who under went rehabilitation in our hospital using SF-36. We calculated 8 items of SF-36 and compared those with Japanese standards. All items in RA patients were lower than Japanese standards. PCS was 35.8 on average and MCS was 49.1 on average

QOL in LBP patients

近年QOLが重視されるようになってきている。MOS short form 36 health survey（以下SF-36と略す）は，国際的レベルでの基準とされるべく開発された非疾患特異的HRQOL尺度である。今回，我々は当院でリハビリテーションをうけている腰痛症患者を対象に温泉療法のQOLに対する効果をSF－36を用いて調べた。SFL36の8項目をそれぞれ算出し，温泉療法前後での比較を行った。PCSは41.1から43.6へ, MCSは49.1から5l.0へ上昇したことより，身体・精神面ともに効果があると考えられた。We have recently regarded the QOL as an important index in the treatment of disease. SF-36 is a measure of HRQOL made as an international standard. We investigated the QOL in LBP patients who underwent rehabiritation in our hospital using SF-36. We calculated PCS and MCS of SF-36. PCS went up from 41.1 to 43.6. MCS went up from 49.1 to 51.0. The spa therapy for LBP patients was effective

QOL in OA patients

近年QOLが重視されるようになってきている｡MOS short form 36 health survey(以下SF-36と略す)は,国際的レベルでの基準とされるべく開発された非疾患特異的HRQOL尺度である.今回,我々は当院でリハビリテーションをうけているOA患者を対象に温泉療法の効果をSF-36を用いてQOLの変化を調べたoSF-36の8項目をそれぞれ算出し,温泉療法前後でのQOLの比較を行った｡pCSは36.4から37.1へ,MCSは53.0から55.4へ上昇したことより,身体･健東面ともに効果があると考えられた｡We have recently regarded the QOL as an important index in the treatment of disease. SF-36 is a measure of HRQOL made as an international standard. We investigated the QOL in OA patients who underwent rehabiritation in our hospital using SF-36. We calculated PCS and MCS of SF-36. PCS went up from 36.4 to 37. 1. MCS went up from 53.0 to 55.4. The spa therapy for OA patients is effective

Early and long?term outcomes of endoscopic submucosal dissection for early gastric cancer in a large patient series

Endoscopic submucosal dissection (ESD) enables the curative resection of early gastric cancer (EGC); however, little information is available on the long-term outcomes of ESD. This study was conducted to clarify the clinical outcomes of a large number of patients with EGC who underwent ESD. The early outcomes were assessed in 1,209 patients and the long-term outcomes were assessed in 300 patients at a follow-up >5 years after the ESD procedure. The overall survival rates were compared between indication and expanded-indication groups, and between the patients who did or did not undergo additional surgery in an out-of-indication group. Overall survival rates were also compared among different age groups. In total, 617 lesions were classed as the indication group, 507 as the expanded-indication group and 208 as the out-of-indication group. Curative resection rates were 96.6% and 91.5% in the indication and expanded-indication groups, respectively. In terms of the long-term outcomes, 20 of the 146 patients in the indication group, 15 of the 105 patients in the expanded-indication group and one of the 23 patients who underwent additional surgery in the out-of-indication group succumbed due to causes other than gastric cancer. Among the 26 patients who did not undergo additional surgery in the out-of-indication group, 10 mortalities occurred, including one due to gastric cancer. The five-year survival rates were not significantly different between the indication and expanded-indication groups. In the out-of-indication group, the five-year survival rate for the patients who did not undergo additional surgery (65.0%) was significantly lower than that for those who did undergo additional surgery (100%) (P80 years (67.1%) was significantly lower than that of the younger patients (<60 years, 91.6%; sixties, 93.0%; seventies, 84.5%) (P<0.0001). In conclusion, although expanded-indication of ESD for EGC is appropriate, comorbidities require consideration in elderly patients

Comparison of the Effects on Rib Fracture between the Traditional Japanese Medicine Jidabokuippo and Nonsteroidal Anti-Inflammatory Drugs: A Randomized Controlled Trial

Jidabokuippo is a traditional Japanese medicine used for contusion-induced swelling and pain. This open multicenter randomized study was designed to compare the efficacies of jidabokuippo and nonsteroidal anti-inflammatory drugs (NSAIDs) in patients with rib fracture by analyzing the treatment duration. Our study involved 170 rib fracture patients capable of oral ingestion divided randomly into 2 groups: the jidabokuippo and NSAID groups. We compared the duration of treatment and healthcare expenditure between these 2 groups. Medication was continued in both groups until the visual analogue scale score decreased to less than 50% of the pretreatment score. We excluded the patients in whom medication was prematurely discontinued. We analyzed 81 patients belonging to the jidabokuippo and NSAIDs groups. No significant intergroup differences were observed in age, gender, severity (injury severity score), and presence/absence of underlying disease. The treatment duration was significantly shorter in the jidabokuippo group than in the NSAIDs group (P=0.0003). Healthcare expenditure was significantly lower in the jidabokuippo group than in the NSAIDs group (P<0.0001). Our results suggest that compared to NSAIDs, jidabokuippo can shorten the duration of treatment in patients with rib fracture and is a promising analgesic agent based on the medical economic viewpoint