REP-1 gene mutations in Japanese patients with choroideremia

· Background: Choroideremia (CHM) is an X-linked progressive dystrophy of the choroid, retinal pigment epithelium, and retina. Recently, the REP-1 gene was isolated and the causative mutations in the gene were detected in patients with CHM. In a previous study, we described a Japanese family with CHM who had a mutation in the REP-1 gene. In the present study, we performed extensive analysis of the REP-1 gene in patients with CHM from several institutions in Japan. · Methods: Twenty-six patients with CHM and 5 unaffected females from 22 independently ascertained families were examined. Exons 1–15 of the REP-1 gene were screened by single-strand conformation polymorphism. The DNA fragments suspected of any variations were directly sequenced. · Results: Fifteen different mutations, including one previously reported mutation, were detected in 18 families. In addition, carrier status was proven in four unaffected females found to be heterozygous for the mutant allele. · Conclusions: Fifteen different mutations of the REP-1 gene were detected in 18 Japanese families. There were no hot spots for the mutations and no missense mutations. The results show that REP-1 gene defects cause CHM in Japanese patients, and the mutations in these Japanese patients differed from the mutations reported for CHM patients in Europe, Canada, and America except for R267X and 1313delTC. These findings suggest that the mutations occurred independently in the Japanese patients. Received: 13 August 1998 Revised version received: 16 November 1998 Accepted: 9 December 1998     

Knee pain and its associations with age,sex, obesity,occupation and living conditions in rural inhabitants of Japan

Factors associated with knee pain were investigated using 871 self-administered questionnaires (405 men and 466 women) from residents aged over 30 years in a rural area of Japan. The prevalence of knee pain increased with age, particularly in women over 50. It was significantly higher in women than in men. Body mass index (BMI) was significantly related to knee pain in women, though not in men. With reference to occupational factors, frequent heavy lifting on the job was significantly associated with knee pain in both men and women, whereas job-related standing and walking showed no such relationship. As for living conditions, residence on rather steep mountain slopes and the habit of sitting on Japanese tatami mats were significant factors related to knee pain in men, but not in women. There was no association of knee pain with the style of toilet (Japanese or Western). After controlling for all significant factors by multiple logistic regression analysis, age, heavy lifting, and residence on steep slopes were found to be independent factors related to knee pain in men; and age, BMI, and heavy lifting were the factors in women.     

Three-dimensional observations on microvascular growth in rat glioma using a vascular casting method

The microvascular growth of ethylnitrosourea-induced rat glioma was observed using vascular casting and scanning electron microscopy (SEM). Light microscopy showed central necrosis and marginal invasive tumor cell growth with increased vascularity, and suggested that adopted pre-existing circulation was dominant in the inoculated brain tumors. In SEM, numerous buds or nodular protrusions and a few large and tortuous vessels along the tumor margin were seen at the early stage. In the intermediate stage, microaneurysms, buds with septum formation and anastomotic arches appeared, and these tumor vessels became more tortuous and larger, and extended as the tumor grew. Several "potato-shaped" huge vessels and linear nodular large vessels also appeared. In the late stage, glomeruli appeared and potato-shaped huge vessels increased in number. The neovascularization and microvascular growth of the tumors was characterized by three patterns: (a) growth of the parent vessels forming buds, (b) vascular growth in a meshwork formation producing glomeruli, and (c) vascular enlargement without a definite pattern creating potato-shaped huge vessels. The tumor vessels gradually lost their natural three-dimensional structure.     

Nationwide survey on complementary and alternative medicine in cancer patients in Japan.

PURPOSE: To determine the prevalence of use of complementary and alternative medicine (CAM) by patients with cancer in Japan, and to compare the characteristics of CAM users and CAM nonusers. PATIENTS AND METHODS: A questionnaire on cancer CAM and the Hospital Anxiety and Depression Scale were delivered to 6,607 patients who were treated in 16 cancer centers and 40 palliative care units. RESULTS: There were 3,461 available replies for a response rate of 52.4%. The prevalence of CAM use was 44.6% (1,382 of 3,100) in cancer patients and 25.5% (92 of 361) in noncancer patients with benign tumors. Multiple logistic regression analysis determined that history of chemotherapy, institute (palliative care units), higher education, an altered outlook on life after cancer diagnosis, primary cancer site, and younger age were strongly associated with CAM use in cancer patients. Most of the CAM users with cancer (96.2%) used products such as mushrooms, herbs, and shark cartilage. The motivation for most CAM use was recommendation from family members or friends (77.7%) rather than personal choice (23.3%). Positive effects were experienced by 24.3% of CAM users with cancer, although all of them received conventional cancer therapy concurrently. Adverse reactions were reported by 5.3% of cancer patients. CAM products were used without sufficient information by 57.3% of users with cancer and without a consultation with a doctor by 60.7% of users. CONCLUSION: This survey revealed a high prevalence of CAM use among cancer patients, without sufficient information or consultation with their physicians. Oncologists should not ignore the CAM products used by their patients because of a lack of proven efficacy and safety.     

Gastric adenosquamous carcinoma producing granulocyte-colony stimulating factor

We report a case of adenosquamous carcinoma of the stomach that produced granulocyte-colony stimulating factor (G-CSF). The patient, who had an admission diagnosis of advanced gastric cancer, had marked leukocytosis without evidence of infection. After leukemia and metastatic leukemoid reaction were excluded by bone marrow examination, a G-CSF-producing cancer was suspected as the cause of the abnormally elevated serum G-CSF level. The resected stomach tumor was histologically diagnosed as adenosquamous carcinoma; positive expression of G-CSF by tumor cells was shown with immunohistochemical detection, which confirmed the preoperative diagnosis. Recurrent disease in the liver and lymph nodes, accompanied by leukocytosis and re-elevation of serum G-CSF, developed just 3 months after the curative gastrectomy and adjuvant chemotherapy. All of the recurrent disease was resected, restoring normal levels of serum G-CSF. The patient survived for almost 2 years after the initial surgery with extensive chemotherapy, including weekly treatment with paclitaxel, before finally succumbing to liver failure secondary to extensive liver metastasis.     

A comparison of patient-reported outcomes and arthroscopic findings between drilling and autologous osteochondral grafting for the treatment of articular cartilage defects combined with anterior cruciate ligament injury

BackgroundTo compare the patient-reported outcomes and arthroscopic findings between drilling and autologous osteochondral grafting (AOG) for the treatment of articular cartilage defects combined with anterior cruciate ligament (ACL) injuries.MethodsThe subjects were 40 patients who had articular cartilage defects in the weight-bearing part of the medial and lateral femur condyle combined with ACL injuries that were treated by drilling (20 patients) or AOG (20 patients) at the same time as ACL reconstruction was performed. In the drilling group patients, lesions were penetrated with multiple 1.2-mm Kirschner wires, and in the AOG group patients, grafts were made to cartilage defects from one to three osteochondral pegs harvested from the less-weight-bearing periphery of the articular surface of the femoral condyle. The patient-reported outcomes were assessed using the International Knee Documentation Committee (IKDC) subjective knee examination score. Second-look arthroscopy was performed to evaluate the repaired cartilage macroscopically.ResultsThe median follow-up duration was 25 (range, 12–42) months. The IKDC scores were significantly improved from 64.4 to 95.4 points in the drilling group and from 52.3 to 94.3 points in the AOG group, with no difference between the two groups, although there was a difference in the repaired cartilage findings of arthroscopy.ConclusionIn this study, no differences in IKDC scores were found in patients with a concomitant ACL rupture and an osteochondral lesion treated by drilling or AOG at a minimum follow-up of 1 year, regardless of the differences at arthroscopic grading of the ICRS classification.Level of evidenceCase–control study (LEVEL III).     

Bonding performance and interfacial characteristics of short fiber‐reinforced resin composite in comparison with other composite restoratives

The purpose of this study was to investigate the shear bond strength (SBS) and surface free‐energy (SFE) of short fiber‐reinforced resin composite (SFRC), using different adhesive systems, in comparison with other composite restoratives. The resin composites used were everX Posterior (EP), Clearfil AP‐X (CA), and Filtek Supreme Ultra Universal Restorative (FS). The adhesive systems used were Scotchbond Multi‐Purpose (SM), Clearfil SE Bond (CS), and G‐Premio Bond (GB). Resin composite was bonded to dentin, and SBS was determined after 24 h of storage in distilled water and after 10,000 thermal cycles (TCs). The SFEs of the resin composites and the adhesives were determined by measuring the contact angles of three test liquids. The SFE values and SFE characteristics were not influenced by the type of resin composite, but were influenced by the type of adhesive system. The results of this study suggest that the bonding performance and interfacial characteristics of SFRC are the same as for other composite restoratives, but that these parameters are affected by the type of adhesive system. The bonding performance of SFRC was enhanced by thermal cycling in a manner similar to that for other composite restoratives.