Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst

A Japanese patient with tuberous sclerosis (TSC), who manifested with multiple lung cysts and pneumothorax, is described. All exons of two TSC genes, TSC1 and TSC2, in peripheral blood leukocytes from the patient were analyzed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). A novel T-to-G transition was found in exon 19 of TSC2 at nucleotide position 2168. This mutation caused an amino acid change, L717R. There was no such mutation in any other family members or in 100 normal Japanese. An automated sequencer-assisted quantitative analysis of normal and mutated SSCP-bands revealed no loss of heterozygosity (LOH) in the lung cyst tissue of the patient.     

F213I突变型高雪氏病分子伴侣治疗方法的研究

目的 研究高雪氏病新的分子治疗方法。方法 用β-葡萄糖脑昔脂酶(β-glucocerebrosidase，β-Glc)(EC3．2．1．45)的底物类似物(glucocerebroside analogue，GCA)作为分子伴侣，处理体外培养的不同突变型的高雪氏病患者皮肤成纤维细胞，采用荧光酶学手段测定β-Glc活性；Western印迹杂交技术分析该酶蛋白表达的量；细胞双染确定β-Glc在细胞内的定位；薄层层析法分析葡萄糖脑苷脂的降解情况。结果 该酶的底物类似物GCA可以提高体外培养的F213I突变型患者成纤维细胞内β-Glc活性；增加该酶蛋白的表达量；促进该酶蛋白向溶酶体内转运，加速底物葡萄糖脑苷脂(glucocerebroside，GlcCer)的降解。结论低分子量的GCA作为一种分子伴侣可能为F213I突变型高雪氏病的治疗开辟一条新的途径。     

Usefulness and limitation of phylogenetic analysis for hepatitis C virus core region: application to isolates from Egyptian and Yemeni patients

Summary We report here the nucleotide sequences of the core region of HCV isolates from Egyptian and Yemeni patients and the method for classifying these HCV isolates by phylogenetic analysis. Sequence comparison suggested that the genotypes of these isolates were the same. Preliminary phylogenetic analysis of the HCV core region indicated that the genotypes of both isolates were 1c. However, an additional phylogenetic tree of the HCV core region constructed using a greater number of HCV isolates than that used in the preliminary analysis and on the basis of alignment of nucleotide sequences in an appropriate length indicated that the genotypes of these isolates were 4 and not 1c. For a more detailed analysis, the nucleotide sequences of the HCV E1 region as well as the core region for the same Yemeni patient were determined. A phylogenetic tree of the E1 region confirmed that the genotype of the HCV isolate from the Yemeni patient was 4. These data indicate that even when classifying HCV isolates using phylogenetic analysis, the misclassification would occur if care is not taken regarding the number and sequence lengths of the isolates included in the analysis.     

The effect of cyclophosphamide on an ocular immune response. I. Primary response.

The ocular inflammation and antibody production that follow intravitreal injection of rabbit eyes with bovine gamma globulin were suppressed by treatment with Cytoxan by the intramuscular (i.m.) route. The drug suppressed PFC responses of uveal tract and corneal cells when it was administered, beginning as late as 5 days after immunization, if treatment was continued until day 12 or 13. Short-term treatments and treatment with smaller Cytoxan doses were less effective. We noted a good correlation between the presence or absence of ocular inflammation, suppression of ocular PFC responses and depression of serum, aqueous humour and vitreous humour antibody titres. In some treatment groups ocular antibody production seemed to be completely suppressed, while in others antibody production was significantly delayed.     

Malignant mesenchymoma of the esophagus

This is a case report of a malignant mesenchymoma of the esophagus in a 50?year-old Japanese man. The tumor was a sessile polypoid mass showing a downward invasion limited to the submucosa of the esophagus. Histologically, the lesion contained rhabdomyosarcomatous and osteosarcomatous areas, in addition to an ill-defined fibrosarcomatous element. In contrast with reports of carcinosarcoma up to the present, this tumor lacked any invasive lesion of an epithelial malignancy. The morphogenesis of these tumor groups was discussed from a hamartoblastomatous standpoint. Acta pathol. jpn. 34: 925～933, 1984.     

Diversity of antisperm antibodies bound to sperm surface in male immunological infertility

PROBLEM: The presence of antisperm antibodies (ASA) in males can reduce fecundity, however, relationship between the two is disputed. This study was performed to investigate if there is diversity of ASA bound to sperm surface using immunobead test (IBT) combined with complement dependent sperm immobilization test (SIT). METHODS: The ASA bound to sperm surface were detected using the direct IBT (D-IBT) in 275 semen samples. In some cases with ASA detected by D-IBT, sperm immobilizing antibodies bound to sperm surface were also evaluated using direct SIT (D-SIT). RESULTS: The incidence of the immunoglobulin G (IgG), IgA, and IgM classes of ASA detected by D-IBT were 2.5, 1.8, and 0.4%, respectively. Totally, nine (3.3%) infertile men had ASA on the sperm surface. D-SIT was tested positive in four (66.7%) of six cases with ASA assessed by D-IBT. CONCLUSIONS: Some of the sperm-bound antibodies are associated with complement dependent sperm immobilizing antibodies, indicating that there exists a heterogeneity of sperm-bound antibodies. This result might be one of the reasons for the controversy about the relationship between ASA and immunological infertility in men.     

Evaluation of the drug lymphocyte stimulation test (DLST) with shosaikoto]

BACKGROUND: Our aim is to evaluate the significance of DLST by Shosaikoto. METHODS: We clinically evaluated 3 cases of drug-induced pneumonia assumed to be caused by Shosaikoto, and we performed DLST of Shosaikoto for healthy controls, and compared the data with drug-induced pneumonia cases of Shosaikoto. RESULTS: As clinical characteristics of 3 cases, 2 cases were positive for hepatitis C virus antibody, and 1 case was positive for DLST of Shosaikoto. The observed chest high-resolution CT (HRCT) findings showed hypersensitivity pneumonia (HP) pattern in all 3 cases. Prognosis was good in all 3 cases. DLST of Shosaikoto was positive in 27.5% of healthy controls. Stimulation index (S.I.) of DLST in drug-induced pneumonia cases increased depending on drug dilution density, compared to that of healthy controls. CONCLUSION: DLST of Shosaikoto showed high false-positive rate. However, we may be able to distinguish the true-positive cases with the false-positive cases by comparing the S.I. of DLST according to drug dilution density.     

Physical training and fasting erythrocyte activities of free radical scavenging enzyme systems in sedentary men

Summary Effects of 10 weeks of physical training on free radical scavenging enzyme systems in erythrocytes were investigated in 7 sedentary healthy male students. The training consisted of running over 5 km, 6 times/week. Their maximum oxygen uptake and 12 min walk-run performance increased significantly after training. Of the antioxidant enzyme systems examined in the erythrocytes, both catalase activity and concentration and total glutathione reductase (GR) activity also showed significant increases following the training. The erythrocyte GR activity coefficient also increased significantly. These results suggest that chronic aerobic exercise increases riboflavin requirements and has some positive effects on antioxidative processes.