[in Japanese]

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As the first step for the study on nucleic acid metabolism in amyotrophic lateral sclerosis (ALS), regional concentrations of deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) were estimated quantitatively in several areas of the cerebral cortex and spinal cord of 2 patients with ALS and 7 control subjects with non-neurological diseases. Obvious increase in the content of DNA and reduction of the ratio of RNA to DNA were observed in the anterior horn, and anterior and lateral funiculi of the ALS spinal cord. These changes may indicate some alteration in cell type present in the tissue. On the other hand, no significant changes were seen in the content of nucleic acids in the ALS motor cortex. This might suggest that the total amounts of DNA and RNA do not change, probably because of a balance between reduction of nerve cells and proliferation of glial cells in the ALS motor cortex. In general, histopathological changes are much milder in the motor cortex of ALS, as compared to those in the spinal cord. In a sense the disease process in the motor cortex is considered to be in comparatively early stages. These results indicate that biochemical studies in the ALS nervous system should be performed in cell level by using the motor cortex as a material.

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In accordance with the Classification of Breast Carcinoma proposed by the Japan Mammary Cancer Society (J. M. C. S.) and the new classification by WHO, a review was made on prognosis and recurrence of various histological types of breast carcinoma that were treated in the Kyorin University Hospital from 1971 to 1978. The five-year survival rate for 69 cases of breast carcinoma was 75%. This series of study includes 4 cases of papillotabular carcinoma, 42 cases of medullary tubular carcinoma and 19 cases of scirrhous carcinoma based on the Japan Mammary Cancer Society classification. The five-year suvival rate was 100% for the group of papillotabular carinoma, 70.7% for that of medullary tubular carcinoma and 73.7% for that of scirrhous carcinoma. Based on the WHO classification, 64 cases were invasive ductal carcinoma and their five-year survival rate was 73.4%. In the cases of this series of study, papillotubular cacinoma, either non-infiltrative or infiltrating, and special types of carcinoma were comparatively few in number. Their prognosis was excellent and no case died of recurrence during the period of 5 years of follow up study. Medullary tubular carcinoma and scirrhous carcinoma (J. M. C. S.) can be put into the category of invasive ductal carcinoma in the WHO classification. Recurrence deaths occurred more frequently in medullary tubular carcinoma than in scirrhous carcinoma. The clinical stage rather than the histological type has a great influence upon the prognosis of patients. The survival period of medullay tubular cprcinoma after surgical operation up to death by cancer recurrence was, on the average, one year longer than that of scirrhous carcinoma. In medullary tubular carcinoma, recurrence occurred frequently by lung, bone and brain metastasis. However, lymphnode metastasis was prominent in scirrhous carcinoma. Local recurrenece was observed in only one case.

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The deep body thermometer (DBT) originally reported by Fox & Solman has been improved by Togawa et al., and their DBT is now commercially available supplying useful data in clinical survey. However, its initial response time is comparatively long when it is attached on the skin surface, because of the large heat capacity of the probe. In the new DBT, a heat flow sensor is used instead of two thermistors in the previous DBT. The sensor is so thin (0.6-mm-thick) that a thinner and lighter probe can be designed and then the response characteristic is improved. In this system, the heat flux from the skin is detected by the sensor, and a heater is controlled to make the heat flux null (zero-heat-flow method). Thus, the skin surface is thermally insulated and, consequently, the deep body temperature can be measured on the skin surface by the thermocouple mounted on the heat flow sensor. The initial response time of this DBT is less than half of the previous one. Moreover, the probe contacts well with the skin because of its thinness and lightness.

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Duchenne muscular dystrophy (DMD) is a fatal hereditary disease resulting from a sex-linked gene. However, its position on genetic map and any products derived from the gene have never been known. We investigated siblings and parents of the probands with DMD for Xg blood group, color-blindness and DMD in forty-nine pedigrees in the south Kyushu district. The following genetic analyses were carried out. Since the observed rate of segregation on DMD was rather lower than the expected one, incomplete penetrance of DMD was considered in all analyses. Any significant linkage could not be detected between the loci for DMD and Xg blood group. The test of linkage between the loci for DMD and color-blindness could not be carried out because of very low frequency of color-blindness in the pedigrees. Mutation rate of DMD was estimated as 1.935×10^<-4> to 2.224×10^<-4> (/locus/generation), which was a little overestimated. The mutation rate of DMD may be presumably much higher than those of other X-linked diseases. More effort is required to clarify the reason for the high mutation rate and to discover the genetic cause of this disease.

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The blood levels of the platelet releasing substances β-TG and PF4 (Platelet factor 4) were determined in arteriotics and healthy individuals. The diseased subjects consisted of 15 patients with myocardial infarction, 18 patients with cerebral infarction, and 27 patients with angina pectoris in average age range 67.6±7.2 years, and the healthy group consisted of 40 individfals with an average age of 37.9±6.4 years. The mean blood levels of β-TG and PF4 for group of arteriotics were 39.5±21.4 ng/ml and 10.4±14.7 ng/ml, respectively, as opposed to the corresponding values of 28.1±6.73 ng/ml and 4.80±1.71 ng/ml for the healthy group. In summary, the blood levels of both β-TG and pF 4 were significantly higher in the arteriotics than the healthy subjects. It shoud be noted, however, that the blood levels of platelet releasing substances were higher in patients with myocardial infarction and cerebral infarction than in healthy subjects, but were not significantly elevated in angina pectoris patients. β-TG and PF 4 were correlated with each other not only in arteriotics but also in healthy subjects.

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Na^+, K^+-ATPase is molecular and enzymatic aspect of Na pump which actively transports sodium ions outwards and potassium ions inwards across the animal cell membrane. In recent years, relationship between the alteration of human erythrocyte Na^+, K^+-ATPase and various diseases has come to be focused on. The alteration of Na^+, K^+-ATPase can be defined by the quantitative (number of site) and qualitative (activity) differences of Na pump in erythrocytes. The number of Na pump (Na^+, K^+-ATPase) was measured by [^3H] ouabain binding and the activity of Na pump was measured by ouabain sensitive ^<42>K^+ or ^<43>K^+ influx into erythrocytes. The accurate methods of measurements have been established in this study. In normal adults, maximum ouabain binding (B_<max>) and K_d for ouabain were 336±50 site/cell, 4.3±0.9nM, respectively, and the maximum velocity of K^+ influx (V_<max>) and K_m for potassium were 163±23nmol/hr/10^9 cells, 2.2±0.6 mM, respectively. B_<max> in female (367±56site/cell) was significantly higher than that in male (309±22)(p<0.01).

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It has been reported that the metabolic abnormalities in diabetes affect the erythrocyte deformability and membrane fluidity. While recent studies have characterized the changes of Na^+, K^+-ATPase on erytrocytes in obesity and thyroid disease, little work has been done concerning the enzyme in diabetes. In diabetic erythrocytes, therefore, the number of Na pump and the activity of pump, which are two basic parameters defining the Na^+, K^+-ATPase in erythrocytes, were measured by [^3H] ouabain binding and by ouabain-sensitive ^<42>K^+ or ^<43>K^+ influx, respectively, and the turnover rate of the pump was calculated from them. Furthermore, the effects of insulin on Na^+, K^+-ATPase were studied in both membrane preparations (red cell ghosts) and intact cells. There was no significant difference between normal and diabetic groups in the number of Na pump, though large variation of the pump number was observed in the diabetic group. The cation transport activity of the pump was found to be lower in the diabetic group (p<0.05). The turnover rate was not significantly different between two groups because of the large variation of the pump number. Addition of insulin to the reaction medium containing the erythrocytes from normal and diabetic groups revealed no effect on the number of ouabain binding and K^+ influx. Insulin also had no effect on Na^+, K^+-ATPase activity in red cell ghosts. The present data suggest that the activity increase of erythrocyte Na pump in diabetes mellitus would be due to a possible increase in cation permeability associated with the membrane abnormalities, but not due to direct effect of insulin.

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There has been considerable prgrees recently in the hemodymamics of the flap. Especially, the development of the axial pattern flap and the musculocutaneous flap is highly appreciated in the reconstruction of the various kinds of the tissue or organ defects. In this paper we presented our satisfactory result of 7 cases of thh secondary esophageal reconstruction using these flaps. The DP flap alone was used in 2 cases, pectoralis major MC flap alone in 2 cased, combined DP flap and pectoralis major MC flap in 1 cases, and rectus abdominis MC flap in 2 cases. Every patient was undernourished and 4 out of the 7 cases were above 70 years old exhibiting some degrees of arteriosclerosis. The skin in the operative field was in rather bad condition due to radiation dermatitis and/or contact dermatitis caused by digestive fluids from the esophagostomas. The primary esophageal diseases were malignant in 5 cases and benign in 2 cases. Oral fluid intake was started 2 weeks postoperatively in average except for one case who died due to distant metastasis. The possible future subjects of the flap reconstruction of the esophagus are ulceration, malignant degeneration, and pruritus due to contact dermatitis.

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The majority of malignant tumors of the esophagus are squamous cell carcinoma and the incidence of the other malignant tumors is very low ; especially rhabdomyosarcoma is quite few. On reviewing the literapure, 15 cases of esophageal rhabdomyosarcoma have been reported up to now. Of these, only in 6 cases, including our own, the intracytoplasmic cross-striation was able to be demonstrated microscopically. The patient, a 60-year-old male, was admitted to the Kyorin University Hospital, Second Department of Surgery, with chief complaints of progressive dysphagia and a decrease in body weight. On physical examination, fever, up to 37.9℃, and leukocytosis were noted. No other symptoms were seen. Esophagogastric X-ray examinations revealed a polypoid lesion, 8 cm in length, extending from the lower intrathoracic to the abdominal esophagus and the cardia of stomach. On esophagoscopic examination, an ulcerated, polypoid mass was found protruded from the right wall of esophagus about 35 cm distant from the upper incisor teeth. Biopsy specimens were obtained from this tumor mass, but failed to confirm the essential nature of this malignant tumor. Pre-operative irradiation of 2, 700 rad and chemotherapy of Bleomycin 50 mg were applied. Then, the patient was surgically operated upon, when the intra-thoracic esophagus was removed through right thoracotomy. Clinically, the neoplasm was in the Stage IV, A_3. N_3. Simultaneous reconstruction was performed by pulling up a gastric tube from the retro-sternal route. Nine weeks later, the patient expired. An ulcerative bulging tumor mass was observed extending from the lower esophagus to the cardia of stomach. Besides, a tumor mass, 8×4×2 cm in size, was seen adherent to the adventitia protruding to the lateral wall of esophagus. Furthermore, several satellite nodules were scattered in the wall of proximal esophagus. Histologically, cross-striations were demonstrated in the tumor cells by PTAH staining.

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Rubinstein et al. (1977) have reported that insulin dependent diabetes mellitus (IDDM) has a recessive genetic character with penetrance of 50%. According to studies made on twins (Barnett et al. 1981, Kikuchi et al. 1982) and an analysis made on family data (Furusho et al. 1983), it is almost an unmistakable fact that IDDM has incomplete penetrance and that penetrance of IDDM is low. Taking into account foregoing, the author has developed a method of estimating 1) the penetrance, 2) the gene frequency of genetic character of incomplete penetrance and 3) the inheritance mode from twin data. In 1), the estimate of penetrance reveals a range of 0.0444 to 0.0888 from family survey data, of 0.3 to 0.5 from IDDM and HLA data, and is 0.5000&acd;0.7048 from twin data. Consideration has been also made for the high estimate of penetrance from twin data. By using the concordance rate of monozygotic twins (C_1) and of dizygotic (C_2), evaluation of simple dominant inheritance was made when (C_1/C_2)&cong;2, simple recessive inheritance when (C_1/C_2)&cong;4, and multifactor inheritance when (C_1/C_2)>4. The possibility of therapy still remains for genetic character of low penetrance, such as IDDM in particular. Since penetrance is extremely important from the standpoint of clinical medicine of IDDM, the author discussed the significance of estimating penetrance with high precision.

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