Chromosome analyses by high-resolution banding techniques were performed on two patients with juvenile onset type insulin dependent diabetes mellitus (IDDM) in order to investigate the existance of the structural chromosome aberration. These patients were diagnosed as IDDM according to the difinition established by WHO. A previous study by the authors revealed that some IDDM patients had a no.9 chromosome with deleted heterochromatin on its long arm (9 qh-). In the present study, one of these patients was chosen among those who had 9 qh-, while the other without 9 qh-. A person without IDDM was selected as a control. Since non-overlapping chromosomes were rarely obtainable from high-resolution preparation and the resulting banding patters showed considerable technical variations, the comparisons were made using several cells for one region of each chromosome. In analyzing the bands, the authors referred the diagram of high-resolution banding patterns established in ISCN (1981)(An International System for Human Cytogenetic Nomenclature-High-Resolution Banding (1981)). Chromosome numbers 6, 9 and 11 which bear the HLA locus, heterochromatin and insulin gene respectively were given special attention because these have been suggested to have some relations to the onset of IDDM. The banding patterns of these three subjects showed no difference except for the normal variations of heterochromatins. In high-resolution banding patterns of approximately 850 bands, no structural chromosome aberration was detected in IDDM patients.

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Clinical investigation of electromyography (EMG) of the internal anal sphincter muscle (IAS) was done in 15 children, who did not have ano-rectal diseases, during examination or operation for their own disease. Consent was obtained by themselves or their parents before examination of EMG. In resting state, the electrical activity of the IAS was observed with a frequency of 10 to 36 per min and an amplitude of 25 to 500 microvolts. No remakable change of EMG of IAS was seen under the condition of maintenance anesthetic level keeping good circulation and respiration. Muscle relaxant could not alter the basic pattern of EMG of IAS. There was no relationship between the electrical activity of IAS and the age of children in present investigation. By rectal distension, inhibition of IAS was elicited and anal canal pressure was decreased. Reappearance of the activity of IAS produced increase of anal canal pressure. EMG of IAS will be useful as an objective clinical examination of defecation.

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Duchenne muscular dystrophy (DMD) is a fatal hereditary disease resulting from a sex-linked gene, but its position on the genetic map and products derived from the gene have not yet been elucidated. Females with DMD are rarely seen. In all six published reports of affected females carrying an X-autosome translocation, the breakpoint in the X chromosome has been at Xp21, although the autosome involved differs in every patient. This finding has suggested that the locus for DMD is at or very near Xp21. Although most DMD patients are males, chromosomal aberrations have not yet been observed in affected males. Moreover, aberration on X chromosome of obligatory heterozygotes for DMD has also never been detected. Using C-banding and high-resolution chromosome banding techniques, we examined the chromosomes of twin boys with DMD and their healthy parents, but we could not detect any chromosomal aberration in relation to DMD, although a deficiency of 16 qh- in C-banding pattern was observed in a patient and his father. Most of the affected males are probably due to small deficiencies or base pair substitutions of DNA.

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In order to make a genetic epidemiological study on the seasonal variation of the incidence by month of juvenile onset insulin dependent diabetes mellitus, an analysis was attempted using the Maruyama's data on 191 cases with onset in Tokyo between 1952 and 1983 and the data of Hibi et al. on 1441 cases of IDDM with onset between 1950 and 1981 selected from their survey on juvenile diabetes in all Japan. 1. A statistically significant association was observed between yearly changes and monthly and seasonal variation in the incidence of IDDM (Data of Maruyama). 2. A statistically significant association was demonstrated between the incidence of IDDM by month and onset age (Data of Hibi et al.). 3. Under the assumption that the incidence of IDDM by month is the same throughout the year, the difference between the observed value and the expected value was tested and in the data of Hibi et al a level of statistical significance could not be attained for those whose onset age was 0-3 years and 4-7 years, but a level of statistical significance could be reached for those whose onset age was 8-11 years and 12-15 years. In the data of Maruyama, the difference between the observed value and the expected value was not statistically significant in any age group. This is considered to be attributable to the paucity of cases. 4. Next, an analysis was made on the incidence of IDDM without any regard to age or year of onset. The data of Hibi et al. demonstrated a statistically significant seasonal variation, but the data of Maruyama having a small number of cases did not reveal any significant association between incidence of IDDM and seasonal variation. However, when the error in incidence by month is taken into consideration in both data, the seasonal incidence curves showed a similar tendency. The incidence of IDDM tended to be low from June to October and to be high from December to March. 5. As an association was observed between the incidence of IDDM and seasonal variation and between seasonal variation and prevalence of influenza, in order to examine the seasonal variation in the association between incidence of influenza and onset of IDDM, the correlation between the incidence of influenza by month and the onset of IDDM was analyzed with consideration given to slippage of month at onset with the term of onset assumed to be one cycle from January to December. The slippage of the month of onset of influenza and that of IDDM was 3-6 months with the data of Maruyama and 0-2 months with the data of Hibi et al, demonstrating a high correlation.

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S-dependent clastogens are usually not capable of inducing chromosome-type aberrations when they are treated to cells in G_1 phase of the cell cycle. Preston & Gooch, however, showed that cells treated in G_1 with cytosine arabinoside, an inhibitor of DNA synthesis, after pretreatment with S-dependent clastogens such as 4NQO or MMS were induced chromosome-type aberrations. This phenomenon is interpreted as follows : The capacity of cells to repair DNA damages induced by S-dependent clastogens in G_1 phase is too slow for repairing DNA to interact with each other. But when an inhibitor of DNA synthesis acts as a repair inhibitor and as the result, repair synthesis of DNA is inhibited, simultaneously reparing sites of DNA would increase and they would interact with each other. To study the mechanisms of induction of chromosome-type aberrations, it is interesting to investigate whether other inhibitors of DNA synthesis have similar effects of inducing chromosome-type aberrations. In the present study, human peripheral lymphocytes were pretreated with 4NQO or MMS followed by culture in the presence of an inhibitor of DNA synthesis in G_1 phase. As inhibitors, cytosine arabinoside, hydroxyurea, 5-fluorodeoxyuridine, excess thymidine and caffeine were used. Dicentric and ring chromosomes were scored in cells in their first mitoses after the treatment. Among inhibitors tested, Ara C was the only drug which induced chromosome-type aberrations. Considering the mechanisms of the inhibition of DNA synthesis by drugs tested, it was suggested that inhibition of DNA polymerase α would be responsible for the induction of chromosome-type aberrations.

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[in Japanese]

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We have already reported that platelet aggregation, prostanoids, β-thromboglobuline and platelet factor 4 can be indexes of the presence and progress of atherosclerosis. On the other hand, recently we experienced a case of pheochromocytoma where the comparative study of those indexes before and after surgical removal of the tumor could be successfully performed, along with electrocardiograms and ultrasonocardiograms. As a result, it was found that both those parameters and records showed marked improvement after the extirpation. This communication was attempted therefore to report the imortance and the significance of above indexes.

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This report consists of a clinical and autopsy study of an esophageal malignant leiomyoblastoma with comments of a 60 year-old man who was admitted to the Second Department of Surgery, Kyorin University Hospital with chief complaints of dysphagia and swellings of the cervical and left axillar lymph nodes lasted for the 1 ast 2 months. His general condition was very poor and he expired 9 days after the ad mission to the hospital. Postmortem examination revealed an ulcerative tumor mass, 11.5×4cm in two dimensions, occupying the upper and middle thoracic esophagus. The newgrowth, penetrating the esophageal wall, formed a large nodular tumor mass around the trachea and the main bronchi, and extended upwards into the thyroid glands. There were metastases to liver, lungs, adrenal glands and lymph nodes in the cervical and left axillar regions as well. Microscopically, the newgrowth was composed of clear cells with vacuolar cytoplasm and large vesicular nuclei containing a distinct nucleolus. The tumor cells were arranged in alveolar or sheet-like fashion. Mitoses were not uncommon, and those were especially marked in the metastatic foci. On electron microscopy, the dense bodies were demonstrable attaching to the filamentous composition in the cytoplasm of the tumor cells. There was no formation of desmosome between the tumor cells. Because of the rarity of the malignant leiomyoblastoma arising from the esophagus, its biological behavior will remain obscured without the cumulative case studies. Therefore, we hope the present report will add some little evidence for the future study of the malignant leimyoblastoma cases.

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[in Japanese]

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