An analysis of 1,012 cases of fetal and postnatal deaths with spina bifida during 1969-1974 is presented. Incidence of spina bifida was observed 0.79 per 10,000 total births. The incidence of spina bifida in fetal deaths and postnatal deaths seems to independent of maternal age. On the other hand, the incidence of spina bifida in fetal deaths seems to increase linearly with mother's age. The highest incidence of spina bifida was found in the Kyushu District, whereas the lowest value was found in the Hokkaido District. The incidence of spina bifda in May showed the highest value, and in October the lowest one. The incidence of spina bifida in class I (Agriculture only) of occupation of the heads of household showed the highest value, and in class III (Self employed) the lowest one. The rate of first cousin marriages among the parents of spina bifida was 1.63% which value was taken similar value for the general population.

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An analysis of 3,354 cases of fetal and postnatal deaths with congenital hydrocephaly during 1969-1974 is presented. Incidence of congenital hydrocephaly was observed 2.63 per 10,000 total births. The incidence was higher in rural (0.00031) than in urban (0.00025) area. The declining incidence was obtained during the period 1969 to 1974 inclusive. Seasonal variations were observed in 1970, 1973 and 1974. The greatest excess of observed over expected cases was seen in January-March. Parental consanguineous marriages for the 556 index patients with congenital hydrocephaly were examined from the koseki (the Japanese family register). The rate of first cousin marriages among the parents of congenital hydrocephalic patients was 3.06%. The rates were 2.76% in urban and 3.82% in rural area. The rate of first cousin marriages among parents of congenital hydrocephalic patients differed insignificantly from that in the general population. Thus, it seems unlikely that etiology of the abnormality is mostly attributed to a recessive gene or genes.

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In order to verify the hypothesis that the fetopathic actions of caffeine are linked with released catecholamines by caffeine in maternal or fetal tissues of mice (Fujii and Nishimura, 1974; Fujii, 1976), we investigated the effects of pargyline, a MAO inhibitor, and cocaine, which potentiates the action of catecholamines, on the fetopathy induced by caffeine. In the first experiment pregnant mice on day 13 of gestation were given a single oral administration of 50, 100 or 200mg/kg pargyline and immediately thereafter a single ip injection of 175mg/kg caffeine. In the second experiment pregnant mice on day 13 of gestation were treated sc with 10 or 20mg/kg cocaine and immediately thereafter 175 mg/kg caffeine. For making comparisons, the pregnant mice in the other groups received either distilled water, saline, pargyline 200 or 400mg/kg, cocaine 20 or 60mg/kg or caffeine 175 mg/kg in the same way as in the experimental groups. Fetuses were externally examined for abnormalities on day 19 of gestation. Administration of 400mg/kg pargyline or 60mg/kg cocaine, which were close to maternal toxic dosage levels, did not affect adversely embryonic development. The fetopathic effects of caffeine were significantly enhanced by combined treatment of pargyline at 100 or 200mg/kg or cocaine at 10 or 20mg/kg. These results suggested a possibility that a combination of pargyline or cocaine potentiated the action of the released catecholamines by caffeine and led to increased fetal abnormalities.

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Left hindlimbs of toad larvae were amputated at the femur level at five different larval stages. Polydactylia was manifest in high incidence only when the amputation was made at the end of the limb bud stage and digital anomalies in the regeneratively developed limbs were examined. To disclose the morphogenetic mechanism of this phenomenon, histological examinations of early regenerates, especially of their epidermal caps, were made, as well as anatomical observations of skeletons of polydactylous hindlimbs regeneratively developed. The results revealed that the regenerates in the larvae whose limb amputation was made at the end of the limb bud stage frequently had the irregularly thickened epidermal caps and that the shortening and thickening of long skeletal elements of the limb was associated with polydactylism. Metatarsalia and phalanges also showed various anomalies, such as thickening, fusion and/or split. Based on these findings, the mechanism producing the polydactylism was discussed.

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In order to evaluate feto-placental function in the presence of chromosomal anomalies the authors evaluated the placenta in three cases of Down's syndrome and four cases of the 18-trisomy syndrome. In the three cases of Down's syndrome investigated, the placenta was normal in one case and showed infarcts in the remaining two; one of the latter also demonstrated intervillous thrombosis in conjunction with congenital heart failure of the infant. In general, the placentas observed in the four cases of 18-trisomy syndrome were small with two showing infarcts and another intervillous thrombosis. In summary, placental infarcts were observed in 4 of 7 cases of genetic abnormality reported and intervillous thrombi occurred in 2 of 7 cases. Placental infarcts associated with normal neonates occurred 33% of the time and intervillous thrombi only 10% of the time. These findings indicate that circulatory disturbance of the intervillous space was more prominent feature in placentas associated with neonates possessing chromosomal anomalies.

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Four patients with mucopolysaccharidoses (MPS) - one each of type, II, IIIA, V and VI - received corticosteroids for progressive joint limitation; two of them were adults and were of normal intelligence. In the patient with MPS type II, we found a transient (within 2-5 days) increase in urinary polymeric GAG excretion followed by a modest but constant decrease during CORT ad-ministration and return to baseline after withdrawal of the medication. There was a marked increase in urinary excretion of GAG degradation products in this patient. The patient (case 2) with MPS IIIA did not have initial increase, but he did show from the beginning a constant decrease in urinary GAG excretion during CORT administration, however, he also had decreased excretion of degradation products. In the female patient (MPS V) receiving CORT a substantial increase in degradation products was associated with the menstrual phase, coinciding with small increase in polymeric GAG excretion. The patient with MPS VI had decreased excretion of degradation products. Administration of CORT caused a decrease of DS and increase in HS excretion in the mixed excretors (MPS type II and V), but there was no effect on the urinary GAG composition in the patients with MPS IIIA and VI. Generally, these patients showed some improvement in joint motion and in social behavior (case 1 and 2) while receiving CORT on alternate days.

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The effects of corticosteroid (CORT) administration to four patients with mucopolysaccharidoses (MPS), one each with MPS II, IIIA, V, and VI, on the glycosaminoglycan (GAG) content of plasma and leucocytes were examined. Plasma levels of GAG and GAG degradation products declined following initial increase in MPS II and IIIA and fluctuated throughout the investigation in MPS V and VI. The amount of polymeric GAG and degradation products in leucocytes from normal controls, as uronic acid, was about 3.5μg and 1.4μg per mg WBC protein respectively. The ratio of polymeric GAG to degradation products was lower in the patients as compared to the normal controls. Also, leucocytes from the patients contained, besides the normally present GAG, large amounts of heparan sulfate (HS) and/or dermatan sulfate (DS) depending on the type of MPS. During CORT administration, the amount of polymeric GAG in the leucocytes per mg of WBC protein, increased slightly in MPS II and VI and markedly in MPS IIIA and V; there was a large increase of degradation products in MPS II and a small decrease in MPS IIIA. It was concluded that during CORT administration the amount of GAG per WBC increased.

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