HLA antigens in mucocutaneous lymph node syndrome.
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Biomedical subjects
Publications and source records attributed to I Matsuda.
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The Takaoka respiratory was used during lumbar pneumoencephalography in 12 patients in a rotatory chair of X-ray apparatus. Anaesthesia and ventilation were maintained with oxygen or 50% nitrous oxide in oxygen supplemented by neuroleptanalgesia. The mean minute volume of ventilation was 84.5+/- 5.4 ml/min/kg and the mean respiratory rate was 8.5 +/- 1.7 breaths/min. Under these ventilatory conditions the blood gas data were acceptable (PaCO2: 35.0 +/- 4.3 torr). The Takaoka respirator can be fixed to the rotatory chair with no risk of accidental disconnection and there is no disturbance of the general monitoring or of the manipulations of the X-ray technicians. I provides adequate ventilation independent of position.
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Thrombocytopenic purpura with reduced megakaryocyte count in bone marrow was found in a very early phase of a mumps infection in a one year 9 months old boy. No antithrombocyte antibodies were detected. Three weeks later, the mumps antibody titer in the serum was significantly elevated, and thrombocyte and megakaryocyte counts returned to normal.
Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.
A simple and relatively rapid as well as highly reproducible determination of beta2-microglobulin is described for general laboratory use. The method is based on a solid-phase radioimmunoassay paper discs as a solid-phase material. The assayable range is approximately in the range of 2 ng to 20 mug of beta2-microglobulin with a precision of approx. 5 percent. This assay requiring only 0.05 ml of urine can be completed within 20 h. Urine in cadmium-exposed workers and residents in cadmium-polluted districts including patients with itai-itai disease were examined and considerable amounts of beta2-microglobulin were observed in these urines.
The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.
A male child with chronic granulomatous disease is described in whom glutathione peroxidase deficiency of leukocytes was identified. Stability and activity of G-6-PD and activity of NADPH oxidase were normal. The leukocytes of the parents showed intermediate activities of glutathione peroxidase, suggesting the possibility of autosomal recessive inheritance.
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Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism.
The skin, brain, lung, liver, and kidney from a 20-week-old fetus who was diagnosed as having fetal I-cell disease by amniocentesis at 14 weeks of gestation were examined by light and electron microscopy. In addition, cultured fibroblasts from the skin were also observed microscopically. Cytoplasmic inclusions with dense polymorphic contents appeared commonly in the capillary endothelial cells in the skin, lung, glomerulus of the kidney, and the epithelial cells of proximal tubules of the kidney, and sometimes in the hepatocytes of the liver and the nerve and glial cells of the brain. Erythropoietic cells in the liver and circulating erythrocytes contained dense inclusions varying in developmental stages. Fibroblasts of the skin had several clear vacuoles, and cultured fibroblasts were filled with dense inclusions. The dense cytoplasmic inclusions in fetal I-cell disease were light and electron microscopically similar to the residual bodies which are commonly observed in the phagocytic cells.
A 5-year old boy with intermittent sopor, severe vomiting and ataxia since 2 1/2 years old was described. During attack period the patient showed elevation of blood pyruvate and alanine and also cerebrospinal-fluid pyruvate, whereas during the time free from attack only blood pyruvate was increased. Deficiency of pyruvate decarboxylase was found in patient's leukocyte and in cultured skin fibroblasts. Addition of thiamine in assay medium did not correct the enzyme activity. Oral administration of citrate seemed to be most effective and during the treatment only a mild attack was once observed.
This paper describes a dermoid tumor which developed in the dorso-lateral area of the left cerebellar hemisphere. It is the first to be reported in Japan. The patient was a 31 year old female who suffered from severe occipital headaches, frequent vomiting and gait disturbances. Neurological findings on admission included marked bilateral choked discs, horizontal nystagmus on gaze to the left, and poor coordination on the finger to nose test, nose-finger-nose test and and heel-shin test on the left side. Left suboccipital craniectomy was performed. A tumor was found which displaced the left cerebellum anteromedially and inferiorly. The postero-lateral surface of the tumor was adherent to the overlying dura matter. It was completely removed and found to be about the size of a hen's egg. It contained a yellow, porridge-like substance and short hairs. Histological examination of the capsule of the tumor showed stratified squamous epithelium and cutaneous structures, such as hair follicles and sebaceous glands. The diagnosis was dermoid tumors. We could find as many as 78 cases of the posterior fossa dermoids in the literature. In 72 cases (92.4%), the mass existed along the midline in the posterior fossa. The dermoids developed in the cerebellar hemisphere were reported in only 6 cases (7.6%) including the present case. Laterally growing dermoids are considered to be very rare. The pathogenesis is discussed and the literature reviewed.
Aneurysms were produced experimentally with vein patch grafts on the carotid artery in the neck in rats. Aneurysms created at the bifurcation of the common carotid artery had a greater tendency to enlarge than did those on the trunk of the common carotid artery. Four aneurysms on the carotid trunk thrombosed; none did so at the bifurcation. The aneurysms ruptured in nine cases, more often when they were covered with oxycell than when they were not. Experimental aneurysms were also produced on the middle cerebral arteries in dogs.
A case of association of meningioma and four intracranial arterial aneurysms including one giant aneurysm is reported, and the available literature reviewed. The operative mortality of patients with coexistence of brain tumor and cerebral aneurysm is very high (40%). When the aneurysms are multiple, eight out of ten patients expired after operation. Association of a giant aneurysm and brain tumor is exceedingly rare. The present case seems to be the fifth reported case.
A pregnancy from a family in risk of I-cell disease was monitored. The fetus was diagnosed as having I-cell disease based on the findings that (1) lysosomal enzyme activities except for acid phosphatase and alpha glucosidase were clearly elevated in amniotic fluid and were reduced in cultivated amniotic fluid cells, and (2) cytoplasmic inclusions were seen in cultivated amniotic cells by phase contrast microscopy. The accuracy of prediction was confirmed by cultured skin fibroblast of the aborted fetus.
Pregnancy from a family at risk for fucosidosis was monitored. The fetus was diagnosed as having a carrier state of the disease. alpha-L-fucosidase activity, however, was found to be absent in white blood cells obtained from identical twins after delivery. The diagnostic evaluation of (1) the enzyme activity in amniotic fluid and in cultivated amniotic fluid cells and (2) the presence of fucose rich compound in amniotic fluid are discussed.