Mental retardation and elevated serotonin levels in adults.
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Biomedical subjects
Publications and source records attributed to K Oikawa.
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A case is presented in which a 4p+/17q- familial balanced reciprocal translocation in the mother produced a son with primary trisomy-21, as well as the structural chromosomal anomaly. A number of similar situations have been reported, suggesting that the two events are related. In practice, this (as well as other direct risks) should be taken into account when counseling those families in which one parent carries a balanced translocation. A hypothesis, based on experiments in Drosophila, has been put forward by Grell to explain the mechanism which links the balanced structural abnormality to an aneuploidy of chromosomes not taking part in the structural change, and this has been extended to similar human situations.
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1. Circular dichroic (CD) spectra of purified intermediate subviral particles of reovirus were determined in the presence of different monovalent cations. 2. The CD spectra reveal that reo intermediate subviral particles can exist in two conformationally different forms. The two forms are readily distinguished by comparison of their ellipticities in the wavelength regions 210 nm and 220 nm, with a Na+-induced form exhibiting a reduced negative ellipticity relative to a Cs+-induced form. 3. The transition between the Na+- and Cs+-induced forms is reversible by manipulation of the species of monovalent cation present and appears to be temperature independent. 4. Temperature variation studies on dilute suspensions of particles indicate that the Na+-induced form is stable, whereas the Cs+-induced from undergoes a second transition, temperature dependent and irreversible, to become a viral core. 5. A model is presented relating these observations to the known properties of reovirus uncoating and transcriptase activation.
A 47-year-old man had diarrhea in 1965. Four years later, malabsorption syndrome was diagnosed and the patient was found to have mild lymphocytosis. Abdominal lymphoma was suspected, but exploratory laparotomy was normal except for partial villous atrophy of small intestine and slightly enlarged mesenteric lymphnodes which were normal microscopically. In vitro lymphocyte blastformation with phytohemagglutinin was depressed markedly throughout the course and the result predicted the developement of malignancy of the lymphocytic system. Infection of Isospora belli was found thereafter, and sulfamethoxazole was quite effective for diarrhea. In August, 1974, he noticed cervical lymphadenopathy for the first time and it was diagnosed as undifferentiated type of malignant lymphoma. He died in December, 1974. In this case diarrhea was most probably caused by the intestinal infection of Isospora belli without obvious lymphoma. The symptom was swept away by peroral sulfamethoxazole. In this patient coccidiosis was presumably induced and prolonged by suppression of cellular immunity which might have already begun to progress at the onset of diarrhea.
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Fifteen cases of multiple myeloma and 6 cases of macroglobulin emia Waldenstrom were followed up from 1957 to 1974. As for administration of drugs a low continuous dose regimen was mainly employed instead of a high intermittent dose regimen. 50% survival time from the onset of the disease was 18 months for multiple myeloma and 25 months for macroglobulinemia Waldenstrom. 3 cases of multiple myeloma are still living 44 months after the onset of symptoms. Cyclophosphamide and melphalan seem to have contributed much to the prolonged survival of these patients as well as improved supportive care.
Intracellular inclusion bodies in the plasma cells were sought by electron microscopy in 32 cases of multiple myeloma and 3 of Waldenström's macroglobulinemia. In some cases, round shaped intranuclear inclusions and intranuclear fibrillar bundles were observed. In other cases, Russell bodies and crystalline structures were found in the cisternae of rough surfaced endoplasmic reticulum (rER), and dense bodies, myelin-like structures, fibrillar formations, polysome lamellae complexes, crystalline structures, virus-like particles and phagocytosis were observed in the cytoplasm of plasma cells. The detailed ultrastructure of these inclusions was described, and their functional significance, origin and appearance rate were discussed. Finally, the presence of true viral particles in the plasma cells was ruled out.
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