Retinoblastoma and ABO blood groups.
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Biomedical subjects
Publications and source records attributed to K Minoda.
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In our study, we found a recognizable pattern of the midface in three retinoblastoma patients with interstitial deletion of chromosome 13 in lymphocytes. Further photographs of patients reported by other authors confirmed our conclusion that the midface in children with interstitial deletion of 13q from q12 to q22, always involving q14, is characterized by prominent eyebrows, broad nasal bridge, bulbous tip of the nose, a large mouth with a thin upper lip, and a long philtrum. This midface pattern could not be recognized in patients with normal karyotypes, suggesting that the critical segment for the midface phenotype as well as for retinoblastoma may exist in band 13q14.
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During locomotion of decerebrate and awake walking cats, perturbation (mechanical tap) was applied to the paw dorsum of the left forelimb (LF), and the responses of both forelimbs were recorded cinematographically and electromyographically (EMG). When the tap was applied during the LF stance phase, the duration of the ongoing LF stance was shortened by 10%; in the right forelimb (RF), the duration of the concomitant swing was shortened by 32%. A tap during the LF swing phase prolonged the duration of the ongoing LF swing phase and the concomitant RF stance phase by 55 and 15%, respectively. Analysis of RF joint angle excursions showed that the shortening of the RF swing phase was related mainly to acceleration of extension movement in the late swing phase; the prolongation of the RF stance phase was related to prolonged extension movement in the late stance phase. While EMG activities were relevant to these limb movements, a notable observation was that, by tapping the LF during the LF stance phase, EMG activity in the RF extensor started well before onset of the elbow extension movement to place down the limb; without the tap, the extensor activity started shortly after onset of the extension. Closely related to changes in phase durations of each forelimb, the period of bisupport phase where both forelimbs were in stance, was retained for more than 40% of that of unperturbed steps, even when the RF or LF made the first touchdown after the tap. The rostrocaudal level at RF touchdown after the tap was comparable to unperturbed steps. These findings on interlimb relation suggest that neural control ensures coordinated movements between symmetric limbs during locomotion.
In serial cytogenetic examinations of peripheral lymphocytes from retinoblastoma patients, we found a patient with sporadic bilateral retinoblastoma with a de novo mutation of a 13/18 translocation, with their respective breakpoints at 13q141 and 18q122. The simultaneous de novo occurrence of retinoblastoma and the chromosomal rearrangement involving 13q14 in the proband suggests that the gene locus for retinoblastoma is at 13q141, particularly at the distal portion of it. Deletion mapping data are compatible with this suggestion.
27 surgical specimens of retinoblastoma were transplanted into the anterior chamber of athymic nude mice (BALB/cA nu/nu), and 8 of them proliferated progressively filling the eyes. Among 7 specimens originally showing the rosette type, 1 case exhibited a typical Flexner-Wintersteiner rosette but the other 6 showed only an incomplete rosette after transplantation. One specimen originally showing the undifferentiated type exhibited the same cell type after transplantation. After the 2nd and 7th passage in the nude mouse, a chromosome analysis of the tumor cells confirmed that the cells were from the original human retinoblastoma. After the 7th passage the effects of radiation on the ultrastructure of the transplanted retinoblastoma cells were studies. The Linac beta-ray was radiated at single doses from 300 to 1500 rad, and the eyes were fixed on the 11th day and examined by light and electron microscopy. With 300 and 450 rad, no apparent change was found, but over 600 rad, degenerating cells being polygonal in shape and stained heavily with toluidine blue, were seen; they increased in number by increasing the dose of radiation. These degenerating cells contained vacuoles, dilated endoplasmic reticulum, myelinated figures, laminated and dense particles and empty mitochondria. They also showed partial disappearance of the cell membrane and karyorrhexis. By increasing the dose of radiation, the mitotic figures decreased, but even with 1500 rad, a few mitotic figures were still encountered.
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In walking cats decerebrated at the premammillary level, single neurone activity of Purkinje cells (P-cells) with long corticofugal axons was recorded in the cerebellar vermis. The P-cells (N = 145) were identified as they showed spontaneous simple and complex spikes and also antidromic activation from Deiters' nucleus. These P-cells were classified into 6 groups according to the receptive fields of the climbing fibre responses (CFRs) which were evoked by electrical stimulation in each limb at the radial and sciatic nerve bundles. One group designated as forelimb units received the CFRs from both forelimbs and from neither hindlimb. According to previous studies, this group of P-cells is thought to make inhibitory connections with Deiters neurones projecting to the ipsilateral cervicothoracic spinal cord. For the forelimb units, two types of discharge patterns for simple spikes were found in relation to limb movements during locomotion. Type I cells showed one peak in their firing rate in the late swing (E1) or early stance (E2) phase of the ipsilateral forelimb. Type II cells showed two peaks and two valleys during one step cycle: one peak was in the E1 phase, the other in the late stance (E3) or early swing (F) phase; each of the two valleys followed the peak. Complex spikes of the forelimb units occurred more frequently in the E1 phase than during the other phases. The increased activity of simple and complex spikes of the forelimb units in the E2 phase is suggested to have a functional significance in preparing the appropriate floor reaction forces that appear upon touchdown on the ipsilateral forelimb.
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A microsurgical technique of trabeculoiridocyclectomy for malignant tumors of the iris extending to the angle and ciliary body has been reported. With this technique, the lamellar dissection of the sclera anteriorly into the corneal stroma across the limbus permits excision of the trabecula which is involved with the tumor. In addition, the en bloc excision of the lesion avoids the necessity for a corneo-scleral graft because the outer lamellae are preserved. The ultimate value of this procedure must await long-term follow-up in operated cases.
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