Dinucleotide repeat polymorphism in D20S17 (CRI-L127).
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Biomedical subjects
Publications and source records attributed to M Seino.
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1. The seizure manifestations of patients with hemiplegia were reminiscent of partial seizures. The motor manifestations were notably asymmetrical and impairment of consciousness was mild. Nevertheless, tonic seizures, identified by electroclinical correlation were found in 49 patients (88%) although they were predominantly unilateral or asymmetrical. 2. Unclassified seizures characterized by ictal automatisms, which mimic complex partial seizures was observed in 5 patients (9%). 3. Late epileptic seizures of the HHE syndrome were regarded as psychomotor seizures by Gastaut et al. In the present study, however, complex partial seizures were found in only 3 at 28 patients with HHE syndrome (11%) whereas tonic seizures in 23 of these patients (82%). One possible reason for this discrepancy is bias in the selected patient population, because those with transient hemiplegia were not included, and infrequently occurring partial seizures might have been missed. Further study is therefore needed to determine whether the HHE syndrome is associated with complex partial seizures or predominantly unilateral tonic seizures.
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We reported 3 cases with subacute sclerosing panencephalitis (SSPE) showing recurrent and involuntary motor phenomena. Their electroclinical correlates were analyzed using CCTV-EEG. Clinically, they slanted their trunks and/or heads, and dropped their upper limbs momentarily only when their antigravity muscles were suitably contracting (sitting, standing, or stretching out their arms). Electrographically, the motor phenomena corresponded with the occurrence of periodic synchronous discharges (PSD) (in one-to-one manner). EMG potentials associated with the muscle contraction subsided at the very moment. These motor phenomena observed in patients with SSPE were discussed in relation to asterexis.
We examined the role of bradykinin in the onset and/or the maintenance of blood pressure and renal blood flow in deoxycorticosterone acetate (DOCA)-salt hypertensive rats by using a competitive antagonist of bradykinin [Arg-Pro-Hyp-Gly-Thi-Ser-Dphe-Thi-Arg; Hyp, L-4-hydroxyproline; Thi, beta-(2-theinyl-L-alanine)]. The intravenous injection of the bradykinin antagonist (25, 50 and 100 micrograms) produced an increase in mean arterial pressure in all rats treated with tap water, 1% NaCl and DOCA + 1% NaCl. However, the magnitude of the increase in mean arterial pressure was significantly lower in the DOCA-hypertensive rats than in the two groups of rats drinking tap water and 1% NaCl after 4 and 6 weeks, but there was no significant difference after 2 weeks. The bradykinin antagonist induced a decrease in renal blood flow in all rats. However, the extent of the fall in renal blood flow was reduced in the DOCA-hypertensive rats compared with the control rats drinking tap water. These results suggest that endogenous bradykinin is depressed in the established phase of hypertension in DOCA-hypertensive rats. It is also suggested that endogenous bradykinin may counteract the elevation of vascular resistance in the early stages of this model.
To properly establish the surgical treatment of epilepsy in the comprehensive care program, we planned a surgical strategy mainly for a temporal lobe epilepsy and have performed 60 temporal lobectomies. The surgical candidates were selected from 142 patients who met the initial criteria, and passed the initial evaluation for surgical intervention. Forty-five patients had long-term intracranial EEG recording, and circumscribed organic lesions were disclosed in 27 patients by neuroimaging techniques. The outcome of 23 patients who were followed for 2 years postoperatively was complete freedom from complex partial seizures in 17 patients (74%) and an increase in full employment from 2 to 10 patients. Despite the possible surgical complications, including detrimental effects on the higher cerebral functions, it is essential that the surgical treatment of epilepsy should be established as a part of the comprehensive care program. Our experiences and analyses of the state of the art in surgical intervention also suggest that surgical indications for more intractable patients whose social adjustment is less hopeful should be established and the surgical care system for these patients should also be planned. Furthermore, some patients may be free from recurrent seizures postoperatively, but still have difficulties in social rehabilitation. The problems for such patients remain unsolved.
We studied 40 patients with temporal lobe epilepsies who had long-term intracranial EEG recordings and temporal lobectomies. They were divided into 3 groups on the basis of the anatomical site of seizure origin. An electrode implantation technique combined intracerebral depth electrodes with subdural strip electrodes. The seizures were of amygdalo-hippocampal origin in 18 patients, lateral temporal in 13 patients, and temporo-basal in 9 patients. The clinical and EEG features were reviewed retrospectively with regard to 3 factors in each patient: localization of interictal spikes in the scalp-recorded EEG, signal symptoms (auras), and presumed etiologies. Epilepsy with amygdalo-hippocampal and lateral temporal seizures was found to be distinguishable by the electroclinical features. It seems practical to classify these 2 subtypes of temporal lobe epilepsies as in the 1989 Classification of Epilepsies and Epileptic Syndromes. Temporal lobe epilepsies thus defined can be regarded as epileptic syndromes rather than a cluster of seizure manifestations.
The human insulin-receptor (hINSR) gene spans a region of greater than 120,000 base pairs (bp) on the short arm of chromosome 19. It is comprised of 22 exons or coding regions that vary in size from 36 to greater than 2500 bp. To a large degree, the introns appear to divide the hINSR gene into segments that encode structural and/or functional elements of the hINSR protein. The exon-intron organization of the hINSR gene provides a clue to the evolutionary history of this gene and suggests that it is a mosaic constructed from protein-coding regions recruited from other genes. Eight mutations in the hINSR gene that result in expression of structurally abnormal proteins have been described. These mutations are associated with insulin resistance and provide insight into the role of the hINSR gene in the development of diabetes mellitus.
The partial sequence of the human insulin-receptor (hINSR) gene is presented. Using the gene sequence as a guide, we selected pairs of oligonucleotide primers from sites in the introns that flank each exon. These primers allowed each of the 22 exons of the hINSR gene to be amplified in vitro by the polymerase chain reaction. The sequences of the gene and oligonucleotide primers will facilitate studies of genetic variation in the hINSR gene and thereby increase our understanding of the role of this gene in the development of insulin-resistant states and glucose intolerance.
Failure to visualize either adrenal gland by adrenal imaging was experienced in a patient with biochemical evidence of primary aldosteronism. Visualization of the adrenal glands was not possible after the administration of ACTH-Z (1 mg/day) for 3 days. The administration of ACTH and dexamethasone elicited an increase in blood pressure. Although the reason for this failure to visualize the adrenal glands by scanning and for the rise in blood pressure brought on by ACTH and dexamethasone remain unclear, we think that the case herein reported is a rare type of primary aldosteronism.
We examined an interaction of endothelium-derived vasoconstrictor endothelin and Ca++ entry blockers on renal blood flow in anesthetized rabbits. A bolus intrarenal arterial injection of endothelin at doses of 10, 25 and 50 ng produced a decrease in renal blood flow with a dose-dependent fashion, while there was no change in systemic arterial pressure. A similar extent of the decrease in renal blood flow was produced at doses of endothelin 50 ng(2.0 x 10(-11)M), angiotensin II 10 ng (9.7 x 10(-12)M) and norepinephrine 250 ng (1.5 x 10(-9)M), although the decrease in renal blood flow by endothelin was sustained in contrast to angiotensin II or norepinephrine. Pretreatment with Ca++ entry blocker nifedipine (1.0 microgram/kg/min) or diltiazem (20 micrograms/kg/min) attenuated the decrease in renal blood flow and reduced the duration time. These results suggest that exogenous endothelin produces a renal vasoconstriction in vivo. However, it seems that endothelin is less potent than angiotensin II in renal circulation in anesthetized rabbits. It is also indicated that the decrease in renal blood flow by endothelin could be mediated through a common Ca++ channel pathway in renal vasculatures.
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