Schizencephaly in triple-X syndrome.
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Biomedical subjects
Publications and source records attributed to I Eda.
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Thyroid masses are a common clinical finding, and their management remains controversial. The purpose of this study was to evaluate the clinical effect of performing routine ultrasound (US) examinations and US-guided fine-needle aspiration biopsy (US-FNAB) in the management of diffuse or nodular goiter diagnosed by mass screening. Mass screening carried out from 1993 to 1996 revealed 444 women with goiter, 322 of whom had diffuse goiter and 122 had nodular goiter. All of these patients underwent US examination, the results of which determined that 169 should undergo US-FNAB to confirm an accurate diagnosis of their thyroid tumors. Histological examinations after surgical resection revealed that 12 of the 322 patients with diffuse goiter (3.7%) and 23 of the 122 with nodular goiter (18.9%) had malignant tumors. Among the 61 thyroid tumors surgically verified, US-FNAB yielded a sensitivity rate of 93%, a specificity rate of 81%, and an accuracy rate of 90%. Insufficient aspiration was obtained from 5%. Performing US-FNAB-resulted in an elevation in the percentage of malignant tumors yielded at surgery of up to 72%. Thus, ultrasonography followed by US-guided-FNAB could be a useful routine method of evaluating thyroid tumors detected by mass screening. Moreover, a greater number of unnecessary thyroid operations can be avoided by performing US-FNAB rather than FNAB alone.
An 18-year-old male is presented with unprecedented central nervous system findings (cerebral dysplasia and sacral meningocele) possibly in the spectrum of the oculo-encephalo-hepato-renal syndrome. He had severe mental retardation, triplegia, epilepsy, retinitis pigmentosa, and chronic renal failure. Magnetic resonance imaging demonstrated cerebral dysplasia (left dominant abnormal gyri, hypoplastic white matter, basal ganglia, and thalamus, and absence of the septum pellucidum) and the hypoplastic cerebellum and brainstem. A sacral meningocele was observed first at 16 years of age. His renal function gradually worsened after 11 years of age. His liver function was normal. The previously reported 72 cases with the oculo-encephalo-hepato-renal syndrome are reviewed.
Transcranial magnetic stimulation (TMS) has been used to describe cortical plasticity after unilateral cerebral lesions. The objective of this study was to find out whether cortical plasticity occurs after bilateral cerebral lesions. We investigated central motor reorganization for the arm and leg muscles in cerebral palsy (CP) patients with bilateral cerebral lesions using TMS. Seventeen patients (12 with spastic diplegia, 1 with spastic hemiplegia, and 4 with athetoid CP) and 10 normal subjects, were studied. On CT/MRI, bilateral periventricular leukomalacia was observed in all spastic patients with preterm birth. In two normal subjects, motor responses were induced in the ipsilateral tibialis anterior, but no responses were induced in any normal subject in the ipsilateral abductor pollicis brevis (APB) or biceps brachii (BB). Ipsilateral responses were more common among CP patients, especially in TMS of the less damaged hemisphere in patients with marked asymmetries in brain damage: in 3 abductor pollicis brevis, in 6 BBs, and in 15 tibialis anteriors. The cortical mapping of the sites of highest excitability demonstrated that the abductor pollicis brevis and BB sites in CP patients were nearly identical to those of the normal subjects. In patients with spastic CP born prematurely, a significant lateral shift was found for the excitability sites for the tibialis anterior. No similar lateral shift was observed in the other CP patients. These findings suggest that ipsilateral motor pathways are reinforced in both spastic and athetoid CP patients, and that a lateral shift of the motor cortical area for the leg muscle may occur in spastic CP patients with preterm birth.
We evaluated the brainstem function or its excitability by the blink reflex evoked with the electrical stimulation to the supraorbital nerve in 10 patients with athetotic cerebral palsy compared with 10 normal subjects and 7 spastic type patients. There were no differences in stimulus intensity, latency of R1 and R2 components, and duration and area of EMG activity of the R2 component of the blink reflex elicited by single stimulation among the two patients' groups and normal subjects. R1 recovery cycle to paired stimuli in the athetotic group showed a facilitation of the test responses by the conditioning stimuli at 100 and 200 ms intervals, but were not significantly different from those in the normals. On the other hand, the R2 recovery curve in the athetotic group showed a significant hyperexcitability at all intervals from 100 to 600 ms compared to the normals. Our results from the R2 hyperexcitable recovery to paired stimuli are indicative of increased brainstem interneuronal excitability in athetotic patients and similar to the results reported in the disorders of the basal ganglia, i.e. Parkinson's disease, dystonia and blepharospasm. We suggest that this hyperexcitability might be caused by abnormal input possibly from the basal ganglia upon these brainstem interneurons.
The inhibitory effect of FR-118487, a potent angiogenesis inhibitor, on neovascularization induced by the VX2 tumor was confirmed in a rabbit corneal assay. The antimetastatic effect of FR-118487 was also investigated in 21 rabbits. Spontaneous liver metastases were induced by VX2 tumor cell implantation into the ascending colonic wall. FR-118487 was then infused continuously into the portal vein for 7 days after resection of the primary lesion at a dose of 1 mg/kg/day (FR-1 group) or 3 mg/kg/day (FR-3 group). The incidence of liver metastases was 71.4%, occurring in 5 of 7 rabbits, in each of the FR-1 and FR-3 groups, compared with 100%, being all of 7 rabbits, in the control group. The number of metastatic foci tended to be less in the FR-1 (31.0 +/- 36.0) and FR-3 (24.6 +/- 45.1) groups than in the control group (83.7 +/- 73.9) and the weight of metastatic foci was significantly less in the FR-1 (1.4 +/- 1.8 g) and FR-3 (1.3 +/- 2.0 g) groups than in the control group (6.5 +/- 4.9 g) (P < 0.05). However, leakage of the colonic anastomosis and body weight loss were limited to the FR-3 group. These results suggest that the continuous intraportal infusion of FR-118487 at 1 mg/kg/day suppressed liver metastases by inhibiting angiogenesis, without producing any adverse effects.
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We investigated the blink reflex in 27 severely handicapped patients. 15 males and 12 females, from 5 to 60 years old. They were divided into three groups; the tube-feeding group (9 patients), the oral-feeding group (9 patients), and the mixed-feeding group (9 patients). Seven normal subjects also were included in this study. There was a significant difference in the late ipsilateral component (R2) between the tube-feeding and oral-feeding groups. The average R 2 time were 43.0 msec. in the tube-feeding group and 36.7 msec. in the oral feeding group. The auditory brainstem response (ABR) showed no significant difference between the two groups. These results suggested that the swallowing function in the patients needed for tube feeding was affected by not only the cortical lesions but also the brainstem ones. Furthermore, it is speculated that the degree of brainstem dysfunction in the tube-feeding group was more severe than in the non-tube-feeding group. The blink reflex is one of the useful electrophysiological parameters for evaluating the brainstem function in severely handicapped patients with dysphagia.
A rabbit VX2 colon cancer model with spontaneous liver metastases was used to evaluate the antitumor effect of an angiogenesis inhibitor, FR-118487. FR-118487 (1 mg/kg/day) was infused continuously into the portal vein for a week after resection of primary colon cancer lesions (FR group). The incidence of liver metastases was 71.4% (5/7) in FR group, and 100% (7/7) in control group. The number and the weight of liver metastatic nodules were 31.0 +/0 36.0 and 1.4 +/- 1.8 g in FR group versus 83.7 +/- 73.9 and 6.5 +/- 4.9 g in control group, respectively. The metastases in FR group were significantly decreased in weight compared with those in control group (p < 0.05). No anastomotic leakage was recognized in either group. No side effects of FR-118487 such as body weight loss were found. Continuous intraportal infusion of FR-118487 in the early postoperative period may be effective to suppress liver metastases from colon cancer by inhibiting the angiogenesis concerning liver metastases.
A 16-year-old girl developed dyspnea 9 years after surgery for patent ductus arteriosus with pulmonary hypertension (pulmonary to systemic peak systolic pressure ratio; Pp/Ps 1.0). The postoperative course had been uneventful with a decreased Pp/Ps. It was revealed this time, however, that the pulmonary arterial pressure again elevated to be 186/133 mmHg (Pp/Ps 1.90). Postoperative progression of pulmonary angiopathy was first suspected. Whereas, the findings with pulmonary perfusion scintigraphy and arteriography were remarkably different between the right and left lungs, suggesting that the progression of pulmonary hypertension was not caused by that of pulmonary angiopathy but by the association of thromboembolism in small pulmonary arteries. The patient succumbed to intractable cardiopulmonary failure, strongly appealing for the necessity of organ-transplantation therapy in Japan. This case also indicated the particular importance of a close follow-up of the cases with pulmonary hypertension remaining after corrective surgery.
Three patients with Ehlers-Danlos syndrome were reported. Unusual findings on computed tomography were seen in two of the three patients. One case showed peculiar and marked dilatation of the 4th ventricle, supracerebellar cistern and lateral ventricle. The other case presented disproportionate enlargement of the anterior horn of the lateral ventricle. These CT findings in the two patients suggest that developmental abnormalities may constitute a structural defect.
When compared with an age-matched normal control and a Duchenne muscular dystrophy (DMD) case, the patient with FCMD had an unusual ganglioside pattern in the cerebral gray matter. The total level of lipid-bound sialic acid in the cerebral gray matter was also slightly decreased. However, other lipid compositions of the cerebral gray and white matter were normal compared with those in the control case.
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Unusual computed tomographic findings were observed in four patients with congenital ocular motor apraxia (COMA). These (CT) findings were characteristic in the posterior cranial fossa, with a dilated or deformed shape and size of the fourth ventricle, particularly its upper portion. One case revealed partial agenesis of the cerebellar vermis. It was suggested that the four patients subjected to CT showed abnormal topography of the cerebellar vermis or the brain stem. We postulate that these CT findings in COMA may have an important role in its pathogenesis.
The cranial computed tomography (CT) and outcome for 13 full-term neonates and 12 young infants with intracranial hemorrhage (ICH) were studied. The full-term neonates had perinatal asphyxia or neurological signs such as seizures. All infants were breast-fed and showed bleeding diathesis. In the full-term neonates there was a high incidence of intraventricular hemorrhage (IVH) and hemorrhage around the falx. The location of the hemorrhage on CT and brain pathology suggested that the original site of IVH might be the choroid plexus vessels in the lateral ventricle or in the subependymal layer. On the other hand, the sites of ICH in infants were multifocal compared with those in full-term neonates. Subdural hemorrhage (SDH) was seen more frequently and IVH less frequently in infants than in full-term neonates. The cases with SDH frequently showed accompanying cerebral infarction followed by porencephaly. Thus, SDH with cerebral low density on CT may predict a poor prognosis.
Methylation of erythrocyte membranes was compared in 10 patients with myotonic dystrophy (MyD) and sex- and age-matched healthy controls. The incorporation of 3H-methyl groups into phosphatidylcholine (PC) increased with age in the controls. In all 5 patients with early-onset MyD, 3H-methyl incorporation into PC was significantly higher than in sex- and age-matched controls. In contrast, 5 patients with adult form MyD showed incorporation rates into PC that were not significantly different from the controls. Our findings may confirm the presence of differences in the methylation of cellular membranes in MyD patients with the adult- and early-onset forms of the disease.
The genetic defect in myotonic muscular dystrophy (MMD) remains obscure. From the evidence that drugs blocking cholesterol biosynthesis induce myotonia and increased serum concentrations of deoxycholic acids are common among patients with MMD, evidence of the abnormal sterol metabolism in MMD fibroblasts was sought by comparing them with fibroblasts from control individuals and patients with Duchenne muscular dystrophy (DMD). Although early-onset type MMD and DMD fibroblasts have lower maximal cell densities than fibroblasts from age-matched control individuals do in medium containing 10% fetal bovine serum, we could not reveal any abnormalities in exogeneous cholesterol requirements for proliferation of MMD fibroblasts. This suggests that the sterol biosynthetic pathway in MMD fibroblasts is grossly intact. Furthermore, no difference were observed in sensitivities to polyene antibiotics, which bind to membrane sterols and presumably damage the cell membrane.
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