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Biomedical subjects

M Uchino

Publications and source records attributed to M Uchino.

At least 127 records · Page 7Linked to original sources
PubMed1996

A new simple and rapid screening method for variant transthyretin-related amyloidosis.

To screen for transthyretin (TTR) related amyloidosis rapidly and reliably, we have developed a new method using a centrifugal concentrator device and electrospray ionization mass spectrometry (ESI-MS). Only 50 microliters of serum is needed for the analysis. After preparation of the samples with anti-TTR antibody they were passed through a 1000 kDa cut off centrifugal concentrator which retained the antibody. By analyzing the obtained filtrate with ESI-MS, variant forms of TTR was detected. TTR (Met30), with a molecular weight 32.0 Da higher than the normal form of TTR, was found in all FAP patients examined. In 3 liver transplanted FAP patients, the abnormal peaks had disappeared. In conclusion, The TTR Met30 mutation was easily detected in serum samples by electrospray ionization mass spectrometry after centrifugal concentration. The proposed method is simple to perform, as no HPLC is required, and offers a possibility to screen populations for TTR related amyloidosis.

Adult↗
PubMed1996

Autonomic dysfunction and anemia in neurologic disorders.

The effect of autonomic dysfunctions on anemia in various neurological disorders, such as familial amyloidotic polyneuropathy (FAP) Type I, pandysautonomia, and Shy-Drager syndrome was examined. As a control, hemograms of patients with amyotrophic lateral sclerosis (ALS), which is known to be free from autonomic dysfunction, was compared with patients with the above neurological disorders. FAP and pandysautonomia patients showed significant anemia comparable with the severity of the autonomic dysfunctions. Shy-Drager patients exhibited mild anemia. However, in ALS patients, no such anemia was recognized at all even in the end stage of this disease. In pandysautonomia patients, hypoplastic bone marrow was recognized, which was quite consistent with the data previously reported in FAP patients. Human recombinant erythropoietin improved orthostatic hypotension as well as anemia in 4 FAP patients. These results suggest that autonomic dysfunction may be deeply connected with erythropoiesis.

Adult↗
PubMed1996

Decreased affinity of apolipoprotein AII to high-density lipoprotein in patients with transthyretin-related amyloidosis (Met30, Gln89, Pro36, and Thr34).

We previously reported that patients with familial amyloidotic polyneuropathy (FAP) (Met30) showed low plasma apolipoprotein AII (apoAII) levels and apolipoprotein AII/AI (apoAII/AI) ratio as the progression of the disease while plasma levels of apoAI, B, CII, CIII, and E were all within normal ranges. In the present study, we investigated these apolipoproteins contained in high density lipoprotein (HDL) extracted from plasma of FAP (Met30), and the levels of apoAII gene expression in the liver from patients with FAP (Met30). Plasma apoAII levels and the apoAII/AI ratio in extracted HDL in all the FAP types examined decreased compared with those in normal control subjects. Levels of apoAII mRNA expression in the liver of FAP (Met30) patients did not show significant changes compared with those in control subjects. These results suggest that decreased affinity of apoAII to HDL could not be compensated by overproduction of apoAII in the liver of the FAP patients and as a result of this phenomenon, plasma apoAII levels might decrease as the progression of FAP.

Amino Acid Sequence↗
PubMed1996

Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation.

We investigated a family with optic atrophy which occurred in childhood or early adulthood plus late-onset cerebellar ataxia. The magnetic resonance imaging in the proband revealed cerebellar atrophy. The proband and her brother were homoplasmic for the most common mitochondrial DNA (mtDNA) 11778 mutation associated with Leber's hereditary optic neuropathy (LHON). This study showed further evidence that central nervous system lesions can occur in cases of LHON mtDNA mutation.

Adult↗
PubMed1996

Developmental and denervation changes in c-ret proto-oncogene expression in chick motoneurons.

Receptor tyrosine kinases (RTKs) play important roles in cellular differentiation, survival, and proliferation. To search for genes involved in the survival of motoneurons, we isolated the RTKs specifically expressed on them. We used RT-PCR, by which RNA was obtained from purified embryonic day 5 (E5) chick motoneurons, and screened by in situ hybridization. Of 17 RTK cDNA clones, c-ret expression gradually increased in the motoneurons of the spinal cord during development. Compared with the expression of the neurotrophin receptor, TrkC, that of c-ret was very high in motoneurons from around E17 to adulthood. The level of c-ret expression on the motoneurons was unaffected by deafferentation at E2, but changed after denervation at post-hatching day 2. The in situ hybridization signal for c-ret mRNA increased slightly at day 1, then decreased progressively up to day 8, and increased again 2 weeks after sciatic nerve denervation in the motoneurons of the lumbar spinal cord. There were also changes in the signal of the lesioned sciatic nerve. In the most distal part from the lesioned site, the signal for c-ret mRNA significantly increased from day 3 on after denervation. These results suggested that the c-ret gene may encode the receptor for a factor involved in motoneuron differentiation and the promotion of regeneration of injured peripheral nerves.

Amino Acid Sequence↗
PubMed1996

Benign adult familial myoclonus epilepsy (BAFME): an autosomal dominant form not linked to the dentatorubral pallidoluysian atrophy (DRPLA) gene.

The genetic differences between two types of dominant inherited myoclonus epilepsy, dentatorubral pallidoluysian atrophy (DRPLA) and benign adult familial myoclonus epilepsy (BAFME), have been reported. A gene with a CAG repeat expansion responsible for DRPLA has been isolated. We have examined CAG repeat expansion in the DRPLA gene in five BAFME families, and the abnormal CAG expansion was not observed in the affected subjects. Linkage analysis using DNA polymorphisms in the DRPLA gene and the genes for gamma-aminobutyric acid (GABA) receptor subunits, GABAR beta 1, GABAR beta 3, and GABAR alpha 6, showed that these genes were not responsible for BAFME.

Atrophy↗
PubMed1996

Facioscapulohumeral muscular dystrophy with chromosome 9p deletion.

We report a 31-year-old man with facioscapulohumeral muscular dystrophy who had congenital anomalies and mental retardation. Southern blot analysis, using the probe p13E-11, displayed an abnormal EcoRI DNA fragment that reflect DNA rearrangements in facioscapulohumeral muscular dystrophy. In addition, high-resolution cytogenetic study revealed an interstitial deletion of the short arm chromosome 9: 46,XY,del(9)(p.22.1p24.1).

Adult↗
PubMed1996

Oculopharyngeal muscular dystrophy in two unrelated Japanese families.

The occurrence of oculopharyngeal muscular dystrophy (OPMD) in Orientals is uncertain. We identified two unrelated Japanese families, including 30 affected individuals (14 men, 16 women, mean age 58 years) of OPMD through four generations, with complete penetrance. Their major clinical manifestations were late-onset bilateral ptosis and dysphagia. Histologic studies of slightly affected muscles reveal mild myogenic changes, occasional rimmed vacuoles, and small angulated fibers. By contrast, the severely involved cricopharyngeal muscle showed marked loss of fibers and massive proliferation of connective tissue. Ultrastructural studies of four different biopsied muscles disclosed subsarcolemmal intranuclear tubulofilamentous inclusions, identical to those of non-Japanese OPMD patients.

Aged↗
PubMed1996

Distribution of dystrophin and dystrophin-associated protein 43DAG (beta-dystroglycan) in the central nervous system of normal controls and patients with Duchenne muscular dystrophy.

In skeletal muscles of patients with Duchenne muscular dystrophy (DMD), the absence of dystrophin was thought to lead to the large reduction in all of the dystrophin-associated proteins (DAPs). Of the seven types of DAPs identified in skeletal muscle, only the 43-kDa glycoprotein (beta-dystroglycan) has recently been found in the monkey brain. To clarify the distribution and characterization of dystrophin and beta-dystroglycan in the brain of humans, we carried out immunostaining and immunoblotting studies on tissues from three DMD patients with intellectual disturbances (ages 17,22, and 26 years) and in five controls (age range, 42-74 years). An antidystrophin antibody revealed dystrophin to be localized in neuronal cells and in the vascular wall in control brains, but it was absent from these tissues in DMD patients. In contrast, beta-dystroglycan was distributed throughout neuronal cells and in the vascular wall of control brains, and was well preserved in the brain of patients with DMD.

Adolescent↗
PubMed1996

Carotid artery disease in patients with retinal artery occlusion.

Embolization from the carotid bifurcation has been proposed as the most common cause of central retinal artery occlusion (CRAO) and branch retinal artery occlusion (BRAO). The purpose of this study was to evaluate carotid artery disease in patients with CRAO and BRAO. Using carotid ultrasonography, 17 patients (13 males, 4 females, mean age 68.7 +/- 7.1 years) with CRAO and BRAO were examined for stenotic findings and plaque morphology (homogeneous or heterogeneous) within 7 days after onset. The internal carotid artery (ICA) ipsilateral to the affected side showed a significantly higher incidence of severe carotid stenosis as compared to the non-affected side. The occurrence of heterogeneous plaques in the ICA did not differ between the affected and the non-important affected side. We suspect that severe carotid stenosis in addition to heterogeneous plaques plays an important role in retinal artery occlusion.

Aged↗
PubMed1996

Uterine leiomyosarcoma metastasis to the skull--case report.

A 54-year-old female presented with a rare uterine leiomyosarcoma metastasis to the skull appearing as a gross mass beneath her scalp. She had no neurological or other physical symptoms on admission. Computed tomography and magnetic resonance imaging demonstrated an enhanced dumbbell-shaped mass at the mid-frontal region beneath the scalp. The tumor was totally removed with normal surrounding bone and dura. The histological diagnosis was leiomyosarcoma. Her postoperative course was uneventful, and she received adjuvant chemotherapy. However, multiple distant bone metastases developed 1 year later. Immediate and radical resection of such tumors is recommended.

Fatal Outcome↗
PubMed1996

[Dysphagia following lateral medullary infarction].

We studied 10 patients with lateral medullary infarction. Six patients had severe dysphagia from the onset, and needed tube feeding or intravenous hyperalimentation. Three of these 6 patients resolved dysphagia within 3.5 months. Pharyngoesophagography showed aspiration and pooling in the pharynx in other three patients who showed persisting dysphagia for more than 6 months. The cause of dysphagia was not unilateral paralysis of the pharynx and the larynx. Because there were decreased functions of elevation of the larynx, closure of the vocal cord and the pharyngeal movement, the dysphagia of our patients may be due to disturbance of the neurogenic swallowing control. Persistent dysphagia was associated with anterolateral extension of the infarction in the medulla. Two patients with laryngectomy and permanent tracheostomy were able to be discharged to home. We conclude that surgical treatment is a choice in patients with dysphagia which persists for more than 6 months.

Aged↗
PubMed1996

[A case of left atrial myxoma with repeated ischemia of left anterior cerebral artery territory].

A 52-year-old woman was admitted to our hospital because of paralysis of her right lower limb and dysarthria. After admission, she had exacerbations of paralysis of the right lower limb twice. Brain CT scan revealed a low density area in the left anterior cerebral artery territory. MRI disclosed the lesion of the body of the corpus callosum. On the fifth day, trans-esophageal echocardiography detected a mass lesion in the left atrium. There was no recurrence after treatment with heparin. On the 23rd day, the left atrial mass was removed surgically, which was elastic and soft and was confirmed to be myxoma pathologically. It was suggested that the embolic material originated from an adherent thrombus on the surface of the myxoma, since heparin was effective. She showed unique movements of her right hand like diagonistic dyspraxia. The right hand with mild paresis took away an object held in the left hand. The patient was able to move the right hand voluntarily and to imitate with it. She did not show grasping reflex, instinctive grasp reaction and apraxia of the left hand. The lesion of the body of corpus callosum may be responsible for this peculiar neurological symptom.

Brain Ischemia↗
PubMed1996

Diagnosis of middle cerebral artery occlusion with transcranial color-coded real-time sonography.

PURPOSE: To determine the usefulness of transcranial color-coded real-time sonography in detecting occlusion of the horizontal portion of the middle cerebral artery. METHODS: Using transcranial color-coded real-time sonography, we measured the end-diastolic flow velocity with incident angle correction and the side-to-side ratio of the end-diastolic flow velocity (the end-diastolic ratio) in both middle cerebral arteries in 44 patients with or without occlusive disease. Cerebral angiography was carried out in all patients before or within 1 week after sonography. The subjects included 4 patients with unilateral stenosis of the extracranial internal carotid artery > or = 75%; ICS group), 6 with unilateral occlusion of the extracranial internal carotid (ICO group), 6 with occlusion of the horizontal portion of the middle cerebral artery (M1 group), and 28 without stenotic (< 75%) lesions in the internal carotid artery (control group). RESULTS: In the control group, the end-diastolic flow velocity was 40.4 +/- 16.8 cm/s (mean +/- SD) and the end-diastolic ratio was 1.28 +/- 0.27. In the ICS and ICO groups, the end-diastolic flow velocities on the affected side and the end-diastolic ratios were 33.4 +/- 9.0 cm/s and 1.35 +/- 0.24, and 29.6 +/- 10.2 cm/s and 1.67 +/- 0.58, respectively. In the M1 group, the end-diastolic flow velocity (16.7 +/- 4.29 cm/s) on the occluded side was significantly lower than that in the other groups. The end-diastolic ratio (3.53 +/- 1.47) in the M1 group was significantly higher than that in the other groups. CONCLUSION: The M1 group could be easily distinguished from the other groups on the basis of the end-diastolic ratio. Measurement of the end-diastolic flow velocity and the end-diastolic ratios in the middle cerebral artery by means of transcranial color-coded real-time sonography may help to identify an occlusion in the horizontal portion of the middle cerebral artery.

Arterial Occlusive Diseases↗