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Biomedical subjects

S Maguchi

Publications and source records attributed to S Maguchi.

At least 19 recordsLinked to original sources
PubMed2000

Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene.

Clinicopathological and molecular genetic findings on a new Japanese family with oculopharyngeal muscular dystrophy are reported. The family has 54 members, ten of whom are affected (seven male and three female), in 3 generations. Three affected males, one affected female and one unaffected female of seven living siblings in the third generation were examined. Bilateral ptosis developed in the 4th and 5th decades in the three male cases, and in the 7th decade in the female, and this was followed by diplopia, nasal voice, dysphagia and muscle weakness. In addition, severe external ophthalmoplegia, dysphonia, and proximal amyotrophy were prominent in this family. Electromyographs revealed myogenic/neurogenic changes, and computed tomography disclosed selective muscle wasting with fatty replacement, predominantly in the lower extremities. Muscle biopsy in the four affected patients showed variation in fiber size, and the presence of small angulated fibers and occasional rimmed vacuoles. Electron microscopic examination revealed an accumulation of filamentous inclusions in muscle fiber nuclei. DNA analysis identified that (GCG)(6) in the PABP2 gene was expanded to (GCG)(11) in the four affected cases examined. All studies were negative in the one unaffected. These results confirm that OPMD is caused by GCG short expansion and provides insights into the genetic mechanisms which may contribute to adult onset myopathy, confined to oculopharyngeal muscles.

Aged↗
PubMed1997

A case of bilateral optic neuropathy and recurrent transverse myelopathy associated with perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA).

A case involving a 52-year-old man having bilateral optic neuropathy and recurrent transverse myelopathy is reported. His clinical features resembled multiple sclerosis, but neuroimaging failed to show evidence of demyelination or inflammation in the brain or the optic nerves. The patient experienced sudden visual loss despite massive steroid therapy. Positive perinuclear anti-neutrophil cytoplasmic antibody (p-ANCA) is suggestive that optic neuropathy and recurrent transverse myelopathy may have been caused by some common inflammatory processes associated with p-ANCA, however, having a different etiology from multiple sclerosis.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed1996

Thyroplasty type I with ceramic shim.

To prevent side effects from a silicone shim in Isshiki thyroplasty type I, we used a ceramic shim in 10 patients with unilateral recurrent laryngeal nerve paralysis. No published reports have described the use of ceramic in this type of surgery. According to the degree of glottic insufficiency, ceramic shims of various heights were inserted into the fenestration made in the thyroid ala. All patients experienced subjective improvement of voice postoperatively. Laryngoscopies in most cases showed that glottic insufficiency improved postoperatively. In the postoperative examination, the maximum phonation time improved an average of 3.7 s, and the mean flow rate improved an average of 331 ml/s. We have analyzed the relationship of these improvements to the degree of glottic insufficiency and have compared our results with those of other investigators.

Adult↗
PubMed1996

The association between human leukocyte antigens (HLA) and cytoplasmic-antineutrophil cytoplasmic antibody (cANCA)-positive Wegener's granulomatosis in a Japanese population.

The present study examined the association between various human leukocyte antigens (HLA) and cytoplasmic-antineutrophil cytoplasmic antibody (cANCA)-positive Wegener's granulomatosis (WG) in Japanese subjects to determine whether HLA antigens are involved in the pathogenesis of this disease. The study involved 16 subjects with cANCA-positive WG treated in our department. HLA-typing of the lymphocytes was performed using a lymphocyte microcytotoxicity assay. Of the subjects with cANCA-positive WG, 62.5% (10/16) were positive for HLA-DR9, as compared to 26% of the healthy control subjects. This HLA-DR9 elevation was statistically significant (p < 0.01, Pc < 0.05); we also noted a weaker association between HLA-B55 and cANCA-positive WG (p < 0.05). The results indicate that an association may exist between certain HLA-class allotypes and WG.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed1995

[Clinical study of subglottic carcinoma].

Recently, therapy for laryngeal carcinoma has been becoming established, particularly in the early stage. The prognosis of laryngeal carcinoma is said to be better than that of other head and neck carcinomas. Laryngeal carcinoma is divided into 3 subtypes, supraglottic, glottic and subglottic, according to origin. We analyzed the subglottic carcinomas diagnosed and treated in our department between 1972 and 1990. During that period we treated 515 cases of laryngeal carcinoma, 204 cases of the supraglottic type, 284 cases of the glottic type, and 27 cases (5.2%) of the subglottic type. The 5-year survival rate in subglottic carcinoma was 44% (T1: 83%, T2:55%, T3: 17%, T4: 0%), worse than in the other types of laryngeal carcinoma. We think that there were 2 main reasons for the worse prognosis. The first was their high rate of local recurrence after radiation therapy particularly in the early stage. Although 15 T1 and T2 patients who received full dose (65Gy) radiotherapy had a complete response, 8 patients developed local recurrence. The results of the salvage operation were good in T1 cases, but were followed by death because of metastasis or second recurrence in 2 of the 3 T2 patients. The second reason for the worse prognosis appeared to be metastasis in the advanced cases. Five (50%) T3 and T4 patients developed metastasis to the lung, mediastinum and cervical lymph nodes, resulting in death. Thus, we believe that the main therapy for subglottic carcinoma, except T1, should be surgery to obtain a better outcome, and that adjuvant chemotherapy after irradiation or neck (paratracheal) dissection with total laryngectomy should be performed in advanced cases.

Adult↗
PubMed1995

[Effect of oak pollen on patients with birch pollinosis].

The author reviewed 53 cases of birch pollinosis treated in our ENT-clinic between 1990 and 1991. Of interest is the fact that many of these patients complained of typical symptoms in and after June, when birch pollen has usually disappeared. We considered this discrepancy to be attributable to the effects of grass pollen, one of the common causal agents in this period. However, only a few patients tested positive for grass pollinosis. We therefore postulated that cross-reactivity between birch and oak pollen accounted for this phenomenon, because both trees belong to same order, Fagales. A strong correlation between RAST scores for birch and oak pollen was detected, and the oak pollen RAST score was significantly reduced by birch pollen extract in an inhibition test. These findings demonstrated actual cross-reactivity between birch and oak pollen. Birch pollinosis patients in Sapporo therefore have allergic symptoms from March to July.

Cross Reactions↗
PubMed1995

[Antineutrophil cytoplasmic antibody (C-ANCA) levels in relation to the treatment of Wegener's granulomatosis].

We assessed the clinical significance of cANCA in relation to the diagnosis and follow-up of Wegener's granulomatosis patients using NephroScholor C-ANC, the ELISA kit for the detection of cANCA. The NephroScholor C-ANC test for cANCA was revealed to be useful for the diagnosis of Wegener's granulomatosis, but slightly less sensitive than the indirect immunofluorescence assay using human neutrophils, which has been in widespread use for the detection of ANCAs. With NephroScholor C-ANC, the cANCA titer can be estimated conveniently and expressed quantitatively. When conventional immunosuppressive therapy with prednisolone and cyclophosphamide was applied, the patients' symptoms subsided as the cANCA titer decreased, and thus it also seemed useful for the follow-up of Wegener's granulomatosis patients. However, a rising ANCA titer during the course of the disease was not always correlated with the occurrence of a relapse as previously reported. Based on these findings, it is not recommended that treatment be changed immediately because of elevation of the ANCA titer alone, and it never seemed too late to increase immunosuppressive therapy, even after a clinical exacerbation was observed. Several treatments other than the conventional immunosuppressive therapy have often been applied for our patients, especially in the limited type of this disease, and these treatments, including sulfamethoxazole-trimethoprim alone, low-dose prednisolone alone, and cyclophosphamide alone, have often been useful. We conclude that the choice of therapy must depend on the severity or the condition of the individual patient, and this therapeutic policy should reduce unnecessary side effects of potentially toxic drugs.

Adult↗
PubMed1994

[An ELISA for the detection of anti-neutrophil cytoplasmic antibodies using the cytoplasmic alpha-fraction--clinical use for the diagnosis of Wegener granulomatosis and for monitoring its activity].

Anti-neutrophil cytoplasmic antibodies (ANCA) have been reported to be a disease-specific marker for Wegener's granulomatosis (WG). In the present study we developed an enzyme-linked immunosorbent assay (ELISA) for detecting and quantifying ANCA. The cytoplasmic alpha-fraction of neutrophils obtained from healthy human donors was used as an antigen. The alpha-fraction was purified from supernatants of homogenized neutrophils by sucrose gradient centrifugation. Peroxidase conjugated rabbit anti-human IgG was used as a secondary antibody. Diluted sera from 13 patients with WG, 15 with Sjögren syndrome, 1 with polymorphic reticulosis, 3 with relapsing polychondritis, 4 with other collagen diseases, 4 with sinusitis and 18 healthy donors were examined. It was concluded that this ELISA was sufficiently specific and sensitive for WG, and the ELISA units correlated individually with the ANCA titers as determined by an indirect immunofluorescence technique. This ELISA provides precise ANCA quantitation and will be useful for the diagnosis of WG and for monitoring its activity.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed1994

[Four cases of olfactory neuroblastoma treated with craniofacial surgery].

We report 4 cases of olfactory neuroblastoma with anterior cranial fossa extension treated by craniofacial surgery. Three patients have been alive and well for 4 years, 1 year and 11 months after the initial treatment without major surgical complications but one patient died of local recurrence 11 months after treatment. Multidisciplinary surgery for olfactory neuroblastoma with intracranial extension permits radical tumor excision and reconstruction of the anterior skull base. This one-stage procedure combining neurosurgery and plastic surgery with pre or post-operative radiotherapy is considered to be essential for eradicating this tumor.

Adult↗
PubMed1993

[Birch pollen nasal allergy in Sapporo and its cross reactivity with alder pollen].

We reported here 53 cases of birch pollen nasal allergy treated in our department from 1990 to 1991. The 53 patients constituted 16% of 335 total nasal allergy patients. In recent years, the number of birch pollen nasal allergy patients has apparently been gradually increasing in Sapporo. Skin tests, radioallergosorbent test (RAST) determinations and nasal provocation tests were performed for the diagnosis of birch pollen nasal allergy, and high degrees of correlation were observed among these tests. Therefore, it seems to be reasonable to determine the birch pollen allergy with only a positive case history of early springtime hay fever and RAST determination. A high correlation coefficient (Rho) value was found with RAST determinations between birch pollen and alder pollen. Furthermore, RAST of alder pollen was significantly inhibited by birch pollen extracts. These results indicate cross reactivity, presumably due to partial immunologic identity between these two pollen allergens.

Adolescent↗
PubMed1993

[Clinical significance of anti-neutrophil cytoplasmic antibody (ANCA) for the diagnosis of Wegener's granulomatosis in the early stage].

In recent years, the prognosis of Wegener's granulomatosis (WG) has been dramatically improved by treatment with cyclophosphamide and glucocorticoids, if the diagnosis is made correctly in the early stage of the disease. However, it is often difficult to diagnose of WG relying only on clinical symptoms and histological confirmation with biopsy specimens. Anti-neutrophil cytoplasmic antibody (ANCA) has already been reported to have high sensitivity and specificity for WG. Since February, 1991, we examined this antibody level in the sera of patients suspected of having WG using an indirect immunofluorescence technique, and have experienced nine WG patients who were ANCA positive. Six of the 9 patients showed limited forms of WG before active generalized symptoms developed, and only 3 were diagnosed as having WG with pathologic findings from their biopsy samples. These results show that correct diagnosis of WG is possible with the aid of ANCA determination, even if the patient has a limited form of the disease and even without evidence of characteristic pathologic features of WG on biopsy specimens. Therefore, it is apparent that ANCA determination is a valuable tool for diagnosing WG as early as possible. In Japan, the ANCA test is not as yet a common laboratory examination and has only rarely been used as seromarker for the diagnosis and treatment of WG. We believe that ANCA determination is essential for the diagnosis of WG, especially in its early stage, which leads to a better prognosis for WG patients.

Adult↗
PubMed1992

Proteolytic processing sites producing the mature form of human cathepsin D.

1. The proteolytic processing sites of human lysosomal aspartic protease cathepsin D at which the intermediate single-chain form was converted into the mature two-chain form were determined. 2. The two chains were isolated by reversed-phase HPLC in order to investigate the cleavage sites of the enzyme. 3. Protein sequencing of the heavy chain, which was presumed to be derived from the C-terminal side in the single-chain enzyme, gave an N-terminal Leu 105. In addition, it revealed that there were also minor sequences, which commenced with Gly 106 and Gly 107. 4. A small C-terminal peptide was isolated from the light chain, which had been digested with two kinds of exogenous proteases. Sequence determination of this peptide, which was characterized as a nonapeptide by mass spectrometry, suggested that the C-terminus of the light chain was Ser 98. 5. These results indicate that a Ser 98-Ala 99 bond and an Ala 104-Leu 105 bond are cleaved to release 6 amino acid residues between the two chains.

Amino Acid Sequence↗
PubMed1991

Glycolipids in rat cochlea.

In recent years, the functions of glycolipids have been intensively studied. Before the research of the roles of glycolipids in the inner ear, it seemed to be necessary to demonstrate the composition of glycolipids at first. Therefore, rat cochlea has been examined for glycolipid composition in the present study. Glycolipids extracted from 200 cochlea samples were separated into neutral and acidic glycolipid fractions. Each fraction was analyzed by thin-layer chromatography. The neutral glycolipid was almost exclusively galactosylceramide (cerebroside) with trace amounts of globoside and unidentified glycolipids. In acidic glycolipids, sulfated galactosylceramide (cerebroside sulfate) was most abundant. Of the gangliosides (sialic acid-containing glycolipids), ganglioside GM3 (51.8%) was the predominant component, and GM2 (6.0%), GM1 (8.8%), GD3 (10.7%), GD1a (8.7%), GD1b (5.9%), and GT1b (3.6%) were also detected. In addition to these, rat cochlea also contained several, minor, unidentified gangliosides. This pattern of the cochlear acidic glycolipids is very similar to that of the renal acidic glycolipids. This finding seems to be very interesting when considering that the toxic side effects of aminoglycosides occur only in the kidney and the inner ear.

Animals↗
PubMed1990

[Leukemic infiltration of the mastoid bone--cytologic examination of exudate in the tympanic cavity as a useful diagnostic method].

Although otologic involvement by leukemic infiltration was supposed to be unusual, increasing number of cases have been reported in recent years, probably due to the advance of chemotherapy, improved remission rate and longer survival of leukemic patients. Two cases of myelogenous leukemia with infiltration of mastoid bone were reported. One is 15-year-old girl with acute myelogenous leukemia, which had been well controlled for 1 year, developed a sudden onset of facial nerve palsy. The other is 30-year-old female with chronic myelogenous leukemia and blastic crisis, complained hearing loss. As both cases had exudate in the tympanic cavity, the punctures were carried out through the eardrum. The pathological study of these exudate cells revealed the involvement of mastoid bone by leukemia. The cytologic examination of exudate in the tympanic cavity is simple, time-sparing and of little burden to the patient. This technique is very useful and supposed to take the place of the exploratory surgery of mastoid cavity which is previously considered necessary for the correct diagnosis.

Adolescent↗
PubMed1988

Elevated activity and increased mannose-6-phosphate in the carbohydrate moiety of cathepsin D from human hepatoma.

A significant elevation of cathepsin D activity was observed in six human hepatoma tissues as compared to 12 normal human livers. In isoelectric focusing experiments, cathepsin D purified from normal liver exhibited three different forms, with isoelectric points of 5.6, 6.1, and 6.7, while cathepsin D purified from hepatoma contained another five to six more acidic forms in addition to the forms observed in normal liver cathepsin D. When the tumor enzyme was treated with endo-beta-N-acetylglucosaminidase H followed by isoelectric focusing, the acidic components disappeared and were converted to forms identical to those of the normal liver cathepsin D. Determination of the mannose-6-phosphate content showed that hepatoma cathepsin D contains twice as much mannose-6-phosphate as normal liver cathepsin D. Peptide mapping and amino acid analysis showed that the protein moiety of cathepsin D from hepatoma is almost identical with that from normal liver. These findings indicate that the appearance of acidic variants in hepatoma cathepsin D is mainly due to changes in the oligosaccharide chains of the enzyme, which are closely associated with the increase of mannose-6-phosphate in the tumor enzyme.

Carcinoma, Hepatocellular↗