[Case of polyglandular autoimmune syndrome with Schmidt's syndrome complicated with Sjogren's syndrome].
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Female↗
Biomedical subjects
K Kamijo
Publications and source records attributed to K Kamijo.
Molecular cloning of cDNA encoding rat very long-chain acyl-CoA synthetase.
The cDNA encoding rat very long-chain acyl-CoA synthetase (VLACS) was cloned, using degenerative primers synthesized according to the partial amino acid sequences of the peptide fragments of the purified rat liver enzyme. The longest cDNA insert was 2972 base pairs with a 1860-base pair open reading frame encoding 620 amino acids. The calculated molecular mass of 70,692 daltons was consistent with size of the purified enzyme. In Northern blot analysis, a single band was detected at the position of about 3 kilobases, corresponding to the size of the cloned cDNA. cDNA-directed expression in Escherichia coli resulted in accumulation of expressed protein, as an inclusion body. An antibody was raised using this expressed protein to characterize the cDNA and the enzyme. The subcellular localization of VLACS in peroxisomes and microsomes was demonstrated in Western blot analysis. The specific activity and the substrate specificity of the cDNA expressed enzyme in COS-1 cells were consistent with those of the purified rat enzyme. The predicted amino acid sequence of VLACS had a high sequence similarity to fatty acid transport protein (Schaffer, J. E., and Lodish, H. F. (1994) Cell 79, 427-436), and was considered to have domains for adenylation and thioester formation. The entire structure of VLACS was dissimilar to that of long-chain acyl-CoA synthetase (Suzuki, H., Kawarabayashi, Y., Kondo, Y., Abe, T., Nishikawa, K., Kimura, S., Hashimoto, T., and Yamamoto, T. (1990) J. Biol. Chem. 265, 8681-8685), except for the domains.
Amino Acid Sequence↗
Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients.
Zellweger syndrome is a prototype of peroxisomal biogenesis disorders and a fatal autosomal recessive disease with no effective therapy. We identified nine genetic complementation groups of these disorders, and mutations in peroxisome assembly factor-1 (PAF-1) and the 70-kD peroxisomal membrane protein (PMP70) genes have been detected by our group F and Roscher's group 1, respectively. We now describe permanent recovery from generalized peroxisomal abnormalities in fibroblasts of a Zellweger patient from group F, such as biochemical defects of peroxisomal beta-oxidation, plasmalogen biosynthesis, and morphologic absence of peroxisomes, by stable transfection of human cDNA encoding PAF-1. In the light of these observations, we designed a gene expression system using fibroblasts from patients with peroxisomal biogenesis disorders. In Zellweger fibroblasts obtained from Roscher's group 1 and transfected with human cDNA encoding PMP70, peroxisomes were not morphologically identifiable, and peroxisomal function did not normalize.
ATP-Binding Cassette Transporters↗
A finite element model of the human face. Stress distribution around the chin due to articulation of the five vowels in Japanese.
In this study the authors set out to investigate the stress distribution around the chin due to articulation, and to discuss whether the calculated stresses can cause bone remodeling. A finite element model of facial soft tissue was constructed and movements related to the articulation of the five basic Japanese vowel sounds were reproduced individually on the model. The stress distribution of each vowel depended on the shapes formed by the lips and the degree of mandibular opening. Stresses increased with the strain on the soft tissue of the lips. It seemed unlikely that the calculated stress alone was sufficient to produce a hypertrophic increase in modeling. However, it seemed that muscle forces might produce an effective strain load with a range sufficient to cause bone remodeling by accumulation of stresses around the chin.
Biomechanical Phenomena↗
Studies of temporomandibular joint sounds; Part 4. Phase relations of TMJ sounds and jaw movement.
A study was conducted to investigate the timing relationship of temporomandibular joint (TMJ) sounds during mandibular movement, as evaluated by the location of the condyle, in relation to the articular fossa using axiograph recording. TMJ sounds during jaw opening and closing occurred over a wide range: opening sounds were observed within a range of 41-100% of maximum opening, while closing sounds occurred within 1-80% of maximum opening. In calculating the peak frequency of the joint sounds, it was noted that there was no correlation between the timing of the sound and its peak frequency. This study revealed that the acoustic characteristics of TMJ sounds may be unaffected by the location of the condyle.
Auscultation↗
A metalloprotease-disintegrin participating in myoblast fusion.
Skeletal muscle development involves the formation of multi-nucleated myotubes. This is thought to proceed by the induction of differentiation (acquisition of fusion competence) of myoblast cells, their aggregation, and union of their plasma membranes. Various membrane proteins including N- and M-cadherins, N- and V-CAMs and integrins participate in myotube formation, but the molecular mechanisms of muscle cell fusion are poorly understood. Here we report the identification of three new, myoblast-expressed gene products, meltrin-alpha, beta and gamma, with homology to both viper haemorrhagic factors and fertilin (PH-30), a membrane protein involved in egg-sperm fusion. Meltrin-alpha, a member of the metalloproteinase/disintegrin protein family, appears to be required for myotube formation. Involvement of a fertilin-related protein in myogenesis suggests that there are common mechanisms in gamete and myoblast fusion.
ADAM Proteins↗
Polymyositis associated with thymoma and the subsequent development of pure red cell aplasia.
A 53-year-old woman with polymyositis associated with thymoma subsequently developed pure red cell aplasia (PRCA). She was hospitalized because of fever and muscle weakness, and diagnosed as having polymyositis by muscle biopsy. Remarkable clinical improvement followed administration of prednisolone. Progressive anemia became evident, however, while prednisolone was being tapered. Erythroid aplasia and the presence of thymoma confirmed the diagnosis of PRCA. Further examinations revealed that cytotoxic T cells may play an important role in the pathogenesis of this case.
Cytotoxicity, Immunologic↗
Development of transient thyroid disease and reaction during treatment of chronic hepatitis C with interferon.
Six of 50 (12%) patients with chronic hepatitis C who were treated with interferon developed thyroid disease or an autoimmune thyroid reaction while undergoing treatment. One patient developed silent thyroiditis, with an increase in serum triiodothyronine (T3), thyroxine (T4), free T3, free T4, and markedly suppressed thyroid-stimulating hormone (TSH) levels, accompanied by the appearance of both antithyroglobulin (TgAb) and antimicrosomal antibodies (McAb). One patient developed hypothyroidism in association with moderately elevated TSH levels and high titers of McAb. TSH, TgAb, and McAb levels returned to the initial values at least 4 months after the end of interferon treatment (9 months of follow up). Four patients whose TgAb and/or McAb levels were elevated during treatment with interferon had been diagnosed as having subclinical autoimmune thyroiditis; however, their thyroid function remained in the normal range. These results suggested that treatment with interferon can cause a transient autoimmune thyroid reaction and disease as a side effect.
Autoantibodies↗
Clinical studies on thyroid CT number in chronic thyroiditis.
The purpose of the present study is to investigate by a computed tomography (CT) thyroid CT number (Hounsfield units; H.U.) in chronic thyroiditis (CH). The correlation of the CT value with the concentration of KI solution in the test tube of thyroid phantom for thyroid scintigram was linear. No significant correlation between thyroid CT number and the urinary iodine concentration was also observed in 36 patients with CH. A mean thyroid CT number (+/- SD) of 81 +/- 24 H.U. in 155 patients with CH was significantly (P < 0.001) lower than 125 +/- 18 H.U. in 95 normal subjects. The patients with CH could be arbitrarily divided into 3 groups according to the decrease in their thyroid CT number: normal (N) group (> or = 88 H.U.), moderately decreased (MD) group (70-87 H.U.) and the greately decreased (GD) group (< 70 H.U.). There was a significant difference in the thyroid volume among 21.2 +/- 9.1 cm3 in the N group, 32.2 +/- 18.1 in the MD group (P < 0.05 vs. N group) and 43.6 +/- 23.3 in the GD group (P < 0.01 vs. N and MD group). The mean serum TSH concentration of 38.95 +/- 54.61 microU/ml in the SD group was significantly (P < 0.1) higher than either 4.11 +/- 3.64 in the MD group or 2.00 +/- 1.43 in the N group. The serum TSH level in the MD group differed significantly (P < 0.05) from that of the N group.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Clinical studies on thyroid CT number in Graves' disease and destructive thyrotoxicosis.
The purpose of the present study was to investigate by a computed tomography (CT) the Hounsfield unit (H.U.) of the thyroid in hyperthyroid and euthyroid Graves' disease and destructive thyrotoxicosis. The mean thyroid CT number in 95 controls was 122 +/- 18 H.U. (+/- SD) and did not change significantly with advancing age. The mean thyroid CT number (+/- SD) of 85 +/- 22 H.U. in 60 patients with hyperthyroid Graves' disease was significantly (P < 0.001) lower than either in normal controls or 116 +/- 22 H.U. in 11 patients with euthyroid Graves' disease (P < 0.001). Comparison of thyroid hormones and TSH receptor Ab values of untreated patients with a normal and an abnormally low thyroid CT number showed that serum total and free T3 were significantly (P < 0.05) higher in the latter group than in the former group. With respect to the effect of methimazole (MMI) on the thyroid CT number, in the untreated 10 patients with a low thyroid CT number, the initial mean CT number was 65 +/- 11 H.U. and increased significantly (P < 0.05) to 76 +/- 14 H.U. after treatment with MMI. In contrast, in 6 patients with a normal thyroid CT number prior to therapy, the initial mean thyroid CT number was 102 +/- 11 H.U. and fell significantly (P < 0.05) to 84 +/- 16 H.U. after treatment with MMI.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
An episode of silent thyroiditis in a patient with chronic thyroiditis and papillary adenocarcinoma following alpha interferon treatment for hepatitis C.
In the present paper we described the first case report of silent thyroiditis following alpha-interferon (IFN-alpha) treatment for chronic type C hepatitis in Japan. A 51-year-old woman with chronic type C hepatitis was treated with 6 million units of IFN-alpha three times a week for 24 weeks. Thyroid function was within normal limits and thyroid autoantibodies were negative before IFN therapy. Sixteen weeks after initiation of the treatment, she complained of increasing fatigue, palpitation and losing 7 kg in weight. Thyroid function tests at that time revealed an increase in serum T3, T4, free T3 and free T4 and a markedly suppressed TSH concentration. Both antithyroglobulin antibody (TgAb) and antimicrosomal antibody (McAb) were positive in a dilution of 1: 400. The computed tomographic (CT) scan of the thyroid showed a decrease in the CT number (Hounsfield unit; H.U.) to 58 H.U. (normal, 95-167 H.U.). The 24-h thyroid uptake of 123I was 0.75%. Aspiration biopsy specimens from a nodule in the right lobe and the remaining struma disclosed papillary adenocarcinoma and Hashimoto thyroiditis, respectively. Thyroid function spontaneously returned to normal two months after the onset of thyrotoxicosis through the subclinical hypothyroid stage. After recovery of thyroid function, patient had an operation of papillary cancer without any complications. These clinical features and laboratory findings led to the diagnosis of silent thyroiditis developing in the course of the long-term IFN therapy, which, to our knowledge, has not been reported before in Japan.
Adenocarcinoma, Papillary↗
[PMP70, the 70-kDa peroxisomal membrane protein: a member of the ATP-binding cassette transporters].
We have isolated the cDNA of the 70-kDa peroxisomal membrane protein (PMP70) from rat and human liver cDNA libraries. The nucleotide sequence of the cDNA of PMP70 contains an open reading frame of 1977 bp which encodes an amino acid sequence of 659 residues. Possible two domains were identified by hydropathy analysis. One is a hydrophobic region, which presumably contains six transmembrane segments. The other is a hydrophilic domain, which shows striking similarity to the sequences of the ATP-binding cassette (ABC) transporter proteins, including bacterial periplasmic transport proteins, the human multidrug resistance P-glycoprotein (MDR1), cystic fibrosis transmembrane conductance regulator (CFTR), and the putative adrenoleukodystrophy gene product (ALDP). Based on its transmembrane structure and the homology to ABC proteins, PMP70 may be involved in ATP-dependent transport through peroxisomal membrane.
ATP-Binding Cassette Transporters↗
[A case of latent Addison's disease with hypogonadotropic hypogonadism and dwarfism].
A case of latent Addison's disease accompanied by hypogonadotropic hypogonadism and dwarfism is described. A 20-year-old man was admitted to our department complaining of short stature and immature development of the external genitalia. Pigmentation was most evident on the fingers and face. Endocrinologically, serum ACTH level was very high, and serum cortisol level was in the lower limit of the normal range. Serum aldosterone and adrenal androgen levels were below their normal ranges. Based on these clinical and laboratory findings, the patient was diagnosed as having latent Addison's disease. Serum LH did not respond to a bolus injection of LH-RH. However, after 3 days administration of LH-RH, the response of serum LH to a bolus injection of LH-RH was enhanced. Serum testosterone level was not increased after the administration of hCG. These findings suggested a hypothalamic cause for the hypogonadism. It was indicated that short stature was apparently caused by GH neurosecretory dysfunction, since nocturnal GH secretion was below that in normal males and the response of GH to the administration of arginine was normal. In regard to the thyroid function, the peak of serum TSH after a bolus injection of TRH was delayed compared with normal subjects, and although serum T4 level was high, the basal metabolic rate was very low. This suggests that there is tissue resistance to the elevated thyroid hormone.
Addison Disease↗
Nucleotide sequence of the human 70 kDa peroxisomal membrane protein: a member of ATP-binding cassette transporters.
The cDNA sequence of human liver 70 kDa peroxisomal membrane protein (hPMP70) was determined. The nucleotide sequence contains an open reading frame of 1977 base pairs and encodes an amino acid sequence of 659 residues which exhibits 95.0% identity with that of rat liver PMP70. hPMP70 shares close similarity to the members of a superfamily of ATP-binding transport proteins.
Amino Acid Sequence↗
Positive and negative gene regulation in muscle.
By the analysis of cis and trans-acting element involved in transcriptional regulation of chicken myosin alkali light chain genes, we have identified the MLC box, muscle specific enhancer element and negative regulatory element. The MLC box is an essential element for the expression of MLC genes located at approximately 100 bp upstream from mRNA start sites. The core sequence of MLC box is similar to the consensus of actin gene CArG box and SRE of c-fos oncogene. In vitro DNA-protein binding assay has revealed that the MLC box, CArG box and SRE might bind to a common or a similar protein complex. CMD1, cMyogenin, and cMRF4 transactivate the promorter with an intact MLC box, but not the promoter lacking MLC box, indicating that the MLC box itself is transactivated by the myogenic regulatory factors. This transactivation must have been due to the indirect effect of the myogenic regulatory factors, because chicken myogenic factors do not bind to the MLC box. A cis element identified at about 150 bp upstream from the cap site of cardiac MLC gene suppresses the cardiac MLC gene expression in skeletal muscle cells but not in cardiac muscle cells. The protein(s) bound to NRE might be identical with one of proteins bound to SRE. NRE may block the function of MLC box and resultantly inhibits the expression of cardiac MLC1 gene in skeletal muscle cells. Skeletal muscle enhancer at -2 kb of skeletal MLC1f gene is composed of two subelements P and D, cooperative action between them is required for sufficient enhancer activity. CMD1 and myogenin bind to the enhancer sequences of skeletal MLC1 gene and MCK gene and transactivate these genes preferentially in skeletal muscle cells. In addition to the CMD1 responsible enhancer, another cis-element is required for transactivation of the MLC1f gene by cMyogenin. An E-box adjacent to MLC box may co-work with the enhancer to increase the expression of MLC1f gene. Muscle specific and developmentally regulated expression of MLC gene family is regulated by the combination of these cis and trans-acting elements.
Animals↗
[A case of hepatic amyloidosis with hepatic failure].
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Aged↗
Effects of bromocriptine on experimental GH3 cell tumors.
Bromocriptine in concentrations up to 10(-4) M was studied for morphological and endocrinological effects upon the GH3 cell line as well as the GH1 and AtT-20 cell lines. The cells (10(5)/ml) were incubated with RPMI 1640 or in some experiments Dulbecco's Modified Eagle's Medium supplemented with 10% FCS. Bromocriptine was added in concentrations of 10(-4) to 10(-8) mol/L and aliquots of medium were obtained at 2 and 24 hs for the determination of growth hormone and prolactin. Significant reductions in concentrations of growth hormone and prolactin as well as cell number were observed with a concentration of bromocriptine of 10(-4) M at 24 hs. The electron microscopic appearance of GH3 cells treated with 10(-4) mol/L concentrations of bromocriptine for 24 hs demonstrated extensive and marked vacuolization in the cytoplasm which had already appeared 2 hs after treatment with bromocriptine. In bromocriptine-treated (10(-4) mol/L for 24 hs) GH1 cells and AtT-20 cells, the morphologic features were essentially unchanged, compared to the untreated group. Since many previous reports demonstrated a defective dopamine receptor system in GH3 cells, it must be concluded that bromocriptine has an extradopaminergic action which is selectively observed in GH3 cell.
Animals↗
An ACTH and FSH producing invasive pituitary adenoma with Crooke's hyalinization.
We report on a patient with ACTH and FSH producing invasive pituitary adenoma complaining of cutaneous pigmentation. Elevations in plasma ACTH, beta-endorphin and cortisol levels as well as urinary 17-OHCS and cortisol excretion were found. Serum FSH concentration was just within the upper limit of the normal range, whereas serum LH level was reduced and alpha-subunit level was normal. Roentogenographic examination showed an almost complete loss of sellar floor and destruction of the posterior clinoids and dorsum sella. CT scan and MRI demonstrated an enlarged tumor invasion of the clivus and its extension to the sphenoid sinus. After subtotal removal of the large pituitary tumor, serum cortisol and plasma beta-endorphin levels as well as plasma ACTH concentrations returned to normal and serum FSH levels also remarkably decreased. Histologically, the tumor corresponded to a chromophobe, slightly PAS positive adenoma. These tumor cells exhibited positive immunostaining with antibody to ACTH (1-24), beta-LPH, beta-endorphin and FSH, while immunostaining of the adenoma cells was negative for LH, TSH, GH and prolactin. The immunogold technique also demonstrated ACTH and FSH particles in the secretory granules in the cytoplasm of the adenoma cells. Some of the tumor cells disclosed Crooke's hyalinization and type I microfilament occupied most of the cytoplasm. In the present study, a very rare case of ACTH and FSH producing invasive pituitary adenoma is reported.
Adenoma↗