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101.
Yuji Oto Nobuyuki Murakami Keiko Matsubara Sohei Saima Hiroyuki Ogata Hiroshi Ihara Toshiro Nagai Tomoyo Matsubara 《American journal of medical genetics. Part A》2020,182(4):659-663
It is unclear whether hypothyroidism is present in patients with Prader–Willi syndrome (PWS). This study aimed to clarify the state of the hypothalamic–pituitary–thyroid axis and the effects of growth hormone (GH) treatment on thyroid function in pediatric patients with PWS. We retrospectively evaluated thyroid function in 51 patients with PWS before GH treatment using a thyroid‐releasing hormone (TRH) stimulation test (29 males and 22 females; median age, 22 months). We also evaluated the effect of GH therapy on thyroid function by comparing serum free triiodothyronine (fT3), free thyroxine (fT4), and thyroid stimulating hormone (TSH) levels at baseline, 1 year, and 2 years after GH therapy. TSH, fT4, and fT3 levels were 2.28 μU/ml (interquartile range [IQR]; 1.19–3.61), 1.18 ng/dl (IQR; 1.02–1.24), and 4.02 pg/dl (IQR; 3.54–4.40) at baseline, respectively. In 49 of 51 patients, the TSH response to TRH administration showed a physiologically normal pattern; in two patients (4.0%), the pattern suggested hypothalamic hypothyroidism (delayed and prolonged TSH peak after TRH administration). TSH, fT4, and fT3 levels did not change significantly during 1 or 2 years after GH treatment. The TSH response to TRH showed a normal pattern in most patients, and thyroid function did not change significantly during the 2 years after initiating GH treatment. 相似文献
102.
103.
Saigo K Sugimoto T Narita H Ryo R Matsui T Yamamoto M Kumagai S 《Rinsho byori. The Japanese journal of clinical pathology》2000,48(1):49-53
Plasma macrophage colony-stimulating factor(M-CSF) levels were determined during peripheral blood stem cell harvest and autologous stem cell transplantation(PBSCT). Plasma of 10 patients were analyzed by using ELISA system. The average peak values during PBSCT were quite higher than those during harvest(20,092 vs 1,681 pg/ml). Peak values were observed mainly around leukocyte nadir(Phase II) during harvest. On the other hand, they were detected just after pretreatment(Phase I) during PBSCT courses. Moreover, samples showing extremely high M-CSF values(Phase I) were associated with increase in serum LDH levels. These data suggest that plasma M-CSF in Phase I are mainly derived from chemotherapy-induced cellular damage during PBSCT courses, and there might be different mechanisms to raise M-CSF around the nadir of leukocytes. It is necessary to elucidate the biological meanings of M-CSF. 相似文献
104.
Shin Kobayashi Hiraku Uemura Takashi Kohda Toshiro Nagai Yasutsugu Chinen Kenji Naritomi Ei‐ichi Kinoshita Hirofumi Ohashi Kiyoshi Imaizumi Masato Tsukahara Yoshitsugu Sugio Hidefumi Tonoki Tatsuya Kishino Toshiaki Tanaka Masao Yamada Osamu Tsutsumi Norio Niikawa Tomoko Kaneko‐Ishino Fumitoshi Ishino 《American journal of medical genetics. Part A》2001,104(3):225-231
Silver‐Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (α and β) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST α coding region, and there were no significant mutations in the 5′‐flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST α were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS. © 2001 Wiley‐Liss, Inc. 相似文献
105.
Serological comparisons among piroplasm antigens of the benignTheileria species of cattle from Japan, Australia and Britain, which are frequently referred to asT. sergenti, T. buffeli andT. orientalis, were carried out. The results obtained from comparative enzyme-linked immunosorbent assay (ELISA) using sera from infected cattle suggest thatT. sergenti could be differentiated from bothT. buffeli andT. orientalis by their serological dissimilarities. Western blotting combined with two-dimensional polyacrylamide gel electrophoresis (2D-PAGE) revealed that both the 33-kDa piroplasm protein ofT. sergenti and the similar 34-kDa protein ofT. buffeli andT. orientalis corresponded to immunodominant antigens against cattle. The other 32-kDa proteins ofT. buffeli andT. orientalis also represented immunodominant antigens. Cross-reactivities of the 32-and 34-kDa proteins were observed betweenT. buffeli andT. orientalis, whereas the 33-kDa protein ofT. sergenti could be differentiated from the similar 34-kDa proteins ofT. buffeli/orientalis. The present study suggests thatT. sergenti should be separated fromT. buffeli andT. orientalis on the basis of their serological dissimilarities. 相似文献
106.
We previously reported the isolation of alphoid satellite clones from a human genomic library using a DNA immunoprecipitation with centromere protein B (CENP-B). Here, we have characterized the distribution of CENP-B-binding sites on the 3-kb BamHI repeats of the cos2 clone. Using in situ hybridization, this alphoid satellite was located primarily at the centromeric region of chromosome 6. The functional binding sites were mapped by precipitating the restriction fragments with recombinant CENP-B in vitro. One repeat (2B3-11) consisted of 19 copies of alphoid monomer, eight of which possessed the binding sites, while another (2B3-9) consisted of 18 copies of the monomer, seven of which possessed the binding sites. The distribution of the sites was well conserved between them, except for the terminus. A similar analysis with the remaining 6-kb region suggested the presence of a continuous 1-kb region with regular spacing of EcoRI sites and the CENP-B-binding sites. When the nucleotide sequence of 2B3-11 was compared with that of another chromosome 6-specific alphoid repeat (p308) that had been described previously, this 1-kb region was highly conserved between them. The distribution of the CENP-B binding sites and the order of alphoid monomers might define the folding of alphoid repeats in the centromeric region.This revised version was published online in November 2005 with corrections to the Cover Date. 相似文献
107.
Maeda Toshiro; Devens Bruce H.; Fukuse Satoshi; Turck Christoph; Webb David R. 《International immunology》1995,7(8):1339-1351
Previous studies of the TCR chain gene have located promoterelements 5' to the start of the various V genes. The only fullycharacterized enhancer for the entire chain gene (V, J andC genes) has been located {small tilde}3 kb from the 3' endof C. We now report the existence of additional regulatory elementslocated in the introns of several murine V genes (V1, V3 andVB6.2.16). In the case of V1, this element appears to be a promoterwith bidirectional activity that is not T cell specific. Interestingly,upstream of the promoter in the antisense strand, an open readingframe has been found that codes for a small molecular weightprotein ({small tilde}60 amino acids) that contains a prollne-richregion and a tyrosine-isoleucine motif that has homology toIgß (the B29 gene product). A rabbit antiserum madeagainst this sequence has confirmed its existence by Westernblot and immunoprecipitation. Thus this V1 intronic promoterhas the potential not only to induce the formation of a truncatedV1 gene product, but also regulates the expression of a smallmolecular weight protein that may be involved in lymphocyteantigen receptor signaling. The activity of this promoter isregulated by changes in intracellular calcium. In the presenceof ionomycin the promoter is down-regulated in the sense directionand its activity is enhanced in the antisense direction. Thisresult suggests that this promoter can act differentially toproduce two very different gene products. The bidirectionalV1 promoter appears to be the first in the Ig superfamily toinduce potentially functional proteins in both directions. 相似文献
108.
Kunikata T Yamane H Segi E Matsuoka T Sugimoto Y Tanaka S Tanaka H Nagai H Ichikawa A Narumiya S 《Nature immunology》2005,6(5):524-531
Prostaglandins, including PGD(2) and PGE(2), are produced during allergic reactions. Although PGD(2) is an important mediator of allergic responses, aspirin-like drugs that inhibit prostaglandin synthesis are generally ineffective in allergic disorders, suggesting that another prostaglandin-mediated pathway prevents the development of allergic reactions. Here we show that such a pathway may be mediated by PGE(2) acting at the prostaglandin E receptor EP3. Mice lacking EP3 developed allergic inflammation that was much more pronounced than that in wild-type mice or mice deficient in other prostaglandin E receptor subtypes. Conversely, an EP3-selective agonist suppressed the inflammation. This suppression was effective when the agonist was administered 3 h after antigen challenge and was associated with inhibition of allergy-related gene expression. Thus, the PGE(2)-EP3 pathway is an important negative modulator of allergic reactions. 相似文献
109.
Thrombocytosis in preterm infants: a possible involvement of thrombopoietin receptor gene expression 总被引:2,自引:0,他引:2
Nakayama H Ihara K Hikino S Yamamoto J Nagatomo T Takemoto M Hara T 《Journal of molecular medicine (Berlin, Germany)》2005,83(4):316-320
Transient thrombocytosis is commonly observed in preterm infants after birth, but its physiological mechanism is still unknown. To understand the mechanism of the transient thrombocytosis in preterm infants we firstly evaluated a correlation between platelet counts and thrombopoietin (TPO) levels in preterm infants and next c-mpl mRNA levels on platelets in healthy preterm infants longitudinally during a half-year of life. The mean platelet counts in 45 very low birth weight infants (mean gestational age 27.4±1.8 weeks, mean birth weight 1047±249 g) was 230±71×109/l just after birth and thereafter gradually increased to 579±178×109/l by 5 weeks of age. The platelet counts continued this level for about next 8 weeks. Serum TPO levels soon after birth and at 1 month of age were significantly higher than those at the age of 2–6 months. There was a significant negative correlation between platelet counts and serum TPO values. The c-mpl expression levels on platelets at birth and at 1 month of age tended to be lower than those on platelets from adults, and the c-mpl levels gradually increased through 6 months of age, although they were still lower than those of adults. Our results suggest that low expression of TPO receptor on platelets until 1 month after birth cause a decreased TPO clearance and keep a high level of free TPO in blood, thereby promoting platelet production from megakaryocytes or their progenitors in bone marrow, resulting in the subsequent thrombocytosis in preterm infants. 相似文献
110.
Chronologic changes of activities of naphthol AS-D acetate esterase and other nonspecific esterases in the mononuclear phagocytes of tuberculous lesions.
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T. Tsuda M. Ando K. Shima M. Sugimoto O. Onizuka H. Tokuomi 《The American journal of pathology》1979,97(2):235-246
Nonspecific esterases of mononuclear phagocytes (MNs) were studied histochemically in the developing and healing tuberculous lesions produced in rabbit skin by bacille Calmette Guérin (BCG). Nonspecific esterases were assayed with the following substrates: naphthol AS-D acetate (AS-D), naphthol AS-D chloroacetate (AS-D Chl), naphthol AS acetate (AS) and alpha-naphthyl acetate (alpha-N), beta-Galactosidase, a lysosomal enzyme of MNs, was also assayed as a marker of MN activation. The number of MNs hydrolyzing AS-D Chl, AS, and alpha-N increased for 2 to 4 weeks after infection. These chronologic changes were similar to that of beta-galactosidase. In contrast, MNs hydrolyzing AS-D appeared predominantly in the healing lesions five to six weeks after infection. These MNs had the morphologic features of balloon-like cells. They contained few lysosomes and gathered in clumps far from the caseous center. The activity of the AS-D esterase was almost completely inhibited by various trypsin inhibitors, but not by the serine esterase inhibitor of phenylmethylsulfonyl-fluoride. These results suggest that the AS-D esterase is a trypsin-like esterase which participates in the healing of tuberculous lesions. 相似文献