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Fukami M Horikawa R Nagai T Tanaka T Naiki Y Sato N Okuyama T Nakai H Soneda S Tachibana K Matsuo N Sato S Homma K Nishimura G Hasegawa T Ogata T 《The Journal of clinical endocrinology and metabolism》2005,90(1):414-426
We report on molecular and clinical findings in 10 Japanese patients (four males and six females) from eight families (two pairs of siblings and six isolated cases) with Antley-Bixler syndrome accompanied by abnormal genitalia and/or impaired steroidogenesis. Direct sequencing was performed for all the 15 exons of cytochrome P450 oxidoreductase gene (POR), showing two missense mutations (R457H and Y578C), a 24-bp deletion mutation resulting in loss of nine amino acids and creation of one amino acid (L612_W620delinsR), a single bp insertion mutation leading to frameshift (I444fsX449), and a silent mutation (G5G). R457H has previously been shown to be a pathologic mutation, and computerized modeling analyses indicated that the 15A>G for G5G could disturb an exonic splicing enhancer motif, and the remaining three mutations should affect protein conformations. Six patients were compound heterozygotes, and three patients were R457H homozygotes; no mutation was identified on one allele of the remaining one patient. Clinical findings included various degrees of skeletal features, such as brachycephaly, radiohumeral synostosis, and digital joint contractures in patients of both sexes, normal-to-poor masculinization during fetal and pubertal periods in male patients, virilization during fetal life and poor pubertal development without worsening of virilization in female patients, and relatively large height gain and delayed bone age from the pubertal period in patients of both sexes, together with maternal virilization during pregnancy. Blood cholesterol was grossly normal, and endocrine studies revealed defective CYP17A1 and CYP21A2 activities. The results suggest that Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis is caused by POR mutations, and that clinical features are variable and primarily explained by impaired activities of POR-dependent CYP51A1, CYP17A1, CYP21A2, and CYP19A1. 相似文献
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Ebara S Song SN Mizuta H Ito Y Hasegawa K Kamata T Matsumura-Nishikawa T Ogawa T Soneda J Yoshizaki K 《International journal of hematology》2012,95(2):198-203
Dysregulated overproduction of interleukin-6 (IL-6) from activated B cells in affected lymph nodes has been implicated in
the pathogenesis of multicentric Castleman’s disease (MCD), a rare lymphoproliferative disorder accompanied by systemic manifestations.
We here report the case of a 32-year-old female presenting with MCD associated with a dermoid cyst in the pelvic cavity. The
co-occurrence of MCD and dermoid cyst has not been reported before. Immunohistochemical analysis of the tissue sections showed
IL-6 production in CD68-positive macrophage cells, which had infiltrated the dermoid cyst. Removal of the cyst resulted in
partial improvement in systemic symptoms accompanied by a decrease in serum IL-6, while complete improvement was obtained
by treatment with an anti-IL-6 receptor antibody following resection of the dermoid cyst. To the best of our knowledge, this
is the first study to provide evidence of IL-6 production by CD68+ cells in a dermoid cyst involved in MCD. 相似文献
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Ishitani Ken Isoai Ayako Ito Tetsuya Sugiyama Hiroshi Arakawa Atsushi Yamada Yosuke Onodera Hirokazu Kobayashi Ryosuke Torii Naoko Soneda Noriko Matsuno Yoshihiro Utsugisawa Taiju Kato Michio Hanafusa Norio 《International journal of clinical oncology / Japan Society of Clinical Oncology》2021,26(6):1130-1138
International Journal of Clinical Oncology - Cell-free and concentrated ascites reinfusion therapy (CART) has been suggested to be able to treat malignant ascites more safely and effectively with... 相似文献
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Akiko Soneda Masanori Adachi Koji Muroya Yumi Asakura Masaki Takagi Tomonobu Hasegawa Hiroshi Inoue Mitsuo Itakura 《Growth hormone & IGF research》2013,23(4):89-97
ObjectiveTo elucidate the pathogenesis of isolated growth hormone (GH) deficiency in a Japanese girl without consanguinity.DesignA 2-year-old girl of height 77.2 cm (? 3.0 SD for Japanese girls) was found to have an insulin-like growth factor (IGF)-1 level of 7 ng/mL and IGF binding protein-3 (IGFBP-3) level of 0.41 μg/mL. GH responded modestly to a series of pharmacological stimulants, increasing to 2.81 ng/mL with insulin-induced hypoglycemia, 3.78 ng/mL with arginine, and 3.93 with GH-releasing hormone (GHRH). Following direct sequencing of the GHRH receptor (GHRHR) gene, evaluation by the luciferase reporter assay, immunofluorescence study, and in vitro splicing assay with minigene constructs was conducted.ResultsNovel compound heterozygous GHRHR gene mutations were identified in the patient. A p.G136V substitution elicited no luciferase activity increment in response to GHRH stimulation, with normal membranous expression. Splicing assay demonstrated that the IVS2 + 3a > g mutation would lead to aberrant splicing.ConclusionsA case of isolated GH deficiency due to novel GHRHR gene mutations was identified. 相似文献
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Akiko?Soneda Hideki?Teruya Noritaka?Furuya Hiroshi?Yoshihashi Keisuke?Enomoto Aki?Ishikawa Kiyoshi?Matsui Kenji?KurosawaEmail author 《European journal of pediatrics》2012,171(2):301-305
Genetic disorders and birth defects account for a high percentage of the admissions in children’s hospitals. Congenital malformations
and chromosomal abnormalities are the most common causes of infant mortality. So their effects pose serious problems for perinatal
health care in Japan, where the infant mortality is very low. This paper describes the reasons for admissions and hospitalization
at the high-care unit (HCU) of a major tertiary children’s referral center in Japan. We retrospectively reviewed 900 admission
charts for the period 2007–2008 and found that genetic disorders and malformations accounted for a significant proportion
of the cases requiring admission to the HCU. Further, the rate of recurrent admission was higher for patients with genetic
disorders and malformations than for those with acquired, non-genetic conditions. Over the past 30 years, admissions attributed
to genetic disorders and malformations has consistently impacted on children’s hospital and patients with genetic disorders
and malformations form a large part of this facility. These results reflect improvements in medical care for patients with
genetic disorders and malformations and further highlight the large proportion of cases with genetic disorders, for which
highly specialized management is required. Moreover, this study emphasizes the need for involvement of clinical geneticists
in HCUs at children’s hospitals. 相似文献