著者

Yoshihisa Fukuda Yusuke Higuchi Kanae Shinozaki Yuji Tanigawa Taro Abe Nobuyoshi Hanaoka Sunao Matsubayashi Tomomi Yamaguchi Tomoki Kosho Koji Nakamichi

出版者

一般社団法人 日本内科学会

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.8758-16, (Released:2017-09-15)

参考文献数

25

被引用文献数

7

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Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum. She was finally discharged with a dramatic resolution of her symptoms after laparoscopic cecopexy for mobile cecum.

著者

Shin SHIMADA Takahiro YOSHIZAWA Yuki TAKAHASHI Yuko NITAHARA-KASAHARA Takashi OKADA Yoshihiro NOMURA Hitoki YAMANAKA Tomoki KOSHO Kiyoshi MATSUMOTO

出版者

Japanese Association for Laboratory Animal Science

雑誌

Experimental Animals (ISSN:13411357)

巻号頁・発行日

vol.69, no.4, pp.407-413, 2020 (Released:2020-11-12)

参考文献数

19

被引用文献数

2 3

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Ehlers–Danlos syndromes (EDSs) are heterogeneous group of heritable connective tissue disorders characterized by joint and skin hyperextensibility as well as fragility of various organs. Recently, we described a new type of EDS, musculocontractual EDS (mcEDS-CHST14), caused by pathogenic variants of the carbohydrate sulfotransferase 14 (CHST14) gene mutation. B6;129S5-Chst14tm1Lex/Mmucd (B6;129-Chst14 KO) mice are expected to be an animal model of mcEDS-CHST14. However, >90% of B6;129-Chst14 KO homozygous (B6;129-Chst14−/−) mice show perinatal lethality. Therefore, improvement of the birth rate of Chst14−/− mice is needed to clarify the pathophysiology of mcEDS-CHST14 using this animal model. Some B6;129-Chst14−/− embryos had survived at embryonic day 18.5 in utero, suggesting that problems with delivery and/or childcare may cause perinatal lethality. However, in vitro fertilization and egg transfer did not improve the birth rate of the mice. A recent report showed that backcrossing to C57BL/6 strain induces perinatal death of all Chst14−/− mice, suggesting that genetic background influences the birthrate of these mice. In the present study, we performed backcrossing of B6;129-Chst14 KO mice to a BALB/c strain, an inbred strain that shows lower risks of litter loss than C57BL/6 strain. Upon backcrossing 1 to 12 times, the birth rate of Chst14−/− mice was improved with a birth rate of 6.12–18.64%. These results suggest that the genetic background influences the birth rate of Chst14−/− mice. BALB/c congenic Chst14−/− (BALB.Chst14−/−) mice may facilitate investigation of mcEDS-CHST14. Furthermore, backcrossing to an appropriate strain may contribute to optimizing animal experiments.

著者

Masashi Uehara Yukio Nakamura Jun Takahashi Mikio Kamimura Shota Ikegami Takako Suzuki Shigeharu Uchiyama Tomomi Yamaguchi Tomoki Kosho Hiroyuki Kato

出版者

Tohoku University Medical Press

雑誌

The Tohoku Journal of Experimental Medicine (ISSN:00408727)

巻号頁・発行日

vol.242, no.2, pp.115-120, 2017 (Released:2017-06-16)

参考文献数

25

被引用文献数

10 18

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Osteogenesis imperfecta (OI) is an inherited bone disorder that causes fractures due to impaired production of collagen type I. In recent years, denosumab, a human monoclonal antibody against receptor activator of nuclear factor κB ligand (RANKL), has become widely used as an anti-osteoclastic agent for osteoporosis. This study investigated osteoporotic cases of OI to examine effects of denosumab on bone fragility. This was a retrospective, consecutive case series that included 3 female patients aged 42, 40, and 14 years, respectively. One patient carries a point mutation (c.G769A) in the COL1A1 gene, encoding collagen type I alpha 1 chain, which causes an amino-acid substitution (p.G257R). By contrast, no mutation was found in the analyzed regions of the OI responsive genes in another two patients (mother and daughter). These three patients underwent subcutaneous injection of denosumab every 6 months. All patients underwent dual-energy X-ray absorptiometry for bone mineral density (BMD) measurement of the lumbar 1-4 spine (L-BMD) and bilateral hips (H-BMD) before and during treatment. BMD and laboratory data were evaluated before, between 2 and 4 months, and at 6, 12, 18, and 24 months of therapy. No fractures or severe side effects, such as hypocalcemia, were observed during denosumab treatment. Both L-BMD and H-BMD were increased by denosumab. At 24 months, the mean percentage changes in L-BMD and H-BMD were 14.7% and 15.1%, respectively. In conclusion, no bone fragility fractures occurred during 2 years of denosumab administration in OI patients. Denosumab therefore is a good therapeutic option in the OI patients.

著者

Yoshihisa Fukuda Yusuke Higuchi Kanae Shinozaki Yuji Tanigawa Taro Abe Nobuyoshi Hanaoka Sunao Matsubayashi Tomomi Yamaguchi Tomoki Kosho Koji Nakamichi

出版者

一般社団法人 日本内科学会

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.56, no.20, pp.2791-2796, 2017-10-15 (Released:2017-10-15)

参考文献数

25

被引用文献数

7

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Ehlers-Danlos syndrome, hypermobility type (EDS-HT) is unexpectedly common and is associated with a high rate of gastrointestinal manifestations. We herein report the first documented case of mobile cecum associated with EDS-HT. A 21-year-old woman with repeated right lower abdominal pain was initially diagnosed with EDS-HT. Abdominal examinations performed in the supine position, such as CT and ultrasonography, showed no gross abnormalities. In contrast, oral barium gastrointestinal transit X-ray images obtained with changes in the patient's body position revealed position-dependent cecal volvulus with mobile cecum. She was finally discharged with a dramatic resolution of her symptoms after laparoscopic cecopexy for mobile cecum.

著者

Yohei Akazawa Noriko Motoki Akira Tada Shoko Yamazaki Akira Hachiya Satoshi Matsuzaki Motoko Kamiya Tomohiko Nakamura Tomoki Kosho Yuji Inaba

出版者

日本循環器学会

雑誌

Circulation Journal (ISSN:13469843)

巻号頁・発行日

pp.CJ-16-0739, (Released:2016-10-13)

参考文献数

34

被引用文献数

22

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Background:The characteristics of aortic elasticity are unclear in children with connective tissue disorders (CTDs) such as Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS), especially in those with a non-dilated aortic root (AoR). This study evaluated the aortic elasticity properties of pediatric MFS and LDS patients with either dilated or non-dilated AoR.Methods and Results:The 31 children with MFS or LDS were classified into dilated (Z score of AoR diameter ≥2.5; n=17) or non-dilated (Z score of AoR diameter <2.5; n=14) AoR groups and compared with controls. Using transthoracic echocardiography, we analyzed the aortic elasticity parameters of distensibility, strain, and stiffness index at the levels of the AoR, sinotubular junction, ascending aorta, and descending aorta. Aortic distensibility and strain were significantly lower in both test groups than in controls at the AoR level. The Z score of AoR diameter significantly correlated with aortic distensibility (R=–0.63, P<0.001), strain (R=–0.54, P=0.002), and stiffness index (R=0.52, P=0.002) in the patients’ groups. Multivariate analysis revealed that aortic distensibility and the type of CTD were independently associated with AoR dilatation.Conclusions:Aortic elasticity at the level of the AoR may be decreased in children with MFS or LDS even before AoR dilatation progresses. Less aortic distensibility and CTD type are considered important parameters in estimating AoR dilatation in these patients.