Management guideline for Werner syndrome 2020. 4. Osteoporosis associated with Werner syndrome
Management guideline for Werner syndrome 2020. 4. Osteoporosis associated with Werner syndrome
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2020年沃纳综合征管理指南。 4. 与沃纳综合征相关的骨质疏松症
DOI：
10.1111/ggi.14078
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发表时间：
2020
影响因子：
3.3
通讯作者：
Yokote Koutaro
中科院分区：
文献类型：
--
作者：
Mori Seijiro;Takemoto Minoru;Kubota Yoshitaka;Taniguchi Toshibumi;Motegi Sei‐ichiro;Taniguchi Akira;Nakagami Hironori;Maezawa Yoshiro;Koshizaka Masaya;Kato Hisaya;Tsukamoto Kazuhisa;Kuzuya Masafumi;Yokote Koutaro
根据Murata和Nakashima总结24例Werner综合征患者临床特征的报告，1 24例患者中有9例X线片显示骨质疏松。虽然骨质疏松症在年轻患者中相对罕见，但几乎所有40岁以上的患者都发生骨质疏松症，其程度在下肢更为严重。他们对日本医学文献的回顾显示，在日本报道的153例Werner综合征患者中，41%发生骨质疏松症，因为Murata和Nakashima的上述报告是在骨密度测定之前作出的（使用双能X射线吸收测定法）已经普及，目前尚不清楚Werner综合征患者的骨质疏松症发病率是否与原发性骨质疏松症的现行诊断标准相同2。与以前的研究报告中所报道的一样高。因此，我们对10名到千叶大学医院就诊的Werner综合征患者进行了更详细的骨质疏松症评估。3如表1所示，患者包括5名男性和5名女性。通过使用从外周血白细胞提取的DNA以及特征性临床体征进行基因检测来诊断Werner综合征（表1）。骨密度测定采用双功能
According to a report summarizing clinical characteristics of 24 patients with Werner syndrome by Murata and Nakashima, 1 the radiographs showed osteoporosis in nine of 24 patients. Although osteoporosis was relatively rare in younger patients, almost all patients at least 40 years of age developed osteoporosis, with its degree being more severe in the lower extremities. Their review of the Japanese medical literature revealed that osteoporosis occurred in 41% of 153 patients with Werner syndrome reported in Japan.As the above report by Murata and Nakashima was made before bone densitometry (using dual energy X-ray absorptiometry) had become generalized, it was unclear whether the incidence of osteoporosis in patients with Werner syndrome using the current diagnostic criteria for primary osteoporosis2 was as high as that reported in previous studies. Therefore, a more detailed assessment of osteoporosis was made in 10 patients with Werner syndrome visiting Chiba University Hospital. 3 As shown in Table 1, the patients consisted of five men and five women. Werner syndrome was diagnosed by genetic testing using DNAs extracted from peripheral blood leukocyte as well as the characteristic clinical signs (Table 1). Bone density was measured by dual
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Werner 基因座的多态性： I. 新发现的多态性、1367Cys/Arg 的种族变异及其在芬兰百岁老人群体中的稳定性。
DOI：
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发表时间：
1999
期刊：
American journal of medical genetics.
影响因子：
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作者：
Castro,E;Ogburn,CE;Hunt,KE;Tilvis,R;Louhija,J;Penttinen,R;Erkkola,R;Panduro,A;Riestra,R;Piussan,C;Deeb,SS;Wang,L;Edland,SD;Martin,GM;Oshima,J
通讯作者：
Oshima,J
影响因子：
3.3
作者：
Soen, Satoshi;Fukunaga, Masao;Tomomitsu, Tatsushi
通讯作者：
Tomomitsu, Tatsushi
Naoshi Ogata、Masataka Shiraki、Takayuki Hosoi、Yu Koshizuka、Kozo Nakamura、Hiroshi Kawaguchi：“Werner 解旋酶 (wrn) 基因的多态性变异与绝经后女性的骨密度有关，但与脊椎病无关”J Bone Miner Metab。
DOI：
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发表时间：
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影响因子：
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作者：
通讯作者：
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沃纳氏综合症：日本医学文献二十四例回顾
影响因子：
6.3
作者：
K. Murata;H. Nakashima
通讯作者：
H. Nakashima