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| 1 | Primary 4-3-oxosteroid 5β-reductase deficiency:Two cases in China显示文摘Aldo-keto reductase 1D1(AKR1D1) deficiency,a rare but life-threatening form of bile acid deficiency,has not been previously described in China.Here,we describe the first two primary 4-3-oxosteroid 5β-reductase deficiency patients in China's Mainland diagnosed by fast atom bombardment-mass spectroscopy of urinary bile acids and confirmed by genetic analysis.A high proportion of atypical 3-oxo-4-bile acids in the urine indicated a deficiency in 4-3-oxosteroid 5β-reductase.All of the coding exons and adjacent intronic sequence of the AKR1D1 gene were sequenced using peripheral lymphocyte genomic DNA of two patients and one of the patient's parents.One patient exhibited compound heterozygous mutations:c.396C>A and c.722A>T,while the other was heterozygous for the mutation c.797G>A.Based on these mutations,a diagnosis of primary 4-3-oxosteroid 5β-reductase deficiency could be confirmed.With ursodeoxycholic acid treatment and fat-soluble vitamin supplements,liver function tests normalized rapidly,and the degree of hepatomegaly was markedly reduced in both patients. | Jing Zhao Ling-Juan Fang Kenneth DR Setchell Rui Chen Li-Ting Li Jian-She Wang | 2012 | World Journal of Gastroenterology2012，18，47： | 9 |
| 2 | Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes显示文摘BACKGROUND Disorders of primary bile acid synthesis may be life-threatening if undiagnosed,or not treated with primary bile acid replacement therapy. To date, there are few reports on the management and follow-up of patients with Δ4-3-oxosteroid 5β-reductase(AKR1 D1) deficiency. We hypothesized that a retrospective analysis of the responses to oral bile acid replacement therapy with chenodeoxycholic acid(CDCA) in patients with this bile acid synthesis disorder will increase our understanding of the disease progression and permit evaluation of this treatment regimen as an alternative to the Food and Drug Administration(FDA) approved drug cholic acid, which is currently unavailable in China.AIM To evaluate the therapeutic responses of patients with AKR1 D1 deficiency to oral bile acid therapy, specifically CDCA.METHODS Twelve patients with AKR1 D1 deficiency, confirmed by fast atom bombardment ionization-mass spectrometry analysis of urine and by gene sequencing for mutations in AKR1 D1, were treated with differing doses of CDCA or ursodeoxycholic acid(UDCA). The clinical and biochemical responses to therapy were monitored over a period ranging 0.5-6.4 years. Dose adjustment, to optimize the therapeutic dose, was based on changes in serum biochemistry parameters,notably liver function tests, and suppression of the urinary levels of atypical hepatotoxic 3-oxo-Δ4-bile acids measured by mass spectrometry.RESULTS Physical examination, serum biochemistry parameters, and sonographic findings improved in all 12 patients during bile acid therapy, except one who underwent liver transplantation. Urine bile acid analysis confirmed a significant reduction in atypical hepatotoxic 3-oxo-Δ4 bile acids concomitant with clinical and biochemical improvements in those patients treated with CDCA. UDCA was ineffective in down-regulating endogenous bile acid synthesis as evidenced from the inability to suppress the urinary excretion of atypical 3-oxo-Δ4-bile acids. The dose of CDCA required for optimal clinical and biochemical responses varied from 5.5-10 mg/kg per day among patients based on maximum suppression of the atypical bile acids and improvement in serum biochemistry parameters, and careful titration of the dose was necessary to avoid side effects from CDCA.CONCLUSION The primary bile acid CDCA is effective in treating AKR1 D1 deficiency but the therapeutic dose requires individualized optimization. UDCA is not recommended for long-term management. | Mei-Hong Zhang Kenneth DR Setchell Jing Zhao Jing-Yu Gong Yi Lu Jian-She Wang | 2019 | World Journal of Gastroenterology2019，25，7： | 7 |
| 3 | 世界家庭医生组织(WONCA)研究论文摘要汇编——全科医生对膝骨性关节炎新型全科管理模式的态度:一项定性研究显示文摘背景当前,有效管理膝骨性关节炎患者需要新型的服务模式,而新型模式能否成功实施离不开全科医生的参与。本项定性研究的目的在于调查哪些因素影响了全科医生参与一种新型的旨在为膝骨性关节炎患者提供循证护理并改善其预后的服务模式的实施。方法共有11位全科医生参加了本项半结构式电话访谈。基于行为理论模型,访谈内容均是关于对采用远程指导[电话指导(主要关于运动和减肥方面)]膝骨性关节炎患者改变自身行为和进行自我管理的看法。每场访谈均录音、记录,并按照APEASE标准(可承受性、可行性、有效性、接受度、安全性/不良反应和公平性)进行分析。结果影响全科医生参与电话指导服务的因素有:全科医生对电话指导表示困惑(由于其对此服务相关知识的了解与本研究提供给患者的建议不一致);电话指导与其他服务方案和举措不相关;无法掌控患者对电话指导的执行情况;不相信患者有此需求以及推荐的服务能带来的益处;由于对流程和内容不熟悉而拒绝参与电话指导;不相信自己有技术与能力提供该服务。另外,全科医生认识到对患者给予额外的支持可能会带来益处,也认识到电话指导能使偏远地区的患者享受到临床医生的专业服务。结论本研究为促进全科医生参与并实施远程医疗服务提供了借鉴。 | EGERTON T NELLIGAN R SETCHELL J 本刊编辑部 | 2017 | 中国全科医学2017，20，35： | 4 |
| 4 | Whole-body heat exposure induces membrane changes in spermatozoa from the cauda epididymidis of laboratory mice显示文摘这研究被执行决定到热环境温度的暴露是否在精子质量上有直接、有害效果。为这,实验室老鼠的 epididymal 精子上的整个身体的热暴露的效果被调查。C57BL/6 鼠标(n = 7 ) 是在在 37 掳 C 鈥 ? 的一个小气候房间的 housed 为 8 h 的 8 掳 C 每为三连续的天的天,当时控制鼠标(n = 7 ) 在 23 掳 C 被保留鈥 ? 4 掳 C。尾 epididymal 精子被获得在最后热处理以后的 16 h。结果证明精子号码在二个组是类似的(P = 0.23 ) ,但是在热处理以后,在能动精子的百分比的重要减小是在场的(P < 0.0001 ) 。精子的膜变化被与结合的藻红朊(PE ) 染色 Annexin V 调查,它检测 phosphotidylserine 的 exteriorization 从对精子血浆膜,和 7-aminoactinomycin D (7-AAD ) 的外部传单内部,当血浆膜被损坏时,它绑在精子原子核。显示出与 Annexin V 鈥揚E 或 7-AAD 或两个的积极染色的精子的百分比,显著地更高(P < 0.05 ) 在暴露热的老鼠与控制相比。这些结果显示出那整个身体的热暴露到 8 掳 C 导致的 37 掳 C 鈥 ? 膜在老鼠的 epididymal 精子变化,它可以导致 apoptosis。 | Harsha Wechalekar Brian P. Setchell Eleanor J. Peirce Mario Ricci Chris Leigh William G. Breed | 2010 | Asian Journal of Andrology2010，12，4： | 4 |
| 5 | Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature显示文摘Steroid 5β-reductase [aldo-keto reductase family 1 member D1(AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this disease. We describe an infant who presented with hyperbilirubinemia and coagulopathy but normal bile acid and γ-glutamyltransferase. Gene analysis was performed using genomic DNA from peripheral lymphocytes from the patient, his parents, and his elder brother. The patient was compound heterozygous for c.919C>T in exon 8 and exhibited a loss of heterozygosity of the AKR1D1 gene, which led to an amino acid substitution of arginine by cysteine at amino acid position 307(p.R307C). Based on these mutations, the patient was confirmed to have primary 5β-reductase deficiency. Ursodeoxycholic acid(UDCA) treatment did not have any effect on the patient. However, when we changed to chenodeoxycholic acid(CDCA) treatment, his symptoms and laboratory tests gradually improved. It is therefore crucial to supplement with an adequate dose of CDCA early to improve clinical symptoms and to normalize laboratory tests. | Hui-Hui Wang Fei-Qiu Wen Dong-Ling Dai Jian-She Wang Jing Zhao Kenneth DR Setchell Li-Na Shi Shao-Ming Zhou Si-Xi Liu Qing-Hua Yang | 2018 | World Journal of Gastroenterology2018，24，35： | 3 |
| 6 | Innovation Portfolio Management for Small-medium Enterprises显示文摘For small and medium sized enterprises,portfolio management can be a difficult exercise;especially when the available paths forwards are shrouded in mystery.To overcome this,they are required to research and decide upon the path to follow,but this can be difficult when the information to gather is unclear,leading to ad-hoc processes and inconsistency.The motivation for this project originated from a small and medium sized enterprise experiencing this problem of unknown critical information and a technological portfolio with significant potential.With no procedure or method in place,they conducted the research in an ad-hoc way resulting in uncertainty and low repeatability of decisions.To tackle this problem,innovation structuring frameworks were synthesised with appropriate risks and context to pose a new structure for information capture.The resulting structure was tested within the small and medium sized enterprise to investigate the repeatability of the information capture and the subsequent ranking.The proposed structure was also analysed by-process experts for its wider applicability.For the small and medium sized enterprise,this led to a consistent and repeatable method that delivered increased confidence about selecting a path forwards for its portfolio.In addition,it was found to be applicable to external organisations increasing the moders worth and applicability.The implications of this work have led to a change in the operational procedure of the small and medium sized enterprise to utilise the defined process for researching new ideas for their portfolio which can lead to repeatable and trustworthy decisions.This also has applicability to other similar companies and could lead them through a repeatable process as presented here. | Daniel Pashley Theo Tryfonas Andy Crossley Chris Setchell Stylianos Karatzas | 2020 | Journal of Systems Science and Systems Engineering2020，29，5： | 2 |
| 7 | Influence of marginal configuration and porcelain addition on the fit of In-Ceram crowns显示文摘 | Shearer B Gough MB Setchell DJ | | 0，，： | 2 |
| 8 | Genistein, daidzein and their β - glycoside conjugates: antitumor isoflavones in soy- bean foods from American and Asian diets 显示文摘 | Coward L Banes N C Setchell K D R | 1993 | J Agric Food Chem1993，41，： | 1 |
| 9 | Phytoestrogens:the biochemistry, physiology,and implications for human health of soy isoflavones显示文摘 | Setchell K | 1998 | Am J Clin Nutr1998，，： | 1 |
| 10 | Neurobehavioral effects of dietary soy phytoestrogens显示文摘 | Lephart ED West TW Weber KS Rhees RW Setchell KD Adlercreate EH | 2002 | Neurotoxicol Teratol2002，24，： | 1 |
| 11 | Dietary isoflavones:biological effects and relevance to human health显示文摘 | Setchell KD Cassidy A | 1999 | J Nutr1999，129，3： | 1 |
| 12 | Production and metabolism of lignans by the human faecal flora显示文摘 | BLORRIELLO S P SETCHELL K D AXELSON M | 1985 | Journal of Applied Bacteriology1985，58，1： | 1 |
| 13 | The pharmacokinetic behavior of the soy isoflavone metabolite S-(-) equol and its diastereoisomer R-( + )equol in healthy adults determined by using stable-isotope-labeled tracers^1-4 显示文摘 | SETCHELL K D R ZHAO Xueheng PINKY J H A | 2009 | Am J Clin Nutr2009，90，： | 1 |
| 14 | The role of vaginal scan in measurement of endometrial thickness in postmenopausal women显示文摘 | Nasri MN Shephard JH Setchell ME | 1991 | Br J Obstet Gymaecol1991，98，5： | 1 |
| 15 | Bioavailability of pure isoflavones in healthy humans and analysis of commercial soy isoflavone supplements显示文摘 | SETCHELL K D R BROWN N M DESAI P | 2001 | J Nutr2001，131，4： | 1 |
| 16 | The rode of vaginal scan in maeasuvement of endometrial thichness in post menopausal women显示文摘 | Nasri MN shepherd JH setchell ME | 1991 | Br j Obstet Gynecol1991，98，： | 1 |
| 17 | Prevalence of and factors affecting post-obturation pain in patients undergoing root canal treatment 显示文摘 | Ng Y L Glennon J P Setchell D J | 2004 | Int Endod J2004，37，6： | 1 |
| 18 | Steroid excretion during the reproductive cycle and pregnancy of the vervetmonkey显示文摘 | Setchell K D R Bull R Adlercreutz H | 1980 | Journal of Steroidbiochemistry1980，12，： | 1 |
| 19 | Dietary phytoestrogens and their effect on bone: evidence from in vitro and in vivo, human observational, and dietary intervention studies 显示文摘 | Setchell KD Lydcking-Olsen E | 2003 | Am] Clin Nutr2003，78，3： | 1 |
| 20 | The pharmacokinetics of S-(-) equol administered as SE5-OH tablets to healthy postmenopausal women 显示文摘 | SETCHELL K D R ZHAO Xueheng SUSAN E | 2009 | J Nutr2009，139，： | 1 |
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