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581.
A Taylor D Wang K Patel R Whittall G Wood M Farrer RDG Neely S Fairgrieve D Nair M Barbir JL Jones S Egan R Everdale Y Lolin E Hughes JA Cooper SG Hadfield G Norbury SE Humphries 《Clinical genetics》2010,77(6):572-580
Taylor A, Wang D, Patel K, Whittall R, Wood G, Farrer M, Neely RDG, Fairgrieve S, Nair D, Barbir M, Jones JL, Egan S, Everdale R, Lolin Y, Hughes E, Cooper JA, Hadfield SG, Norbury G, Humphries SE. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project. Cascade testing using DNA‐mutation information is now recommended in the UK for patients with familial hypercholesterolaemia (FH). We compared the detection rate and mutation spectrum in FH patients with a clinical diagnosis of definite (DFH) and possible (PFH) FH. Six hundred and thirty‐five probands from six UK centres were tested for 18 low‐density lipoprotein receptor gene (LDLR) mutations, APOB p.Arg3527Gln and PCSK9 p.Asp374Tyr using a commercial amplification refractory mutation system (ARMS) kit. Samples with no mutation detected were screened in all exons by single strand conformation polymorphism analysis (SSCP)/denaturing high performance liquid chromatography electrophoresis (dHPLC)/direct‐sequencing, followed by multiplex ligation‐dependent probe amplification (MLPA) to detect deletions and duplications in LDLR.The detection rate was significantly higher in the 190 DFH patients compared to the 394 PFH patients (56.3% and 28.4%, p > 0.00001). Fifty‐one patients had inadequate information to determine PFH/DFH status, and in this group the detection rate was similar to the PFH group (25.5%, p = 0.63 vs PFH). Overall, 232 patients had detected mutations (107 different; 6.9% not previously reported). The ARMS kit detected 100 (44%) and the MLPA kit 11 (4.7%). Twenty‐eight (12%) of the patients had the APOB p.Arg3527Gln and four (1.7%) had the PCSK9 p.Asp374Tyr mutation. Of the 296 relatives tested from 100 families, a mutation was identified in 56.1%. In 31 patients of Indian/Asian origin 10 mutations (two previously unreported) were identified. The utility of the ARMS kit was confirmed, but sequencing is still required in a comprehensive diagnostic service for FH. Even in subjects with a low clinical suspicion of FH, and in those of Indian origin, mutation testing has an acceptable detection rate. 相似文献
582.
SE Lamb J Pepper R Lall EC J?rstad-Stein MD Clark L Hill J Fereday-Smith 《BMC women's health》2009,9(1):26
Background
The aim was to compare effectiveness of group versus individual sessions of physiotherapy in terms of symptoms, quality of life, and costs, and to investigate the effect of patient preference on uptake and outcome of treatment. 相似文献583.
The expression of CYP1B1 in human mammary fibroblasts (HMFs) was
characterized as a potential modulator of their individual function as well
as effects on adjacent mammary epithelia. We have used these
characteristics to explore the diversity of fibroblast cells isolated from
reduction mammoplasty patients and from different breast locations in
breast cancer patients (tumors, peripheral to tumor and skin). These
parameters have also been used to examine differences between two donors.
The results have shown that while none of these HMFs expressed a detectable
CYP1A1 protein basally or in response to TCDD, they all expressed CYP1B1
constitutively at similar levels (0.5-0.9 pmol/mg microsomal proteins) and
they were induced by TCDD (up to 5-fold) consistent with mediation by the
Ah receptor (AhR). DMBA metabolism by HMFs exhibited high proportions of
5,6-, 10,11- and 3,4-dihydrodiols, a profile that is typical of human
CYP1B1 regioselectivity. RT-PCR followed by Southern blot analyses
demonstrated that CYP1B1 mRNA expression in HMFs parallels levels of
respective microsomal proteins. The AhR is expressed in these HMFs as two
cytosolic forms (approximately 106 and 104 kDa) and a substantial
proportion of the 104 kDa form was localized to the nucleus even prior to
TCDD treatment. In all HMFs isolated directly from collagenase digested
breast tissues the AhR is expressed at levels 10-fold lower than in breast
epithelial cells. However, HMFs that were isolated after serial passaging
of mammary epithelial cultures had shown much higher levels of the AhR
expression and more dramatic TCDD-induced down-regulation (>80% in 24 h)
associated with more efficient nuclear translocation. These differences
suggested the presence of two functionally distinct subtypes of HMFs:
interstitial stromal fibroblasts that are readily released by collagenase
digestion of breast tissues, and lobular stromal fibroblasts which are more
tightly associated with the breast epithelia.
相似文献
584.
Oral Diseases (2010) 16 , 709–716 Although advances in surgical techniques and bone grafting have significantly improved the functional and cosmetic restoration of craniofacial structures lost because of trauma or disease, there are still significant limitations in our ability to regenerate these tissues. The regeneration of oral and craniofacial tissues presents a formidable challenge that requires synthesis of basic science, clinical science, and engineering technology. Tissue engineering is an interdisciplinary field of study that addresses this challenge by applying the principles of engineering to biology and medicine toward the development of biological substitutes that restore, maintain, and improve normal function. This review will explore the impact of biomaterials design, stem cell biology and gene therapy on craniofacial tissue engineering. 相似文献
585.
目的 观察散偏汤联合针刺治疗偏头痛的临床疗效.方法 选取2019年8月至2020年11月沈阳市中医院收治的100例偏头痛患者作为为研究对象,根据随机数字表分为观察组与对照组,每组各50例,对照组采用口服盐酸氟桂利嗪胶囊进行治疗,观察组采用针刺联合口服散偏汤治疗,4周为1个疗程,治疗1个疗程后,比较两组视觉模拟量表(VA... 相似文献