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31.
32.
We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14‐year‐old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations. 相似文献
33.
Autoimmune comorbid diseases associated with lichen planus: a nationwide case–control study 下载免费PDF全文
34.
Loss‐of‐function mutations in the gene encoding filaggrin underlie a Japanese family with food‐dependent exercise‐induced anaphylaxis 下载免费PDF全文
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Y.R. Song B. Wu Y.T. Yang J. Chen L.J. Zhang Z.W. Zhang H.Y. Shi C.L. Huang J.X. Pan P. Xie 《Brazilian journal of medical and biological research》2015,48(11):973-982
Bipolar disorder (BD) is a common psychiatric mood disorder affecting more than 1-2%
of the general population of different European countries. Unfortunately, there is no
objective laboratory-based test to aid BD diagnosis or monitor its progression, and
little is known about the molecular basis of BD. Here, we performed a comparative
proteomic study to identify differentially expressed plasma proteins in various BD
mood states (depressed BD, manic BD, and euthymic BD) relative to healthy controls. A
total of 10 euthymic BD, 20 depressed BD, 15 manic BD, and 20 demographically matched
healthy control subjects were recruited. Seven high-abundance proteins were
immunodepleted in plasma samples from the 4 experimental groups, which were then
subjected to proteome-wide expression profiling by two-dimensional electrophoresis
and matrix-assisted laser desorption/ionization-time-of-flight/time-of-flight tandem
mass spectrometry. Proteomic results were validated by immunoblotting and
bioinformatically analyzed using MetaCore. From a total of 32 proteins identified
with 1.5-fold changes in expression compared with healthy controls, 16 proteins were
perturbed in BD independent of mood state, while 16 proteins were specifically
associated with particular BD mood states. Two mood-independent differential
proteins, apolipoprotein (Apo) A1 and Apo L1, suggest that BD pathophysiology may be
associated with early perturbations in lipid metabolism. Moreover, down-regulation of
one mood-dependent protein, carbonic anhydrase 1 (CA-1), suggests it may be involved
in the pathophysiology of depressive episodes in BD. Thus, BD pathophysiology may be
associated with early perturbations in lipid metabolism that are independent of mood
state, while CA-1 may be involved in the pathophysiology of depressive episodes. 相似文献
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Shasha Yuan Fang Wang Yan Zhao Yun Liu 《The International journal of health planning and management》2020,35(1):e196-e209
Since the new round of health care reform in 2009, the vertical integration of hospitals and primary health institutions has become widely implemented in China as an efficient method for improving quality of primary care. This study aimed to answer the following questions: (a) What is the perceived quality of township health centres (THCs) under integration? (B) What differences could be observed among the three typical integration models, namely, private hospital-THC integration, public hospital-THC integration, and loose collaboration? Two rounds of cross-sectional surveys were conducted from November 2016 to June 2018. The Chinese version of the Primary Care Assessment Tool was used to evaluate perceived quality of sample THCs, and 1118 adult patients were interviewed in total. Multiple linear regressions were employed to compare the quality scores between two survey rounds and among different integration models after controlling for potential confounders. The results revealed that the quality of care significantly improved under private hospital-THC integration as observed by comparing two survey rounds, while no change or slight changes were observed in the other two models. The difference observed among the three models was that the perceived quality of THCs integrated with private hospitals was worse than that of THCs integrated with public hospitals and THCs under loose collaboration, while no significant difference was observed between public hospital-THC integration and loose collaboration. Increased attention should be given to highlighting the tight integration between hospitals and THCs and the different roles played by private and public hospitals in the current reform. 相似文献
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目的:探究翁连解毒汤治疗浊毒内蕴型溃疡性结肠炎(Ulcerative Colitis,UC)临床疗效及可能的作用机制。方法:选取2016年2月至2018年12月在攀枝花学院附属医院收治的浊毒内蕴型UC患者130例作为研究对象,按照入院先后顺序分为对照组和观察组,每组65例。对照组常规西医治疗,观察组加用翁连解毒汤,观察2组治疗前、完成治疗后T细胞、NK细胞、炎性反应因子、凝血功能、生命质量变化,完成治疗后总结疗效。结果:观察组患者在NK细胞、T淋巴细胞组成、CR、TNF-α、IL-1 β、ESR、内毒素、IL-10、FIB、PLT、APTT改善方面的效果较对照组更优,组间差异有统计学意义(P<0.05)。观察组患者完成治疗后的生命质量量表各维度评分及总评分改善效果优于对照组患者(P<0.05),且临床总有效率和组织病理学疗效率均高于对照组患者(P<0.05)。结论:翁连解毒汤能抑制浊毒内蕴型UC炎性反应,改善高凝状态,提高机体免疫功能,从而提高疗效和生命质量。 相似文献