Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world,multi-center,cohort study

BackgroundThere is a lack of large-scale data on the clinical and genotype characteristics of homozygous familial hypercholesterolemia (HoFH) patients in Asia.ObjectiveTo define the characteristics of phenotypic and genetic HoFH probands from mainland China.MethodsWe collected data from patients with suspected HoFH from ten clinical hospitals across mainland China from 2003 to 2019. Clinical data and DNA testing were obtained in all patients. The Kaplan-Meier method was used to generate survival curves, and the groups were compared with the log-rank test.ResultsA total of 108 unrelated probands with suspected HoFH (mean age 14.9 years) were included. The three most common variants were W483X (c.1448 G>A), A627T (c.1879 G>A), H583Y (c.1747 C>T). The majority (64.8%) were compound heterozygotes (n = 70), 23 (21.3%) were true HoFH patients. True HoFH showed higher LDL-C levels compared to compound HoFH (16.8±3.6 mmol/L vs. 15.0±3.1 mmol/L, P = 0.022). During follow-up, only 21.2% patients exhibited an LDL-C reduction of more than 50%. Kaplan-Meier analysis showed that the true HoFH probands had significantly worse survival rates compared to other genotype probands (13-year survival; 20.3% vs. 76.7%, respectively; P = 0.016). In addition, true HoFH shows that 2.8-fold (P = 0.022) increase any death and 3.0-fold (P = 0.023) increase cardiovascular death risk in relative to other FH.ConclusionsThis report shows that HoFH has devastating consequences, and that patients are often only diagnosed after they have been exposed to severely elevated LDL-C for years. Systematic screening and early intensive treatment are an absolute requirement for these young individuals with HoFH.     

临床药师对高血压患者的药学服务及效果比较

目的：探讨临床药师为高血压患者提供药学服务的效果和意义。 方法：100例依从性差、血压控制不佳的高血压病患者随机分为干预组和对照组各50例。临床药师通过问卷调查了解患者高血压用药知识和潜在问题,对干预组患者实施个体化药学服务,对照组不予以干预,并分别在干预前和干预后3个月对患者的治疗结果、用药依从性、用药知识等进行随访研究。结果：干预组患者的用药依从性、血压控制情况等较对照组有明显改善,高血压用药知识水平也较对照组有明显提高。结论：临床药师通过面向高血压患者的药学服务可及时发现和解决患者治疗过程中的潜在问题,有助于提高患者的治疗效果、治疗依从性和用药知识水平,避免严重药物不良反应的发生。     

The serological diagnosis of human clonorchiasis by time-resolved fluoroimmunoassay based on GST2-specific IgG4 detection

Due to its delayed fluorescence of a lanthanide chelate, high accuracy and low background the broad linear range, long fluorescent life-time and large Stoke's shift of europium chelates, the time-resolved fluorescence has been developed for higher sensitive immunoassay. In this article, a simple, sensitive and specific method-time-resolved fluoroimmunoassay (TRFIA) was adopted for immunoassay of clonorchiasis, and recombinant glutathione transferases 2 of Clonorchis sinensis (rCsGST2) was used as a diagnostic antigen. To evaluate this novel assay for clinical applications, 409 serum samples were investigated. The diagnostic accuracy of the antigen was evaluated by receiver-operating characteristic (ROC) analysis. The area under the ROC curve (AUC) was 0.965, 95 % confidence interval (CI, 0.946, 0.985). To eliminate the random influence of ambient temperature, test parameters, photometric instruments and so on, the cut-off value was expressed as ratios between the fluorescence of sample and that of a well-defined negative control serum, and the deduced cut-off value was 9.3605. At the optimum cut-off criteria, the technique has a sensitivity of 95.80 %, specificity of 93.60 %. And the cross reactivity revealed that its cross reactivity with Schistosoma japonicum, round worm, hook worm, whip worm, and Toxoplasma gondii was 9.3, 8.3, 7.6, 9.8, and 5.0 %, respectively. Kappa score of agreement between TRFIA and microscopic examination of stools was 0.892, P?<?0.05. These combined results showed that our method is feasible and could be used for the clinical determination of clonorchiasis.     

交叉专科护理在颧骨复合体骨折患者中的应用分析

目的:分析交叉专科护理在颧骨复合体骨折患者治疗中的作用价值,为后续临床护理提供方法参考.方法:25例颧骨复合体骨折患者于2017年1月-2019年1月期间在我科室接受治疗,患者围术期均采取眼科及口科的交叉专科护理,分析护理效果.结果:25例患者术后颜面情况恢复良好,术后并发症较少;随访6个月后患者眼球内陷等状况改善,咬合状况良好.结论:颧骨复合体骨折临床治疗中采取交叉专科治疗可明显提高治疗效果,降低术后并发症发生率,具有临床推广价值.     

The Fate of the Remaining Knee(s) or Hip(s) in Osteoarthritic Patients Undergoing a Primary TKA or THA

The purpose of this study was to determine the fate of the remaining hip(s) and knee(s) following an initial total hip or knee arthroplasty in 5352 patients with idiopathic osteoarthritis who were followed for a minimum ten years (mean 17.8 ± 5.7 years). Following an initial primary TKA, 46.0% of patients had a contralateral TKA, 2.3% had an ipsilateral THA and 1.3% had a contralateral THA. Following an initial primary THA, 30.5% of patients had a contralateral THA, 6.8% had an ipsilateral TKA and 2.9% had a contralateral TKA. Cox regression analysis demonstrated that BMI was the sole risk factor for a second THA, but both age less than sixty years and a higher BMI were significant factors for patients requiring an additional primary TKA.     

Influence of maternal and paternal IQ on offspring health and health behaviours: Evidence for some trans-generational associations using the 1958 British birth cohort study

PurposeIndividuals scoring poorly on tests of intelligence (IQ) have been reported as having increased risk of morbidity, premature mortality, and risk factors such as obesity, high blood pressure, poor diet, alcohol and cigarette consumption. Very little is known about the impact of parental IQ on the health and health behaviours of their offspring.MethodsWe explored associations of maternal and paternal IQ scores with offspring television viewing, injuries, hospitalisations, long standing illness, height and BMI at ages 4 to 18 using data from the National Child Development Study (1958 birth cohort).ResultsData were available for 1446 mother-offspring and 822 father-offspring pairs. After adjusting for potential confounding/mediating factors, the children of higher IQ parents were less likely to watch TV (odds ratio (95% confidence interval) for watching 3+ vs. less than 3 hours per week associated with a standard deviation increase in maternal or paternal IQ: 0.75 (0.64, 0.88) or 0.78 (0.64, 0.95) respectively) and less likely to have one or more injuries requiring hospitalisation (0.77 (0.66, 0.90) or 0.72 (0.56, 0.91) respectively for maternal or paternal IQ).ConclusionsChildren whose parents have low IQ scores may have poorer selected health and health behaviours. Health education might usefully be targeted at these families.     

富血小板血浆联合关节镜治疗中老年半月板损伤的初步临床疗效

目的:探讨中老年半月板损伤患者应用富血小板血浆联合关节镜治疗的效果及安全性。方法:选取2019年1月-2019年10月我院收治的膝关节半月板损伤患者76例,随机分为对照组和观察组;每组38例,对照组行关节镜手术治疗,观察组手术后于关节腔内注射富血小板血浆。治疗后12个月评定2组治疗效果;分别于治疗前、治疗后3.6、12个月应用视觉模拟评分(Visual analogue scales,VAS)评估膝关节疼痛程度,应用Lysholm膝关节评分评估膝关节功能;记录2组并发症发生情况。结果:治疗后12个月,观察组总有效率为97.36%,高于对照组的81.59%,差异有统计学意义(P<0.05);所有患者治疗后3.6、12个月时VAS评分和Lysholm评分均较治疗前有明显改善,差异均有统计学意义(P<0.05),观察组治疗后VAS评分和Lysholm评分较对照组改善更显著,2组间比较,差异均有统计学意义(P<0.05)。所有患者均无关节内感染、深静脉血栓形成等严重并发症发生,差异均无统计学意义(P>0.05)。结论:中老年半月板损伤患者关节镜术后应用富血小板血浆治疗,可明显减轻疼痛,改善膝关节功能,且对患者的创伤性较小,不增加术后并发症,安全性高,值得临床推广应用。