利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

Assessing perceived quality of primary care under hospital-township health centre integration: A cross-sectional study in China

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.     

Relationship between EMG-detected and ultrasound-detected fasciculations in amyotrophic lateral sclerosis: A prospective cohort study

ObjectivesFasciculation potentials (FP) are an important consideration in the electrophysiological diagnosis of ALS. Muscle ultrasonography (MUS) has a higher sensitivity in detecting fasciculations than electromyography (EMG), while in some cases, it is unable to detect EMG-detected fasciculations. We aimed to investigate the differences of FP between the muscles with and without MUS-detected fasciculations (MUS-fas).MethodsThirty-one consecutive patients with sporadic ALS were prospectively recruited and in those, both needle EMG and MUS were performed. Analyses of the amplitude, duration, and number of phases of EMG-detected FPs were performed for seven muscles per patient, and results were compared between the muscles with and without MUS-fas in the total cohort.ResultsThe mean amplitude and phase number of FP were significantly lower in patients with EMG-detected FP alone (0.39 ± 0.25 mV and 3.21 ± 0.88, respectively) than in those with both FP and MUS-fas (1.22 ± 0.92 mV and 3.74 ± 1.39, respectively; p < 0.0001 and p = 0.017, Welch’s t-test).ConclusionSmall FP may be undetectable with MUS. MUS cannot replace EMG in the diagnostic approach for ALS.SignificanceClinicians should use a combination of EMG and MUS for the detection and quantitative analysis of fasciculation in ALS.     

新生儿医用粘胶相关皮肤损伤危险因素分析及其护理对策

目的探讨新生儿医用粘胶相关性皮肤损伤(MARSI)危险因素和护理对策。方法选取2016年4月至2018年5月在本院接受治疗的新生儿483例为研究对象,统计其发生MARSI例数和损伤类型,依据是否发生MARSI将患儿分成MARSI组61例和未发生MARSI组422例,记录患儿温箱、胎龄、抢救台、出生体质量、潮湿多汗、蓝光治疗、感染、留置胃管、禁食、经外周静脉置入中心静脉导管(PICC)、水肿及皮肤干燥情况,对影响患儿发生MARSI的因素进行多因素logistic回归分析。结果患儿皮肤受损类型依次为表皮剥脱伤(6.21%)、皮肤撕裂伤(3.73%)、接触性皮炎1.45%。蓝光治疗、留置胃管、出生体质量<2200 g、胎龄<30周及皮肤干燥为患儿发生MARSI的独立危险因素(P<0.05)。结论临床新生儿MARSI发生率较高,且影响因素多,医护人员应采用有针对性护理措施,加强防范,以降低新生儿MARSI的发生率。     

Fragmentation of care as a barrier to optimal ESKD management

Caring for patients with end-stage kidney disease (ESKD) in the United States is challenging, due in part to the complex epidemiology of the disease's progression as well as the ways in which care is delivered. As CKD progresses toward ESKD, the number of comorbidities increases and care involves multiple healthcare providers from multiple subspecialties. This occurs in the context of a fragmented US healthcare delivery system that is traditionally siloed by provider specialty, organization, as well as systems of payment and administration. This article describes the role of care fragmentation in the delivery of optimal ESKD care and identifies research gaps in the evidence across the continuum of care. We then consider the impact of care fragmentation on ESKD care from the patient and health system perspectives and explore opportunities for system-level interventions aimed at improving care for patients with ESKD.