RNA-Seq analysis in an avian model of maternal phenylketonuria

Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In this study we used RNA-Seq to investigate an avian model of MPKU and establish differential gene expression (DEG) characteristics of the early developmental stages HH10, 12, and 14. In total, we identified 633 significantly differentially expressed genes across stages HH10, 12, and 14. As expected, functional annotation of significant DEGs identified associations seen in clinical phenotypes of MPKU including CVMs, congenital heart defects, craniofacial anomalies, central nervous system defects, and growth anomalies. Additionally, there was an overrepresentation of genes involved in cardiac muscle contraction, adrenergic signaling in cardiomyocytes, migration, proliferation, metabolism, and cell survival. Strikingly, we identified significant changes in expression with multiple genes involved in Retinoic Acid (RA) metabolism and downstream targets. Using qRTPCR, we validated these findings and identified a total of 42 genes within the RA pathway that are differentially expressed. Here, we report the first elucidation of the molecular mechanisms of cardiovascular malformations in MPKU conducted at early developmental timepoints. We provide evidence suggesting a link between PHE exposure and the alteration of RA pathway. These results are promising and offer novel findings associated with congenital heart defects in MPKU.     

Effectiveness of a Hospital-at-Home Integrated Care Program as Alternative Resource for Medical Crises Care in Older Adults With Complex Chronic Conditions

Objectives

To compare clinical outcomes in older patients with acute medical crises attended by a geriatrician-led home hospitalization unit (HHU) vs an inpatient intermediate-care geriatric unit (ICGU) in a post-acute care setting.

Formal and informal care for community‐dwelling frail elderly people over time: A comparison of integrated and usual care in the Netherlands

While integration has become a central tenet of community‐based care for frail elderly people, little is known about its impact on formal and informal care and their dynamics over time. The aim of this study was therefore to examine how an integrated care intervention for community‐dwelling frail elderly people affects the amount and type of formal and informal care over 12 months as compared to usual care. A quasi‐experimental design with a control group was used. Data regarding formal and informal care were collected from frail elderly patients (n = 207) and informal caregivers (n = 74) with pre/post‐questionnaires. Within‐ and between‐group comparisons and multiple linear regression analyses were performed. The results showed marginal changes over time in the amount of formal and informal care in both integrated care and usual care. However, different associations between changes in formal and informal care were found in integrated and usual care. Most notably, informal caregivers provided more instrumental assistance over time if formal caregivers provided less personal care (and vice versa) in integrated care but not in usual care. These results suggest that integrated care does not necessarily change the contribution of formal or informal care, but changes the interaction between formal (personal care) and informal (instrumental) activities. Implications and recommendations for research and practice are discussed. Trial registration: Current Controlled Trials ISRNT05748494.     

Implementing health and social care integration in Scotland: Renegotiating new partnerships in changing cultures of care

Health and social care integration has been a long‐term goal for successive governments in Scotland, culminating in the implementation of the recent Public Bodies (Joint Working) Scotland Act 2014. This laid down the foundations for the delegation of health and social care functions and resources to newly formed Integrated Joint Boards. It put in place demands for new ways of working and partnership planning. In this article, we explore the early implementation of this Act and how health and social care professionals and the third sector have begun to renegotiate their roles. The paper draws on new empirical data collated through focus groups and interviews with over 70 professionals from across Scotland. The data are explored through the following key themes: changing cultures, structural imbalance, governance and partnership and the role of individuals or “boundary spanners” in implementing change. We also draw on evidence from other international systems of care, which have implemented integration policies, documenting what works and what does not. We argue that under the current framework much of the potential for integration is not being fulfilled and that the evidence suggests that at this early stage of roll‐out, the structural and cultural policy changes that are required to enable this policy shift have not yet emerged. Rather, integration has been left to individual innovators or “boundary spanners” and these are acting as key drivers of change. Where change is occurring, this is happening despite the system. As it is currently structured, we argue that too much power is in the hands of health and despite the rhetoric of partnership working, there are real structural imbalances that need to be reconciled.     

Recurrence risk of a hypotonic hyporesponsive episode in two Australian specialist immunisation clinics

BackgroundA hypotonic hyporesponsive episode (HHE) is a well-described adverse event following immunisation (AEFI) in young children. There is limited data regarding recurrence post re-vaccination.MethodA retrospective analysis of HHEs reported to two tertiary paediatric hospitals in Australia: The Royal Children’s Hospital, Melbourne [2006–11] and the Children’s Hospital Westmead, Sydney [1997–2014].HHE definition level of confidence was allocated according to Brighton Collaboration (BC) criteria and defined immediate if within 30 min post vaccination. The Australian Immunisation Register (AIR) was utilised to document current immunisation status.Results235 HHE cases (135 Melbourne, 100 Sydney) were identified: 47% were female and 67% (157/235) occurred following the routine dose one vaccines at 6–8 weeks of age. Median time following immunisation was 120 min (range 1 min to 14 days) An immediate HHE occurred in 43% (102/235) and by BC criteria, 74% (173/235) were level 1 (definite). Subsequent vaccines were administered under supervision in hospital in 37% overall (86/235); 43% (58/135) in Melbourne and 28% (28/100) in Sydney. HHE recurrence rate was 3% (7/235) [95% confidence interval 1–6%]. AIR records were available in 94% (221/235). At a median age of 3.1 years, 84% (186/221) were up-to-date with recommended vaccines.ConclusionThis study highlights the importance of specialist immunization clinics in supporting the National Immunisation Program, through follow-up and management of serious adverse events following immunization.     

中西医结合治疗2型糖尿病合并下肢丹毒临床研究

目的:观察中西医结合治疗2型糖尿病合并下肢丹毒的临床疗效。方法:将60例就诊于本院的下肢丹毒患者,按照就诊时是否合并糖尿病分为糖尿病组和非糖尿病组,每组各30例。两组患者均采用中西医结合疗法。观察两组患者的临床疗效、治愈时间及症状、体征恢复至正常时间。结果:两组患者有效率均为100%,差异无统计学意义(P0.05)。糖尿病组愈合时间明显长于非糖尿病组,差异具有统计学意义(P0.05)。糖尿病组症状、体征恢复至正常时间均长于非糖尿病组,差异具有统计学意义(P0.05)。结论:2型糖尿病患者发作下肢丹毒年龄大,感染重,局部易出现水疱,疗程长。     

中医药治疗干眼症研究进展

近年来人们对干眼症的关注与日俱增,中医药发挥其传统优势,运用内治,外治,针灸等方法,达到机体脏腑功能平衡,气血津液充足,化生泪液有源,泪液不乏。但是,目前中医学对于干眼症的研究还存在一些问题。第一,干眼的疗效评价标准参照西医学标准,中医方面尚无统一标准。第二,干眼症的中医辨证分型也无统一标准,数据可信度难以保证。第三,临床的研究设计多为小样本,科研设计不够严谨,缺乏相关的动物实验研究。干眼症是多种原因诱发的疾病,已经逐步引起人们的重视,但就其发病的病因及机制应更进一步的深入研究。治疗上应在中医整体观念的指导下,运用辨证施治同时结合现代医学理论。应统一干眼症的辨证分型及疗效评价标准,增加临床观察指标的客观性及可信度,同时临床学者及科研工作者应尝试采取大样本,多中心的随机对照实验,让研究结果更有说服力,也应该尝试更多的动物实验研究,运用先进的科学技术及方法研究本病的病理生理状况,预防等,将其结果转化为临床可用的知识,为干眼症的诊疗开辟新的篇章。     

中西医治疗慢性细菌性前列腺炎临床观察

目的针对慢性细菌性前列腺炎难治易复发的特点,通过中西医结合治疗,进行疗效及愈后复发的差异比较,观察结果并对其发病机理进行探讨。方法随机选择近5年慢性细菌性前列腺炎患者97例。治疗组采用敏感药物前列腺内注入、中药口服、中药保留灌肠,观察评定治疗后临床疗效。结果治疗组治愈率、显效率、总有效率显著高于对照组,治疗组复发率明显低于对照组。结论病灶内注入药物配合中药冲服治疗,可作为临床治疗慢性细菌性前列腺炎的有效方法,疗效好。     

中西医结合长疗程治疗强直性脊柱炎临床分析

目的探讨在强直性脊柱炎临床治疗中运用中西医结合方法的临床效果。方法选取我院2013—2016年收治的90例强直性脊柱炎患者作为本次研究对象,按照治疗方式不同将所选病例分为采取中西医结合治疗的观察组与单纯运用西医治疗的对照组,比较两组治疗效果。结果观察组本次治疗总有效率明显高于对照组,差异有统计学意义(P0.05);治疗后两组患者ESR、CRP均有不同程度地降低,但观察组上述两项指标降低的程度显著优于对照组,差异有统计学意义(P0.05)。结论在强直性脊柱炎临床治疗中采取中西医结合治疗临床效果显著,明显降低患者ESR、CRP指标,值得临床推广应用。     

中西医结合治疗功能性消化不良临床观察

目的评价中西医结合治疗脾虚气滞型功能性消化不良的临床疗效。方法将112例中医辨证为脾虚气滞型的功能性消化不良患者随机分为治疗组和对照组。对照组给予西医规范治疗,治疗组在对照组基础上加用中药治疗。两组疗程均为3周。观察两组患者的症状、体征、疗效。结果治疗后两组患者对比,治疗组患者的症状改善较对照组更为明显。其差异具有统计学意义(P0.05)。结论中医药能更好地改善功能性消化不良患者的临床症状,较单纯西医治疗更能获得满意的疗效。