Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature

Hypophosphatasia (HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. He initially presented with respiratory insufficiency due to bone hypomineralization, and severe pulmonary hypoplasia that required tracheostomy and invasive ventilation for 8 months. He was taken off ventilation at 41 weeks of age. He also presented complications including hypercalcemia, craniosynostosis, nephrocalcinosis, hypotonia, and a severe feeding disorder. He is still alive at 30 months of age, and his respiratory status and tonus is steadily improving. This case reflects the progression of HPP patients with specific therapy added to symptomatic management. Some aspects of the disease are now well known, such as nephrocalcinosis and craniosynostosis, related to the natural course of the disease, which persisted despite the ERT. The long-term prognosis and outcome for this newborn child remain unknown.     

护理质量持续改进在子宫肌瘤护理中的应用简

目的 评价护理质量持续改进在子宫肌瘤护理中的效果.方法 选择2008年11月～2012年3月首都医科大学附属北京妇产医院收治的子宫肌瘤患者86例作为研究对象,将其随机分为观察组和对照组,每组各43例.对照组采用一般常规护理,观察组在常规护理基础上护理质量持续改进,比较两组临床疗效和生活质量,并对两组护理质量进行考核比较.结果 观察组痊愈16例,有效23例,总有效率为90.69％,对照组痊愈12例,有效22例,总有效率为79.07％,两组总有效率比较,差异有高度统计学意义（Ridit Z=36.954,P=0.000）;护理干预后,两组在生理、心理、社会、疾病、满意度及生活质量评分总分方面均有明显好转,差异有统计学意义（P＜0.05）,观察组好转程度优于对照组（P＜ 0.05或P＜ 0.01）;实施护理质量持续改进后,观察组在基础护理、护理安全、病房管理、消毒隔离、护理文书和急救物品方面改善均优于对照组,差异有统计学意义（P＜0.05）.结论 护理质量持续改进可以不断提高护理人员服务质量,提高患者生活质量,在子宫肌瘤护理中效果显著.     

Continuous reference intervals for 19 endocrine,fertility, and immunochemical markers in the CALIPER cohort of healthy children and adolescents

BackgroundReference intervals are traditionally partitioned into discrete ranges by major covariates such as age and sex. However, discrete reference intervals often oversimplify the complex relationship between analyte concentration and age. Continuous reference intervals have been suggested to more accurately represent this complex relationship, particularly in pediatrics. The objective of this study was to establish continuous reference intervals for endocrine, fertility, and additional immunochemical parameters in the CALIPER cohort of healthy children and adolescents.MethodsContinuous reference intervals from 1 to 18.5 years of age were established using retrospective CALIPER data collected from healthy Canadian children and adolescents. Continuous reference intervals (2.5th and 97.5th percentiles) were determined for 19 parameters by nonparametric quantile regression. Total and yearly flagging rates were calculated for the upper and lower continuous reference limits and compared to previously published partitioned reference limits.ResultsContinuous reference intervals were established for 19 endocrine, fertility, and additional immunochemical parameters, with 11 requiring sex-specific reference curves. Continuous reference intervals assessed both visually and by flagging rate analysis more accurately represented the relationship between analyte concentration and age, particularly for parameters with complex reference value patterns.ConclusionThis is the first comprehensive report to establish continuous reference intervals for several immunochemical parameters including endocrine and fertility markers in a healthy paediatric Canadian cohort. The ability of continuous reference intervals to provide a better estimate of age-related changes in reference values suggest their potential to improve paediatric laboratory test result interpretation and clinical decision-making.     

Australia

In the context of Australia's land, people, and turbulent social history, this article explores the Australian health care system, the health issues of Aboriginals, and the role of the social worker in health care.     

影响卵巢癌患者持续性化疗的相关因素及对策

目的探讨影响卵巢癌患者持续性化疗的相关因素及应采取的相应对策。方法对十堰市人民医院2009年6月～2010年6月妇科收治的30例不愿持续性化疗的卵巢癌患者,通过交谈法、倾听法、电话随访方式进行调查,分析其不愿持续性化疗的原因,进行有针对性的心理疏导、相关知识宣教,并采取经济支持、健康教育、社会支持等措施。结果 30例患者都愉快地接受持续性化疗。结论实施有效的伦理干预、健康教育、社会支持等措施,可以促进卵巢癌患者坚持化疗,以延长其生命并提高其生活质量。