Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large‐scale mitochondrial DNA (mtDNA) deletion. PS classically presents in the first year of life and may be fatal in infancy. Children who survive PS may progress to develop Kearns–Sayre syndrome later in life. The full phenotypic spectrum and prognosis of the condition continue to evolve. Here we report five new patients with PS with unique clinical presentations, including four patients with onset later than previously reported in the literature, and one patient with prenatal onset of symptoms. The timing and unique features of these presentations support an expanded phenotypic spectrum of single large‐scale mtDNA deletion syndromes (SLSMDS) and reinforce the importance of including SLSMDS in the differential for children with complex multisystem presentations.     

投入超脱量表的编制与信度效度检验

基于中国道家思想和认知治疗理论的道家认知疗法对个体认知的关注主要在其投入与超脱的程度。投入—超脱是一种对待人生的态度 ,一种价值观。它可以定义为与个体身心健康有关的对待生活的积极或消极的认知。由于生物的、心理的或社会的原因 ,人们对待生活的态度不同。有的人对待生活基本持投入的态度 ,表现为积极进取 ,希求成功 ;有的人基本持超脱的态度 ,表现为消极退守 ,宁静无为。就一般情形而言 ,无论个体的价值观怎样 ,只要是内心和谐而且社会适应良好 ,则应看作是健康的。投入的态度可能与较多的正性情感体验有关 ;超脱的态度可能与较…     

睡眠信念与态度量表在失眠患者健康教育中的应用

目的: 采用睡眠个人信念与态度量表探索患者睡眠障碍与哪些歪曲的信念有关,针对歪曲的信念进行睡眠实践教育,达到促进睡眠的目的.方法: 连续收集62例以失眠为主诉的患者,随机分成试验组与对照组,各31例,两组均在药物治疗及心理治疗基础上进行睡眠健康教育.试验组针对患者自身存在的歪曲信念态度进行健康教育,而对照组只进行常规的健康宣教.入组前及入组后每周,应用睡眠个人信念与态度量表(Dysfunctional Beliefs and Attitudes about Sleep Scale,DBAS)、匹茨堡睡眠指数量表(Pittsburgh Sleep Quality Index,PSQI)对两组进行测评,同时让患者评价睡眠时间、睡眠质量、睡眠效果和对健康教育接受程度.结果: 健康教育4周后试验组和对照组DBAS得分均高于人组时[(111.0±8.7)vs.(88.9±12.3)、(93.5±17.2)vs.(81.3±19.2),P:0.001、0.010],而PSQI得分均低于入组时[(5.5±2.1)vs.(10.9±4.4)、(9.0 ±2.1)vs.(11.5±3.6),均P=0.001];健康教育4周后对照组的DBAS得分低于实验组,而PSQI得分高于实验组.健康教育后试验组对睡眠时间、睡眠质量、睡眠效果满意的比例均明显提高,睡眠时间满意的比例由18/31到30/31,对睡眠质量满意比例由8/31变为23/31,对睡眠效果满意比例由8/31到21/31(均P＜0.05).试验组对睡眠时间满意的比例明显高于对照组(30/31 vs.14/31,P＜0.01),对健康教育的接受程度也明显高于对照组(18/31 vs.5/31,P＜0.05).结论: 试验组健康教育后患者的睡眠信念有了明显的改善,睡眠质量有了提高.     

Infrared spectroscopy: A new diagnostic tool in Alzheimer disease

Biological markers play an evolving role in the diagnosis of Alzheimer disease (AD). We compare conventional measurements of cerebrospinal fluid (CSF) tau and β-amyloid_1–42 proteins to a novel approach – Fourier transformed infrared (FT-IR) spectroscopy – a simple technique derived from chemical and physical sciences that characterizes intramolecular bonds. For automatic diagnostic analysis, we developed an artificial neural network (ANN). We examined 71 patients with a clinical diagnosis of AD and 66 controls. β-Amyloid_1–42 was decreased (sensitivity 80% and specificity 78%); tau was elevated (sensitivity 76% and specificity 88%) in CSF of AD patients. The combined tau/β-amyloid_1–42 quotient was able to distinguish healthy from diseased subjects with 99% sensitivity and 86% specificity. The ANN could separate FT-IR spectroscopy data with 88.5% sensitivity and 80% specificity. FT-IR spectroscopy proved to be cost-effective and simple to perform. Diagnostic sensitivity and specificity is in the range of CSF tau and β-amyloid_1–42 protein analysis. Larger sample numbers for ANN training and validation could increase diagnostic accuracy and thus prove to be a useful screening tool.     

焦虑性神经症患者投入超脱程度及相关因素研究

为了测量焦虑性神经症患者的认知 ,我们编制了精神超脱量表 ,并在大学生和社区人群中进行了信度和效度的检验[1] 。根据道家认知治疗的理论基础 ,焦虑性神经症患者应该存在认知偏差。那么这种偏差具体是什么 ,和患者的人格特征 ,A型行为特征和临床症状又有什么样的关系呢 ?为此我们对焦虑性神经症患者进行了对照研究 ,以验证在临床中发现的神经症患者的认知偏差及其临床意义。1　材料与方法1.1　研究对象患者来自 2 0 0 1年 2月至 2 0 0 2年 8月之间在某综合医院精神科门诊和某精神病院神经症病房就诊的焦虑性神经症患者 ,符合CCMD - 3中…     

中文版亲子互动-喂养量表的信效度初步研究

目的 引入并修订美国华盛顿大学的亲子互动-喂养量表,并在中国人群中进行信效度研究。方法 按照国际测试委员会指南,对原亲子互动-喂养量表进行翻译,形成中文版亲子互动-喂养量表(PCI-FS-C)。2018年6月—2019年1月方便抽样北京、银川、兰州和马鞍山市4所妇幼保健院,招募310例0~12个月母子对,采集婴儿一次完整喂养过程的视频,由经过美国华盛顿大学培训合格获得原版量表评估资质人员进行视频编码评分。抽样6例评估评分者信度;于14~21 d后随机抽样10%评估重测信度;随机抽样41例进行中文版婴儿-学步儿家庭环境观察评估表(IT-HOME-C)效标效度检验。使用多元线性回归进行区分效度分析。结果 共获得273例有效样本。总量表、照护者和婴儿量表内部一致性Cronbach's α 系数分别为0.846、0.805和0.690;总量表、照护者和婴儿量表的重测信度分别为0.847、0.778和0.480(P<0.01);总量表评分者信度Kendall相关性系数为0.860;PCI-FS-C的总分、照护者和婴儿量表总分与IT-HOME-C总分呈显著性中度正相关(r=0.526、0.506、0.427,P＜0.05)。控制混杂因素后,婴儿年龄与PCI-FS-C量表总分、照护者量表和婴儿量表总分显著相关(b=3.24、2.31、0.92)。结论 中文版亲子互动-喂养量表在中国人群中具有良好的信度和效度,可以作为我国婴儿喂养亲子互动的评估工具。今后可以考虑开展大样本量分层抽样的本土化常模研究。     

中文版感知社会支持量表在老年癌症患者中的信效度分析

目的 检验中文版感知社会支持量表（the multidimensional scale of perceived social support, MSPSS）在老年癌症患者中应用的信效度。方法 采用整群抽样的方法,使用中文版感知社会支持量表对老年癌症患者进行调查,并对结果进行信效度检验。结果 共收到有效问卷520份,中文版感知社会支持量表的Cronbach α系数为0.877;探索性因子中共提取出公因子3个,累积方差贡献率为69.5%;通过验证性因子分析得出GFI、CFI、IFI指标范围在0.855～0.921之间。结论 中文版社会支持量表在老年癌症患者中应用具有良好的信效度,可用于评估该人群感知社会支持水平。     

江苏省6县区≥40岁居民生命质量量表信效度检验与常模建立

目的 评估使用SF-12v2量表评价江苏省6县区≥40岁居民生命质量的信度和效度,获取江苏省≥40岁居民的常模参考数据。方法 采用多阶段分层整群抽样的方法,在江苏6个县区调查完成3 583份SF-12v2问卷。使用Cronbach's α和Spearman-Brown折半信度进行信度分析,使用因子分析、集合度和区分度实验进行效度分析。结果 SF-12v2量表12项条目的Cronbach’s α为0.886,删除任1维度后的Cronbach’s α为0.810~0.841,生理总评分和心理总评分的Cronbach’s α为0.767和0.759;Spearman-Brown折半信度为0.795。因子分析结果显示,采用方差最大正交旋转法共提取2个主成分,累计方差贡献率为61.2%。SF-12v2量表的8个维度中,各维度的集合效度下限均高于区分效度的上限,集合效度实验和区分效度实验的成功率均为100%。结论 SF-12v2量表应用于评价≥40岁居民的生命质量具有良好的信度和效度,各维度评分可作为江苏省≥40岁居民生命质量的常模参考数据。     

中国幼儿睡眠状况评估量表的编制与评价研究

目的 编制适用于我国12～35月龄幼儿的睡眠状况评估量表,评价其信度、效度和可行性,为评估中国幼儿睡眠情况提供适宜的评估工具。 方法 建立条目池,通过头脑风暴法、德尔菲法和预调查对条目进行初筛和修改。采用抽样调查方法,2019年7-11月从全国6个社区、6个乡镇和两家睡眠门诊选择12～35月龄幼儿看护人进行现场调查,共收回有效问卷551份。采用项目分析、效度分析、信度分析、可行性和验证性因子分析对量表进行评价。 结果 幼儿睡眠状况评估量表(12～35个月)包含睡眠节律、夜醒情况、入睡行为、日间嗜睡,睡眠呼吸和异态睡眠6个因子20个条目,累积解释变异量为55.55%。所有条目的内容效度指数介于0.83～1.00。量表入睡潜伏期、夜醒次数、睡眠时间3个条目与简明婴儿睡眠问卷呈正相关(r=0.41、0.69、0.42,P＜0.001)。除日间嗜睡外,社区幼儿量表总分以及其他5个因子得分均低于门诊幼儿(P＜0.05)。量表总Cronbach's α系数为0.72,两周重测信度为0.84,完成率为92.6%。验证性因子分析结果显示,量表的因子结构模型较为合理、稳定。 结论 量表具有较好的信度效度,可以区分不同幼儿的睡眠状况,有助于及早发现幼儿的睡眠问题。     

Frailty in Nursing Homes—A Prospective Study Comparing the FRAIL-NH and the Clinical Frailty Scale

ObjectivesFrailty is common in nursing home (NH) residents, but its prevalence in German institutions is unknown. Valid and easy-to-use screening tools are needed to identify frail residents. We used the FRAIL-NH scale and the Clinical Frailty Scale (CFS) to (1) obtain the prevalence of frailty, (2) investigate the agreement between both instruments, and (3) evaluate their predictive validity for adverse health events in German NH residents.DesignProspective cohort study.Setting and participantsGerman NH residents (n = 246, age 84 ± 8 years, 67% female).MethodsFrailty status was categorized according to FRAIL-NH (nonfrail, frail, most frail) and CFS (not frail, mild to moderately frail, severely frail). Agreement between instruments was examined by Spearman correlation, an area under the receiver operating characteristic curve (AUC) with 95% CI, and sensitivity and specificity using the “most frail” category of FRAIL-NH as reference standard. Adverse health events (death, hospital admissions, falls) were recorded for 12 months, and multivariate cox and logistic regression models calculated.ResultsAccording to FRAIL-NH, 71.1% were most frail, 26.4% frail, and 2.5% nonfrail. According to CFS, 66.3% were severely frail, 26.8% mild to moderately frail, and 6.9% not frail. Both scales correlated significantly (r = 0.78; R² = 60%). The AUC was 0.92 (95% CI 0.88-0.96). Using a CFS cutoff of 7 points, sensitivity was 0.90 and specificity 0.92. The frailest groups according to both instruments had an increased risk of death [FRAIL-NH hazard ratio (HR) 2.19, 95% CI 1.21-3.99; CFS HR 2.56, 95% CI 1.43-4.58] and hospital admission [FRAIL-NH odds ratio (OR) 1.95, 95% CI 1.06-3.58; CFS OR 1.79, 95% CI 1.01-3.20] compared to less frail residents. The FRAIL-NH predicted recurrent faller status (OR 2.57, 95% CI 1.23-5.39).Conclusions and implicationsFrailty is highly prevalent in German NH residents. Both instruments show good agreement despite different approaches and are able to predict adverse health outcomes. Based on our findings and because of its simple administration, CFS may be an alternative to FRAIL-NH for assessing frailty in NHs.