宿迁地区先天性肾上腺皮质增生症筛查结果的探讨分析

目的总结分析宿迁地区2016-2018年新生儿先天性肾上腺皮质增生症(CAH)的筛查结果。方法采用实际分辨荧光免疫法,对宿迁地区2016-2018年155686例新生儿检测17羟孕酮(17-OHP)浓度,进行CAH筛查,对可疑CAH阳性患儿进行召回复查并进一步确诊。所有确诊患儿建立治疗随访档案。结果155686例新生儿中,CAH可疑阳性召回1235例,召回率82.28%,确诊9例,发病率为1/17298;早产儿(14.96±9.81 nmol/L)和足月儿(9.28±4.54 nmol/L),以及低体重儿(14.45±10.52 nmol/L)和正常体重儿(9.38±4.71 nmol/L)17-OHP浓度差异有统计学意义(P<0.01),早产儿17-OHP浓度的95%和99%百分位数分别为31.82、51.70,低体重儿17-OHP浓度95%和99%百分位数分别32.75、52.01。结论早产儿和低体重儿阳性切值明显高于正常产儿,为减少假阳性率和召回率应予区分。开展CAH筛查对疾病早期诊断和患儿及时治疗有积极意义。     

新生儿先天性肾上腺皮质增生症筛查的初步报告

目的开展新生儿先天性。肾上腺皮质增生症（CAH）筛查,降低残疾儿童的发生率,提高人口素质。方法采用时间分辨荧光免疫分析法检测新生儿滤纸干血片上的17－羟孕酮（17－OHP）浓度。结果筛查93971例新生儿,确诊5例,CAH发生率为1／18795;98．7％的新生儿17－OHP〈40nmol／L。结论开展新生儿CAH筛查可以早期诊断和治疗CAH,值得在我国推广。17－OHP的阳性临界值取40nmol／L是可行的。     

西安市先天性肾上腺皮质增生症新生儿末梢血17α-羟孕酮筛查切值研究

目的 初步探讨西安市不同性别、孕周及出生体重新生儿先天性肾上腺皮质增生症 (congenital adrenal hyperplasia,CAH) 筛查切值。方法 回顾性分析 2019 年 1 月～ 2020 年 12 月西安市新生儿疾病筛查中心 170 949 例新生儿,出生体重为 3.245±2.735 kg,孕周为 34.05±9.05 周,采用全自动荧光免疫分析仪检测足跟血 17α- 羟孕酮(17α-hydroxyprogesterone,17α-OHP)水平,其中初筛阳性 2 678 例,筛查阳性 391 例,确诊 14 例。按照性别、出生孕周和体重进行分组,组间差异有统计学意义 (P < 0.05),并以 99% 百分位数确定切值。结果 不同性别、出生孕周及体重新生儿 17α-OHP 浓度 99% 百分位数在 9.40～24.47 nmol/L 之间,组间差异具有统计学意义(Z=22.50～104.31,均 P = 0.000)。不同性别、出生孕周及体重新生儿 17α-OHP 初筛阳性率及筛查阳性率组间差异具有统计学意义(χ²=20.578～7 ...     

柳州地区早产儿先天性肾上腺皮质增生症筛查实验cut-off值初探

目的确立柳州地区17-羟孕酮（17-OHP）对早产儿先天性肾上腺皮质增生症筛查的cut-off值。方法新生儿出生72h后采集足跟血,滴于规定滤纸上,采用时间分辨荧光免疫分析法检测17-OHP浓度。结果收集1721例早产儿,正常体质量（≥2500g）早产儿749例,17-OHP浓度的95％、99％分位数值分别为26．4nmol／L、38．1nmol／L;低体质量（〈2500g）早产儿为972例,17-0HP浓度的95％、99％分位数值分别为37．7nmol／L、67．0nmol／L。低体质量早产儿17-0HP浓度与正常体质量早产儿比较,差异有统计学意义（P〈0．01）。正常体质量早产儿17-OHP浓度cut-off值为30．0nmol／L,低体质量早产儿的17-OHP浓度cut-off值为40．0nmol／L。结论早产儿17-OHPcut-off值确定,对先天性肾上腺皮质增生症筛查具有临床意义。     

时间分辨荧光免疫分析法检测干血滤纸片17α-羟孕酮的影响因素分析

目的分析时间分辨荧光免疫分析法(TrFIA)检测干血滤纸片17α-羟孕酮(17α-OHP)的影响因素并提出对策,以提高新生儿先天性肾上腺皮质增生症(CAH)的筛查质量。方法将干血滤纸片标本分别按抗血清和铕示踪剂的加样量(150μL、110μL、100μL、90μL、50μL)分5组,采用TrFIA法测定干血滤纸片17α-OHP的浓度;比较58孔微孔板底部去除水汽前、后的17α-OHP浓度;比较30例干血斑不同取样部位(中央和边缘)的17α-OHP浓度。结果抗血清和铕示踪剂的加样量对测定结果的影响与100μL组比较,差异有统计学意义(P<0.01);微孔板底部水汽存在与否对检测结果的影响有统计学意义(P<0.01);取样部位(中央和边缘)对测定结果影响不大,差异无统计学意义(P>0.05)。结论新生儿CAH筛查试验时应保证试剂加样量准确,微孔板底部干燥。     

GSP分析仪筛查新生儿疾病的性能验证和应用

目的用全自动荧光免疫分析仪(Genetic Screening Processor,GSP)检测新生儿先天性甲状腺功能减低症(congenital hypothyroidism,CH)和先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)筛查的指标——促甲状腺激素(thyroidstimulating hormone,TSH)和17羟基孕酮(17-OH-progesterone,17-OHP),评估GSP应用于临床的可行性。方法检测美国疾病预防与控制中心(Centers for Disease Control and Prevention,CDC)的滤纸干血片标本和GSP配套试剂盒内质控品,计算GSP的正确度、精密度和线性;检测临床明确诊断的标本,TSH 1 012例(阳性60例,阴性952例)和17-OHP 991例(阳性34例,阴性957例),ROC曲线统计确定初始cut-off值,比对与临床诊断的一致性。结果 TSH和17OHP的批内不精密度分别为6.69%~12.6%和7.52%~9.29%,批间不精密度分别为6.91%~10.96%和6.86%~12.36%;偏移分别为-14.28%~-0.74%和-0.45%~12.54%;检测结果线性良好;初始cut-off值为23.43 U/m L(TSH)和21.42 ng/m L(17-OHP),敏感性为100%,特异性依次为98.11%和99.58%,与临床诊断结果一致性好。结论 GSP作为新生儿疾病筛查领域的首台全自动荧光免疫分析仪,满足实验室要求,可作为常规技术应用于CH和CAH的筛查。     

新生儿疾病筛查中早产低体重儿的17-羟孕酮的分布

先天性肾上腺皮质增生症 (CAH)是一组常染色体隐形遗传性疾病 ,该病的危害巨大 ,但可通过测定新生儿末梢血中的 17-羟孕酮的浓度早发现早治疗以避免此病的危害 ,由于 17-羟孕酮的浓度与新生儿的体重有一定关系 ,所以采用说明书提供的单一的阳性切割值 (<30nmol/L)容易导致早产低体重儿的假阳性率和召回率升高 ,济南市疾病筛查中心自开展先天性肾上腺皮质增生症的筛查以来共筛查了 780 0余例新生儿 ,查出阳牲患儿一例 ,共统计了 10 4例早产低体重儿 (孕周 <37周 ,体重 <2 5 90千克 ) ,对这 10 4例新生儿末梢血 17-羟孕酮浓度进行统计分析发…     

山东省18家新生儿疾病筛查中心实验室TSH和17α-OHP项目室内质控数据室间比对分析

目的 应用新生儿疾病筛查数据分析与质量控制管理平台对山东省18家新生儿疾病筛查中心实验室的两项室内质控数据17羟孕酮(17α-hydroxyprogesterone,17α-OHP)和促甲状腺素(thyroid-stimulating hormone,TSH)进行室间比对分析。方法 17α-OHP和TSH的实验室检测方法为时间分辨免疫荧光法,并通过荧光分析仪计算出质控数据,质控数据由各实验室定期上传至山东省新生儿筛查数据分析与质量控制管理平台,最终应用此平台采集全省18家参评实验室的室内质控数据并进行分析。结果 17α-OHP低值质控测定数与变异系数(CV)、标准差指数(SDI)、变异系数指数(CVI)和总误差(TE)合格率分别为6 536,15.38%,100%,46.15%和100%; 相应高值质控分别为6 580,61.54%,100%,61.54%和100%。相应TSH低值质控测定数与CV,SDI,CVI和TE合格率分别为4 964,90.91%,90.91%,72.73%和100%; 相应高值质控分别为4 967,90.91%,100%,90.91%和100%。结论 通过对山东省18家新生儿疾病筛查实验室17α-OHP和TSH两项室内质控数据室间比对分析,可帮助各新生儿疾病筛查中心管理室内质控、统计分析数据、评价实验室的精密度和准确度,掌握各新生儿疾病筛查实验室质量控制现状,提高筛查质量。     

广西地区新生儿疾病筛查结果回顾性分析

目的：了解2009～2012年广西地区新生儿疾病筛查情况及确诊率。方法通过检测促甲状腺素（TSH）筛查甲状腺功能减低症（CH）、苯丙氨酸（PHe）筛查苯丙酮尿症（PKU）、17-羟孕酮（17-OHP）筛查先天性肾上腺皮质增生症（CAH）、葡萄糖-6-磷酸脱氢酶（G-6-PD）筛查G-6-PD缺乏症,对初次筛查阳性的患儿进行及时召回并确诊。结果2009年1月至2012年12月广西新生儿疾病筛查中心合作单位的新生儿筛查率呈逐年上升趋势且CH、PKU、CAH、G-6-PD初次筛查阳性患儿召回率及确诊率存在差异。结论新生儿筛查可以在早期发现CH、PKU、CAH、G-6-PD缺乏症患儿,对其早期进行干预可以防止其发病从而降低对其智力及生长发育的影响,对提高人口素质有重要意义。     

391714例新生儿先天性肾上腺皮质增生症筛查与基因检测

目的 了解广西地区先天性肾上腺皮质增生症（CAH）的发病率与基因检测结果。方法 选择2015-2021年期间在广西新筛中心管辖范围内的168家助产医院出生的391 714例新生儿为研究对象,采用时间分辨荧光法检测17羟孕酮（17-OHP）,对可疑阳性患儿召回复查,对二次召回阳性患儿结合相关临床辅助检测,采用Sanger测序联合MLPA技术对患儿21-羟化酶基因CYP21A2基因进行检测,确定基因型。结果 391 714例新生儿中,CAH初筛阳性1 769例,确诊21例,确诊年龄为2～27 d,发病率为1/18 653;确诊患儿均能发现相关基因变异,且CYP21A2基因变异多样化,c.293-13A/C> G是本地区的热点变异,发生率为33%。结论 对21-羟化酶基因的检测,可检测出CYP21A2基因点突变和大片段缺失;结合17-OHP升高、临床表现从而有效诊断CAH患儿,可防止威胁生命的肾上腺皮质危象的发生。     

Determination of creatine kinase isoenzyme MB activity in serum using immunological inhibition of creatine kinase M subunit activity. Activity kinetics and diagnostic significance in myocardial infarction.

This is a new method for the determination of creatine kinase isoenzyme MB activity in serum. The method uses direct activity measurement of creatine kinase B subunit activity after blocking of CK-M subunit activity by inhibiting antibodies. The test takes no longer than 15 min. The method yields an intra-serial C.V. of 2.0-12.9%, and a C.V. from day to day of 5.5%. The detection limit is 3.4 U/l creatine kinase MB. In the 95 cases with proven myocardial infarction several types of creatine kinase MB activity kinetics could be determined. The percentage of creatine kinase MB of peak CK-total is 6-25%, with a mean of 11.1%. The amount of creatine kinase MB with respect to total CK activity after reinfarction is higher than the amount after initial infarction.     

俯卧位通气对高海拔地区肺复张治疗无效急性呼吸窘迫综合征患者氧合的影响

目的 探讨俯卧位通气对高海拔地区肺复张术(RM)治疗无效急性呼吸窘迫综合征(ARDS)患者的治疗作用.方法 从海拔2260m的地区医院筛选RM治疗无效的41例ARDS患者[平均氧合指数( PaO2/FiO2)较RM前升高＜20％视为RM无效],依不同病因分为肺内源性ARDS组(ARDSp组)和肺外源性ARDS组(ARDSexp组),每组再按信封法随机分为俯卧位组和仰卧位组,即ARDSp俯卧位组(11例)、ARDSp仰卧位组(9例)、ARDSexp俯卧位组(10例)、ARDSexp仰卧位组(11例).在通气前及通气1、2、3、4h监测动脉血氧分压( PaO2)、PaO2/FiO2、静态顺应性(Cst)、气道阻力(Raw)的变化.结果 通气lh时,ARDSexp俯卧位组PaO2/FiO2( mm Hg,l mm Hg=0.133 kPa)即较通气前显著升高(157.4±40.6比129.3±48.7,P＜0.05),并随通气时间延长呈持续增高趋势,4h达峰值(219.1 ±41.1);且ARDSexp俯卧位组通气3h内PaO2/FiO2较其他3组显著增高,另3组间则差异无统计学意义.ARDSp俯卧位组、ARDSexp俯卧位组通气4h时PaO2/FiO2均较相应仰卧位组显著增高(208.8±39.7比127.4±47.1,219.1±41.1比124.9±50.8,均P＜0.05).4组通气前后Cst无显著改变,各组间差异也无统计学意义.ARDSp俯卧位组通气4h时Raw(cmH2O·L-1·s-1)较通气前显著降低(6.8±1.7比10.7±1.8,P＜0.05),且明显低于其他3组;其他3组各时间点Raw组内及组间比较差异均无统计学意义.结论 俯卧位通气作为ARDS机械通气重要策略之一,可以改善RM无效高原ARDS患者的氧合,为抢救患者赢得宝贵的时间.     

Digital imaging among medical facilities

The Department of Veterans Affairs (VA) in the USA operates a network of 172 medical centres which all utilize a hospital information system (HIS) which has been developed and is currently maintained by the VA. During the past several years, an image management and communication module has been developed, installed and clinically utilized at the Washington DC and Maryland VA Medical Centres. This image management and communication system, referred to as the decentralized hospital computer program (DHCP) imaging system, is fully integrated with a commercial picture archiving and communication system (PACS). The system is utilized to capture, archive, and display all images generated within the hospital including radiology, nuclear medicine, pathology, endoscopy, bronchoscopy, and dermatology, intraoperative photographs, ECG data, and a limited number of paper documents. The ultimate goal of the project is to have all patient text and image data available at any clinical workstation to any authorized user anywhere within the network of medical centres. Clinical requirements for an imaging workstation include ease of use, rapid and reliable access to the complete set of patient information, and images which are of acceptable quality to meet the requirements of the user and the subspecialty. Patient confidentiality and data security must be safeguarded at all times. Integration of the images with the remainder of the patient's database was found to be critical to the success of the project. The experience at the Washington and Maryland facilities suggests that an imaging system that is successfully integrated with a hospital information system can provide substantial clinical and economic benefits both within and among medical centres. Clinical acceptance and utilization of the system has been excellent, particularly in diagnostic radiology where DHCP Imaging has been interfaced to a commercial PAC system. Based upon this initial experience, the VA has begun to deploy the system throughout its large network of medical centres.     

Myocardial elastography at both high temporal and spatial resolution for the detection of infarcts

Myocardial elastography is a novel method for noninvasively assessing regional myocardial function, with the advantages of high spatial and temporal resolution and high signal-to-noise ratio (SNR). In this paper, in-vivo experiments were performed in anesthetized normal and infarcted mice (one day after left anterior descending coronary artery [LAD] ligation) using a high-resolution (30 MHz) ultrasound system (Vevo 770, VisualSonics Inc., Toronto, ON, Canada). Radiofrequency (RF) signals of the left ventricle (LV) in longitudinal (long-axis) view and the associated electrocardiogram (ECG) were simultaneously acquired. Using a retrospective ECG gating technique, 2-D full field-of-view RF frames were acquired at an extremely high frame rate (8 kHz) that resulted in high-quality incremental displacement and strain estimation of the myocardium. The incremental results were further accumulated to obtain the cumulative displacements and strains. Two-dimensional and M-mode displacement images and strain images (elastograms), as well as displacement and strain profiles as a function of time, were compared between normal and infarcted mice. Incremental results clearly depicted cardiac events including LV contraction, LV relaxation and isovolumetric phases in both normal and infarcted mice, and also evidently indicated reduced motion and deformation in the infarcted myocardium. The elastograms indicated that the infarcted regions underwent thinning during systole rather than thickening, as in the normal case. The cumulative elastograms were found to have higher elastographic SNR (SNR(e)) than the incremental elastograms (e.g., 10.6 vs. 4.7 in a normal myocardium, and 6.0 vs. 2.4 in an infarcted myocardium). Finally, preliminary statistical results from nine normal (m = 9) and seven infarcted (n = 7) mice indicated the capability of the cumulative strain in differentiating infracted from normal myocardia. In conclusion, myocardial elastography could provide regional strain information at simultaneously high temporal (>/=0.125 ms) and spatial ( approximately 55 microm) resolution as well as high precision ( approximately 0.05 microm displacement). This technique was thus capable of accurately characterizing normal myocardial function throughout an entire cardiac cycle, at the same high resolution, and detecting and localizing myocardial infarction in vivo.     

Clinical Pharmacokinetics of Morphine

Morphine, the most widely used mu-opioid analgesic for acute and chronic pain, is the standard against which new analgesics are measured. A thorough understanding of the pharmacokinetics of morphine is required in order to safely and effectively use this analgesic in a wide variety of patients with different levels of organ function. A MEDLINE search was conducted to identify literature published between 1966 and January 2002 relevant to the pharmacokinetics of morphine. These publications were reviewed and the literature summarized regarding unique and clinically important elements of morphine disposition relative to its parenteral administration (including intravenous, intramuscular, subcutaneous, epidural and intrathecal administration), absorption profile (immediate release, controlled release, and sublingual/buccal, and rectal administration), distribution, and its metabolism/ excretion. Special populations, including infants, elderly, and those with renal/liver failure, have a unique morphine pharmacokinetic profile that must be taken into account in order to maximize analgesic efficacy and reduce the risk of adverse events.     

手转胎头术失败的原因与分娩结局临床分析

目的 探讨手转胎头术失败的原因与分娩结局.方法 选择2008年1月至2010年12月于我院住院分娩的持续性枕横位、枕后位产妇198例,根据行手转胎头术后结果分为成功组126例、失败组72例.比较两组分娩结局,对比分析失败原因.结果 失败组胎儿体质量≥3500 g的发生率[76.4％(55/72)]明显高于成功组[31.7％(40/126)],差异有统计学意义(x2=30.177,P=0.001)、失败组宫缩乏力发生率[58.3％(42/72)]高于成功组[38.1％ (48/126)],差异有统计学意义(x2=7.569,P=0.006)、失败组骨盆临界或轻度狭窄发生率[38.9％ (28/72)]高于成功组[23.8％(30/126)],差异有统计学意义(x2 =5.030,P=0.002)、失败组手转胎头时机不当(宫口开大＜6 cm、胎头位于坐骨棘上及宫口开大8～10 cm、胎头位于坐骨棘下≥2 cm)发生率[61.1％(44/72)]高于成功组[38.9％(49/126)],差异有统计学意义(x2=9.084,P=0.003).失败组母儿并发症(产后出血、产褥病率、胎儿窘迫、新生儿窒息)发生率高于成功组(x2 =9.586,P=0.002、x2=9.334,P=0.002、x2=5.910,P=0.015、x2=5.240,P=0.022)、失败组剖宫产发生率[72.2％(52/72)]明显高于成功组[34.1 ％(43/126),x2=26.641,P=0.001)].结论 手转胎头术能使难产变顺产,降低剖宫产率,减少母儿并发症,但须积极预防、处理导致手转胎头术失败的原因,对矫正失败后继续矫正及试产应慎重.     

Evidence-Based Pain Management and Palliative Care in Issue Four for 2009 of The Cochrane Library

ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly. Issue 4 for 2009 contains 4027 complete reviews, 1906 protocols for reviews in production, and 11447 one-page summaries of systematic reviews published in the general medical literature. In addition, there are citations of 600,000 randomized controlled trials, and 12,200 cited papers in the Cochrane methodology register. The health technology assessment database contains over 7500 citations. This edition of the Library contains 90 new reviews, of which 19 have potential relevance for practitioners in pain and palliative medicine.     

Wie zuverlässig sind Angaben zu nichtentzündlichen ausgedehnten Schmerzen?

ZusammenfassungFragestellung Es wurde geprüft, wie sich der Differenziertheitsgrad zweier Schmerzmessmethoden auf Angaben zur Ausgedehntheit klinischer Schmerzen auswirkt. Zugleich wurde der Referenzzeitraum variiert, über den die Patienten berichten sollten.Methode Erfasst wurde der Einfluss zu Lasten der Befragungsdifferenziertheit durch den Vergleich zweier Körperschema-Bildvorlagen. Drei Referenzzeiträume (Schmerz aktuell, letzte Woche, letztes halbes Jahr) wurden vorgegeben.Ergebnisse Patienten mit ausgedehnten Schmerzen gaben bei differenzierter Befragung um so mehr Schmerzen an, je weiter die Schmerzen zurück lagen und je größer der Berichtszeitraum war. Patienten mit gelenknahen Schmerzen gaben bei hoch differenzierter Befragung weniger ausgedehnte Schmerzen in der Vergangenheit an als bei globaler Einschätzung. Patienten mit Rückenschmerzen berichteten bei differenzierter Befragung zum aktuellen Schmerz über weniger ausgedehnte Schmerzen als bei globaler Befragung.Schlussfolgerung Die Angaben zur Schmerzausdehnung variieren vor allem bei Patienten mit ausgedehnten Schmerzen in Abhängigkeit von der Differenziertheit der Befragung. In diesen Fällen ist die Wahrscheinlichkeit erhöht, dass sich die Beschwerdesymptomatik zumindest teilweise erst in der Reaktion auf die situativen Befragungsbedingungen konstituiert und daher nicht auf andere Befragungsbedingungen generalisiert werden kann.