• 【胎儿和母亲QRS复合体的重合对胎儿心率可靠性的影响。】 复制标题 收藏 收藏
    DOI:10.1007/s11517-006-0054-0 复制DOI
    作者列表:Matonia A,Jezewski J,Kupka T,Horoba K,Wrobel J,Gacek A
    BACKGROUND & AIMS: :Bioelectrical fetal heart activity being recorded from maternal abdominal surface contains more information than mechanical heart activity measurement based on the Doppler ultrasound signals. However, it requires extraction of fetal electrocardiogram from abdominal signals where the maternal electrocardiogram is dominant. The simplest technique for maternal component suppression is a blanking procedure, which relies upon the replacement of maternal QRS complexes by isoline values. Although, in case of coincidence of fetal and maternal QRS complexes, it causes a loss of information on fetal heart activity. Its influence on determination of fetal heart rate and the variability analysis depends on the sensitivity of the heart-beat detector used. The sensitivity is defined as an ability to detect the incomplete fetal QRS complex. The aim of this work was to evaluate the influence of the maternal electrocardiogram suppression method used on the reliability of FHR signal being calculated.
    背景与目标: :从产妇腹部表面记录的生物电胎儿心脏活动比基于多普勒超声信号的机械心脏活动测量所包含的信息更多。但是,这需要从以孕妇心电图为主的腹部信号中提取胎儿心电图。抑制母体成分的最简单技术是消隐程序,该程序依赖于用等值线值替代母体QRS络合物。尽管在胎儿和母亲QRS复合体重合的情况下,它会导致胎儿心脏活动信息丢失。它对胎儿心率测定和变异性分析的影响取决于所用心跳检测器的灵敏度。灵敏度定义为检测不完整胎儿QRS复合体的能力。这项工作的目的是评估所使用的产妇心电图抑制方法对正在计算的FHR信号的可靠性的影响。
  • 【稀有疾病仍然是孤儿或快乐地被收养吗?开发和使用孤儿药物的挑战。】 复制标题 收藏 收藏
    DOI:10.1111/j.1365-2125.2006.02654.x 复制DOI
    作者列表:Dear JW,Lilitkarntakul P,Webb DJ
    BACKGROUND & AIMS: :Orphan medicinal products (OMPs) are targeted at the diagnosis, prevention or treatment of rare diseases and have a special status in European law. This status brings incentives for pharmaceutical companies to invest in OMP development. The goal of the legislation is to encourage the development of more treatments for life-threatening rare disorders, but increased availability of OMPs raises important issues surrounding the public funding of very expensive treatments by national health services. In this article we review OMPs and the incentives for their development and discuss the challenges presented by funding these treatments.
    背景与目标: :孤儿药(OMP)专门用于罕见疾病的诊断,预防或治疗,在欧洲法律中具有特殊地位。这种状况为制药公司投资OMP开发带来了动力。立法的目的是鼓励开发更多威胁生命的罕见疾病的治疗方法,但是OMPs的可用性增加引起了重要问题,围绕着由国家卫生服务机构提供昂贵治疗的公共资金。在本文中,我们回顾了OMP及其发展的诱因,并讨论了为这些治疗提供资金所带来的挑战。
  • 【抗原特异性T细胞克隆在胶原疾病中的意义:用新型T细胞克隆性评估系统进行分析。】 复制标题 收藏 收藏
    DOI:10.2169/internalmedicine.36.242 复制DOI
    作者列表:Yamamoto K
    BACKGROUND & AIMS: The involvement of antigen-specific T cells in the pathogenesis of collagen diseases is still controversial. The final stages of collagen diseases are usually characterized by the dominance of inflammation. Therefore, antigen non-specific factors, such as inflammatory cytokines, probably play an important role in this process. On the other hand, the methods available to analyze the antigen-specific aspects of the immune response are still limited. Here we review our novel system of T cell clonality analysis based on the idea that activated antigen-specific T cells should form accumulating clones among the lymphocyte population. Using this method, dynamic changes of clonal accumulation of T cells could be evaluated during antigenic stimulation in vivo and in vitro. The significance of antigen-specific T cell clones in collagen diseases is discussed using data obtained from patients with rheumatoid arthritis and systemic lupus erythematosus.

    背景与目标: 抗原特异性T细胞是否参与胶原蛋白疾病的发病机制仍存在争议。胶原蛋白疾病的最后阶段通常以炎症占优势为特征。因此,抗原非特异性因子,例如炎性细胞因子,可能在此过程中起重要作用。另一方面,可用于分析免疫应答的抗原特异性方面的方法仍然有限。在这里,我们基于激活的抗原特异性T细胞应在淋巴细胞群体中形成累积克隆的想法,回顾了我们的T细胞克隆性分析的新系统。使用这种方法,可以在体内和体外抗原刺激过程中评估T细胞克隆积累的动态变化。利用类风湿性关节炎和系统性红斑狼疮患者获得的数据,讨论了抗原特异性T细胞克隆在胶原蛋白疾病中的重要性。

  • 【舒张性心力衰竭中睡眠呼吸障碍的患病率。】 复制标题 收藏 收藏
    DOI:10.1378/chest.111.6.1488 复制DOI
    作者列表:Chan J,Sanderson J,Chan W,Lai C,Choy D,Ho A,Leung R
    BACKGROUND & AIMS: OBJECTIVE:Sleep-disordered breathing (SDB) is common in congestive heart failure. While isolated diastolic heart failure (DHF) accounts for up to a third of all cases of congestive heart failure, the prevalence of SDB in DHF is unknown. We aim to determine the prevalence and characteristics of SDB in a group of patients with symptomatic DHF.

    METHODS:Twenty subjects with symptomatic DHF (New York Heart Association class II or III) and isolated diastolic dysfunction on echocardiography were assessed with lung function tests, modified sleep and health questionnaire, and overnight polysomnography. Significant SDB was defined as an apnea/hypopnea index (AHI) > 10.

    RESULTS:Thirteen female and seven male subjects (mean age, 65+/-6.0 years; mean body mass index (BMI), 28+/-3.2) were evaluated, of whom 17 (85%) had a diagnosis of hypertension. Overall sleep quality was poor, with fragmentation and frequent arousals associated with respiratory events. Fifty-five percent of the patients had significant SDB, mainly obstructive apneas. BMI and the prevalence of hypertension were similar in patients with and without SDB. The deceleration time, an index of diastolic dysfunction, was more prolonged in the group with SDB (236+/-40 ms vs 282+/-31 ms; p<0.05). As a group, a lower minimum percentage arterial oxygen saturation during sleep, but not the AHI was associated with more severe degree of diastolic dysfunction on echocardiogram, including a lower ratio between the early peak transmittal flow velocity and the late peak atrial systolic velocity (rho=0.57; p<0.05) and a prolonged isovolumic relaxation time (rho=-0.54; p<0.05).

    CONCLUSIONS:SDB is common in patients with DHF. Patients with DHF and SDB may be associated with worse diastolic dysfunction than those without SDB, although a causal relationship remains to be established.

    背景与目标: 目标:睡眠呼吸障碍(SDB)在充血性心力衰竭中很常见。尽管单纯性舒张性心力衰竭(DHF)占所有充血性心力衰竭病例的三分之一,但DDB中SDB的患病率尚不清楚。我们旨在确定一组有症状DHF患者的SDB患病率和特征。

    方法:20名有症状DHF的受试者(纽约心脏协会II级或III级)和通过肺功能检查,改良的睡眠和健康问卷以及通宵多导睡眠图评估超声心动图上孤立的舒张功能障碍。严重的SDB被定义为呼吸暂停/呼吸不足指数(AHI)>10。

    结果:13位女性和7位男性受试者(平均年龄65岁/-6.0岁;平均体重)指数(BMI)为28 /-3.2),其中17例(85%)患有高血压。总体睡眠质量较差,并伴有呼吸事件引起的支离破碎和频繁唤醒。 55%的患者患有严重的SDB,主要是阻塞性呼吸暂停。有和没有SDB的患者的BMI和高血压患病率相似。 SDB组的减速时间(舒张功能障碍的指标)更长(236 / -40 ms与282 / -31 ms; p <0.05)。作为一组,睡眠期间最低的最低动脉血氧饱和度百分比较低,但与AHI无关,其与超声心动图上更严重的舒张功能障碍程度相关,包括早期峰值传输流速和晚期峰值心房收缩速度(rho = 0.57; p <0.05)和等容舒张时间延长(rho = -0.54; p <0.05)。

    结论:SDB在DHF患者中很常见。尽管尚无因果关系,但DHF和SDB的患者可能比没有SDB的患者伴有更严重的舒张功能障碍。

  • 【内镜经胸交感神经对严重心绞痛心率变异性的影响。】 复制标题 收藏 收藏
    DOI:10.1016/s0002-9149(97)00169-0 复制DOI
    作者列表:Tygesen H,Claes G,Drott C,Emanuelsson H,Lomsky M,Lurje L,Rådberg G,Wennerblom B,Wettervik C
    BACKGROUND & AIMS: Endoscopic transthoracic sympathicotomy (ETS) is a recently developed technique to divide sympathetic nerves. ETS has been shown to improve symptoms and reduce ischemia in patients with severe angina pectoris. Low heart rate variability (HRV) in patients with ischemic heart disease carries an adverse prognosis. HRV reflects autonomic response of the heart and a shift in the sympathovagal balance towards parasympathetic dominance could be a marker of improved prognosis. HRV might also be used as an indicator of surgical success in sympathetic heart denervation. Heart rate was recorded in 57 patients before and after ETS. Registration was recorded during controlled respiration in the supine position and at tilt test over 10 minutes and spectral analysis was performed. Twenty-four hour Holter recordings were analyzed in the time domain. During the controlled setting, the high-frequency (HF) component (0.15 to 0.40 Hz) increased significantly whereas the low-frequency (LF) component (0.04 to 0.15 Hz) did not change significantly. The LF/HF ratio at tilt test was reduced from 1.3 to 0.8 (p <0.01). The time-domain analysis showed a significant increase of the mean RR interval (923 to 1,006 ms, p <0.001) and indexes reflecting parasympathetic tone also increased significantly (the root-mean square of difference measured from 24.3 to 29.5 ms, p <0.001 and the proportion of adjacent RR intervals >50% measured from 5.5% to 8.2%, p <0.01), whereas measurements reflecting global HRV did not change. In addition to relief of symptoms and reduced ischemia in severe angina pectoris, ETS caused a shift of sympathovagal balance toward parasympathetic tone. This might explain the anti-ischemic effect and have prognostic implications.

    背景与目标: 内窥镜经胸交感神经切开术(ETS)是一种新近开发的用于分割交感神经的技术。 ETS已显示可改善重度心绞痛患者的症状并减少缺血。缺血性心脏病患者的低心率变异性(HRV)会带来不利的预后。 HRV反映了心脏的自主神经反应,交感神经平衡向副交感性优势的转变可能是预后改善的标志。 HRV也可以用作交感神经去神经术手术成功的指标。 ETS前后有57例患者记录了心率。在仰卧位的受控呼吸过程中和10分钟的倾斜测试中记录配准,并进行光谱分析。在时域中分析了二十四小时的动态心电记录。在受控设置期间,高频(HF)分量(0.15至0.40 Hz)显着增加,而低频(LF)分量(0.04至0.15 Hz)没有显着变化。倾斜测试的LF / HF比从1.3降低到0.8(p <0.01)。时域分析显示平均RR间隔显着增加(923至1,006 ms,p <0.001),反映副交感神经张力的指标也显着增加(差异的均方根从24.3上升至29.5 ms,p <0.001而相邻RR间隔> 50%的比例从5.5%降至8.2%,p <0.01),而反映总体HRV的测量值没有变化。除了缓解症状和减轻严重心绞痛的局部缺血外,ETS还引起交感神经平衡向副交感神经的转变。这可能解释了抗缺血作用并具有预后意义。

  • 6 Skin diseases in workers at a perfume factory. 复制标题 收藏 收藏

    【香水厂工人的皮肤病。】 复制标题 收藏 收藏
    DOI:10.1111/j.0105-1873.2006.00881.x 复制DOI
    作者列表:Schubert HJ
    BACKGROUND & AIMS: :The aim of this study is to find out the causes of skin diseases in one-third of the staff of a perfume factory, in which 10 different perfume sprays were being manufactured. Site inspection, dermatological examination and patch testing of all 26 persons at risk with 4 perfume oils and 30 ingredients of them. The results showed 6 bottlers were found suffering from allergic contact dermatitis, 2 from irritant contact dermatitis, 12 workers showed different strong reactions to various fragrances. The main causes of allergic contact dermatitis were 2 perfume oils (12 cases) and their ingredients geraniol (12 cases), benzaldehyde(9), cinnamic aldehyde (6), linalool, neroli oil, terpenes of lemon oil and orange oil (4 each). Nobody was tested positive to balsam of Peru. Job changes for office workers, packers or printers to other rooms, where they had no longer contact with fragrances, led to a settling. To conclude, automation and replacement of glass bottles by cartridges from non-fragile materials and using gloves may minimize the risk.
    背景与目标: :这项研究的目的是在制造10种不同香水喷雾剂的香水工厂三分之一的员工中找出引起皮肤疾病的原因。用4种香精油和30种成分对所有26位处于危险中的人进行现场检查,皮肤病学检查和斑贴测试。结果显示,有6个装瓶者被发现患有过敏性接触性皮炎,有2个患有刺激性的接触性皮炎,有12名工人对各种香精表现出不同的强烈反应。过敏性接触性皮炎的主要原因是2种香料油(12例)及其成分香叶醇(12例),苯甲醛(9),肉桂醛(6),芳樟醇,橙花油,柠檬油和橙油的萜烯(每种4种) )。没有人被测试对秘鲁的香脂呈阳性。办公室工作人员,包装工或印刷工到其他不再与香料接触的房间换工作,导致定居。总而言之,用非易碎材料制成的药筒进行自动化和玻璃瓶更换,并戴上手套可以将风险降到最低。
  • 【大肠腺癌和其他大肠疾病中的雌激素受体。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Sciascia C,Olivero G,Comandone A,Festa T,Fiori MG,Enrichens F
    BACKGROUND & AIMS: :Seventy-two patients with tumor and ten with non-neoplastic colon disease were studied for the presence of estrogen receptors (ER) by three different methods. Only seven specimens (six primary adenocarcinomas and one recurrent cancer) had an ER concentration above 3 fm/mg of cytosolic protein, with no sex, age and tumor stage correlation. Our results suggest that the large bowel does not contain a cytosolic receptor for estradiol.
    背景与目标: :通过三种不同的方法研究了73例肿瘤患者和10例非肿瘤性结肠疾病患者中雌激素受体(ER)的存在。只有7个标本(6个原发性腺癌和1个复发癌)的ER浓度高于3 fm / mg的胞质蛋白,与性别,年龄和肿瘤分期无关。我们的结果表明,大肠不含有雌二醇的胞质受体。
  • 【在西西里岛东部卡塔尼亚居住的哥伦比亚和多米尼加女性性工作者中,艾滋病毒和其他性传播疾病的流行。】 复制标题 收藏 收藏
    DOI:10.1007/s10903-006-9002-1 复制DOI
    作者列表:Nigro L,Larocca L,Celesia BM,Montineri A,Sjoberg J,Caltabiano E,Fatuzzo F,Unit Operators Group.
    BACKGROUND & AIMS: INTRODUCTION:STDs are a significant cause of illness throughout the world. Female sex workers (FSWs) are commonly perceived as belonging to a social group which may engage in high-risk behaviour for acquiring or transmitting HIV and other STDs. The number of immigrant women engaged in sex work has increased in Catania, Sicily, over the last 10 years. This study aims to estimate the prevalence of HIV, HBV, HCV and syphilis among Colombian and Dominican FSWs. METHODS:In total 118 (63.78%) of the FSWs contacted in the course of the project agreed to participate in the study. All women enrolled were counselled on STDs/HIV, safer sex practices and the use of condoms. Blood samples were taken and tested for HIV, HBV, HCV and syphilis. RESULTS:Of the 118 FSWs enrolled, all were negative for both HIV and HCV infection. Two women (1.6%) were positive for hepatitis B (HbsAg). Syphilis testing by VDRL showed three positive results (2.5%), which was confirmed by TPHA. DISCUSSION:This study showed that HIV, HBV, HCV and syphilis seroprevalence among Colombian and Dominican FSWs remains low or very rare. It also indicates that these women were healthy when they arrived in Italy and that condom use with clients is high.
    背景与目标: 简介:性病是世界范围内引起疾病的重要原因。女性性工作者(FSWs)通常被认为属于一个社会群体,该群体可能会为获取或传播艾滋病毒和其他性传播疾病而从事高风险行为。在过去的十年中,西西里岛卡塔尼亚从事性工作的移民妇女人数有所增加。这项研究的目的是估计哥伦比亚和多米尼加的FS​​W中HIV,HBV,HCV和梅毒的患病率。
    方法:在该项目过程中,总共有118名(63.78%)的FSW同意参与研究。为所有入选妇女提供性传播疾病/艾滋病毒,更安全的性行为和使用安全套方面的咨询。抽取血样并测试HIV,HBV,HCV和梅毒。
    结果:在118个FSW中,所有的HIV和HCV感染均为阴性。两名女性(1.6%)的乙型肝炎(HbsAg)阳性。通过VDRL进行的梅毒测试显示三项阳性结果(2.5%),这已被TPHA证实。
    讨论:这项研究表明,哥伦比亚和多米尼加地区FSW中的HIV,HBV,HCV和梅毒血清阳性率仍然很低或非常罕见。这也表明这些妇女到达意大利后就很健康,而且与客人一起使用避孕套的比例很高。
  • 【在心肌梗死后和心力衰竭患者中使用缬沙坦。】 复制标题 收藏 收藏
    DOI:10.3317/jraas.2006.019 复制DOI
    作者列表:Liu PP,Maggioni A,Velazquez EJ
    BACKGROUND & AIMS: :Left ventricular (LV) dysfunction and/or heart failure (HF) are frequent complications of hypertension and myocardial infarction (MI), placing affected patients at increased risk of significant morbidity and premature death. Given that the renin-angiotensin-aldosterone system (RAAS) is activated and of pathophysiological importance in such patients, a strong therapeutic rationale exists to target the main effector mechanism (that is, angiotensin II [Ang II]) in order to lessen the associated morbidity and mortality burden. Angiotensin-converting enzyme (ACE) inhibitors have been shown to reduce mortality and LV dysfunction and to slow disease progression in patients with HF, including high-risk, post-MI patients. However, ACE inhibitors (ACE-Is) may not provide optimal long-term RAAS blockade (a finding that is associated with a worse prognosis) and many patients are unable to tolerate such therapy (because of troublesome dry cough, for example). In contrast, Ang II receptor blockers (ARBs) may block the RAAS more completely than ACE-Is and appear to be better tolerated. Several large-scale trials gave evaluated the efficacy of ARBs in patients with LV dysfunction and/or HF (including high-risk, post-MI patients), and have confirmed their utility as an efficacious and well-tolerated alternative to ACE-Is in this setting.
    背景与目标: :左心室(LV)功能障碍和/或心力衰竭(HF)是高血压和心肌梗塞(MI)的常见并发症,使受影响的患者罹患显着发病率和过早死亡的风险增加。鉴于肾素-血管紧张素-醛固酮系统(RAAS)已被激活并且在此类患者中具有重要的病理生理意义,因此存在针对主要效应机制(即血管紧张素II [Ang II])的强大治疗原理,以减轻相关的疾病。发病率和死亡率负担。血管紧张素转换酶(ACE)抑制剂已被证明可以降低HF患者(包括高危MI后患者)的死亡率和LV功能障碍,并减缓疾病进展。但是,ACEI(ACE-Is)可能无法提供最佳的长期RAAS阻断作用(这一发现与更坏的预后相关),并且许多患者无法忍受此类治疗(例如,由于干咳引起的麻烦)。相比之下,Ang II受体阻滞剂(ARBs)可能比ACE-Is更完全地阻断RAAS,并且似乎具有更好的耐受性。几项大规模试验评估了ARB在LV功能不全和/或HF患者(包括高风险,MI后患者)中的疗效,并证实了其作为ACE-Is的有效且耐受性良好的替代品的用途。此设置。
  • 【成人先天性心脏病患者的亚临床甲状腺功能减退症。】 复制标题 收藏 收藏
    DOI:10.1007/s00246-012-0571-6 复制DOI
    作者列表:Martínez-Quintana E,Rodríguez-González F,Nieto-Lago V
    BACKGROUND & AIMS: :Subclinical hypothyroidism usually is asymptomatic, but it can be associated with various adverse cardiologic outcomes. With the objective of gaining insight into the role of thyroid-stimulating hormone (TSH) in congenital heart abnormalities, this study measured serum TSH concentrations in different subtypes of grown-up congenital heart disease (GUCHD) patients. Serum TSH (reference range, 0.34-5.6 mIU/L), creatinine, cholesterol, C-reactive protein (CRP), N-terminal proB-type natriuretic peptide (NT-pro-BNP), and 24-h proteinuria were measured in 249 GUCHD patients. Of 24 GUCHD patients (9.6 %) with a TSH level higher than 5.6 mUI/L, nine were cyanotic (37.5 %) and seven (29.1 %) had Down syndrome. The GUCHD patients with serum TSH exceeding 5.6 mIU/L had a significantly higher level of serum NT-pro-BNP (195.1 [0.28; 5,280.3] vs 57.6 [0.00; 929.8]; p = 0.001) and CRP (0.30 [0.06; 1.87] vs 0.16 [0.00; 1.40]; p = 0.011] than those with a TSH level of 5.6 mIU/L or lower. No significant differences were found in serum creatinine, lipids, or 24-h proteinuria between the two groups. The T4 concentrations in the GUCHD patients with TSH exceeding 5.6 mIU/L were within the normal range (0.89 ± 0.23 ng/dL). In the multivariate analysis, cyanosis (odds ratio [OR], 6,399; 95 % confidence interval [CI] 2,296-17,830; p < 0.001), Down syndrome (OR, 6,208; 95 % CI, 1,963-19,636; p = 0.002), and NT-pro-BNP concentrations (OR, 1,001; 95 % CI, 1,000-1,002; p < 0.026) proved to be risk factors for TSH levels higher than 5.6 mIU/L. Because subclinical hypothyroidism entails a cardiovascular risk, the authors postulate that TSH screening should be included in the routine follow-up evaluation of GUCHD patients with cyanosis or Down syndrome.
    背景与目标: 亚临床甲状腺功能减退症通常无症状,但可能与各种不良心脏预后相关。为了深入了解甲状腺刺激激素(TSH)在先天性心脏病中的作用,本研究测量了不同类型的成年先天性心脏病(GUCHD)患者的血清TSH浓度。测量血清TSH(参考范围0.34-5.6 mIU / L),肌酐,胆固醇,C反应蛋白(CRP),N端proB型利钠肽(NT-pro-BNP)和24小时蛋白尿。 249位GUCHD患者。 TSH水平高于5.6 mUI / L的24名GUCHD患者(9.6%)中,有9名发(37.5%)和7名(29.1%)患有唐氏综合症。血清TSH超过5.6 mIU / L的GUCHD患者的血清NT-pro-BNP显着更高(195.1 [0.28; 5,280.3] vs 57.6 [0.00; 929.8]; p = 0.001)和CRP(0.30 [0.06; 1.87) [] vs. 0.16 [0.00; 1.40]; p = 0.011],TSH水平为5.6 mIU / L或更低;两组之间的血清肌酐,脂质或24小时蛋白尿无显着差异。 TSH超过5.6 mIU / L的GUCHD患者的血药浓度在正常范围内(0.89±0.23 ng / dL)。在多变量分析中,紫((比值[OR]为6,399; 95%置信区间[CI]为2,296- 17,830; p <0.001),唐氏综合症(OR,6,208; 95%CI,1,963-19,636; p = 0.002)和NT-pro-BNP浓度(OR,1,001; 95%CI,1,000-1,002; p <0.026) )被证明是TSH水平高于5.6 mIU / L的危险因素。由于亚临床甲状腺功能减退症会引起心血管疾病风险,因此作者推测TSH筛查应包括在GUCHD的常规随访评估中紫osis或唐氏综合症患者。
  • 【Cornelia de Lange综合征:149例先天性心脏病。】 复制标题 收藏 收藏
    DOI:10.1016/j.medcli.2017.03.051 复制DOI
    作者列表:Ayerza Casas A,Puisac Uriol B,Teresa Rodrigo ME,Hernández Marcos M,Ramos Fuentes FJ,Pie Juste J
    BACKGROUND & AIMS: INTRODUCTION:Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD:Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. RESULTS:A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. CONCLUSIONS:Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested.
    背景与目标: 简介:Cornelia de Lange综合征(CdLS)是由编码粘着蛋白复合物的调节蛋白或结构蛋白的基​​因突变产生的。先天性心脏病(CHD)不是该疾病的主要标准,但会影响许多人。这项研究的目的是研究CdLS患者冠心病的发生率和类型。
    材料与方法:对149例CdLS患者的心脏病学发现及其与临床和遗传变量的可能关系进行了评估。
    结果:34.9%的人患有冠心病(房间隔缺损50%,肺动脉狭窄27%,主动脉缩窄9.6%)。冠心病的存在与新生儿住院(P = .04),听力损失(P = .002),死亡率(P = .09)和多动症(P = .02)有关,在HDAC8患者中更常见( 60%),其次是NIPBL(33%)和SMC1A(28.5%)。尽管间隔缺损在NIPBL中占优势,但肺动脉狭窄在HDAC8中更常见。
    结论:CdLS患者的CHD发病率很高,根据患病基因的不同而不同,最常见的发现是房间隔缺损和肺动脉狭窄。建议对所有这些患者进行心脏检查。
  • 【进行基于社区的精神病治疗的重度精神疾病患者的口腔疾病流行率和与口腔健康相关的生活质量。】 复制标题 收藏 收藏
    DOI:10.1038/sj.bdj.2012.989 复制DOI
    作者列表:Patel R,Gamboa A
    BACKGROUND & AIMS: OBJECTIVES:To describe the prevalence of oral diseases and their impact on oral-health-related quality of life in people with severe mental illness undertaking community-based psychiatric care. METHODS:A survey was conducted at eight outpatient psychiatric care clinics in Tower Hamlets, London, UK. One hundred and twelve consecutive patients with mental illness were invited to participate in this study. They were clinically examined and asked to complete the oral health impact profile (OHIP) questionnaire. RESULTS:The response rate was 79% (n = 89); 57 (64%) males and 58 persons over 45 years of age (65%) participated in this survey. Overall OHIP score was 25.4 (95% CI 23.3, 27.4), 70 (78%) were smokers and 45 (51%) had been to the dentist in the last two years. Forty-seven (53%) respondents had caries in at least one tooth, 60 (67%) had 21 teeth and more, and 14 (16%) used dentures. Advanced periodontal treatment was indicated in 42 (55%) of patients and 52.8% (n = 47) patients reported current pain. CONCLUSION:Overall, this survey found that oral health has a great impact on patients with severe mental illness being treated in the community setting and their oral health is poorer than the national adult general population. Future research should consider the causes that relate to the poorer oral health in this population and potential health promotion mechanisms in this population to encourage an upstream approach to health.
    背景与目标: 目的:描述在进行基于社区的精神病治疗的重度精神疾病患者中口腔疾病的流行及其对口腔健康相关生活质量的影响。
    方法:在英国伦敦塔哈姆雷特市的八家门诊精神病诊所进行了一项调查。连续邀请112名精神疾病患者参加这项研究。对他们进行了临床检查,并要求他们填写口腔健康影响概况(OHIP)问卷。
    结果:回应率为79%(n = 89);男性(57%)(64%)和58岁以上的58人(65%)参加了这项调查。 OHIP总体得分为25.4(95%CI 23.3、27.4),吸烟者70(78%)和最近两年去牙医的45(51%)。 47名(53%)的被调查者的至少一颗牙齿上有龋齿; 60(67%)的人有21颗及以上的牙齿,以及14颗(16%)的假牙。 42名(55%)患者表示接受牙周治疗,目前有疼痛的患者占52.8%(n = 47)。
    结论:总体而言,该调查发现,口腔健康对在社区环境中接受治疗的严重精神疾病患者有很大影响,并且其口腔健康状况比全国成年人口人群差。未来的研究应考虑与该人群口腔健康较差的原因以及该人群中潜在的健康促进机制,以鼓励采用上游健康方法。
  • 【中草药辛集丸通过Akt / Nrf2途径保护心脏免受缺血/再灌注损伤。】 复制标题 收藏 收藏
    DOI:10.3892/mmr.2017.6732 复制DOI
    作者列表:Yuan Q,Chen R,Zheng X,Meng M,Kao Y,Liu J,Gan X,Shi M,Fu J,Jiang S,Yu H
    BACKGROUND & AIMS: :The cardioprotective drugs used for treatment against ischemia/reperfusion (MI/R) injury have been well evaluated and are considered inadequate. The Chinese herbal medicine formula, Xinji pill (XJP) has been used traditionally for the prevention and treatment of ischemic heart diseases for decades. In the present study, the cardioprotective effects of XJP against MI/R injury were assessed in vivo and its possible mechanism was examined. Male Sprague‑Dawley rats were selected for establishing an MI/R model, which was induced by ischemia for 30 min followed by 24 h reperfusion. Drugs and saline were administered intragastrically from day 14 prior to MI/R. Blood samples were collected for biochemical detection. The rats were then sacrificed and cardiac muscle tissues were harvested. The mRNA expression levels of antioxidant genes were measured by reverse transcription‑quantitative polymerase chain reaction and the protein levels were measured by western blotting. Pretreatment with XJP for 14 days protected the heart against I/R‑induced myocardial function disorder, protected against heart injury, as demonstrated by normalized serum levels of lactate dehydrogenase and creatine kinase, and suppressed oxidative stress. XJP markedly upregulated the expression of antioxidant genes, including superoxide dismutase, catalase, glutathione reductase and glutathione peroxidase, and promoted the protein expression of heme oxygenase‑1 and NFE2‑related factor 2 (Nrf2) in the heart tissues. Furthermore, Akt kinase was confirmed to be upstream of Nrf2 in the XJP treatment. LY294002, a specific inhibitor of Akt, significantly eliminated the cardioprotective effects of XJP. In conclusion, these results demonstrated that XJP exhibited notable cardioprotective properties, in which the Akt/Nrf2 signaling pathway may be involved.
    背景与目标: :用于抵抗缺血/再灌注(MI / R)损伤的心脏保护药物已得到很好的评估,被认为是不足的。几十年来,传统的中草药配方辛集丸(XJP)被用于预防和治疗缺血性心脏病。在本研究中,体内评估了XJP对MI / R损伤的心脏保护作用,并研究了其可能的机制。选择雄性Sprague-Dawley大鼠建立MI / R模型,该模型由局部缺血30分钟然后再灌注24 h诱导。从MI / R之前第14天开始,在胃内施用药物和盐水。收集血样用于生化检测。然后处死大鼠并收获心肌组织。通过逆转录定量聚合酶链反应测量抗氧化剂基因的mRNA表达水平,并通过蛋白质印迹法测量蛋白质水平。 XJP预处理14天可以保护心脏免受I / R诱导的心肌功能障碍的侵害,防止心脏受伤,如血清乳酸脱氢酶和肌酸激酶水平的正常化以及抑制氧化应激所证明的。 XJP明显上调了抗氧化基因的表达,包括超氧化物歧化酶,过氧化氢酶,谷胱甘肽还原酶和谷胱甘肽过氧化物酶,并促进了心脏组织中血红素加氧酶-1和NFE2相关因子2(Nrf2)的蛋白表达。此外,在XJP处理中,证实Akt激酶位于Nrf2的上游。 LY294002是Akt的特异性抑制剂,可显着消除XJP的心脏保护作用。总之,这些结果表明,XJP具有明显的心脏保护特性,其中可能涉及Akt / Nrf2信号传导途径。
  • 【甲状腺疾病的细针穿刺细胞学检查。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Altavilla G,Pascale M,Nenci I
    BACKGROUND & AIMS: :From 1982 to 1987, 2,433 lesions of the thyroid gland in 1,796 patients were examined by fine needle aspiration (FNA). Cytopathology classified 66.91% of the aspirates as benign, 10.76% as thyroiditis, 4.89% as suspected (unspecified) neoplasia, 1.31% as positive for malignancy and 16.11% (392) as unsatisfactory. The histologic diagnoses in 257 cases were compared with cytologic diagnoses to determine the accuracy of FNA cytology of thyroid lesions, yielding a sensitivity of 71.43%, a specificity of 100% and an accuracy of 95.09%. This data strongly supports thyroid FNA as an important preoperative diagnostic tool. Follicular carcinomas were difficult to cytologically differentiate from nonmalignant follicular neoplasms, and papillary thyroid carcinomas less than 2 cm in diameter in elderly patients were frequently misdiagnosed or diagnosed only as "suspect lesion."
    背景与目标: :从1982年到1987年,通过细针穿刺术(FNA)检查了1,796例患者的2,433例甲状腺的病变。细胞病理学将良性抽吸物分为66.91%,甲状腺炎为10.76%,疑似肿瘤(未指明)为4.89%,恶性肿瘤阳性为1.31%,不满意为16.11%(392)。将257例患者的组织学诊断结果与细胞学诊断结果进行比较,以确定FNA甲状腺病变细胞学检查的准确性,其敏感性为71.43%,特异性为100%,准确性为95.09%。该数据强烈支持甲状腺FNA作为重要的术前诊断工具。滤泡状癌很难在细胞学上与非恶性滤泡性肿瘤区分开,并且老年患者中直径小于2 cm的乳头状甲状腺癌经常被误诊或仅诊断为“可疑病变”。
  • 【在患有ALS4样运动神经元疾病的患者中评估的SETX错义变异谱。】 复制标题 收藏 收藏
    DOI:10.1007/s10048-012-0347-4 复制DOI
    作者列表:Arning L,Epplen JT,Rahikkala E,Hendrich C,Ludolph AC,Sperfeld AD
    BACKGROUND & AIMS: :Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. Great caution regarding the possible disease causation, especially of missense variations, has to be taken. Here, we evaluated the significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having ALS4. Yet, epidemiologic and in silico evidence indicates that all newly identified variations and two previously published ALS4-related missense variations (C1554G and I2547T) are most likely non-pathogenic, demonstrating the problems of interpretation of SETX missense alleles in the absence of functional assays.
    背景与目标: :senataxin(SETX)基因的突变可引起肌萎缩性侧索硬化4(ALS4),这是一种常染色体显性形式的青少年发作性肌萎缩性侧索硬化,或导致常染色体隐性共济失调并伴有2型动眼性运动失用。特别是错义的变化,必须采取。在这里,我们评估了54位怀疑患有ALS4的患者中所有先前报道的SETX错义突变以及6个新近发现的变异的重要性。然而,流行病学和计算机病学证据表明,所有新发现的变异和两个先前发布的与ALS4相关的错义变异(C1554G和I2547T)极有可能是非致病性的,这表明在缺乏功能检测的情况下,SETX错义等位基因的解释存在问题。

+1
+2
100研值 100研值 ¥99课程
检索文献一次
下载文献一次

去下载>

成功解锁2个技能,为你点赞

《SCI写作十大必备语法》
解决你的SCI语法难题!

技能熟练度+1

视频课《玩转文献检索》
让你成为检索达人!

恭喜完成新手挑战

手机微信扫一扫,添加好友领取

免费领《Endnote文献管理工具+教程》

微信扫码, 免费领取

手机登录

获取验证码
登录