BACKGROUND & AIMS: OBJECTIVE:To assess the prevalence of night eating syndrome (NES) and binge eating disorder (BED) and their related behavioral and psychological correlates in persons who sought bariatric surgery. RESEARCH METHODS AND PROCEDURES:A consecutive series of 215 persons with extreme obesity (82% women, 70% European American) completed the Weight and Lifestyle Inventory and a semistructured interview as part of a pre-surgery behavioral/psychological assessment. Diagnoses for NES and BED were based on graded diagnostic criteria. RESULTS:Percentages of participants who met diagnostic criteria for NES by interview were 1.9% for the strictest definition and 8.9% across all definitions of NES. After interview, full DSM-TR criteria for BED were met by 4.2%; an additional 1.4% reported binge eating at least once per week. Self-reported prevalence of NES and BED were higher. Those with NES or BED had significantly more symptoms of depression and a greater history of psychological complications than the remaining sample. DISCUSSION:The prevalence rates of NES and BED among this population of bariatric surgery candidates were lower than expected based on previous reports. Findings and hypotheses regarding lowered prevalence rates are discussed.

背景与目标： 目的：评估寻求减肥手术的人夜间进食综合征（NES）和暴饮暴食症（BED）的患病率及其相关的行为和心理关联。
研究方法和程序：连续215例极端肥胖者（82％为女性，70％为欧洲裔美国人）完成了体重和生活方式调查，并进行了半结构化访谈，作为术前行为/心理评估的一部分。 NES和BED的诊断基于分级诊断标准。
结果：通过面试满足NES诊断标准的参与者百分率是最严格的定义为1.9％，在所有NES定义中为8.9％。访谈后，满足BED的DSM-TR完整标准的比例为4.2％；另外有1.4％的人表示暴饮暴食每周至少吃一次。自我报告的NES和BED患病率较高。与其余样本相比，患有NES或BED的患者具有明显更多的抑郁症状和更大的心理并发症史。
讨论：该肥胖手术候选人人群中NES和BED的患病率低于以前的报道。讨论了关于降低患病率的发现和假设。

BACKGROUND & AIMS: :Obstructive sleep apnoea (OSA) is a complex disease entity strongly influenced by genetic factors, especially those that affect obesity and fat distribution, upper airway muscle tone, craniofacial morphology, ventilatory control and sleep, giving rise to the OSA phenotype. OSA can also be considered a metabolic syndrome which adversely affects multiple organ systems, especially the cardiovascular system and the brain. The most widely used clinical marker for the diagnosis of OSA is the apnoea-hypopnoea index, calculated by polysomnography. A percentage of 35 to 40% of its variance can be attributed to genetic factors. Therefore, the identification and elucidation of the genes implicated in the pathogenesis of OSA becomes a matter of extensive research and could lead to the development of therapeutic agents that can have a beneficial effect on the natural course of OSA.

背景与目标： 阻塞性睡眠呼吸暂停（OSA）是一种复杂的疾病实体，受到遗传因素的强烈影响，尤其是那些影响肥胖和脂肪分布，上呼吸道肌张力，颅面形态，通气控制和睡眠的因素，从而引起OSA表型。 OSA也可以被认为是一种代谢综合症，会对多种器官系统，尤其是心血管系统和大脑产生不利影响。用于诊断OSA的最广泛使用的临床指标是通过多导睡眠监测仪计算出的呼吸暂停-呼吸不足指数。其变异的35％至40％的百分比可归因于遗传因素。因此，鉴定和阐明与OSA发病机理有关的基因成为广泛研究的问题，并可能导致开发对OSA天然过程具有有益作用的治疗剂。

BACKGROUND & AIMS: :A critical review of Tietze's syndrome and the relevant literature to date is presented. The disease has been characterized as a tender, non-suppurative swelling in the upper costosternal region. The etiology and pathology of the disease are still unknown. In the past decade new knowledge concerning rheumatic diseases affecting the anterior chest wall has modified our approach to this condition. Tietze's syndrome could be more a part of seronegative disease than has been previously recognized, even if the existence of this condition as an entity cannot be totally denied.

背景与目标： ：提出了对Tietze综合征的严格审查以及迄今为止的相关文献。该疾病的特征是在肋骨上半部区域出现了一种非化脓性的非化脓性肿胀。该病的病因和病理仍然未知。在过去的十年中，有关风湿性疾病影响前胸壁的新知识改变了我们对这种情况的治疗方法。 Tietze综合征可能是血清阴性疾病的一部分，而不是先前公认的疾病，即使不能完全否认这种疾病作为一个整体的存在。

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。

BACKGROUND & AIMS: :Atypical hemolytic uremic syndrome (aHUS), is mainly present in children, who have high risks of end-stage kidney disease (ESKD), post-transplant recurrence and death. aHUS is linked to defective regulation of the complement alternative pathway (AP), with a prominent cause being mutation/inhibition of the negative regulator complement factor H (CFH). CFH function can be restored via infusion of fresh frozen plasma (FFP), a treatment that was effective for several years in a patient heterozygous for a cfh mutation, before the patient progressed to ESKD. While on dialysis, FFP was replaced with eculizumab, which blocks C5 cleavage and thus halts progression of the terminal complement pathway. Patient plasma samples collected during FFP and eculizumab treatment phases were assessed for AP activity (via erythrocyte lysis assays) and for overall complement activity (via ELISA-based screen). Assay results indicated that FFP partially restored AP regulation, an observation supported by in vitro modeling of FFP treatment using purified CFH, while eculizumab completely blocked complement activity. The same approach was used to model in vitro a potential aHUS treatment approach based on blocking the AP effector properdin (complement factor P; CFP) with an anti-properdin antibody. These results provide insights into the efficacy of aHUS treatment and highlight the usefulness of in vitro assays in monitoring and predicting therapeutic responses and testing new treatment possibilities.

背景与目标： ：非典型溶血性尿毒症综合征（aHUS）主要存在于儿童中，这些儿童罹患终末期肾脏疾病（ESKD），移植后复发和死亡的风险很高。 aHUS与补体替代途径（AP）的调控缺陷有关，其主要原因是负调控因子补体因子H（CFH）的突变/抑制。可以通过输注新鲜冷冻血浆（FFP）恢复CFH功能，这种治疗对杂散的cfh突变的患者有效了数年，在患者发展为ESKD之前。透析时，FFP被依库丽单抗替代，依古丽单抗阻止C5裂解，因此终止了末端补体途径的进程。在FFP和依库丽单抗治疗阶段收集的患者血浆样品的AP活性（通过红细胞裂解测定）和总体补体活性（通过基于ELISA的筛查）被评估。分析结果表明，FFP部分恢复了AP的调节作用，这一观察结果得到了使用纯化CFH进行FFP治疗的体外模型支持，而依库丽单抗则完全阻断了补体活性。基于使用抗备解素抗体阻断AP效应素备解素（补体因子P； CFP）的方法，使用相同的方法在体外对潜在的aHUS治疗方法进行建模。这些结果提供了对aHUS治疗功效的见解，并突出了体外测定法在监测和预测治疗反应以及测试新治疗可能性方面的有用性。

BACKGROUND & AIMS: PURPOSE:To evaluate the indications and outcomes of amniotic membrane transplantation (AMT) performed within the first 2 weeks of presentation in the management of patients with acute Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). METHODS:A retrospective chart review from January 1998 to May 2011 identified 128 SJS/TEN patients admitted to Loyola University Medical Center Burn intensive care unit. The degree of initial ocular surface inflammation was graded as mild, moderate, or severe within the first 2 weeks of admission. Patients were managed either medically or with amniotic membrane (AM). Outcomes were graded as good [best-corrected visual acuity (BCVA)>20/40], fair (BCVA 20/40 to 20/200 or with ocular surface discomfort, requiring contact lens or reconstructive surgeries), or poor (BCVA<20/200). RESULTS:Of the 182 eyes (91 patients) with documented inpatient eye examinations, 108 eyes (59.4%) had mild or no initial ocular involvement, 37 eyes (20.3%) had moderate, and 37 eyes (20.3%) had severe inflammation. Of the 29 patients (58 eyes) with greater than 1 month of follow-up, 17 patients (33 eyes) were treated with medical management and 13 patients (25 eyes) were treated with early AM. One of the 23 eyes with moderate or severe presentation treated with early AMT (4.3%) resulted in a poor outcome within 3 months compared with 8 of 23 eyes (34.8%) that were medically managed (P=0.022). CONCLUSIONS:We present the first case-control study of the use of AM in the management of acute SJS/TEN. Early use of AMT prevents severe vision loss in SJS/TEN patients with initial moderate or severe ocular surface inflammation.

背景与目标： 目的：评估在急性史蒂文斯-约翰逊综合征（SJS）和中毒性表皮坏死溶解症（TEN）患者治疗的前两周内进行羊膜移植（AMT）的适应症和结果。
方法：回顾性分析1998年1月至2011年5月的病历，确定了128名SJS / TEN患者，他们被洛约拉大学医学中心烧伤重症监护病房收治。在入院的前两周内，初期眼表炎症的程度分为轻度，中度或重度。患者接受药物治疗或羊膜（AM）治疗。结果分为好[最佳矫正视力（BCVA）> 20/40]，一般（BCVA 20/40至20/200或眼表不适，需要隐形眼镜或重建手术）或差（BCVA <20 / 200）。
结果：在有记录的住院眼睛检查的182眼（91例患者）中，有108眼（59.4％）有轻度或无初次眼部受累，有37眼（20.3％）为中度，有37眼（20.3％）有严重的炎症。在随访时间超过1个月的29例患者（58眼）中，有17例患者（33眼）接受了药物治疗，有13例患者（25眼）接受了早期AM治疗。接受早期AMT治疗的23眼中度或重度表现之一（4.3％）在3个月内导致不良结局，相比之下，经药物治疗的23眼中有8眼（34.8％）（P = 0.022）。
结论：我们提出了在急性SJS / TEN治疗中使用AM的首例病例对照研究。早期使用AMT可防止SJS / TEN患有初期中度或严重眼表炎症的患者严重视力下降。

BACKGROUND & AIMS: :Two cases of iatrogenic acquired Brown's syndrome are presented, and other causes of this disorder and its treatment are discussed. Care should be taken not to cause damage when operating in the region of the trochlea.

背景与目标： ：介绍了两例医源性获得性布朗综合征，并讨论了该病的其他原因及其治疗方法。在滑车区域操作时，应注意不要造成损坏。

BACKGROUND & AIMS: INTRODUCTION:The aim of this study was to assess population-based changes in incidence, treatment, and in short- and long-term survival of patients with acute respiratory distress syndrome (ARDS) over 23 years. MATERIALS AND METHODS:Analysis of all patients in Iceland who fulfilled the consensus criteria for ARDS in 1988-2010. Demographic variables, Acute Physiology and Chronic Health Evaluation II (APACHE II) scores and ventilation parameters were collected from hospital charts. RESULTS:The age-standardised incidence of ARDS during the study period was 7.2 cases per 100,000 person-years and was increased by 0.2 cases per year (P < 0.001). The most common causes of ARDS were pneumonia (29%) and sepsis (29%). The use of pressure-controlled ventilation became almost dominant from 1993. The peak inspiratory pressure (PIP) has significantly decreased (-0.5 cmH(2) O/year), but the peak end-expiratory pressure (PEEP) has increased (0.1 cmH(2) O/year) during the study period. The hospital mortality decreased by 1% per year (P = 0.03) during the study period, from 50% in 1988-1992 to 33% in 2006-2010. A multivariable logistic regression model revealed that higher age and APACHE II score increased the odds of hospital mortality, while a higher calendar year of diagnosis reduced the odds of mortality. This was unchanged when dominant respiratory treatment, PIP and PEEP were added to the model. The 10-year survival of ARDS survivors was 68% compared with 90% survival of a reference population (P < 0.001). CONCLUSION:The incidence of ARDS has almost doubled, but hospital mortality has decreased during the 23 years of observation. The 10-year survival of ARDS survivors is poor compared with the reference population.

背景与目标： 简介：本研究的目的是评估23年来急性呼吸窘迫综合征（ARDS）患者的发病率，治疗以及短期和长期生存的基于人群的变化。
材料与方法：分析冰岛所有在1988-2010年间符合ARDS共识标准的患者。人口统计学变量，急性生理和慢性健康评估II（APACHE II）得分和通气参数均从医院病历表中收集。
结果：研究期间ARDS的年龄标准化发病率为每100,000人年7.2例，并且每年增加0.2例（P <0.001）。 ARDS的最常见原因是肺炎（29％）和败血症（29％）。从1993年开始，几乎一直使用压力控制通气。最高吸气压力（PIP）明显降低了（-0.5 cmH（2）O /年），但是最高呼气末压力（PEEP）却增加了（0.1 cmH （2）O /年）。在研究期间，医院死亡率每年下降1％（P = 0.03），从1988-1992年的50％下降到2006-2010年的33％。多变量logistic回归模型显示，较高的年龄和APACHE II评分增加了医院死亡率的可能性，而较高的诊断日历年降低了死亡率的可能性。当将主要呼吸治疗，PIP和PEEP添加到模型中时，情况没有改变。 ARDS幸存者的10年生存率为68％，而参考人群的90％生存（P <0.001）。
结论：在23年的观察中，ARDS的发病率几乎翻了一番，但医院死亡率却下降了。与参考人群相比，ARDS幸存者的10年生存率很低。

BACKGROUND & AIMS: BACKGROUND:Early and late dumping are complications of gastric bypass surgery. Early dumping occurs within an hour after eating, when the emptying of food into the small intestine triggers rapid fluid shifts into the intestinal lumen and the release of gastrointestinal hormones, resulting in gastrointestinal and vasomotor symptoms. Late dumping occurs between 1 and 3 hours after carbohydrate ingestion and is caused by an exaggerated insulin release, resulting in hypoglycemia. Almost no data are currently available on the prevalence of early and late dumping or their impact on health-related quality of life (QoL). OBJECTIVES:To study the prevalence of early and late dumping in a large population of patients having undergone a primary Roux-en-Y gastric bypass (RYGB) and its effect on QoL. SETTING:Cross-sectional study at a single bariatric department in the Medical Center Leeuwarden, The Netherlands between 2008 and 2011. METHODS:In 2013, this descriptive cohort study approached by email or post all patients who underwent a primary RYGB in the setting between 2008 and 2011 in one hospital. These patients were asked to fill in standardized questionnaires measuring their QoL (RAND-36), anxiety and depression (HADS), fatigue (MFI-20) and any disease specific indicators of early and late dumping syndrome. RESULTS:The questionnaire was completed and returned by 351 of 613 patients (57.1%) and 121 nonobese volunteers. Participants were mostly female (80%), aged 42 (40-54 years), with an excess weight loss of 76.8% [IQR 61-95] after RYGB surgery 2.3 [ IQR 1.6-3.4] years earlier. Self-reported complaints of moderate to severe intensity suggestive of early and late dumping were present in 18.8% and 11.7% of patients, respectively. Patients with early and late dumping demonstrated significantly lower scores on the RAND-36 and HADS compared with patients without dumping. No differences were seen in the MFI-20 scores between patients with or without early and late dumping. CONCLUSION:In this descriptive cohort, self-reported complaints suggestive of early and late dumping of moderate-to-severe intensity were, respectively, 18.8% and 11.7% in a cohort after primary gastric bypass surgery. These complaints were associated with markedly reduced health-related QoL.

背景与目标： 背景：早期和晚期倾倒是胃搭桥手术的并发症。进食后一小时内会发生早期倾倒，这是因为食物排入小肠会触发液体快速进入肠腔并释放胃肠激素，从而导致胃肠道和血管舒缩症状。延迟进食发生在摄入碳水化合物后的1至3个小时之间，并且是由于胰岛素释放过大引起的，从而导致低血糖症。目前几乎没有关于早期和晚期倾倒的流行率及其对健康相关生活质量（QoL）的影响的数据。
目的：研究大量初次Roux-en-Y胃搭桥术（RYGB）患者的早期倾倒和晚期倾倒的患病率及其对生活质量的影响。
地点：2008年至2011年，在荷兰吕伐登医学中心的单个减肥科进行横断面研究。
方法：2013年，该描述性队列研究通过电子邮件或将所有在2008年至2011年之间在某医院接受原发性RYGB治疗的患者纳入研究。这些患者被要求填写标准化的问卷，以测量他们的生活质量（RAND-36），焦虑和抑郁（HADS），疲劳（MFI-20）以及早期和晚期倾倒综合征的任何疾病特异性指标。
结果：613例患者中的351例（占57.1％）和121例非肥胖志愿者完成了问卷调查并返回。参与者主要是女性（80％），42岁（40-54岁），RYGB手术2.3年[IQR 1.6-3.4]年后，体重减轻了76.8％[IQR 61-95]。自我报告的中度至重度暗示早期和晚期倾倒的投诉分别占患者的18.8％和11.7％。与没有倾倒的患者相比，早期和晚期倾倒的患者在RAND-36和HADS上的得分明显较低。在有或没有早期和晚期倾倒的患者之间，MFI-20评分均未见差异。
结论：在该描述性队列中，自我报告的关于初次胃旁路手术后队列中早期至中度至重度倾倒的投诉分别为18.8％和11.7％。这些投诉与健康相关的生活质量显着降低有关。

BACKGROUND & AIMS: :We describe three patients with Werner's syndrome (WS), two of whom had been mistakenly diagnosed as having scleroderma. We would like to discuss briefly the importance of differentiation of these two disorders from each other.

背景与目标： ：我们描述了3例Werner综合征（WS）患者，其中2例被误诊为硬皮病。我们想简短地讨论区分这两种疾病的重要性。

BACKGROUND & AIMS: :This study assessed the metabolic effects of aripiprazole and pimozide in pediatric Tourette syndrome, a neurodevelopmental condition characterized by multiple motor and phonic tics. Patients receiving aripiprazole (n = 25) or pimozide (n = 25) were compared with medication-free patients (n = 25). Body mass index, glycemia, triglyceridemia, and cholesterolemia were monitored at baseline and 12 and 24 months after commencing treatment. The aripiprazole group demonstrated significant increases in cholesterolemia. The pimozide group demonstrated significant increases in glycemia. Both groups demonstrated elevations in triglyceridemia not significantly different from those in unmedicated control subjects. The effect of aripiprazole on cholesterol was apparent after 12 months, but leveled off during year 2 of treatment. Longitudinal studies are required to evaluate the full extent of glycemic alterations with pimozide. Both agents appear relatively safe for use in pediatric Tourette syndrome. These findings will help guide medication selection in patients with specific medical vulnerabilities.

背景与目标： ：这项研究评估了阿立哌唑和匹莫西德在小儿抽动秽语综合征中的代谢作用，小儿抽动秽语综合征是一种以多种运动和抽动抽动为特征的神经发育疾病。将接受阿立哌唑（n = 25）或匹莫齐特（n = 25）的患者与无药物治疗的患者（n = 25）进行比较。在基线以及开始治疗后12个月和24个月时监测体重指数，血糖，甘油三酸酯和胆固醇血症。阿立哌唑组显示胆固醇水平显着增加。匹莫齐特组显示血糖显着增加。两组均显示甘油三酯血症的升高与未接受药物治疗的受试者的升高没有显着差异。阿立哌唑对胆固醇的作用在12个月后就很明显，但在治疗的第2年趋于平稳。需要进行纵向研究以评估吡莫司德对血糖变化的全面程度。两种药物在小儿Tourette综合征中使用都相对安全。这些发现将有助于指导具有特定医疗脆弱性的患者选择药物。

BACKGROUND & AIMS: :The purpose of this investigation was to evaluate the effectiveness of a behavioral treatment package to reduce chronic sleep problems in children with Angelman Syndrome. Participants were five children, 2-11 years-of-age. Parents maintained sleep diaries to record sleep and disruptive nighttime behaviors. Actigraphy was added to provide independent evaluations of sleep-wake activity. The treatment package targeted the sleep environment, the sleep-wake schedule, and parent-child interactions during sleep times. Treatment was introduced sequentially, across families, and evaluated in an interrupted time series, multiple baseline design. Data show that prior to treatment, baseline rates of nighttime disruptive behavior were stable or increasing and none of the participants were falling to sleep independently. With the introduction of treatment, all participants quickly learned to initiate sleep independently. Gradual reductions were reported in disruptive behaviors and these improvements were sustained over time. Results were replicated with two participants when treatment was withdrawn and reinstated. Changes in disruptive bedtime behaviors and in sleep onset were found to be statistically significant. Parents indicated high satisfaction with the treatment. A behavioral treatment package was found to be effective with five children with long histories of significant sleep-related behavior problems. These results suggest that behavioral treatment may be a reasonable way to address sleep problems in some children with Angelman Syndrome.

背景与目标： ：这项研究的目的是评估行为治疗方案以减少Angelman综合征患儿的慢性睡眠问题的有效性。参加者为5个年龄在2-11岁之间的儿童。父母保留睡眠日记以记录睡眠和夜间行为。增加了书法，以提供对睡眠觉醒活动的独立评估。该治疗方案针对睡眠环境，睡眠唤醒计划以及睡眠期间的亲子互动。在各个家庭中按顺序引入治疗方法，并在中断的时间序列和多个基线设计中进行评估。数据显示，在治疗之前，夜间破坏行为的基线率稳定或上升，并且没有参与者独立入睡。随着治疗的引入，所有参与者很快学会了独立开始睡眠。据报道，破坏性行为逐渐减少，并且随着时间的推移，这些改善持续存在。退出治疗并恢复治疗时，两名参与者重复了结果。发现破坏性的就寝时间行为和睡眠发作的变化在统计学上是显着的。父母对治疗表示高度满意。发现行为治疗一揽子方法对五个有悠久的重大睡眠相关行为问题病史的儿童有效。这些结果表明，行为治疗可能是解决某些Angelman综合征儿童睡眠问题的合理方法。

BACKGROUND & AIMS: :Hereditary cancer due to pathological mutations in the mismatch repair gene family is now known as Lynch syndrome and affects at least 1 in 1,000 people, resulting in a 30-50% cancer risk most often involving the colorectum and endometrium. Annual or biennial colonoscopy reduces cancer deaths and many offer gynaecological surveillance, but most other associated cancers are not amenable to early detection. As microsatellite instability testing and tumour immunohistochemistry become routine, case finding will improve. Our recent demonstration that 600 mg aspirin per day for at least 2 years reduces the cancer burden by 63% after a 3-year lag period reinforces the need to identify gene carriers and introduce them to chemoprevention. CaPP3 will test different doses of aspirin in at least 3,000 gene carriers to determine whether low-dose aspirin is as effective.

背景与目标： ：由于失配修复基因家族中的病理突变而引起的遗传性癌症现在被称为Lynch综合征，它影响至少1,000人中的1个人，导致30-50％的癌症风险最常涉及结直肠癌和子宫内膜癌。一年一次或每两年一次的结肠镜检查可以减少癌症死亡，并且许多可以提供妇科检查，但是大多数其他相关的癌症不适合早期发现。随着微卫星不稳定性测试和肿瘤免疫组织化学成为常规方法，病例发现将得到改善。我们最近的研究表明，在3年的滞后期之后，每天至少2年每天600 mg阿司匹林可以减少63％的癌症负担，从而增强了识别基因载体并将其引入化学预防的需求。 CaPP3将在至少3,000个基因携带者中测试不同剂量的阿司匹林，以确定低剂量阿司匹林是否有效。

BACKGROUND & AIMS: BACKGROUND:Accuracy of bone marrow (BM) blast count in low-risk myelodysplastic syndromes (MDS) still remains a challenge though it is essential for prognosis. We investigated whether the enumeration of CD34+ myeloid cells by flow cytometry immunophenotyping (FCI) could be used as a consistent parameter for clinical MDS studies. METHODS:Six clinical centers entered the study and information on their FCI protocols was recorded. Sixty-seven flow cytometry listmodes from BM samples of patients with low-risk MDS with <5% BM blasts were exchanged among participants in two different rounds. Interlaboratory variations on the quantification of CD34+ myeloid cells were calculated and strategies to solve differences were evaluated. RESULTS:An overall "very good" agreement on CD34+ cell count among participants (intraclass correlation coefficient = 0.720) was observed, but agreement was "low" in 22 files. No single parameter could fully explain all discrepancies, but 3 technical issues were identified as relevant: the use of the CD34/CD45/CD117/HLA-DR mAb combination, acquisition of ≥50,000 events and a low percentage of debris/aggregates. The frequency of discordant results increased with the accumulation of pitfalls (none, 16%; 1 pitfall, 40%; 2 pitfalls, 83%; P = 0.006). Finally, the use of a common gating strategy for analysis increased the percentage of files with "very good" agreement to 100%. CONCLUSIONS:Prevention of specific technical pitfalls is mandatory to reach a good reproducibility of CD34+ cell count among centers. These recommendations set the basis for laboratory standardization and enable the use of CD34+ cell enumeration as additional information in low-risk MDS patients. © 2017 International Clinical Cytometry Society.

背景与目标： 背景：尽管对于预后至关重要，但低危骨髓增生异常综合征（MDS）中骨髓（BM）blast计数的准确性仍然是一个挑战。我们调查通过流式细胞仪免疫表型（FCI）的CD34髓细胞计数是否可以用作临床MDS研究的一致参数。
方法：六个临床中心参加了研究，并记录了有关其FCI方案的信息。在两个不同的阶段中，参与者之间交换了来自BM blast小于5％的低风险MDS患者的BM样本中的67种流式细胞术列表模式。计算了实验室间对CD34髓样细胞定量的变异，并评估了解决差异的策略。
结果：观察到参与者的CD34细胞计数总体“非常好”一致性（类内相关系数= 0.720），但在22个文件中一致性“低”。没有一个单一的参数可以完全解释所有差异，但是确定了3个相关的技术问题：CD34 / CD45 / CD117 / HLA-DR mAb组合的使用，≥50,000个事件的发生和碎片/聚集体的百分比低。结果不一致的频率随着陷阱的累积而增加（无，16％； 1个陷阱，40％； 2个陷阱，83％； P = 0.006）。最后，使用通用门控策略进行分析将“非常好”协议的文件百分比提高到100％。
结论：预防特定技术陷阱是强制性的，以实现中心之间CD34细胞计数的良好再现性。这些建议为实验室标准化奠定了基础，并使CD34细胞计数可作为低危MDS患者的补充信息。 ©2017国际临床细胞计量学会。

BACKGROUND & AIMS: :The goal of our study was to investigate different aspects of sleep, namely the sleep-wake cycle and sleep stages, in the vegetative state/unresponsive wakefulness syndrome (VS/UWS), and minimally conscious state (MCS). A 24-h polysomnography was performed in 20 patients who were in a UWS (n=10) or in a MCS (n=10) because of brain injury. The data were first tested for the presence of a sleep-wake cycle, and the observed sleep patterns were compared with standard scoring criteria. Sleep spindles, slow wave sleep, and rapid eye movement sleep were quantified and their clinical value was investigated. According to our results, an electrophysiological sleep-wake cycle was identified in five MCS and three VS/UWS patients. Sleep stages did not always match the standard scoring criteria, which therefore needed to be adapted. Sleep spindles were present more in patients who clinically improved within 6 months. Slow wave sleep was present in eight MCS and three VS/UWS patients but never in the ischemic etiology. Rapid eye movement sleep, and therefore dreaming that is a form of consciousness, was present in all MCS and three VS/UWS patients. In conclusion, the presence of alternating periods of eyes-open/eyes-closed cycles does not necessarily imply preserved electrophysiological sleep architecture in the UWS and MCS, contrary to previous definition. The investigation of sleep is a little studied yet simple and informative way to evaluate the integrity of residual brain function in patients with disorders of consciousness with possible clinical diagnostic and prognostic implications.

背景与目标： ：我们的研究目标是研究处于营养状态/无反应性清醒综合症（VS / UWS）和最低意识状态（MCS）的睡眠的不同方面，即睡眠-觉醒周期和睡眠阶段。在20例因脑损伤而处于UWS（n = 10）或MCS（n = 10）的患者中进行了24小时多导睡眠监测。首先测试数据是否存在睡眠-觉醒周期，并将观察到的睡眠模式与标准评分标准进行比较。对睡眠纺锤体，慢波睡眠和快速眼动睡眠进行了量化，并研究了它们的临床价值。根据我们的结果，在5例MCS和3例VS / UWS患者中发现了电生理睡眠-觉醒周期。睡眠阶段并不总是符合标准的评分标准，因此需要进行调整。在6个月内临床好转的患者中，睡眠纺锤体的比例更高。慢波睡眠存在于8例MCS和3例VS / UWS患者中，但从未出现在缺血性病因中。所有MCS和3名VS / UWS患者都出现了快速的眼球运动睡眠，并因此梦想成一种意识意识。总之，睁眼/闭眼周期交替周期的存在并不一定意味着在UWS和MCS中保留了电生理睡眠结构，这与先前的定义相反。对睡眠的研究是一项经过研究的简单方法，但它为评估意识障碍患者的残余脑功能的完整性提供了可能，该方法可能具有临床诊断和预后意义。