BACKGROUND & AIMS: :In 1969, the United States established its national rubella vaccination program. With the success of the program, 32 years later, reports of rubella reached record low numbers. To assess the achievement of elimination of rubella and congenital rubella syndrome (CRS) in the United States, 7 epidemiological criteria were used. Rubella cases reported to the National Notifiable Diseases Surveillance System from 1998 through 2004 and CRS cases reported to the National Congenital Rubella Syndrome Registry from 1998 through 2004 were analyzed. During 1998-2000, the median number of reported rubella cases was 272, whereas, during 2001-2004, the median number reported was 13. The incidence of rubella decreased significantly, from 0.1/100,000 population in 1998 to 0.005/100,000 population in 2004. Since 2001, 5 infants with CRS have been reported--3 were born in 2001, 1 was born in 2003, and 1 was born in 2004. The epidemiological evidence strongly supports the claim that rubella is no longer endemic in the United States. To prevent future rubella outbreaks and CRS cases, current strategies must be maintained.

背景与目标： : 1969年，美国建立了国家风疹疫苗接种计划。随着该计划的成功，32年后，风疹的报道达到了历史新低。为了评估在美国消除风疹和先天性风疹综合征 (CRS) 的成就，使用了7个流行病学标准。分析了向国家法定疾病监测系统报告的风疹病例1998年2004年和向国家先天性风疹综合征登记1998年2004年报告的CRS病例。在1998-2000年期间，报告的风疹病例的中位数为272，而在2001-2004年期间，报告的中位数为13。风疹的发病率从0.1/100,000人口1998年下降到0.005/100,000人口2004年。自2001年以来，已报告5例CRS婴儿-3例2001年出生，1例2003年出生，1例2004年出生。流行病学证据强烈支持风疹在美国不再流行的说法。为了防止未来的风疹暴发和CRS病例，必须维持当前的策略。

BACKGROUND & AIMS: :There is strong evidence for an association between overgrowth disorders such as Beckwith-Wiedemann syndrome and the development of neoplasia. An increased cancer risk has also been observed in individuals with isolated hemihyperplasia. We critically review the evidence for tumour surveillance in Beckwith-Wiedemann syndrome and isolated hemihyperplasia and suggest local practice guidelines.

背景与目标： : 有强有力的证据表明，Beckwith-Wiedemann综合征等过度生长性疾病与肿瘤的发展之间存在关联。在孤立的半增生个体中也观察到癌症风险增加。我们严格审查了Beckwith-Wiedemann综合征和孤立性半增生中肿瘤监测的证据，并提出了当地实践指南。

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：

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，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征，它会对多个器官系统 (尤其是心血管系统和大脑) 产生不利影响。诊断OSA最广泛使用的临床标志物是通过多导睡眠图计算的呼吸暂停-低通气指数。其方差的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已成为广泛研究的问题，并可能导致开发可对OSA自然过程产生有益作用的治疗剂。

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综合征的重要评论和迄今为止的相关文献。该疾病的特征是在上胸骨区域的压痛，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，有关影响前胸壁的风湿性疾病的新知识改变了我们对这种情况的治疗方法。即使不能完全否认这种情况的存在，Tietze综合征也可能比以前认识到的更多是血清阴性疾病的一部分。

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：

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，这些儿童具有终末期肾脏疾病 (ESKD)，移植后复发和死亡的高风险。aHUS与补体替代途径 (AP) 的缺陷调节有关，主要原因是负调节因子补体因子H (CFH) 的突变/抑制。可以通过输注新鲜的冷冻血浆 (FFP) 来恢复CFH功能，该治疗在患者进展为ESKD之前，对因cfh突变而杂合的患者有效数年。在透析时，FFP被eculizumab取代，eculizumab阻断C5裂解，从而阻止末端补体途径的进展。评估在FFP和ecolizumab治疗阶段收集的患者血浆样品的AP活性 (通过红细胞溶解测定) 和总补体活性 (通过基于ELISA的筛选)。测定结果表明，FFP部分恢复了AP调节，这一观察结果得到了使用纯化CFH的FFP治疗的体外建模的支持，而eculizumab完全阻断了补体活性。使用相同的方法在体外模拟潜在的aHUS治疗方法，该方法基于用抗properdin抗体阻断AP效应子properdin (补体因子P; CFP)。这些结果提供了对aHUS治疗功效的见解，并强调了体外测定在监测和预测治疗反应以及测试新的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：

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，并讨论了该疾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：

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：

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： : 我们描述了三名Werner综合征 (WS) 患者，其中两名被错误诊断为硬皮病。我们想简要讨论一下将这两种疾病相互区分的重要性。

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齐特在小儿抽动秽语综合征中的代谢作用，抽动秽语综合征是一种以多种运动和语音抽动为特征的神经发育状况。将接受阿立哌唑 (n = 25) 或匹莫齐特 (n = 25) 的患者与无药物患者 (n = 25) 进行比较。在基线以及开始治疗后12和24个月监测体重指数，血糖，甘油三酸酯血症和胆固醇血症。阿立哌唑组显示胆固醇血症显着增加。匹莫齐特组显示血糖显着增加。两组的甘油三酯血症升高与未用药的对照组无显着差异。阿立哌唑对胆固醇的影响在12个月后明显，但在治疗的第2年趋于平稳。需要纵向研究来评估匹莫齐特的血糖改变的全部程度。两种药物在小儿抽动秽语综合征中使用似乎相对安全。这些发现将有助于指导具有特定医疗脆弱性的患者的药物选择。

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在减少Angelman综合征儿童慢性睡眠问题方面的有效性。参与者为5名2-11岁的儿童。父母维护睡眠日记以记录睡眠和破坏性夜间行为。增加了活动描记法，以提供对睡眠-觉醒活动的独立评估。治疗包针对睡眠环境，睡眠-觉醒时间表以及睡眠时间内的亲子互动。治疗是按顺序引入的，跨家庭，并在中断的时间序列，多基线设计中进行评估。数据显示，在治疗之前，夜间破坏性行为的基线率稳定或增加，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启动睡眠。据报道，破坏性行为逐渐减少，这些改善随着时间的推移而持续。当撤回治疗并恢复治疗时，两名参与者重复了结果。发现破坏性就寝行为和睡眠发作的变化具有统计学意义。父母对治疗表示高度满意。发现行为治疗方案对五名长期患有严重睡眠相关行为问题的儿童有效。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： : 由于错配修复基因家族的病理突变引起的遗传性癌症现在被称为Lynch综合征，至少1,000人中有1人受到影响，导致30-50% 的癌症风险最常涉及结直肠和子宫内膜。每年或两年一次的结肠镜检查可减少癌症死亡，并且许多提供妇科监测，但大多数其他相关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，病例发现将得到改善。我们最近的证明，每天600毫克阿司匹林持续至少2年，在3年的滞后期后，癌症负担减轻了63%，这加强了鉴定基因携带者并将其引入化学预防的必要性。CaPP3将在至少3,000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同样有效。