BACKGROUND & AIMS: BACKGROUND:The relationship between accessibility to the full range of subspecialty care available at freestanding pediatric hospitals and organ donor management and recovery rates has not been studied. OBJECTIVE:To examine current rates of recovery of organs from children for transplantation at free-standing pediatric hospitals versus all other hospitals. METHODS:Data from the hospitals served by Mid-America Transplant Services from January 2000 to July 2003 were reviewed. Organ recovery rates from freestanding children's hospitals were compared with the rates from other types of institutions. Patients were included if their organs were considered medically suitable at the time of referral for donation. RESULTS:Overall, 66% (210/318) of the potential organs were recovered. The type of institution in which the potential donor was managed did not influence the proportion of organs recovered: 67% (96/144) at freestanding children's hospitals versus 66% (114/174) at all other hospitals. A greater proportion of livers were recovered at other donor institutions than at children's hospitals (100% vs 85%, P< or =.01). CONCLUSION:The organ recovery rate from potential pediatric donors is low. In general, this rate does not appear to be affected by the type of managing pediatric institution except for liver recovery, which favors institutions that are not freestanding children's hospitals. The low rate of recovery suggests that although suitable donors are identified, appropriate referrals are made, and families provide consent for donation, major obstacles remain to the successful recovery of organs.

背景与目标：

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: :Priority setting of health interventions is often ad-hoc and resources are not used to an optimal extent. Underlying problem is that multiple criteria play a role and decisions are complex. Interventions may be chosen to maximize general population health, to reduce health inequalities of disadvantaged or vulnerable groups, ad/or to respond to life-threatening situations, all with respect to practical and budgetary constraints. This is the type of problem that policy makers are typically bad at solving rationally, unaided. They tend to use heuristic or intuitive approaches to simplify complexity, and in the process, important information is ignored. Next, policy makers may select interventions for only political motives. This indicates the need for rational and transparent approaches to priority setting. Over the past decades, a number of approaches have been developed, including evidence-based medicine, burden of disease analyses, cost-effectiveness analyses, and equity analyses. However, these approaches concentrate on single criteria only, whereas in reality, policy makers need to make choices taking into account multiple criteria simultaneously. Moreover, they do not cover all criteria that are relevant to policy makers. Therefore, the development of a multi-criteria approach to priority setting is necessary, and this has indeed recently been identified as one of the most important issues in health system research. In other scientific disciplines, multi-criteria decision analysis is well developed, has gained widespread acceptance and is routinely used. This paper presents the main principles of multi-criteria decision analysis. There are only a very few applications to guide resource allocation decisions in health. We call for a shift away from present priority setting tools in health--that tend to focus on single criteria--towards transparent and systematic approaches that take into account all relevant criteria simultaneously.

背景与目标： : 卫生干预措施的优先级设定通常是临时性的，资源的使用没有达到最佳程度。潜在的问题是，多个标准发挥作用，决策很复杂。可以选择干预措施，以最大程度地提高总体人口健康水平，减少弱势或弱势群体的健康不平等，ad/或应对威胁生命的情况，所有这些都涉及实际和预算方面的限制。这是政策制定者通常不善于理性地、没有帮助地解决的问题。他们倾向于使用启发式或直观的方法来简化复杂性，在此过程中，重要的信息被忽略。接下来，政策制定者可能只出于政治动机选择干预措施。这表明需要合理和透明的方法来确定优先级。在过去的几十年中，已经开发了许多方法，包括循证医学，疾病负担分析，成本效益分析和公平性分析。但是，这些方法仅集中在单个标准上，而实际上，决策者需要同时考虑多个标准来做出选择。此外，它们并未涵盖与决策者相关的所有标准。因此，有必要开发一种多标准方法来确定优先级，并且最近确实已将其确定为卫生系统研究中最重要的问题之一。在其他科学学科中，多准则决策分析得到了很好的发展，得到了广泛的认可，并被常规使用。本文介绍了多准则决策分析的主要原理。只有很少的应用程序来指导健康中的资源分配决策。我们呼吁从目前的卫生优先事项设定工具 (往往侧重于单一标准) 转向透明和系统的方法，同时考虑到所有相关标准。

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: STUDY DESIGN:A cross-sectional study of the spine in 40 young adults after solid organ transplantation in childhood. OBJECTIVE:To evaluate the impact of organ transplantation and long-term immunosuppressive treatment on growing spine using magnetic resonance imaging (MRI). SUMMARY OF BACKGROUND DATA:A review of the current literature reveals no systematic evaluation of the spine after transplantation in childhood. METHODS:A total of 40 adult patients (mean age 22.1 years, range, 16.0-27.0), who received either kidney, liver, or heart transplant as children, were evaluated. Mean follow-up after transplantation was 11.2 years (range 3.0-18.0). All patients filled in a questionnaire, underwent an interview and physical examination, as well as had MRI of the spine. Standing spinal radiographs were taken from patients with a rib hump > or = 6 degrees. RESULTS:There were 8 (20%) patients who had a history of vertebral fracture. Eleven (28%) patients reported frequent back pain at rest. There were 15 (38%) patients who had scoliosis > 10 degrees (range 10 degrees -69 degrees ). On MRI, narrowed disc spaces were noted in 32 (80%) patients, and irregular endplates were noted in 24 (60%). There were 14 (35%) patients who had at least 1 compressed or wedged vertebra (> 20%). Patients treated for acute rejection had wedged vertebrae, speckled or black disc spaces, and irregular endplates more often than patients without rejections. Males had wedged vertebrae more often than females (P = 0.0067). CONCLUSIONS:Back pain, scoliosis, wedged vertebrae, and narrowed, degenerated disc spaces are common after solid organ transplantation in childhood.

背景与目标：

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。