BACKGROUND & AIMS: :We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation.

背景与目标： ：我们报告的患者具有独特的功能组合，包括小头畸形；智力低下;额叶发育不良；垂体发育不全甲状腺功能减退;普遍性脱发;单上颌中切牙；牛头牙症pa中纵向开槽的指甲；和脊柱侧弯。发现他的不平衡核型为45，XY，der（15; 18）（q10; q10）。异常群似乎代表着一种连续的基因综合征，这种综合征至少部分地是由于TGIF的缺失和负责遗传性单毛发生的基因所致。我们患者的表型与其他报道的del（18p）患者不同。可能的解释包括（1）不同缺失区域的作用；（2）由附近基因引起的位置作用；或（3）由染色体易位引起的不同基因的中断。

BACKGROUND & AIMS: PURPOSE OF REVIEW:Postthrombotic syndrome (PTS) is the most common complication of deep venous thrombosis (DVT). Identifying which patients are at high risk of developing PTS would help improve the management of patients with DVT and allow physicians to provide patients with individualized information on their expected prognosis. This review discusses the knowledge gained from key studies over the last decade on the incidence and determinants of PTS, with special emphasis on published studies from the last 2 years. RECENT FINDINGS:About a third to half of DVT patients will develop PTS, in most cases within 1-2 years of acute DVT. Important risk factors for PTS appear to be ipsilateral recurrence of DVT, poor quality of initial anticoagulation for the treatment of DVT and increased body mass index. SUMMARY:Preventing DVT recurrence by providing adequate intensity and duration of anticoagulation for the initial DVT and using effective thromboprophylaxis in high-risk settings is likely to reduce the frequency of PTS. Despite some advances in identifying risk factors for PTS, however, it is still not possible to reliably predict an individual patient's risk of developing PTS after an episode of DVT. Further studies of clinical determinants and biological markers of increased risk of PTS are needed to ultimately improve long-term prognosis after DVT.

背景与目标： 审查目的：血栓后综合症（PTS）是深静脉血栓形成（DVT）最常见的并发症。识别哪些患者发生PTS的风险较高，将有助于改善DVT患者的管理，并允许医生向患者提供有关其预期预后的个性化信息。这篇综述讨论了过去十年中从关键研究中获得的有关PTS发生率和决定因素的知识，其中特别强调了过去两年中已发表的研究。
最近的发现：大约三分之一至一半的DVT患者会发展为PTS，大多数情况下是在急性DVT的1-2年内。 PTS的重要危险因素似乎是DVT同侧复发，治疗DVT的初始抗凝药质量差和体重指数增加。
摘要：通过为初始DVT提供足够的强度和抗凝持续时间并在高危环境中使用有效的血栓预防措施来预防DVT复发，可能会降低PTS的发生频率。尽管在确定PTS危险因素方面取得了一些进展，但是仍然无法可靠地预测DVT发作后个别患者发生PTS的风险。需要进一步研究增加PTS风险的临床决定因素和生物学标志物，以最终改善DVT后的长期预后。

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，美国制定了国家风疹疫苗接种计划。随着该计划的成功，在32年后，风疹的报告数量达到了创纪录的低水平。为了评估在美国消除风疹和先天性风疹综合症（CRS）的成就，使用了7种流行病学标准。分析了1998年至2004年向国家法定传染病监视系统报告的风疹病例和1998年至2004年向国家先天性风疹综合症登记处报告的CRS病例。在1998-2000年期间，报告的风疹病例中位数为272，而在2001-2004年期间，报告的风疹病例中位数为13。风疹的发病率显着下降，从1998年的0.1 / 100,000人口下降到2004年的0.005 / 100,000人口自2001年以来，已有5例CRS婴儿被报告为-3出生于2001年，1例出生于2003年，1例出生于2004年。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，必须保持当前的策略。

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： ：有充分的证据表明过度生长疾病（例如Beckwith-Wiedemann综合征）与瘤形成的关系。在患有单纯性偏增生的个体中也观察到增加的癌症风险。我们批判性地审查了Beckwith-Wiedemann综合征和孤立的半定量增生中肿瘤监测的证据，并提出了当地的实践指南。

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： 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。