BACKGROUND & AIMS: :Restless legs syndrome (RLS) is a common condition that is difficult to diagnose. However, once correctly diagnosed, its management is straightforward and evidence-based. The purpose of this article is to familiarise clinicians with both the symptoms and diagnostic criteria for RLS and to elucidate secondary and often curable causes of this prevalent condition. There is also a concise review of its pathophysiology and current management strategies. The authors hope this article will raise awareness of this condition among clinicians and in doing so improve the quality of life for the patients affected by it.

背景与目标： : 不宁腿综合征 (RLS) 是一种很难诊断的常见疾病。然而，一旦被正确诊断，它的管理是直接的和基于证据的。本文的目的是使临床医生熟悉RLS的症状和诊断标准，并阐明这种普遍情况的继发性和通常可治愈的原因。还简要回顾了其病理生理学和当前的管理策略。作者希望这篇文章能提高临床医生对这种疾病的认识，并以此改善受其影响的患者的生活质量。

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背景与目标： -2

BACKGROUND & AIMS: OBJECTIVE:Patients with severe traumatic or burn injury and a mouse model of burn injury were studied early after injury to determine the relation of plasma endotoxin (lipopolysaccharide [LPS]) to the production of proinflammatory cytokines and subsequent resistance to infection.

SUMMARY BACKGROUND DATA:Elevated levels of plasma LPS have been reported in patients after serious injury. It has been suggested that circulating LPS may be a trigger for increased proinflammatory cytokine production and may play a role in the septic syndromes seen in a substantial portion of such patients. Yet, despite multiple reports of leakage of LPS from the gut and bacterial translocation after injury in animal models, there is little direct evidence linking circulating LPS with production of inflammatory mediators.

METHODS:The authors studied serial samples of peripheral blood from 10 patients with 25% to 50% surface area burns and 8 trauma patients (injury Severity Score, 25-57). Patients were compared with 18 healthy volunteers. The study was focused on the first 10 days after injury before the onset of sepsis or the systemic inflammatory response syndrome. Plasma samples were assayed for LPS, and adherent cells from the blood were studied for basal and LPS-stimulated production of tumor necrosis factor-alpha (TNF-alpha), interleukin-1 beta (IL-1 beta), and interleukin-6 (IL-6). The correlation of increased plasma LPS with TNF-alpha production was studied as was the association of increased plasma LPS and increased TNF-alpha production with subsequent septic complications. We also studied a mouse model of 25% burn injury. Burn mice were compared with sham burn control subjects. Plasma samples were assayed at serial intervals for LPS, and adherent cells from the spleens were studied for basal- and LPS-stimulated production of TNF-alpha, IL-1 beta, and IL-6. Expression of the messenger RNAs for IL-1 beta and TNF-alpha also was measured. The relation of increased TNF-alpha production with mortality from a septic challenge, cecal ligation and puncture (CLP), was determined. Finally, the effect of administration of LPS to normal mice on subsequent mortality after CLP and on TNF-alpha production was studied.

RESULTS:Elevated plasma LPS (> 1 pg/mL) was seen in 11 of the 18 patients within 10 days of injury and in no normal control subjects. In this period, patients as compared with control subjects showed increased stimulated production of TNF-alpha, IL-1 beta, and IL-6. Increased TNF-alpha production was not correlated with elevated plasma LPS in the same patients. Neither increased plasma LPS nor increased TNF-alpha production early after injury was correlated with subsequent development of systemic inflammatory response syndrome or sepsis in the patients. Burn mice, as compared with sham burn control subjects, showed elevated plasma LPS levels chiefly in the first 3 days after injury. Increased stimulated production of proinflammatory cytokines by adherent splenocytes from the burn mice also was seen at multiple intervals after injury and did not correlate with mortality from CLP. Increased production of TNF-alpha and IL-1 beta was associated with increased expression of messenger RNAs for these cytokines. Finally, two doses of 1 ng LPS administered 24 hours apart to normal mice had no effect on mortality from CLP performed 7 days later nor on the production of TNF-alpha at the time of CLP.

CONCLUSIONS:These findings call into question the idea that circulating LPS is the trigger for increased proinflammatory cytokine production, systemic inflammatory response syndrome, and septic complications in injured patients.

背景与目标： 目标 : 严重创伤或烧伤患者和烧伤小鼠模型在损伤后早期进行了研究，以确定血浆内毒素 (脂多糖 [LPS]) 与促炎细胞因子的产生以及随后对感染的抵抗力之间的关系。
摘要背景数据 : 据报道，严重损伤后患者血浆LPS水平升高。已经提出，循环LPS可能是促炎性细胞因子产生增加的触发因素，并且可能在此类患者的大部分脓毒症综合征中起作用。然而，尽管有多份动物模型中LPS从肠道泄漏和细菌移位的报道，但几乎没有直接证据将循环LPS与炎症介质的产生联系起来。
方法 : 作者研究了10例25% 至50% 表面积烧伤患者和8例创伤患者的外周血系列样本 (损伤严重程度评分，25-57)。将患者与18名健康志愿者进行比较。该研究的重点是败血症或全身性炎症反应综合征发作前的受伤后10天。测定血浆样品中的LPS，并研究血液中的贴壁细胞的基础和LPS刺激的肿瘤坏死因子-α (TNF-α)，interleukin-1 β (IL-1 β) 和interleukin-6 (IL-6) 的产生。研究了血浆LPS增加与TNF-α 产生的相关性，以及血浆LPS增加和TNF-α 产生增加与随后的败血症并发症的关联。我们还研究了25% 烧伤的小鼠模型。将烧伤小鼠与假烧伤对照组进行比较。以连续间隔测定血浆样品中的LPS，并研究来自脾脏的贴壁细胞的基础和LPS刺激的TNF-α，IL-1 β 和IL-6的产生。还测量了IL-1 β 和TNF-α 的信使rna的表达。确定了TNF-α 产生增加与败血性攻击，盲肠结扎和穿刺 (CLP) 造成的死亡率之间的关系。最后，研究了向正常小鼠施用LPS对CLP后后续死亡率和TNF-α 产生的影响。
结果 : 18例患者中有11例在受伤后10天内发现血浆LPS升高 (> 1 pg/mL)，而没有正常对照。在此期间，与对照组相比，患者表现出TNF-α，IL-1 β 和IL-6的刺激产生增加。在同一患者中，TNF-α 产生的增加与血浆LPS升高无关。损伤后早期血浆LPS的增加和TNF-α 的产生均与患者全身炎症反应综合征或败血症的后续发展无关。与假烧伤对照组相比，烧伤小鼠的血浆LPS水平主要在受伤后的前3天升高。烧伤小鼠的粘附脾细胞刺激促炎细胞的产生也在受伤后的多个间隔内增加，并且与CLP的死亡率无关。TNF-α 和IL-1 β 的产生增加与这些细胞因子的信使rna的表达增加有关。最后，对正常小鼠相隔24小时施用两次1 ng LPS对7天后进行的CLP的死亡率没有影响，也没有对CLP时TNF-α 的产生影响。
结论 : 这些发现使人们质疑循环LPS是导致受伤患者促炎性细胞因子产生增加，全身性炎症反应综合征和败血症并发症的诱因。

BACKGROUND & AIMS: :Sjögren's syndrome is an autoimmune disease of the exocrine glands characterized by the leading symptoms of keratoconjunctivitis and stomatitis sicca based on a complex pathogenesis. The prevalence is about 0.5-1%; primary Sjögren's syndrome is differentiated from secondary Sjögren's syndrome associated with other autoimmune disorders. The diagnosis is established by the presence of subjective complaints and objective evidence of sicca symptoms, anti-Ro(SSA)/La(SSB) antibodies, and/or focal lymphocytic infiltration of the glandular tissue. In addition to the typical sicca symptomatology, which is managed symptomatically by substitution and stimulation therapy, some patients exhibit extraglandular manifestations. Complaints involving the musculoskeletal system and inner ear dominate and are treated by the rheumatologist. The indication for base therapy is tailored to individual needs, but the efficacy of this approach has not been established in studies. About 5-10% of the patients with primary Sjögren's syndrome develop a B-cell non-Hodgkin's lymphoma. The disease requires interdisciplinary management including, among others, ophthalmologists, dentists, and otorhinolaryngologists, depending on the clinical picture.

背景与目标： : 干燥综合征是一种外分泌腺的自身免疫性疾病，其特征是角结膜炎和口炎的主要症状基于复杂的发病机理。患病率约为0.5-1%; 原发性干燥综合征与与其他自身免疫性疾病相关的继发性干燥综合征不同。诊断是通过主观主诉和sicca症状，抗Ro(SSA)/La(SSB) 抗体和/或腺组织的局灶性淋巴细胞浸润的客观证据来确定的。除了通过替代和刺激疗法对症治疗的典型sicca症状外，一些患者还表现出结肠外表现。涉及肌肉骨骼系统和内耳的主诉，由风湿病专家治疗。基础治疗的适应症是根据个人需求量身定制的，但是这种方法的疗效尚未在研究中确定。约5-10% 的原发性干燥综合征患者发展为b细胞非霍奇金淋巴瘤。该疾病需要跨学科的管理，其中包括眼科医生，牙医和耳鼻喉科医生，具体取决于临床情况。

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： : 我们报告了一名具有独特特征组合的患者，包括小头畸形; 智力低下; 额叶发育不良; 垂体发育不良; 甲状腺功能减退; 普遍脱发; 单个上颌中切牙; 牛角牙症; 正中腭嵴; 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)。异常星座似乎代表了一个连续的基因综合征，至少部分是由TGIF和负责遗传性低毛丝菌病的基因缺失引起的。我们患者的表型不同于其他报告的del患者 (18p)。可能的解释包括 (1) 不同缺失区域的影响，(2) 由接近的基因引起的位置效应，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：

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。