• 【具有cblJ先天性维生素B12代谢错误的非典型患者的症状迟发: 通过外显子组测序揭示的诊断和新突变。】 复制标题 收藏 收藏
    DOI:10.1016/j.ymgme.2012.10.005 复制DOI
    作者列表:Kim JC,Lee NC,Hwu PW,Chien YH,Fahiminiya S,Majewski J,Watkins D,Rosenblatt DS
    BACKGROUND & AIMS: :Inborn errors of vitamin B(12) (cobalamin) metabolism are characterized by decreased production of active cobalamin cofactors and subsequent deficiencies in the activities of methionine synthase and methylmalonyl-CoA mutase. With the recent discovery of the cblJ defect in two patients with phenotypes mimicking the cblF defect, there are nine genes known to be involved in cobalamin metabolism. The new defect is caused by mutations in the ABCD4 gene, encoding an ABC transporter. At the moment, there is no clear distinction between the cblJ and cblF defects either clinically or biochemically, and both defects result in blocks in the transport of cobalamin from the lysosome to the cytoplasm. A patient was diagnosed with hyperhomocysteinemia and methylmalonic aciduria at the age of 8 years. Incorporations of both [(14)C]propionate and [(14)C]methyltetrahydrofolate in cultured fibroblasts were within reference ranges and thus too high to allow for complementation analysis. We observed decreased synthesis of both adenosylcobalamin and methylcobalamin and accumulation of unmetabolized cyanocobalamin. Exome sequencing was performed to identify causative mutation(s) and Sanger re-sequencing was performed to validate segregation of mutation in the family. By this approach, a homozygous mutation, c.423C>G, in the ABCD4 gene was identified. Here, we report the successful application of exome sequencing for diagnosis of a rare inborn error of vitamin B(12) metabolism in a patient whose unusual presentation precluded diagnosis using standard biochemical and genetic approaches. The patient represents only the third known patient with the cblJ disorder.
    背景与目标: : 维生素b (12) (钴胺素) 代谢的先天性错误的特征是活性钴胺素辅因子的产生减少,随后蛋氨酸合酶和甲基丙二酰辅酶a变位酶的活性不足。随着最近在两名表型模仿cblF缺陷的患者中发现cblJ缺陷,已知有9个基因与钴胺素代谢有关。新的缺陷是由编码ABC转运蛋白的ABCD4基因突变引起的。目前,无论是在临床上还是在生化上,cblJ和cblF缺陷之间都没有明确的区别,这两个缺陷都会导致钴胺素从溶酶体到细胞质的转运受到阻碍。一名患者在8岁时被诊断出患有高同型半胱氨酸血症和甲基丙二酸尿症。培养的成纤维细胞中 [(14)C] 丙酸酯和 [(14)C] 甲基四氢叶酸的加入都在参考范围内,因此太高,无法进行互补分析。我们观察到腺苷钴胺和甲钴胺的合成减少以及未代谢的氰钴胺的积累。进行外显子组测序以鉴定致病突变 (s),并进行了Sanger重新测序以验证家族中突变的分离。通过这种方法,在ABCD4基因中发现了一个纯合突变,c.423C>G。在这里,我们报告了外显子组测序在诊断罕见的先天性维生素b (12) 代谢错误中的成功应用,该患者的异常表现无法使用标准的生化和遗传学方法进行诊断。该患者仅代表第三位已知的cblJ疾病患者。
  • 【非典型溶血性尿毒症综合征的监测和建模治疗。】 复制标题 收藏 收藏
    DOI:10.1016/j.molimm.2012.10.044 复制DOI
    作者列表:Heinen S,Pluthero FG,van Eimeren VF,Quaggin SE,Licht C
    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。
  • 【炎症性假单胞菌中的非典型基质细胞-一例报告。】 复制标题 收藏 收藏
    DOI: 复制DOI
    作者列表:Kamat RN,Amarapurkar AD
    BACKGROUND & AIMS: :Atypical stromal cells have been reported in inflammatory lesions of the gastrointestinal tract. We report a case of ulcerative colitis with pseudopolyps, histology of which showed bizarre stromal cells. These atypical stromal cells simulate malignant cells and pose a diagnostic problem for surgical pathologists. It is therefore important to recognize these benign stromal cells as reactive thereby reducing unnecessary surgery.
    背景与目标: : 据报道,胃肠道炎性病变中有非典型基质细胞。我们报告了一例带有假性息肉的溃疡性结肠炎,其组织学显示出奇怪的基质细胞。这些非典型基质细胞模拟恶性细胞,并为外科病理学家带来诊断问题。因此,重要的是要认识到这些良性基质细胞具有反应性,从而减少不必要的手术。
  • 【人前列腺非典型增生的免疫组织学特征。】 复制标题 收藏 收藏
    DOI:10.1007/BF00295846 复制DOI
    作者列表:Chou P,Ray V,Shaw M,Rubenstein M,Guinan P
    BACKGROUND & AIMS: :In an effort to better distinguish the morphologic relationship of atypical hyperplasia of the prostate to benign prostatic hypertrophy and prostatic cancer, 43 prostate specimens were analyzed with ten immunohistologic markers. Two cytokeratin antibodies appeared useful (Cyto M and Cyto P, with the latter slightly more discriminatory). In summary, it appears that atypical hyperplasia is immunohistopathologically related to both benign prostatic hypertrophy and prostatic cancer, having characteristics of both.
    背景与目标: : 为了更好地区分前列腺非典型增生与良性前列腺肥大和前列腺癌的形态学关系,对43个前列腺标本进行了10个免疫组织学标记分析。两种细胞角蛋白抗体似乎有用 (cytom和cytop,后者更具歧视性)。总而言之,非典型增生似乎与良性前列腺肥大和前列腺癌在免疫组织学上均有关,具有两者的特征。
  • 【由于技术原因,在capnograms的第三阶段初期出现非典型上升。】 复制标题 收藏 收藏
    DOI:10.1111/aas.12026 复制DOI
    作者列表:Chon JY,Kang JM
    BACKGROUND & AIMS: :We sporadically experienced three paediatric cases of atypical upswing at the initial part of phase III in the capnograms via side-stream capnometer immediately following endotracheal intubation and mechanical ventilation. No fault was found in the monitor or anaesthetic system including breathing circuits, carbon dioxide (CO2 ) sampling tube, water trap, and unidirectional valves. The upsurge of CO2 disappeared with increasing the respiratory rate; however, it reappeared with decreasing the respiratory rate and vice versa. We experimentally reproduced the phenomenon of overshooting CO2 measurement after the luer lock connection of the sample gas line at the water trap had been unscrewed a little bit.
    背景与目标: : 我们在气管插管和机械通气后立即通过侧流二氧化碳计在二氧化碳图的III期初期偶尔经历了3例非典型上升的儿科病例。在监护仪或麻醉系统 (包括呼吸回路,二氧化碳 (CO2) 采样管,集水器和单向阀) 中未发现故障。二氧化碳的激增随着呼吸频率的增加而消失; 然而,它随着呼吸频率的降低而再次出现,反之亦然。我们通过实验再现了在疏水阀上的样品气体管线的luer锁连接稍微拧开后的CO2测量超调现象。
  • 【自闭症谱系条件下的非典型基本运动运动学。】 复制标题 收藏 收藏
    DOI:10.1093/brain/awt208 复制DOI
    作者列表:Cook JL,Blakemore SJ,Press C
    BACKGROUND & AIMS: :Individuals with autism spectrum conditions have difficulties in understanding and responding appropriately to others. Additionally, they demonstrate impaired perception of biological motion and problems with motor control. Here we investigated whether individuals with autism move with an atypical kinematic profile, which might help to explain perceptual and motor impairments, and in principle may contribute to some of their higher level social problems. We recorded trajectory, velocity, acceleration and jerk while adult participants with autism and a matched control group conducted horizontal sinusoidal arm movements. Additionally, participants with autism took part in a biological motion perception task in which they classified observed movements as 'natural' or 'unnatural'. Results show that individuals with autism moved with atypical kinematics; they did not minimize jerk to the same extent as the matched typical control group, and moved with greater acceleration and velocity. The degree to which kinematics were atypical was correlated with a bias towards perceiving biological motion as 'unnatural' and with the severity of autism symptoms as measured by the Autism Diagnostic Observation Schedule. We suggest that fundamental differences in movement kinematics in autism might help to explain their problems with motor control. Additionally, developmental experience of their own atypical kinematic profiles may lead to disrupted perception of others' actions.
    背景与目标: : 患有自闭症谱系疾病的人在理解和对他人做出适当反应方面存在困难。此外,它们还显示出对生物运动的感知受损以及运动控制方面的问题。在这里,我们调查了自闭症患者是否以非典型的运动学特征运动,这可能有助于解释知觉和运动障碍,并且原则上可能会导致他们的一些更高层次的社会问题。我们记录了轨迹,速度,加速度和急动,而自闭症成年参与者和匹配的对照组进行了水平正弦臂运动。此外,自闭症参与者参加了一项生物运动感知任务,他们将观察到的运动分类为 “自然” 或 “非自然”。结果表明,自闭症患者的运动具有非典型运动学; 他们没有以与匹配的典型对照组相同的程度最小化急动,并且以更大的加速度和速度移动。运动学的非典型程度与将生物运动视为 “不自然” 的偏见以及自闭症诊断观察时间表所衡量的自闭症症状的严重程度相关。我们建议自闭症运动运动学的根本差异可能有助于解释他们在运动控制方面的问题。此外,他们自己的非典型运动学特征的发展经验可能会导致对他人行为的感知中断。
  • 【儿童人群中意义不明的非典型鳞状细胞。管理和与成年人口比较的意义。】 复制标题 收藏 收藏
    DOI:10.1159/000332790 复制DOI
    作者列表:Rader AE,Lazebnik R,Arora CD,Franklin J,Abdul-Karim FW
    BACKGROUND & AIMS: OBJECTIVE:To determine the significance of an atypical squamous cells of undetermined significance (ASCUS) diagnosis in patients 18 years or younger.

    STUDY DESIGN:From June 1994 to June 1995, 630 cervicovaginal smears were performed on patients 18 years or younger (mean age 16.4, range 14-18) at University Hospitals of Cleveland. Of these patients, 69 (10.9%) were diagnosed with ASCUS or ASCUS with a qualifying statement. Follow-up cervicovaginal smears, biopsies and charts were reviewed for a 12-18-month period following the initial diagnosis of ASCUS.

    RESULTS:The study population was sexually active: 63% were gravid, 21% were multigravid, 68% had a history of sexually transmitted diseases (STDs), and 32% had multiple STDs. Follow-up cervicovaginal smears or biopsies were obtained on 46 patients (32 cervicovaginal smears and 14 biopsies/endocervical curettage cases). Mild to moderate dysplasia was identified in 21.6% of patients (10.8% on cervicovaginal smears and 10.8% on biopsies), and a repeat diagnosis of ASCUS was given in 37%. In patients with a repeat diagnosis of ASCUS, a follow-up cervicovaginal smear or biopsy revealed dysplasia in an additional 13%. The overall rate of dysplasia was 34.7%.

    CONCLUSION:Regardless of age, the diagnosis of ASCUS in a sexually active patient population has significant implications. Furthermore, we recommend that these patients be managed the same way as high-risk adult patients.

    背景与目标: 目的 : 确定18岁或18岁以下患者中意义不明的非典型鳞状细胞 (ASCUS) 诊断的意义。
    研究设计 : 从1994年6月到1995年6月,在克利夫兰大学医院对18岁或18岁以下 (平均年龄16.4岁,范围14-18岁) 的患者进行了630宫颈阴道涂片检查。在这些患者中,69名 (10.9% 名) 被诊断为ASCUS或具有合格陈述的ASCUS。在最初诊断为ASCUS后,对12-18个月的随访宫颈阴道涂片,活检和图表进行了回顾。
    结果 : 研究人群性活跃: 63% 人怀胎,21% 人多怀胎,68% 有性传播疾病 (std) 史,32% 有多个std。对46例患者 (32例宫颈阴道涂片和14例活检/宫颈刮除术病例) 进行了宫颈阴道涂片或活检。在21.6% 患者中发现轻度至中度不典型增生 (10.8% 宫颈阴道涂片检查,10.8% 活检),并在37% 中重复诊断ASCUS。在重复诊断为ASCUS的患者中,随访的宫颈阴道涂片或活检显示出另一13% 的不典型增生。发育不良的总体发生率为34.7%。
    结论 : 无论年龄大小,在性活跃的患者人群中诊断ASCUS都具有重大意义。此外,我们建议对这些患者的管理方式与高危成人患者相同。
  • 【一例报告: 与心包和右心房相关的巨大心脏非典型脂肪瘤。】 复制标题 收藏 收藏
    DOI:10.1186/s12872-019-1221-1 复制DOI
    作者列表:Wang X,Yu X,Ren W,Li D
    BACKGROUND & AIMS: BACKGROUND:Among primary cardiac tumors, atypical lipoma is very rare. In particular, cases with lipomas in both the pericardium and the atria are even rare. CASE PRESENTATION:We report the case of a 49-year-old male patient presented to our department because of chest pain. Echocardiography revealed two large masses in both the pericardium and the right atrium. Then the tumors were completely resected and the histopathological examination revealed atypical lipoma. The patient recovered well without any complication and discharged from hospital. CONCLUSIONS:We report a very rare case of a huge atypical lipomas located on the pericardium and right atrium. These tumors were easily detected by echocardiography and final diagnosed after surgical resection and pathological examination.
    背景与目标:
  • 【新型冠状病毒肺炎的肺外和非典型临床表现。】 复制标题 收藏 收藏
    DOI:10.1002/jmv.26157 复制DOI
    作者列表:Abobaker A,Raba AA,Alzwi A
    BACKGROUND & AIMS: :The novel coronavirus (SARS-CoV2) has led to an outbreak of multiple cases of pneumonia in Wuhan city in December 2019. The disease caused by this virus was named coronavirus disease 2019 or "COVID-19", which was declared by the World Health Organization as a global pandemic in March 2020. It typically presents with respiratory symptoms and febrile illness. However, there are few reported extrapulmonary and atypical presentations, such as hemoptysis, cardiac, neurological, gastrointestinal, ocular, and cutaneous manifestations, as well as venous and arterial thrombosis. Lack of awareness of these presentations might lead to misdiagnosis, delayed diagnosis, and isolation of suspected patients which increases the risk of transmission of infection between patients and doctors. All these issues will be discussed in this review.
    背景与目标: : 新型冠状病毒 (SARS-CoV2) 导致2019年12月武汉市爆发多例肺炎病例。该病毒引起的疾病被命名为冠状病毒病2019或新型冠状病毒肺炎 ”,被世界卫生组织宣布为2020年3月全球大流行。它通常表现为呼吸道症状和发热性疾病。然而,很少有报道的肺外和非典型表现,例如咯血,心脏,神经,胃肠道,眼部和皮肤表现,以及静脉和动脉血栓形成。缺乏对这些表现的认识可能会导致误诊,延迟诊断和可疑患者的隔离,从而增加患者与医生之间传播感染的风险。所有这些问题都将在本次审查中讨论。
  • 【幼儿意外摄入拟除虫菊酯: 近乎致命的非典型表现和成功康复。】 复制标题 收藏 收藏
    DOI:10.3389/fped.2019.00542 复制DOI
    作者列表:Pallavidino M,Arango Uribe D,Baskaran S,Saqib A,Elmesserey M,Onsy A,Fathi EM,Fink C,Ramaiah AKH
    BACKGROUND & AIMS: :We are reporting a case of pyrethroid poisoning with atypical presentation in a 21-month-old toddler who was transferred to us from a peripheral center. Signs and symptoms at presentation were predominantly of cardiopulmonary dysfunction contrary to more common presenting features of gastrointestinal and neurological impairment. The reason for this seems to be the aspiration pneumonitis as a consequence of vomiting induced by parents at home, rather than the toxin itself even though a rather rapid progression of lung injury does not rule out the possibility. He had developed decreased level of consciousness and increased work of breathing after ingestion, which had progressed to Acute Respiratory Distress Syndrome, septic shock, and multi organ failure. He even had a brief cardiac arrest with Return of Spontaneous Circulation after 5 min of cardiopulmonary resuscitation, immediately after arrival at our unit, which seemed more likely to be a consequence of inappropriate management during transfer of the child. In addition to antibiotics and vasopressors, he required high frequency oscillatory ventilation and prone positioning initially, and lung-protective conventional ventilation later. His cardiopulmonary status improved gradually and he was successfully extubated after 12 days. Other organ systems also showed complete recovery. Even though Magnetic Resonance Imaging of brain done a few days after cardiac arrest showed features suggestive of hypoxic-ischemic encephalopathy he showed complete neurological recovery. He was thriving well at three-month follow-up with no neurological deficits, good exercise tolerance, and normal renal and liver function. Atypical presentation of pyrethroid poisoning is associated with significant morbidities and there seems to no reliable parameters in children to identify the risk of the same. Considering that there is no specific antidote, prompt, and aggressive supportive therapy is necessary for a favorable outcome. This case highlights several important aspects in the care of the pediatric patient after ingestion of insecticides. First, attempt to induce emesis, especially outside of a healthcare facility is not only ineffective but also highly dangerous, and should not be done. Second, unstable patients require inter and intrahospital transfer by experienced and trained personnel; and lastly, management for these complex and atypical cases should be done as early as possible in a center which is equipped to provide high level of circulatory and ventilatory support while prioritizing neuro-protective measures, and neurologic recovery and rehabilitation.
    背景与目标: : 我们报告了一名21个月大的小孩从外围中心转移到我们的拟除虫菊酯中毒,表现不典型。表现时的体征和症状主要是心肺功能障碍,与胃肠道和神经功能障碍的更常见表现特征相反。造成这种情况的原因似乎是由于父母在家中呕吐而引起的吸入性肺炎,而不是毒素本身,尽管肺损伤的快速发展并不排除这种可能性。摄入后,他的意识水平下降,呼吸工作增加,并发展为急性呼吸窘迫综合征,败血性休克和多器官衰竭。在到达我们的单位后,他甚至在心肺复苏5分钟后立即出现了短暂的心脏骤停,并恢复了自发循环,这似乎更可能是在儿童转移过程中管理不当的结果。除抗生素和血管升压药外,他最初需要高频振荡通气和俯卧位,后来需要肺保护性常规通气。他的心肺状况逐渐改善,并在12天后成功拔管。其他器官系统也显示出完全恢复。即使在心脏骤停后几天进行的脑部磁共振成像显示出提示缺氧缺血性脑病的特征,他仍显示出完全的神经功能恢复。他在三个月的随访中表现良好,没有神经功能缺损,运动耐受性良好,肾脏和肝脏功能正常。拟除虫菊酯中毒的非典型表现与严重的发病率有关,在儿童中似乎没有可靠的参数来确定同样的风险。考虑到没有特定的解毒剂,需要及时和积极的支持治疗才能获得良好的结果。该病例突出了摄入杀虫剂后儿科患者护理中的几个重要方面。首先,试图诱发呕吐,尤其是在医疗机构之外,不仅无效,而且非常危险,不应这样做。其次,不稳定的患者需要由经验丰富和训练有素的人员进行院内转移; 最后,应对这些复杂和非典型病例的管理应尽早在一个中心进行,该中心应提供高水平的循环和通气支持,同时优先考虑神经保护措施以及神经系统恢复和康复。
  • 【患有非典型溶血性尿毒症综合征的儿童: 是否有停止依库珠单抗的理由?】 复制标题 收藏 收藏
    DOI:10.5414/CN109841 复制DOI
    作者列表:Kersnik Levart T
    BACKGROUND & AIMS: -2
    背景与目标: -2
  • 【改善儿童服用抗精神病药的心脏代谢监测。】 复制标题 收藏 收藏
    DOI:10.1089/cap.2017.0034 复制DOI
    作者列表:Cotes RO,Fernandes NK,McLaren JL,McHugo GJ,Bartels SJ,Brunette MF
    BACKGROUND & AIMS: OBJECTIVES:This study evaluated changes in cardiometabolic monitoring for children and adolescents who were prescribed an antipsychotic medication in a state mental health system before and after a quality improvement intervention. METHODS:The intervention included education for prescribers, auditing on metabolic monitoring, and feedback to mental health center leaders regarding their monitoring. Research staff extracted yearly data on cardiometabolic monitoring from randomly selected community mental health center records before and after the intervention. Pre- and postintervention changes in monitoring were assessed with chi-squared tests. RESULTS:Evidence of past year monitoring increased: for glucose 18.9%-42.1% (χ2 = 6.75, p < 0.001), for triglycerides 13.5%-31.0% (χ2 = 4.54, p = 0.033), for cholesterol 13.5%-33.1% (χ2 = 5.48, p = 0.019), and for weight 67.6%-84.1% (χ2 = 5.21, p = 0.022). Rates of monitoring for blood pressure and waist circumference increased but not significantly. In both years studied, weight was obtained most frequently and waist circumference was obtained least frequently. CONCLUSIONS:Monitoring rates significantly improved for four out of six parameters evaluated, but overall monitoring rates remained low at the end of the study period. Prescriber education with audit and feedback may improve cardiometabolic monitoring rates, but research is needed to evaluate barriers to monitoring in children.
    背景与目标:
  • 【对关键核贩运成分的功能分析揭示了寄生虫发病机理所需的非典型Ran网络。】 复制标题 收藏 收藏
    DOI:10.1111/j.1365-2958.2008.06419.x 复制DOI
    作者列表:Frankel MB,Knoll LJ
    BACKGROUND & AIMS: :Protozoan parasites represent major public health challenges. Many aspects of their cell biology are distinct from their animal hosts, providing potential therapeutic targets. Toxoplasma gondii is a protozoan parasite that contains a divergent regulator of chromosome condensation 1 (TgRCC1) that is required for virulence and efficient nuclear trafficking. RCC1 proteins function as a guanine exchange factor for Ras-related nuclear protein (Ran), an abundant GTPase responsible for the majority of nucleocytoplasmic transport. Here we show that while there are dramatic differences from well-conserved RCC1 proteins, TgRCC1 associates with chromatin, interacts with Ran and complements a mammalian temperature-sensitive RCC1 mutant cell line. During the investigation of TgRCC1, we observed several unprecedented phenotypes for TgRan, despite a high level of sequence conservation. The cellular distribution of TgRan is found throughout the parasite cell, whereas Ran in late branching eukaryotes is predominantly nuclear. Additionally, T. gondii tolerates at least low-level expression of dominant lethal Ran mutants. Wild type parasites expressing dominant negative TgRan grew similarly to wild type in standard tissue culture conditions, but were attenuated in serum-starved host cells and mice. These growth characteristics paralleled the TgRCC1 mutant and highlight the importance of the nuclear transport pathway for virulence of eukaryotic pathogens.
    背景与目标: : 原生动物寄生虫是主要的公共卫生挑战。他们的细胞生物学的许多方面与他们的动物宿主不同,提供了潜在的治疗靶标。弓形虫是一种原生动物寄生虫,含有一种不同的染色体凝聚调节剂1 (TgRCC1),这是毒力和有效核贩运所必需的。RCC1蛋白是Ras相关核蛋白 (Ran) 的鸟嘌呤交换因子,Ras相关核蛋白是一种丰富的GTPase,负责大部分核质转运。在这里,我们表明,尽管保守的RCC1蛋白存在显着差异,但TgRCC1与染色质缔合,与Ran相互作用并补充哺乳动物温度敏感的RCC1突变细胞系。在TgRCC1的研究过程中,尽管序列保守性很高,但我们观察到了TgRan的几种前所未有的表型。在整个寄生虫细胞中发现了TgRan的细胞分布,而在晚期分支真核生物中Ran主要是核的。此外,弓形虫至少可以耐受显性致死Ran突变体的低水平表达。在标准组织培养条件下,表达显性负TgRan的野生型寄生虫的生长与野生型相似,但在血清饥饿的宿主细胞和小鼠中减弱。这些生长特征与TgRCC1突变体平行,并强调了核转运途径对真核病原体毒力的重要性。
  • 14 Atypical primary carcinoid tumour of the skin. 复制标题 收藏 收藏

    【皮肤的非典型原发性类癌。】 复制标题 收藏 收藏
    DOI:10.1111/j.1600-0560.2006.00502.x 复制DOI
    作者列表:Eloy-Garcia Carrasco C,Benguigui Benadiva J,Martinez Garcia S,Sanz Trelles A,Palacios S
    BACKGROUND & AIMS: :We present a new case of a primary carcinoid tumour of the skin. The mitotic index (4/10 HPF) warrants classification of this case as atypical. The patient was a 58-year-old woman with a 1-year history of a mass on the scalp. Literature review showed this to be only the seventh case of primary carcinoid tumour of the skin. Importantly, the evolution has been favourable in all seven tumours, with a mean follow-up of 2.5 years for the previous six cases. Although the number of cases is too small to draw definitive conclusions, information to date suggests that this type of tumour can be expected to have a benign behaviour, despite the presence in some cases of criteria suggestive of uncertainty, such as the presence of mitosis.
    背景与目标: : 我们提出了一个新的皮肤原发性类癌肿瘤病例。有丝分裂指数 (4/10 HPF) 保证将这种情况归类为非典型。该患者是一名58岁的女性,有1年的头皮肿块病史。文献综述显示,这仅是皮肤原发性类癌的第七例。重要的是,所有七个肿瘤的演变都是有利的,前六个病例的平均随访时间为2.5年。尽管病例数量太少,无法得出明确的结论,但迄今为止的信息表明,尽管在某些情况下存在暗示不确定性的标准,例如存在有丝分裂。
  • 【精神分裂症和非典型精神病的磁共振成像发现。】 复制标题 收藏 收藏
    DOI:10.1007/s007020170046 复制DOI
    作者列表:Hayashi T,Hotta N,Andoh T,Mori M,Fukatsu N,Suga H
    BACKGROUND & AIMS: :The differences among MRI findings were studied in schizophrenic psychoses. The schizophrenics and atypical psychotics had significant reductions in bilateral hippocampal volumes compared to controls, but the two patient groups did not differ from each other. As for ventricle volume, the schizophrenics showed significantly larger temporal horns and third ventricle than normal controls, whereas atypical psychotics did not. Moreover, the left temporal horn in the schizophrenics was significantly larger than that seen in the atypical psychotics. By cluster analysis, schizophrenics and atypical psychotics were found to have a tendency to be distributed in different groups. These results might be considered to support the classification of schizophrenic psychoses into schizophrenia and atypical psychoses.
    背景与目标: : 研究了精神分裂症精神病患者MRI表现之间的差异。与对照组相比,精神分裂症患者和非典型精神病患者的双侧海马体积显着减少,但两个患者组之间没有差异。至于心室体积,精神分裂症患者的颞角和第三心室明显大于正常对照组,而非典型精神病患者则没有。此外,精神分裂症患者的左颞角明显大于非典型精神病患者的左颞角。通过聚类分析,发现精神分裂症和非典型精神病患者有分布在不同群体中的趋势。这些结果可能被认为支持将精神分裂症精神病分为精神分裂症和非典型精神病。

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