Abdominal tumors in patients with neurofibromatosis type I: Genotype-phenotype relationships

BackgroundGastrointestinal stromal tumors have been detected in 25% of the necropsies performed on NF1 patients, but have been reported only in 7% of NF1 patients in the largest series. Such data imply an important gap between the true presence of tumors and those diagnosed. Few genotype-phenotype relationships have been described but to date none referring to abdominal tumors.ObjectivesEvaluate retrospectively the efficacy of a regular and proactive follow-up of NF1 patients to early diagnose abdominal tumors and report their mutations.MethodsCohort study performed between 2010 and 2020, with 43 NF1 adult patients followed at our Dermatology department.ResultsEight abdominal tumors were diagnosed in six patients, meaning that 14% of the followed patients developed an abdominal tumor. Five patients (83%) were asymptomatic. Five (83.3%) had a family history of NF1 with abdominal tumors (patients 1,2 and 3,4,5 were relatives).ConclusionsAlthough currently gastrointestinal routine screening investigations for asymptomatic patients are not recommended in the guidelines, the family aggregation in our series suggests it should be considered a close follow-up of the relatives of a patient with an NF1-related abdominal tumor. Also, for the first time, two mutations [c.2041C > T (p.Arg681Ter) and c.4537C > T (p.Arg1513*)] have been associated with family aggregation of abdominal tumors in NF1 patients.     

异牡荆素对非小细胞性肺癌细胞自我更新和凋亡的影响

目的研究异牡荆素(ISO)对非小细胞性肺癌(NSCLC)细胞的影响和潜在的机制。方法将A549和H1650细胞分别分为空白组、低剂量实验组(4μmol·L^-1 ISO)和高剂量实验组(16μmol·L^-1 ISO)。用噻唑蓝法检测NSCLC细胞活性,用肿瘤球形成实验检测NSCLC细胞的细胞球形成率,用Western blot法检测NSCLC细胞凋亡、自我更新、无翅型MMTV整合位点家族/β-连环蛋白(Wnt/β-catenin)信号通路相关蛋白的表达水平。结果与空白组比较,低、高剂量实验组中A549和H1650细胞在24,48和72 h的细胞活性均显著降低。低、高剂量实验组和空白组中A549细胞的细胞球形成率分别为(4.18±0.45)%,(2.01±0.67)%和(6.02±0.57)%,切割的半胱氨酸蛋白酶-3相对表达量分别为0.24±0.08,1.25±0.13和0.06±0.07,SRY相关高迁移率族盒蛋白-2相对表达量分别为0.49±0.04,0.25±0.03和1.00±0.09,Kruppel样因子4相对表达量分别为0.68±0.04,0.44±0.03和1.01±0.06,Wnt1相对表达量分别为0.63±0.06,0.28±0.04和1.00±0.06,β-catenin相对表达量分别为0.41±0.05,0.22±0.03和1.01±0.09;与空白组比较,低、高剂量实验组中A549细胞的上述指标的差异均有统计学意义(P<0.05,P<0.01)。上述3组中H1650细胞的上述指标也呈现一致的现象。结论ISO可能通过抑制Wnt/β-catenin信号通路来抑制NSCLC细胞活性和自我更新,并促进其凋亡。     

Case Report: Transient Stress Hyperglycemia in the Patient With ST-Elevation Myocardial Infarction

Transient stress hyperglycemia in the setting of acute myocardial infarction is a frequent phenomenon. Its transient nature should not dissuade the clinician from management of elevated blood glucose in a patient after an ST-elevation myocardial infarction. This case presents an adult patient after an ST-elevation myocardial infarction with transient stress hyperglycemia and the evidence used to identify optimal pharmacologic management and secondary prevention.     

MCI的情志病机及疏肝法干预的可行性探讨＊

轻度认知障碍（Mild cognition impairment， MCI）是尚未达到阿尔兹海默病（Alzheimer’s disease， AD）的诊断标准且可逆转为正常脑老化状态的最佳窗口期。情志异常、肝失疏泄（肝失疏泄日久致肝郁）已被证实为MCI的重要情志病机，且“长期负性情绪积累肝失疏泄致衰加速脑老化”的科学假说已在本课题组前期研究中得到初步证实，疏肝法干预肝郁型MCI患者疗效显著，但以上作用机制尚未得到完全阐述。因此本研究系统总结了中医学对MCI的认识，长期情绪不调肝失疏泄对MCI的影响及可能机制，疏肝解郁方药及其成分改善肝郁型MCI的可行性，并提出使用无束缚性设计的眼动技术以探索疏肝法改善肝郁型MCI的可行性，为MCI的中医药干预及其神经机制探讨提供新思路，为中医情志衰老学说增添新内涵。     

Healthcare professionals’ knowledge,skills, and role in offering and facilitating memory making during end-of-life care in the adult intensive care unit

BackgroundAn activity to provide a tangible keepsake following the death of a loved one is termed ‘memory making’. However, limited evidence is available related to professionals' education and support to provide memory making opportunities in the adult intensive care unit (ICU). Having a greater understanding of healthcare professionals’ experiences can inform future patient/family care and support for professionals in end-of-life care.ObjectiveThe objective of this study was to describe what participants perceive memory making to be, if they have facilitated memory making activities as part of their practice, if they perceive it as part of their role, and if they have the necessary skills to do so.MethodsSeventy-five registered nurses (75% response rate), 19 medical doctors (76% response rate), and two social workers (66.7% response rate) completed a survey at a single tertiary referral centre in an adult ICU.ResultsParticipants reported memory making to include the creation of tangible keepsakes as well as nontangible activities. Overall, participants reported high agreement scores that the responsibility for initiating memory making predominately belonged to the nurse. Participants reported skills most needed involved the ability to interact with the family, being open to the concept, and integrating memory making into their standard of care. Having developed a rapport with families was considered an enabler, whereas lack of knowledge and clinical workload were reported as inhibitors to offering memory making.ConclusionsOverall, participants in this study reported positive experiences with offering memory making to families during end-of-life care in the adult ICU. Nurses are more likely to perceive professional responsibility for offering memory making, likely due to their increased time at the bedside and higher prominence and leadership in other end-of-life practices. To support professionals, education should include conceptual knowledge, procedural knowledge of keepsake creations, communication techniques using reflective practices, and organisational support to facilitate time requirements.