IRB, Institutional Review Board

IRB,机构审查委员会
  • 文章类型: Journal Article
    补充营养援助计划-教育将食品储藏室确定为有针对性的政策设置,系统,和环境(PSE)干预措施,以促进依赖餐具室补充食物需求的家庭的健康饮食。本研究旨在确定影响食品储藏室实施健康饮食PSE干预的能力和准备程度的因素。通过缩放对俄亥俄州农村和城市县的26名具有接受SNAP福利经验的社区居民和12名SNAP-Ed工作人员进行了定性访谈,以确定与社区/组织能力和准备实施健康饮食PSE相关的主题和指标食品储藏室的干预措施。在虚拟共识会议上,由11位社区营养专家对基于访谈笔录的归纳和演绎编码生成的主题和相关指标进行了优先排序和加权。出现了五个主题;专家衍生的权重(缩放比例低,0到高,1)反映每个人对食品储藏室实施健康饮食PSE干预措施的感知重要性:食品储藏室容量和物流[0·252],网络和关系[0·228],社区营养从业者能力[0·212],食品储藏室用户特征[0·156],以及污名和刻板印象[0·1·52]。总的来说,确定了17项反映这些主题的指标。食品储藏室的成功和持续的PSE干预将需要一种考虑食品储藏室容量的量身定制方法,社区内的需求和机会,以及社区营养从业人员的能力。确定的主题和指标为满足其所在社区的食品储藏室中的响应性PSE方法提供了指导。
    The Supplemental Nutrition Assistance Program-Education identified food pantries as a targeted setting for policy, system, and environmental (PSE) interventions to promote healthy eating among households who rely on pantries to supplement their food needs. The present study sought to identify factors influencing capacity and readiness to implement healthy eating PSE interventions in food pantries. Qualitative interviews were conducted via zoom with twenty-six community residents with experience receiving SNAP benefits and twelve SNAP-Ed staff in rural and urban counties in Ohio to identify themes and indicators related to community/organisational capacity and readiness to implement healthy eating PSE interventions in food pantries. Themes and related indicators generated based on inductive and deductive coding of interview transcripts were prioritised and weighted by eleven community nutrition experts during a virtual consensus conference. Five themes emerged; expert-derived weights (scaled low, 0 to high, 1) reflect the perceived importance of each to implementation of healthy eating PSE interventions in food pantries: food pantry capacity and logistics [0⋅252], networks and relationships [0⋅228], community nutrition practitioner capacity [0⋅212], food pantry user characteristics [0⋅156], and stigma and stereotypes [0⋅1⋅52]. Overall, seventeen indicators were identified reflecting these themes. Successful and sustained PSE interventions at food pantries will require a tailored approach that considers food pantries\' capacity, needs and opportunities within the community, and capacity of community nutrition practitioners. The themes and indicators identified provide guidance for responsive PSE approaches in food pantries that meet communities where they are.
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  • 文章类型: Journal Article
    先前尚未评估中东和北非MENA地区精神分裂症患者对氯氮平治疗的主观看法。全球范围内,很少有研究评估护理人员对氯氮平治疗的看法。我们进行了横断面调查,使用临床医生管理的结构化访谈,在卡塔尔开处方氯氮平的精神分裂症/分裂情感障碍患者,和他们的主要照顾者。要求参与者根据特定的益处和副作用对氯氮平与之前的抗精神病药物治疗进行评分。42名患者和33名护理人员参与了这项研究。在患者中,三分之二是男性,约一半为卡塔尔,平均年龄为33.9岁.在所询问的所有7种潜在益处上,患者和护理人员将氯氮平评为优于先前的抗精神病药物治疗。最大的好处是改善情绪。与以前的抗精神病药物治疗相比,患者认为氯氮平不太可能引起锥体外系副作用,但更可能引起18种其他潜在副作用。最大的区别是夜间流涎,食欲增加,还有便秘.近一半的患者(48%)和三分之二的护理人员(64%)表示,他们更愿意在疾病早期开始使用氯氮平。60%的患者和37%的护理人员认为他们从卫生专业人员那里获得的氯氮平信息不足。不到一半的患者和大约三分之二的护理人员对氯氮平的血液学监测有足够的了解。一般来说,就氯氮平治疗的总体副作用而言,患者和护理人员之间存在显著正相关。同样,听力声音偏执思维的改善与生活质量的改善相关。总之,结果表明,尽管氯氮平的副作用存在问题,但患者和护理者还是欣赏氯氮平的益处。结果支持在治疗和服务中早期提供氯氮平,为患者和护理人员提供更多关于氯氮平的信息。
    Subjective views of clozapine treatment among patients with schizophrenia in the Middle East and North African MENA Region have not previously been assessed. Globally, few studies have assessed the views of carers to clozapine treatment. We conducted a cross-sectional survey, using a clinician administered structured interview, of patients with schizophrenia/schizoaffective disorder prescribed clozapine in Qatar, and their primary carers. Participants were asked to rate clozapine against prior their antipsychotic treatment in terms of specific benefits and side effects. Forty-two patients and 33 carers participated in the study. Of the patients, two thirds were male, approximately half were Qatari and the mean age was 33.9 years. Patients and carers rated clozapine as superior to prior antipsychotic treatment on all 7 potential benefits inquired about. The greatest perceived benefit was improved mood. Patients rated clozapine as less likely to cause extrapyramidal side effects but more likely to cause 18 other potential side effects compared to prior antipsychotic treatment, with the greatest difference being for nocturnal salivation, increased appetite, and constipation. Nearly half of patients (48 %) and two thirds of carers (64 %) stated that they would have preferred to start clozapine earlier in their illness. Sixty percent of patients and 37 % of carers regarded the information that they had received from health professionals on clozapine as inadequate. Less than half of patients and approximately-two thirds of carers had adequate knowledge of haematological monitoring for clozapine. Generally, there were significantly positive correlation between patients and carers regarding the overall side effects of clozapine treatment. Likewise, improvement in hearing voices paranoid thoughts correlated with improved quality of life. In summary, the results show that patients and carers appreciate the benefits of clozapine despite its side effects being problematic. The results support clozapine being offered earlier in treatment and services providing more information on clozapine to patients and carers.
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  • 文章类型: Journal Article
    未经证实:免疫抑制剂的治疗药物监测(TDM)对于移植患者的最佳护理至关重要。免疫分析和液相色谱-质谱(LC-MS)是最常用的TDM方法。然而,免疫测定可能受到来自异源性抗体和结构相似的药物和代谢物的干扰。此外,标称质量LC-MS测定可能难以优化,并且在可检测化合物的数量上受到限制。
    UNASSIGNED:这项研究的目的是使用在线固相萃取(SPE)和精确质量全扫描单离子监测(FS-SIM)数据采集模式对免疫抑制剂TDM进行基于质谱的测试。
    UNASSIGNED:LC-MS分析在具有Q-ExactivePlus质谱仪的TLX-2多通道HPLC上进行。TurboFlow在线SPE用于样品清理。将精确质量MS设置为具有FS-SIM的正电喷雾电离模式,以定量他克莫司,西罗莫司,依维莫司,和环孢菌素A。MS2片段模式用于化合物确认。
    未经评估:该方法在精度方面进行了验证,分析偏差,定量极限,线性度结转,样品稳定性,和干扰。他克莫司的定量,西罗莫司,依维莫司,和环孢菌素A与独立参考实验室的结果密切相关(r=0.926-0.984)。
    UNASSIGNED:准确质量FS-SIM可成功用于免疫抑制剂TDM,与标准方法产生的结果具有良好的相关性。TurboFlow在线SPE允许简单的“蛋白质崩溃和射击”样品制备方案。与传统MRM相比,通过FS-SIM的分析物定量促进了流线型的测定优化过程。
    UNASSIGNED: Therapeutic drug monitoring (TDM) of immunosuppressants is essential for optimal care of transplant patients. Immunoassays and liquid chromatography-mass spectrometry (LC-MS) are the most commonly used methods for TDM. However, immunoassays can suffer from interference from heterophile antibodies and structurally similar drugs and metabolites. Additionally, nominal-mass LC-MS assays can be difficult to optimize and are limited in the number of detectable compounds.
    UNASSIGNED: The aim of this study was to implement a mass spectrometry-based test for immunosuppressant TDM using online solid-phase extraction (SPE) and accurate-mass full scan-single ion monitoring (FS-SIM) data acquisition mode.
    UNASSIGNED: LC-MS analysis was performed on a TLX-2 multi-channel HPLC with a Q-Exactive Plus mass spectrometer. TurboFlow online SPE was used for sample clean up. The accurate-mass MS was set to positive electrospray ionization mode with FS-SIM for quantitation of tacrolimus, sirolimus, everolimus, and cyclosporine A. MS2 fragmentation pattern was used for compound confirmation.
    UNASSIGNED: The method was validated in terms of precision, analytical bias, limit of quantitation, linearity, carryover, sample stability, and interference. Quantitation of tacrolimus, sirolimus, everolimus, and cyclosporine A correlated well with results from an independent reference laboratory (r = 0.926-0.984).
    UNASSIGNED: Accurate-mass FS-SIM can be successfully utilized for immunosuppressant TDM with good correlation with results generated by standard methods. TurboFlow online SPE allows for a simple \"protein crash and shoot\" sample preparation protocol. Compared to traditional MRM, analyte quantitation by FS-SIM facilitates a streamlined assay optimization process.
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  • 文章类型: Journal Article
    脂质组学和代谢组学的新兴学科显示出发现诊断生物标志物的巨大潜力,但适当的分析前样品处理程序是关键的,因为在样品收集过程中,几种分析物易于离体变形。为了测试来自K3EDTA全血收集管的血浆样品的中间储存温度和储存期如何影响分析物浓度,我们评估了非空腹健康志愿者(n=9)的广谱代谢物样本,包括脂质和脂质介质,使用完善的基于LC-MS的平台。我们使用基于倍数变化的方法作为分析物稳定性的相对量度来评估489种分析物,采用靶向LC-MS/MS和LC-HRMS筛查的组合。许多分析物的浓度被发现是可靠的,通常证明不太严格的样品处理是合理的;然而,某些分析物不稳定,配套需要细致的加工。我们为严格程度不同的样品处理方案提出了四个数据驱动的建议,基于分析物的最大数量和常规临床实施的可行性。这些方案还能够基于其对离体畸变的分析物特异性脆弱性来简单评估生物标志物候选物。总之,分析前样品处理对某些代谢物作为生物标志物的适用性有重大影响,包括几种脂质和脂质介质。我们的样品处理建议将提高样品的可靠性和质量,当这些代谢物是常规临床诊断所必需时。
    The emerging disciplines of lipidomics and metabolomics show great potential for the discovery of diagnostic biomarkers, but appropriate pre-analytical sample-handling procedures are critical because several analytes are prone to ex vivo distortions during sample collection. To test how the intermediate storage temperature and storage period of plasma samples from K3EDTA whole-blood collection tubes affect analyte concentrations, we assessed samples from non-fasting healthy volunteers (n = 9) for a broad spectrum of metabolites, including lipids and lipid mediators, using a well-established LC-MS-based platform. We used a fold change-based approach as a relative measure of analyte stability to evaluate 489 analytes, employing a combination of targeted LC-MS/MS and LC-HRMS screening. The concentrations of many analytes were found to be reliable, often justifying less strict sample handling; however, certain analytes were unstable, supporting the need for meticulous processing. We make four data-driven recommendations for sample-handling protocols with varying degrees of stringency, based on the maximum number of analytes and the feasibility of routine clinical implementation. These protocols also enable the simple evaluation of biomarker candidates based on their analyte-specific vulnerability to ex vivo distortions. In summary, pre-analytical sample handling has a major effect on the suitability of certain metabolites as biomarkers, including several lipids and lipid mediators. Our sample-handling recommendations will increase the reliability and quality of samples when such metabolites are necessary for routine clinical diagnosis.
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  • 文章类型: Journal Article
    未经评估:残疾人可能因其残疾和/或医疗状况而感染和死亡的风险更高,以及系统性的不平等和劣势。残疾人也是一个非常异质的群体,许多残疾人被边缘化。这项研究的目的是研究残疾人和非残疾人在COVID-19诊断和疫苗接种方面的差异,并探讨残疾社区本身在COVID-19诊断和疫苗接种方面的社会人口统计学差异。
    未经批准:为此,我们分析了44,422名美国人口普查局(52,890名残疾成年人和391,532名无残疾成年人)关于COVID-19诊断的二级数据,疫苗接种,和社会人口统计学。应用了人员权重的频率。
    未经批准:在这项研究中,在大流行期间,19.3%的残疾成年人被诊断出患有COVID-19,而非残疾成年人为16.7%。残疾人被诊断患有COVID-19的可能性是没有残疾的成年人的1.20倍。在残疾人中,以下人群更有可能被诊断为COVID-19:认知障碍患者;顺性女性;黑人;西班牙裔人;具有某些大学或副学士学位的人;拥有雇主和/或私人保险的人;以及居住在较大家庭的人。残疾人和非残疾人之间的疫苗接种没有显着差异;但是,残疾群体之间存在疫苗接种差异.
    未经评估:许多在大流行之前更有可能面临医疗保健差距的残疾人在大流行期间也更有可能被诊断出患有COVID-19。
    UNASSIGNED: People with disabilities may be at higher risk for COVID-19 infection and death as a result of their impairments and/or medical conditions, and systemic inequities and disadvantages. People with disabilities are also a very heterogenous group, with many people with disabilities being multiply marginalized. The aim of this study was to examine differences in COVID-19 diagnosis and vaccination between people with and without disabilities, and to explore sociodemographic differences in COVID-19 diagnosis and vaccination among the disability community itself.
    UNASSIGNED: To do so, we analyzed secondary United States Census Bureau data from 444,422 people (52,890 adults with disabilities and 391,532 adults without disabilities) about COVID-19 diagnosis, vaccination, and sociodemographics. Frequency person-weights were applied.
    UNASSIGNED: In this study, 19.3% of adults with disabilities were diagnosed with COVID-19 during the pandemic compared to 16.7% of adults without disabilities. People with disabilities were 1.20 times more likely to be diagnosed with COVID-19 than adults without disabilities. Among people with disabilities, the following groups were more likely to be diagnosed with COVID-19: people with cognitive disabilities; cisgender women; Black people; Hispanic people; people with some college or associate\'s degrees; people with employer and/or private insurance; and people who lived in larger households. There was not a significant difference in vaccination between people with and without disabilities; however, there were vaccination disparities among the disability community.
    UNASSIGNED: Many of the people with disabilities who were more likely to face health care disparities prior to the pandemic were also more likely to be diagnosed with COVID-19 during the pandemic.
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  • 文章类型: Journal Article
    UNASSIGNED:测量痕量和有毒元素的分析方法对于评估暴露和营养状况至关重要。开发并验证了十元面板,用于全血的临床测试。对在ARUP实验室进行的患者样品进行回顾性数据分析。
    未经授权:开发并验证了一种通过ICP-MS定量全血中十种元素的方法。用950μL含1%氢氧化铵的稀释剂提取50微升样品,0.1%TritonX-100、1.75%EDTA以及加标内标。每种元素使用四种校准物,并在山羊血液中制备以匹配患者样本基质。用具有CetacMVX7100μL工作站自动进样器的Agilent7700ICP-MS分析样品。
    UNASSIGNED:该测定对于所有元件是线性的,在分析测量范围(AMR)的低端,测定间和测定内的不精确度小于或等于11%CV,并且对于所有元件,在AMR的上端小于或等于4%CV。用至少40个重复患者样本检查准确性,能力测试样本,和矩阵匹配的尖峰。十个元素的线性斜率范围为0.94至1.03,在AMR和R2以下的截距范围为0.97至1.00。
    UNASSIGNED:开发了多元素面板,用于分析全血中的十种元素,以统一样品制备并提高批次运行效率。改进的分析方法利用基质匹配的校准物进行精确定量以满足监管要求。该测定根据CLIA认证的临床实验室指南进行验证,适用于临床测试以评估营养状况和毒性暴露。
    UNASSIGNED: Analytical methods to measure trace and toxic elements are essential to evaluate exposure and nutritional status. A ten-element panel was developed and validated for clinical testing in whole blood. Retrospective data analysis was conducted on patient samples performed at ARUP Laboratories.
    UNASSIGNED: A method was developed and validated to quantify ten elements in whole blood by ICP-MS. Fifty microliters of sample were extracted with 950 μL of diluent containing 1 % ammonium hydroxide, 0.1 % Triton X-100, 1.75 % EDTA along with spiked internal standards. Four calibrators were used for each element and prepared in goat blood to match the patient specimen matrix. Samples were analyzed with an Agilent 7700 ICP-MS with a Cetac MVX 7100 μL Workstation autosampler.
    UNASSIGNED: The assay was linear for all elements with inter- and intra-assay imprecision less than or equal to 11% CV at the low end of the analytical measurement range (AMR) and less than or equal to 4% CV at the upper end of the AMR for all elements. Accuracy was checked with a minimum of 40 repeat patient samples, proficiency testing samples, and matrix-matched spikes. The linear slopes for the ten elements ranged from 0.94 to 1.03 with intercepts below the AMR and R2 ranging from 0.97 to 1.00.
    UNASSIGNED: The multi-element panel was developed to analyze ten elements in whole blood to unify the sample preparation and increase batch run efficiency. The improved analytical method utilized matrix-matched calibrators for accurate quantification to meet regulatory requirements. The assay was validated according to guidelines for CLIA-certified clinical laboratories and was suitable for clinical testing to assess nutritional status and toxic exposure.
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  • 文章类型: Journal Article
    UNASSIGNED:与马里兰大学医学中心相关的移动综合健康社区辅助医疗(MIH-CP)计划致力于通过解决健康的医疗和社会决定因素来改善患者从医院到家庭的过渡。直到最近,只有自成一体的卫生系统才能整合住院和门诊用药数据.没有一些手段来追踪过渡中的病人,与药物相关的问题和错误存在重大风险.
    UNASSIGNED:评估MIH-CP计划对充血性心力衰竭(CHF)和/或慢性阻塞性肺疾病(COPD)患者用药依从性的影响。
    UNASSIGNED:这是一项试验性观察性研究,旨在比较MIH-CP计划和倾向匹配对照组患者在出院时对药物治疗方案的依从性(以覆盖天数[PDC]的比例衡量)。使用11个人口统计信息计算倾向得分,诊断,第三方付款人,和病人护理相关变量。从电子病历中获得出院药物详细信息。根据药房索赔数据计算每种药物的PDC。
    UNASSIGNED:83名患者被纳入研究;43名患者被纳入干预组,40名患者为倾向匹配的对照组。在调整了年龄之后,性别,和第三方付款人,研究结果表明,在出院后的前30天,参加MIH-CP计划的患者的药物依从性高于对照组,特别是在诊断为CHF的患者中(PDC的8%差异,95%置信区间[CI],-0.12-0.28%)和COPD(14%差异,95%CI,-0.15-0.43%),尽管两个结果均未达到统计学意义。出院后30天后,入选和未入选MIH-CP计划的患者之间的药物依从性差异减弱。
    UNASSIGNED:这项初步研究表明,在MIH-CP项目中,患者的用药依从性有改善的趋势。未来将需要涉及更大的患者队列的研究来确认这些初步发现。
    UNASSIGNED: The mobile integrated health-community paramedicine (MIH-CP) program affiliated with the University of Maryland Medical Center focuses on improving patient transitions from hospital to home by addressing both medical and social determinants of health. Until recently, only self-contained health systems could integrate inpatient and outpatient medication data. Without some means to track patients in transition, there is a significant risk of medication-related problems and errors.
    UNASSIGNED: To evaluate the impact of the MIH-CP program on medication adherence among patients with congestive heart failure (CHF) and/or chronic obstructive pulmonary disease (COPD).
    UNASSIGNED: This is a pilot observational study designed to compare adherence to drug regimens prescribed at hospital discharge (measured by the proportion of days covered [PDC]) between patients enrolled in the MIH-CP program and a propensity-matched control group. Propensity scores were calculated using 11 demographic, diagnostic, third-party payer, and patient care-associated variables. Discharge medication details were obtained from electronic medical records. PDC for each of the medications were calculated from pharmacy claims data.
    UNASSIGNED: Eighty-three patients were included in the study; forty-three patients were placed in the intervention group and 40 were propensity-matched controls. After adjusting for age, sex, and third-party payer, findings indicated that medication adherence was higher among patients enrolled in the MIH-CP program compared with control during the first 30 days post-discharge, specifically among patients diagnosed with CHF (8% difference in PDC, 95% confidence interval [CI], -0.12-0.28%) and COPD (14% difference, 95% CI, -0.15-0.43%), although neither result achieved statistical significance. The differences in medication adherence between patients who were enrolled and those who were not enrolled in the MIH-CP program diminished after 30 days post-discharge.
    UNASSIGNED: This pilot study demonstrated a trend toward improved medication adherence among patients enrolled in the MIH-CP program. Future research involving a larger patient cohort will be required to confirm these preliminary findings.
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  • 文章类型: Journal Article
    未经证实:基质靶向治疗对肿瘤免疫抑制的影响在很大程度上尚未被研究。RNA寡核苷酸,STNM01已显示抑制负责肿瘤蛋白聚糖合成和基质重塑的碳水化合物磺基转移酶15(CHST15)。这项I/IIa期研究旨在评估STNM01在不可切除的胰腺导管腺癌(PDAC)患者中的安全性和有效性。
    未经批准:这是一个开放标签,STNM01作为吉西他滨联合nab-紫杉醇难治性PDAC二线治疗的剂量递增研究.一个周期包括三次2周内窥镜超声引导的局部注射STNM01,剂量为250、1,000、2,500或10,000nM,与S-1组合(每天两次80-120mg,每3周14天)。主要结果是剂量-剂量毒性(DLT)的发生率。次要结局包括总生存期(OS),肿瘤反应,肿瘤微环境的变化对免疫组织病理学的影响,和安全性(jRCT2031190055)。
    未经批准:共纳入22例患者,最多重复3个循环;未观察到DLT。中位OS为7.8个月。疾病控制率为77.3%;1例患者显示胰腺和肿瘤引流淋巴结可见病变完全消失。较高的肿瘤CHST15表达与基线时较差的CD3+和CD8+T细胞浸润相关。STNM01导致CHST15的显着减少,并在第1周期结束时与S-1组合的肿瘤浸润性CD3和CD8T细胞增加。CD3+T细胞中更高的倍数增加与更长的OS相关。有8个3级不良事件。
    UNASSIGNED:局部注射STNM01作为联合二线治疗的不可切除PDAC患者的耐受性良好。它通过增强肿瘤微环境中的T细胞浸润来延长存活。
    UNASSIGNED:本研究得到了日本医学研究与发展机构(AMED)的支持。
    UNASSIGNED: The impact of stroma-targeting therapy on tumor immune suppression is largely unexplored. An RNA oligonucleotide, STNM01, has been shown to repress carbohydrate sulfotransferase 15 (CHST15) responsible for tumor proteoglycan synthesis and matrix remodeling. This phase I/IIa study aimed to evaluate the safety and efficacy of STNM01 in patients with unresectable pancreatic ductal adenocarcinoma (PDAC).
    UNASSIGNED: This was an open-label, dose-escalation study of STNM01 as second-line therapy in gemcitabine plus nab-paclitaxel-refractory PDAC. A cycle comprised three 2-weekly endoscopic ultrasound-guided locoregional injections of STNM01 at doses of 250, 1,000, 2,500, or 10,000 nM in combination with S-1 (80-120 mg twice a day for 14 days every 3 weeks). The primary outcome was the incidence of dose-liming toxicity (DLT). The secondary outcomes included overall survival (OS), tumor response, changes in tumor microenvironment on immunohistopathology, and safety (jRCT2031190055).
    UNASSIGNED: A total of 22 patients were enrolled, and 3 cycles were repeated at maximum; no DLT was observed. The median OS was 7.8 months. The disease control rate was 77.3%; 1 patient showed complete disappearance of visible lesions in the pancreas and tumor-draining lymph nodes. Higher tumoral CHST15 expression was associated with poor CD3+ and CD8+ T cell infiltration at baseline. STNM01 led to a significant reduction in CHST15, and increased tumor-infiltrating CD3+ and CD8+ T cells in combination with S-1 at the end of cycle 1. Higher fold increase in CD3+ T cells correlated with longer OS. There were 8 grade 3 adverse events.
    UNASSIGNED: Locoregional injection of STNM01 was well tolerated in patients with unresectable PDAC as combined second-line therapy. It prolonged survival by enhancing T cell infiltration in tumor microenvironment.
    UNASSIGNED: The present study was supported by the Japan Agency for Medical Research and Development (AMED).
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  • 文章类型: Case Reports
    假性甲状旁腺功能减退症1A(PHP1A)和假性甲状旁腺功能减退症(PPHP)是由GNAS的功能丧失变异引起的,编码Gsα。我们提出了两个不相关的日本家庭,其PHP1A和PPHP具有未报道的GNAS致病变体(c.1141delG,p.Asp381Thrfs*23andc.1117delC,p.Arg373Alafs*31)。这些变体在Gsα的β6链/α5螺旋中引入异常氨基酸,与G蛋白偶联受体(GPCR)相互作用。我们得出的结论是,这些变体会改变Gsα与GPCR的关联,并导致PHP1A或PPHP。
    Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of GNAS, which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of GNAS (c.1141delG, p.Asp381Thrfs*23 and c.1117delC, p.Arg373Alafs*31). These variants introduce abnormal amino acids in the β6 strand/α5 helix of Gsα, which interact with G protein coupling receptor (GPCR). We conclude that these variants alter the association of Gsα with GPCR and cause PHP1A or PPHP.
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  • 文章类型: Journal Article
    UNASSIGNED:基本生命支持是在提供专业帮助之前,适用于危及生命的疾病和伤害的受害者的医疗护理水平。这项研究旨在评估知识,态度,迪拉大学转诊医院健康科学和医学生毕业班的基本生命支持实践。
    UNASSIGNED:ology:对Dilla大学的毕业班学生进行了横断面研究,医学与健康科学学院于2021年9月10日至2021年12月13日。通过系统随机抽样技术总共选择了167名参与者。进行了双变量和多变量logistic回归分析。
    未经评估:在研究参与者中,95(56.9%)和86(51.5%)分别具有基本生命支持的良好知识和良好实践。接受基本生命支持和高级生命支持培训,发现与需要基本生命支持的人接触的知识更丰富,奇数比率为[AOR=13.8,95%CI(6.3-30.1)],[AOR=27.7,95%CI(6.4-119)]和[AOR=15.7,95%CI(6.6-37.5)]。与医学相比,学习麻醉可以增加有关基本生命支持的知识近两倍[AOR=1.8,95%CI(o.4-9.5)]。
    UNASSIGNED:这项研究的结果表明,我们医院近一半的健康科学学生缺乏足够的BLS知识和技能。基本生命支持和高级生命支持培训,在麻醉和医学部门学习,接触需要基本生命支持的人与高知识显著相关。为了增加BLS的知识,建议进行标准化培训和评估。
    UNASSIGNED: Basic Life Support is a level of medical care Applied to victims of life-threatening illnesses and injuries before professional help is provided. This study aimed to assess the knowledge, attitude, and practice toward Basic Life support in Graduating class of health science and medical students at Dilla university referral hospital.
    UNASSIGNED: ology: A cross-sectional study was conducted on graduating class students of Dilla University, college of medicine and health science from September 10/2021 to December 13/2021. A total of 167 participants were selected by a systematic random sampling technique. A bi-variable and multi-variable logistic regression analysis were carried out.
    UNASSIGNED: Among the study participants, 95 (56.9%) and 86(51.5%) have good knowledge and good practice towards basic life support respectively. Being trained for basic life support and advanced life support, exposure with the person in need of basic life support were found more knowledgeable with odd ratio of [AOR = 13.8, 95% CI (6.3-30.1)], [AOR = 27.7, 95% CI (6.4-119)] and [AOR = 15.7, 95% CI (6.6-37.5)]. Learning anesthesia increases knowledge about basic life support nearly two times [AOR = 1.8, 95% CI (o.4-9.5)] when compared to medicine.
    UNASSIGNED: The findings of this study suggest that nearly half of health science students in our hospital lack adequate knowledge and skills in BLS. Training on basic life support and advanced life support, learning in anesthesia and medicine departments, and exposure to the person in need of basic life support were significantly associated with high knowledge. To increase knowledge of BLS standardized Training and assessments are recommended.
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