p63 in prostate biology and pathology

The identification of stem cells and differentiation programs regulating the development and maintenance of the normal prostate epithelium is essential for the identification of the cell type(s) and molecular alterations involved in the development and propagation of prostate cancer (CaP). The p53-homologue p63 is highly expressed in normal prostate basal cells and is a clinically useful biomarker for the diagnosis of CaP. Importantly, p63 has been shown to play a critical role in prostate development. Recent experimental evidence also suggests that this gene is essential for normal stem cell function in the prostate as well as other epithelial organs. Future studies aimed at better defining the role of p63 in the renewal of the adult prostate epithelium are likely to shed new light on the mechanisms involved in prostate carcinogenesis.     

Principles of entrainment: diagnostic utility for supraventricular tachycardia

Entrainment is an important pacing maneuver that can be used to identify reentry as a tachycardia mechanism and define components of the circuit. This review examines how principles of entrainment can be used to arrive at a firm supraventricular tachycardia diagnosis using a simple algorithm and builds a foundation for the application of entrainment to more complex or unknown circuits.     

脆性X综合征的基因诊断与产前诊断

为了探讨简便、快速、准确、价廉的脆性X综合征的诊断方法,对6个智能低下家系进行了细胞遗传学检查,以及PCR直接扩增FMR1 5^'端(CGG)_{n<\sub>重复序列、RT-PCR扩增FMR1基因的cDNA序列的分子遗传学检查。A家系先证者脆性X染色体高表达（35/273）,分子遗传学检查证实为脆性X综合征全突变患者;B家系先证者及其母亲无脆性X染色体表达,分子遗传学检查证实为非脆性X综合征患者;C家系的男性胎儿脆性X染色体表达（5/93）,先证者及其母亲未发现脆性X染色体,分子遗传学检查证实男性胎儿为脆性X综合征全突变患者,其母亲为前突变携带者,哥哥为嵌合体患者;D家系先证者脆性X染色体高表达17%,其姐姐脆性X染色体5%,分子遗传学检查证实先证者为脆性X综合征全突变患者,其姐姐为嵌合体患者;E家系先证者及其母亲,F家系先证者发现可疑脆性X染色体,分子遗传学检查证实为非脆性X综合征家系。结论： PCR直接扩增FMR1基因(CGG)n<\sub>重复序列联合RT-PCR扩增FMR1基因cDNA 序列简便、快速、价廉。可用于脆性X综合征的筛查、诊断及产前诊断,有推广应用价值。}     

我国分级诊疗发展历程及政策演变研究

分级诊疗已成为“健康中国”战略的核心制度体系,并作为重塑我国医疗服务体系的重要内容。通过对我国分级诊疗发展历程和相关政策的梳理,总结分析了不同阶段分级诊疗发展的经验与教训,为分级诊疗制度的理论研究和政策制定提供制度的分析视角和历史资料的参考。     

Focused information criterion on predictive models in personalized medicine

Instead of assessing the overall fit of candidate models like the traditional model selection criteria, the focused information criterion focuses attention directly on the parameter of the primary interest and aims to select the model with the minimum estimated mean squared error for the estimate of the focused parameter. In this article we apply the focused information criterion for personalized medicine. By using individual‐level information from clinical observations, demographics, and genetics, we obtain the personalized predictive models to make the prognosis and diagnosis individually. The consideration of the heterogeneity among the individuals helps reduce the prediction uncertainty and improve the prediction accuracy. Two real data examples from biomedical research are studied as illustrations.     

珍稀乡土树种福建柏苗期DRIS营养诊断

以我国珍稀乡土树种福建柏的1年生播种苗为研究对象,对苗期的DRIS营养诊断技术进行了系统研究。运用D-最优饱和设计法进行了福建柏苗期N、P、K3因素10处理盆栽施肥试验。与以往的研究仅以某月份或特定时间的取样制定的营养诊断标准不同,以整个生长季节(6～12月份)内选取的共计10 0份苗木叶片养分含量测定值为依据,成功制定了DRIS图解法及指数法的营养诊断标准,经检验其诊断正确率较高,验证了DRIS营养诊断方法可以排除1年生苗木不同月份叶龄的影响。福建柏苗期叶片3元素浓度最佳比值范围为N/ P=11.4 12 1±1.4 137;K/ N=0 .5 0 32±0 .10 39;K/ P=5 .6 16 8±1.0 6 0 4。DRIS诊断标准分别经各月份苗木叶片养分元素含量回代检验,所诊断的苗木N、P、K需肥次序与实际施肥量基本一致。以生长中期的8月份各处理苗木为例,列出各元素的DRIS诊断指数及相对需肥次序,诊断正确率达90 %以上。     

Ethical,Legal, and Clinical Considerations when Disclosing a High‐Risk Syndrome for Psychosis

There are complex considerations when planning to disclose an attenuated psychosis syndrome (APS) diagnosis. In this review, we evaluate ethical, legal, and clinical perspectives as well as caveats related to full, non‐ and partial disclosure strategies, discuss societal implications, and provide clinical suggestions. Each of the disclosure strategies is associated with benefits as well as costs/considerations. Full disclosure promotes autonomy, allows for the clearest psychoeducation about additional risk factors, helps to clarify and/or correct previous diagnoses/treatments, facilitates early intervention and bolsters communication between providers but there are important considerations involving heritability, comorbidity, culture, and stigma. Non‐disclosure advances nonmaleficence by limiting stigma and stress (which may inadvertently exacerbate the condition), and confusion (related to the rapidly evolving diagnosis) in a sensitive developmental period but is complicated by varying patient preferences and the possibility that, as new treatments without adverse effects become available, the risk with false positives no longer justifies the accompanying loss of autonomy. Partial disclosure balances ethical considerations by focusing on symptoms instead of labels, but evidence that laypersons may interpret this information as a pseudo‐diagnosis and that symptoms alone also contribute to stigma limits the efficacy of this approach. In addition, there are notable societal considerations relating to disclosure involving conservatorship, the reach of insurance companies, and discrimination. We advocate a hybrid approach to disclosure and recommend future research aimed at understanding the effects of stigma on clinical course and a renewed focus on those help‐seeking cases that do not transition but remain clinically relevant.     

Probable malignancy in a Sadlermiut Eskimo mandible

The mandible of a Sadlermiut Eskimo woman, age at death 28 to 30 years, displays numerous well-formed foramina concentrated bilaterally around the mental foramina. Differential diagnosis identifies this lesion with highest probability as a metastatic cancerous lesion; of less likelihood are sarcoma, hyperparathyroidism, hemangioma, and osteomyelitis. The specimen deserves attention because identification of malignancy in paleopathological material is uncommon and difficult, and because malignancies in aboriginal Eskimo populations are reputed to have been rare or absent.     

Immunodiagnosis of childhood malignancies

Immunodiagnosis utilizing immunohistochemical techniques is currently the most commonly utilized and readily available method of ancillary diagnosis in pediatric oncopathology. The methodology comprises relatively simple steps, based on straightforward biologic concepts, and the reagents used are generally well characterized and widely used. The principle of cancer immunodiagnosis is based on the determination of neoplastic lineage using detection of proteins typical of cell differentiation pathways. Methodology sensitivity varies and has become greater with each new generation of tests, but technical drawbacks should be considered to avoid excessive background or nonspecific results. Automated instrumentation offers a degree of accuracy and reproducibility not easily attainable by manual methods.