North American journal of medicine & science最新文献

{"title":"False-Negative Interpretation of Breast Sentinel Lymph Node Touch Preps: Analysis of the Causes with Suggestions to Improve Diagnostic Accuracy","authors":"Frank Chen, D. Hicks, M. Nava, R. Cheney","doi":"10.7156/NAJMS.2014.0702068","DOIUrl":"https://doi.org/10.7156/NAJMS.2014.0702068","url":null,"abstract":"Sentinel lymph node (SLN) biopsy has become widely accepted as an important procedure in staging breast cancer. False-negative results of touch prep (TP) examination at time of SLN biopsy requires additional surgery, delaying treatment and increasing cost. Therefore, we have analyzed our experience with false-negative interpretation on SLN TP’s. Eight-hundred and three consecutive SLN biopsies from 2003 to 2005 were obtained from the pathology archive of Roswell Park Cancer Institute. The intraoperative consultation results were correlated with the final diagnoses.  Twenty-five SLN intraoperative consultations had false-negative TP’s [false-negative rate = 3.1% (25/803), including 9 metastatic lobular carcinomas and 16 metastatic ductal carcinomas]. These cases were re-evaluated by 3 pathologists independently, and the metastases in the SLN sections were confirmed by positive cytokeratin staining.  Size of the metastatic focus, nuclear grade and the adequacy of TP’s were analyzed with regard to the cause of false-negative results. On re-screening of TP’s, we found that rare tumor cells of low nuclear grade were identified on 28% (7/25) of the TP’s (3 metastatic lobular carcinomas and 4 metastatic ductal carcinomas). In the remaining 72% (18/25) of TP’s, re-screening revealed no evidence of tumor.  Evaluation of these TP’s demonstrated that 50% (9/18) were unsatisfactory for evaluation or limited by scant cellularity. While cases that remained negative on re-screening tended to have smaller measured foci of tumor in the SLN (Average 0.65 mm vs. 0.94 mm from cases that were positive on re-screening), there was considerable overlap between these two groups. In conclusion, TP’s with scant cellularity, unsatisfactory TP’s and failure to identify tumor cells with low nuclear grade were found to significantly contribute to false-negative interpretations. We suggest that an additional TP or frozen section may be necessary if the cellularity of the initial TP is limited.  Correlation with the original core biopsy may be of value to help in identifying cancer cells of low nuclear grade.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"57 1","pages":"068"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87109970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Monitoring of Chronic Hepatitis C Based on its Natural History and Therapy.","authors":"Douglas L Nguyen, Ke-Qin Hu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Hepatitis C virus (HCV) infection is a major public health problem and a leading cause of chronic liver disease. Chronic HCV infection often follows a progressive course over years and can result in cirrhosis, hepatocellular carcinoma, and need for liver transplantation. In the United States alone, the estimated prevalence of HCV infection is up to 5.1 million persons. The optimal approach to detecting HCV infection is to screen persons for possible history of risks of exposure to virus and to test those selected individuals with risk factors. Both host and viral factors may be important contributors to the natural history of HCV. Currently, effective pharmacologic therapy are available to induce sustained virologic response (SVR) or virologic \"cure,\" which results in improved morbidity and mortality. Patient education before treatment is essential and should include a full discussion of potential side effects. It is important to work collaboratively and closely with patients to ensure early recognition of adverse events and to effectively manage them in order to ensure treatment compliance. This paper provides a thorough overview on screening for the diagnosis, clinical management, and treatment indications and contraindications for chronic hepatitis C.</p>","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"7 1","pages":"21-27"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287404/pdf/nihms-614501.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32969706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-Invasive Prenatal Diagnosis: A Comparison of Cell Free Fetal DNA (cffDNA) Based Screening and Fetal Nucleated Red Blood Cell (fnRBC) Initiated Testing","authors":"Zhi-yong Xu, Jiansheng Xie, Jinlai Meng, Peining Li, Xinghua Pan, Qinghua Zhou","doi":"10.7156/NAJMS.2013.0604194","DOIUrl":"https://doi.org/10.7156/NAJMS.2013.0604194","url":null,"abstract":"Current prenatal diagnosis uses non-invasive procedures of maternal serum screening and ultrasound exam to evaluate the risk of chromosomal abnormalities and invasive procedures of chorionic villus sampling and amniocentesis for the diagnosis of cytogenomic abnormalities and gene mutations. The discovery of cell free fetal DNA (cffDNA) in maternal blood prompted the application of massive parallel sequencing to screen fetal aneuploidies. The multi-center large-scale validation of cffDNA based prenatal screening has resulted in rapid integration of this close-to-diagnostic non-invasive procedure into clinical application. Further improvement of this approach could lead to the screening of pathogenic copy number variants and known disease-causing gene mutations. The success from cffDNA fuels efforts in isolating circulating fetal nucleated red blood cells (fnRBCs) for direct non-invasive prenatal testing of fetal genetic disorders. Various isolation and enrichment methods based on the physical and biologic features of the fnRBCs have been developed but the analytic and clinical validities have not yet been established. The cffDNA based prenatal screening has significantly reduced unnecessary invasive procedures. Future breakthrough on fnRBC initiated prenatal testing will further shift the paradigm toward non-invasive prenatal diagnosis.     [N A J Med Sci. 2013;6(4):194-199.   DOI: 10.7156/najms.2013.0604194]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"32 1","pages":"194"},"PeriodicalIF":0.0,"publicationDate":"2013-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88373642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Opportunities and Challenges in Molecular Genetic Testing in China: The Experience of an Academic Center for Clinical Molecular Medicine","authors":"Lin Zou, X. Chen, Xiaoyan He, L. Bao","doi":"10.7156/NAJMS.2013.0604213","DOIUrl":"https://doi.org/10.7156/NAJMS.2013.0604213","url":null,"abstract":"Molecular genetic testing and molecular pathology are relatively new but rapidly growing fields in China. This article reports on the experience of providing molecular genetic testing at the Center for Clinical Molecular Medicine (CCMM) of Chongqing Medical University in China. This center is the first of such centers in the southwestern region of China and implements a spectrum of genetic tests on constitutional cytogenetics, oncology cytogenetics, molecular cytogenetics, molecular genetics, molecular oncology, metabolic genetics, and newborn screening. The annual test volume had a 78-fold increase in the past five years and reached approximately 380,000 tests in 2012. This tremendous growth reflects both great opportunities and challenges for China’s healthcare system. Some of the challenges such as the lack of a medical genetics professionals and qualified training programs for clinical geneticists, laboratory specialists and genetic counselors are discussed.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"108 1","pages":"213"},"PeriodicalIF":0.0,"publicationDate":"2013-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74687937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fragile X Syndrome in China","authors":"R. Duan, K. Garber, P. Jin","doi":"10.7156/NAJMS.2013.0604181","DOIUrl":"https://doi.org/10.7156/NAJMS.2013.0604181","url":null,"abstract":"Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID), and the leading monogenic cause of autism spectrum disorders. The FXS cases in China were first reported in 1984, and effort has been made to improve the wellbeing of FXS patients. However, the general Chinese population is unfamiliar with FXS due to the limited public education. Even among those with medical training, there is a lack of awareness. Here our review aims to provide basic information on FXS, introduce the clinical aspects of FXS in China, and outline future research and policy recommendations that may in the future improve FXS genetic testing and counselor training in the Chinese health system.  [N A J Med Sci. 2013;6(4):181-185.   DOI: 10.7156/najms.2013.0604181]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"16 1","pages":"181"},"PeriodicalIF":0.0,"publicationDate":"2013-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84416604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stability and Reproducibility of the Measurement of Plasma Nitrate in Large Epidemiologic Studies.","authors":"Yushan Wang,&nbsp;Mary K Townsend,&nbsp;A Heather Eliassen,&nbsp;Tianying Wu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Inorganic nitrate has emerged as a therapeutic agent for cardiovascular disease; however, nitrate can also metabolize to carcinogenic nitrosamines under pathologic conditions. Few large epidemiologic studies have examined circulating levels of nitrate in relation to cardiovascular disease and cancer. Data on the validity of nitrate measurement in blood samples collected in typical epidemiologic settings are needed before nitrate can be evaluated as an exposure in large epidemiologic studies. We measured plasma levels of nitrate in three pilot studies to evaluate its laboratory variability, stability with delayed processing, and reproducibility over time among women from the Nurses' Health Study and healthy female volunteers. Laboratory variability of nitrate levels was fairly low, with a coefficient variation (CV) of 7%. Plasma nitrate levels in samples stored as whole blood on ice for up to 48 hrs before processing were very stable; the overall intra-class correlation (ICC) from 0 to 48 hours was 0.89 (95%CI, 0.70-0.97). The within-person reproducibility over a one-year period was modest, with an ICC of 0.49 (95% CI, 0.33- 0.94). Our results indicate that measurement of nitrate in plasma is reliable and stable in blood samples with delayed processing up to 48 hours. Within-person reproducibility was modest but data from this study can be used for measurement error correction in subsequent analyses. The measurement of nitrate cannot be widely used in epidemiologic research without the documentation of its stability and reproducibility.</p>","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"6 2","pages":"82-86"},"PeriodicalIF":0.0,"publicationDate":"2013-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826455/pdf/nihms516035.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31875805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges and Needs of Chinese and Korean American Breast Cancer Survivors: In-Depth Interviews.","authors":"Sunmin Lee,&nbsp;Lu Chen,&nbsp;Grace X Ma,&nbsp;Carolyn Y Fang,&nbsp;Youngsuk Oh,&nbsp;Lynn Scully","doi":"10.7156/najms.2013.0601001","DOIUrl":"https://doi.org/10.7156/najms.2013.0601001","url":null,"abstract":"<p><p>Breast cancer incidence and the number of breast cancer survivors have been rapidly increasing among Chinese and Korean women in the United States. However, few data are available regarding quality of life in Asian American breast cancer survivors. This qualitative study aims to describe Asian American women's perceptions of quality of life and their breast cancer experiences. In-depth interviews with four Chinese and five Korean American breast cancer survivors and three oncologists were conducted in Chinese, Korean, or English. Interviews were recorded and transcripts were translated into English. Qualitative analyses were performed by two independent coders and then discussed and agreed upon by the research team. The respondents reported that the breast cancer experience had affected various domains of quality of life, but women reported having limited resources with which to cope effectively. Depression, anxiety, and stress were commonly reported, but women rarely discussed these issues with family and friends or sought professional help. As immigrants, women's loneliness and a lack of social support and culturally relevant resources seemed to be major barriers to maintaining good quality of life. Women also expressed interest in learning more about alternative therapies and relaxation skills. These findings can be used to help inform the development of a culturally appropriate intervention for Asian American breast cancer survivors. Future programs may provide information in women's native languages to teach skills to cope with stress and anxiety, increase women's self-efficacy within the context of their cultural background, and enhance social support among women from the same ethnic group.</p>","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"6 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2013-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3766352/pdf/nihms506176.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31720464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developing a Predictive Gene Classifier for Autism Spectrum Disorders Based upon Differential Gene Expression Profiles of Phenotypic Subgroups.","authors":"Valerie W Hu,&nbsp;Yinglei Lai","doi":"10.7156/najms.2013.0603107","DOIUrl":"https://doi.org/10.7156/najms.2013.0603107","url":null,"abstract":"<p><p>Autism spectrum disorders (ASD) are neurodevelopmental disorders which are currently diagnosed solely on the basis of abnormal stereotyped behavior as well as observable deficits in communication and social functioning. Although a variety of candidate genes have been identified on the basis of genetic analyses and up to 20% of ASD cases can be collectively associated with a genetic abnormality, no single gene or genetic variant is applicable to more than 1-2 percent of the general ASD population. In this report, we apply class prediction algorithms to gene expression profiles of lymphoblastoid cell lines (LCL) from several phenotypic subgroups of idiopathic autism defined by cluster analyses of behavioral severity scores on the Autism Diagnostic Interview-Revised diagnostic instrument for ASD. We further demonstrate that individuals from these ASD subgroups can be distinguished from nonautistic controls on the basis of limited sets of differentially expressed genes with a predicted classification accuracy of up to 94% and sensitivities and specificities of ~90% or better, based on support vector machine analyses with leave-one-out validation. Validation of a subset of the \"classifier\" genes by high-throughput quantitative nuclease protection assays with a new set of LCL samples derived from individuals in one of the phenotypic subgroups and from a new set of controls resulted in an overall class prediction accuracy of ~82%, with ~90% sensitivity and 75% specificity. Although additional validation with a larger cohort is needed, and effective clinical translation must include confirmation of the differentially expressed genes in primary cells from cases earlier in development, we suggest that such panels of genes, based on expression analyses of phenotypically more homogeneous subgroups of individuals with ASD, may be useful biomarkers for diagnosis of subtypes of idiopathic autism.</p>","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"6 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867975/pdf/nihms526330.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31977146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Counseling Training in China: A Pilot Program at Fudan University","authors":"Y. An, Hongyan Chen, Li Jin, Bai-Lin Wu, D. Lu","doi":"10.7156/NAJMS.2013.0604221","DOIUrl":"https://doi.org/10.7156/NAJMS.2013.0604221","url":null,"abstract":"","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"56 1","pages":"221"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81489914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Board Certification Systems for Clinical Geneticists and Genetic Counselors in Taiwan","authors":"A. Tsai","doi":"10.7156/NAJMS.2013.0604223","DOIUrl":"https://doi.org/10.7156/NAJMS.2013.0604223","url":null,"abstract":"","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"138 1","pages":"223"},"PeriodicalIF":0.0,"publicationDate":"2013-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86619432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}