North American journal of medicine & science最新文献_第5页

The Advances in Molecular Biology of Hepatoblastoma: Implications for Diagnostic Pathology 肝母细胞瘤分子生物学研究进展:对病理诊断的意义

North American journal of medicine & science Pub Date : 2012-10-29 DOI: 10.7156/NAJMS.2012.054217

Weiwei Chen, R. Kozielski, C. LeVea, Frank Chen

{"title":"The Advances in Molecular Biology of Hepatoblastoma: Implications for Diagnostic Pathology","authors":"Weiwei Chen, R. Kozielski, C. LeVea, Frank Chen","doi":"10.7156/NAJMS.2012.054217","DOIUrl":"https://doi.org/10.7156/NAJMS.2012.054217","url":null,"abstract":"As the most common pediatric liver malignancy, hepatoblastoma (HB) accounts for more than 90% of primary hepatic malignant tumors in children less than five years of age in the US, and its incidence has been increasing in the past decades. Despite extensive studies, the pathogenesis of HB remains to be elucidated. Multiple signaling pathways may be involved in the oncogenic process of HB. The best characterized pathways include the canonical Wnt/beta-catenin pathway, the hepatocyte growth factor (HGF)/c-Met signaling pathway, the Notch pathway and the Hedgehog pathway. In addition, signaling molecules associated with these signaling pathways have been shown to be potential novel tumor markers for HB. Preoperative chemotherapy is the current standard of care for HB. Highly sensitive and specific tumor markers are not only important for the accurate diagnosis of HB but are also essential for predicting its clinical behaviors and prognosis. This review summarizes the recent advances in the molecular aspects of HB with a focus on the pathogenic signaling pathways and tumor markers. Their implications for diagnostics and prognostics are also discussed from a pathologist’s point of view.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"95 10","pages":"217"},"PeriodicalIF":0.0,"publicationDate":"2012-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91522757","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}

引用次数: 3

Weekly Biological Variability of Urinary Organic Acids 每周尿有机酸生物学变异

North American journal of medicine & science Pub Date : 2012-07-31 DOI: 10.7156/V5I3P148

R. Lord, C. Nelson-Dooley, B. C. Morris, J. Bralley

{"title":"Weekly Biological Variability of Urinary Organic Acids","authors":"R. Lord, C. Nelson-Dooley, B. C. Morris, J. Bralley","doi":"10.7156/V5I3P148","DOIUrl":"https://doi.org/10.7156/V5I3P148","url":null,"abstract":"Use of LC-MS/MS methods has improved sample preparation and increased throughput for the measurement of 40 or more organic acids in urine. In order to assess the significance of abnormalities that might be attributed to nutritional inadequacies or other metabolic disturbances, the week-to-week variation of results due to normal physiological responses needs to be established. This study determined the biological variability for 37 organic acids plus hippuric acid, D-arabinitol and 8-hydroxy-2’deoxyguanosine in overnight urine specimens from eight weekly samples submitted by 22 healthy adults. For the 40 analytes, CVb values varied from 12.3 to 74.3. Fourteen of the analytes had CVb values less than 30 and another 19 of them were less than 50. Multiple analytes displayed the property of increasing variability with concentration that may be characteristic of most intermediary metabolites. Linear regression line slopes for CVb vs. concentration were tabulated to assist the use of this information. The 40 analytes display biological variability in the range of disease risk markers such as serum lipoprotein cholesterol concentrations, cancer markers and thyroid hormones. The likelihood of a single measurement being representative of the true mean concentration varies with the analyte and the level found. Data reported here demonstrate reliability of results of urinary organic acid profiling performed under the reported analytical conditions. [N A J Med Sci. 2012;5(3): 148-156.]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"22 1","pages":"148"},"PeriodicalIF":0.0,"publicationDate":"2012-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87162122","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}

引用次数: 2

Biomarkers of Abnormal Energy Metabolism in Children with Autism Spectrum Disorder 自闭症谱系障碍儿童异常能量代谢的生物标志物

North American journal of medicine & science Pub Date : 2012-07-31 DOI: 10.7156/V5I3P141

R. Frye

{"title":"Biomarkers of Abnormal Energy Metabolism in Children with Autism Spectrum Disorder","authors":"R. Frye","doi":"10.7156/V5I3P141","DOIUrl":"https://doi.org/10.7156/V5I3P141","url":null,"abstract":"Biomarkers of mitochondrial disease were studies in 133 consecutive autism spectrum disorder patients to determine the prevalence of abnormalities in biomarkers of mitochondrial disease. Biomarkers included traditional biomarkers of mitochondrial disease (lactate, alanine), fatty-acid oxidation defects (acyl-carnitine panel) and recently described novel biomarkers of detecting mitochondrial dysfunction in individuals with autism spectrum disorder (alanine-to-lysine ratio, creatine kinase, aspartate transaminase). Biomarkers were collected in the morning fasting state. Abnormal biomarker values were verified by repeat testing. For those with abnormal acyl-carnitine panels, secondary disorders of fatty acid metabolism were ruled out. Abnormalities in lactate, alanine-to-lysine ratio and acyl-carnitine panels occurred in over 30% of children on initial testing. Among the patients with abnormal biomarkers who had repeated testing, abnormalities were confirmed about half of the time except for alanine which was only confirmed 20% of the time. Elevation in alanine-to-lysine ratio was associated with epilepsy and elevation in multiple acyl-carnitines was associated with regression. In order to confirm the significance of certain biomarkers, a wide variety of mitochondrial biomarker values were compared between specific subgroups of children with abnormal biomarkers and matched children without any abnormalities in biomarkers. Lactate, alanine-to-lysine ratio and acyl-carnitine panel groups demonstrated abnormalities in multiple mitochondrial biomarkers, confirming the validity of these biomarkers of mitochondrial dysfunction. This study demonstrates that multiple biomarkers of mitochondrial dysfunction are elevated in a significant portion of children with autism spectrum disorder and lend support to the notion that disorders of energy production may affect a significant subset of children with autism.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"43 3","pages":"141"},"PeriodicalIF":0.0,"publicationDate":"2012-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91425339","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}

引用次数: 51

A Mouse Model of Timothy Syndrome: a Complex Autistic Disorder Resulting from a Point Mutation in Cav1.2. Timothy综合征小鼠模型:由Cav1.2点突变引起的复杂自闭症。

North American journal of medicine & science Pub Date : 2012-07-25 DOI: 10.7156/najms.2012.053135

Glenna Cl Bett, Agnieszka Lis, Scott R Wersinger, Joan S Baizer, Michael E Duffey, Randall L Rasmusson

{"title":"A Mouse Model of Timothy Syndrome: a Complex Autistic Disorder Resulting from a Point Mutation in Cav1.2.","authors":"Glenna Cl Bett, Agnieszka Lis, Scott R Wersinger, Joan S Baizer, Michael E Duffey, Randall L Rasmusson","doi":"10.7156/najms.2012.053135","DOIUrl":"https://doi.org/10.7156/najms.2012.053135","url":null,"abstract":"Timothy Syndrome (TS) arises from a point mutation in the human voltage-gated L-type Ca2+ channel (Cav1.2). TS is associated with cardiac arrhythmias and sudden cardiac death, as well as congenital heart disease, impaired cognitive function, and autism spectrum disorders. TS results from a de novo gain-of-function mutation which affects the voltage dependent component of Cav1.2 inactivation. We created a knock-in TS mouse. No homozygous TS mice survived, but heterozygous TS2-NEO mice (with the mutation and the neocassette in situ) had a normal outward appearance and survived to reproductive age. Previously, we have demonstrated that these mice exhibit the triad of Autistic traits. In this paper we document other aspects of these mice including Cav1.2 isoform expression levels, normal physical strength, brain anatomy and a marked propensity towards self-injurious scratching. Gross brain anatomy was not markedly different in TS2-NEO mice compared to control littermates, and no missing structures were noted. The lack of obvious changes in brain structure is consistent with theTS2-NEO mice may provide a significant tool in understanding the role of calcium channel inactivation in both cardiac function and brain development.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"5 3","pages":"135-140"},"PeriodicalIF":0.0,"publicationDate":"2012-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3872133/pdf/nihms-489127.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"31983955","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}

引用次数: 28

Value of Testing at 30°C for the Identification of Cold Alloantibodies in the Presence of Cold Autoantibodies 在存在冷自身抗体的情况下，在30°C下检测冷同种抗体的价值

North American journal of medicine & science Pub Date : 2012-04-30 DOI: 10.7156/V5I2P131

D. W. Wu, P. Hsu, J. Freeman

{"title":"Value of Testing at 30°C for the Identification of Cold Alloantibodies in the Presence of Cold Autoantibodies","authors":"D. W. Wu, P. Hsu, J. Freeman","doi":"10.7156/V5I2P131","DOIUrl":"https://doi.org/10.7156/V5I2P131","url":null,"abstract":"Acute hemolytic transfusion reaction due to hemolytic anti-Lea is a rare phenomenon. We present here a case report of an acute hemolytic transfusion reaction, and demonstrated that an additional procedure of incubation at 30˚C facilitated the identification of a hemolytic anti- Lea in this diagnostic challenged case. A 46 year old man with a history of AIDS and dementia presented with symptomatic anemia. During transfusion of the 2nd unit of packed RBCs, the patient experienced high fever, back pain and dark brown urine. The blood bank and laboratory workup revealed evidence of a quickly resolved acute intravascular hemolysis. Other causes of intravascular hemolysis were ruled out with various laboratory tests. Initial blood bank antibody workup revealed a cold auto-anti-I, and a cold allo-antibody of undetermined specificity. Tests at 30˚C were described by Lawrance Petz and George Garratty for workup of cold autoantibodies at 30˚C. We extrapolated their method to clearly identify a hemolytic anti-Lea with broad thermal amplitude. Phenotyping and crossmatching at 30˚C revealed that the 1st unit was implicated in the acute hemolytic transfusion reaction. This is the first report to successfully identify a hemolytic antiLea using the method at 30˚C for cold allo-antibody workup. [N A J Med Sci. 2012;5(2):131-134.]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"3 1","pages":"131"},"PeriodicalIF":0.0,"publicationDate":"2012-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87362338","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}

引用次数: 0

Recent Progress of DeSUMOylation in Biological Processes: A Mini Review 生物过程中去硫酰基化研究进展综述

North American journal of medicine & science Pub Date : 2012-04-30 DOI: 10.7156/V5I2P071

Bs Wang, Wei-Hsiung Yang

引用次数: 0

Pattern and Evolution of C4d Staining of Ischemic Myocardial Injury: Implications for the Interpretation of Post-Transplant Endomyocardial Biopsies 缺血性心肌损伤的C4d染色模式和进化:移植后心肌内膜活检的意义

North American journal of medicine & science Pub Date : 2012-04-30 DOI: 10.7156/V5I2P064

R. Hudacko, Sumi Varghese, B. Fyfe

引用次数: 3

Acute Erythroid Leukemia: A Review 急性红细胞白血病的研究进展

North American journal of medicine & science Pub Date : 2012-04-30 DOI: 10.7156/V5I2P110

Fcap Daniela Mihova, F. L. Zhang

{"title":"Acute Erythroid Leukemia: A Review","authors":"Fcap Daniela Mihova, F. L. Zhang","doi":"10.7156/V5I2P110","DOIUrl":"https://doi.org/10.7156/V5I2P110","url":null,"abstract":"Acute erythroid leukemia is a rare form of acute myeloid leukemia. It accounts for <5% of all acute myeloid leukemia cases. According to the World Health Organization 2008 classification, it falls under the category of acute myeloid leukemia, not otherwise specified and is further divided into two subtypes: erythroid leukemia (erythroid/myeloid) and pure erythroid leukemia. Currently, erythroleukemia (erythroid/myeloid) is defined as 50% or more erythroid precursors and ≥20% blasts of the non-erythroid cells. By definition, pure erythroid leukemia is composed of ≥80% erythroid precursors. Acute erythroid leukemia is a diagnosis of exclusion and difficulty. This review discusses its differential diagnoses, which present with erythroid proliferation, such as myelodysplastic syndrome with erythroid proliferation, acute myeloid leukemia with myelodysplasia related changes, therapy related acute myeloid leukemia, myeloproliferative neoplasms with erythroblast transformation, acute myeloid leukemia with recurrent genetic abnormalities and other types of hematologic neoplasms. Additionally, reactive conditions such as erythropoietin treatment, vitamin B12 and folate deficiency, toxin exposure and congenital dyserythropoiesis should be excluded. As a result, the frequency of acute erythroid leukemia diagnosis has been reduced. Important adverse prognostic factors will be summarized, including presence of complex cytogenetic karyotype as the most important one. Additional larger studies are needed to better understand acute erythroid leukemia, with a focus on diagnostic tools, its heterogeneity and cytogenetic and molecular characteristics for potential therapeutic targets.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"143 1","pages":"110"},"PeriodicalIF":0.0,"publicationDate":"2012-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78993060","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}

引用次数: 21

Primary Sclerosing Cholangitis: From Pathogenesis to Medical Management 原发性硬化性胆管炎:从发病机制到医疗管理

North American journal of medicine & science Pub Date : 2012-04-30 DOI: 10.7156/V5I2P082

C. Bunchorntavakul, T. Tanwandee, P. Charatcharoenwitthaya, K. Reddy

{"title":"Primary Sclerosing Cholangitis: From Pathogenesis to Medical Management","authors":"C. Bunchorntavakul, T. Tanwandee, P. Charatcharoenwitthaya, K. Reddy","doi":"10.7156/V5I2P082","DOIUrl":"https://doi.org/10.7156/V5I2P082","url":null,"abstract":"Primary sclerosing cholangitis (PSC) is a cholestatic liver disease characterized by progressive inflammatory destruction of intrahepatic and extrahepatic bile ducts. It is strongly associated with inflammatory bowel disease, particularly ulcerative colitis. The pathogenesis of PSC remains unclear, however several hypotheses have been proposed that suggest roles for autoimmunity, genetic susceptibility, and the interaction between microorganisms and host immune response directed at the biliary system. A diagnosis of PSC is based on a constellation of clinical, biochemical, and typical cholangiographic features and usually without the need for liver histopathology. Complications of PSC include pruritus, portal hypertension, bone disease, end-stage liver disease, and cancers. Cholangiocarcinoma eventually develops in 8-15% of PSC patients. A variety of drugs have been evaluated as therapy for PSC, but no therapy has yet been proven to prolong survival or improve outcomes in PSC. Ursodeoxycholic acid (UDCA) has been intensively investigated to address its efficacy in PSC. A recent investigation noted that high-dose UDCA therapy in PSC did not confer benefit on combined clinical and survival endpoints. . Immunosuppressive agents are generally ineffective. Liver transplantation remains the only proven long-term treatment for advanced PSC, with approximately 20-25% risk of disease recurrence. Cancer surveillance, management of cirrhotic complications, and treatment of manifestations of cholestasis in those with PSC are clinically relevant. Further understanding of the pathogenesis of PSC is desperately required in order to effectively improve our current approaches to the management of this disease. [N A J Med Sci. 2012;5(2):82-93.]","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"23 1","pages":"82"},"PeriodicalIF":0.0,"publicationDate":"2012-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86946150","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}

引用次数: 1

Pathology Imaging Informatics for Clinical Practice and Investigative and Translational Research. 病理成像信息学的临床实践和调查和转化研究。

North American journal of medicine & science Pub Date : 2012-04-01 DOI: 10.7156/v5i2p103

Evita T Sadimin, David J Foran

{"title":"Pathology Imaging Informatics for Clinical Practice and Investigative and Translational Research.","authors":"Evita T Sadimin, David J Foran","doi":"10.7156/v5i2p103","DOIUrl":"https://doi.org/10.7156/v5i2p103","url":null,"abstract":"Pathologists routinely interpret gross and microscopic specimens to render diagnoses and to engage in a broad spectrum of investigative research. Multiple studies have demonstrated that imaging technologies have progressed to a level at which properly digitized specimens provide sufficient quality comparable to the traditional glass slides examinations. Continued advancements in this area will have a profound impact on the manner in which pathology is conducted from this point on. Several leading institutions have already undertaken ambitious projects directed toward digitally imaging, archiving, and sharing pathology specimens. As a result of these advances, the use of informatics in diagnostic and investigative pathology applications is expanding rapidly. In addition, the advent of novel technologies such as multispectral imaging makes it possible to visualize and analyze imaged specimens using multiple wavelengths simultaneously. As these powerful technologies become increasingly accepted and adopted, the opportunities for gaining new insight into the underlying mechanisms of diseases as well as the potential for discriminating among subtypes of pathologies are growing accordingly.","PeriodicalId":19338,"journal":{"name":"North American journal of medicine & science","volume":"5 2","pages":"103-109"},"PeriodicalIF":0.0,"publicationDate":"2012-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3407842/pdf/nihms389216.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30805906","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}

引用次数: 12