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| 1 | Heart disease in Friedreich's ataxia显示文摘Friedreich's ataxia(FRDA), which occurs in 1/50000 live births, is the most prevalent inherited neuromuscular disorder. Nearly all FRDA patients develop cardiomyopathy at some point in their lives. The clinical manifestations of FRDA include ataxia of the limbs and trunk, dysarthria, diabetes mellitus, and cardiac diseases. However, the broad clinical spectrum makes FRDA difficult to identify.The diagnosis of FRDA is based on the presence of suspicious clinical factors, the use of the Harding criteria and, more recently, the use of genetic testing for identifying the expansion of a triplet nucleotide sequence. FRDA is linked to a defect in the mitochondrial protein frataxin; an epigenetic alteration interferes with the folding of this protein, causing a relative deficiency of frataxin in affected patients. Frataxins are small essential proteins whose deficiency causes a range of metabolic disturbances, including oxidative stress, iron-sulfur cluster deficits, and defects in heme synthesis, sulfur amino acid metabolism, energy metabolism, stress responses, and mitochondrial function. The cardiac involvement seen in FRDA is a consequence of mitochondrial proliferation as well as the loss of contractile proteins and the subsequent development of myocardial fibrosis. The walls of the left ventricle become thickened, and different phenotypic manifestations are seen, including concentric or asymmetric hypertrophy and(less commonly) dilated cardiomyopathy. Dilated cardiomyopathy and arrhythmia are associated with mortality in patients with FRDA, whereas hypertrophic cardiomyopathy is not. Systolic function tends to be low-normal in FRDA patients, with an acute decline at the end of life.However, the literature includes only a few long-term prospective studies of cardiac progression in FRDA, and the cause of death is often attributed to heart failure and arrhythmia postmortem. Cardiomyopathy tends to be correlated with the clinical neurologic age of onset and the nucleotide triplet repeat length(i.e.,markers of phenotypic disease severity) rather than the duration of disease or the severity of neurologic symptoms. As most patients are wheelchair-bound within15 years of diagnosis, the clinical determination of cardiac involvement is often complicated by comorbidities. Researchers are currently testing targeted therapies for FRDA, and a centralized database, patient registry, and natural history study have been launched to support these clinical trials. The present review discusses the pathogenesis, clinical manifestations, and spectrum of cardiac disease in FRDA patients and then introduces gene-targeted and pathology-specific therapies as well as screening guidelines that should be used to monitor cardiac disease in this mitochondrial disorder. | Emily Hanson Mark Sheldon Brenda Pacheco Mohammed Alkubeysi Veena Raizada | 2019 | World Journal of Cardiology2019，11，1： | 2 |
| 2 | Enhanced NO x reduction by interaction of nitrogen and sodium compounds in the reburning zone显示文摘 | Vladimir M. Zamansky Mark S. Sheldon Peter M. Maly | 1998 | Symposium (International) on Combustion1998，，2： | 1 |
| 3 | Differences in recommendations between the Allergic Rhinitis and its Impact on Asthma Update 2010 and US Rhinitis Practice Parameters显示文摘 | Bradley Chipps Sheldon Spector Judith Farrar Warner Carr Eli Meltzer William Storms Michael Kaliner Allan Luskin Donald Bukstein John Oppenheimer Brian Smart Jenifer Derebery Julia Harder Mark Dykewicz Michael Benninger | 2011 | The Journal of Allergy and Clinical Immunology2011，，6： | 1 |
| 4 | Diagnostic Performance of PCA3 to Detect Prostate Cancer in Men with Increased Prostate Specific Antigen: A Prospective Study of 1,962 Cases显示文摘 | E. David Crawford Kyle O. Rove Edouard J. Trabulsi Junqi Qian Krystyna P. Drewnowska Jed C. Kaminetsky Thomas K. Huisman Mark L. Bilowus Sheldon J. Freedman W. Lloyd Glover David G. Bostwick | 2012 | The Journal of Urology2012，，5： | 1 |
| 5 | Molecular phylogenetic analysis of the Grey-cheeked Fulvetta ( Alcippe morrisonia ) of China and Indochina: A case of remarkable genetic divergence in a “species”显示文摘 | Fasheng Zou Haw Chuan Lim Ben D. Marks Robert G. Moyle Frederick H. Sheldon | 2006 | Molecular Phylogenetics and Evolution2006，，： | 1 |
| 6 | Injection of Allogeneic Bone Marrow Cells into the Portal Vein of Swine in Utero显示文摘 | J.Peter Rubin Sheldon R. Cober Peter E.M. Butler Mark A. Randolph G.Scott Gazelle Francisco L. Ierino David H. Sachs W.P.Andrew Lee | 2000 | Journal of Surgical Research2000，，2： | 1 |
| 7 | Molecular phylogenetic analysis of the Grey-cheeked Fulvetta (Alcippe morrisonia) of China and Indochina:A case of remarkable genetic divergence in a 'species'显示文摘 | Zou F Lim HC Marks BD Moyle RG Sheldon FH | | 0，，： | 1 |
| 8 | The Average Mutual Information Profile as a Genomic Signature显示文摘 | Mark Bauer Sheldon M Schuster Khalid Sayood | 2008 | BMC Bioinformatics2008，，01： | 1 |
| 9 | Epidemiologic marker system for Citrobacter diversus using outer membrane protein profiles显示文摘 | Mark WK Edward OM Jr Sheldon LK | 1989 | J Clin Microbiol1989，30，2： | 1 |
| 10 | Skin allograft survival following intrathymic injection of donor bone marrow显示文摘 | SHELDON R C MARK A RANDOLPH ANDREW W P | 1999 | Journal of Surgical Research1999，85，： | 1 |
| 11 | Comments by opponents on the British Medical Association’s guidance on non-therapeutic male circumcision of children seem one-sided and may undermine public health显示文摘The British Medical Association(BMA)guidance on non-therapeutic circumcision(NTMC)of male children is limited to ethical,legal and religious issues.Here we evaluate criticisms of the BMA’s guidance by Lempert et al.While their arguments promoting autonomy and consent might be superficially appealing,their claim of high procedural risks and negligible benefits seem one-sided and contrast with high quality evidence of low risk and lifelong benefits.Extensive literature reviews by the American Academy of Pediatrics and the United States Centers for Disease Control and Prevention in developing evidence-based policies,as well as risk-benefit analyses,have found that the medical benefits of infant NTMC greatly exceed the risks,and there is no reduction in sexual function and pleasure.The BMA’s failure to consider the medical benefits of early childhood NTMC may partly explain why this prophylactic intervention is discouraged in the United Kingdom.The consequence is higher prevalence of preventable infections,adverse medical conditions,suffering and net costs to the UK’s National Health Service for treatment of these.Many of the issues and contradictions in the BMA guidance identified by Lempert et al stem from the BMA’s guidance not being sufficiently evidence-based.Indeed,that document called for a review by others of the medical issues surrounding NTMC.While societal factors apply,ultimately,NTMC can only be justified rationally on scientific,evidence-based grounds.Parents are entitled to an accurate presentation of the medical evidence so that they can make an informed decision.Their decision either for or against NTMC should then be respected. | Stephen Moreton Guy Cox Mark Sheldon Stefan A Bailis Jeffrey D Klausner Brian J Morris | 2023 | World Journal of Clinical Pediatrics2023，12，5： | 0 |
| 12 | 非晶态木质纳米纤维素机械特性的建模显示文摘为提高对以木纤维为填充材料的复合材料的理解和性能分析,对木质纳米纤维素中的非晶态结构进行分子建模与拉伸变形仿真研究。通过对纳米纤维素非晶态结构进行周期性边界条件建模,在能量最小化和热平衡后,基于ReaxFF力场用开源代码程序LAMMPS对模型进行拉伸变形仿真,模拟原子间的相互作用,对其数据结果采用MATLAB进行后处理分析,并采用可视化开源软件Atomeye对变形过程进行监控。通过所建模型仿真研究数据,可以计算得到木质纳米纤维素纳观尺度的机械特性,求得纳观结构中应力—应变曲线,将其同实验数据相比较,用于预测材料宏观尺度各特性以及本构关系。该研究为今后分析高分子聚合物和纤维素的纳米微观界面相容性打下基础,能更好地理解高分子纤维聚合材料的力学性能。 | 张秀梅 曹军 仇逊超 Mark A Tschopp Mark Horstemeyer Sheldon Shi | 2012 | 东北林业大学学报2012，40，12： | 0 |
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