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排序方式: 共有280条查询结果,搜索用时 15 毫秒
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Rabia Faridi Rizwan Yousaf Shoujun Gu Sayaka Inagaki Amy E. Turriff Keith Pelstring Bin Guan Amelia Naik Andrew J. Griffith Samuel Mawuli Adadey Elvis Twumasi Aboagye Gordon A. Awandare Robert J. Morell Ekaterini Tsilou Amanda G. Noyes Laura A. G. Sulmonte Ambroise Wonkam Isabelle Schrauwen Suzanne M. Leal Hela Azaiez Carmen C. Brewer Sheikh Riazuddin Robert B. Hufnagel Michael Hoa Wadih M. Zein J. Karl de Dios Thomas B. Friedman 《Clinical genetics》2023,103(6):699-703
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Edgard Eduard Engel MD PhD María Sol Brassesco PhD Elvis Terci Valera MD PhD Marcello Henrique Nogueira‐Barbosa MD PhD Maurício Eiji de Almeida Santos Yamashita MD Carlos Alberto Scrideli MD PhD Luiz Gonzaga Tone MD PhD 《Pediatric blood & cancer》2012,59(7):1320-1323
Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6‐year‐old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,‐X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor. Pediatr Blood Cancer 2012; 59: 1320–1323. © 2012 Wiley Periodicals, Inc. 相似文献
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Karen Y. Kwok Timmy L. S. Choi Wai Him Kwok Ming Yip Lau Elvis M. K. Leung Gary N. W. Leung Jenny K. Y. Wong Terence S. M. Wan Farrington F. Adrian Anil Prabhu Emmie N. M. Ho 《Drug testing and analysis》2020,12(9):1274-1286
The use of bioactive peptides as a doping agent in both human and animal sports has become increasingly popular in recent years. As such, methods to control the misuse of bioactive peptides in equine sports have received attention. This paper describes a sensitive accurate mass method for the detection of 40 bioactive peptides and two non‐peptide growth hormone secretagogues (< 2 kDa) at low pg/mL levels in horse urine using ultra‐high performance liquid chromatography‐high resolution mass spectrometry (UHPLC/HRMS). A simple mixed‐mode cation exchange solid‐phase extraction (SPE) cartridge was employed for the extraction of 42 targets and/or their in vitro metabolites from horse urine. The final extract was analyzed using UHPLC/HRMS in positive electrospray ionization (ESI) mode under both full scan and data independent acquisition (DIA, for MS2). The estimated limits of detection (LoD) for most of the targets could reach down to 10 pg/mL in horse urine. This method was validated for qualitative detection purposes. The validation data, including method specificity, method sensitivity, extraction recovery, method precision, and matrix effect were reported. A thorough in vitro study was also performed on four gonadotrophin‐releasing factors (GnRHs), namely leuprorelin, buserelin, goserelin, and nafarelin, using the S9 fraction isolated from horse liver. The identified in vitro metabolites have been incorporated into the method for controlling the misuse of GnRHs. The applicability of this method was demonstrated by the identification of leuprorelin and one of its metabolites, Leu M4, in urine obtained after intramuscular administration of leuprorelin to a thoroughbred gelding (castrated horse). 相似文献
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Elvis Cami Travis Tagami Gilbert Raff Michael J. Gallagher Austin Fan Adam Hafeez Stacy J. Willner Priscilla Sigua Arce Julie George Abhay Bilolikar Kavitha Chinnaiyan Robert D. Safian 《Journal of Cardiovascular Computed Tomography》2021,15(2):114-120
BackgroundValues of fractional flow reserve (FFRCT) by coronary computed tomography angiography (CTA) decline from the ostium to the terminal vessel, irrespective of stenosis severity. The purpose of this study is to determine if the site of measurement of FFRCT impacts assessment of ischemia and its diagnostic performance relative to invasive FFR (FFRINV).Methods1484 patients underwent FFRCT; 1910 vessels were stratified by stenosis severity (normal; <25%, 25–50%, 50–70%, and >70% stenosis). The rates of positive FFRCT (≤0.8) were determined by measuring FFRCT from the terminal vessel and from distal-to-the-lesion. Reclassification rates from positive to negative FFRCT were calculated. Diagnostic performance of FFRCT relative to FFRINV was evaluated in 182 vessels using linear regression, Bland Altman analysis, and receiver operating characteristic (ROC) curves.ResultsPositive FFRCT was identified in 24.9% of vessels using terminal vessel FFRCT and 10.1% using FFRCT distal-to-the-lesion (p ?< ?0.001). FFRCT obtained distal-to-the-lesion resulted in reclassification of 59.6% of positive terminal FFRCT to negative FFRCT. Relative to FFRINV, there were improvements in specificity (50% to 86%, p ?< ?0.001), diagnostic accuracy (65% to 88%, p ?< ?0.001), positive predictive value (50% to 78%, p ?< ?0.001), and area-under-the-curve (AUC, 0.83 to 0.91, p ?< ?0.001) when FFRCT was measured distal-to-the-lesion.ConclusionFFRCT values from the terminal vessel should not be used to assess lesion-specific ischemia due to high rates of false positive results. FFRCT measured distal-to-the-lesion improves the diagnostic performance of FFRCT relative to FFRINV, ensures that FFRCT values are due to lesion-specific ischemia, and could reduce the rate of unnecessary invasive procedures. 相似文献
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de Sousa Graziella Ribeiro Lira Régia Caroline Peixoto de Almeida Magalhães Taciani da Silva Keteryne Rodrigues Nagano Luis Fernando Peinado Saggioro Fabiano Pinto Baroni Mirella Marie Suely Kazue Nagahashi Oba-Shinjo Sueli Mieko Brandelise Silvia de Paula Queiroz Rosane Gomes Brassesco María Sol Scrideli Carlos Alberto Tone Luiz Gonzaga Valera Elvis Terci 《Journal of molecular medicine (Berlin, Germany)》2021,99(8):1101-1113
Journal of Molecular Medicine - Although ependymoma (EPN) molecular subgroups have been well established by integrated high-throughput platforms, low- and middle-income countries still need... 相似文献
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Leopoldo Luiz Dos SANTOS‐NETO Elvis Henrique Santos ANDRADE Patrícia Eiko YAMAKAWA Carlos Hirokatsu WATANABE SILVA 《International journal of rheumatic diseases》2007,10(2):140-142
Both Sjögren's syndrome and rosacea present clinical manifestations that include ocular involvement. We report a case of a 45‐year‐old woman with a history of persistent erythematous malar rash, associated with conjunctival hyperemia, xerophthalmia and blefaritis. The patient filled the current classification criteria proposed for Sjögren's syndrome and those for rosacea. The coexistence of these diseases has not been previously described in the literature. Both diseases have similar symptoms and different treatment approaches. We believe that it is important for clinicians to identify this association in order to provide better care for the patient. 相似文献