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101.
Can EGFR mutation status be reliably determined in pre‐operative needle biopsies from adenocarcinomas of the lung? 下载免费PDF全文
Kim Hein Lindahl Flemming Brandt Sørensen Søren Peter Jonstrup Karen Ege Olsen Siegfried Loeschke 《APMIS : acta pathologica, microbiologica, et immunologica Scandinavica》2015,123(4):289-297
The identification of EGFR mutations in non‐small‐cell lung cancer is important for selecting patients, who may benefit from treatment with EGFR tyrosine kinase inhibitors. The analysis is usually performed on cytological aspirates and/or histological needle biopsies, representing a small fraction of the tumour volume. The aim of the present investigation was to evaluate the diagnostic performance of this molecular test. We retrospectively included 201 patients with primary adenocarcinoma of the lung. EGFR mutation status (exon 19 deletions and exon 21 L858R point mutation) was evaluated on both pre‐operative biopsies (131 histological and 70 cytological) and on the surgical specimens, using PCR. Samples with low tumour cell fraction were assigned to laser micro‐dissection (LMD). We found nine (4.5%) patients with EGFR mutation in the lung tumour resections, but failed to identify mutation in one of the corresponding pre‐operative, cytological specimens. Several (18.4%) analyses of the pre‐operative biopsies were inconclusive, especially in case of biopsies undergoing LMD and regarding exon 21 analysis. Discrepancy of mutation status in one patient may reflect intra‐tumoural heterogeneity or technical issues. Moreover, several inconclusive results in the diagnostic biopsies reveal that attention must be paid on the suitability of pre‐operative biopsies for EGFR mutation analysis. 相似文献
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B.B. Damian T.C.S. Bonetti D.D.G. Horovitz 《Brazilian journal of medical and biological research》2015,48(1):25-33
Preimplantation genetic diagnosis (PGD) was originally developed to diagnose
embryo-related genetic abnormalities for couples who present a high risk of a
specific inherited disorder. Because this technology involves embryo selection, the
medical, bioethical, and legal implications of the technique have been debated,
particularly when it is used to select features that are not related to serious
diseases. Although several initiatives have attempted to achieve regulatory
harmonization, the diversity of healthcare services available and the presence of
cultural differences have hampered attempts to achieve this goal. Thus, in different
countries, the provision of PGD and regulatory frameworks reflect the perceptions of
scientific groups, legislators, and society regarding this technology. In Brazil,
several texts have been analyzed by the National Congress to regulate the use of
assisted reproduction technologies. Legislative debates, however, are not conclusive,
and limited information has been published on how PGD is specifically regulated. The
country requires the development of new regulatory standards to ensure adequate
access to this technology and to guarantee its safe practice. This study examined
official documents published on PGD regulation in Brazil and demonstrated how little
direct oversight of PGD currently exists. It provides relevant information to
encourage reflection on a particular regulation model in a Brazilian context, and
should serve as part of the basis to enable further reform of the clinical practice
of PGD in the country. 相似文献
103.
Discordant Electrocardiogram Left Ventricular Wall Thickness and Strain Findings in Influenza Myocarditis 下载免费PDF全文
Nael Hawwa M.D. Zoran B. Popovic M.D. Ph.D. Hussain A. Isma'eel M.D. 《Echocardiography (Mount Kisco, N.Y.)》2015,32(12):1880-1884
A 42‐year‐old man presented with a viral prodrome and tested positive for influenza A. He rapidly deteriorated developing cardiogenic shock, rhabdomyolysis, and acute kidney injury. Patient improved 1 week later with supportive measures including vasopressors, inotropes, and an intraaortic balloon pump. We report this case as it highlights the discordance between echocardiographic ventricular wall thickening as a result of myocardial edema, and electrocardiographic findings at presentation, with a reversal in findings at time of resolution. Additionally, there was some suggestion of a regional pattern to the reduced longitudinal strain. 相似文献
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BACKGROUND Metabolic disturbances including changes in serum calcium,magnesium or phosphate(P) influence the prevalence of type 2 diabetes mellitus(DM).We assessed the importance of serum P in elderly patients with type 2 DM vs nondiabetes mellitus(non-DM) in relation to renal function.AIM To determine the association between serum P and serum glucose or insulin resistance in diabetic and non-diabetic patients.METHODS One hundred-ten subjects with a mean age of 69.02±14.3 years were enrolled.Twenty-nine of the participants had type 2 DM(26.4%).The incidence of hypertension,smoking and receiving vitamin D(vitD) derivates were recorded.The participants were classified by both estimated glomerular filtration rate(eGFR) and albuminuria categories according to the Kidney Disease Improving Global Outcomes 2012 criteria.RESULTS We divided the patients in two groups according to the P cut-off point related to DM value.A comparison between high and low P showed that body mass index30.2±6.3 vs 28.1±4.6(P=0.04),mean glucose 63.6 vs 50.2(P=0.03),uric acid 6.7±1.6 vs 6.09±1.7(P=0.05),mean intact-parathyroid hormone 68.06 vs 47.4(P=0.001),systolic blood pressure 147.4±16.7 vs 140..2±16.1(P=0.02),mean albuminuria 63.2 vs 50.6(P=0.04) and eGFR 45.6±22.1 vs 55.4±21.5(P=0.02)were significantly different.χ~2 tests showed a significant association between high P and DM,hypertension,receiving vitD,smoking and eGFR stage(χ~2=6.3,P=0.01,χ~2=3.9,P=0.03,χ~2=6.9,P=0.009,χ~2=7.04,P=0.01 and χ~2=7.36,P=0.04,respectively).The adjusted model showed that older age,female gender and increased body mass index were significant predictors of type 2 DM when entering the covariates.CONCLUSION High serum P contributes to vascular and metabolic disturbances in elderly patients with type 2 DM and renal impairment. 相似文献
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Nicole D. Facompre Pavithra Rajagopalan Varun Sahu Alexander T. Pearson Kathleen T. Montone Claire D. James Frederico O. Gleber-Netto Gregory S. Weinstein Jalal Jalaly Alexander Lin Anil K. Rustgi Hiroshi Nakagawa Joseph A. Califano Curtis R. Pickering Elizabeth A. White Bradford E. Windle Iain M. Morgan Roger B. Cohen Phyllis A. Gimotty Devraj Basu 《International journal of cancer. Journal international du cancer》2020,147(11):3236-3249
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