Pancreatic cancer is a highly lethal malignancy with few effective therapies. We performed exome sequencing and copy number analysis to define genomic aberrations in a prospectively accrued clinical cohort (n = 142) of early (stage I and II) sporadic pancreatic ductal adenocarcinoma. Detailed analysis of 99 informative tumours identified substantial heterogeneity with 2,016 non-silent mutations and 1,628 copy-number variations. We define 16 significantly mutated genes, reaffirming known mutations (KRAS, TP53, CDKN2A, SMAD4, MLL3, TGFBR2, ARID1A and SF3B1), and uncover novel mutated genes including additional genes involved in chromatin modification (EPC1 and ARID2), DNA damage repair (ATM) and other mechanisms (ZIM2, MAP2K4, NALCN, SLC16A4 and MAGEA6). Integrative analysis with in vitro functional data and animal models provided supportive evidence for potential roles for these genetic aberrations in carcinogenesis. Pathway-based analysis of recurrently mutated genes recapitulated clustering in core signalling pathways in pancreatic ductal adenocarcinoma, and identified new mutated genes in each pathway. We also identified frequent and diverse somatic aberrations in genes described traditionally as embryonic regulators of axon guidance, particularly SLIT/ROBO signalling, which was also evident in murine Sleeping Beauty transposon-mediated somatic mutagenesis models of pancreatic cancer, providing further supportive evidence for the potential involvement of axon guidance genes in pancreatic carcinogenesis.
To establish relation between fetal MCA’s PSV in 3rd trimester and fetal anemia as non-invasive method. The study was done retrospectively, including 40 pregnant women who had raised PSV of MCA (Multiple of Median(MoM) >1.5) blood flow in third trimester and was correlated with the new born’s Hemoglobin and Blood indices (MCV and MCH). Forty fetuses who had MCA’s PSV more than 1.5 MoM(coming out to be around 66.50 ± 12.35 cm/seconds), after delivery, blood samples of these 40 neonate were taken, of which 37 were anemic based on hemoglobin and blood indices using reference range from study done by kumar et al8. Sensitivity was 92.5% and specificity around 88 %. Doppler spectral analysis of PSV of MCA is very reliable for predicting fetal anemia. MoM of PSV of Fetal MCA correlates very well with MoM of Neonatal Hemoglobin . Thus, fetal MCA’s PSV is very potential to replace invasive method for diagnosis of fetal anemia.
Introduction: Diagnosis of abdominal trauma is a real challenge that helps the treating doctor in optimum management of abdominal trauma which include Diagnostic peritoneal lavage (DPL), Extended-Focused Assessment with Sonography for Trauma (FAST) and CT scan. Objectives: The aim of this study is to define the recent role of E-FAST in the diagnosis of abdominal trauma. Material and methods: Aim of the study is to evaluate patients coming to the department of Radiodiagnosis of Dhiraj General hospital with USG. Total number of patients are 50. Results: Out of 50 patients of abdominal trauma, 9 patients (22%) were in age group 21-30 years the commonest mode of trauma was road accident according for 54% of total cases. In this study, more commonly injured organs are liver, spleen and kidney. USG showed overall sensitivity 57.48% and specificity 97.77%. Conclusion: E-FAST is useful as the initial diagnostic tool for abdominal trauma. With proper training and understanding limitations of ultrasound, the results of E-FAST can be optimized.
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