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Next generation sequencing (NGS) has been a handy tool in clinical practice, mainly due to its efficiency and cost-effectiveness. It has been widely used in genetic diagnosis of several inherited diseases, and, in clinical oncology, it may enhance the discovery of new susceptibility genes and enable individualized care of cancer patients. In this context, we explored a pan-cancer panel in the investigation of germline variants in Brazilian patients presenting clinical criteria for hereditary cancer syndromes or familial history.

Seventy-one individuals diagnosed or with familial history of hereditary cancer syndromes were submitted to custom pan-cancer panel including 16 high and moderate penetrance genes previously associated with hereditary cancer syndromes (APC, BRCA1, BRCA2, CDH1, CDKN2A, CHEK2, MSH2, MSH6, MUTYH, PTEN, RB1, RET, TP53, VHL, XPA and XPC). All pathogenic variants were validated by Sanger sequencing.

We identified a total of eight pathogenic variants among 12 of 71 individuals (16.9%).pathogenic variants related to hereditary cancer syndromes but also of some VUS that need further clinical and molecular investigations. The results obtained in this study had a significant impact on patients and their relatives since it allowed genetic counselling and personalized management decisions.
Flap endonuclease 1 (FEN1) is a structure-specific nuclease that plays a role in a variety of DNA metabolism processes. FEN1 is important for maintaining genomic stability and regulating cell growth and development. It is associated with the occurrence and development of several diseases, especially cancers. There is a lack of systematic bibliometric analyses focusing on research trends and knowledge structures related to FEN1.

To analyze hotspots, the current state and research frontiers performed for FEN1 over the past 15 years.

Publications were retrieved from the Web of Science Core Collection (WoSCC) database, analyzing publication dates ranging from 2005 to 2019. JAK pathway VOSviewer1.6.15 and Citespace5.7 R1 were used to perform a bibliometric analysis in terms of countries, institutions, authors, journals and research areas related to FEN1. A total of 421 publications were included in this analysis.

Our findings indicated that FEN1 has received more attention and interest from researchers in the past 15 In addition, emerging hotspots for research can be used as the subjects of future studies.
Pulmonary metastasectomy (PM) is an established treatment for selected patients with metastatic sarcomas. The aim of this study was to examine our institutional experience and evaluate factors predicting outcome.

We retrospectively reviewed all patients undergoing PM for bone sarcoma in our center from 2001 to 2019. Survival was calculated from the date of PM. Impact on survival of clinical parameters was assessed.

Thirty-eight patients (27 males, 71%) were included. Histology was osteosarcoma (n = 20, 53%), Ewing sarcoma (n = 13, 34%) and chondrosarcoma (n = 5, 13%). Twelve patients (31.5%) had synchronous metastases, all received chemotherapy before PM. Median number of metastases was 3 (1 to 29). Twenty (53%) patients had mediastinal lymph node sampling. One patient had positive lymph nodes. Ninety-day mortality was 0%. Three and 5-year PFS were 24.5 and 21%, respectively. Three and 5-year OS were 64.5 and 38.5%, respectively. More than three metastases and progression under chemotherapy were significant independent predictors for OS.

PM is a safe procedure and encouraging long-term outcome can be achieved. Patients with progression of pulmonary metastases under chemotherapy as well as patients with more than three metastases had significantly worse OS.
PM is a safe procedure and encouraging long-term outcome can be achieved. Patients with progression of pulmonary metastases under chemotherapy as well as patients with more than three metastases had significantly worse OS.
Acute kidney injury (AKI) represents a serious complication following cardiac surgery. Adverse outcome after cardiac surgery has been observed in the presence of elevated levels of soluble urokinase-type plasminogen activator receptor (suPAR) and high-sensitivity C-Reactive Protein (hsCRP). The aim of study was (i) to investigate the relationship between preoperative elevated levels of suPAR and hsCRP and postoperative AKI in unselected cardiac surgery patients and (ii) to assess whether the concentration of the biomarkers reflected severity of AKI.

In a retrospective observational study, biobank blood plasma samples (n = 924) from patients admitted for elective on-pump cardiac surgery were analysed for suPAR and hsCRP levels. The relation between suPAR and hsCRP-values and AKI (any stage), defined by the KDIGO (Kidney Disease Improving Global Outcomes) criteria, was assessed using adjusted logistic regression. Further, the association between biomarkers and severity (KDIGO 1, KDIGO 2-3 and renal replacement therapy (RRT)) was assessed using adjusted logistic regression.

Postoperative AKI (any stage) was observed in 327 patients (35.4 %). A doubling of preoperative suPAR corresponded to an adjusted odds ratio (OR) for postoperative AKI (any stage) of 1.62 (95 % CI 1.26-2.09, p < 0.001). Furthermore, a doubling of suPAR had an adjusted OR of 1.50 (95 % CI 1.16-1.93, p = 0.002), 2.44 (95 % CI 1.56-3.82, p < 0.001) and 1.92 (95 % CI 1.15-3.23, p = 0.002), for KDIGO 1, KDIGO 2-3 and need for RRT, respectively. No significant association was found between elevated levels of hsCRP and any degree of AKI.

Increasing levels of suPAR, but not hsCRP, were associated with development and severity of AKI following on-pump cardiac surgery.
Increasing levels of suPAR, but not hsCRP, were associated with development and severity of AKI following on-pump cardiac surgery.
Intravenous thrombolysis (IVT) is a rapid and effective treatment in the early stage of ischemic stroke patients and the purpose of this work is to explore the significance of Hounsfield unit (HU) value in Alberta Stroke Program Early CT Score (ASPECTS) for predicting the clinical prognosis of stroke patients with middle cerebral artery occlusion (MCAO) treated by IVT.

The 84 stroke patients with MCAO treated by IVT were divided into good prognosis group (48 cases) and poor prognosis group (36 cases). HU ratio and HU difference calculated from non-contrast computed tomography between groups were analyzed.

The HU ratio of good prognosis group was higher than that in poor prognosis group and the HU difference of good prognosis group was lower than that in poor prognosis group (P < 0.05). The HU ratio and ASPECTS were negatively correlated with the infarct volume, and the HU difference was positively correlated with the infarct volume (P < 0.05). HU difference was an independent risk factor for prognosis of patients with MCAO treated by IVT.
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