Background Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disease caused by a germline mutation in the STK11 gene. It is characterized by mucocutaneous pigmentation, gastrointestinal hamartomatous polyps, and cancer predisposition. Aims We aimed to summarize the main clinical and genetic features of Chinese PJS patients and assessed the genotype-phenotype correlations. Methods Thirty-eight patients clinically diagnosed with Peutz-Jeghers syndrome were included in this study from 2016 to 2019. selleck chemicals llc Combined direct sequencing and multiplex ligation-dependent probe amplification tests were used to detect germline heterogeneous STK11 mutations. RNA sequencing was performed in polyps of PJS patients and control groups to evaluate the difference in expression of STK11. The genotype-phenotype correlations were calculated by Kaplan-Meier analyses. Results All 26 probands and 12 affected relatives had germline heterogeneous STK11 mutations among which 8 variants were novel. Individuals with missense mutations had their first surgery and other symptoms significantly later than individuals with null mutations. Conclusion This study expanded the spectrum of STK11 gene mutations and further elucidated individuals with null mutations of STK11 typically had an earlier onset of PJS symptoms and needed earlier management.Objective To assess the benefits of statins on lipid profile in kidney transplant recipients via a meta-analysis. Methods We systematically identified peer-reviewed clinical trials, review articles, and treatment guidelines from PubMed, Embase, the Cochrane Library, Wanfang, Chinese National Knowledge Infrastructure (CNKI), SinoMed (CBM), and Chongqing VIP databases from inception to April 2019. In the analysis, only randomized controlled clinical trials performed in human were included. Results Eight articles were included in the analysis, involving 335 kidney transplant recipients who received statins and 350 kidney transplant patients as the control group. Results revealed that statins improved the lipid profile of kidney transplant recipients. Specifically, statin therapy significantly reduced total cholesterol and low-density lipoprotein cholesterol. However, it had no effects on high-density lipoprotein cholesterol and triglyceride levels. Conclusions The present study provides valuable knowledge on the potential benefits of statins in kidney transplant recipients. This meta-analysis shows that statin therapy modifies the lipid profile in this patient population.Identification and clinical translation of routinely tested biomarkers require a complex and multistep workflow. Here, we described a confirmatory process estimating the utility of previously identified candidate tissue miRNAs for diagnosis of prostate cancer (PCa). RNA was isolated from formalin-fixed paraffin-embedded (FFPE) prostate tissue surgically resected from 44 patients with PCa and 24 patients with benign prostate hyperplasia (BPH). Of the 92 RNA samples obtained, 68 represented 42 malignant (PCa) areas and 26 represented nonmalignant (PCa 0%) areas of the prostate tissue sections. The levels of miR-32-5p, miR-183-5p, miR-141-5p, miR-187-3p, miR-375, miR-663b, miR-615-3p, miR-205-5p, miR-221-3p, and miR-222-3p were evaluated using Exiqon chemistry. Five (miR-32-5p, miR-141-5p, miR-187-3p, miR-375, and miR-615-3p), one (miR-32-5p), and two (miR-32-5p and miR-141-5p) miRNAs discriminated between BPH and areas of cancer-bearing prostate tissue harboring different numbers of cancer cells (PCa 15-70%, PCa 2-10%, and PCA 0%, respectively), with an area under the receiver operating characteristics curve (AUC-ROC) > 0.9. Only miRNA 32-5p discriminated BPH specimens from sections of cancer-bearing prostate tissue with a low percentage, a high percentage, or no dysplastic cells. miR-32-5p could be considered as potential diagnostic biomarker discriminating BPH from noncancerous areas within cancer-bearing prostate tissue. However, further clinical studies are warranted to confirm its diagnostic utility.Objective To determine if osteosarcoma (OS) and Ewing sarcoma (EWS) of the pelvis based on MRI can be differentiated using radiomic analysis. Materials and methods In this study, 3.0 T magnetic resonance (MR) data of 66 patients (40 males and 26 females, mean age 27.6 ± 13.9 years) with pathologically confirmed OS or EWS of the pelvis (35 with OS and 31 with EWS) taken from April 2013 to December 2017 were retrospectively reviewed. T2-weighted fat-saturated (T2-FS) and contrast-enhanced T1-weighted (CET1) images were manually segmented, and imaging features were extracted. Independent-sample t-test, Spearman’s test, and the least absolute shrinkage and selection operator (LASSO) method were used to select the most useful features from the original data set. The performance of radiomic analysis was investigated by the area under the receiver operating characteristic (ROC) curve (AUC) analysis. Results 385 initial features were extracted from T2-FS and CET1 MR data. Nine features from T2-FS and 7 features from CET1 were selected by using the LASSO method. The radiomic analysis to differentiate OS and EWS of the pelvis based on T2-FS and CET1 images using the aforementioned selected features achieved AUC values of 0.881 (95% confidence interval (CI) 0.799-0.963) and 0.765 (95% CI 0.652-0.878), respectively. Conclusion Radiomic analysis showed potential in differentiating OS from EWS of the pelvis, in which T2-FS demonstrated better diagnostic value. To differentiate OS from EWS of the pelvis using our multiparametric MRI-based radiomic analysis could preoperatively improve diagnostic accuracy and greatly contribute to therapy planning.Purpose The detection of long noncoding RNA (lncRNA) is a novel method for breast cancer diagnosis. The purpose of this meta-analysis was to evaluate the clinical significance of lncRNAs in identification of human breast cancer. Methods Electronic databases, including PubMed (176), EMBASE (167), Cochrane Library (4), Web of Science (273), CNKI (41), VIP (18), and wanfang (21), were searched for relevant original articles. Diagnostic capacity of lncRNAs was assessed by pooled sensitivity and specificity, area under the summary receiver operating characteristic curve (AUC), diagnostic odds ratio (DOR), and subgroup and meta-regression analysis. Stata and Meta-Disc software were used to conduct the meta-analysis. Results 33 articles including 4500 cases were identified in our meta-analysis. lncRNAs sustained a high diagnostic efficacy; the pooled sensitivity, specificity, AUC, and DOR of lncRNAs in differentiating BC from controls were 0.74 (95% CI 0.69-0.78), 0.78 (95% CI 0.72-0.83), 0.82 (95% CI 0.79-0.85), and 10.