Allosteric and energetic power over RNAdependent RNA polymerase function and also fidelity

Objective To explore the value of preoperative neutrophil-to-lymphocyte ratio (NLR) and γ-glutamyl transpeptidase-to-platelet ratio index (GPRI) for predicting the prognosis of patients with HBV-related intrahepatic cholangiocarcinoma (ICC) after radical resection. Methods The data of 79 patients who underwent radical resection for HBV-related ICC in the Department of Hepatobiliary Surgery of the First Affiliated Hospital of Xi'an Jiaotong University from January 2010 to December 2018 were retrospectively analyzed. Among them, 48(60.8%) patients were male and 31 (39.2%) patients were female, (56.9±11.2) years old. X-Tile statistical software was used to determine the best cut-off values of NLR and GPRI. The χ2 test was conducted to analyze the relationship between preoperative NLR and GPRI and the clinicopathological characteristics, and the Cox proportional hazard regression model was conducted for multivariate analysis. A nomogram prognostic prediction model was established based on independent risk factors0.05). A nomogram prediction model was established based on independent risk factors, with the C-index of 0.750, and the prediction effect was close to the actual survival outcome of the patients. Conclusion Preoperative peripheral blood NLR and GPRI can be used to predict the prognosis of patients with HBV-related ICC after radical resection.Objective To evaluate the feasibility and safety of Sotn ureterorenoscope combined with flexible ureteroscope on managing complex renal stones. Methods Patients treated with the Sotn ureterorenoscope combined with flexible ureteroscope between January 2010 and December 2019 were employed from the Sun Yat-sen Memorial Hospital of Sun Yat-sen University and Jiangmen Wuyi Traditional Chinese Medicine Hospital. The patients' information of age, gender, comorbidities, stone characteristics (stone size, hounsfield units, stone composition, stone location, etc.), operative time and console time, stone-free rate (SFR), and perioperative complication rate were collected. The primary outcome was defined as primary SFR in 1 month of operation, and the secondary outcome was the perioperative complication rate. The differences in preoperative and postoperative data between patients with different kinds of stones were compared. Results A total of 347 patients were included in the study, with 220 males and 127 females. The age [M(Q1,Q3)] was 51 (42, 58) years. There were 94 patients suffered from multiple renal stones and 253 patients with staghorn renal stones. The operative time and console time age [M(Q1,Q3)] for all patients were 87 (55, 115) min and 59 (27, 75) min, respectively. The primary SFR was 81.3% [83.8% for multiple renal stones and 74.5% for staghorn renal stones (P=0.048)]. Complications occurred in 80 patients (23.1%), of which 79 cases were classified as Clavien-Dindo grade 1-2, and 1 case (0.3%) was grade 3-4. For patients with multiple renal stone, compared with the residual stone group, the complete stone-free group had smaller stone size [15.5 (12.0, 21.0) vs 22.0 (17.5, 28.1) mm, P40 mm. Conclusion Sotn ureterorenoscope combined with flexible ureteroscope is an effective and safe choice for the treatment of complex renal calculi.Objective To compare the outcomes of multi-tract percutaneous nephrolithotomy (PCNL) and simultaneous combined single-tract percutaneous nephrolithotomy and flexible ureteroscopic lithotripsy (ECIRS) as treatment for staghorn stones. Methods The clinical data of patients with staghorn stones who were treated with multi-tract PCNL or single-tract ECIRS in Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2015 to December 2019 were retrospectively analyzed. Two group of patients were placed in semisupine-lithotomy position (Galdakao-modified supine Valdivia position). We punctured into the renal calyces guided by ultrasonography. A F6 double J stent and a nephrostomy tube were routinely inserted in both groups. Kidney-ureter-bladder radiography (KUB) or computed tomography (CT) were done within 24 hours and 1 month after procedure to determine stone free rate (SFR). Stone free was defined as no residual stones or residual stones of 0.05). The operating time was significantly longer in PCNL group compared with ECIRS group [130(100,171) vs 105(90,135) min, P=0.015]. The rate of Clavien-Dindo grade 2 or higher were significantly higher in the PCNL group than the ECIRS group (18.92% vs 1.64%, P less then 0.01). The PCNL group required longer hospitalization time than the ECIRS group [8 (7, 9) vs 6 (5, 8) d, P less then 0.01]. Conclusions Both multi-tract PCNL and single-tract ECIRS treating staghorn stones in semisupine-lithotomy position are safe and effective. The two procedures have comparable SFR. However, the ECIRS group has lower rates of postoperative complications, shorter operating time and hospitalization time.Objective To analyze the genotype characteristics of children with monogenic nephrolithiasis. Methods The clinical data and genetic test results of 56 children with monogenic nephrolithiasis diagnosed and treated in Beijing Friendship Hospital, Capital Medical University from January 2016 to December 2020 were analyzed retrospectively. All pediatric patients were diagnosed by whole exome sequencing, and the genotype characteristics of the children were analyzed. Erastin Results Among 56 children with monogenic nephrolithiasis, there were 39 males and 17 females, with an average age of 4 years (range, 5 months to 14 years). A total of 11 genes were found to have mutations, including 7 autosomal recessive genes, 1 X-linked recessive gene, and 3 genes with both recessive and dominant, of which HOGA1 gene mutation was the most common (16 cases, 28.6%), followed by AGXT gene (15 cases, 26.8%), SLC3A1 gene (6 cases, 10.7%), SLC7A9 gene (5 cases, 8.9%) and GRHPR gene (5 cases, 8.9%). The mutation types included nonsense mutations, frameshift mutations and splicing mutations, with 14 novel mutations. Genes such as AGXT, GRHPR and HOGA1 have hotspot mutations or hotspot mutation regions, which are c. 815-816 insGA and c. 33dupC mutation, c.864-865delTG mutation and c. 834-834+1 mutation region; SLC3A1 and SLC7A9 genes had 9 novel mutations, but no hotspot mutation or hotspot regions were found. Conclusion Monogenic nephrolithiasis is rare and mostly autosomal recessive in Chinese children, with mutations in the causative genes HOGA1, AGXT, SLC3A1,SLC7A9 and GRHPR. AGXT, GRHPR and HOGA1 genes have hotspot mutations or hotspot mutation regions, and mutations may have ethnic differences.Although minimally invasive diagnosis and treatment technology for urinary stones has been widely developed, with continuous progress and cross integration of imaging, laser technology, endoscopic technology, and materials science, new diagnosis and treatment equipment emerge in endlessly, which promotes the continuous progress and innovation in diagnosis and treatment technology for urinary stones. By introducing the advances in imaging, lithotripsy tools, new endoscopes and ureteral stents, and analyzing their application prospects, it helps us understand the development trend of diagnosis and treatment of urinary stones in the future.Monogenic nephrolithiasis is comparatively rare in clinical practice, but its yearly increasing incidence and impacts on physical and mental health are worth wide attention. At present, management of monogenic nephrolithiasis are still the medication and surgery. This article regards the research progress on primary hyperoxaluria as the breakthrough point to review the etiological therapy of monogenic nephrolithiasis. We aim to promote more studies on other monogenic nephrolithiasis, more methods and drugs for gene therapy, precise and individualized treatment of monogenic nephrolithiasis, and thus to promote the prevention and treatment of monogenic nephrolithiasis in China.
We provide a systematic literature review on tissue miRNAs in patients with RCC to evaluate and summarize their usefulness as prognostic markers. We undertook a systematic search for articles in English using the PubMed-Medline database from January 2010 to December 2020. Studies were identified and selected according to the PRISMA criteria and the PICO methodology. The population consisted of RCC patients undergoing nephrectomy and the main outcome of interest was recurrence-free survival (RFS). Only studies providing hazard ratios (HRs) from multivariate or univariate analyzes with corresponding 95% confidence intervals (CI) and/or area under the curve (AUC) were considered.
All nine included studies (1,541 patients) analyzed the relationship between tissue miRNA expression levels (up or downregulated) and RFS. link2 Some of these found that the methylation status of miR-9-1, miR-9-3 and miR-124 was associated with a high risk of relapse. Moreover, miR-200b overexpression was associated with OS. MiR-210 overexpression indicated a shorter OS than those who were miR-210 negative. Finally, patients with high miR-125b expression had shorter CSS than those with low expression; similarly, patients with low miR-126 expression also had shorter CSS time.
Several studies tested the usefulness of specific miRNAs to predict RCC recurrence. Some of them showed a fair accuracy and strong relationship between specific miRNA over or under-expression and survival outcomes. However, results from these studies are preliminary and miRNAs use in routine clinical practice is still far to come.
Several studies tested the usefulness of specific miRNAs to predict RCC recurrence. Some of them showed a fair accuracy and strong relationship between specific miRNA over or under-expression and survival outcomes. However, results from these studies are preliminary and miRNAs use in routine clinical practice is still far to come.
Identification of diagnostic error is complex and mostly relies on expert ratings, a severely limited procedure. link3 We developed a system that allows to automatically identify diagnostic labelling error from diagnoses coded according to the international classification of diseases (ICD), often available as routine health care data.
The system developed (index test) was validated against rater based classifications taken from three previous studies of diagnostic labeling error (reference standard). The system compares pairs of diagnoses through calculation of their distance within the ICD taxonomy. Calculation is based on four different algorithms. To assess the concordance between index test and reference standard, we calculated the area under the receiver operating characteristics curve (AUROC) and corresponding confidence intervals. Analysis were conducted overall and separately per algorithm and type of available dataset.
Diagnoses of 1,127 cases were analyzed. Raters previously classified 24.58% of caslecting a prevalent definition of a diagnostic labeling error.
To report an atypical presentation of a pathogenic
gene variant in siblings not fulfilling the clinical diagnostic criteria for Peutz-Jeghers Syndrome (PJS)
Two siblings presented with prepubertal gynaecomastia and bilateral macro-orchidism, without mucocutaneous pigmentation or gastrointestinal symptoms. There was no family history of PJS. Sibling 1 had unilateral gynaecomastia. Sibling 2 had bilateral gynaecomastia, advanced bone age and bilateral testicular microlithiasis, not indicative of a large-cell calcifying Sertoli cell tumour. Genetics revealed a paternally inherited heterozygous pathogenic
variant (910C>T) in both siblings. The diagnosis was confirmed following the identification of multiple intestinal polyps in their father.
Prepubertal gynaecomastia and prepubertal macro-orchidism (testicular enlargement without virilisation), always warrant endocrinological investigation, with PJS being an important differential diagnosis. Children may not fulfil the clinical criteria for a diagnosis of PJS at presentation.