Objective: The aim of this study was to evaluate the influence of concomitant carcinoma in situ (CCIS) on tumor survival for the upper tract urinary carcinoma (UTUC) through systematic review and meta-analysis. Methods: In the light of Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines, a systematic search of Web of Science, PubMed and EMBASE China National Knowledge Infrastructure (CNKI) and Wanfang database by key words "upper urinary tract urothelial carcinoma" "renal sputum cancer" "concomitant carcinoma in situ" , and "radical ureterectomy" were performed for all reports that included detailed results on the predictors of CCIS. The search deadline is June 2019, and the search terms are English and Chinese. Methodological quality evaluation was performed using the QUIPS tool, and statistical analysis of the relevant data was performed using Stata 12.0 and RevMan 5.3 software. Results: Sixteen articles were included in this study and all published between 2012 and 2019. A total of 11 131 patients with UTUC, including 1 774 (15.9%) patients with CCIS. According to our final results, there was a significant correlation of CCIS with worse cancer-specific survival (CSS) (HR=1.10, 95%CI 1.05-1.16, P<0.001), recurrence-free survival (RFS) (HR=1.15, 95%CI 1.09-1.21, P<0.001) and overall survival (OS) (HR=1.10, 95%CI 1.03-1.17, P=0.003). Begg′s bias analysis showed no significant publication bias in CSS (P=0.822), RFS (P=0.348), and OS (P=0.452). Conclusions This study demonstrated that CCIS was associated with poor oncological outcome and could serve as a independent prognostic factor for patient with UTUC after radical nephroureterectomy.

Objective To systematically evaluate the expression of microvascular invasion (MVI) in predicting the clinical prognosis of patients with non-metastatic renal cell cancer (nmRCC) after surgical operation.Methods The relevant search strategy,including and excluding criteria for the relevant literature were developed by two independent researchers.Pubmed,EMBASE,China National Knowledge Infrastructure (CNKI),and Wanfang databases were searched from the inception to May 2018 for the study of tumor prognosis in the patients of nmRCC with MVI following surgical resection.The search language was English and Chinese.The methodological quality of the included studies was assessed by the NOS.Stata 12.0 software and Review Manager 5.3 were used to perform a clinical meta-analysis of relevant literature data.Results A total of 25 related clinical studies were included,published from 2004 to 2018.There were 6 741 patients with nmRCC,of which 1 768 cases of MVI,with a proportion rate of 26.2％.The results showed that the patients with MVI in pathological sections had a lower cancer-specific survival rate (CSS) [HR =1.51,95％ CI(1.41-1.62),P ＜0.001],recurrence-free survival rate(RFS) [HR =1.47,95％ CI (1.26-1.71),P＜0.001] and overall survival rate(OS) [HR=1.37,95％C1(1.19-1.57),P＜ 0.001].Egger's publication bias analysis showed no significant publication bias in terms of CSS (t =1.43,P=0.176),RFS (t =1.21,P=0.253) and OS(t =0.37,P=0.725).Conclusions MVI had a significant poor outcome in patients with surgical resection of nmRCC.It can be used as an independent risk factor to evaluate the postoperative prognosis of those patients.

OBJECTIVE: To summarize the clinical, biochemical and molecular characteristics of 8 patients with beta-ketothiolase deficiency (BKD). METHODS: Clinical characteristics, biochemical markers detected by tandem mass spectrometry (MS-MS) and gas chromatography-mass spectrometry (GC-MS), and variations of ACAT1 gene of the 8 patients were reviewed. RESULTS: Three patients were diagnosed by newborn screening and were asymptomatic. Five patients showed dyspnea and metabolic acidosis through high risk screening. Blood methylcrotonyl carnitine (C5:1) were 0.43 (0.20-0.89) μmol/L and 3-hydroxyisovaleryl carnitine(C5-OH) were 1.37 (0.98-3.40) μmol/L. Both were significantly higher than those of healthy controls (P<0.01). Urinary 2-methyl-3-hydroxybutyric acid was 56.04 (7.69-182.20) and methylcrotonyl glycine was 42.83 (9.20-127.01), both were higher than normal levels. In 5 patients urinary 2-methyl-3-hydroxybutyric acid level was remarkably decreased (P<0.05) after treatment. Analysis of ACAT1 gene mutation was performed in six families. Missense variations were detected in 78.6% of the cases. 42.8% of the 7 BKD patients have carried c.1124A>G (p.N375S) variant, which accounted for 28.6% of all 14 mutant alleles. Four novel variants, namely c.229delG (p.E77KfsTer10), c.373G>T (p.V125F), c.419T>G (p.L140R) and c.72+1G>A, were discovered. Pathogenicity assessment of two highly conservative missense variants (p.V125F) and (p.L140R) were 0.994 and 1.0 (Scores obtained from PolyPhen2), and PROVEAN scores were -4.652 and -5.399, respectively. c.72+1g>a was suspected (by Human Splicing Finder) to alter the wild type donor motif and most probably affect the splicing. CONCLUSION Clinicians should consider MS/MS and GC/MS testing for those with unexplained neurological symptoms and metabolic acidosis in order to attain early diagnosis of BKD. Genetic testing should be used to confirm the diagnosis.
Acetyl-CoA C-Acyltransferase ; deficiency ; Amino Acid Metabolism, Inborn Errors ; Carnitine ; Humans ; Infant, Newborn ; Retrospective Studies ; Tandem Mass Spectrometry