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Background: Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the clinical spectrum varieties may heavily depend on the extent of the genomic deletion. The aim of this study is to identify the detailed breakpoints location and the deleted genes result from the r18. Case presentation: Here we describe a detailed diagnosis of a seven-year-old Chinese girl with a ring chromosome 18 mutation by a high-throughput whole-genome low-coverage sequencing approach without karyotyping and other cytogenetic analysis. This method revealed two fragment heterozygous deletions of 18p and 18q, and further localized the detailed breakpoint sites and fusion, as well as the deleted genes. Conclusions: To our knowledge, this is the first report of a ring chromosome 18 patient in China analyzed by wholegenome low-coverage sequencing approach. Detailed breakpoints location and deleted genes identification help to estimate the risk of the disease in the future. The data and analysis here demonstrated the feasibility of next-generation sequencing technologies for chromosome structure variation including ring chromosome in an efficient and cost effective way. [ABSTRACT FROM AUTHOR]

Background: The peak prevalence of retroperitoneal liposarcoma (RPLS) is between the age of 40 to 70 years, usually seen in male 1.43:1. RPLS during pregnancy is extremely rare and a challenge for both the surgeon and the pregnant woman. Case presentation: A 27-year-old woman was discovered to have a giant retroperitoneal tumor incidentally during her routine obstetric examination at 16 weeks of gestation. The en bloc resection was performed with preservation of the fetus at 20 weeks of gestation and the final pathology was consistent with low-grade myxoid liposarcoma. The patient had an uneventful pregnancy course with a termed delivery. A CT scan was taken 6 months following the surgery, and no local recurrence was detected. Conclusion: With a thorough consultation and multidiscipline collaboration, en bloc resection of retroperitoneal liposarcoma with preservation of the fetus could be feasible in the late second trimester. [ABSTRACT FROM AUTHOR]

Background: The relationship between cardiac output and septic acute kidney injury (AKI) remains unclear. The purpose of this study was to assess the association between the cardiac index (CI) and the renal outcomes in patients with septic shock. Methods: A one-year prospective cohort study was performed in the surgical and medical ICU of a teaching hospital in Nanjing, China. Twenty-nine septic shock patients who required early goal-directed fluid resuscitation were consecutively included. Pulse indicator continuous cardiac output (PiCCO) device was used to measure hemodynamic parameters before and after early goal-directed therapy (EGDT). Based on CI changes after EGDT, patients were assign to the CI increased group or the CI constant group, respectively. The incidence of poor renal outcome, which was defined as AKI on admission without recovery in following three days or new onset AKI within 28 days, was recorded. We investigated whether an increased CI was associated with a better renal outcome. Results: After EGDT, there were 16 patients in the CI increased group and 13 patients in the CI constant group. The incidence of poor renal outcome was lower in CI increased group than in the CI constant group (6% vs. 62%; P = 0.003) with a relative risk of 0.10. The logistic regression showed that the CI percent change was associated with renal outcome, with an odd ratio of 0.003 (P = 0.056) after adjustment of possible confounding factors. The CI percent change would predict a good renal outcome (AU ROC 0.739, P = 0.012) with moderate accuracy (sensitivity 75% and specificity 89%) when using a 10% cut-off value from Youden index. The CI percent change was also positively correlated with creatinine clearance (CCr) after EGDT (ρ = 0.548; P = 0.002). Conclusions: The increased CI after EGDT was a protective factor for kidney in patients with septic shock. A CI increased above 10% could be potentially used to predict development and reversibility of AKI in septic shock patients. Trial registration: Clinicaltrials.gov:NCT01862588 (May 13, 2013). [ABSTRACT FROM AUTHOR]

Background To compare the clinical outcomes of external fixator (EF) and intramedullary nails (IN) in the treatment of open tibial fractures. Methods We searched seven electronic databases (PubMed, MEDLINE, EMBASE, OVID, Cochrane library, CNKI, and CBM) for trials of tibial fracture fixation published from 1980 to 2013. The indicators including postoperative infection, malunion, nonunion, soft tissue injury, delayed healing, and healing time were used for quantitative outcome assessments. Results A total of nine trials involving 532 patients (EF, n = 253; IN, n = 279) with open tibia fractures were included in this meta-analysis. The results indicated that the patients undergoing IN had lower incidence of postoperative infection (risk radio [RR] = 3.85; 95% confidence intervals [CI], 2.67-5.54; P < 0.0001), malunion (RR = 2.31; 95% CI, 1.40-3.81; P = 0.001), nonunion (RR = 1.41; 95% CI, 1.06-1.88; P = 0.02) and less healing time (weighted mean difference [WMD] = 6.19; 95% CI, 1.42-10.96; P = 0.01) compared with EF. However, regarding to the soft tissue injury (RR = 0.74; 95% CI, 0.34-1.62; P = 0.45) and delayed healing (RR = 1.38; 95% CI, 0.79-2.43; P = 0.26), there is no significantly difference between EF and IN approach. Conclusion In conclusion, the use of IN is more effective than EF and may be considered as first-line approach in fixation of open tibial fractures. [ABSTRACT FROM AUTHOR]