Pancreatic Neuroendocrine Neoplasms: CT Spectral Imaging in Grading.

RATIONALE AND OBJECTIVES: The purpose of this study was to define the CT spectral imaging characteristics of pancreatic neuroendocrine neoplasms (PNENs) and evaluate their potential for differential diagnosis of nonlow grade (non-LG) PNENs from low grade (LG) PNENs. MATERIALS AND METHODS: CT spectral imaging data of 54 pathologically proven PNENs were retrospectively reviewed. Patients were divided into two groups: 40 cases with grade 1 in LG PNENs group and 14 cases with grade 2 and grade 3 in non-LG PNENs group. RESULTS: Gender, calcification, inhomogeneity, invasiveness, PD dilatation, lymph node enlargement, size, normalized iodine (water) concentration in arterial phase (AP) (Iodine (ap)), normalized effective-Z (Zap), slope of normalized CT spectral curves in both AP, and portal venous phase were found to be significant variables for differentiating non-LG PNENs from LG PNENs (p < 0.05). Non-LG PNENs had larger size and lower Zap and Iodine (ap) than LG PNENs. The tumor size, Zap and Iodine (ap) had fair to good diagnostic performance with the area under receiver-operating-characteristic curve (AUC) 0.843, 0.733, and 0.728, respectively. Multivariate analysis with logistic regression had higher AUC (p<0.05) than all the single parameters except for size. CONCLUSION: There were significant differences in CT spectral imaging parameters between non-LG and LG PNENs. Tumor size was the most promising independent parameter and the combination of quantitative parameters with qualitative parameters is the best predictor in differentiating of non-LG PNENs from LG PNENs. CT spectral imaging can help determine the malignancy of PNENs, which can better assist in surgical planning.

Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.

BACKGROUND: Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next-generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for population genetic studies of HL. Here, we analyzed clinical and molecular data from 21 Chinese deaf families who did not have hotspot mutations in the common deafness genes GJB2, SLC26A4, GJB3, and MT-RNR1. METHOD: Targeted next-generation sequencing (TGS) of 127 known deafness genes was performed in probands of 12 families, while whole-exome sequencing (WES) or trio-WES was used for the remaining nine families. RESULTS: Potential pathogenic mutations in a total of 12 deafness genes were identified in 13 probands; the mutations were observed in GJB2, CDH23, EDNRB, MYO15A, OTOA, OTOF, TBC1D24, SALL1, TMC1, TWNK, USH1C, and USH1G, with eight of the identified mutations being novel. Further, a copy number variant (CNV) was detected in one proband with heterozygous deletion of chromosome 4p16.3-4p15.32. Thus, the total diagnostic rate using NGS in our deafness patients reached 66.67% (14/21). CONCLUSIONS: These results expand the mutation spectrum of deafness-causing genes and provide support for the use of NGS detection technologies for routine molecular diagnosis in Chinese deaf populations.

Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.

OBJECTIVES: The frequency and spectrum of mutations in deafness-causing genes differs significantly according to the ethnic population and region under investigation. The molecular etiology of nonsyndromic hearing loss (NSHL) in Wenzhou, China, has not yet been systematically elucidated. To provide accurate genetic testing and counseling in this area, we investigated the molecular etiology of NSHL in a deaf population from Wenzhou. METHODS: A total 506 unrelated patients with NSHL were enrolled in this study. Nine hotspot mutations in four major deafness genes were investigated by sequencing (Group I: 187 patients enrolled between 2011 and 2015) or allele-specific PCR-based universal array (Group II: 319 patients enrolled between 2016 and 2017). The investigated genes included GJB2 (c.35delG, c.176_191del16, c.235delC, c.299-300delAT), SLC26A4 (c.2168A > G, c.919-2A > G), mtDNA 12SrRNA (m.1555A > G, m.1494C > T), and GJB3 (c.538C > T). Furthermore, whole coding region sequencing or improved multiplex ligation detection reaction (IMLDR) were performed for patients who carried mono-allelic variants of GJB2 and SLC26A4, in order to detect other mutations among these patients. RESULTS: GJB2 mutations were detected in 22.92% (116/506) of the entire cohort and SLC26A4 mutations were found in 6.52% (33/506) of the cohort. GJB3 mutations were detected in 0.79% (4/506) of the cohort. The mutation rate of mitochondrial DNA 12SrRNA in our patients was 17.40% (88/506), including 17.00% (86/506) with the m.1555A > G mutation and 0.40% (2/506) with the m.1494C > T mutation. The allelic frequency of the c.235delC mutation was 14.62% (148/1012), which is significantly higher than that of c.109G > A (33/1012, 3.26%), c.299_300delAT (13/1012, 1.28%), and c.176_191del16 (6/1012, 0.59%). The most common pathogenic mutation of SLC26A4 was the c.919-2A > G mutation (37/1012, 3.66%), followed by c.2168A > G (6/1012, 0.59%), and c.1229C > T (4/1012, 0.40%). Moreover, five rare pathogenic variants of GJB2 and eight rare pathogenic variants of SLC26A4 were identified. CONCLUSION: GJB2 is the primary deafness-causing gene in deaf patients from Wenzhou, China; this is consistent with what is observed in most Chinese populations. However, the surprisingly high rate of the m.1555A > G mutation (17.00%) in patients from Wenzhou was significantly higher than in other populations in China. These findings highlight the specificity of the common deafness-causing gene mutation spectrum in the Wenzhou area. This information may be of benefit for genetic counseling and risk assessment for deaf patients from this area.

[Preparation of Gold Nano-Particles as Surface-Enhanced Raman Scattering Sensors for Analysis of Banned Food Dye Chrysoidin in Yuba].

Chrysoidin is a kind of banned food dye, and it has been illegally used for coloring food. A rapid detection and quantification method is developed and applied in analysis chrysoidin in yuba. Gold nanoparticles are synthesized by using hexadecyl trimethyl ammonium bromide (CTAB) as the bifunctional ligand to link the solid substrate and the AuNPs. The laser wavelength used for quantitative is 1594 cm⁻¹. Significant differences between different concentrations of chrysoidin are verified by multiple variable analysis. A relationship between the logarithm of the concentrations and the intensity of laser is proved using univariate analysis method. The calibration curves showed good linearity in the range of 0.001-0.5 mmol · L⁻¹ with correlation coefficients r = 0.995. The method is successfully applied to the determination of chrysoidin in yuba. The average recoveries of the drugs spiked at 50 and 500 µg · g⁻¹ levels are 82.4% and 116.9%, and the relative standard deviations (RSD) are 3.8% and 4.0%. The method is simple, rapid, sensitive and accurate in the determination of chrysoidin.

Chest X-ray and CT findings of early H7N9 avian influenza cases.

BACKGROUND: The H7N9 strain of bird flu is a new type of avian flu that was identified at the end of March 2013. The disease is concerning because most patients have become severely ill. PURPOSE: To study the X-ray and computed tomography (CT) findings of early H7N9 avian influenza cases. MATERIAL AND METHODS: Chest radiography and CT were performed in six patients with H7N9 avian influenza within 1-20 days after onset. The CT examinations included conventional spiral CT and high-resolution CT. The findings on the radiography and CT images were analyzed. RESULTS: Abnormal X-ray and CT findings were present in all of the patients. All of the cases had acute onset. In the early stage, the right lung was more commonly affected (particularly in the right upper and middle lobes). The lesions rapidly expanded to the entire lungs and were characterized primarily by ground-glass opacities (GGOs) combined with consolidation. Diffuse GGO was observed in all six cases (1 was symmetric, and 5 were non-symmetric). Local consolidation was found in four cases, and lobar consolidation was found in two cases. Normal lung tissue was observed between the lesions. Pleural thickening was common and was combined with pleural/pericardial effusion or mediastinal lymph node enlargement. Reticular changes, centrilobular nodules, and the tree-in-bud sign were observed in some cases, but reticular changes, bronchial wall thickening, and hyperinflation were not found. CONCLUSION: Radiological changes associated with both acute pneumonia and acute interstitial inflammation were observed in early H7N9 avian influenza cases. Serial chest X-rays were useful for the diagnosis and severity assessment of the disease. CT may provide a more accurate assessment of the lung pathology.

Preoperative serum visfatin levels and prognosis of breast cancer among Chinese women.

Visfatin is identified a pro-inflammatory cytokine and its serum level is increased in various cancers. This study aimed to evaluate the prognostic value of preoperative serum visfatin level in breast cancers. Preoperative serum visfatin levels of 248 patients with breast cancer and serum visfatin levels of 100 healthy individuals and 100 benign women controls were determined using enzyme-linked immunosorbent assay. Unfavorable outcome was defined as first local recurrence, distant metastasis, second primary cancer of another organ, or death from any cause. Disease-free survival was defined as the time between surgery and the date of unfavorable outcome whichever appeared first. Overall survival was defined from surgery to death for any cause. The association of serum visfatin level with outcomes including mortality, unfavorable outcome, disease-free survival and overall survival was investigated by univariate and multivariate analyses. Preoperative serum visfatin level was substantially higher in patients than in healthy subjects and benign controls respectively. Elevated preoperative serum level of visfatin was identified an independent predictor of mortality, unfavorable outcome, disease-free survival and overall survival. Receiver operating characteristic curve analysis showed that serum level visfatin had high predictive value for mortality and unfavorable outcome. Thus, our results suggest that high preoperative serum visfatin level is associated with poor patient outcomes as well as may play a role as prognostic biomarker in breast cancer survival.

[Prenatal diagnosis and clinical counseling for fetal chromosomal reciprocal translocations].

OBJECTIVE: To analyze the clinical effect of fetal chromosomal reciprocal translocation in order to optimize procedures for prenatal diagnosis and clinical counseling. METHODS: Conventional G-banding karyotype analysis was performed on 7901 amniotic fluid samples. For fetuses found to have carried a reciprocal translocation, karyotypes of their parents were checked. Fetuses with de novo translocations also underwent microarray analysis to exclude small deletions, and were subjected to prenatal ultrasound monitoring till birth and one year follow-up. Those with de novo translocations were followed till 3 years old. RESULTS: A total of 24 fetal reciprocal translocations have been identified, which gave a detection rate of 0.30%. Analysis of parental karyotypes has found reciprocal translocations in 17 cases, including 9 maternal and 8 paternal cases. The remaining 4 were of de novo mutations, for which parental examination was refused in three cases. For fetuses with inherited translocations, prenatal ultrasound monitoring and follow-up results were all normal. For those with de novo translocations, although gene chip analysis has failed to detect copy number variations (CNVs), prenatal ultrasound and follow-up results had found three with abnormal outcome. These included 1 case with reciprocal translocation involving the X chromosome and an autosome. CONCLUSION: For prenatally detected reciprocal chromosome translocations, parental origin should be traced. Gene chip analysis can help to exclude small deletions and duplications. However, ultrasound monitoring and follow-up after birth are equally important. Based on comprehensive analysis of the results of combined testing, accurate counseling can be provided.

[Study on the simultaneous determintion of various components in cement samples by inductive coupled plasma-atomic emission spectrometry].

A simple and rapid method for determination of CaO, MgO, Fe2O3, Al2O3 and TiO2 in cement samples by inductive coupled plasma-atomic emission spectrometry (ICP-AES) was developed. In order to carry out the analysis, the cement samples were dissolved with mixed aqua regia, hydrofluoric acid, perchloric acid, hydrochloric acid, and the standard solution was prepared by a series of standard cement samples. The matrix interference and the mutual interference of elements under test were studied by ICP-AES. The detection limits are in the range of 3.79 x 10(-4)-1.07 x 10(-2) microg x mL(-1). The recovery rates and relative standard deviations (RSD) of the method are in the range of 87.5%-105.6% and less than 1% respectively. Research results show that the method can meet the requirements of rapid chemical analysis for cement.

[SNP-chip technology for identification of origins for prenatally detected marker chromosomes].

OBJECTIVE: To determine the origin of 1 prenatally detected small supernumerary marker chromosome (sSMC) using SNP-chip technology, and to deduce the underlying mechanism. METHODS: The fetal sample was subjected to karyotype analysis. The identified sSMC was subjected to genom wide scan using a SNP microarray chip. The results were validated with fluorescence in situ hybridization (FISH). RESULTS: The karyotype of the fetus was determined as 46, X, +mar, which was verified by SNP microarray chip analysis as Yp11.2-11.3 duplication, along with loss of Yq11.2 region, FISH analysis has confirmed that the sSMC has derived from the Y chromosome. CONCLUSION: The karyotype of the fetus was determined as 46, X, idic(Y) (pter→ p11.2::11.2→ pter). Regional deletion of Yq11.2 has been associated with male azoospermia. SNP chip analysis can exclude minor deletions and duplications with a size of more than 1 Mb, which may be applied for verifying difficult cases as well as microdeletion and duplication syndromes upon prenatal diagnosis.

Separation and detection of isoquinoline alkaloids using MEEKC coupled with field-amplified sample injection induced by ACN.

New methods based on MEEKC coupling with field-amplified sample injection (FASI) induced by ACN were proposed for five isoquinoline alkaloids (berberine, palmatine, jatrorrhizine, sinomenine and homoharringtonine) in no salt and high salt sample solution (HS). For the separation of five isoquinoline alkaloids, a running buffer composed of 18 mM sodium cholate, 2.4% v/v butan-1-ol, 0.6% v/v ethyl acetate, 10% v/v (or 30% v/v) methanol and 87.0% v/v (or 67% v/v) 5 mM Na2B4O7~10 mM NaH2PO4 buffer (pH 7.5) was developed. In order to improve the sensitivity, FASI induced by ACN was applied to increase the detection sensitivity. The detection limit was found to be as low as 0.0002 microg/mL in no salt sample solution and 0.062 microg/mL in HS. The method has been applied for the analysis of human urine spiked with analytes, and the assay results were proved to be satisfactory, and also the determination of berberine in urine sample after oral administration berberine.

Kinetic studies for the biosorption of lead and copper ions by Penicillium simplicissimum immobilized within loofa sponge.

Biosorption potential of Penicillium simplicissimum (Penicillium sp.) immobilized within loofa sponge (PSILS) for lead and copper from aqueous media was explored. The effects of pH, contact time and initial concentration were studied in batch experiments. The maximum uptake of metal ions was obtained at pH 5.0. Biosorption equilibrium was established by 60 min. The pseudo-first-order, pseudo-second-order and intraparticle diffusion kinetic models were applied to study the kinetics of the biosorption processes. The pseudo-second-order kinetic model provided the best correlation (R(2)>0.999) of the experimental data compared to the pseudo-first-order and intraparticle diffusion kinetic models. The maximum heavy metal ions adsorbed was found to be 152.6 and 112.3mg/g for Pb(II) and Cu(II), respectively. It was found that the biosorption of both Pb(II) and Cu(II) on PSILS was correlated well (R(Pb)(2)=0.999 and R(Cu)(2)=0.9978) with the Langmuir equation as compared to Freundlich isotherm equation under the concentration range studied. PSILS was regenerated by washing with a 100mM solution of HCl. The desorption efficiency was as high as 98%. The PSILS was reused in five adsorption-desorption cycles with negligible decrease in biosorption capacity. The present work showed that PSILS was an efficient biosorbent for removal of heavy metal ions from aqueous solution.

[Study on excess sludge solubilization in S-TE process under microaeration].

The effect of S-TE (solubilization by thermophilic enzyme) pretreatment on excess sludge solubilization and changes of chemical components under microaeration and different temperatures was investigated. The results showed that, two reaction mechanisms of enzyme-catalyzed reaction and thermal-hydrolyzed reaction were involved in the S-TE process, which began with depolymerization of sludge flocs by exoenzymes including proteases and amylases, followed by cell-walls and organic matters disintegration and hydrolyzation. The solubiozation process with thermophilic bacteria Bacillus stearothermophilus sp. AT06-1 addition was enhanced compared with the control (the process without the bacteria). Under the optimum temperature (65 degrees C), the solubilization rate of total suspended solid (TSS) and volatile suspended solid (VSS) reached 34.09% and 24.16% within 2 days respectively, 7.57% and 6.87% higher than the control. The results also revealed that under microaeration operation, the maximal soluble chemical oxygen demand (SCOD) of 4,531 mg/L and volatile fatty acid (VFA) of 2,319 mg/L were obtained, which would be beneficial to the followed anaerobic digestion process. At the same time the activity of protease was dramatically promoted. The protein released from the sludge was hydrolyzed, resulting in an increase of protein concentration at the early stage of the experiment and then a decrease at the later period.

Separation and determination of flavonoids using microemulsion EKC with electrochemical detection.

A selective and sensitive method of microemulsion EKC (MEEKC) with electrochemical detection (ED) was developed for separation and determination of 14 flavonoids. In order to obtain the better stability for the studied flavonoids, oil (ethyl acetate) with low interfacial surface tension was employed as organic solvent. A running buffer composed of 0.9% (w/v, 30 mM) SDS, 0.9% (w/v, 21 mM) sodium cholate (SC), 0.9% (w/v, 121 mM) butan-1-ol, 0.6% (w/v, 68 mM) ethyl acetate, and 98.2% v/v 10 mM Na(2)B(4)O(7)-20 mM H(3)BO(3) buffer (pH 7.5) was applied for the separation of flavonoids. Under the optimum conditions, the relationship between peak currents and analyte concentrations was linear over about 1.3 and 1.7 orders of magnitude with detection limits (defined as S/N = 3) ranging from 0.02 to 0.5 microg/mL for all analytes. This method was applied for the determination of flavonoids in real samples with simple extraction procedures, and the assay results were satisfactory.

Association of interleukin-1 gene polymorphisms with gastric cancer: a meta-analysis.

Previous studies on the association between interleukin-1 (IL-1) genetic polymorphisms and the risk of gastric cancer have produced conflicting results. The purpose of this study was to examine the association between IL-1 genotype and gastric cancer by systematically reviewing the risk of the original studies. Thirty-nine studies, which included 6,863 gastric cancer cases and 8,434 controls, met the inclusion criteria and were included in the meta-analysis. By pooling all the studies identified, the summary odds ratio (OR) of gastric cancer risk associated with IL-1B-511T, -31C, +3954T and IL-1RN*2 was 1.26 (95% confidence interval (CI): 1.03-1.55), 1.00 (95% CI: 0.82-1.22), 1.37 (95% CI: 0.94-2.00) and 1.20 (95% CI: 1.01-1.41), respectively. A stratified analysis showed that IL-1B-511T was associated with an increased risk of gastric cancer (intestinal type) (OR = 1.76, 95% CI: 1.12-2.57). Moreover, IL-1RN*2 was also associated with an increased risk of gastric cancer among Caucasians (OR = 1.30, 95% CI: 1.09-1.54). In conclusion, IL-1B-511 and IL-1RN genetic polymorphisms are associated with an increased risk of developing gastric cancer.