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.

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.

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.

[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.

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.

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.

[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.

[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.

[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.

Determination of organophosphorus pesticides by capillary electrophoresis-inductively coupled plasma mass spectrometry with collective sample-introduction technique.

A new method for the determination of organophosphorus pesticides using CE-ICP-MS with collective sample-introduction technique has been developed in this study. The method has been successfully used to separate and determine dimethoate, trichlorfon and glyphosate with an RSD of < 5% for migration times (n = 6) and < 4% for peak areas (n = 6). The experimental results showed that the collective sample-introduction considerably reduced the makeup volume and the dilution of analyte, and eventually resulted in a much lower detection limit and a much better electrophoretic resolution.

Speciation analysis of arsenic in Mya arenaria Linnaeus and Shrimp with capillary electrophoresis-inductively coupled plasma mass spectrometry.

An improved sheath-flow interface used to couple capillary electrophoresis (CE) with inductively coupled plasma mass spectrometry (ICP-MS) and a microwave-assisted extraction used to extract each arsenic species in seafood were developed in this work. The improved sheath-flow interface completely avoids laminar flow in CE capillary caused by the suction from ICP-MS, makes electric supply more stable in CE, and transports analyte solution to ICP-MS easily and more efficiently. CE-ICP-MS coupled with our interface have two quantitative analysis modes: continuous sample-introduction mode and collective sample-introduction mode.

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.

A new interface used to couple capillary electrophoresis with an inductively coupled plasma mass spectrometry for speciation analysis.

In this work, a novel and high-efficiency interface has been developed in coupling CE with inductively coupled plasma MS (ICPMS). The interface completely avoids laminar flow in CE capillary caused by the suction of nebulizer, and can be easily and stably operated at room temperature with high analyte transport efficiency to ICPMS. The new interface has a liquid dead volume smaller than 5 nL, which was much smaller than those (65-2500 microL) reported previously for other interfaces.

[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.

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.

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.

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.