1T-VS2@V2O3 Synergistic Nanoarchitecture-Based Lamellar Clusters as the High Conductivity Cathodes of Thermal Batteries.

Thermal batteries are solid-state, thermally activated batteries with long storage times and high reliability. FeS2 is used as a cathode material commonly, but the high internal resistance and low voltage platform limit the improvement of battery performance. Herein, the 1T-phase vanadium disulfide (VS2) is prepared via the scalable hydrothermal method and applied to thermal battery cathode materials for the first time. 1T-VS2 lamellar flower clusters have high electronic conductivity (1.583 S cm-1) at room temperature, which is 75 times higher than FeS2 (0.021 S cm-1). Mechanism analysis shows that 1T-VS2@V2O3 can be formed based on the part of 1T-VS2 being oxidized to V2O3 at the discharge temperature. Benefiting from the synergistic effect of vanadium sulfide and vanadium oxide as a cathode for thermal batteries enhanced specific capacity (292.4 mA h g-1) and mass energy density (572.5 W h kg-1) when cutoff voltage is 1 V. Additionally, the discharge results indicate that the cells utilizing 1T-VS2 cathodes provided a higher voltage platform of 2.11 V than 1.84 V for FeS2. This impressive work can offer a good strategy for boosting cathode materials for a high-performance thermal battery.

Nickel-promoted Electrocatalytic Graphitization of Biochars for Energy Storage: Mechanistic Understanding using Multi-scale Approaches.

Owing to high-efficiency and scalable advantages of electrolysis in molten salts, electrochemical conversion of carbonaceous resources into graphitic products is a sustainable route for achieving high value-added carbon. To understand the complicated kinetics of converting amorphous carbon (e.g. carbonized lignin-biochar) into highly graphitic carbon, herein this study reports the key processing parameters (addition of Ni, temperature and time) and multi-scale approach of nickel-boosted electrochemical graphitization-catalysis processes in molten calcium chloride. Upon both experiments and modellings, multi-scale analysis that ranges from nanoscale atomic reaction to macroscale cell reveal the multi-field evolution in the electrolysis cell, mechanism of electrochemical reaction kinetics as well as pathway of nickel-boosted graphitization and tubulization. The results of as-achieved controllable processing regions and multi-scale approaches provide a rational strategy of manipulating electrochemical graphitization processes and utilizing the converted biomass resources for high value-added use.

Telomerase-initiated three-dimensional DNAzyme motor for monitoring of telomerase activity in living cells.

Telomerase (TE) is recognized as a potential biomarker for early diagnosis, monitoring and treatment of cancer. At present, most of the methods for TE detection are only applicable to in vitro assays, and unsuitable for in vivo applications. Though a few intracellular probes have been reported to have good specificity for TE, they do not involve signal amplification, which hinders their applicability in scenarios requiring high sensitivity. It is rather challenging to develop highly sensitive biosensors for intracellular TE detection due to the difficulty in design TE probes with both high specificity and compatibility with signal amplification in living cells. Herein, a highly sensitive and selective three-dimensional DNAzyme motor for monitoring of TE activity in living cells was developed by innovatively integrating TE-mediated chain replacement reaction with a three-dimensional DNA walker. Specifically, the DNAzyme motor was constructed by assembling both DNAzyme substrates and swing arms made up of a hairpin-structured DNAzyme and a telomeric primer onto gold nanoparticles. TE in cells can activate the DNAzyme motor to carry out continuous chain replacement and substrate cutting reactions, and hence realize signal amplification in living cells. The DNAzyme motor was successfully utilized to monitor the dynamic changes of TE activity in four types of cells. Due to the advantages of simple synthesis, good biocompatibility and high sensitivity and specificity for TE, the proposed DNAzyme motor is expected to have great application potential in the early diagnosis of cancer.

The Effects of Multi-Donor Fecal Microbiota Transplantation Capsules Combined with Thalidomide on Hormone-Dependent Ulcerative Colitis.

Objective: This study aimed to assess the effects of multi-donor fecal microbiota transplantation (FMT) capsules combined with thalidomide on hormone-dependent ulcerative colitis (UC). Methods: A total of 59 patients with steroid-dependent UC treated at the Gastroenterology Department of the First Affiliated Hospital of Xinxiang Medical University between January 2017 and January 2019 were enrolled in this study. Using a random number table, the patients were divided into two groups: a group treated with FMT capsules (the FMT group) and a group treated with FMT capsules and thalidomide (the FMT+S group). Multi-donor FMT capsules were prepared, and all subjects and stool donors followed the FMT pathway for FMT transplantation. Each patient's Mayo score, C-reactive protein (CRP) level, and level of fecal calprotectin before FMT treatment and at week 1 and week 13 after treatment were recorded. All patients were followed up for 15 weeks. Results: A total of 56.7% of the patients (34/59) achieved a therapeutic response at the end of the research period. Compared with the FMT group, the FMT+S group had better clinical benefit (P < 0.05). In the comparison of efficacy at week 1 and week 13 after treatment, the Mayo scores, calprotectin levels, and CRP indexes in the FMT+S group were better than those in the FMT group (P < 0.05). There were no serious adverse events in the treatment process or during follow-up. Conclusion: A combination of FMT capsules and thalidomide provides a treatment choice for patients with hormone-dependent UC, and it can be used as an adjuvant therapy. However, large-scale, multi-center, and prospective trials are required to further verify the reliability of this treatment.

Ultrasensitive detection of multiple cancer biomarkers by a triple cascade amplification strategy in combination with single particle inductively coupled plasma mass spectrometry.

A versatile triple cascade amplification strategy was developed for ultrasensitive simultaneous detection of multiple cancer biomarkers using single particle inductively coupled plasma mass spectrometry (spICP-MS). The triple cascade amplification strategy consisted of an enhanced RecJf exonuclease-assisted target recycling amplification module, a hybridization chain reaction amplification module, and a signal amplification module based on DNA-templated multiple metal nanoclusters. In the enhanced RecJf exonuclease-assisted target recycling amplification module, the DNA bases at the 5' ends of aptamers for specific recognition of biomarkers were deliberately replaced by the corresponding RNA bases to enhance amplification efficiency. The signal amplification module based on DNA-templated multiple metal nanoclusters was innovatively used to amplify the signals measured by spICP-MS and at the same time effectively suppress possible background interferences. The proposed spICP-MS platform achieved satisfactory quantitative results for both carcinoembryonic antigen (CEA) and a-fetoprotein (AFP) in human serum samples with accuracy comparable to that of the commercial ELISA kits. Moreover, it has wide dynamic ranges for both CEA (0.01-100 ng/mL) and AFP (0.01-200 ng/mL). The limit of detection for CEA and AFP was 0.6 and 0.5 pg/mL, respectively. Compared with conventional biomarkers detection methods, the proposed spICP-MS platform has the advantages of operational simplicity, ultra-high sensitivity, wide dynamic range, and low background. Therefore, it is reasonable to expect that the proposed spICP-MS platform can be further developed to be a promising alternative tool for biomarker detection in fields of clinical diagnosis and biomedical research.

A retrospective analysis of serous effusions based on the newly proposed international system for reporting serous fluid cytopathology: a report of 3633 cases in an oncological center.

BACKGROUND: The International System for Reporting Serous Fluid Cytopathology (TIS) was recently proposed. We retrospectively applied TIS recommendations for reporting the cytological diagnosis of serous effusions and reported our experience. METHODS: All the serous effusions from January 2018 to September 2021 were retrieved from the database. Recategorization was performed using the TIS classification, the risk of malignancy (ROM) was calculated for each TIS category. In addition, on the basis of the original TIS classification, we further subdivided the TIS category IV (suspicious for malignancy, SFM) into 2 groups (IVa and IVb) according to cytological characteristics (quality and quantity) to explore the necessity of SFM subclassification. The performance evaluation was carried out using different samples (pleural, peritoneal and pericardial effusions) and preparation methods (conventional smears, liquid-based preparations and cell blocks). RESULTS: A total of 3633 cases were studied: 17 (0.5%) were diagnosed as 'nondiagnostic' (I, ND), 1100 (30.3%) as 'negative for malignancy' (II, NFM), 101 (2.8%) as 'atypia of undetermined significance' (III, AUS), 677 (18.6%) as 'suspicious for malignancy' (IV, SFM), and 1738 (47.8%) as 'malignant' (V, MAL). The ROMs for the categories were 38.5%, 28.6%, 52.1%, 99.4% and 100%, respectively. The ROM for SFM was significantly higher than that for AUS (P < 0.001), while the difference between the ROMs for IVa and IVb was insignificant. The sensitivity, negative predictive value (NPV) and diagnostic accuracy of liquid-based preparations were all superior to those of conventional smears and cell blocks in detecting abnormalities. Using the three preparation methods simultaneously had the highest sensitivity, NPV and diagnostic accuracy. CONCLUSION: Serous effusion cytology has a high specificity and positive predictive value (PPV), and TIS is a user-friendly reporting system. Liquid-based preparations could improve the sensitivity of diagnosis, and it is best to use three different preparation methods simultaneously for serous effusion cytologic examination.

Highly Sensitive and Specific Mass Spectrometric Platform for miRNA Detection Based on the Multiple-Metal-Nanoparticle Tagging Strategy.

The multiple-metal-nanoparticle tagging strategy has generally been applied to the multiplexed detection of multiple analytes of interest such as microRNAs (miRNAs). Herein, it was used for the first time to improve both the specificity and sensitivity of a novel mass spectroscopic platform for miRNA detection. The mass spectroscopic platform was developed through the integration of the ligation reaction, hybridization chain reaction amplification, multiple-metal-nanoparticle tagging, and inductively coupled plasma mass spectrometry. The high specificity resulted from the adoption of the ligation reaction is further enhanced by the multiple-metal-nanoparticle tagging strategy. The combination of hybridization chain reaction amplification and metal nanoparticle tagging endows the proposed platform with the feature of high sensitivity. The proposed mass spectrometric platform achieved quite satisfactory quantitative results for Let-7a in real-world cell line samples with accuracy comparable to that of the real-time quantitative reverse-transcriptase polymerase chain reaction method. Its limit of detection and limit of quantification for Let-7a were experimentally determined to be about 0.5 and 10 fM, respectively. Furthermore, due to the unique way of utilizing the multiple-metal-nanoparticle tagging strategy, the proposed platform can unambiguously discriminate between the target miRNA and nontarget ones with single-nucleotide polymorphisms based on their response patterns defined by the relative mass spectral intensities among the multiple tagged metal elements and can also provide location information of the mismatched bases. Its unique advantages over conventional miRNA detection methods make the proposed platform a promising and alternative tool in the fields of clinical diagnosis and biomedical research.

Ultrasensitive detection of protein biomarkers by MALDI-TOF mass spectrometry based on ZnFe2O4 nanoparticles and mass tagging signal amplification.

A facile MALDI-TOF mass spectrometric platform for quantitative analysis of protein biomarkers was developed based on magnetic ZnFe2O4 nanoparticles and mass tagging signal amplification. In this platform, magnetic ZnFe2O4 nanoparticles functionalized with an aptamer of the biomarker of interest was used to magnetically separate silica nanoparticles modified with another aptamer of the target biomarker and a barcoding peptide from solution phase in the presence of the biomarker of interest. After the silica nanoparticles were dissolved by KHF2, the released barcoding peptide was detected by MALDI-TOF mass spectrometry with magnetic ZnFe2O4 nanoparticles used as assisting matrix of laser desorption ionization. Since the mass spectral intensity of the barcoding peptide is directly related to the concentration of the target biomarker, the proposed platform can be applied to the quantification of the target biomarker in complex biological samples. The effectiveness of the proposed platform was tested on the detection of carcinoembryonic antigen (CEA) in serum. Experimental results revealed that the proposed platform could achieve quite reliable quantitative results for CEA in human serum samples with accuracy comparable to a commercial CEA ELISA Kit. Its limit of detection and limit of quantification for CEA were estimated to be 0.6 × 10-3 and 1.8 × 10-3 ng/mL, respectively, considerably lower than the corresponding values reported in literature. Due to its features of simplicity in design, extremely low background signal, high sensitivity and selectivity, the proposed method can be further developed to be a competitive alternative for the quantification of CEA and other protein biomarkers as well.

Calculation on surface energy and electronic properties of CoS2.

Density functional theory was employed to investigate the (111), (200), (210), (211) and (220) surfaces of CoS2. The surface energies were calculated with a sulfur environment using first-principle-based thermodynamics. It is founded that surfaces with metal atoms at their outermost layer have higher energy. The stoichiometric (220) surface terminated by two layer of sulfur atoms is most stable under the sulfur-rich condition, while the non-stoichiometric (211) surface terminated by a layer of Co atoms has the lower energy under the sulfur-poor environment. The electric structure results show that the front valence electrons of (200) surface are active, indicating that there may be some active sites on this face. There is an energy gap between the stoichiometric (220) and (211), which has low Fermi energy, indicating that their electronic structures are dynamically stable. Spin-polarized bands are calculated on the stoichiometric surfaces, and these two (200) and (210) surfaces are predicted to be noticeably spin-polarized. The Bravais-Friedel-Donnay-Harker (BFDH) method is adopted to predict crystal growth habit. The results show that the most important crystal planes for the CoS2 crystal growth are (111) and (200) planes, and the macroscopic morphology of CoS2 crystal may be spherical, cubic, octahedral, prismatic or plate-shaped, which have been verified by experiments.

Inhibition of PTEN Gene Expression by Small Interfering RNA on PI3K/Akt/FoxO3a Signaling Pathway in Human Nasopharyngeal Carcinoma.

The objective of this article is to study the effect of inhibiting phosphatase and tensin homolog deleted chromatosome 10 gene on phosphoinositide 3-kinase/protein kinase B (Akt)/Forkhead homeobox O3a signaling pathway in human nasopharyngeal carcinoma HK-1 cells. Nasopharyngeal carcinoma HK-1 cell lines were divided into PTEN gene interference group (siPTEN), nonspecific small interfering RNA group (siNC), empty vector group (Vector), and no transfection control group (Normal). The mRNA and protein expression levels of PTEN, PI3K, p-Akt, and FoxO3a were detected by real-time fluorescence quantitative polymerase chain reaction and Western blot. Immunofluorescence was used to detect the subcellular localization of PTEN, PI3K, p-Akt, and FoxO3a in HK-1 cells. The proliferation of HK-1 cells was detected by MTT assay, and the apoptosis of HK-1 cells was detected by flow cytometry. Compared with the siNC group, the expression levels of PTEN, FoxO3a messenger RNA, and protein in the siPTEN group were significantly decreased (P < .05), while the expression levels of PI3K, p-Akt messenger RNA, and protein were significantly increased (P < .05). The growth rate of HK-1 cells in the siPTEN group was significantly higher than the siNC group (P < .05), while the apoptosis rate was significantly lower than that of the siNC group (P < .05). Small interfering RNA can inhibit the expression of PTEN in HK-1 cells, and PTEN can participate in the development of NPC by affecting PI3K/Akt/FoxO3a signaling pathway.

Intrathyroidal thymic carcinoma exhibiting neuroendocrine differentiation: Case report with cytomorphology, immunocytochemistry, and review of the literature focusing on cytology.

Intrathyroidal thymic carcinoma is a malignant epithelial tumor of the thyroid gland with thymic epithelial differentiation; it is the malignant counterpart of ectopic thymoma of the thyroid gland and histologically resembles thymic carcinoma. Given its favorable prognostic course, preoperative cytological diagnosis is important to distinguish this neoplasm from other more aggressive thyroid neoplasms that can have similar or overlapping cytomorphological features. However, there is little information about the cytology of this disease available in the literature, even in the latest fourth edition of World Health Organization classification of tumors of endocrine organs. Here, we report a case of intrathyroidal thymic carcinoma exhibiting neuroendocrine differentiation in a 33-year-old woman and present a review of the literature.

Quantification of enantiomers by mass spectrometry based on chemical derivatization and spectral shape deformation quantitative theory.

A facile mass spectrometric kinetic method for quantitative analysis of chiral compounds was developed by integrating mass spectrometry based on chemical derivatization and the spectral shape deformation quantitative theory. Chemical derivatization was employed to introduce diastereomeric environments to the chiral compounds of interest, resulting in different abundance distribution patterns of fragment ions of the derivatization products of enantiomers in mass spectrometry. The quantitative information of the chiral compounds of interest was extracted from complex mass spectral data by an advanced calibration model derived based on the spectral shape deformation quantitative theory. The performance of the proposed method was tested on the quantitative analysis of R-propranolol in propranolol tablets. Experimental results demonstrated that it could achieve accurate and precise concentration ratio predictions for R-propranolol with an average relative predictive error (ARPE) of about 4%, considerably better than the corresponding results of the mass spectrometric method based on chemical derivatization and the univariate ratiometric model (ARPE: about 12%). The limit of detection (LOD) and limit of quantification (LOQ) of the proposed method for the concentration ratio of R-propranolol were estimated to be 1.5% and 6.0%, respectively. The proposed method is complementary to the existing methods designed for the quantification of enantiomers such as the Cooks kinetic method.

Human Umbilical Cord Mesenchymal Stem Cells Therapy for Insulin Resistance: A Novel Strategy in Clinical Implication.

There is increasing evidence reporting that as a common phenomenon in MetS relative diseases, insulin resistance (IR) is regarded as an independent etiological factor and a warning indicator of MetS occurrence. Therefore, for the special group (overweight or obesity), clinical regular monitoring of IR is an important basis for the prevention and early intervention of MetS relative diseases. This surveys reveals that human umbilical cord mesenchymal stem cells (HUC-MSCs)possess a kind of potential: it may become a possible theraphy for IR in type 2 diabetes mellitus (T2DM) and related diseases. Specific emphasis is focused on evaluating the improvement IR function of HUC-MSCs under the background of development in vitro and in vivo. Next, the action mechanisms of HUC-MSCs is discussed, and some of their advantages and disadvantages in the course of clinic application are presented. The final section highlights the application of HUC-MSCs in T2DM and relative diseases at this stage. Up to now, although many questions remain unresolved, we still consider that HUC-MSCs is one of the best therapy ameliorating IR in the future.

[Emission Characteristics and Ozone Formation Potential of VOCs from a Municipal Solid Waste Composting Plant].

In Beijing, the chemical composition and component concentrations of volatile organic compounds (VOCs) were investigated during the municipal solid waste composting process using a portable gas chromatograph coupled with a mass spectrometer. The contributions of VOCs to the ozone formation potential were computed using the maximum incremental reactivity (MIR) scale and the propylene-equivalent concentration scale. The results showed that the concentrations of waste discharge in the sorting room, the first fermentation workshop, the second fermentation workshop, the compost product workshop, and the plant boundary were 10302.1, 15484.1, 929.9, 4693.6 and 370.4 µg·m-3, respectively. The main VOCs of the municipal solid waste composting plant were ethanol, limonene, and acetone. The propylene-equivalent concentrations of waste discharge in the sorting room, the first fermentation workshop, the second fermentation workshop, the compost product workshop, and the plant boundary were 25875.7, 4087.9, 378.0, 747.7 and 296.8 µg·m-3, whereas the O3 formation potentials computed using the MIR scale were 26979.3, 21168.3, 1469.3, 6439.6 and 455.8 µg·m-3. Reducing pollution by controlling the VOCs emission of waste discharge in the sorting room and the first fermentation workshop is important and can decrease the ozone formation potential. Given the accuracy and accessibility of the method, the MIR scale is more suitable for calculating the ozone formation potential of VOCs emitted from the municipal solid waste composting plant.

Odor composition analysis and odor indicator selection during sewage sludge composting.

UNLABELLED: On the basis of total temperature increase, normal dehydration, and maturity, the odor compositions of surface and internal piles in a well-run sewage sludge compost plant were analyzed using gas chromatography-mass spectrometry with a liquid nitrogen cooling system and a portable odor detector. Approximately 80 types of substances were detected, including 2 volatile inorganic compounds, 4 sulfur organic compounds, 16 benzenes, 27 alkanes, 15 alkenes, and 19 halogenated compounds. Most pollutants were mainly produced in the mesophilic and pre-thermophilic periods. The sulfur volatile organic compounds contributed significantly to odor and should be controlled primarily. Treatment strategies should be based on the properties of sulfur organic compounds. Hydrogen sulfide, methyl mercaptan, dimethyl disulfide, dimethyl sulfide, ammonia, and carbon disulfide were selected as core indicators. Ammonia, hydrogen sulfide, carbon disulfide, dimethyl disulfide, methyl mercaptan, dimethylbenzene, phenylpropane, and isopentane were designated as concentration indicators. Benzene, m-xylene, p-xylene, dimethylbenzene, dichloromethane, toluene, chlorobenzene, trichloromethane, carbon tetrachloride, and ethylbenzene were selected as health indicators. According to the principle of odor pollution indicator selection, dimethyl disulfide was selected as an odor pollution indicator of sewage sludge composting. Monitoring dimethyl disulfide provides a highly scientific method for modeling and evaluating odor pollution from sewage sludge composting facilities. IMPLICATIONS: Composting is one of the most important methods for sewage sludge treatment and improving the low organic matter content of many agricultural soils. However, odors are inevitably produced during the composting process. Understanding the production and emission patterns of odors is important for odor control and treatment. Core indicators, concentration indicators, and health indicators provide an index system to odor evaluation. An odor pollution indicator provides theoretical support for further modelling and evaluating odor pollution from sewage sludge composting facilities.

Clinicopathological features and prognosis of Borrmann type IV gastric cancer.

PURPOSE: Borrmann type IV gastric cancer is still detected at an advanced stage and survival rates for these patients remain poor. The purpose of this study was to provide valuable prognostic and surgical information on patients with Borrmann type IV gastric cancer. METHODS: We compared the clinicopathological features of Borrmann type IV gastric cancer with those of other types of gastric cancer. Clinicopathologic features of patients with Borrmann type IV gastric cancer were evaluated as prognostic predictors by univariate and multivariate analyses. RESULTS: The results showed that Borrmann type IV gastric cancer had more advanced and unfavorable clinicopathological factors compared with other Borrman types. The 5-year overall survival rate was 16.7%, and the median survival 25 months. The 5-year overall survival rate was influenced by tumor size, depth of invasion, lymph node metastasis, and chemotherapy. Of these, independent prognostic factors were lymph node metastasis (present vs absent, risk ratio 1.855, p=0.002) and radical (R0) resection (no vs yes, risk ratio 2.035, p<0.001). A significant survival benefit for radical resection was observed, with a 5-year overall survival rate of 30.7% compared with non-radically resected cases (4.8%). CONCLUSIONS: Early detection and radical resection were essential to improve the prognosis of patients with Borrmann type IV gastric cancer.

Circulation and in vivo distribution of duck hepatitis A virus types 1 and 3 in infected ducklings.

The circulation of duck hepatitis A virus types 1 (DHAV-1) and 3 (DHAV-3) in Southeast Asia has resulted in a continuously changing epidemiological scenario. In this study, a duplex real-time PCR assay for simultaneous quantitative detection of DHAV-1 and DHAV-3 was established, and 200 liver samples from dead ducklings collected from 31 different flocks in Shandong province, China, were tested. Fifty-eight (29.0 %) samples from 13 flocks were positive for DHAV-1 single infection, 113 (56.5 %) samples from 13 other flocks were positive for DHAV-3 single infection, and 24 samples (12.0 %) from four flocks were positive for both viruses. DHAV-1 and DHAV-3 were detected with high viral loads in all of the organs tested (liver, spleen, pancreas, kidney, heart, thymus, bursa of Fabricius and brain). No significant difference in DHAV-1 and DHAV-3 viral loads was found between singly infected and coinfected samples, and there was no correlation between the viral loads of the two viruses and the age of dead ducklings. To the best of our knowledge, this is the first report about the in vivo distribution of DHAV-1 and DHAV-3 in clinically infected ducklings.

Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations of the survival of motor neuron 1 (SMN1) gene. Approximately 90-95% of SMA patients have a homozygous deletion of SMN1, and 5-10% of patients are believed to have subtle mutations. The molecular diagnosis of SMN1 subtle mutations is hampered by a highly homologous SMN2 gene. It is important to establish a rational molecular diagnostic procedure for SMN1 subtle mutations. We analyzed the SMN1 mutations in nine nonhomozygous patients by the following procedures: multiplex ligation-dependent probe amplification, genomic sequencing, T-A cloning on cDNA or genomic level, and/or real-time quantitative analysis. By the above molecular diagnostic procedure, six SMN1 subtle mutations, including c.5C>G(p.Ala2Gly), c.22_23 insA (p.Ser8LysfsX23), c.40G>T(p.Glu14X), c.43C>T(p.Gln15X), c.683T>A(p.Leu228X), and c.56delT(p.Val19GlyfsX21), were identified in nine Chinese patients. p.Glu14X has not been reported previously. Compared with the level of full-length SMN1 transcripts in the healthy carriers (14.1±4.5), the patient with p.Ala2Gly had no significant reduction (13.9±3.64, p=0.955). However, the levels in the patients carrying other mutations were significantly reduced (0.27±0.139 to 13.9±3.64, p=0.000-0.004). We present a reliable and rational diagnostic procedure for SMN1 subtle mutations, which would be helpful in molecular diagnosis of SMA compound heterozygotes. Our work extends the SMN1 mutation spectrum.

Impact of molecular testing in the diagnosis of thyroid fine needle aspiration cytology: data from mainland China.

BACKGROUND: The molecular work-up of thyroid nodules from fine needle aspiration samples has given clinicians a new level of diagnostic information. The aim of the present study was to evaluate the utility of molecular analysis in thyroid fine needle aspiration samples from a Chinese population. METHODS: Specimens were collected from thyroid nodules by fine needle aspiration. Cytology diagnosis and genes analysis were performed and correlated with histology outcome. RESULTS: A total of 83 patients with thyroid nodules were enrolled, including 20 benign lesions and 63 papillary carcinomas. BRAF and RAS mutations and RET/PTC gene rearrangements were found in 65.1%, 0%, and 1.6% of papillary carcinomas, respectively. No gene alterations were found in benign lesions. The combination of BRAF testing and cytology improved the accuracy of cytology from 69.9% to 89.2% (P < 0.05). Moreover, BRAF testing confirmed 82.4% of papillary carcinomas with suspicious cytology and identified 33.3% of papillary carcinomas with atypia cytology. CONCLUSIONS: Of the three candidate markers, BRAF testing showed diagnostic utility in fine needle aspiration. Combining BRAF testing with cytology improves the accuracy of fine needle biopsy. Those who have positive BRAF and malignant or suspicious malignant cytology can undergo thyroidectomy without a frozen section.

Improved duplex RT-PCR assay for differential diagnosis of mixed infection of duck hepatitis A virus type 1 and type 3 in ducklings.

Infection with duck hepatitis A virus (DHAV) causes an acute, rapidly spreading, and fatal disease of young ducklings. DHAV type 1 (DHAV-1) and type 3 (DHAV-3) have been identified in China. In this study, a duplex RT-PCR assay was developed to identify DHAV-1 and DHAV-3 with mixed infection. The method was shown to be high specificity and sensitivity. The minimum detection limit of the method has been determined to be 10pg total RNA templates extracted from duck liver samples or 10² copies viral RNA of DHAV-1 and DHAV-3 respectively. Using the method, from 60 clinical liver samples of 26 duckling flocks in Shandong, Guangdong, Sichuan and Henan provinces of China, 15 (57.7%) flocks were identified as mixed infection of DHAV-1 and DHAV-3, and 9 (34.6%) flocks were DHAV-1 or DHAV-3 single infection. Among them, 38.3% (23/60) of duckling samples were detected as mixed infection of DHAV-1 and DHAV-3, and 48.3% (29/60) of samples were DHAV-1 or DHAV-3 single infection. These results indicated that the improved duplex RT-PCR method provides a rapid and cost-effective laboratory differential diagnosis for mixed infection of DHAV-1 and DHAV-3 in ducklings.