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Colorectal cancer (CRC) is the most common tumor of the digestive system and the third most common tumor worldwide. To date, the prognosis of CRC patients remains poor. It is urgent to identify new therapeutic targets for CRC. As a tumor suppresser, microRNA (miRNA) miR-502-5p is downregulated in CRC tissues. Nevertheless, the role of miR-502-3p in CRC is largely unclear. Besides, the transcript factor forkhead box protein O1 (FOXO1) could suppress the CRC cell growth. However, the effect of FOXO1 on miR-502-3p in CRC remains unknown. By contrast, cyclin-dependent kinases 6 (CDK6) promotes the CRC cell growth. Yet the regulatory effect of miR-502-3p on CDK6 in CRC has not been reported. Thus, the primary aim of this study was to investigate whether FOXO1 enhanced miR-502-3p expression to suppress the CRC cell growth by targeting CDK6. Here, RNA level and protein level were detected by quantitative reverse transcription-PCR (qRT-PCR) and western blot (WB), respectively. Besides, the cell growth was detected by Cell Counting Kit 8 (CCK8) assay. Moreover, the regulatory effect of FOXO1 on miR-502-3p or miR-502-3p on CDK6 was determined using dual-luciferase reporter gene (DLR) assay. Results revealed that miR-502-3p and FOXO1 were downregulated in CRC cells. Besides, miR-502-3p suppressed the CRC cell growth. Moreover, FOXO1 could increase the miR-502-3p level through facilitating MIR502 transcription in CRC cells. In addition, miR-502-3p could suppress the CRC cell growth by targeting CDK6. These findings indicated that FOXO1 induced miR-502-3p expression to suppress the CRC cell growth through targeting CDK6, which might provide new therapeutic targets for CRC.

Colorectal cancer (CRC) is the most common malignant tumor occurred in digestive system. However, the prognosis of CRC patients is poor. Therefore, it is urgent to illuminate the mechanism suppressing CRC and explore novel targets or therapies for CRC treatment. MicroRNAs (miRNAs) are a class of non-coding RNAs with a length of 20-23 nucleotides encoded by endogenous genes, which are associated with the development of a variety of cancers, including CRC. Studies have shown that miR-19a is identified as oncogenic miRNA and promotes the proliferation, migration and invasion of CRC cells. However, the relationship between miR-19a and ferroptosis in CRC remains unknown. Here, we reported that iron-responsive element-binding protein 2 (IREB2), as an inducer of ferroptosis, was negatively regulated by miR-19a. IREB2 is a direct target of miR-19a. In addition, ferroptosis was suppressed by miR-19a through inhibiting IREB2. Thus, we proposed a novel mechanism of ferroptosis mediated by miR-19a in CRC cells, which could give rise to a new strategy for the therapy of CRC.

2例抗乙酰胆碱抗体与抗电压门控钙通道抗体阳性的重症肌无力患儿，均为女性，确诊年龄分别为7、2岁，均以眼睑下垂、晨轻暮重起病，新斯的明试验阳性、重复电刺激示高频和低频刺激复合肌肉动作电位均递减10%、血清学抗体检测阳性。例1在使用吗替麦考酚酯、环磷酰胺治疗效果不佳后选择他克莫司治疗，随访6个月余肌无力症状缓解；例2在泼尼松联合溴吡斯的明治疗后随访1年3个月病情平稳。.

Dandan Zhao,1,2 Xiaoxiao Zhang,1,2 Yuhui Tang,1,2 Peilin Guo,1,2 Rong Ai,1,2 Mengmeng Hou,1,2 Yiqi Wang,1,2 Xiwei Yuan,1,2 Luyao Cui,1,2 Yuguo Zhang,1,2 Suxian Zhao,1,2 Wencong Li,1,2 Yang Wang,1,2 Xiaoye Sun,1,2 Lingdi Liu,1,2 Shiming Dong,1,2 Lu Li,1,2 Wen Zhao,1,2 Yuemin Nan1,2 1Department of Traditional and Western Medical Hepatology, Third Hospital of Hebei Medical University, Shijiazhuang, Hebei, People’s Republic of China; 2Hebei Provincial Key Laboratory of Liver Fibrosis in Chronic Liver Diseases, Shijiazhuang, Hebei, People’s Republic of ChinaCorrespondence: Yuemin Nan, Department of Traditional and Western Medical Hepatology, Third Hospital of Hebei Medical University, No. 139 Ziqiang Road, Shijiazhuang, Hebei Province, 050051, People’s Republic of China, Tel +86 311-66781227, Fax +86 311-66781289, Email nanyuemin@163.comPurpose: The aim of this study was to identify and validate novel biomarkers for distinguishing among hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), liver fibrosis/liver cirrhosis (LF/LC) and chronic hepatitis B (CHB).Patients and Methods: Transcriptomic sequencing was conducted on the liver tissues of 5 patients with HCC, 5 patients with LF/LC, 5 patients with CHB, and 4 healthy controls. The expression levels of selected mRNAs and proteins were assessed by quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemical (IHC) staining, and were verified in validation set (n=200) and testing set (n=400) via enzyme-linked immunosorbent assay (ELISA).Results: A total of 9 hub mRNAs were identified by short time-series expression miner and weighted gene co-expression network analysis. Of note, the results of qRT-PCR and IHC staining demonstrated that SHC adaptor protein 1 (SHC1), SLAM family member 8 (SLAMF8), and interleukin-32 (IL-32) exhibited gradually increasing trends in the four groups. Subsequent ELISA tests on the validation cohort indicated that the plasma levels of SHC1, SLAMF8 and IL-32 also gradually increased. Furthermore, a diagnostic model APFSSI (age, PLT, ferritin, SHC1, SLAMF8 and IL-32) was established to distinguish among CHB, LF/LC and HCC. The performance of APFSSI model for discriminating CHB from healthy subjects (AUC=0.966) was much greater compared to SHC1 (AUC=0.900), SLAMF8 (AUC=0.744) and IL-32 (AUC=0.821). When distinguishing LF/LC from CHB, APFSSI was the most outstanding diagnostic parameter (AUC=0.924), which was superior to SHC1, SLAMF8 and IL-32 (AUC=0.812, 0.684 and 0.741, respectively). Likewise, APFSSI model with the greatest AUC value displayed an excellent performance for differentiating between HCC and LF/LC than other variables (SHC1, SLAMF8 and IL-32) via ROC analysis. Finally, the results in the test set were consistent with those in the validation set.Conclusion: SHC1, SLAMF8 and IL-32 can differentiate among patients with HCC, LF/LC, CHB and healthy controls. More importantly, the APFSSI model greatly improves the diagnostic accuracy of HBV-associated liver diseases.Keywords: HBV-associated liver diseases, transcriptome sequencing technology, SHC adaptor protein 1, SLAM family member 8, interleukin-32

The aim of this study was to identify potential plasma biomarkers for hepatitis B virus (HBV)-related liver diseases. High-throughput transcriptome sequencing analysis was performed on five patients with chronic hepatitis B (CHB), five patients with HBV-associated liver fibrosis/liver cirrhosis (LF/LC), and four healthy participants. By short time-series expression miner and functional analysis, aquaporin 1 (AQP1), dystroglycan 1 (DAG1), and hemoglobin subunit beta (HBB) were identified as potential biomarkers. Immunohistochemical analysis revealed that the expression levels of AQP1, DAG1, and HBB were upregulated in the three groups. Subsequent enzyme-linked immunosorbent assay tests on the training cohort (n = 150) indicated that the plasma levels of AQP1 and DAG1 were highest in LF/LC patients, followed by those in CHB patients, and the lowest in healthy controls. APAD model, a diagnostic panel incorporating age, platelet, AQP1, and DAG1 levels, exhibited the strongest stratification ability to distinguish LF/LC patients from CHB patients, and to differentiate CHB patients from healthy controls. Furthermore, the diagnostic accuracies of the biomarkers and APAD model were verified in an independent cohort consisting of 230 participants. In conclusion, both AQP1 and DAG1 have good diagnostic values and APAD model greatly enhances the diagnostic accuracy for HBV-related hepatic diseases.

To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC).Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants of the TSC1 and TSC2 genes was detected by using targeted capture next-generation sequencing (NGS) and Sanger sequencing.The patient was found to harbor a de novo mosaicism variant c.3295_3298delG (Val1100CysfsTer3) of the TSC2 gene, with the proportion of the mutant allele determined as 13.4%, which was confirmed by Sanger sequencing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3295_3298delG (Val1100CysfsTer3) variant was predicted to be pathogenic (PVS1+PS2+PM2).The mosaicism heterozygous variant of c.3295_3298delG of the TSC2 gene, as detected by both NGS and Sanger sequencing, probably underlay the TSC2 in this patient.

BackgroundAt present, there are no accurate diagnostic biomarkers for distinguishing among hepatitis B virus (HBV)-related liver diseases. This research aimed to identify and validate a novel biomarker panel in patients with HBV-related hepatocellular carcinoma (HCC), liver fibrosis/liver cirrhosis (LF/LC) and chronic hepatitis B (CHB).MethodsTranscriptomics sequencing was conducted on a total of 19 liver tissues of the four groups. The hub mRNAs were identified using weighted gene co-expression network analysis (WGCNA) and short time-series expression miner (STEM) method. The expression levels of selected mRNAs and proteins were assessed by quantitative real-time polymerase chain reaction (qRT-PCR) using both liver tissues and peripheral blood mononuclear cells (PBMCs) and immunohistochemical (IHC) staining in liver tissues, respectively. Then, the expression activities of the screened targets were detected by enzyme-linked immunosorbent assay (ELISA) using the plasma samples from 200 and 400 subjects in the validation and testing sets, respectively. Finally, receiver operating characteristic (ROC) curve analysis was carried out to evaluate the diagnostic performance of each mRNA biomarker.ResultsSTEM analysis revealed 25 mRNAs exhibited an increasing trend in the four groups; while 9 hub mRNAs were identified by using WGCNA. Of note, the results of qRT-PCR and immunohistochemical analyses demonstrated that SHC adaptor protein 1 (SHC1), SLAM family member 8 (SLAMF8), and interleukin-32 (IL-32) exhibited a gradually increasing trend in the four groups. Subsequent ELISA tests on the validation cohort demonstrated that the plasma levels of SHC1, SLAMF8 and IL-32 were remarkably elevated in HCC group compared to the remaining three groups. Furthermore, a diagnostic model APFSSI (age, PLT, ferritin, SHC1, SLAMF8 and IL-32) was established to distinguish HCC from LF/LC (AUC=0.904), LF/LC from CHB (AUC=0.924), and CHB from healthy controls (AUC=0.966). Finally, the results in the test set were consistent with those in the validation set. ConclusionsSHC1, SLAMF8 and IL-32 can differentiate among HCC patients, LF/LC patients, CHB patients and healthy controls. More importantly, the combination of age, PLT, ferritin, SHC1, SLAMF8, and IL-32 (APFSSI model) greater improves the diagnostic accuracy of HBV-associated liver diseases.

Backgrounds As one of the most important cereals, wheat (Triticum aestivum) can cause severe allergic reactions, such as baker's asthma, allergic rhinitis, and atopic dermatitis. A growing number of people are developing allergies to Chinese wheat; however, only a few wheat cultivars have been screened on allergenicity in China. Objective The aim of the present study was to assess the allergenicity of different Chinese wheat cultivars and characterize wheat allergen profiles of patients with allergic rhinitis. Methods We determined protein (soluble protein, gliadin, and glutenin) composition in Chinese wheat by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), and the immunoglobulin E (IgE) binding capacity by enzyme-linked immunosorbent assay (ELISA) and Western blot using 10 positive sera from wheat allergy patients. We identified 5 gel bands with significant IgE binding capacity using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Results Soluble protein, albumin, and globulin, showed the highest allergenicity, followed by gliadin, while glutenin only had slight allergenicity. In soluble protein, 5 protein bands with molecular weights of 27, 28, 53, 58, and 62 kDa showed very significant allergenicity. Meanwhile, the relative abundances of 28 kDa-protein and 58 kDa-protein were significantly positively correlated with the IgE-binding capacity of Chinese wheat cultivars, which were identified as rRNA N-glycosidase and β-amylase, respectively, among other proteins in those highly complex gel bands. Conclusion and clinical relevance 28 kDa-protein (rRNA N-glycosidase) and 58 kDa-protein (β-amylase) were speculated to be the main allergens of Chinese wheat causing baker's asthma and allergic rhinitis. These results provide new insights into the prevention and treatment of wheat allergy and the development of hypoallergenic wheat products, whose clinical significance is worth further evaluation.

To study the effect and mechanism of microRNA-140-5p on inflammatory factors in autistic rats induced by valproate. 50 Sprague-dawley rats at 12.5 d of pregnancy were randomly selected and divided into groups. The valproate group (10 rats) was intraperitoneally injected with valproate (600 mg/kg); the valproate+microRNA-negetive control group was intraperitoneally injected with valproate (600 mg/kg) and microRNA-negetive control; valproate+microRNA-140-5p group, intraperitoneal injection of valproate (600 mg/kg) and microRNA-140-5p; valproate+microRNA-140-5p+phorbol 12-myristate 13-acetate group was intraperitoneally injected with valproate (600 mg/kg) and microRNA-140-5p and phorbol 12-myristate 13-acetate. The control group (10 rats) was intraperitoneally injected with the same amount of normal saline. The impact of injury, polymerase chain reaction and enzyme-linked immunosorbent assay methods to detect the impact of inflammation-related and nuclear factor kappa B-related genes and proteins expression. The results showed that valproate-induced autistic rats may cause death or malformation, microRNA-140-5p may alleviate the death or malformation caused by it and phorbol 12-myristate 13-acetate may reverse the therapeutic effect of microRNA-140-5p; valproate modeling will cause the weight loss of rats and the high expression of microRNA-140-5p can effectively alleviate the weight loss and the use of phorbol 12-myristate 13-acetate will cause weight loss; microRNA-140-5p can shorten the time of opening eyes for the first time in valproate mice and can improve the learning and memory ability of valproate rats and the pathological damage of brain tissue; microRNA-140-5p can also inhibit the activation of nuclear factor kappa B signal to achieve the effect of inhibiting the expression of inflammatory factors. MicroRNA-140-5p reduces the secretion of inflammatory factors in valproate-induced autistic rats by regulating the nuclear factor kappa B signaling pathway.

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. We also present a review of SGS cases, and first revise diagnostic criteria of SGS based on clinicalfindings and/or SETBP1 mutation worldwide. A revised diagnostic criteria and typing of SGS can be determined. Type I (complex and classic type) SGS patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic skeletal anomalies (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs). Type II (middle type) patients show development delay and the distinctive facial phenotype (midface retraction, short and upturned nose), lacking both hydronephrosis and typical skeletal abnormalities, with existence of SETBP1mutation. Type III (simple type) patients with SETBP1 alteration show their major symptom is development delay, in which expressive language delay is the most striking feature. Central nervous system involvement with development delay in which expressive language delay is much more obviously affected is the most prominent feature of SGS. There is another indication that severity of phenotype of SGS may be inversely correlated with degree of SETBP1 alteration, besides gain-of-function or dominant-negative effects in SETBP1 alteration causing SGS.

SiC foam ceramic reinforced aluminum matrix composites (SFCAMCs) were prepared by squeeze casting aluminum alloy (Al–23Si) into the SiC foam ceramic with different pore sizes, and the corrosion behavior of the SFCAMCs was studied in NaCl solutions. Static immersion corrosion tests were conducted at 20 °C, 50 °C and 80 °C, respectively. Corrosion morphology and products were analyzed by scanning electron microscope, energy dispersive system and X-ray diffraction. It was found that the corrosion rate of SFCAMCs increases as the temperature rising, and the bigger pore size of SiC foam ceramic reinforcement, the better corrosion resistance of SFCAMCs.

Objective To study the mechanism of p38/myocyte enhancer factor 2C (p38/MEF2C) pathway regulating synapse before and after autophagy intervention in the prefrontal cortex of autistic rats. Methods An animal model of autism was induced by intraperitoneal injection of valproic acid (VPA) at 12.5 days of gestation in Wistar rats. They were treated with normal saline or VPA. The offspring of the saline treatment group served as a control group. The offspring of the VPA treatment group were randomly divided into the model group, 5 mg/kg 3-methyladenine (3-MA) group, and 5 mg/kg rapamycin (Rap) autophagy enhanced group, and the treatment time of each group was from the 35th day of birth to the 42nd day of birth. Western blot analysis was used to detect the protein levels of p38, phosphorylated p38 (p-p38), MEF2C, synaptic vesicle protein (SYN), postsynaptic density 95 (PSD-95), and gephyrin protein in the prefrontal cortex of rats; immunohistochemical staining was used to detect the expression and distribution of SYN, PSD-95 and gephyrin in the prefrontal cortex, and semi-quantitative analysis was performed then. Results Compared with the control group, the developmental and behavioral test showed that the model group had developmental lag and social disorder. Compared with the model group, the Rap group shoed improved social disorder, and the 3-MA group could aggravate social disorder. Compared with the control group, the expression of p38, p-p38, MEF2C was down-regulated, the expression of SYN and PSD-95 protein was up-regulated, and the expression of gephyrin was down-regulated. Compared with the model group, the expression of p38, p-p38, MEF2C in the Rap group was up-regulated, the levels of SYN and PSD-95 protein were down-regulated, and the level of gephyrin protein was up-regulated, while that in 3-MA group was opposite. Compared with the control group, the number of SYN and PSD-95 positive cells in the model group increased, and the number of gephyrin positive cells decreased. Compared with the model group, the number of SYN and PSD-95 positive cells in the Rap group decreased, and the number of gephyrin-positive cells increased, and the 3-MA group was opposite. Conclusion The p38/MEF2C signaling pathway is inhibited in the prefrontal cortex of rats with autism, which can regulate the expression of synaptic related proteins and improve autistic behavior by enhancing autophagy to activate the p38/MEF2C signaling pathway.

Wilson disease (WD) is a rare autosomal recessive genetic disorder that causes abnormal copper metabolism, resulting in pathological accumulation of copper in the liver, brain and other organs. Mutations in the ATPase copper transporter 7B (ATP7B) gene, which encodes a membrane P‑type adenosine triphosphatase, have been identified as being responsible for WD. The present study analyzed clinical data and collected DNA samples from a pediatric patient with WD and her healthy parents. Mutation screening for ATP7B was performed using direct sequencing, multiplex ligation‑dependent probe amplification(MLPA), next‑generation sequencing (NGS) and Sanger sequencing of the breakpoint junction sequence. The patient (age, 2.7 years) presented with early‑onset hepatic disease. The present study identified compound heterozygous mutations of ATP7B, including a heterozygous mutation (p.Arg1,041Trp) and a novel heterozygous gross deletion of a 57,771 bp fragment (chr13: 52490972‑52548742) (GRCh37) from partial exon2‑ exon21 to external ATP7B sequence (15.833bp) in the patient. Analysis of the family members of the patient showed that the missense mutation and the gross deletion mutation were inherited from her mother and father, respectively. Microhomology and inverted repeat sequences, which may mediate the deletion mutation, were identified through sequence analysis on both sides of the breakpoints of this deletion. The present study provided additional information on the genotypic spectrum of the ATP7B gene, particularly with regard to early onset hepatic disease, as observed in the present patient with WD. The identification of the precise breakpoint junction sequence warrants further investigation of DNA break and recombination mechanisms. In detecting precise deletions, the NGS associated with Sanger sequencing of breakpoint junction sequence have been found to have more advantages than MLPA.

Shellfish allergy is a crucial public health problem and a severe food safety issue, resulting in an urgent need for an accurate, simple and sensitive method to detect the shellfish allergens in complex food systems. Herein, we have desighed an “on-off-on” fluorescence aptasensor based on fluorescence resonance energy transfer (FRET) using prepared carboxyl groups functionalized CQDs (cCQDs) and graphene oxide (GO) for the detection and quantification of the major shellfish allergen arginine kinase (AK). The FRET aptasensor allowed for the sensitive detection of AK in the range of 0.001–10 μg/mL with the limit of detection (LOD) of 0.14 ng/mL (S/N = 3), and the limit of quantitation (LOQ) of 0.27 ng/mL (S/N = 10). This reliable, accurate and specific aptasensor with user-friendly operation may provide new perspectives in the application of fluorescence technologies for food allergens detection in the field of food safety.

The aim of the present study was to evaluate the role of 2-D speckle-tracking imaging in the prediction of left ventricular filling pressure in patients with coronary artery disease (CAD) and normal left ventricular ejection fraction (LVEF). Eighty-four patients with CAD and 30 healthy controls were recruited prospectively. The longitudinal strain rate (SR) curves were determined in three apical views of the left ventricle long axis. Circumferential and radial SR curves were determined in three short-axis views. Left ventricular end-diastolic pressure (LVEDP) was invasively obtained by left heart catheterization. Compared with the 30 controls, the patients with CAD had significantly lower global SR during early diastole (SRe) and higher E/SRe in three directions of myocardial deformation. CAD patients with elevated LVEDP had significantly lower SRe and higher E/SRe of three deformations. Pearson's correlation analysis revealed that LVEDP correlated positively with E/E' ratio, radial SRe and longitudinal and circumferential E/SRe. LVEDP correlated negatively with longitudinal and circumferential SRe and radial E/SRe. Receiver operating characteristic curve analysis revealed that these SR indexes predicted elevated LVEDP (areas under the curve: longitudinal E/SRe = 0.74, circumferential E/SRe = 0.74, circumferential SRe = 0.70, longitudinal SRe = 0.69, radial E/SRe = 0.68, radial SRe = 0.65), but neither was superior to the tissue Doppler imaging index E/E' (area under the curve = 0.84). The present study indicates that 2-D speckle-tracking imaging is a practical method for evaluating LV filling pressure, but it might not provide additional advantages compared with E/E' in CAD patients.

Background This study evaluated the role of two-dimensional speckle tracking echocardiography (2DSTE) for predicting left ventricular (LV) diastolic dysfunction in pacing-induced canine heart failure. Methods Pacing systems were implanted in 8 adult mongrel dogs, and continuous rapid right ventricular pacing (RVP, 240 beats/min) was maintained for 2 weeks. The obtained measurements from 2DSTE included global strain rate during early diastole (SRe) and during late diastole (SRa) in the longitudinal (L-SRe, L-SRa), circumferential (C-SRe, C-SRa), and radial directions (R-SRe, R-SRa). Changes in heart morphology were observed by light microscopy and transmission electron microscopy at 2 weeks. Results The onset of LV diastolic dysfunction with early systolic dysfunction occurred 3 days after RVP initiation. Most of the strain rate imaging indices were altered at 1 or 3 days after RVP onset and continued to worsen until heart failure developed. Light and transmission electron microscopy showed myocardial vacuolar degeneration and mitochondrial swelling in the left ventricular at 2 weeks after RVP onset. Pearson's correlation analysis revealed that parameters of conventional echocardiography and 2DSTE showed moderate correlation with LV pressure parameters, including (r = 0.58, P < 0.01), L-SRe (r = −0.58, P < 0.01), E/L-SRe (r = 0.65, P < 0.01), and R-SRe (r = 0.53, P < 0.01). ROC curves analysis showed that these indices of conventional echocardiography and strain rate imaging could effectively predict LV diastolic dysfunction (area under the curve: 0.78; L-SRe 0.84; E/L-SRe 0.80; R-SRe 0.80). Conclusion 2DSTE was a sensitive and accurate technique that could be used for predicting LV diastolic dysfunction in canine heart failure model.

A laser- induced fluorescence detection set based on liquid core optical fiber was established in this study. Eight edible oils were discriminated by using this detection set combined with chemometrics method. The effect of length of liquid core optical fiber on laser induced fluorescence spectrum was explored, and the differences between the spectra of different edible oils were analyzed. The fluorescence spectra of 320 samples covering 8 types of edible oil were measured in 1 meter liquid core optical fiber. Principal component analysis was used in fluorescence data dimensionality reduction process. Partial least squares discriminant analysis (PLS-DA) method was used to develop the identification model to distinguish edible oil species. The results showed that the oil fluorescence intensity is greatly enhanced when liquid core optical fiber was used. With the increase of liquid core optical fiber length，the peaks of laser induced edible oil fluorescence spectra increased and the fluorescence spectra will produce red shift. The red shift tended to a constant value when the fiber length was more than 80 cm. The fluorescence spectra of different edible oils were quite different, its can be used to distinguish different types of edible oil. Principal component scores chart were get using PC1 and PC2 of edible oils fluorescence data which result in a trend of certain gather of same type of edible oil. The recognition rates of PLS-DA model for the calibration set and prediction set were both 100%. The study shows that the developed device in this study has high accuracy for identifying the edible oil species.

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant inheritance disorder. Heterozygous de novo mutations in the SETBP1 gene have been identified as the genetic cause of SGS. Here, we report a novel case with the syndrome with a novel insertion mutation in SETBP1. We also present a review of SGS cases, and first revise diagnostic criteria of SGS based on clinicalfindings and/or SETBP1 mutation worldwide. A revised diagnostic criteria and typing of SGS can be determined. Type I (complex and classic type) SGS patients present a development delay and typical facial features (prominent forehead, midface retraction, and short and upturned nose) associated with hydronephrosis or two of the characteristic skeletal anomalies (a sclerotic skull base, wideoccipital synchondrosis, increased cortical density or thickness, and broad ribs). Type II (middle type) patients show development delay and the distinctive facial phenotype (midface retraction, short and upturned nose), lacking both hydronephrosis and typical skeletal abnormalities, with existence of SETBP1mutation. Type III (simple type) patients with SETBP1 alteration show their major symptom is development delay, in which expressive language delay is the most striking feature. Central nervous system involvement with development delay in which expressive language delay is much more obviously affected is the most prominent feature of SGS. There is another indication that severity of phenotype of SGS may be inversely correlated with degree of SETBP1 alteration, besides gain-of-function or dominant-negative effects in SETBP1 alteration causing SGS.

Objectives The purpose of this study was to investigate the diagnostic value of 3-dimensional (3D) speckle-tracking echocardiography for estimating left ventricular filling pressure in patients with coronary artery disease (CAD) and a preserved left ventricular ejection fraction. Methods Altogether, 84 patients with CAD and 30 age- and sex-matched healthy control participants in sinus rhythm were recruited prospectively. All participants underwent conventional and 3D speckle-tracking echocardiography. Global strain values were automatically calculated by 3D speckle-tracking analysis. The left ventricular end-diastolic pressure (LVEDP) was determined invasively by left heart catheterization. Echocardiography and cardiac catheterization were performed within 24 hours. Results Compared with the controls, patients with CAD showed lower global longitudinal strain, global circumferential strain, global area strain, and global radial strain. Patients with CAD who had an elevated LVEDP had much lower levels of all 4 3D-speckle-tracking echocardiographic variables. Pearson correlation analysis revealed that the LVEDP correlated positively with the early transmitral flow velocity/early diastolic myocardial velocity (E/E') ratio, global longitudinal strain, global circumferential strain, and global area strain. It correlated negatively with global radial strain. Receiver operating characteristic curve analysis revealed that these 3D speckle-tracking echocardiographic indices could effectively predict elevated left ventricular filling pressure (LVEDP >15 mm Hg) in patients with CAD (areas under the curve: global longitudinal strain, 0.78; global radial strain, 0.77; global circumferential strain, 0.75; and global area strain, 0.74). These parameters, however, showed no advantages over the commonly used E/E' ratio (area under the curve, 0.84). Conclusions Three-dimensional speckle-tracking echocardiography was a practical technique for predicting elevated left ventricular filling pressure, but it might not be superior to the commonly used E/E' ratio in patients with CAD who have a normal left ventricular ejection fraction.

1 patient with SSPE at 4 y. He had had measles and measles encephalitis at 7.5 months. In China, the first and the second measles immunizations are recommended at 8 months and at 18–24 months, respectively. We recommend above immunizations should be given separately at 6 months and at 12–15 months.

Joubert syndrome (JS) is a rare, complex autosomal recessive inherited disorder mostly characterized by partial or complete agenesis of the cerebellar vermis. There is a wide clinical and genetic heterogeneity in the syndrome. The main clinical features of JS are hypotonia, ataxia, developmental delay, oculomotor apraxia, breathing abnormalities and peculiar neuroimaging findings. A lot of additional features have been reported. Here, we first reported a case of the syndrome with natural killer (NK) cell deficiency. NK cell deficiency in JS might be not an incidental phenomenon. NK cell deficiency might be associated with JS when there are additional features such as recurrent infections and tumors. NK cell deficiency may be part of the clinical spectrum of JS. Reduced cellular immunity in association with NK cell deficiency may be a feature in a subset of JS patients, especially if there is a history of recurrent infections, tumors and autoimmune disorders.

Directional solidification experiments on Pb–Bi peritectic alloys were carried out at very low growth rate (v=0.5 μm/s) and high temperature gradient (G=35 K/mm) in an improved Bridgman furnace. The banding structures were observed in both hypoperitectic and hyperperitectic compositions (Pb–xBi, x=26%, 28%, 30% and 34%). Tree-like primary α phase in the center of the sample surrounded by the peritectic β phase matrix was also observed, resulting from the melt convection. The banding microstructure, however, is found to be transient after the tree-like structure and only the peritectic phase forms after a few bands. Composition variations in the banding structure are measured to determine the nucleation undercooling for both α and β phases. In a finite length sample, convection is shown to lead only to the transient formation of bands. In this transient banding regime, only a few bands with a variable width are formed, and this transient banding process can occur over a wide range of compositions inside the two-phase peritectic region.

The biogas generator temperature control is very important to the temperature of the biogas generator for effective control, So the temperature must be monitored. Pre-estimated by measuring the temperature and fast temperature control is the most effective means. In this paper, using time series analysis method, we establish three prediction models, which are namely autoregressive model, moving average model, hybrid model. By comparison of three models, the final choice to predict the temperature of the biogas generator is mixed model analysis of time series. The test error is very small, indicating that the method has some practical value.

This study discussed the feasibility of taste quality evaluation for green tea infusion using electronic tongue. Chemistry evaluation was regarded as the reference measurement, and used to measure total taste scores of green tea infusion. LS-SVM was used to build the correlativity between the sensor signals of green tea infusion and total taste scores by the reference measurement, and compared the influence of different principal components on the performance of LS-SVM model. Experimental results showed that the optimal model was obtained when 4 PCs were included with Rc=0.951 and RMSECV=3.242 in calibration set, Rp=0.904 and RMSEP=4.134 in the prediction set. This study showed that the electronic tongue had a great potential in the evaluation of taste quality for green tea and LS-SVM was an efficient method to build the evaluation model based on electronic tongue.

This study attempted the feasibility to determine the ratio of tea polyphenols to amino acids in green tea infusion using near infrared (NIR) spectroscopy combined with synergy interval PLS (siPLS) algorithms. First, SNV was used to preprocess the original spectra of tea infusion; then, siPLS was used to select the efficient spectra regions from the preprocessed spectra. Experimental results showed that the spectra regions [7 8 18] were selected, which were out of the strong absorption of H2O. The optimal PLS model was developed with the selected regions when 6 PCs components were contained. The RMSEP value was equal to 0.316 and the correlation coefficient (R) was equal to 0.8727 in prediction set. The results demonstrated that NIR can be successfully used to determinate the ration of tea polyphenols to amino acids in green tea infusion.

Background Hypoxia-inducible factor 1 (HIF-1) is a critical regulator for cellular oxygen balance. Myocardial hypoxia can induce the increased expression of HIF-1α. Our goals were to evaluate the value of HIF-1α in predicting death of patients with acute decompensated heart failure (ADHF) and describe the in vivo relationship between serum HIF-1α and N-terminal–pro-brain natriuretic peptide (NT-proBNP) levels. Method We included 296 patients who were consecutively admitted to the emergency department for ADHF. The primary end point was in-hospital death. The patients were categorized as HFrEF (patients with reduced systolic function) and HFpEF (patients with preserved systolic function) groups. Results In our patients, the median admission HIF-1α level was 2.95 ± 0.85 ng/ml. The HIF-1α level was elevated significantly in HFrEF patients and deceased patients compared with HFpEF patients and patients who survived. The HIF-1α level was positively correlated with NT-proBNP and cardiac troponin T levels, and negatively correlated with left ventricular ejection fraction and systolic blood pressure. Kaplan–Meier curves revealed a significant increase in in-hospital mortality in ADHF patients with higher HIF-1α levels. Multivariable Cox regression analysis showed that HIF-1α levels were not correlated with the short-term prognosis of ADHF patients. Conclusions This is the first study to evaluate the circulating levels of HIF-1α in ADHF patients. Serum HIF-1α levels may reflect a serious state in patients with ADHF. Due to the limitations of the study, serum HIF-1α levels were not correlated with the in-hospital mortality based on regression analysis. Further studies are needed to demonstrate the diagnostic and/or prognostic role of HIF-1α as a risk biomarker in patients with ADHF.

The human glioma cell line M059J is deficient in DNA-dependent protein kinase (DNA-PK) due to a frame-shift mutation in PRKDC, the gene for its catalytic subunit, while cell line M059K, isolated from the same malignant tumor, has normal DNA-PK activity. DNA-PK is required for double-strand DNA break repair, and its absence is responsible for increased radiosensitivity of M059J. We show that transcripts of several melanoma antigen subfamily A (MAGE-A) genes, the expression of which is restricted to tumor and germ-line cells, are present in M059K, but that their expression is strongly downregulated in M059J. Normal levels of MAGE-A expression are restored in the PRKDC-complemented cell line M059J/Fus1, suggesting that the presence of DNA-PK is required for MAGE-A gene transcription. We also show that the MAGE-A1 promoter is methylated in M059J, while the promoter is demethylated in M059K and M059J/Fus1. Other genes, including all three major histocompatibility class I (HLA) genes, BENE, and an unnamed gene related to CNIL (CORNICHON-like), display an opposite expression profile (i.e., they are upregulated in the DNA-PK-deficient cell line, but show low levels of expression in both M059K and in the PRKDC-complemented cell line). For these genes, differential expression does not correlate with DNA methylation in upstream promoter sequences. Our results suggest that the presence of DNA-PK can exert effects on gene expression by various mechanisms and pathways, thus affecting overall cell physiology even in the absence of DNA damage.

Crigler-Najjar (CN) syndrome is a rare autosomal recessive inherited disorder characterized by non-hemolytic, unconjugated hyperbilirubinemia. The levels of serum bilirubin and the response to phenobarbital treatment have been used to classify CN syndrome into two types: CN I and II. Mutations of the UGT1A1 gene have been found to be responsible for cases of CN syndrome. In the present study, the clinical features of a boy with an unusual type of CN syndrome were analysed. A DNA sample was obtained from the patient, and the promoter region, the exons and flanking intronic sequences of the UGT1A1 gene were analysed using the polymerase chain reaction and sequencing. The case was similar to CN type I in clinical features, but the therapeutic efficacy in the patient was superior to that typically observed in CN type II disease. Sequencing revealed compound heterozygous mutations, c.211G>A (p.G71R), c.1470C>T (p.D490D) and a normal homozygous A[TA]6TAA. No similar case has been reported worldwide and, considering the specific clinical features and therapeutic efficacy, a distinct type of CN was suspected. The phenotype of this unusual CN syndrome patient may be associated with the specific genotype.

Previous studies focused on indels in the complement C345 protein family identified a number of potential protein-protein interaction sites in components C3 and C5. Here, one of these sites in C5, near the α-chain C terminus, was examined by alanine-scanning mutagenesis at 16 of the 18 non-alanine residues in the sequence KEALQIKYNFSFRYIYPLD. Alanine substitutions affected activities in the highly variable manner characteristic of binding sites. Substitutions at the lysine or either phenylalanine residue in the central KYNFSF sequence had the greatest effects, yielding mutants with

We recently suggested that sites of length polymorphisms in protein families (indels) might serve as useful guides for locating protein:protein interaction sites. This report describes additional site-specific mutagenesis and synthetic peptide inhibition studies aimed at testing this idea for the paralogous complement C3, C4, and C5 proteins. A series of C5 mutants was constructed by altering the C5 sequence at each of the 27 indels in this protein family. Mutants were expressed in COS cells and were assayed for hemolytic activity and protease sensitivity. Mutants at five indels showed relatively normal expression but substantially reduced sp. act., indicating that the mutations damaged sites important for C5 function. Twenty-three synthetic peptides with C5 sequences and 10 with C3 sequences were also tested for the ability to inhibit C hemolytic activity. Three of the C5 peptides and one of the C3 peptides showed 50% inhibition of both C hemolytic and bactericidal activities at a concentration of 100 μM. In several cases both the mutational and peptide methods implicated the same indel site. Overall, the results suggest that regions important for function of both C3 and C5 lie proximal to residues 150–200 and 1600–1620 in the precursor sequences. Additional sites potentially important for C5 function are near residue 500 in the β-chain and at two or three sites between the N-terminus of the α′-chain and the C5d fragment. One of the latter sites, near residue 865, appears to be important for proteolytic activation of C5.

Engineered mutants of human complement component C3 were used to test the idea that sites of length polymorphisms in protein families (indels) can guide a search for protein:protein interaction sites. Sequence changes were introduced at each of the 27 indels in the C3/4/5 protein family, and mutants at 26 indels were expressed by transiently transfected COS cells. Expressed proteins were assayed 1) for concentration, by ELISA and by autoradiography of radiolabeled protein; 2) for classical pathway hemolytic activity; 3) for susceptibility to proteolytic activation by the alternative pathway and cobra venom factor C3 convertases; and 4) for susceptibility to complement factor I in the presence of factor H. Most of the mutations did not appreciably alter expression or activity relative to wild-type C3, consistent with the idea that most indels occur at the protein surface. Mutations at four indels severely damaged C3 functional activity, but did not affect the stability or structure of the protein, as assessed by their effects on expression by COS cells and on susceptibility to cleavage by C3 convertases and factor I. These indels are therefore near functionally important amino acid residues; they represent good candidates for sites of protein:protein interactions. Mutation of the sequence at a fifth indel altered the equilibrium between the latent and reacted C3 conformations, and mutations at 4 other indels substantially decreased both protein activity and expression. The mutants provided an overview of the structural and functional roles played by different parts of C3.