Individuals with congenital absence of the vas deferens(CAVD)may transmit cystic fibrosis(CF)-causing variants of the cystic fibrosis transmembrane conductance regulator(CFTR)gene to their offspring through assisted r...Individuals with congenital absence of the vas deferens(CAVD)may transmit cystic fibrosis(CF)-causing variants of the cystic fibrosis transmembrane conductance regulator(CFTR)gene to their offspring through assisted reproductive technology(ART).We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis.CFTR was sequenced in 145 Chineseindividuals with CAVD.CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance.A comprehensive genotype analysis was performed in Chinese individuals with CAVD,incorporating previous studies and our study cohort.The prevalence of CF-causing variants was estimated through meta-analysis.In our cohort,56 differentCFTR variants were identified in 108(74.5%)patients.Twenty variants were categorized as CF-causing and were detected in 28(19.3%)patients.A comprehensive genotype analysis of 867 patients identified 174 differentCFTR variants.Sixty-four were classified as CF-causing variants,56.3%of which had not been previously reported in Chinese patients with CF.Meta-analysis showed that 14.8%(95%confidence interval[CI]:11.0%-18.9%)CAVD cases harbored one CF-causing variant,and 68.6%(95%CI:65.1%-72.0%)CAVD cases carried at least one CFTR variant.Our study underscores the urgent need for extensiveCFTR screening,including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants,in Chinese individuals with CAVDbefore undergoing ART.The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.展开更多
Feature detection and matching play important roles in many fields of computer vision, such as image understanding, feature recognition, 3D-reconstruction, video analysis, etc. Extracting features is usually the first...Feature detection and matching play important roles in many fields of computer vision, such as image understanding, feature recognition, 3D-reconstruction, video analysis, etc. Extracting features is usually the first step for feature detection or matching, and the gradient feature is one of the most used selections. In this paper, a new image feature-absence importance （AI） feature, which can directly characterize the local structure information, is proposed. Greatly different from the most existing features, the proposed absence importance feature is mainly based on the consideration that the absence of the important pixel will have a great effect on the local structure. Two absence importance features, mean absence importance （MAI） and standard deviation absence importance （SDAI）, are defined and used subsequently to construct new algorithms for feature detection and matching. Experiments demonstrate that the proposed absence importance features can be used as an important complement of the gradient feature and applied successfully to the fields of feature detection and matching.展开更多
Cystic fibrosis(CF)is one of the most common recessive genetic diseases,with a wide spectrum of phenotypes,ranging from infertility to severe pulmonary disease.Mutations in the cystic fibrosis transmembrane conductanc...Cystic fibrosis(CF)is one of the most common recessive genetic diseases,with a wide spectrum of phenotypes,ranging from infertility to severe pulmonary disease.Mutations in the cystic fibrosis transmembrane conductance regulator(CFTR)gene are considered the main genetic cause for CF.In this study,we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens(CUAVD),and one female patient diagnosed with congenital absence of the uterus(CAU).Testicular biopsy of one patient was performed,and hematoxylin and eosin(H and E)staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids,indicating obstructive azoospermia.To explore the underlying genetic factor in this familial disorder,we therefore performed whole-exome sequencing(WES)on all available family members.WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients(two CUAVD patients carried p.H949Y and p.L997F,and one CUAVD and the female CAU patient carried p.H949Y and p.I148T).All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing.Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.展开更多
BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma...BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), and obtained abundant clinical diagnostic data. However, PIVKA-II and AFP have unsatisfactory specificity and sensitivity in the diagnosis of early-stage HBV-related HCC. Gamma-glutamyltransferase (γ-GT) and aspartate aminotransferase (AST) are common biomarkers for evaluating liver function, and we hypothesized that the γ-GT/AST ratio in combination with PIVKA-II and AFP would improve the diagnosis of early-stage HBV-related HCC. AIM To evaluate the diagnostic value of γ-GT/AST ratio alone or in combination with PIVKA-II and AFP in HBV-related HCC. METHODS Serum levels of γ-GT, AST, PIVKA-II, and AFP were detected and analysed in 176 patients with HBV-related HCC and in 359 patients with chronic hepatitis B. According to tumour size and serum level of HBV DNA, HBV-related HCC patients were divided into the following categories: Early-stage HCC patients, HCC patients, HBV DNA positive (HBV DNA+) HCC patients, and HBV DNA negative (HBV DNA-) HCC patients. Receiver-operating characteristic (ROC) curves were used to analyse and compare the diagnostic value of the single and combined detection of various biomarkers in different types of HBV-related HCC. RESULTS Tumour size was positively correlated with serum levels of PIVKA-II and AFP in HCC patients (r = 0.529, aP < 0.001 and r = 0.270, bP < 0.001, respectively), but there was no correlation between tumour size and the γ-GT/AST ratio (r = 0.073, P = 0.336). The areas under the receiver-operating characteristic curves (AUROCs) of the γ-GT/AST ratio in early-stage HCC patients, HBV DNA+ HCC patients and HBV DNA- HCC patients were not significantly different from that in the total HCC patients (0.754, 0.802, and 0.705 vs 0.779, respectively;P > 0.05). When PIVKA-II was combined with the γ-GT/AST ratio in the diagnosis of earlystage HCC, HCC, and HBV DNA+ HCC, the AUROCs of PIVKA-II increased, with values of 0.857 vs 0.835, 0.925 vs 0.913, and 0.958 vs 0.954, respectively. When AFP was combined with the γ-GT/AST ratio in the diagnosis of early-stage HCC, HCC, HBV DNA+ HCC, and HBV DNA- HCC, the AUROCs of AFP increased, with values of 0.757 vs 0.621, 0.837 vs 0.744, 0.868 vs 0.757, and 0.840 vs 0.828, respectively. CONCLUSION The γ-GT/AST ratio may be better than PIVKA-II and AFP in the diagnosis of early-stage HBV-related HCC, and its combination with PIVKA-II and AFP can improve the diagnostic value for HBV-related HCC.展开更多
Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC...Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC studies. This study aimed to compare the performance of PIVKA-Ⅱ with alpha-fetoprotein(AFP) in the diagnosis of HCC. Data sources: A systematic literature search was conducted to identify the studies from MEDLINE, Embase and Cochrane Library Databases, which were published up to December 20, 2017 to compare the diagnostic capability of PIVKA-Ⅱ and AFP for HCC. The data were pooled using random effects model. Pooled sensitivity and specificity were calculated. Summary receiver operating characteristic curve(ROC) was employed to evaluate the diagnostic accuracy of each marker. Results: Thirty-one studies were included. The pooled sensitivity(95% CI) of PIVKA-Ⅱ and AFP was 0.66(0.65–0.68) and 0.66(0.65–0.67), respectively in diagnosis of HCC; and the corresponding pooled specificity(95% CI) was 0.89(0.88–0.90) and 0.84(0.83–0.85), respectively. The area under the ROC curve(AUC) of PIVKA-Ⅱ and AFP was 0.856(0.817–0.895) and 0.770(0.728–0.811), respectively. Subgroup analysis showed that PIVKA-Ⅱ was superior to AFP in terms of the AUC for both small HCC( < 3 cm) [0.863(0.825–0.901) vs 0.717(0.658–0.776)] and large HCC( ≥ 3 cm) [0.854(0.811–0.897) vs 0.729(0.682–0.776)]; for American [0.926(0.897–0.955) vs 0.698(0.594–0.662)], European [0.772(0.743–0.801) vs 0.628(0.594–0.662)], Asian [0.838(0.812–0.864) vs 0.785(0.764–0.806)] and African [0.812(0.794–0.840) vs 0.721(0.675–0.767)] HCC patients; and for HBV-related [0.909(0.866–0.951) vs 0.714(0.673–0.755)] and mixed-etiology [0.847(0.821–0.873) vs 0.794(0.772–0.816)] HCC. Conclusion: This meta-analysis indicates that PIVKA-Ⅱ is better than AFP in terms of the accuracy for diagnosing HCC, regardless of tumor size, patient ethnic group, or HCC etiology.展开更多
Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present w...Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension （PH） or portosystemic encephalopathy （PSE）, but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography （US）, computed tomography （CT） and magnetic resonance imaging （MR1）. The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient.展开更多
Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequent...Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis （CF） frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR （TG）m（T）n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F5OSdel mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients （97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T）. Moreover, a statistically significant relationship between TG 12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.展开更多
Presently,we develop a simplified corticothalamic(SCT)model and propose a single-pulse alternately resetting stimulation(SARS)with sequentially applying anodic(A,“+”)or cathodic(C,“−”)phase pulses to the thalamic ...Presently,we develop a simplified corticothalamic(SCT)model and propose a single-pulse alternately resetting stimulation(SARS)with sequentially applying anodic(A,“+”)or cathodic(C,“−”)phase pulses to the thalamic reticular(RE)nuclei,thalamus-cortex(TC)relay nuclei,and cortical excitatory(EX)neurons,respectively.Abatement effects of ACC-SARS of RE,TC,and EX for the 2 Hz-4 Hz spike and wave discharges(SWD)of absence seizures are then concerned.The m∶n on-off ACC-SARS protocol is shown to effectively reduce the SWD with the least current consumption.In particular,when its frequency is out of the 2 Hz-4 Hz SWD dominant rhythm,the desired seizure abatements can be obtained,which can be further improved by our proposed directional steering(DS)stimulation.The dynamical explanations for the SARS induced seizure abatements are lastly given by calculating the averaged mean firing rate(AMFR)of neurons and triggering averaged mean firing rates(TAMFRs)of 2 Hz-4 Hz SWD.展开更多
Protein induced by vitamin K absence or antagonist Ⅱ(PIVKA-Ⅱ) is a putative specific marker of hepatocellular carcinoma(HCC),but it may also be produced by asmall number of gastric cancers.To date,16 cases of PIVKA-...Protein induced by vitamin K absence or antagonist Ⅱ(PIVKA-Ⅱ) is a putative specific marker of hepatocellular carcinoma(HCC),but it may also be produced by asmall number of gastric cancers.To date,16 cases of PIVKA-Ⅱ-producing gastric cancer have been reported,2 of which were reported by us and all of which were identified in Japan.There are no symptoms specific to PIVKA-Ⅱ-producing gastric cancer,and the representative clinical symptoms are general fatigue,appetite loss,and upper abdominal pain.Serum alpha-feto-protein(AFP)levels are also increased in almost allcases.Liver metastasis is observed in approximately 80% of cases and portal vein tumor thrombus is ob-served in approximately 20% of cases.Differential diagnosis between metastatic liver tumor and HCC is often difficult.Grossly,almost all cases appear as advanced gastric cancer.Histologically,a hepatoid pattern is observed in many cases,in addition to a moderately to poorly differentiated adenocarcinoma component.The production of PIVKA-Ⅱ and AFP is usually confirmed using immunohistochemical staining.Treatment and prognosis largely depends on the existence of liver meta-stasis,and the prognosis of patients with liver metas-tasis is very poor.PIVKA-Ⅱ may be produced during the hepatocellular metaplasia of the tumor cells.展开更多
Congenital bilateral absence of vas deferens （CBAVD） is a manifestation of the mildest form of cystic fibrosis （CF） and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the avail...Congenital bilateral absence of vas deferens （CBAVD） is a manifestation of the mildest form of cystic fibrosis （CF） and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the availability of assisted reproductive technology, CBAVD patients can father children. These fathers are at risk of transmitting a mutated allele of the CF transmembrane conductance regulator （CFTR） gene, responsible for CF, to their offspring. The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier. However, in the majority of CBAVD patients, conventional mutation screening is not able to detect mutations in both CFTR alleles, and this difficulty hampers the execution of correct genetic counselling. To obtain information about the most represented CFTR mutations in CBAVD patients, we analysed 23 CBAVD patients, 15 of whom had a single CFTR mutation after screening for 36 mutations and the 5T allele. The search for the second CFTR mutation in these cases was performed by using a triplex approach： （i） first, a reverse dot-blot analysis was performed to detect mutations with regional impact; （ii） next, multiple ligation-dependent probe amplification assays were conducted to search for large rearrangements; and （iii） finally, denaturing high-performance liquid chromatography was used to search for point mutations in the entire coding region. Using these approaches, the second CFTR mutation was detected in six patients, which increased the final detection rate to 60.8%.展开更多
A novel approach is proposed for improving adaptive feedback cancellation using a variable step-size affine projection algorithm(VSS-APA) based on global speech absence probability(GSAP).The variable step-size of the ...A novel approach is proposed for improving adaptive feedback cancellation using a variable step-size affine projection algorithm(VSS-APA) based on global speech absence probability(GSAP).The variable step-size of the proposed VSS-APA is adjusted according to the GSAP of the current frame.The weight vector of the adaptive filter is updated by the probability of the speech absence.The performance measure of acoustic feedback cancellation is evaluated using normalized misalignment.Experimental results demonstrate that the proposed approach has better performance than the normalized least mean square(NLMS) and the constant step-size affine projection algorithms.展开更多
In this work, a novel voice activity detection （VAD） algorithm that uses speech absence probability （SAP） based on Teager energy （TE） was proposed for speech enhancement. The proposed method employs local SAP （...In this work, a novel voice activity detection （VAD） algorithm that uses speech absence probability （SAP） based on Teager energy （TE） was proposed for speech enhancement. The proposed method employs local SAP （LSAP） based on the TE of noisy speech as a feature parameter for voice activity detection （VAD） in each frequency subband, rather than conventional LSAP. Results show that the TE operator can enhance the abiTity to discriminate speech and noise and further suppress noise components. Therefore, TE-based LSAP provides a better representation of LSAP, resulting in improved VAD for estimating noise power in a speech enhancement algorithm. In addition, the presented method utilizes TE-based global SAP （GSAP） derived in each frame as the weighting parameter for modifying the adopted TE operator and improving its performance. The proposed algorithm was evaluated by objective and subjective quality tests under various environments, and was shown to produce better results than the conventional method.展开更多
An improved speech absence probability estimation was proposed using environmental noise classification for speech enhancement.A relevant noise estimation approach,known as the speech presence uncertainty tracking met...An improved speech absence probability estimation was proposed using environmental noise classification for speech enhancement.A relevant noise estimation approach,known as the speech presence uncertainty tracking method,requires seeking the "a priori" probability of speech absence that is derived by applying microphone input signal and the noise signal based on the estimated value of the "a posteriori" signal-to-noise ratio(SNR).To overcome this problem,first,the optimal values in terms of the perceived speech quality of a variety of noise types are derived.Second,the estimated optimal values are assigned according to the determined noise type which is classified by a real-time noise classification algorithm based on the Gaussian mixture model(GMM).The proposed algorithm estimates the speech absence probability using a noise classification algorithm which is based on GMM to apply the optimal parameter of each noise type,unlike the conventional approach which uses a fixed threshold and smoothing parameter.The performance of the proposed method was evaluated by objective tests,such as the perceptual evaluation of speech quality(PESQ) and composite measure.Performance was then evaluated by a subjective test,namely,mean opinion scores(MOS) under various noise environments.The proposed method show better results than existing methods.展开更多
The effect of steam-treatment to HZSM-5 zeolite and Mo/HZSM-5 with a steaming time range of 0.5-1 h on the catalytic performance of methane dehydro-aromatization （MDA） over Mo/HZSM-5 catalyst prepared with impregnat...The effect of steam-treatment to HZSM-5 zeolite and Mo/HZSM-5 with a steaming time range of 0.5-1 h on the catalytic performance of methane dehydro-aromatization （MDA） over Mo/HZSM-5 catalyst prepared with impregnation has been studied in detail in combination with the characterization of 1H MAS NMR technique. Both the deactivation rate constant （kd） and the Brtnsted acid sites per unit cell were calculated to quantitatively evaluate the stability of Mo/HZSM-5 catalysts treated with steam at 813 K before and after impregnation of molybdenum species, and the corresponding variation of their Brtnsted acid sites. The results reveal that a V-shape relationship between kd and the number of B 1 acid sites per unit cell is presented on Mo/HZSM-5 catalyst under the tested steam-treatment and reaction conditions.展开更多
BACKGROUND： Recent studies have focused on various methods of wavelet transformation for electroencephalogram （EEG） signals. However, there are very few studies reporting characteristics of multi-scale phase waves ...BACKGROUND： Recent studies have focused on various methods of wavelet transformation for electroencephalogram （EEG） signals. However, there are very few studies reporting characteristics of multi-scale phase waves during epileptic discharge.OBJECTIVE： To extract multi-scale phase average waveforms from childhood absence epilepsy EEG signals between time and frequency domains using wavelet transformation, and to compare EEG signals of absence seizure with pre-epileptic seizure and normal children, and to quantify multi-scale phase average waveforms from childhood absence epilepsy EEG signals. DESIGN, TIME AND SETTING： The case-comparative experiment was performed at the Department of Neuroelectrophysiology, Tianjin Medical University from August 2002 to May 2005. PARTICIPANTS： A total of 15 patients with childhood absence epilepsy from the General Hospital of Tianjin Medical University were enrolled in the study. The patients were not administered anti-epileptic drugs or sedatives prior to EEG testing. In addition, 12 healthy, age- and gender-matched children were also enrolled.METHODS： EEG signals were tested on 15 patients with childhood absence epilepsy and 12 normal children. Epileptic discharge signals during clinical and subclinical seizures were collected 10 and 20 times, respectively. The collected EEG signals were treated with wavelet transformation to extract multi-scale characteristics during absence epilepsy seizure using a conditional sampling method. Multi-scale phase average waveforms were collected using a conditional phase averaging technique. Amplitude of phase average waveform from EEG signals of epilepsy seizure, subclinical epileptic discharge, and EEG signals of normal children were compared and statistically analyzed in the first half-cycle.MAIN OUTCOME MEASURES： Multi-scale wavelet coefficient and the evolution of EEG signals were observed during childhood absence epilepsy seizures using wavelet transformation. Multi-scale phase average waveforms from EEG signals were observed using a conditional sampling method and phase averaging technique.RESULTS： Multi-scale characteristics of EEG signals demonstrated that 12-scale （3 Hz） rhythmical activity was significantly enhanced during childhood absence epilepsy seizure and co-existed with background structure （〈1 Hz, low frequency discharge）. The phase average wave exhibited opposed phase abnormal rhythm at 3 Hz. Prior to childhood absence epilepsy seizure, EEG detected opposed abnormal a rhythm and 3 Hz composition, which were not detected with traditional EEG. Compared to EEG signals from normal children, epileptic discharges from clinical and subclinical childhood absence epilepsy seizures were positive and amplitude was significantly greater （P〈0.05）.CONCLUSION： Wavelet transformation was used to analyze EEG signals from childhood absence epilepsy to obtain multi-scale quantitative characteristics and phase average waveforms. Multi-scale wavelet coefficients of EEG signals correlated with childhood absence epilepsy seizure, and multi-scale waveforms prior to epilepsy seizure were similar to characteristics during the onset period. Compared to normal children, EEG signals during epilepsy seizure exhibited an opposed phase model.展开更多
A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of ...A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of the plant.At low temperature,LTIA1 and LTIA2 redundantly affect chlorophyll levels,non-photochemical quenching,photosynthetic quantum yield of PSⅡand seedling growth.LTIA1 and LTIA2 proteins are involved in splicing of atp F and the biogenesis of 16S and 23S rRNA in chloroplasts.Presence/absence variation of LTIA1,the ancestral copy,was found only in japonica but that of LTIA2 in all rice subgroups.Accessions with LTIA2 presence tended to be distributed more remote from the equator compared to those with LTIA2 absence.LTIA2 duplicated from LTIA1 at the early stage of divergence of the AA genome Oryza species but deleted againin O.nivara.In cultivated rice,absence of LTIA2 is derived from O.nivara.LTIA1 absence occurred more recently in japonica.展开更多
Congenital bilateral absence of the vas deferens(CBAVD)is observed in 1%–2%of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator(CFTR)mutations.CFTR i...Congenital bilateral absence of the vas deferens(CBAVD)is observed in 1%–2%of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator(CFTR)mutations.CFTR is one of the most well-known genes related to male fertility.The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia(NOA).CFTR mutations are highly polymorphic and have established ethnic specificity.Compared with F508Del in Caucasians,the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis.However,whether p.G970D participates in male infertility remains unknown.Herein,a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA.Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation(4.1%,5/122),excluding polymorphic sites.Furthermore,we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients.The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells.In spermatocyte GC-2(spd)ts(GC2)Cftr p.G965D cells,RNA splicing variants were detected and CFTR expression decreased,which may contribute to the phenotypes associated with impaired spermatogenesis.Thus,this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.展开更多
AIM:To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi,and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duc...AIM:To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi,and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duct agenesis.METHODS:The members of the three families were recruited.The ophthalmologic examinations in details,including slit-lamp biomicroscope,intraocular pressure and fundus examination,etc.were carried out.All patients were checked with paracentesis of puncta membrane and lacrimal duct probing,as well as the computed tomographydacryocystography(CT-DCG).Peripheral blood of 14 participants(3 normal)from three families were collected,4 mL each,for genomic DNA extraction,and 11 exon fragments of IGSF3 gene were amplified and sequenced by polymerase chain reaction(PCR)to determine whether there were IGSF3 genetic variation.RESULTS:A total of 14 members from three families were screened for 4 synonymous variants:c.930 C>T(p.Pro366=),c.1359 T>C(p.Ser709=),c.1797 G>A(p.Ser855=),c.1539 G>A(p.Ser769=),and 6 missense variants:c.l507 G>A(p.Gly759 Ser),c.1783 T>C(p.Trp851 Arg),c.1952 G>T(p.Ser 907 lle),c.3120 C>G(p.Asp1040 Glu),c.3123 C>G(p.Asp1041 Glu),c.3139_3140 insGAC(p.Asp1046_Pro1047 insAsp),and the latter three were only found in two patients with absence of lacrimal puncta and canaliculi combined with congenital osseous nasolacrimal canal obstruction from the first family.CONCLUSION:The same IGSF3 gene mutation c.31393140 insGAC is found in the patients with congenital absence of lacrimal puncta and canaliculi combine with osseous nasolacrimal canal obstruction.展开更多
BACKGROUND As a rare anomaly,congenital absence of the right coronary artery(RCA)occurs during the development of coronary artery.Patients with congenital absence of the RCA often show no clinical symptoms,and this di...BACKGROUND As a rare anomaly,congenital absence of the right coronary artery(RCA)occurs during the development of coronary artery.Patients with congenital absence of the RCA often show no clinical symptoms,and this disease is considered benign.The left coronary artery gives blood supply to the whole myocardium.The prevalence of congenital absence of the RCA is approximately 0.024%-0.066%.There are few cases reported as for this disease.In this work,a patient,with congenital absence of the RCA diagnosed by coronary angiography(CAG),was described.CASE SUMMARY A 41-year-old man arrived at our hospital for treatment,due to the repeated palpitations for a duration of one year.Considering the possibility of coronary heart disease,the patient underwent CAG that indicated the congenital absence of the RCA.Unfortunately,the patient refused to accept computed tomography coronary angiography(CTCA),to further confirm the congenital absence of the RCA.CONCLUSION Single coronary artery is a rare type of coronary artery abnormality,which usually has no obvious clinical manifestations and is considered as a benign disease.CAG is the main means by which congenital absence of the RCA can be diagnosed,and the disease can also be further confirmed by CTCA.展开更多
Brain aminergic tone was examined in rats with different genetically determined generalized epilepsies and in normal rats. Our previously published database was analyzed to examine if there were functional correlation...Brain aminergic tone was examined in rats with different genetically determined generalized epilepsies and in normal rats. Our previously published database was analyzed to examine if there were functional correlations between brain biogenic amines and their metabolic rates within particular cerebral regions. Rats with genetically determined absence (AbS) and/or audiogenic seizures (AGS) served as models for human generalized non-convulsive and convulsive epilepsies. Tissue concentrations of 5-HT, dopamine (DA) and their main metabolites, as well as tryptophan (TRT), histamine (HA) and noradrenaline (NA) were assayed in different brain regions and analyzed for within-regions correlations in non-stressed conditions. It was found that AbS rats had higher indices of DA-ergic metabolism than non-epileptic controls, but the severity of AbS correlated with a widespread dopaminergic deficiency, as expressed in lowered indices of DA metabolism. AGS exerted no major effects on tissue neurochemistry. Brain DA-ergic and 5HT-ergic metabolic indices (measured as the ratio of the metabolite to the parent transmitter) were closely linked in striatum and pons-medulla of AbS rats. Remarkably, the tissue content of HA in pons-medulla of AbS rats displayed correlations with metabolic ratios of 5HT and DA, which was not seen in normal rats. It is hypothesized that enhanced metabolism of DA and 5HT are at least partial compensatory antiepileptic mechanisms in the brain, and a disturbance of this compensation leads to an aggravation of absence seizures.展开更多
基金supported by the National Natural Science Foundation of China(grant No.82171588)the Fundamental Research Funds for the Central Institutes(grant No.2023GJZD01).
文摘Individuals with congenital absence of the vas deferens(CAVD)may transmit cystic fibrosis(CF)-causing variants of the cystic fibrosis transmembrane conductance regulator(CFTR)gene to their offspring through assisted reproductive technology(ART).We aimed to delineate the spectrum and estimate the prevalence of CF-causing variants in Chinese individuals with CAVD through a cohort analysis and meta-analysis.CFTR was sequenced in 145 Chineseindividuals with CAVD.CFTR variants were classified as CF-causing or non-CF-causing variants regarding clinical significance.A comprehensive genotype analysis was performed in Chinese individuals with CAVD,incorporating previous studies and our study cohort.The prevalence of CF-causing variants was estimated through meta-analysis.In our cohort,56 differentCFTR variants were identified in 108(74.5%)patients.Twenty variants were categorized as CF-causing and were detected in 28(19.3%)patients.A comprehensive genotype analysis of 867 patients identified 174 differentCFTR variants.Sixty-four were classified as CF-causing variants,56.3%of which had not been previously reported in Chinese patients with CF.Meta-analysis showed that 14.8%(95%confidence interval[CI]:11.0%-18.9%)CAVD cases harbored one CF-causing variant,and 68.6%(95%CI:65.1%-72.0%)CAVD cases carried at least one CFTR variant.Our study underscores the urgent need for extensiveCFTR screening,including sequencing of whole exons and flanking regions and detection of large rearrangements and deep intronic CF-causing variants,in Chinese individuals with CAVDbefore undergoing ART.The established CF-causing variants spectrum may aid in the development of genetic counseling strategies and preimplantation diagnosis to prevent the birth of a child with CF.
基金supported by National Natural Science Foundation of China(Nos.61201395,61272394,61472119 and 61472373)the program for Science & Technology Innovation Talents in Universities of Henan Province(No.13HASTIT039)the Program for Young Backbone Teachers in Universities of Henan Province(Nos.2012GGJS-057 and 2013GGJS-052)
文摘Feature detection and matching play important roles in many fields of computer vision, such as image understanding, feature recognition, 3D-reconstruction, video analysis, etc. Extracting features is usually the first step for feature detection or matching, and the gradient feature is one of the most used selections. In this paper, a new image feature-absence importance （AI） feature, which can directly characterize the local structure information, is proposed. Greatly different from the most existing features, the proposed absence importance feature is mainly based on the consideration that the absence of the important pixel will have a great effect on the local structure. Two absence importance features, mean absence importance （MAI） and standard deviation absence importance （SDAI）, are defined and used subsequently to construct new algorithms for feature detection and matching. Experiments demonstrate that the proposed absence importance features can be used as an important complement of the gradient feature and applied successfully to the fields of feature detection and matching.
基金supported by the National Key Research and Developmental Program of China(No.2018YFC1003403 and No.2018YFC1004700)the National Natural Science Foundation of China(No.32070850 and No.31771668).
文摘Cystic fibrosis(CF)is one of the most common recessive genetic diseases,with a wide spectrum of phenotypes,ranging from infertility to severe pulmonary disease.Mutations in the cystic fibrosis transmembrane conductance regulator(CFTR)gene are considered the main genetic cause for CF.In this study,we recruited a consanguineous Iranian pedigree with four male patients diagnosed with congenital unilateral absence of the vas deferens(CUAVD),and one female patient diagnosed with congenital absence of the uterus(CAU).Testicular biopsy of one patient was performed,and hematoxylin and eosin(H and E)staining of testis sections displayed the presence of germ cell types ranging from spermatogonia to mature spermatids,indicating obstructive azoospermia.To explore the underlying genetic factor in this familial disorder,we therefore performed whole-exome sequencing(WES)on all available family members.WES data filtration and CFTR haplotype analysis identified compound heterozygous mutations in CFTR among four patients(two CUAVD patients carried p.H949Y and p.L997F,and one CUAVD and the female CAU patient carried p.H949Y and p.I148T).All these mutations were predicted to be deleterious by at least half of the prediction software programs and were confirmed by Sanger sequencing.Our study reported that CFTR compound heterozygous mutations in a consanguineous Iranian family cause infertility in both sexes.
文摘BACKGROUND Researchers have investigated the diagnostic value of protein induced by vitamin K absence or antagonist II (PIVKA-II) and alpha-fetoprotein (AFP) in hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC), and obtained abundant clinical diagnostic data. However, PIVKA-II and AFP have unsatisfactory specificity and sensitivity in the diagnosis of early-stage HBV-related HCC. Gamma-glutamyltransferase (γ-GT) and aspartate aminotransferase (AST) are common biomarkers for evaluating liver function, and we hypothesized that the γ-GT/AST ratio in combination with PIVKA-II and AFP would improve the diagnosis of early-stage HBV-related HCC. AIM To evaluate the diagnostic value of γ-GT/AST ratio alone or in combination with PIVKA-II and AFP in HBV-related HCC. METHODS Serum levels of γ-GT, AST, PIVKA-II, and AFP were detected and analysed in 176 patients with HBV-related HCC and in 359 patients with chronic hepatitis B. According to tumour size and serum level of HBV DNA, HBV-related HCC patients were divided into the following categories: Early-stage HCC patients, HCC patients, HBV DNA positive (HBV DNA+) HCC patients, and HBV DNA negative (HBV DNA-) HCC patients. Receiver-operating characteristic (ROC) curves were used to analyse and compare the diagnostic value of the single and combined detection of various biomarkers in different types of HBV-related HCC. RESULTS Tumour size was positively correlated with serum levels of PIVKA-II and AFP in HCC patients (r = 0.529, aP < 0.001 and r = 0.270, bP < 0.001, respectively), but there was no correlation between tumour size and the γ-GT/AST ratio (r = 0.073, P = 0.336). The areas under the receiver-operating characteristic curves (AUROCs) of the γ-GT/AST ratio in early-stage HCC patients, HBV DNA+ HCC patients and HBV DNA- HCC patients were not significantly different from that in the total HCC patients (0.754, 0.802, and 0.705 vs 0.779, respectively;P > 0.05). When PIVKA-II was combined with the γ-GT/AST ratio in the diagnosis of earlystage HCC, HCC, and HBV DNA+ HCC, the AUROCs of PIVKA-II increased, with values of 0.857 vs 0.835, 0.925 vs 0.913, and 0.958 vs 0.954, respectively. When AFP was combined with the γ-GT/AST ratio in the diagnosis of early-stage HCC, HCC, HBV DNA+ HCC, and HBV DNA- HCC, the AUROCs of AFP increased, with values of 0.757 vs 0.621, 0.837 vs 0.744, 0.868 vs 0.757, and 0.840 vs 0.828, respectively. CONCLUSION The γ-GT/AST ratio may be better than PIVKA-II and AFP in the diagnosis of early-stage HBV-related HCC, and its combination with PIVKA-II and AFP can improve the diagnostic value for HBV-related HCC.
基金supported in part by the National Natural Sci-ence Foundation of China(81472284 and 81672699)Shanghai Pujiang Program(16PJD004)
文摘Background: As a promising biomarker of hepatocellular carcinoma(HCC), protein induced by vitamin K absence or antagonist-Ⅱ(PIVKA-Ⅱ) has been studied extensively. However, its diagnostic capability varies across HCC studies. This study aimed to compare the performance of PIVKA-Ⅱ with alpha-fetoprotein(AFP) in the diagnosis of HCC. Data sources: A systematic literature search was conducted to identify the studies from MEDLINE, Embase and Cochrane Library Databases, which were published up to December 20, 2017 to compare the diagnostic capability of PIVKA-Ⅱ and AFP for HCC. The data were pooled using random effects model. Pooled sensitivity and specificity were calculated. Summary receiver operating characteristic curve(ROC) was employed to evaluate the diagnostic accuracy of each marker. Results: Thirty-one studies were included. The pooled sensitivity(95% CI) of PIVKA-Ⅱ and AFP was 0.66(0.65–0.68) and 0.66(0.65–0.67), respectively in diagnosis of HCC; and the corresponding pooled specificity(95% CI) was 0.89(0.88–0.90) and 0.84(0.83–0.85), respectively. The area under the ROC curve(AUC) of PIVKA-Ⅱ and AFP was 0.856(0.817–0.895) and 0.770(0.728–0.811), respectively. Subgroup analysis showed that PIVKA-Ⅱ was superior to AFP in terms of the AUC for both small HCC( < 3 cm) [0.863(0.825–0.901) vs 0.717(0.658–0.776)] and large HCC( ≥ 3 cm) [0.854(0.811–0.897) vs 0.729(0.682–0.776)]; for American [0.926(0.897–0.955) vs 0.698(0.594–0.662)], European [0.772(0.743–0.801) vs 0.628(0.594–0.662)], Asian [0.838(0.812–0.864) vs 0.785(0.764–0.806)] and African [0.812(0.794–0.840) vs 0.721(0.675–0.767)] HCC patients; and for HBV-related [0.909(0.866–0.951) vs 0.714(0.673–0.755)] and mixed-etiology [0.847(0.821–0.873) vs 0.794(0.772–0.816)] HCC. Conclusion: This meta-analysis indicates that PIVKA-Ⅱ is better than AFP in terms of the accuracy for diagnosing HCC, regardless of tumor size, patient ethnic group, or HCC etiology.
文摘Congenital absence of portal vein （CAPV） was a rare event in the past. However, the number of detected CAPV cases has increased in recent years because of advances in imaging techniques. Patients with CAPV present with portal hypertension （PH） or portosystemic encephalopathy （PSE）, but these conditions rarely occur until the patients grow up or become old. The patients usually visit doctors for the complications of venous shunts, hepatic or cardiac abnormalities detected by ultrasonography （US）, computed tomography （CT） and magnetic resonance imaging （MR1）. The etiology of this disease is not clear, but most investigators consider that it is associated with abnormal embryologic development of the portal vein. Usually, surgical intervention can relieve the symptoms and prevent occurrence of complications in CAPV patients. Moreover, its management should be stressed on a case-by-case basis, depending on the type or anatomy of the disease, as well as the symptoms and clinical conditions of the patient.
文摘Congenital bilateral absence of the vas deferens （CBAVD） is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator （CFTR） gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis （CF） frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR （TG）m（T）n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F5OSdel mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients （97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T）. Moreover, a statistically significant relationship between TG 12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.
基金Project supported by the National Natural Science Foundation of China(Nos.11702018,11932003,and 11672074)。
文摘Presently,we develop a simplified corticothalamic(SCT)model and propose a single-pulse alternately resetting stimulation(SARS)with sequentially applying anodic(A,“+”)or cathodic(C,“−”)phase pulses to the thalamic reticular(RE)nuclei,thalamus-cortex(TC)relay nuclei,and cortical excitatory(EX)neurons,respectively.Abatement effects of ACC-SARS of RE,TC,and EX for the 2 Hz-4 Hz spike and wave discharges(SWD)of absence seizures are then concerned.The m∶n on-off ACC-SARS protocol is shown to effectively reduce the SWD with the least current consumption.In particular,when its frequency is out of the 2 Hz-4 Hz SWD dominant rhythm,the desired seizure abatements can be obtained,which can be further improved by our proposed directional steering(DS)stimulation.The dynamical explanations for the SARS induced seizure abatements are lastly given by calculating the averaged mean firing rate(AMFR)of neurons and triggering averaged mean firing rates(TAMFRs)of 2 Hz-4 Hz SWD.
文摘Protein induced by vitamin K absence or antagonist Ⅱ(PIVKA-Ⅱ) is a putative specific marker of hepatocellular carcinoma(HCC),but it may also be produced by asmall number of gastric cancers.To date,16 cases of PIVKA-Ⅱ-producing gastric cancer have been reported,2 of which were reported by us and all of which were identified in Japan.There are no symptoms specific to PIVKA-Ⅱ-producing gastric cancer,and the representative clinical symptoms are general fatigue,appetite loss,and upper abdominal pain.Serum alpha-feto-protein(AFP)levels are also increased in almost allcases.Liver metastasis is observed in approximately 80% of cases and portal vein tumor thrombus is ob-served in approximately 20% of cases.Differential diagnosis between metastatic liver tumor and HCC is often difficult.Grossly,almost all cases appear as advanced gastric cancer.Histologically,a hepatoid pattern is observed in many cases,in addition to a moderately to poorly differentiated adenocarcinoma component.The production of PIVKA-Ⅱ and AFP is usually confirmed using immunohistochemical staining.Treatment and prognosis largely depends on the existence of liver meta-stasis,and the prognosis of patients with liver metas-tasis is very poor.PIVKA-Ⅱ may be produced during the hepatocellular metaplasia of the tumor cells.
文摘Congenital bilateral absence of vas deferens （CBAVD） is a manifestation of the mildest form of cystic fibrosis （CF） and is characterized by obstructive azoospermia in otherwise healthy patients. Owing to the availability of assisted reproductive technology, CBAVD patients can father children. These fathers are at risk of transmitting a mutated allele of the CF transmembrane conductance regulator （CFTR） gene, responsible for CF, to their offspring. The identification of mutations in both CFTR alleles in CBAVD patients is a crucial requirement for calculating the risk of producing a child with full-blown CF if the female partner is a healthy CF carrier. However, in the majority of CBAVD patients, conventional mutation screening is not able to detect mutations in both CFTR alleles, and this difficulty hampers the execution of correct genetic counselling. To obtain information about the most represented CFTR mutations in CBAVD patients, we analysed 23 CBAVD patients, 15 of whom had a single CFTR mutation after screening for 36 mutations and the 5T allele. The search for the second CFTR mutation in these cases was performed by using a triplex approach： （i） first, a reverse dot-blot analysis was performed to detect mutations with regional impact; （ii） next, multiple ligation-dependent probe amplification assays were conducted to search for large rearrangements; and （iii） finally, denaturing high-performance liquid chromatography was used to search for point mutations in the entire coding region. Using these approaches, the second CFTR mutation was detected in six patients, which increased the final detection rate to 60.8%.
基金Project(2010-0020163)supported by Basic Science Research Program through the National Research Foundation of Korea(NRF)funded by the Ministry of Education
文摘A novel approach is proposed for improving adaptive feedback cancellation using a variable step-size affine projection algorithm(VSS-APA) based on global speech absence probability(GSAP).The variable step-size of the proposed VSS-APA is adjusted according to the GSAP of the current frame.The weight vector of the adaptive filter is updated by the probability of the speech absence.The performance measure of acoustic feedback cancellation is evaluated using normalized misalignment.Experimental results demonstrate that the proposed approach has better performance than the normalized least mean square(NLMS) and the constant step-size affine projection algorithms.
基金Project supported by Inha University Research GrantProject(10031764) supported by the Strategic Technology Development Program of Ministry of Knowledge Economy, Korea
文摘In this work, a novel voice activity detection （VAD） algorithm that uses speech absence probability （SAP） based on Teager energy （TE） was proposed for speech enhancement. The proposed method employs local SAP （LSAP） based on the TE of noisy speech as a feature parameter for voice activity detection （VAD） in each frequency subband, rather than conventional LSAP. Results show that the TE operator can enhance the abiTity to discriminate speech and noise and further suppress noise components. Therefore, TE-based LSAP provides a better representation of LSAP, resulting in improved VAD for estimating noise power in a speech enhancement algorithm. In addition, the presented method utilizes TE-based global SAP （GSAP） derived in each frame as the weighting parameter for modifying the adopted TE operator and improving its performance. The proposed algorithm was evaluated by objective and subjective quality tests under various environments, and was shown to produce better results than the conventional method.
基金Project supported by an Inha University Research GrantProject(10031764) supported by the Strategic Technology Development Program of Ministry of Knowledge Economy,Korea
文摘An improved speech absence probability estimation was proposed using environmental noise classification for speech enhancement.A relevant noise estimation approach,known as the speech presence uncertainty tracking method,requires seeking the "a priori" probability of speech absence that is derived by applying microphone input signal and the noise signal based on the estimated value of the "a posteriori" signal-to-noise ratio(SNR).To overcome this problem,first,the optimal values in terms of the perceived speech quality of a variety of noise types are derived.Second,the estimated optimal values are assigned according to the determined noise type which is classified by a real-time noise classification algorithm based on the Gaussian mixture model(GMM).The proposed algorithm estimates the speech absence probability using a noise classification algorithm which is based on GMM to apply the optimal parameter of each noise type,unlike the conventional approach which uses a fixed threshold and smoothing parameter.The performance of the proposed method was evaluated by objective tests,such as the perceptual evaluation of speech quality(PESQ) and composite measure.Performance was then evaluated by a subjective test,namely,mean opinion scores(MOS) under various noise environments.The proposed method show better results than existing methods.
基金supported by Foundation for University Key Teacher by the Education of Heilongjiang Province(No.1152G018)
文摘The effect of steam-treatment to HZSM-5 zeolite and Mo/HZSM-5 with a steaming time range of 0.5-1 h on the catalytic performance of methane dehydro-aromatization （MDA） over Mo/HZSM-5 catalyst prepared with impregnation has been studied in detail in combination with the characterization of 1H MAS NMR technique. Both the deactivation rate constant （kd） and the Brtnsted acid sites per unit cell were calculated to quantitatively evaluate the stability of Mo/HZSM-5 catalysts treated with steam at 813 K before and after impregnation of molybdenum species, and the corresponding variation of their Brtnsted acid sites. The results reveal that a V-shape relationship between kd and the number of B 1 acid sites per unit cell is presented on Mo/HZSM-5 catalyst under the tested steam-treatment and reaction conditions.
基金the National Natural Science Foundation of China,No. 60703045
文摘BACKGROUND： Recent studies have focused on various methods of wavelet transformation for electroencephalogram （EEG） signals. However, there are very few studies reporting characteristics of multi-scale phase waves during epileptic discharge.OBJECTIVE： To extract multi-scale phase average waveforms from childhood absence epilepsy EEG signals between time and frequency domains using wavelet transformation, and to compare EEG signals of absence seizure with pre-epileptic seizure and normal children, and to quantify multi-scale phase average waveforms from childhood absence epilepsy EEG signals. DESIGN, TIME AND SETTING： The case-comparative experiment was performed at the Department of Neuroelectrophysiology, Tianjin Medical University from August 2002 to May 2005. PARTICIPANTS： A total of 15 patients with childhood absence epilepsy from the General Hospital of Tianjin Medical University were enrolled in the study. The patients were not administered anti-epileptic drugs or sedatives prior to EEG testing. In addition, 12 healthy, age- and gender-matched children were also enrolled.METHODS： EEG signals were tested on 15 patients with childhood absence epilepsy and 12 normal children. Epileptic discharge signals during clinical and subclinical seizures were collected 10 and 20 times, respectively. The collected EEG signals were treated with wavelet transformation to extract multi-scale characteristics during absence epilepsy seizure using a conditional sampling method. Multi-scale phase average waveforms were collected using a conditional phase averaging technique. Amplitude of phase average waveform from EEG signals of epilepsy seizure, subclinical epileptic discharge, and EEG signals of normal children were compared and statistically analyzed in the first half-cycle.MAIN OUTCOME MEASURES： Multi-scale wavelet coefficient and the evolution of EEG signals were observed during childhood absence epilepsy seizures using wavelet transformation. Multi-scale phase average waveforms from EEG signals were observed using a conditional sampling method and phase averaging technique.RESULTS： Multi-scale characteristics of EEG signals demonstrated that 12-scale （3 Hz） rhythmical activity was significantly enhanced during childhood absence epilepsy seizure and co-existed with background structure （〈1 Hz, low frequency discharge）. The phase average wave exhibited opposed phase abnormal rhythm at 3 Hz. Prior to childhood absence epilepsy seizure, EEG detected opposed abnormal a rhythm and 3 Hz composition, which were not detected with traditional EEG. Compared to EEG signals from normal children, epileptic discharges from clinical and subclinical childhood absence epilepsy seizures were positive and amplitude was significantly greater （P〈0.05）.CONCLUSION： Wavelet transformation was used to analyze EEG signals from childhood absence epilepsy to obtain multi-scale quantitative characteristics and phase average waveforms. Multi-scale wavelet coefficients of EEG signals correlated with childhood absence epilepsy seizure, and multi-scale waveforms prior to epilepsy seizure were similar to characteristics during the onset period. Compared to normal children, EEG signals during epilepsy seizure exhibited an opposed phase model.
基金supported by Zhejiang Provincial Natural Science Foundation of China (LD24C130002)Scientific Research Foundation of China Jiliang University。
文摘A rice low temperature-induced albino variant was determined by the recessive ltia1 and ltia2 genes.LTIA1 and LTIA2 encode highly conserved mini-ribonucleasesⅢlocated in chloroplasts and expressed in aerial parts of the plant.At low temperature,LTIA1 and LTIA2 redundantly affect chlorophyll levels,non-photochemical quenching,photosynthetic quantum yield of PSⅡand seedling growth.LTIA1 and LTIA2 proteins are involved in splicing of atp F and the biogenesis of 16S and 23S rRNA in chloroplasts.Presence/absence variation of LTIA1,the ancestral copy,was found only in japonica but that of LTIA2 in all rice subgroups.Accessions with LTIA2 presence tended to be distributed more remote from the equator compared to those with LTIA2 absence.LTIA2 duplicated from LTIA1 at the early stage of divergence of the AA genome Oryza species but deleted againin O.nivara.In cultivated rice,absence of LTIA2 is derived from O.nivara.LTIA1 absence occurred more recently in japonica.
基金support from the National Key Research and Developmental Program of China (No.2018YFC1003603)the National Natural Science Foundation of China (No.81971445).
文摘Congenital bilateral absence of the vas deferens(CBAVD)is observed in 1%–2%of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator(CFTR)mutations.CFTR is one of the most well-known genes related to male fertility.The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia(NOA).CFTR mutations are highly polymorphic and have established ethnic specificity.Compared with F508Del in Caucasians,the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis.However,whether p.G970D participates in male infertility remains unknown.Herein,a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA.Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation(4.1%,5/122),excluding polymorphic sites.Furthermore,we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients.The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells.In spermatocyte GC-2(spd)ts(GC2)Cftr p.G965D cells,RNA splicing variants were detected and CFTR expression decreased,which may contribute to the phenotypes associated with impaired spermatogenesis.Thus,this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.
基金Supported by High-Level Talents Training Foundation of the Armed Police Force(No.GCCRC-02)。
文摘AIM:To investigate the variation of IGSF3 gene in three families with congenital absence of lacrimal puncta and canaliculi,and to lay a foundation for further research on the pathogenic gene of congenital lacrimal duct agenesis.METHODS:The members of the three families were recruited.The ophthalmologic examinations in details,including slit-lamp biomicroscope,intraocular pressure and fundus examination,etc.were carried out.All patients were checked with paracentesis of puncta membrane and lacrimal duct probing,as well as the computed tomographydacryocystography(CT-DCG).Peripheral blood of 14 participants(3 normal)from three families were collected,4 mL each,for genomic DNA extraction,and 11 exon fragments of IGSF3 gene were amplified and sequenced by polymerase chain reaction(PCR)to determine whether there were IGSF3 genetic variation.RESULTS:A total of 14 members from three families were screened for 4 synonymous variants:c.930 C>T(p.Pro366=),c.1359 T>C(p.Ser709=),c.1797 G>A(p.Ser855=),c.1539 G>A(p.Ser769=),and 6 missense variants:c.l507 G>A(p.Gly759 Ser),c.1783 T>C(p.Trp851 Arg),c.1952 G>T(p.Ser 907 lle),c.3120 C>G(p.Asp1040 Glu),c.3123 C>G(p.Asp1041 Glu),c.3139_3140 insGAC(p.Asp1046_Pro1047 insAsp),and the latter three were only found in two patients with absence of lacrimal puncta and canaliculi combined with congenital osseous nasolacrimal canal obstruction from the first family.CONCLUSION:The same IGSF3 gene mutation c.31393140 insGAC is found in the patients with congenital absence of lacrimal puncta and canaliculi combine with osseous nasolacrimal canal obstruction.
文摘BACKGROUND As a rare anomaly,congenital absence of the right coronary artery(RCA)occurs during the development of coronary artery.Patients with congenital absence of the RCA often show no clinical symptoms,and this disease is considered benign.The left coronary artery gives blood supply to the whole myocardium.The prevalence of congenital absence of the RCA is approximately 0.024%-0.066%.There are few cases reported as for this disease.In this work,a patient,with congenital absence of the RCA diagnosed by coronary angiography(CAG),was described.CASE SUMMARY A 41-year-old man arrived at our hospital for treatment,due to the repeated palpitations for a duration of one year.Considering the possibility of coronary heart disease,the patient underwent CAG that indicated the congenital absence of the RCA.Unfortunately,the patient refused to accept computed tomography coronary angiography(CTCA),to further confirm the congenital absence of the RCA.CONCLUSION Single coronary artery is a rare type of coronary artery abnormality,which usually has no obvious clinical manifestations and is considered as a benign disease.CAG is the main means by which congenital absence of the RCA can be diagnosed,and the disease can also be further confirmed by CTCA.
文摘Brain aminergic tone was examined in rats with different genetically determined generalized epilepsies and in normal rats. Our previously published database was analyzed to examine if there were functional correlations between brain biogenic amines and their metabolic rates within particular cerebral regions. Rats with genetically determined absence (AbS) and/or audiogenic seizures (AGS) served as models for human generalized non-convulsive and convulsive epilepsies. Tissue concentrations of 5-HT, dopamine (DA) and their main metabolites, as well as tryptophan (TRT), histamine (HA) and noradrenaline (NA) were assayed in different brain regions and analyzed for within-regions correlations in non-stressed conditions. It was found that AbS rats had higher indices of DA-ergic metabolism than non-epileptic controls, but the severity of AbS correlated with a widespread dopaminergic deficiency, as expressed in lowered indices of DA metabolism. AGS exerted no major effects on tissue neurochemistry. Brain DA-ergic and 5HT-ergic metabolic indices (measured as the ratio of the metabolite to the parent transmitter) were closely linked in striatum and pons-medulla of AbS rats. Remarkably, the tissue content of HA in pons-medulla of AbS rats displayed correlations with metabolic ratios of 5HT and DA, which was not seen in normal rats. It is hypothesized that enhanced metabolism of DA and 5HT are at least partial compensatory antiepileptic mechanisms in the brain, and a disturbance of this compensation leads to an aggravation of absence seizures.
