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
Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-lov...Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-love absence on individual loneliness are not clear.Based on the social functionalist theory and the social needs theory,this study examines the influence of individual fatherlove absence on loneliness and its underlying mechanisms.A questionnaire survey was administered to 319 junior high school students and 1,476 high school students.The results showed that adolescents with father-love absence had higher levels of loneliness,and that father-love absence affected loneliness levels through mediating pathways of individual gratitude,peer relationships,and gratitude to peer relationships.This study not only confirms the negative effects of father-love absence on adolescents’loneliness,but also explains the mediate roles of individual gratitude and peer relationships.It enriches the theoretical system related to family education and has important theoretical and practical implications for further interventions on adolescents’mental health from the perspective of fatherless parenting.展开更多
Background:Congenital absence of pericardium(CAP),also known as pericardial agenesis,represents an uncommon cardiac abnormality and mostly incidental finding.It can be subdivided into complete and partial(left or righ...Background:Congenital absence of pericardium(CAP),also known as pericardial agenesis,represents an uncommon cardiac abnormality and mostly incidental finding.It can be subdivided into complete and partial(left or right-sided)forms.Because of its infrequency,just case reports and a few case series have been released so far.This paper represents the largest systematic review in the field.Nine features(age at diagnosis,type,gender,clinical presentation,electrocardiography,imaging(ultrasounds,CT/MRI),concomitant cardiac defects,and outcome)were analysed.Methods:The electronic database PubMed was investigated from its establishment up to July 15th,2023.Just case reports and case series were included.Animal studies,papers that were not in English,Spanish,and Italian,and those manuscripts not reporting at least seven of the nine analysed features.were ruled out.The analysed data were reported mostly in terms of percentage.Results:One hundred eighty studies were included encompassing 247 patients.More than half of reviewed CAP cases were in males(63.2%).The mean age at diagnosis was 31.8±19.3 years;a range of 32 weeks of gestation-81 years).23.5%of the patients did not report any symptoms.The most common clinical presentations were chest pain(35.2%)and dyspnoea(29.2%).The most commonly seen ECG changes were right axis deviation(28.7%)and right bundle branch block(23.9%).CAP was suspected or diagnosed by echocardiography in 20.1%of cases.The diagnosis was made by CT and/or MRI in 61.9%of cases.CAP was left-sided in 71.2%,complete in 23.1%,and right-sided in 5.7%.A concomitant congenital heart defect was found in 22.7%,especially in the form of atrial septal defect(6.5%)and patency of ductus arteriosus(2.8%).The pericardial repair was required in 12.9% of the incomplete forms of the disease.Never did the complete form require surgical correction.The outcome appeared favourable in the vast majority of cases,with just 18 deaths(7.3%).Discussion:The main limitation of this systematic review is that it is based just on case reports and case series,due to the lack of large studies on CAP.However,it represents the largest analysis in the field.Due to the rarity of CAP establishing an International Registry is recommended.展开更多
BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical pres...BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical presentation involving watery diarrhea and multiple ulcers in the duodenum.Here,we have presented the rare case of a patient with ZES and absence of hypergastrinemia as well as an atypical location of gastrinoma.CASE SUMMARY A 72-year-old woman presented with the typical clinical manifestations of ZES,including upper abdominal pain,significant watery diarrhea,and acidic liquid vomitus.Surprisingly,however,she did not have an increased level of serum gastrin.In addition,there was no evidence of gastrinoma or any other ulcerogenic tumor.Esophagogastroduodenoscopy was conducted to examine the upper digestive tract.Revised diagnoses were considered,and an individualized treatment plan was developed.The patient responded to antacid medication while experiencing intermittent,recurring bouts of ZES.18F-AlF-NOTAoctreotide positron emission tomography(18F-OC PET)/computed tomography(CT)helped locate the tumor.Postoperative pathology and immunohistochemistry results suggested that the tumor was a gastrinoma located at an unconventional site.CONCLUSION This present case study demonstrates the possibility of ZES-like manifestation in patients with absence of hypergastrinemia.18F-OC PET/CT is a relatively new imaging technique that can be applied for diagnosing even tiny gastrinomas that are atypical in terms of location.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
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
Cholecystectomy is the most common digestive tract surgery performed worldwide and injury to the bile duct leads to both acute and chronic sequelae. The incidence of bile duct injury is increased in the presence of se...Cholecystectomy is the most common digestive tract surgery performed worldwide and injury to the bile duct leads to both acute and chronic sequelae. The incidence of bile duct injury is increased in the presence of severe inflammation and is compounded by congenital abnormalities of the biliary tract. Congenitally absent cystic duct is one such rare anomaly with significant surgical implications. So far only nine clear cases of congenitally absent cystic duct have been reported. In this report we describe two additional cases of a congenitally absent cystic duct and provide a comprehensive discussion of the clinical significance, and appropriate surgical management of this anomaly.展开更多
Faced with a socio-political-mediatic arena that continues to return the ballet of pandemic,climate change,fourth industrial revolution,sixth mass extinction,war etc.,the reflection of Michel Serres and Posthumanism p...Faced with a socio-political-mediatic arena that continues to return the ballet of pandemic,climate change,fourth industrial revolution,sixth mass extinction,war etc.,the reflection of Michel Serres and Posthumanism put forth instances for silencing of the anthropocentric logos,and for recognition of the multiplicity,variety,possibility of things and of the human in co-belonging with them,as well as instances for working on these same multiplicities,varieties,possibilities,that are often absences,black holes,repressed of philosophical thought.展开更多
ACCORDING to the commission of InternationalLeague Against Epilepsy (ILAE) in 1989, typicalabsence seizures are generalized seizures,characterized by transient impairment of consciousness(TIC) and generalized >2.5 ...ACCORDING to the commission of InternationalLeague Against Epilepsy (ILAE) in 1989, typicalabsence seizures are generalized seizures,characterized by transient impairment of consciousness(TIC) and generalized >2.5 Hz spike and slowwave discharges in ictal EEG.1 Absence seizures with focalonset have been reported occasionally, such as frontal,temporal or parieto-occipital origin.2-3 Lagae et al 4 identified asubgroup of children with absence epilepsy as frontalabsence, whose ictal electroencephalograms (EEGs) showedgeneralized spike and slow wave preceded by frontaldischarge. We presented four cases of frontal absence,with one case of frontal absence status epilepticus in them.The differences between typical and frontal absenceseizures in clinical context and EEG were discussed.展开更多
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the General Program of the National Socail Science Fund of China(23BSH144).
文摘Fathers play an important role in adolescents’development,which is significant for their development and influences their mental health,including feeling of loneliness.However,the effects and mechanisms of father-love absence on individual loneliness are not clear.Based on the social functionalist theory and the social needs theory,this study examines the influence of individual fatherlove absence on loneliness and its underlying mechanisms.A questionnaire survey was administered to 319 junior high school students and 1,476 high school students.The results showed that adolescents with father-love absence had higher levels of loneliness,and that father-love absence affected loneliness levels through mediating pathways of individual gratitude,peer relationships,and gratitude to peer relationships.This study not only confirms the negative effects of father-love absence on adolescents’loneliness,but also explains the mediate roles of individual gratitude and peer relationships.It enriches the theoretical system related to family education and has important theoretical and practical implications for further interventions on adolescents’mental health from the perspective of fatherless parenting.
文摘Background:Congenital absence of pericardium(CAP),also known as pericardial agenesis,represents an uncommon cardiac abnormality and mostly incidental finding.It can be subdivided into complete and partial(left or right-sided)forms.Because of its infrequency,just case reports and a few case series have been released so far.This paper represents the largest systematic review in the field.Nine features(age at diagnosis,type,gender,clinical presentation,electrocardiography,imaging(ultrasounds,CT/MRI),concomitant cardiac defects,and outcome)were analysed.Methods:The electronic database PubMed was investigated from its establishment up to July 15th,2023.Just case reports and case series were included.Animal studies,papers that were not in English,Spanish,and Italian,and those manuscripts not reporting at least seven of the nine analysed features.were ruled out.The analysed data were reported mostly in terms of percentage.Results:One hundred eighty studies were included encompassing 247 patients.More than half of reviewed CAP cases were in males(63.2%).The mean age at diagnosis was 31.8±19.3 years;a range of 32 weeks of gestation-81 years).23.5%of the patients did not report any symptoms.The most common clinical presentations were chest pain(35.2%)and dyspnoea(29.2%).The most commonly seen ECG changes were right axis deviation(28.7%)and right bundle branch block(23.9%).CAP was suspected or diagnosed by echocardiography in 20.1%of cases.The diagnosis was made by CT and/or MRI in 61.9%of cases.CAP was left-sided in 71.2%,complete in 23.1%,and right-sided in 5.7%.A concomitant congenital heart defect was found in 22.7%,especially in the form of atrial septal defect(6.5%)and patency of ductus arteriosus(2.8%).The pericardial repair was required in 12.9% of the incomplete forms of the disease.Never did the complete form require surgical correction.The outcome appeared favourable in the vast majority of cases,with just 18 deaths(7.3%).Discussion:The main limitation of this systematic review is that it is based just on case reports and case series,due to the lack of large studies on CAP.However,it represents the largest analysis in the field.Due to the rarity of CAP establishing an International Registry is recommended.
基金National Natural Science Foundation of China,No.82100612Zhejiang Medical Health Science and Technology Plan Project,No.2021KY1116。
文摘BACKGROUND Zollinger–Ellison syndrome(ZES)results from hypersecretion of gastrin from pancreatic or duodenal neuroendocrine tumors,commonly referred to as gastrinomas.The high levels of gastrin lead to a typical presentation involving watery diarrhea and multiple ulcers in the duodenum.Here,we have presented the rare case of a patient with ZES and absence of hypergastrinemia as well as an atypical location of gastrinoma.CASE SUMMARY A 72-year-old woman presented with the typical clinical manifestations of ZES,including upper abdominal pain,significant watery diarrhea,and acidic liquid vomitus.Surprisingly,however,she did not have an increased level of serum gastrin.In addition,there was no evidence of gastrinoma or any other ulcerogenic tumor.Esophagogastroduodenoscopy was conducted to examine the upper digestive tract.Revised diagnoses were considered,and an individualized treatment plan was developed.The patient responded to antacid medication while experiencing intermittent,recurring bouts of ZES.18F-AlF-NOTAoctreotide positron emission tomography(18F-OC PET)/computed tomography(CT)helped locate the tumor.Postoperative pathology and immunohistochemistry results suggested that the tumor was a gastrinoma located at an unconventional site.CONCLUSION This present case study demonstrates the possibility of ZES-like manifestation in patients with absence of hypergastrinemia.18F-OC PET/CT is a relatively new imaging technique that can be applied for diagnosing even tiny gastrinomas that are atypical in terms of location.
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 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Cholecystectomy is the most common digestive tract surgery performed worldwide and injury to the bile duct leads to both acute and chronic sequelae. The incidence of bile duct injury is increased in the presence of severe inflammation and is compounded by congenital abnormalities of the biliary tract. Congenitally absent cystic duct is one such rare anomaly with significant surgical implications. So far only nine clear cases of congenitally absent cystic duct have been reported. In this report we describe two additional cases of a congenitally absent cystic duct and provide a comprehensive discussion of the clinical significance, and appropriate surgical management of this anomaly.
文摘Faced with a socio-political-mediatic arena that continues to return the ballet of pandemic,climate change,fourth industrial revolution,sixth mass extinction,war etc.,the reflection of Michel Serres and Posthumanism put forth instances for silencing of the anthropocentric logos,and for recognition of the multiplicity,variety,possibility of things and of the human in co-belonging with them,as well as instances for working on these same multiplicities,varieties,possibilities,that are often absences,black holes,repressed of philosophical thought.
文摘ACCORDING to the commission of InternationalLeague Against Epilepsy (ILAE) in 1989, typicalabsence seizures are generalized seizures,characterized by transient impairment of consciousness(TIC) and generalized >2.5 Hz spike and slowwave discharges in ictal EEG.1 Absence seizures with focalonset have been reported occasionally, such as frontal,temporal or parieto-occipital origin.2-3 Lagae et al 4 identified asubgroup of children with absence epilepsy as frontalabsence, whose ictal electroencephalograms (EEGs) showedgeneralized spike and slow wave preceded by frontaldischarge. We presented four cases of frontal absence,with one case of frontal absence status epilepticus in them.The differences between typical and frontal absenceseizures in clinical context and EEG were discussed.